MDedge Pediatrics

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Drawing from clinical images, researchers trained an artificial intelligence (AI) algorithm to diagnose infantile hemangiomas with an overall accuracy of 91.7%, a proof-of-concept study reported.

Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”

The results were published in Pediatric Dermatology.

Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.

They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.

The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.

“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”

They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.

“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”

The authors reported having no financial disclosures.

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

It was 1970. I was in my second year of medical school. I had been up half the night preparing for a history and physical on a patient with aortic stenosis. When I arrived at the bedside, he refused to talk to me or allow me to examine him. He requested a “White doctor” instead. I can remember the hurt and embarrassment as if it were yesterday.

Coming from the Deep South, I was very familiar with racial bias, but I did not expect it at that level and in that environment. From that point on, I was anxious at each patient encounter, concerned that this might happen again. And it did several times during my residency and fellowship.

The Occupational Safety and Health Administration defines workplace violence as “any act or threat of physical violence, harassment, intimidation, or other threatening disruptive behavior that occurs at the work site. It ranges from threats and verbal abuse to physical assaults.”

There is considerable media focus on incidents of physical violence against health care workers, but when patients, their families, or visitors openly display bias and request a different doctor, nurse, or technician for nonmedical reasons, the impact is profound. This is extremely hurtful to a professional who has worked long and hard to acquire skills and expertise. And, while speech may not constitute violence in the strictest sense of the word, there is growing evidence that it can be physically harmful through its effect on the nervous system, even if no physical contact is involved.

Incidents of bias occur regularly and are clearly on the rise. In most cases the request for a different health care worker is granted to honor the rights of the patient. The healthcare worker is left alone and emotionally wounded; the healthcare institutions are complicit.

This bias is mostly racial but can also be based on religion, sexual orientation, age, disability, body size, accent, or gender.

An entire issue of the American Medical Association Journal of Ethics was devoted to this topic. From recognizing that there are limits to what clinicians should be expected to tolerate when patients’ preferences express unjust bias, the issue also explored where those limits should be placed, why, and who is obliged to enforce them.

The newly adopted Mass General Patient Code of Conduct is evidence that health care systems are beginning to recognize this problem and that such behavior will not be tolerated.

But having a zero-tolerance policy is not enough. We must have procedures in place to discourage and mitigate the impact of patient bias.

A clear definition of what constitutes a bias incident is essential. All team members must be made aware of the procedures for reporting such incidents and the chain of command for escalation. Reporting should be encouraged, and resources must be made available to impacted team members. Surveillance, monitoring, and review are also essential as is clarification on when patient preferences should be honored.

The Mayo Clinic 5 Step Plan is an excellent example of a protocol to deal with patient bias against health care workers and is based on a thoughtful analysis of what constitutes an unreasonable request for a different clinician. I’m pleased to report that my health care system (Inova Health) is developing a similar protocol.

The health care setting should be a bias-free zone for both patients and health care workers. I have been a strong advocate of patients’ rights and worked hard to guard against bias and eliminate disparities in care, but health care workers have rights as well.

We should expect to be treated with respect.

The views expressed by the author are those of the author alone and do not represent the views of the Inova Health System. Dr. Francis is a cardiologist at Inova Heart and Vascular Institute, McLean, Va. He disclosed no conflicts of interest.

A version of this article first appeared on Medscape.com.

It was 1970. I was in my second year of medical school. I had been up half the night preparing for a history and physical on a patient with aortic stenosis. When I arrived at the bedside, he refused to talk to me or allow me to examine him. He requested a “White doctor” instead. I can remember the hurt and embarrassment as if it were yesterday.

Coming from the Deep South, I was very familiar with racial bias, but I did not expect it at that level and in that environment. From that point on, I was anxious at each patient encounter, concerned that this might happen again. And it did several times during my residency and fellowship.

The Occupational Safety and Health Administration defines workplace violence as “any act or threat of physical violence, harassment, intimidation, or other threatening disruptive behavior that occurs at the work site. It ranges from threats and verbal abuse to physical assaults.”

There is considerable media focus on incidents of physical violence against health care workers, but when patients, their families, or visitors openly display bias and request a different doctor, nurse, or technician for nonmedical reasons, the impact is profound. This is extremely hurtful to a professional who has worked long and hard to acquire skills and expertise. And, while speech may not constitute violence in the strictest sense of the word, there is growing evidence that it can be physically harmful through its effect on the nervous system, even if no physical contact is involved.

Incidents of bias occur regularly and are clearly on the rise. In most cases the request for a different health care worker is granted to honor the rights of the patient. The healthcare worker is left alone and emotionally wounded; the healthcare institutions are complicit.

This bias is mostly racial but can also be based on religion, sexual orientation, age, disability, body size, accent, or gender.

An entire issue of the American Medical Association Journal of Ethics was devoted to this topic. From recognizing that there are limits to what clinicians should be expected to tolerate when patients’ preferences express unjust bias, the issue also explored where those limits should be placed, why, and who is obliged to enforce them.

The newly adopted Mass General Patient Code of Conduct is evidence that health care systems are beginning to recognize this problem and that such behavior will not be tolerated.

But having a zero-tolerance policy is not enough. We must have procedures in place to discourage and mitigate the impact of patient bias.

A clear definition of what constitutes a bias incident is essential. All team members must be made aware of the procedures for reporting such incidents and the chain of command for escalation. Reporting should be encouraged, and resources must be made available to impacted team members. Surveillance, monitoring, and review are also essential as is clarification on when patient preferences should be honored.

The Mayo Clinic 5 Step Plan is an excellent example of a protocol to deal with patient bias against health care workers and is based on a thoughtful analysis of what constitutes an unreasonable request for a different clinician. I’m pleased to report that my health care system (Inova Health) is developing a similar protocol.

The health care setting should be a bias-free zone for both patients and health care workers. I have been a strong advocate of patients’ rights and worked hard to guard against bias and eliminate disparities in care, but health care workers have rights as well.

We should expect to be treated with respect.

The views expressed by the author are those of the author alone and do not represent the views of the Inova Health System. Dr. Francis is a cardiologist at Inova Heart and Vascular Institute, McLean, Va. He disclosed no conflicts of interest.

A version of this article first appeared on Medscape.com.

It was 1970. I was in my second year of medical school. I had been up half the night preparing for a history and physical on a patient with aortic stenosis. When I arrived at the bedside, he refused to talk to me or allow me to examine him. He requested a “White doctor” instead. I can remember the hurt and embarrassment as if it were yesterday.

Coming from the Deep South, I was very familiar with racial bias, but I did not expect it at that level and in that environment. From that point on, I was anxious at each patient encounter, concerned that this might happen again. And it did several times during my residency and fellowship.

The Occupational Safety and Health Administration defines workplace violence as “any act or threat of physical violence, harassment, intimidation, or other threatening disruptive behavior that occurs at the work site. It ranges from threats and verbal abuse to physical assaults.”

There is considerable media focus on incidents of physical violence against health care workers, but when patients, their families, or visitors openly display bias and request a different doctor, nurse, or technician for nonmedical reasons, the impact is profound. This is extremely hurtful to a professional who has worked long and hard to acquire skills and expertise. And, while speech may not constitute violence in the strictest sense of the word, there is growing evidence that it can be physically harmful through its effect on the nervous system, even if no physical contact is involved.

Incidents of bias occur regularly and are clearly on the rise. In most cases the request for a different health care worker is granted to honor the rights of the patient. The healthcare worker is left alone and emotionally wounded; the healthcare institutions are complicit.

This bias is mostly racial but can also be based on religion, sexual orientation, age, disability, body size, accent, or gender.

An entire issue of the American Medical Association Journal of Ethics was devoted to this topic. From recognizing that there are limits to what clinicians should be expected to tolerate when patients’ preferences express unjust bias, the issue also explored where those limits should be placed, why, and who is obliged to enforce them.

The newly adopted Mass General Patient Code of Conduct is evidence that health care systems are beginning to recognize this problem and that such behavior will not be tolerated.

But having a zero-tolerance policy is not enough. We must have procedures in place to discourage and mitigate the impact of patient bias.

A clear definition of what constitutes a bias incident is essential. All team members must be made aware of the procedures for reporting such incidents and the chain of command for escalation. Reporting should be encouraged, and resources must be made available to impacted team members. Surveillance, monitoring, and review are also essential as is clarification on when patient preferences should be honored.

The Mayo Clinic 5 Step Plan is an excellent example of a protocol to deal with patient bias against health care workers and is based on a thoughtful analysis of what constitutes an unreasonable request for a different clinician. I’m pleased to report that my health care system (Inova Health) is developing a similar protocol.

The health care setting should be a bias-free zone for both patients and health care workers. I have been a strong advocate of patients’ rights and worked hard to guard against bias and eliminate disparities in care, but health care workers have rights as well.

We should expect to be treated with respect.

The views expressed by the author are those of the author alone and do not represent the views of the Inova Health System. Dr. Francis is a cardiologist at Inova Heart and Vascular Institute, McLean, Va. He disclosed no conflicts of interest.

A version of this article first appeared on Medscape.com.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

A maternal or parental history of atopic dermatitis (AD) or asthma is associated with an increased risk of AD in offspring in the first 2 years of life, an analysis of a large birth cohort found.

“The prevalence of AD in children has increased dramatically in recent years, and most studies reporting the impact of parental atopic history on AD are based on older data,” wrote the study authors, led by Cathal O’Connor, MD. “Given the recent interest in early intervention to prevent AD and other allergic diseases, enhanced early identification of infants at risk of AD is increasingly important.”

The detailed analysis of AD risk associated with parental atopy in early life “may help to risk stratify infants to optimize early interventions for prevention or early treatment of AD,” they wrote.

LucaLorenzelli/Thinkstock

The study was published in Pediatric Dermatology.

For the analysis, Dr. O’Connor of the department of pediatrics and child health at University College Cork (Ireland) and colleagues conducted a secondary analysis of the Cork Babies After Scope: Evaluating the Longitudinal Impact Using Neurological and Nutritional Endpoints (BASELINE) Birth Cohort Study.

The study recruited 2,183 healthy first-born babies between August 2009 and October 2011 to examine the effects of environmental factors during pregnancy and infancy on childhood health and development. Skin barrier assessments were performed at birth, 2 months, 6 months, 12 months, and 24 months using a validated open chamber system to measure transepidermal water loss.

Parental atopy was self-reported at 2 months. Parents were asked at 2 months if the infant had an “itchy rash on the face or in the folds of the arms or legs,” as a screening question for AD. Experienced health care personnel used UK Working Party criteria to diagnose AD at 6, 12, and 24 months.

Complete data on AD status was available for 1,505 children in the cohort. Dr. O’Connor and colleagues calculated an overall AD prevalence of 18.6% at 6 months, 15.2% at 12 months, and 16.5% at 24 months.

Overall prevalence of AD was highest at 6 months. The study showed a similar or slightly higher impact of paternal atopy on offspring AD development, compared to maternal atopy.

Multivariable logistic regression analysis revealed that the odds of AD were 1.57 at 6 months and 1.66 at 12 months for maternal AD; 1.90 at 6 months and 1.85 at 24 months for paternal AD; 1.76 at 6 months and 1.75 at 12 months for maternal asthma; and 1.70 at 6 months, 1.86 at 12 months, and 1.99 at 24 months for paternal asthma.

“Parental allergic rhinitis was not associated with AD in offspring in the first 2 years, except for maternal rhinitis at 24 months [an adjusted odds ratio of 1.79],” the authors wrote. “The genetic predisposition to allergic rhinitis, given the key role of aeroallergen sensitization in its pathogenesis, may not be associated with early onset AD, but may have a greater impact in later onset or persistent AD.”

The authors acknowledged certain limitations of the study, including the fact that it was a secondary data analysis, and that parental AD, asthma, and rhinitis were self-reported, “which may reduce reliability and may contribute to the differences seen between the impact of maternal and paternal reported atopy on offspring,” they wrote. “Data on siblings were not captured, as participants in the study were first-born children. Filaggrin mutational analysis was not performed, which would have provided richer detail.”

A maternal or parental history of atopic dermatitis (AD) or asthma is associated with an increased risk of AD in offspring in the first 2 years of life, an analysis of a large birth cohort found.

“The prevalence of AD in children has increased dramatically in recent years, and most studies reporting the impact of parental atopic history on AD are based on older data,” wrote the study authors, led by Cathal O’Connor, MD. “Given the recent interest in early intervention to prevent AD and other allergic diseases, enhanced early identification of infants at risk of AD is increasingly important.”

The detailed analysis of AD risk associated with parental atopy in early life “may help to risk stratify infants to optimize early interventions for prevention or early treatment of AD,” they wrote.

LucaLorenzelli/Thinkstock

The study was published in Pediatric Dermatology.

For the analysis, Dr. O’Connor of the department of pediatrics and child health at University College Cork (Ireland) and colleagues conducted a secondary analysis of the Cork Babies After Scope: Evaluating the Longitudinal Impact Using Neurological and Nutritional Endpoints (BASELINE) Birth Cohort Study.

The study recruited 2,183 healthy first-born babies between August 2009 and October 2011 to examine the effects of environmental factors during pregnancy and infancy on childhood health and development. Skin barrier assessments were performed at birth, 2 months, 6 months, 12 months, and 24 months using a validated open chamber system to measure transepidermal water loss.

Parental atopy was self-reported at 2 months. Parents were asked at 2 months if the infant had an “itchy rash on the face or in the folds of the arms or legs,” as a screening question for AD. Experienced health care personnel used UK Working Party criteria to diagnose AD at 6, 12, and 24 months.

Complete data on AD status was available for 1,505 children in the cohort. Dr. O’Connor and colleagues calculated an overall AD prevalence of 18.6% at 6 months, 15.2% at 12 months, and 16.5% at 24 months.

Overall prevalence of AD was highest at 6 months. The study showed a similar or slightly higher impact of paternal atopy on offspring AD development, compared to maternal atopy.

Multivariable logistic regression analysis revealed that the odds of AD were 1.57 at 6 months and 1.66 at 12 months for maternal AD; 1.90 at 6 months and 1.85 at 24 months for paternal AD; 1.76 at 6 months and 1.75 at 12 months for maternal asthma; and 1.70 at 6 months, 1.86 at 12 months, and 1.99 at 24 months for paternal asthma.

“Parental allergic rhinitis was not associated with AD in offspring in the first 2 years, except for maternal rhinitis at 24 months [an adjusted odds ratio of 1.79],” the authors wrote. “The genetic predisposition to allergic rhinitis, given the key role of aeroallergen sensitization in its pathogenesis, may not be associated with early onset AD, but may have a greater impact in later onset or persistent AD.”

The authors acknowledged certain limitations of the study, including the fact that it was a secondary data analysis, and that parental AD, asthma, and rhinitis were self-reported, “which may reduce reliability and may contribute to the differences seen between the impact of maternal and paternal reported atopy on offspring,” they wrote. “Data on siblings were not captured, as participants in the study were first-born children. Filaggrin mutational analysis was not performed, which would have provided richer detail.”

A maternal or parental history of atopic dermatitis (AD) or asthma is associated with an increased risk of AD in offspring in the first 2 years of life, an analysis of a large birth cohort found.

“The prevalence of AD in children has increased dramatically in recent years, and most studies reporting the impact of parental atopic history on AD are based on older data,” wrote the study authors, led by Cathal O’Connor, MD. “Given the recent interest in early intervention to prevent AD and other allergic diseases, enhanced early identification of infants at risk of AD is increasingly important.”

The detailed analysis of AD risk associated with parental atopy in early life “may help to risk stratify infants to optimize early interventions for prevention or early treatment of AD,” they wrote.

LucaLorenzelli/Thinkstock

The study was published in Pediatric Dermatology.

For the analysis, Dr. O’Connor of the department of pediatrics and child health at University College Cork (Ireland) and colleagues conducted a secondary analysis of the Cork Babies After Scope: Evaluating the Longitudinal Impact Using Neurological and Nutritional Endpoints (BASELINE) Birth Cohort Study.

The study recruited 2,183 healthy first-born babies between August 2009 and October 2011 to examine the effects of environmental factors during pregnancy and infancy on childhood health and development. Skin barrier assessments were performed at birth, 2 months, 6 months, 12 months, and 24 months using a validated open chamber system to measure transepidermal water loss.

Parental atopy was self-reported at 2 months. Parents were asked at 2 months if the infant had an “itchy rash on the face or in the folds of the arms or legs,” as a screening question for AD. Experienced health care personnel used UK Working Party criteria to diagnose AD at 6, 12, and 24 months.

Complete data on AD status was available for 1,505 children in the cohort. Dr. O’Connor and colleagues calculated an overall AD prevalence of 18.6% at 6 months, 15.2% at 12 months, and 16.5% at 24 months.

Overall prevalence of AD was highest at 6 months. The study showed a similar or slightly higher impact of paternal atopy on offspring AD development, compared to maternal atopy.

Multivariable logistic regression analysis revealed that the odds of AD were 1.57 at 6 months and 1.66 at 12 months for maternal AD; 1.90 at 6 months and 1.85 at 24 months for paternal AD; 1.76 at 6 months and 1.75 at 12 months for maternal asthma; and 1.70 at 6 months, 1.86 at 12 months, and 1.99 at 24 months for paternal asthma.

“Parental allergic rhinitis was not associated with AD in offspring in the first 2 years, except for maternal rhinitis at 24 months [an adjusted odds ratio of 1.79],” the authors wrote. “The genetic predisposition to allergic rhinitis, given the key role of aeroallergen sensitization in its pathogenesis, may not be associated with early onset AD, but may have a greater impact in later onset or persistent AD.”

The authors acknowledged certain limitations of the study, including the fact that it was a secondary data analysis, and that parental AD, asthma, and rhinitis were self-reported, “which may reduce reliability and may contribute to the differences seen between the impact of maternal and paternal reported atopy on offspring,” they wrote. “Data on siblings were not captured, as participants in the study were first-born children. Filaggrin mutational analysis was not performed, which would have provided richer detail.”

Poison control centers in the United States now receive more calls about adolescents abusing cannabis than alcohol or any other substance, according to a new study.

Many helpline calls about cannabis involve edible products, the researchers noted.

Over-the-counter medications – especially dextromethorphan-containing cough and cold medications and oral antihistamines, such as Benadryl – are other commonly abused substances.

But cannabis recently started topping the list.

“Since 2018, the most reported misused/abused substance involved exposure to marijuana,” according to the study, which was published online in Clinical Toxicology.  

Adrienne Hughes, MD, assistant professor of emergency medicine at Oregon Health & Science University, Portland, and colleagues analyzed calls to United States poison control centers between 2000 and 2020. They focused on 338,000 calls about intentional substance abuse or misuse, including for the purpose of getting high, in individuals aged 6-18 years.

The calls were made to 55 certified helplines for health professionals, public health agencies, and members of the public seeking guidance about exposures to various substances.
 

Cannabis vs. alcohol

In 2000, alcohol was the substance involved in the largest number of cases (1,318, or 9.8% of all calls). Between 2000 and 2013, cases of alcohol abuse exceeded the number of cannabis cases each year.

But that changed in 2014, when cannabis overtook alcohol.

Over the 20-year study period, calls about exposure to cannabis increased 245%, from 510 in 2000 to 1,761 in 2020.

Edibles played a key role.

“Edible marijuana preparations accounted for the highest increase in call rates, compared with all other forms of marijuana,” the researchers reported.

Edible products are “often marketed in ways that are attractive to young people, and they are considered more discrete and convenient,” Dr. Hughes said. But they can have “unpredictable” effects.

“Compared to smoking cannabis, which typically results in an immediate high, intoxication from edible forms usually takes several hours, which may lead some individuals to consume greater amounts and experience unexpected and unpredictable highs,” she said. 

For example, prior research has shown that edible cannabis consumption may lead to more acute psychiatric symptoms and cardiovascular events than does inhaled cannabis.

Trends in alcohol use may have held relatively steady, despite some minor declines in the poison center data, Dr. Hughes said.

“Anecdotally, there hasn’t been an obvious notable reduction in alcohol cases in the emergency department,” she said. “However, I wouldn’t expect a huge change given our data only found a slow mild decline in alcohol cases over the study period.”

The increase in cannabis-related calls coincides with more states legalizing or decriminalizing the drug for medical or recreational purposes. Currently, 21 states have approved recreational cannabis for adults who are at least 21 years old.
 

What are the risks?

Parents typically call a poison center about cannabis exposure after they see or suspect that their child has ingested loose cannabis leaves or edibles containing the substance, Dr. Hughes said.

“The poison center provides guidance to parents about whether or not their child can be watched at home or requires referral to a health care facility,” she said. “While marijuana carries a low risk for severe toxicity, it can be inebriating to the point of poor judgment, risk of falls or other injury, and occasionally a panic reaction in the novice user and unsuspecting children who accidentally ingest these products.”

Intentional misuse or abuse tends to occur in older children and teens.

Nonprescription drugs have a high potential for abuse because they are legal and may be perceived as safe, Dr. Hughes said.

If a child has a history of misusing or abusing substances or if a parent is worried that their child is at high risk for this behavior, they should consider securing medicines in a lock box, she advised.

That applies to cannabis too.

“I would recommend that parents also consider locking up their cannabis products,” she said.

The National Poison Data System relies on voluntary reporting, and the data are not expected to represent the actual number of intentional misuse and abuse exposures, the researchers noted.

Poison control centers in the United States are available for consultation about patients with known or suspected cannabis ingestion or other suspected poisonings (1-800-222-1222).

The researchers had no disclosures.

A version of this article first appeared on Medscape.com.

Poison control centers in the United States now receive more calls about adolescents abusing cannabis than alcohol or any other substance, according to a new study.

Many helpline calls about cannabis involve edible products, the researchers noted.

Over-the-counter medications – especially dextromethorphan-containing cough and cold medications and oral antihistamines, such as Benadryl – are other commonly abused substances.

But cannabis recently started topping the list.

“Since 2018, the most reported misused/abused substance involved exposure to marijuana,” according to the study, which was published online in Clinical Toxicology.  

Adrienne Hughes, MD, assistant professor of emergency medicine at Oregon Health & Science University, Portland, and colleagues analyzed calls to United States poison control centers between 2000 and 2020. They focused on 338,000 calls about intentional substance abuse or misuse, including for the purpose of getting high, in individuals aged 6-18 years.

The calls were made to 55 certified helplines for health professionals, public health agencies, and members of the public seeking guidance about exposures to various substances.
 

Cannabis vs. alcohol

In 2000, alcohol was the substance involved in the largest number of cases (1,318, or 9.8% of all calls). Between 2000 and 2013, cases of alcohol abuse exceeded the number of cannabis cases each year.

But that changed in 2014, when cannabis overtook alcohol.

Over the 20-year study period, calls about exposure to cannabis increased 245%, from 510 in 2000 to 1,761 in 2020.

Edibles played a key role.

“Edible marijuana preparations accounted for the highest increase in call rates, compared with all other forms of marijuana,” the researchers reported.

Edible products are “often marketed in ways that are attractive to young people, and they are considered more discrete and convenient,” Dr. Hughes said. But they can have “unpredictable” effects.

“Compared to smoking cannabis, which typically results in an immediate high, intoxication from edible forms usually takes several hours, which may lead some individuals to consume greater amounts and experience unexpected and unpredictable highs,” she said. 

For example, prior research has shown that edible cannabis consumption may lead to more acute psychiatric symptoms and cardiovascular events than does inhaled cannabis.

Trends in alcohol use may have held relatively steady, despite some minor declines in the poison center data, Dr. Hughes said.

“Anecdotally, there hasn’t been an obvious notable reduction in alcohol cases in the emergency department,” she said. “However, I wouldn’t expect a huge change given our data only found a slow mild decline in alcohol cases over the study period.”

The increase in cannabis-related calls coincides with more states legalizing or decriminalizing the drug for medical or recreational purposes. Currently, 21 states have approved recreational cannabis for adults who are at least 21 years old.
 

What are the risks?

Parents typically call a poison center about cannabis exposure after they see or suspect that their child has ingested loose cannabis leaves or edibles containing the substance, Dr. Hughes said.

“The poison center provides guidance to parents about whether or not their child can be watched at home or requires referral to a health care facility,” she said. “While marijuana carries a low risk for severe toxicity, it can be inebriating to the point of poor judgment, risk of falls or other injury, and occasionally a panic reaction in the novice user and unsuspecting children who accidentally ingest these products.”

Intentional misuse or abuse tends to occur in older children and teens.

Nonprescription drugs have a high potential for abuse because they are legal and may be perceived as safe, Dr. Hughes said.

If a child has a history of misusing or abusing substances or if a parent is worried that their child is at high risk for this behavior, they should consider securing medicines in a lock box, she advised.

That applies to cannabis too.

“I would recommend that parents also consider locking up their cannabis products,” she said.

The National Poison Data System relies on voluntary reporting, and the data are not expected to represent the actual number of intentional misuse and abuse exposures, the researchers noted.

Poison control centers in the United States are available for consultation about patients with known or suspected cannabis ingestion or other suspected poisonings (1-800-222-1222).

The researchers had no disclosures.

A version of this article first appeared on Medscape.com.

Poison control centers in the United States now receive more calls about adolescents abusing cannabis than alcohol or any other substance, according to a new study.

Many helpline calls about cannabis involve edible products, the researchers noted.

Over-the-counter medications – especially dextromethorphan-containing cough and cold medications and oral antihistamines, such as Benadryl – are other commonly abused substances.

But cannabis recently started topping the list.

“Since 2018, the most reported misused/abused substance involved exposure to marijuana,” according to the study, which was published online in Clinical Toxicology.  

Adrienne Hughes, MD, assistant professor of emergency medicine at Oregon Health & Science University, Portland, and colleagues analyzed calls to United States poison control centers between 2000 and 2020. They focused on 338,000 calls about intentional substance abuse or misuse, including for the purpose of getting high, in individuals aged 6-18 years.

The calls were made to 55 certified helplines for health professionals, public health agencies, and members of the public seeking guidance about exposures to various substances.
 

Cannabis vs. alcohol

In 2000, alcohol was the substance involved in the largest number of cases (1,318, or 9.8% of all calls). Between 2000 and 2013, cases of alcohol abuse exceeded the number of cannabis cases each year.

But that changed in 2014, when cannabis overtook alcohol.

Over the 20-year study period, calls about exposure to cannabis increased 245%, from 510 in 2000 to 1,761 in 2020.

Edibles played a key role.

“Edible marijuana preparations accounted for the highest increase in call rates, compared with all other forms of marijuana,” the researchers reported.

Edible products are “often marketed in ways that are attractive to young people, and they are considered more discrete and convenient,” Dr. Hughes said. But they can have “unpredictable” effects.

“Compared to smoking cannabis, which typically results in an immediate high, intoxication from edible forms usually takes several hours, which may lead some individuals to consume greater amounts and experience unexpected and unpredictable highs,” she said. 

For example, prior research has shown that edible cannabis consumption may lead to more acute psychiatric symptoms and cardiovascular events than does inhaled cannabis.

Trends in alcohol use may have held relatively steady, despite some minor declines in the poison center data, Dr. Hughes said.

“Anecdotally, there hasn’t been an obvious notable reduction in alcohol cases in the emergency department,” she said. “However, I wouldn’t expect a huge change given our data only found a slow mild decline in alcohol cases over the study period.”

The increase in cannabis-related calls coincides with more states legalizing or decriminalizing the drug for medical or recreational purposes. Currently, 21 states have approved recreational cannabis for adults who are at least 21 years old.
 

What are the risks?

Parents typically call a poison center about cannabis exposure after they see or suspect that their child has ingested loose cannabis leaves or edibles containing the substance, Dr. Hughes said.

“The poison center provides guidance to parents about whether or not their child can be watched at home or requires referral to a health care facility,” she said. “While marijuana carries a low risk for severe toxicity, it can be inebriating to the point of poor judgment, risk of falls or other injury, and occasionally a panic reaction in the novice user and unsuspecting children who accidentally ingest these products.”

Intentional misuse or abuse tends to occur in older children and teens.

Nonprescription drugs have a high potential for abuse because they are legal and may be perceived as safe, Dr. Hughes said.

If a child has a history of misusing or abusing substances or if a parent is worried that their child is at high risk for this behavior, they should consider securing medicines in a lock box, she advised.

That applies to cannabis too.

“I would recommend that parents also consider locking up their cannabis products,” she said.

The National Poison Data System relies on voluntary reporting, and the data are not expected to represent the actual number of intentional misuse and abuse exposures, the researchers noted.

Poison control centers in the United States are available for consultation about patients with known or suspected cannabis ingestion or other suspected poisonings (1-800-222-1222).

The researchers had no disclosures.

A version of this article first appeared on Medscape.com.

Adolescents later diagnosed with anorexia nervosa (AN) likely embark on the trajectory to AN with undisclosed dieting for weight loss at about age 14, a study of teens and parents found.

In the interview-based study, both adolescents and their parents described a similar prediagnosis sequence of behavioral changes occurring over roughly 1 year to 18 months, but parents lagged some 6 months behind in noticing their children’s disordered eating.

The findings suggest that even teens of normal weight should be asked about their eating habits and monitored more closely for contact with those who endorse these potentially harmful eating behaviors, according to Lisa M. Ranzenhofer, PhD, assistant professor of clinical psychology in psychiatry at Columbia University Medical Center in New York, and colleagues. Their report is in the Journal of Adolescent Health.

“We know that adolescents often have eating disorder behaviors long before they’re diagnosed, so we developed this interview as a tool to figure out how long a maladaptive behavior has been present,” Dr. Ranzenhofer said in an interview. “Most studies that report illness duration do so based on diagnosis, so this interview provides a more fine-grained assessment of the duration of problematic behavior, which may help improve understanding of the impact of duration on outcome, and hopefully facilitate better methods for early detection.” Since healthy adolescents are often seen once per year at an annual pediatrician visit, she added, teens engaging in significant dieting might benefit from more frequent monitoring since this behavior can evolve into an eating disorder over a relatively short time frame.

AN is associated with significant medical and psychiatric comorbidity and has a mortality rate among the highest of any psychiatric illness, the authors noted.
 

The study

The study cohort consisted of 71 girls ages 12-18 years participating in research from 2017 to 2021 at the Eating Disorders Research Unit of New York (N.Y.) State Psychiatric Institute. Patients had either the restricting or binge-eating/purging subtype of AN as diagnosed by the Eating Disorder Assessment–5 questionnaire. A semistructured 15-minute interview with the girls and their parents explored food restriction, dieting, loss of control/binge eating, purging, excessive/compulsive exercise, weight history, and amenorrhea.

Both parents and children were asked whether and when the children had been underweight or overweight, and whether and when primary amenorrhea (no menarche) or secondary amenorrhea (periods missed for 3 months) became evident. Dieting was defined as “deliberately changing eating patterns in any way to influence your shape or weight,” and restriction as “deliberately cutting down on the amount of food that you are eating, in order to change your shape or weight.” Loss-of-control eating was defined as “feeling unable to stop eating or control what or how much you are eating.”

In other characterizations, purging was defined as making yourself vomit on purpose, taking diuretics, or feeling driven to engage in these behaviors. Questions on exercise explored whether children might feel anxious when they do not exercise or inclined to exercise even if sick or injured, with excessive exercise defined as “Feeling like you must exercise, might continue exercising, sometimes in secret, if parents or doctors have told you to stop.”

Other questions focused on use of diuretics or laxatives and other strategies to compensate for calories consumed.

Responses revealed that restriction, underweight, dieting, and excessive exercise were present in most of the sample, while purging, loss-of-control eating, and overweight were reported by fewer than a third. With dieting typically emerging first around age 14, the other behaviors tended to manifest from age 14 to 14 and a half. The average age of formal diagnosis was just over 15 years. Parent-child dyads showed good agreement on the presence and timing of all behaviors except for dieting, for which children reported onset about 6 months earlier or longer duration compared with parents.

Although older age at the time of interview was associated with a lower body mass index percentile and higher eating disorder score, neither age of onset nor duration of disordered eating was associated with severity when researchers controlled for current age.
 

Telltale signs for parents

“For teens starting at a healthy weight, significant and intentional weight loss of more than 5-10 pounds can be a cause for concern,” Dr. Ranzenhofer said. Missed periods, refusing meals, skipping meals, fighting or arguing about eating, and withdrawal from normal activities and relationships are other signs of disordered eating. For overweight or obese teens, rapid weight loss and weight loss above and beyond that recommended are also concerning.

As for compulsive exercise, she said, “Altered exercise behavior might look like exercise that interferes with other activities, for example, being late to school or not doing homework in order to exercise.” Other red flags would be physical activity that varies considerably from that of peers, for instance, going running after a 2-hour sports practice and an inflexible routine that precludes being able to skip a day.

“All adolescents, male and female, should be screened regardless of weight trends – underweight, overweight, obese, or normal weight – regarding their body image and thoughts of dieting,” said Margaret E. Thew, DNP, FNP-BC, of the Medical College of Wisconsin, and medical director of the department of adolescent medicine at Children’s Wisconsin in Milwaukee, commenting on the study but not involved in it. “Most adolescents make decisions to lose weight after trying to ‘eat healthy’ but may take an aggressive approach when they don’t see the weight loss they hope to see.”

According to Ms. Thew, the study findings support the benefit of giving medical caregivers and parents training on the red flags regarding eating disorders to foster early detection. “These include starting a new fad diet, eliminating foods, ‘healthy eating,’ over-exercising, skipping meals, or no longer eating foods they previously loved.”

She added that times of transition are key junctures to watch: The transition from grade school to middle school, middle to high school, and high school to college. “These tend to provoke eating disorder onset or relapse of eating disorder thoughts and behaviors after diagnosis,” Ms. Thew said. “It would benefit the patient to screen for concerns about disordered eating and provide resources, including consultation with a dietitian, as appropriate.”

This study was supported by grants from the National Institute of Mental Health and the Hilda and Preston Davis Foundation. Coauthor Joanna E. Steinglass, MD, disclosed receiving royalties from UpToDate. Ms. Thew disclosed no competing interests with regard to her comments.

Adolescents later diagnosed with anorexia nervosa (AN) likely embark on the trajectory to AN with undisclosed dieting for weight loss at about age 14, a study of teens and parents found.

In the interview-based study, both adolescents and their parents described a similar prediagnosis sequence of behavioral changes occurring over roughly 1 year to 18 months, but parents lagged some 6 months behind in noticing their children’s disordered eating.

The findings suggest that even teens of normal weight should be asked about their eating habits and monitored more closely for contact with those who endorse these potentially harmful eating behaviors, according to Lisa M. Ranzenhofer, PhD, assistant professor of clinical psychology in psychiatry at Columbia University Medical Center in New York, and colleagues. Their report is in the Journal of Adolescent Health.

“We know that adolescents often have eating disorder behaviors long before they’re diagnosed, so we developed this interview as a tool to figure out how long a maladaptive behavior has been present,” Dr. Ranzenhofer said in an interview. “Most studies that report illness duration do so based on diagnosis, so this interview provides a more fine-grained assessment of the duration of problematic behavior, which may help improve understanding of the impact of duration on outcome, and hopefully facilitate better methods for early detection.” Since healthy adolescents are often seen once per year at an annual pediatrician visit, she added, teens engaging in significant dieting might benefit from more frequent monitoring since this behavior can evolve into an eating disorder over a relatively short time frame.

AN is associated with significant medical and psychiatric comorbidity and has a mortality rate among the highest of any psychiatric illness, the authors noted.
 

The study

The study cohort consisted of 71 girls ages 12-18 years participating in research from 2017 to 2021 at the Eating Disorders Research Unit of New York (N.Y.) State Psychiatric Institute. Patients had either the restricting or binge-eating/purging subtype of AN as diagnosed by the Eating Disorder Assessment–5 questionnaire. A semistructured 15-minute interview with the girls and their parents explored food restriction, dieting, loss of control/binge eating, purging, excessive/compulsive exercise, weight history, and amenorrhea.

Both parents and children were asked whether and when the children had been underweight or overweight, and whether and when primary amenorrhea (no menarche) or secondary amenorrhea (periods missed for 3 months) became evident. Dieting was defined as “deliberately changing eating patterns in any way to influence your shape or weight,” and restriction as “deliberately cutting down on the amount of food that you are eating, in order to change your shape or weight.” Loss-of-control eating was defined as “feeling unable to stop eating or control what or how much you are eating.”

In other characterizations, purging was defined as making yourself vomit on purpose, taking diuretics, or feeling driven to engage in these behaviors. Questions on exercise explored whether children might feel anxious when they do not exercise or inclined to exercise even if sick or injured, with excessive exercise defined as “Feeling like you must exercise, might continue exercising, sometimes in secret, if parents or doctors have told you to stop.”

Other questions focused on use of diuretics or laxatives and other strategies to compensate for calories consumed.

Responses revealed that restriction, underweight, dieting, and excessive exercise were present in most of the sample, while purging, loss-of-control eating, and overweight were reported by fewer than a third. With dieting typically emerging first around age 14, the other behaviors tended to manifest from age 14 to 14 and a half. The average age of formal diagnosis was just over 15 years. Parent-child dyads showed good agreement on the presence and timing of all behaviors except for dieting, for which children reported onset about 6 months earlier or longer duration compared with parents.

Although older age at the time of interview was associated with a lower body mass index percentile and higher eating disorder score, neither age of onset nor duration of disordered eating was associated with severity when researchers controlled for current age.
 

Telltale signs for parents

“For teens starting at a healthy weight, significant and intentional weight loss of more than 5-10 pounds can be a cause for concern,” Dr. Ranzenhofer said. Missed periods, refusing meals, skipping meals, fighting or arguing about eating, and withdrawal from normal activities and relationships are other signs of disordered eating. For overweight or obese teens, rapid weight loss and weight loss above and beyond that recommended are also concerning.

As for compulsive exercise, she said, “Altered exercise behavior might look like exercise that interferes with other activities, for example, being late to school or not doing homework in order to exercise.” Other red flags would be physical activity that varies considerably from that of peers, for instance, going running after a 2-hour sports practice and an inflexible routine that precludes being able to skip a day.

“All adolescents, male and female, should be screened regardless of weight trends – underweight, overweight, obese, or normal weight – regarding their body image and thoughts of dieting,” said Margaret E. Thew, DNP, FNP-BC, of the Medical College of Wisconsin, and medical director of the department of adolescent medicine at Children’s Wisconsin in Milwaukee, commenting on the study but not involved in it. “Most adolescents make decisions to lose weight after trying to ‘eat healthy’ but may take an aggressive approach when they don’t see the weight loss they hope to see.”

According to Ms. Thew, the study findings support the benefit of giving medical caregivers and parents training on the red flags regarding eating disorders to foster early detection. “These include starting a new fad diet, eliminating foods, ‘healthy eating,’ over-exercising, skipping meals, or no longer eating foods they previously loved.”

She added that times of transition are key junctures to watch: The transition from grade school to middle school, middle to high school, and high school to college. “These tend to provoke eating disorder onset or relapse of eating disorder thoughts and behaviors after diagnosis,” Ms. Thew said. “It would benefit the patient to screen for concerns about disordered eating and provide resources, including consultation with a dietitian, as appropriate.”

This study was supported by grants from the National Institute of Mental Health and the Hilda and Preston Davis Foundation. Coauthor Joanna E. Steinglass, MD, disclosed receiving royalties from UpToDate. Ms. Thew disclosed no competing interests with regard to her comments.

Adolescents later diagnosed with anorexia nervosa (AN) likely embark on the trajectory to AN with undisclosed dieting for weight loss at about age 14, a study of teens and parents found.

In the interview-based study, both adolescents and their parents described a similar prediagnosis sequence of behavioral changes occurring over roughly 1 year to 18 months, but parents lagged some 6 months behind in noticing their children’s disordered eating.

The findings suggest that even teens of normal weight should be asked about their eating habits and monitored more closely for contact with those who endorse these potentially harmful eating behaviors, according to Lisa M. Ranzenhofer, PhD, assistant professor of clinical psychology in psychiatry at Columbia University Medical Center in New York, and colleagues. Their report is in the Journal of Adolescent Health.

“We know that adolescents often have eating disorder behaviors long before they’re diagnosed, so we developed this interview as a tool to figure out how long a maladaptive behavior has been present,” Dr. Ranzenhofer said in an interview. “Most studies that report illness duration do so based on diagnosis, so this interview provides a more fine-grained assessment of the duration of problematic behavior, which may help improve understanding of the impact of duration on outcome, and hopefully facilitate better methods for early detection.” Since healthy adolescents are often seen once per year at an annual pediatrician visit, she added, teens engaging in significant dieting might benefit from more frequent monitoring since this behavior can evolve into an eating disorder over a relatively short time frame.

AN is associated with significant medical and psychiatric comorbidity and has a mortality rate among the highest of any psychiatric illness, the authors noted.
 

The study

The study cohort consisted of 71 girls ages 12-18 years participating in research from 2017 to 2021 at the Eating Disorders Research Unit of New York (N.Y.) State Psychiatric Institute. Patients had either the restricting or binge-eating/purging subtype of AN as diagnosed by the Eating Disorder Assessment–5 questionnaire. A semistructured 15-minute interview with the girls and their parents explored food restriction, dieting, loss of control/binge eating, purging, excessive/compulsive exercise, weight history, and amenorrhea.

Both parents and children were asked whether and when the children had been underweight or overweight, and whether and when primary amenorrhea (no menarche) or secondary amenorrhea (periods missed for 3 months) became evident. Dieting was defined as “deliberately changing eating patterns in any way to influence your shape or weight,” and restriction as “deliberately cutting down on the amount of food that you are eating, in order to change your shape or weight.” Loss-of-control eating was defined as “feeling unable to stop eating or control what or how much you are eating.”

In other characterizations, purging was defined as making yourself vomit on purpose, taking diuretics, or feeling driven to engage in these behaviors. Questions on exercise explored whether children might feel anxious when they do not exercise or inclined to exercise even if sick or injured, with excessive exercise defined as “Feeling like you must exercise, might continue exercising, sometimes in secret, if parents or doctors have told you to stop.”

Other questions focused on use of diuretics or laxatives and other strategies to compensate for calories consumed.

Responses revealed that restriction, underweight, dieting, and excessive exercise were present in most of the sample, while purging, loss-of-control eating, and overweight were reported by fewer than a third. With dieting typically emerging first around age 14, the other behaviors tended to manifest from age 14 to 14 and a half. The average age of formal diagnosis was just over 15 years. Parent-child dyads showed good agreement on the presence and timing of all behaviors except for dieting, for which children reported onset about 6 months earlier or longer duration compared with parents.

Although older age at the time of interview was associated with a lower body mass index percentile and higher eating disorder score, neither age of onset nor duration of disordered eating was associated with severity when researchers controlled for current age.
 

Telltale signs for parents

“For teens starting at a healthy weight, significant and intentional weight loss of more than 5-10 pounds can be a cause for concern,” Dr. Ranzenhofer said. Missed periods, refusing meals, skipping meals, fighting or arguing about eating, and withdrawal from normal activities and relationships are other signs of disordered eating. For overweight or obese teens, rapid weight loss and weight loss above and beyond that recommended are also concerning.

As for compulsive exercise, she said, “Altered exercise behavior might look like exercise that interferes with other activities, for example, being late to school or not doing homework in order to exercise.” Other red flags would be physical activity that varies considerably from that of peers, for instance, going running after a 2-hour sports practice and an inflexible routine that precludes being able to skip a day.

“All adolescents, male and female, should be screened regardless of weight trends – underweight, overweight, obese, or normal weight – regarding their body image and thoughts of dieting,” said Margaret E. Thew, DNP, FNP-BC, of the Medical College of Wisconsin, and medical director of the department of adolescent medicine at Children’s Wisconsin in Milwaukee, commenting on the study but not involved in it. “Most adolescents make decisions to lose weight after trying to ‘eat healthy’ but may take an aggressive approach when they don’t see the weight loss they hope to see.”

According to Ms. Thew, the study findings support the benefit of giving medical caregivers and parents training on the red flags regarding eating disorders to foster early detection. “These include starting a new fad diet, eliminating foods, ‘healthy eating,’ over-exercising, skipping meals, or no longer eating foods they previously loved.”

She added that times of transition are key junctures to watch: The transition from grade school to middle school, middle to high school, and high school to college. “These tend to provoke eating disorder onset or relapse of eating disorder thoughts and behaviors after diagnosis,” Ms. Thew said. “It would benefit the patient to screen for concerns about disordered eating and provide resources, including consultation with a dietitian, as appropriate.”

This study was supported by grants from the National Institute of Mental Health and the Hilda and Preston Davis Foundation. Coauthor Joanna E. Steinglass, MD, disclosed receiving royalties from UpToDate. Ms. Thew disclosed no competing interests with regard to her comments.

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.