Doug Brunk

Infectious disease hospitalizations accounted for 43% of all infant hospitalizations in the United States in 2003, at a cost of $690 million, results from a large national analysis of hospital records demonstrated.

Younger infants, boys, and nonwhite infants were at increased risk for infectious disease-related hospitalization; the most common diagnoses were lower respiratory tract infections, Krista L. Yorita, M.P.H., of the division of viral and rickettsial disease at the Centers for Disease Control and Prevention and colleagues reported.

“Additional efforts are needed to provide broader access to preventive services, to decrease health care disparities, and to improve the health status for all infants in the United States,” they wrote.

To assess the burden and epidemiological features of infectious disease hospitalizations in the United States, the researchers extracted hospital discharge records from the Kids' Inpatient Database (KID). Produced by the Healthcare Cost and Utilization Project, this database contains pediatric discharge information from short-term, nonfederal, general, and specialty hospitals in 36 states.

The investigators limited their analysis to hospitalizations for infants younger than 1 year of age who had an ICD-9 code for an infectious disease listed as the primary diagnosis on their discharge record (Pediatrics 2008;121:244–52).

In 2003, there were 286,739 infectious disease-related hospitalizations among infants, which accounted for 43% of all infant hospitalizations in the database that year. This translated into an infectious disease hospitalization rate of 7,011 hospitalizations per 100,000 live births, or nearly 1 hospitalization for every 14 infants. This figure had not changed from the 1998–1999 rate reported in a study that used data from the National Hospital Discharge Survey (Pediatrics 2003;111:e176–82).

Infants in the second month of life made up the largest group of infants hospitalized for infectious disease (19%). Boys were significantly more likely than girls to be hospitalized for infectious disease (7,815 per 100,000 live births vs. 6,138 per 100,000 live births, respectively).

In addition, Hispanic and non-Hispanic black infants had higher infectious disease hospitalization rates, compared with non-Hispanic white infants, whereas Asian/Pacific Islander infants had the lowest rates of hospitalization.

“Male gender and nonwhite race are both known risk factors for infant death and adverse outcomes (including low birth weight), which may influence the high rate of infectious disease hospitalizations in this group,” the researchers noted.

Lower respiratory tract infections were the most commonly listed diagnoses (59%), followed by diagnoses including kidney, urinary tract, and bladder infections (8%), upper respiratory tract infections (7%), and septicemia (7%).

Respiratory syncytial virus (RSV) “is the most common viral cause of lower respiratory tract infections in infants and, consistent with our findings, RSV bronchiolitis was reported to be the leading primary diagnosis for hospital discharges among infants in previous years,” the researchers reported.

They went on to note that the rate of bronchiolitis-associated hospitalizations increased among infants in the United States from 1980 to 1996 and from 1999 to 2001, “indicating a need for continued surveillance and research into potential vaccines and treatments.”

Hospital cost for all admissions included in the study totaled $690 million.

The median hospital stay was 3 days for a median cost of $2,235 per infant hospitalized.

The researchers acknowledged certain limitations of the study, including the fact that the reporting of infectious disease hospitalizations differs among hospitals, “or by regional differences in admitting practices, and diagnoses may be incomplete or miscoded.”

“It is not possible to identify a patient or to link the patient's hospitalization records in the KID, because patient identifiers are not available; therefore, readmissions would be included in this analysis.”

They also noted that the study did not include data from federal health facilities where many American Indian and Alaska Native patients seek health care.

The researchers had no relevant conflicts of interest to disclose.

Infectious disease hospitalizations accounted for 43% of all infant hospitalizations in the United States in 2003, at a cost of $690 million, results from a large national analysis of hospital records demonstrated.

Younger infants, boys, and nonwhite infants were at increased risk for infectious disease-related hospitalization; the most common diagnoses were lower respiratory tract infections, Krista L. Yorita, M.P.H., of the division of viral and rickettsial disease at the Centers for Disease Control and Prevention and colleagues reported.

“Additional efforts are needed to provide broader access to preventive services, to decrease health care disparities, and to improve the health status for all infants in the United States,” they wrote.

To assess the burden and epidemiological features of infectious disease hospitalizations in the United States, the researchers extracted hospital discharge records from the Kids' Inpatient Database (KID). Produced by the Healthcare Cost and Utilization Project, this database contains pediatric discharge information from short-term, nonfederal, general, and specialty hospitals in 36 states.

The investigators limited their analysis to hospitalizations for infants younger than 1 year of age who had an ICD-9 code for an infectious disease listed as the primary diagnosis on their discharge record (Pediatrics 2008;121:244–52).

In 2003, there were 286,739 infectious disease-related hospitalizations among infants, which accounted for 43% of all infant hospitalizations in the database that year. This translated into an infectious disease hospitalization rate of 7,011 hospitalizations per 100,000 live births, or nearly 1 hospitalization for every 14 infants. This figure had not changed from the 1998–1999 rate reported in a study that used data from the National Hospital Discharge Survey (Pediatrics 2003;111:e176–82).

Infants in the second month of life made up the largest group of infants hospitalized for infectious disease (19%). Boys were significantly more likely than girls to be hospitalized for infectious disease (7,815 per 100,000 live births vs. 6,138 per 100,000 live births, respectively).

In addition, Hispanic and non-Hispanic black infants had higher infectious disease hospitalization rates, compared with non-Hispanic white infants, whereas Asian/Pacific Islander infants had the lowest rates of hospitalization.

“Male gender and nonwhite race are both known risk factors for infant death and adverse outcomes (including low birth weight), which may influence the high rate of infectious disease hospitalizations in this group,” the researchers noted.

Lower respiratory tract infections were the most commonly listed diagnoses (59%), followed by diagnoses including kidney, urinary tract, and bladder infections (8%), upper respiratory tract infections (7%), and septicemia (7%).

Respiratory syncytial virus (RSV) “is the most common viral cause of lower respiratory tract infections in infants and, consistent with our findings, RSV bronchiolitis was reported to be the leading primary diagnosis for hospital discharges among infants in previous years,” the researchers reported.

They went on to note that the rate of bronchiolitis-associated hospitalizations increased among infants in the United States from 1980 to 1996 and from 1999 to 2001, “indicating a need for continued surveillance and research into potential vaccines and treatments.”

Hospital cost for all admissions included in the study totaled $690 million.

The median hospital stay was 3 days for a median cost of $2,235 per infant hospitalized.

The researchers acknowledged certain limitations of the study, including the fact that the reporting of infectious disease hospitalizations differs among hospitals, “or by regional differences in admitting practices, and diagnoses may be incomplete or miscoded.”

“It is not possible to identify a patient or to link the patient's hospitalization records in the KID, because patient identifiers are not available; therefore, readmissions would be included in this analysis.”

They also noted that the study did not include data from federal health facilities where many American Indian and Alaska Native patients seek health care.

The researchers had no relevant conflicts of interest to disclose.

Infectious disease hospitalizations accounted for 43% of all infant hospitalizations in the United States in 2003, at a cost of $690 million, results from a large national analysis of hospital records demonstrated.

Younger infants, boys, and nonwhite infants were at increased risk for infectious disease-related hospitalization; the most common diagnoses were lower respiratory tract infections, Krista L. Yorita, M.P.H., of the division of viral and rickettsial disease at the Centers for Disease Control and Prevention and colleagues reported.

“Additional efforts are needed to provide broader access to preventive services, to decrease health care disparities, and to improve the health status for all infants in the United States,” they wrote.

To assess the burden and epidemiological features of infectious disease hospitalizations in the United States, the researchers extracted hospital discharge records from the Kids' Inpatient Database (KID). Produced by the Healthcare Cost and Utilization Project, this database contains pediatric discharge information from short-term, nonfederal, general, and specialty hospitals in 36 states.

The investigators limited their analysis to hospitalizations for infants younger than 1 year of age who had an ICD-9 code for an infectious disease listed as the primary diagnosis on their discharge record (Pediatrics 2008;121:244–52).

In 2003, there were 286,739 infectious disease-related hospitalizations among infants, which accounted for 43% of all infant hospitalizations in the database that year. This translated into an infectious disease hospitalization rate of 7,011 hospitalizations per 100,000 live births, or nearly 1 hospitalization for every 14 infants. This figure had not changed from the 1998–1999 rate reported in a study that used data from the National Hospital Discharge Survey (Pediatrics 2003;111:e176–82).

Infants in the second month of life made up the largest group of infants hospitalized for infectious disease (19%). Boys were significantly more likely than girls to be hospitalized for infectious disease (7,815 per 100,000 live births vs. 6,138 per 100,000 live births, respectively).

In addition, Hispanic and non-Hispanic black infants had higher infectious disease hospitalization rates, compared with non-Hispanic white infants, whereas Asian/Pacific Islander infants had the lowest rates of hospitalization.

“Male gender and nonwhite race are both known risk factors for infant death and adverse outcomes (including low birth weight), which may influence the high rate of infectious disease hospitalizations in this group,” the researchers noted.

Lower respiratory tract infections were the most commonly listed diagnoses (59%), followed by diagnoses including kidney, urinary tract, and bladder infections (8%), upper respiratory tract infections (7%), and septicemia (7%).

Respiratory syncytial virus (RSV) “is the most common viral cause of lower respiratory tract infections in infants and, consistent with our findings, RSV bronchiolitis was reported to be the leading primary diagnosis for hospital discharges among infants in previous years,” the researchers reported.

They went on to note that the rate of bronchiolitis-associated hospitalizations increased among infants in the United States from 1980 to 1996 and from 1999 to 2001, “indicating a need for continued surveillance and research into potential vaccines and treatments.”

Hospital cost for all admissions included in the study totaled $690 million.

The median hospital stay was 3 days for a median cost of $2,235 per infant hospitalized.

The researchers acknowledged certain limitations of the study, including the fact that the reporting of infectious disease hospitalizations differs among hospitals, “or by regional differences in admitting practices, and diagnoses may be incomplete or miscoded.”

“It is not possible to identify a patient or to link the patient's hospitalization records in the KID, because patient identifiers are not available; therefore, readmissions would be included in this analysis.”

They also noted that the study did not include data from federal health facilities where many American Indian and Alaska Native patients seek health care.

The researchers had no relevant conflicts of interest to disclose.

Preschoolers with uncorrected vision problems performed at lower than normal levels on visual-motor function tests that are indicative of success in school performance, but their scores on those tests improved within 6 weeks of receiving prescription glasses to correct their vision, results from a controlled study demonstrated.

The study, conducted by researchers from the University of California, San Diego, followed 70 children (aged 3–5 years) from low- income families who were seen by providers on the university's mobile eye clinic, which serves preschoolers who attend federally funded Head Start programs and the state-funded San Diego Unified School District.

At baseline, 35 children had normal vision and 35 had ametropia (farsightedness, nearsightedness, or astigmatism). All of them took two standardized tests that relate directly to future school performance: the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI), a nonverbal test for children aged 3–7 years that requires them to copy 18 large geometric figures in a sequence of increasing difficulty, and the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), which contains a performance scale that has six subtests involving visual-motor skills, spatial analysis, visual perception, and planning, and a verbal scale that involves six subtests of verbal abilities.

After baseline testing, children in the ametropia group received prescription glasses to correct their vision. The researchers repeated the VMI and the WPPSI-R 6 weeks later in all 70 study participants (Arch. Ophthalmol. 2008;126:252-8).

At baseline, children in the ametropia group scored significantly lower on the two tests, compared with the normal-vision group. After 6 weeks of vision correction, children in the ametropia group had significant improvements on the VMI, compared with the normal-vision group.

Children in the ametropia group improved on WPPSI-R scores at 6 weeks, but those scores did not differ significantly from those in the normal-vision group. The researchers speculate that the WPPSI-R may be less sensitive to visual-motor integration skills than the VMI. They are currently following the children to see if their WPPSI-R scores change further over time.

The results suggest early identification and correction of ametropia “should optimize cognitive development and learning, at least in the [low-income] studied sample,” said the authors, who were led by Dr. Stuart I. Brown of the university's department of ophthalmology.

The study was supported in part by the Foster Fellowship in Vision and Development and Research to Prevent Blindness. The authors had no relevant conflicts of interest to disclose.

Preschoolers with uncorrected vision problems performed at lower than normal levels on visual-motor function tests that are indicative of success in school performance, but their scores on those tests improved within 6 weeks of receiving prescription glasses to correct their vision, results from a controlled study demonstrated.

The study, conducted by researchers from the University of California, San Diego, followed 70 children (aged 3–5 years) from low- income families who were seen by providers on the university's mobile eye clinic, which serves preschoolers who attend federally funded Head Start programs and the state-funded San Diego Unified School District.

At baseline, 35 children had normal vision and 35 had ametropia (farsightedness, nearsightedness, or astigmatism). All of them took two standardized tests that relate directly to future school performance: the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI), a nonverbal test for children aged 3–7 years that requires them to copy 18 large geometric figures in a sequence of increasing difficulty, and the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), which contains a performance scale that has six subtests involving visual-motor skills, spatial analysis, visual perception, and planning, and a verbal scale that involves six subtests of verbal abilities.

After baseline testing, children in the ametropia group received prescription glasses to correct their vision. The researchers repeated the VMI and the WPPSI-R 6 weeks later in all 70 study participants (Arch. Ophthalmol. 2008;126:252-8).

At baseline, children in the ametropia group scored significantly lower on the two tests, compared with the normal-vision group. After 6 weeks of vision correction, children in the ametropia group had significant improvements on the VMI, compared with the normal-vision group.

Children in the ametropia group improved on WPPSI-R scores at 6 weeks, but those scores did not differ significantly from those in the normal-vision group. The researchers speculate that the WPPSI-R may be less sensitive to visual-motor integration skills than the VMI. They are currently following the children to see if their WPPSI-R scores change further over time.

The results suggest early identification and correction of ametropia “should optimize cognitive development and learning, at least in the [low-income] studied sample,” said the authors, who were led by Dr. Stuart I. Brown of the university's department of ophthalmology.

The study was supported in part by the Foster Fellowship in Vision and Development and Research to Prevent Blindness. The authors had no relevant conflicts of interest to disclose.

Preschoolers with uncorrected vision problems performed at lower than normal levels on visual-motor function tests that are indicative of success in school performance, but their scores on those tests improved within 6 weeks of receiving prescription glasses to correct their vision, results from a controlled study demonstrated.

The study, conducted by researchers from the University of California, San Diego, followed 70 children (aged 3–5 years) from low- income families who were seen by providers on the university's mobile eye clinic, which serves preschoolers who attend federally funded Head Start programs and the state-funded San Diego Unified School District.

At baseline, 35 children had normal vision and 35 had ametropia (farsightedness, nearsightedness, or astigmatism). All of them took two standardized tests that relate directly to future school performance: the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI), a nonverbal test for children aged 3–7 years that requires them to copy 18 large geometric figures in a sequence of increasing difficulty, and the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), which contains a performance scale that has six subtests involving visual-motor skills, spatial analysis, visual perception, and planning, and a verbal scale that involves six subtests of verbal abilities.

After baseline testing, children in the ametropia group received prescription glasses to correct their vision. The researchers repeated the VMI and the WPPSI-R 6 weeks later in all 70 study participants (Arch. Ophthalmol. 2008;126:252-8).

At baseline, children in the ametropia group scored significantly lower on the two tests, compared with the normal-vision group. After 6 weeks of vision correction, children in the ametropia group had significant improvements on the VMI, compared with the normal-vision group.

Children in the ametropia group improved on WPPSI-R scores at 6 weeks, but those scores did not differ significantly from those in the normal-vision group. The researchers speculate that the WPPSI-R may be less sensitive to visual-motor integration skills than the VMI. They are currently following the children to see if their WPPSI-R scores change further over time.

The results suggest early identification and correction of ametropia “should optimize cognitive development and learning, at least in the [low-income] studied sample,” said the authors, who were led by Dr. Stuart I. Brown of the university's department of ophthalmology.

The study was supported in part by the Foster Fellowship in Vision and Development and Research to Prevent Blindness. The authors had no relevant conflicts of interest to disclose.

Since its debut in April of 2007, the Eczema Center at Rady Children's Hospital in San Diego has received hundreds of e-mails, phone calls, and visits from families in western states and some from the East Coast, many desperate to find relief for their children's eczema.

The bustle of activity illustrates the rising prevalence of eczema, which has more than doubled among American children since 1960, from a prevalence of 7% to a range of 15%–20%. “There is clearly a rising prevalence of atopic dermatitis in the United States and throughout the world, and it seems to parallel other allergic conditions which include asthma, allergic rhinitis, and food allergy,” the center's director, Dr. Lawrence F. Eichenfield, said in an interview. “This creates a whole set of questions regarding why and how can it be mediated. It also raises the question: Are these conditions related? We know that life-threatening food allergies are much more common than they used to be, and we know that food allergies are much more common in atopic dermatitis patients. But how important are food allergies in atopic dermatitis? That's a different question.”

The three key components to the Eczema Center include clinical, translational, and basic science research; comprehensive, individualized patient care; and an intensive educational intervention for patients and their families, including “atopic dermatitis school” led by a nurse with expertise in the disease, and detailed eczema management handouts which can be downloaded from the center's Web site (www.eczemacenter.org

The education component is crucial, Dr. Eichenfield said, because studies in the medical literature have demonstrated that intensive education is more effective in impacting eczema than is traditional education. A study in Germany found that children whose parents received 6 weeks of intensive education in the management of atopic dermatitis fared better at 1 year follow-up compared with those who did not (BMJ 2006;332:933–8).

To illustrate the success of the Eczema Center model, Dr. Eichenfield described the recent case of a 2-year-old child who had severe inflammatory eczema with a secondary bacterial infection that involved 60%–70% of body surface area, recalled Dr. Eichenfield, chief of pediatric and adolescent dermatology at Rady Children's Hospital.

Dr. Eichenfield prescribed aggressive topical corticosteroid therapy with wet wraps and a standard course of antibiotics. The family members attended atopic dermatitis school in which they learned to not fear using an appropriate quantity of mid-strength topical corticosteroid. In 2–3 weeks, the child was 90%–95% better and “was easily transitioned to a maintenance regimen of only intermittent prescriptive medicines with excellent disease control over the next 4 months,” he said. “The intervention wasn't different than what we did before the Eczema Center was established, but having the dedicated nurse to explain how to do the wet wrap therapy, and providing the opportunity for the parents to explore their questions and concerns about safety with other families in the atopic dermatitis school, made them feel comfortable taking on a regimen that was very effective in treating the disease with a minimum of stronger medicine.”

The mission of the medical center also includes efforts to improve the education of health professionals about eczema. Dr. Eichenfield and his associates recently received a Program for Innovative Continuing Medical Education in Dermatology grant from the American Academy of Dermatology to develop new ways to educate providers about the disease using podcasts and other Web-based material. And the center will cosponsor the annual meeting of the National Eczema Association in San Diego July 24–27.

The center, which moved into dedicated office space in April of 2008, operates in conjunction with the pediatric and adolescent dermatology department at Rady and the University of California, San Diego; the dermatology research unit at Rady; the department of pediatrics and the division of dermatology in the department of medicine at the university; and Children's Specialists of San Diego, a group of more than 150 specialists in child care.

The rising prevalence of atopic dermatitis worldwide seems to parallel other allergic conditions. DR. EICHENFIELD

Since its debut in April of 2007, the Eczema Center at Rady Children's Hospital in San Diego has received hundreds of e-mails, phone calls, and visits from families in western states and some from the East Coast, many desperate to find relief for their children's eczema.

The bustle of activity illustrates the rising prevalence of eczema, which has more than doubled among American children since 1960, from a prevalence of 7% to a range of 15%–20%. “There is clearly a rising prevalence of atopic dermatitis in the United States and throughout the world, and it seems to parallel other allergic conditions which include asthma, allergic rhinitis, and food allergy,” the center's director, Dr. Lawrence F. Eichenfield, said in an interview. “This creates a whole set of questions regarding why and how can it be mediated. It also raises the question: Are these conditions related? We know that life-threatening food allergies are much more common than they used to be, and we know that food allergies are much more common in atopic dermatitis patients. But how important are food allergies in atopic dermatitis? That's a different question.”

The three key components to the Eczema Center include clinical, translational, and basic science research; comprehensive, individualized patient care; and an intensive educational intervention for patients and their families, including “atopic dermatitis school” led by a nurse with expertise in the disease, and detailed eczema management handouts which can be downloaded from the center's Web site (www.eczemacenter.org

The education component is crucial, Dr. Eichenfield said, because studies in the medical literature have demonstrated that intensive education is more effective in impacting eczema than is traditional education. A study in Germany found that children whose parents received 6 weeks of intensive education in the management of atopic dermatitis fared better at 1 year follow-up compared with those who did not (BMJ 2006;332:933–8).

To illustrate the success of the Eczema Center model, Dr. Eichenfield described the recent case of a 2-year-old child who had severe inflammatory eczema with a secondary bacterial infection that involved 60%–70% of body surface area, recalled Dr. Eichenfield, chief of pediatric and adolescent dermatology at Rady Children's Hospital.

Dr. Eichenfield prescribed aggressive topical corticosteroid therapy with wet wraps and a standard course of antibiotics. The family members attended atopic dermatitis school in which they learned to not fear using an appropriate quantity of mid-strength topical corticosteroid. In 2–3 weeks, the child was 90%–95% better and “was easily transitioned to a maintenance regimen of only intermittent prescriptive medicines with excellent disease control over the next 4 months,” he said. “The intervention wasn't different than what we did before the Eczema Center was established, but having the dedicated nurse to explain how to do the wet wrap therapy, and providing the opportunity for the parents to explore their questions and concerns about safety with other families in the atopic dermatitis school, made them feel comfortable taking on a regimen that was very effective in treating the disease with a minimum of stronger medicine.”

The mission of the medical center also includes efforts to improve the education of health professionals about eczema. Dr. Eichenfield and his associates recently received a Program for Innovative Continuing Medical Education in Dermatology grant from the American Academy of Dermatology to develop new ways to educate providers about the disease using podcasts and other Web-based material. And the center will cosponsor the annual meeting of the National Eczema Association in San Diego July 24–27.

The center, which moved into dedicated office space in April of 2008, operates in conjunction with the pediatric and adolescent dermatology department at Rady and the University of California, San Diego; the dermatology research unit at Rady; the department of pediatrics and the division of dermatology in the department of medicine at the university; and Children's Specialists of San Diego, a group of more than 150 specialists in child care.

The rising prevalence of atopic dermatitis worldwide seems to parallel other allergic conditions. DR. EICHENFIELD

Since its debut in April of 2007, the Eczema Center at Rady Children's Hospital in San Diego has received hundreds of e-mails, phone calls, and visits from families in western states and some from the East Coast, many desperate to find relief for their children's eczema.

The bustle of activity illustrates the rising prevalence of eczema, which has more than doubled among American children since 1960, from a prevalence of 7% to a range of 15%–20%. “There is clearly a rising prevalence of atopic dermatitis in the United States and throughout the world, and it seems to parallel other allergic conditions which include asthma, allergic rhinitis, and food allergy,” the center's director, Dr. Lawrence F. Eichenfield, said in an interview. “This creates a whole set of questions regarding why and how can it be mediated. It also raises the question: Are these conditions related? We know that life-threatening food allergies are much more common than they used to be, and we know that food allergies are much more common in atopic dermatitis patients. But how important are food allergies in atopic dermatitis? That's a different question.”

The three key components to the Eczema Center include clinical, translational, and basic science research; comprehensive, individualized patient care; and an intensive educational intervention for patients and their families, including “atopic dermatitis school” led by a nurse with expertise in the disease, and detailed eczema management handouts which can be downloaded from the center's Web site (www.eczemacenter.org

The education component is crucial, Dr. Eichenfield said, because studies in the medical literature have demonstrated that intensive education is more effective in impacting eczema than is traditional education. A study in Germany found that children whose parents received 6 weeks of intensive education in the management of atopic dermatitis fared better at 1 year follow-up compared with those who did not (BMJ 2006;332:933–8).

To illustrate the success of the Eczema Center model, Dr. Eichenfield described the recent case of a 2-year-old child who had severe inflammatory eczema with a secondary bacterial infection that involved 60%–70% of body surface area, recalled Dr. Eichenfield, chief of pediatric and adolescent dermatology at Rady Children's Hospital.

Dr. Eichenfield prescribed aggressive topical corticosteroid therapy with wet wraps and a standard course of antibiotics. The family members attended atopic dermatitis school in which they learned to not fear using an appropriate quantity of mid-strength topical corticosteroid. In 2–3 weeks, the child was 90%–95% better and “was easily transitioned to a maintenance regimen of only intermittent prescriptive medicines with excellent disease control over the next 4 months,” he said. “The intervention wasn't different than what we did before the Eczema Center was established, but having the dedicated nurse to explain how to do the wet wrap therapy, and providing the opportunity for the parents to explore their questions and concerns about safety with other families in the atopic dermatitis school, made them feel comfortable taking on a regimen that was very effective in treating the disease with a minimum of stronger medicine.”

The mission of the medical center also includes efforts to improve the education of health professionals about eczema. Dr. Eichenfield and his associates recently received a Program for Innovative Continuing Medical Education in Dermatology grant from the American Academy of Dermatology to develop new ways to educate providers about the disease using podcasts and other Web-based material. And the center will cosponsor the annual meeting of the National Eczema Association in San Diego July 24–27.

The center, which moved into dedicated office space in April of 2008, operates in conjunction with the pediatric and adolescent dermatology department at Rady and the University of California, San Diego; the dermatology research unit at Rady; the department of pediatrics and the division of dermatology in the department of medicine at the university; and Children's Specialists of San Diego, a group of more than 150 specialists in child care.

The rising prevalence of atopic dermatitis worldwide seems to parallel other allergic conditions. DR. EICHENFIELD

CORONADO, CALIF. – One-year remission from substance abuse disorder among Native American veterans does not reduce the prevalence of mood and anxiety disorders, gambling disorders, or posttraumatic stress symptoms, results from a community survey demonstrated.

However, 1-year remission is associated with better rates of social function and fewer psychological symptoms, researchers led by Dr. Joseph J. Westermeyer reported during a poster session at the annual meeting of the American Academy of Addiction Psychiatry.

“Remitted patients should be informed about, and screened for, internalizing and externalizing disorders,” they wrote. “Remission improves the lives of [Native American] veterans.”

In an effort to assess whether 1-year remission from substance abuse disorders was associated with mental health improvement, Dr. Westermeyer and his associates collected data from a community-based sample of 558 Native American veterans from the Minneapolis VA catchment area, including remission assessed by DSM III-R criteria for 1-year remission; any lifetime and current anxiety disorder or mood disorder; and current social function as assessed by employment status, marital status, type of residence, and level of education.

Of the 558 patients, 359 (64%) had no lifetime history of substance abuse disorder, while 199 (36%) had a lifetime prevalence of substance abuse disorder. Of these 199, 82 (41%), with a mean age of 43 years, were in remission from substance abuse disorder, and 117 (59%), with a mean age of 48, were not.

The researchers pointed out that the estimated lifetime prevalence of substance abuse disorder in the general population of the United States is 14%, while the remission rate is at 74% (Arch. Gen. Psychiatry 2005;62:593–602). These figures stand in stark contrast to the rates reported in this sample of Native Americans.

Compared with the current clinical characteristics of Native American veterans with no lifetime history of substance abuse disorder, those with substance abuse disorder in remission manifest 10% more distress on the Brief Symptom Inventory and 20% more distress on the Posttraumatic Symptom Checklist; two- to threefold higher rates of internalizing disorders; a threefold higher rate of pathological gambling, and two- to threefold higher rates of mental health treatment.

There were no differences between the two groups in the rates of current antisocial personality disorder and social competence, reported Dr. Westermeyer, chief of psychiatry at the Minneapolis VA Hospital and a professor of psychiatry at the University of Minnesota, Minneapolis.

Comparison of Native American veterans who had substance abuse disorder in remission with those in active substance abuse revealed no differences in the rates of internalizing or externalizing disorders, no differences in symptoms based on the Brief Symptom Inventory, and no differences in the rates of mental health treatment.

Veterans in active substance abuse demonstrated more PTSD symptoms, more negative attitudes toward seeking treatment, and less social competence in terms of managing a job, residence, and marriage, compared with those in remission.

The researchers emphasized that the findings may be generalizable to nonveterans, non-Native Americans, or Native Americans from other geographic regions.

CORONADO, CALIF. – One-year remission from substance abuse disorder among Native American veterans does not reduce the prevalence of mood and anxiety disorders, gambling disorders, or posttraumatic stress symptoms, results from a community survey demonstrated.

However, 1-year remission is associated with better rates of social function and fewer psychological symptoms, researchers led by Dr. Joseph J. Westermeyer reported during a poster session at the annual meeting of the American Academy of Addiction Psychiatry.

“Remitted patients should be informed about, and screened for, internalizing and externalizing disorders,” they wrote. “Remission improves the lives of [Native American] veterans.”

In an effort to assess whether 1-year remission from substance abuse disorders was associated with mental health improvement, Dr. Westermeyer and his associates collected data from a community-based sample of 558 Native American veterans from the Minneapolis VA catchment area, including remission assessed by DSM III-R criteria for 1-year remission; any lifetime and current anxiety disorder or mood disorder; and current social function as assessed by employment status, marital status, type of residence, and level of education.

Of the 558 patients, 359 (64%) had no lifetime history of substance abuse disorder, while 199 (36%) had a lifetime prevalence of substance abuse disorder. Of these 199, 82 (41%), with a mean age of 43 years, were in remission from substance abuse disorder, and 117 (59%), with a mean age of 48, were not.

The researchers pointed out that the estimated lifetime prevalence of substance abuse disorder in the general population of the United States is 14%, while the remission rate is at 74% (Arch. Gen. Psychiatry 2005;62:593–602). These figures stand in stark contrast to the rates reported in this sample of Native Americans.

Compared with the current clinical characteristics of Native American veterans with no lifetime history of substance abuse disorder, those with substance abuse disorder in remission manifest 10% more distress on the Brief Symptom Inventory and 20% more distress on the Posttraumatic Symptom Checklist; two- to threefold higher rates of internalizing disorders; a threefold higher rate of pathological gambling, and two- to threefold higher rates of mental health treatment.

There were no differences between the two groups in the rates of current antisocial personality disorder and social competence, reported Dr. Westermeyer, chief of psychiatry at the Minneapolis VA Hospital and a professor of psychiatry at the University of Minnesota, Minneapolis.

Comparison of Native American veterans who had substance abuse disorder in remission with those in active substance abuse revealed no differences in the rates of internalizing or externalizing disorders, no differences in symptoms based on the Brief Symptom Inventory, and no differences in the rates of mental health treatment.

Veterans in active substance abuse demonstrated more PTSD symptoms, more negative attitudes toward seeking treatment, and less social competence in terms of managing a job, residence, and marriage, compared with those in remission.

The researchers emphasized that the findings may be generalizable to nonveterans, non-Native Americans, or Native Americans from other geographic regions.

CORONADO, CALIF. – One-year remission from substance abuse disorder among Native American veterans does not reduce the prevalence of mood and anxiety disorders, gambling disorders, or posttraumatic stress symptoms, results from a community survey demonstrated.

However, 1-year remission is associated with better rates of social function and fewer psychological symptoms, researchers led by Dr. Joseph J. Westermeyer reported during a poster session at the annual meeting of the American Academy of Addiction Psychiatry.

“Remitted patients should be informed about, and screened for, internalizing and externalizing disorders,” they wrote. “Remission improves the lives of [Native American] veterans.”

In an effort to assess whether 1-year remission from substance abuse disorders was associated with mental health improvement, Dr. Westermeyer and his associates collected data from a community-based sample of 558 Native American veterans from the Minneapolis VA catchment area, including remission assessed by DSM III-R criteria for 1-year remission; any lifetime and current anxiety disorder or mood disorder; and current social function as assessed by employment status, marital status, type of residence, and level of education.

Of the 558 patients, 359 (64%) had no lifetime history of substance abuse disorder, while 199 (36%) had a lifetime prevalence of substance abuse disorder. Of these 199, 82 (41%), with a mean age of 43 years, were in remission from substance abuse disorder, and 117 (59%), with a mean age of 48, were not.

The researchers pointed out that the estimated lifetime prevalence of substance abuse disorder in the general population of the United States is 14%, while the remission rate is at 74% (Arch. Gen. Psychiatry 2005;62:593–602). These figures stand in stark contrast to the rates reported in this sample of Native Americans.

Compared with the current clinical characteristics of Native American veterans with no lifetime history of substance abuse disorder, those with substance abuse disorder in remission manifest 10% more distress on the Brief Symptom Inventory and 20% more distress on the Posttraumatic Symptom Checklist; two- to threefold higher rates of internalizing disorders; a threefold higher rate of pathological gambling, and two- to threefold higher rates of mental health treatment.

There were no differences between the two groups in the rates of current antisocial personality disorder and social competence, reported Dr. Westermeyer, chief of psychiatry at the Minneapolis VA Hospital and a professor of psychiatry at the University of Minnesota, Minneapolis.

Comparison of Native American veterans who had substance abuse disorder in remission with those in active substance abuse revealed no differences in the rates of internalizing or externalizing disorders, no differences in symptoms based on the Brief Symptom Inventory, and no differences in the rates of mental health treatment.

Veterans in active substance abuse demonstrated more PTSD symptoms, more negative attitudes toward seeking treatment, and less social competence in terms of managing a job, residence, and marriage, compared with those in remission.

The researchers emphasized that the findings may be generalizable to nonveterans, non-Native Americans, or Native Americans from other geographic regions.

SAN DIEGO – Before Laura Merchant begins trauma-focused cognitive-behavioral therapy with children and their caregivers, she provides an estimate for them of the number of treatment sessions that will be required for effective intervention.

This approach “has made a huge difference, especially for older teens and parents, when they have a sense that [therapy] won't take forever,” said Ms. Merchant, a licensed clinical social worker who is assistant director of the Seattle-based Harborview Center for Sexual Assault and Traumatic Stress. “It gives them a sense of hope.”

When developing a treatment plan, she uses her clinical judgment to estimate the number of sessions. “I tell them, 'I think this is something that may take 5 sessions, or 12 sessions,' whatever I think it may be,” she said at a conference sponsored by Rady Children's Hospital, San Diego. Then she tells them, “When we get around that time, we're going to see how things are going and see if we need to renegotiate [the number of sessions] one more time.”

Establishing a functional outcome or goal with the children and caregivers is another important part of effective trauma-focused cognitive-behavioral therapy. “My original therapeutic framework was to be very nondirective and very client centered,” Ms. Merchant commented. “I still believe we need to be client centered, but I'm also going to hold in my head what the goals are that we've agreed upon, and I'm going to keep track of that information so that when the clients get off track a bit, my job is to kind of rein them back and get refocused and readjusted so that leads to a functional outcome.”

She said she favors a treatment approach that focuses on the here and now. “I'm also going to be focusing on [current] thoughts and feelings, and how those thoughts and feelings are impacting behaviors,” Ms. Merchant explained. Assessing how the child is functioning at home, at school, and with peers is important. “If they have problems in those areas, it probably means that they need some help,” she said.

Common affective trauma symptoms include fear, sadness, anger, anxiety, and affective dysregulation. The ability to be levelheaded “can be challenging” in this patient population, she said.

Behavioral symptoms may include avoidance; modeling maladaptive behaviors such as sexualized and violent behaviors; anger outbursts; substance abuse; self-injury; defiance/disobedience; and trouble interacting with peers.

Ms. Merchant recommended the following measures: the UCLA Posttraumatic Stress Disorder Index for exposure to trauma, the Child PTSD Symptom Scale for posttraumatic stress symptoms, the brief version of the Screen for Child Anxiety Related Emotional Disorders (SCARED) for anxiety and posttraumatic stress symptoms, the Mood and Feelings Questionnaire for depression, and the Pediatric Symptom Checklist to screen for psychosocial problems.

Ms. Merchant had no relevant conflicts of interest to disclose.

Keep Questions Open Ended

Laura Merchant uses open-ended questions when counseling children who have been victims of trauma or sexual abuse. Common questions may include:

▸ Tell me about the times you think about it. What are you doing?

▸ When you think about it, what do you think about?

▸ How bothered are you when you think about it?

▸ What do you do to make it stop? Does it work?

▸ What thoughts upset you most?

▸ What do you tell yourself when you have these thoughts?

SAN DIEGO – Before Laura Merchant begins trauma-focused cognitive-behavioral therapy with children and their caregivers, she provides an estimate for them of the number of treatment sessions that will be required for effective intervention.

This approach “has made a huge difference, especially for older teens and parents, when they have a sense that [therapy] won't take forever,” said Ms. Merchant, a licensed clinical social worker who is assistant director of the Seattle-based Harborview Center for Sexual Assault and Traumatic Stress. “It gives them a sense of hope.”

When developing a treatment plan, she uses her clinical judgment to estimate the number of sessions. “I tell them, 'I think this is something that may take 5 sessions, or 12 sessions,' whatever I think it may be,” she said at a conference sponsored by Rady Children's Hospital, San Diego. Then she tells them, “When we get around that time, we're going to see how things are going and see if we need to renegotiate [the number of sessions] one more time.”

Establishing a functional outcome or goal with the children and caregivers is another important part of effective trauma-focused cognitive-behavioral therapy. “My original therapeutic framework was to be very nondirective and very client centered,” Ms. Merchant commented. “I still believe we need to be client centered, but I'm also going to hold in my head what the goals are that we've agreed upon, and I'm going to keep track of that information so that when the clients get off track a bit, my job is to kind of rein them back and get refocused and readjusted so that leads to a functional outcome.”

She said she favors a treatment approach that focuses on the here and now. “I'm also going to be focusing on [current] thoughts and feelings, and how those thoughts and feelings are impacting behaviors,” Ms. Merchant explained. Assessing how the child is functioning at home, at school, and with peers is important. “If they have problems in those areas, it probably means that they need some help,” she said.

Common affective trauma symptoms include fear, sadness, anger, anxiety, and affective dysregulation. The ability to be levelheaded “can be challenging” in this patient population, she said.

Behavioral symptoms may include avoidance; modeling maladaptive behaviors such as sexualized and violent behaviors; anger outbursts; substance abuse; self-injury; defiance/disobedience; and trouble interacting with peers.

Ms. Merchant recommended the following measures: the UCLA Posttraumatic Stress Disorder Index for exposure to trauma, the Child PTSD Symptom Scale for posttraumatic stress symptoms, the brief version of the Screen for Child Anxiety Related Emotional Disorders (SCARED) for anxiety and posttraumatic stress symptoms, the Mood and Feelings Questionnaire for depression, and the Pediatric Symptom Checklist to screen for psychosocial problems.

Ms. Merchant had no relevant conflicts of interest to disclose.

Keep Questions Open Ended

Laura Merchant uses open-ended questions when counseling children who have been victims of trauma or sexual abuse. Common questions may include:

▸ Tell me about the times you think about it. What are you doing?

▸ When you think about it, what do you think about?

▸ How bothered are you when you think about it?

▸ What do you do to make it stop? Does it work?

▸ What thoughts upset you most?

▸ What do you tell yourself when you have these thoughts?

SAN DIEGO – Before Laura Merchant begins trauma-focused cognitive-behavioral therapy with children and their caregivers, she provides an estimate for them of the number of treatment sessions that will be required for effective intervention.

This approach “has made a huge difference, especially for older teens and parents, when they have a sense that [therapy] won't take forever,” said Ms. Merchant, a licensed clinical social worker who is assistant director of the Seattle-based Harborview Center for Sexual Assault and Traumatic Stress. “It gives them a sense of hope.”

When developing a treatment plan, she uses her clinical judgment to estimate the number of sessions. “I tell them, 'I think this is something that may take 5 sessions, or 12 sessions,' whatever I think it may be,” she said at a conference sponsored by Rady Children's Hospital, San Diego. Then she tells them, “When we get around that time, we're going to see how things are going and see if we need to renegotiate [the number of sessions] one more time.”

Establishing a functional outcome or goal with the children and caregivers is another important part of effective trauma-focused cognitive-behavioral therapy. “My original therapeutic framework was to be very nondirective and very client centered,” Ms. Merchant commented. “I still believe we need to be client centered, but I'm also going to hold in my head what the goals are that we've agreed upon, and I'm going to keep track of that information so that when the clients get off track a bit, my job is to kind of rein them back and get refocused and readjusted so that leads to a functional outcome.”

She said she favors a treatment approach that focuses on the here and now. “I'm also going to be focusing on [current] thoughts and feelings, and how those thoughts and feelings are impacting behaviors,” Ms. Merchant explained. Assessing how the child is functioning at home, at school, and with peers is important. “If they have problems in those areas, it probably means that they need some help,” she said.

Common affective trauma symptoms include fear, sadness, anger, anxiety, and affective dysregulation. The ability to be levelheaded “can be challenging” in this patient population, she said.

Behavioral symptoms may include avoidance; modeling maladaptive behaviors such as sexualized and violent behaviors; anger outbursts; substance abuse; self-injury; defiance/disobedience; and trouble interacting with peers.

Ms. Merchant recommended the following measures: the UCLA Posttraumatic Stress Disorder Index for exposure to trauma, the Child PTSD Symptom Scale for posttraumatic stress symptoms, the brief version of the Screen for Child Anxiety Related Emotional Disorders (SCARED) for anxiety and posttraumatic stress symptoms, the Mood and Feelings Questionnaire for depression, and the Pediatric Symptom Checklist to screen for psychosocial problems.

Ms. Merchant had no relevant conflicts of interest to disclose.

Keep Questions Open Ended

Laura Merchant uses open-ended questions when counseling children who have been victims of trauma or sexual abuse. Common questions may include:

▸ Tell me about the times you think about it. What are you doing?

▸ When you think about it, what do you think about?

▸ How bothered are you when you think about it?

▸ What do you do to make it stop? Does it work?

▸ What thoughts upset you most?

▸ What do you tell yourself when you have these thoughts?

SALT LAKE CITY — It's a bad thing when a medication error occurs in a nursing facility. It's a good thing when that error is reported and the result is improved procedures. But it's a common thing for a wrong medication or dose to go unreported because the facility doesn't have a readily available reporting system or form.

That's the key message from results of a novel study that set out to identify barriers to medication error reporting in nursing homes.

“Efforts to improve medication error reporting frequency should focus on organizational rather than on individual-level interventions,” Dr. Steven M. Handler suggested at the annual symposium of the American Medical Directors Association.

Medication errors, as defined by the Centers for Medicare and Medicaid Services under F-tag 332, include preparation or administration of drugs not in accordance with physician's orders, manufacturer's specifications, or accepted professional standards. Reporting of such errors is important so facilities can understand the causes of errors, make responsible parties aware of correctable problems, and improve patient care, Dr. Handler said.

In 2005, Dr. Handler of the division of geriatric medicine at the University of Pittsburgh and his associates created a survey by first asking physicians, pharmacists, nurses, and other advanced practitioners, “From the perspective of your profession, what are the reasons for not reporting medication errors in the nursing home?”

The researchers also asked participants to say whether the obstacles to error reporting were “organizational” (involving the process of reporting medication errors) or “individual” (involving the preferences, abilities, or characteristics of people responsible for reporting errors).

From these preliminary answers, the team created a 20-item survey and administered it to 145 of the health professionals at four nursing homes in Pennsylvania.

The respondents used a five-point scale to score factors in terms of their likelihood of posing a barrier (“very likely” to “very unlikely”) and their potential to be corrected (“not modifiable” to “very modifiable”). The survey's response rate was 68%, Dr. Handler said.

Four of the top five barriers that the respondents considered to be the most modifiable were organizational processes: a lack of a readily available medication-reporting system or forms, a lack of information on how to spot a medication error, a lack of feedback to the reporter or to the rest of the facility on reported medication errors, and a time-consuming error-reporting system or form.

Dr. Handler called the lack of feedback “particularly important. If the expectation is that all medication errors should be reported, then staff should have an equal expectation that all reported medication errors will be reviewed and analyzed, and that some form of action will be taken to prevent the same or similar events from occurring in the future.”

Only one individual obstacle made the list of five most-modifiable barriers to error reporting: Ranked fourth was lack of knowledge of which medication errors should be reported.

“The study results provide a broad-based perspective of the barriers to medication error reporting in the nursing home setting,” Dr. Handler said. “To the best of our knowledge, this represents the first study that's focused on this outcome in the nursing home setting.”

He acknowledged certain limitations of the study, which was published last year (J. Am. Med. Dir. Assoc. 2007;8:568–74). These include the fact that the sample, for convenience, involved only a few nursing homes. In addition, the study excluded the perspective of medication technicians, since the state of Pennsylvania doesn't allow them to administer medications.

The study was supported in part by an AMDA/Pfizer Quality Improvement Award, by a Merck/American Federation for Aging Research Junior Investigator Award in Geriatric Clinical Pharmacology, and by grants from the National Institutes of Health.

'Efforts to improve medication error reporting frequency should focus on organizational … interventions.' DR. HANDLER

SALT LAKE CITY — It's a bad thing when a medication error occurs in a nursing facility. It's a good thing when that error is reported and the result is improved procedures. But it's a common thing for a wrong medication or dose to go unreported because the facility doesn't have a readily available reporting system or form.

That's the key message from results of a novel study that set out to identify barriers to medication error reporting in nursing homes.

“Efforts to improve medication error reporting frequency should focus on organizational rather than on individual-level interventions,” Dr. Steven M. Handler suggested at the annual symposium of the American Medical Directors Association.

Medication errors, as defined by the Centers for Medicare and Medicaid Services under F-tag 332, include preparation or administration of drugs not in accordance with physician's orders, manufacturer's specifications, or accepted professional standards. Reporting of such errors is important so facilities can understand the causes of errors, make responsible parties aware of correctable problems, and improve patient care, Dr. Handler said.

In 2005, Dr. Handler of the division of geriatric medicine at the University of Pittsburgh and his associates created a survey by first asking physicians, pharmacists, nurses, and other advanced practitioners, “From the perspective of your profession, what are the reasons for not reporting medication errors in the nursing home?”

The researchers also asked participants to say whether the obstacles to error reporting were “organizational” (involving the process of reporting medication errors) or “individual” (involving the preferences, abilities, or characteristics of people responsible for reporting errors).

From these preliminary answers, the team created a 20-item survey and administered it to 145 of the health professionals at four nursing homes in Pennsylvania.

The respondents used a five-point scale to score factors in terms of their likelihood of posing a barrier (“very likely” to “very unlikely”) and their potential to be corrected (“not modifiable” to “very modifiable”). The survey's response rate was 68%, Dr. Handler said.

Four of the top five barriers that the respondents considered to be the most modifiable were organizational processes: a lack of a readily available medication-reporting system or forms, a lack of information on how to spot a medication error, a lack of feedback to the reporter or to the rest of the facility on reported medication errors, and a time-consuming error-reporting system or form.

Dr. Handler called the lack of feedback “particularly important. If the expectation is that all medication errors should be reported, then staff should have an equal expectation that all reported medication errors will be reviewed and analyzed, and that some form of action will be taken to prevent the same or similar events from occurring in the future.”

Only one individual obstacle made the list of five most-modifiable barriers to error reporting: Ranked fourth was lack of knowledge of which medication errors should be reported.

“The study results provide a broad-based perspective of the barriers to medication error reporting in the nursing home setting,” Dr. Handler said. “To the best of our knowledge, this represents the first study that's focused on this outcome in the nursing home setting.”

He acknowledged certain limitations of the study, which was published last year (J. Am. Med. Dir. Assoc. 2007;8:568–74). These include the fact that the sample, for convenience, involved only a few nursing homes. In addition, the study excluded the perspective of medication technicians, since the state of Pennsylvania doesn't allow them to administer medications.

The study was supported in part by an AMDA/Pfizer Quality Improvement Award, by a Merck/American Federation for Aging Research Junior Investigator Award in Geriatric Clinical Pharmacology, and by grants from the National Institutes of Health.

'Efforts to improve medication error reporting frequency should focus on organizational … interventions.' DR. HANDLER

SALT LAKE CITY — It's a bad thing when a medication error occurs in a nursing facility. It's a good thing when that error is reported and the result is improved procedures. But it's a common thing for a wrong medication or dose to go unreported because the facility doesn't have a readily available reporting system or form.

That's the key message from results of a novel study that set out to identify barriers to medication error reporting in nursing homes.

“Efforts to improve medication error reporting frequency should focus on organizational rather than on individual-level interventions,” Dr. Steven M. Handler suggested at the annual symposium of the American Medical Directors Association.

Medication errors, as defined by the Centers for Medicare and Medicaid Services under F-tag 332, include preparation or administration of drugs not in accordance with physician's orders, manufacturer's specifications, or accepted professional standards. Reporting of such errors is important so facilities can understand the causes of errors, make responsible parties aware of correctable problems, and improve patient care, Dr. Handler said.

In 2005, Dr. Handler of the division of geriatric medicine at the University of Pittsburgh and his associates created a survey by first asking physicians, pharmacists, nurses, and other advanced practitioners, “From the perspective of your profession, what are the reasons for not reporting medication errors in the nursing home?”

The researchers also asked participants to say whether the obstacles to error reporting were “organizational” (involving the process of reporting medication errors) or “individual” (involving the preferences, abilities, or characteristics of people responsible for reporting errors).

From these preliminary answers, the team created a 20-item survey and administered it to 145 of the health professionals at four nursing homes in Pennsylvania.

The respondents used a five-point scale to score factors in terms of their likelihood of posing a barrier (“very likely” to “very unlikely”) and their potential to be corrected (“not modifiable” to “very modifiable”). The survey's response rate was 68%, Dr. Handler said.

Four of the top five barriers that the respondents considered to be the most modifiable were organizational processes: a lack of a readily available medication-reporting system or forms, a lack of information on how to spot a medication error, a lack of feedback to the reporter or to the rest of the facility on reported medication errors, and a time-consuming error-reporting system or form.

Dr. Handler called the lack of feedback “particularly important. If the expectation is that all medication errors should be reported, then staff should have an equal expectation that all reported medication errors will be reviewed and analyzed, and that some form of action will be taken to prevent the same or similar events from occurring in the future.”

Only one individual obstacle made the list of five most-modifiable barriers to error reporting: Ranked fourth was lack of knowledge of which medication errors should be reported.

“The study results provide a broad-based perspective of the barriers to medication error reporting in the nursing home setting,” Dr. Handler said. “To the best of our knowledge, this represents the first study that's focused on this outcome in the nursing home setting.”

He acknowledged certain limitations of the study, which was published last year (J. Am. Med. Dir. Assoc. 2007;8:568–74). These include the fact that the sample, for convenience, involved only a few nursing homes. In addition, the study excluded the perspective of medication technicians, since the state of Pennsylvania doesn't allow them to administer medications.

The study was supported in part by an AMDA/Pfizer Quality Improvement Award, by a Merck/American Federation for Aging Research Junior Investigator Award in Geriatric Clinical Pharmacology, and by grants from the National Institutes of Health.

'Efforts to improve medication error reporting frequency should focus on organizational … interventions.' DR. HANDLER

The way Dr. John A. Kitzhaber sees it, Americans can't afford to sit back and wait for the future of health care to unfold before them; they should assume an active role in shaping its future.

“If people are unable or unwilling to agree among themselves on a vision for the future, the political process cannot and will not do it for them—and we will be destined to continue to be shackled to the failed policies of the past,” he warned at the annual meeting of the Society of Clinical Surgery in Portland, Ore. “By default, we will be allowing our future to become a matter of chance rather than a matter of choice. I think we are better than that.”

In January 2006, Dr. Kitzhaber, the former governor of Oregon, founded the Archimedes Movement, a grassroots organization that takes a “we can do better” approach to the governance and delivery of health care. The movement is “committed to providing a safe forum in which citizens and stakeholders alike can be brought together to create a shared vision of a new health care system, a space in which we can ask, 'If anything were possible, what would a better system look like?'” he said.

The name refers to Archimedes, the Greek mathematician who invented the lever and is reputed to have said, “Give me a lever and a place to stand, and I can move the Earth.”

A key strategy of the effort is to agree on what a new health care system should look like, and to expose the contradictions and inequities of the current system and create a “tension” between the status quo and a vision for a new system.

Dr. Kitzhaber, an emergency physician who governed Oregon from 1995 to 2003, said he believes there should be a different standard for the part of health care that is financed by public resources and the portion that is financed by private resources. “We must demand that we get an actual health benefit for the public dollars we allocate for health care, a positive return on investment, [and] the effective and efficient use of public tax dollars. And since these are public resources—resources held in common—we must demand that their allocation benefits all of our citizens, not just some of them, that it does not leave 47 million people behind.”

As an example, he said that people who wish to buy an expensive brand-name drug when a much cheaper generic is just as effective clinically, and just as safe, should be able to do so with their own personal resources. Public resources should not be used to subsidize the difference in cost. Similarly, he said that expectant parents who want an ultrasound to determine the sex of their unborn child when the procedure is not indicated clinically for a normal term pregnancy should be able to get that—but again, the cost should not be subsidized with public resources.

To date, the Archimedes Movement has conducted public forums and vision-sharing meetings with more than 3,000 Oregonians in 30 chapters, 13 hospital CEOs, 11 insurer and health plan executives, dozens of physicians and nurses, leaders of national state and labor organizations, and representatives of more than 50 non-health-related businesses in the state.

The resulting consensus led to the Oregon Better Health Act, which was introduced in the 2007 Oregon legislature as Senate Bill 27. It proposes that Oregonians have access to a “core benefit” of essential health services, and seeks to realign financial incentives to ensure fair and reasonable payment to providers, value-based cost sharing for consumers, and a transition to a more efficient delivery system.

Although SB 27 did not pass in the 2007 session, the enthusiasm it generated from citizens and stakeholders propelled the Archimedes Movement into the limelight. It also produced three documents that offer a conceptual framework for a new system in the state and that may serve as a foundation for bringing about national reform. The documents—a Statement of Intent, Principles, and a Framework—are available at www.wecandobetter.org

Nowadays, Dr. Kitzhaber and his associates are working to expand the movement to other states, especially Washington and Montana. This strategy stems from the fact that the committee that has jurisdiction over health care in the U.S. Senate is the Senate Finance Committee. Both of Oregon's senators (Democrat Ron Wyden and Republican Gordon Smith) are members of this committee, as is Sen. Maria Cantwell (D-Wash.). The committee is chaired by Sen. Max Baucus (D-Mont.).

Dr. Kitzhaber pointed out that the discourse on health care reform he has heard from the 2008 presidential candidates convinces him that the Archimedes Movement is peaking at the right time. He said that although each of the 2008 presidential candidates has proposals for health care reform, they are all defining the challenge narrowly as just a financing problem related to insurance.

“No candidate of either party has stepped up to honestly acknowledge the reality of fiscal limits, to address the long-term financial stability of the Medicare program, to challenge our current definition of a health care 'benefit,' or to discuss the difficult changes that will have to be made in our delivery system,” he said.

“The very fact that none of these issues are a central part of the national political debate is evidence of the underlying failure in our current governance structure, of the diminishing capacity of our political system to allocate and manage public resources in a way that serves the larger public interest. It is an affirmation of the fact that we cannot solve this crisis by relying solely on our current legislative institutions.”

'We cannot solve this crisis by relying solely on our current legislative institutions.' DR. KITZHABER

The way Dr. John A. Kitzhaber sees it, Americans can't afford to sit back and wait for the future of health care to unfold before them; they should assume an active role in shaping its future.

“If people are unable or unwilling to agree among themselves on a vision for the future, the political process cannot and will not do it for them—and we will be destined to continue to be shackled to the failed policies of the past,” he warned at the annual meeting of the Society of Clinical Surgery in Portland, Ore. “By default, we will be allowing our future to become a matter of chance rather than a matter of choice. I think we are better than that.”

In January 2006, Dr. Kitzhaber, the former governor of Oregon, founded the Archimedes Movement, a grassroots organization that takes a “we can do better” approach to the governance and delivery of health care. The movement is “committed to providing a safe forum in which citizens and stakeholders alike can be brought together to create a shared vision of a new health care system, a space in which we can ask, 'If anything were possible, what would a better system look like?'” he said.

The name refers to Archimedes, the Greek mathematician who invented the lever and is reputed to have said, “Give me a lever and a place to stand, and I can move the Earth.”

A key strategy of the effort is to agree on what a new health care system should look like, and to expose the contradictions and inequities of the current system and create a “tension” between the status quo and a vision for a new system.

Dr. Kitzhaber, an emergency physician who governed Oregon from 1995 to 2003, said he believes there should be a different standard for the part of health care that is financed by public resources and the portion that is financed by private resources. “We must demand that we get an actual health benefit for the public dollars we allocate for health care, a positive return on investment, [and] the effective and efficient use of public tax dollars. And since these are public resources—resources held in common—we must demand that their allocation benefits all of our citizens, not just some of them, that it does not leave 47 million people behind.”

As an example, he said that people who wish to buy an expensive brand-name drug when a much cheaper generic is just as effective clinically, and just as safe, should be able to do so with their own personal resources. Public resources should not be used to subsidize the difference in cost. Similarly, he said that expectant parents who want an ultrasound to determine the sex of their unborn child when the procedure is not indicated clinically for a normal term pregnancy should be able to get that—but again, the cost should not be subsidized with public resources.

To date, the Archimedes Movement has conducted public forums and vision-sharing meetings with more than 3,000 Oregonians in 30 chapters, 13 hospital CEOs, 11 insurer and health plan executives, dozens of physicians and nurses, leaders of national state and labor organizations, and representatives of more than 50 non-health-related businesses in the state.

The resulting consensus led to the Oregon Better Health Act, which was introduced in the 2007 Oregon legislature as Senate Bill 27. It proposes that Oregonians have access to a “core benefit” of essential health services, and seeks to realign financial incentives to ensure fair and reasonable payment to providers, value-based cost sharing for consumers, and a transition to a more efficient delivery system.

Although SB 27 did not pass in the 2007 session, the enthusiasm it generated from citizens and stakeholders propelled the Archimedes Movement into the limelight. It also produced three documents that offer a conceptual framework for a new system in the state and that may serve as a foundation for bringing about national reform. The documents—a Statement of Intent, Principles, and a Framework—are available at www.wecandobetter.org

Nowadays, Dr. Kitzhaber and his associates are working to expand the movement to other states, especially Washington and Montana. This strategy stems from the fact that the committee that has jurisdiction over health care in the U.S. Senate is the Senate Finance Committee. Both of Oregon's senators (Democrat Ron Wyden and Republican Gordon Smith) are members of this committee, as is Sen. Maria Cantwell (D-Wash.). The committee is chaired by Sen. Max Baucus (D-Mont.).

Dr. Kitzhaber pointed out that the discourse on health care reform he has heard from the 2008 presidential candidates convinces him that the Archimedes Movement is peaking at the right time. He said that although each of the 2008 presidential candidates has proposals for health care reform, they are all defining the challenge narrowly as just a financing problem related to insurance.

“No candidate of either party has stepped up to honestly acknowledge the reality of fiscal limits, to address the long-term financial stability of the Medicare program, to challenge our current definition of a health care 'benefit,' or to discuss the difficult changes that will have to be made in our delivery system,” he said.

“The very fact that none of these issues are a central part of the national political debate is evidence of the underlying failure in our current governance structure, of the diminishing capacity of our political system to allocate and manage public resources in a way that serves the larger public interest. It is an affirmation of the fact that we cannot solve this crisis by relying solely on our current legislative institutions.”

'We cannot solve this crisis by relying solely on our current legislative institutions.' DR. KITZHABER

The way Dr. John A. Kitzhaber sees it, Americans can't afford to sit back and wait for the future of health care to unfold before them; they should assume an active role in shaping its future.

“If people are unable or unwilling to agree among themselves on a vision for the future, the political process cannot and will not do it for them—and we will be destined to continue to be shackled to the failed policies of the past,” he warned at the annual meeting of the Society of Clinical Surgery in Portland, Ore. “By default, we will be allowing our future to become a matter of chance rather than a matter of choice. I think we are better than that.”

In January 2006, Dr. Kitzhaber, the former governor of Oregon, founded the Archimedes Movement, a grassroots organization that takes a “we can do better” approach to the governance and delivery of health care. The movement is “committed to providing a safe forum in which citizens and stakeholders alike can be brought together to create a shared vision of a new health care system, a space in which we can ask, 'If anything were possible, what would a better system look like?'” he said.

The name refers to Archimedes, the Greek mathematician who invented the lever and is reputed to have said, “Give me a lever and a place to stand, and I can move the Earth.”

A key strategy of the effort is to agree on what a new health care system should look like, and to expose the contradictions and inequities of the current system and create a “tension” between the status quo and a vision for a new system.

Dr. Kitzhaber, an emergency physician who governed Oregon from 1995 to 2003, said he believes there should be a different standard for the part of health care that is financed by public resources and the portion that is financed by private resources. “We must demand that we get an actual health benefit for the public dollars we allocate for health care, a positive return on investment, [and] the effective and efficient use of public tax dollars. And since these are public resources—resources held in common—we must demand that their allocation benefits all of our citizens, not just some of them, that it does not leave 47 million people behind.”

As an example, he said that people who wish to buy an expensive brand-name drug when a much cheaper generic is just as effective clinically, and just as safe, should be able to do so with their own personal resources. Public resources should not be used to subsidize the difference in cost. Similarly, he said that expectant parents who want an ultrasound to determine the sex of their unborn child when the procedure is not indicated clinically for a normal term pregnancy should be able to get that—but again, the cost should not be subsidized with public resources.

To date, the Archimedes Movement has conducted public forums and vision-sharing meetings with more than 3,000 Oregonians in 30 chapters, 13 hospital CEOs, 11 insurer and health plan executives, dozens of physicians and nurses, leaders of national state and labor organizations, and representatives of more than 50 non-health-related businesses in the state.

The resulting consensus led to the Oregon Better Health Act, which was introduced in the 2007 Oregon legislature as Senate Bill 27. It proposes that Oregonians have access to a “core benefit” of essential health services, and seeks to realign financial incentives to ensure fair and reasonable payment to providers, value-based cost sharing for consumers, and a transition to a more efficient delivery system.

Although SB 27 did not pass in the 2007 session, the enthusiasm it generated from citizens and stakeholders propelled the Archimedes Movement into the limelight. It also produced three documents that offer a conceptual framework for a new system in the state and that may serve as a foundation for bringing about national reform. The documents—a Statement of Intent, Principles, and a Framework—are available at www.wecandobetter.org

Nowadays, Dr. Kitzhaber and his associates are working to expand the movement to other states, especially Washington and Montana. This strategy stems from the fact that the committee that has jurisdiction over health care in the U.S. Senate is the Senate Finance Committee. Both of Oregon's senators (Democrat Ron Wyden and Republican Gordon Smith) are members of this committee, as is Sen. Maria Cantwell (D-Wash.). The committee is chaired by Sen. Max Baucus (D-Mont.).

Dr. Kitzhaber pointed out that the discourse on health care reform he has heard from the 2008 presidential candidates convinces him that the Archimedes Movement is peaking at the right time. He said that although each of the 2008 presidential candidates has proposals for health care reform, they are all defining the challenge narrowly as just a financing problem related to insurance.

“No candidate of either party has stepped up to honestly acknowledge the reality of fiscal limits, to address the long-term financial stability of the Medicare program, to challenge our current definition of a health care 'benefit,' or to discuss the difficult changes that will have to be made in our delivery system,” he said.

“The very fact that none of these issues are a central part of the national political debate is evidence of the underlying failure in our current governance structure, of the diminishing capacity of our political system to allocate and manage public resources in a way that serves the larger public interest. It is an affirmation of the fact that we cannot solve this crisis by relying solely on our current legislative institutions.”

'We cannot solve this crisis by relying solely on our current legislative institutions.' DR. KITZHABER

SALT LAKE CITY — It's hard to know whom among the elderly to screen for thyroid dysfunction because, when it comes to adults without thyroid-disease symptoms, current recommendations from various medical societies differ widely.

The American Thyroid Association recommends screening every 5 years for all women and men older than the age of 35 years. The American College of Physicians' guideline—although officially inactive because it's more than 5 years old—recommends screening only women who are older than 50 and who show incidental symptoms of thyroid disease. And the U.S. Preventive Services Task Force says there is insufficient evidence for or against screening anyone.

Nevertheless, Dr. Naushira Pandya said that the consensus among geriatricians is to screen men and women aged 65 years and older at least once, and thereafter if they develop symptoms of hypothyroidism or hyperthyroidism. The reason, she said, is that so many diseases and drugs common in elderly people can affect the thyroid.

Speaking at the annual symposium of the American Medical Directors Association, Dr. Pandya offered a list of conditions that warrant testing for thyroid dysfunction. These include previous thyroid disease or surgery; the presence of a goiter or nodule; type 1 diabetes; previous postpartum thyroid dysfunction; Down or Turner's syndrome; chronic kidney disease; previous irradiation of the head and neck; radical pharyngeal surgery; history of polycystic ovary syndrome; pituitary surgery or irradiation; and severe head injury.

The list of drugs that affect thyroid function is also lengthy. Lithium, iodine (including that in x-ray contrast media and kelp nutritional supplements), interleukin-2, and interferon-α may cause hypothyroidism, whereas iodine, interleukins, and interferons may cause hyperthyroidism, said Dr. Pandya of the department of internal medicine at Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla. In addition, glucocorticoids, iodine, propylthiouracil, β-blockers, and amiodarone may impair the conversion of T₄ to T₃, whereas dopamine, dobutamine, glucocorticoids, phenytoin, bromocriptine, and octreotide may suppress thyroid- stimulating hormone.

Carbamazepine, phenytoin, rifampin, and phenobarbital may increase clearance of T₄, whereas salsalate, salicylates, nonsteroidal anti-inflammatory drugs, furosemide, and heparin may reduce binding of T₄ to thyroid-binding globulin. Dr. Pandya also noted aluminum hydroxide, cholestyramine, ferrous sulfate, sucralfate, and cation exchange resins influence the absorption of thyroxine.

Compared with their younger counterparts, older people are more likely to have overt and subclinical hypothyroidism as well as subclinical hyperthyroidism and thyroid nodules, said Dr. Pandya, who is also director of the university's geriatric education center. The prevalence of overt hyperthyroidism and thyroid cancer is believed to be the same in young and old people. However, thyroid cancer in older adults tends to be a more aggressive disease than it is in younger people.

Signs and symptoms of hypothyroidism in older patients mimic certain processes of normal aging, including anorexia, cognitive decline, cold intolerance, constipation, dry skin, fatigue, hearing loss, hoarseness, paresthesia, slowed reflexes, and weakness.

“A high index of suspicion is important,” said Dr. Pandya. Symptoms of hyperthyroidism may be absent or subtle, or may be obscured by existing diseases. Cardiac complications such as atrial arrhythmias, heart failure, and angina are the most common indicators of the thyroid problem. A decrease in physical activity with fatigue, weakness, lethargy, agitation, confusion, and dementia are also common. Weight loss with anorexia may be present, and myopathy is predominant. Dr. Pandya said she had no relevant conflicts of interest to disclose.

'A high index of suspicion is important.' The symptoms may be absent or subtle, or obscured by existing diseases. DR. PANDYA

SALT LAKE CITY — It's hard to know whom among the elderly to screen for thyroid dysfunction because, when it comes to adults without thyroid-disease symptoms, current recommendations from various medical societies differ widely.

The American Thyroid Association recommends screening every 5 years for all women and men older than the age of 35 years. The American College of Physicians' guideline—although officially inactive because it's more than 5 years old—recommends screening only women who are older than 50 and who show incidental symptoms of thyroid disease. And the U.S. Preventive Services Task Force says there is insufficient evidence for or against screening anyone.

Nevertheless, Dr. Naushira Pandya said that the consensus among geriatricians is to screen men and women aged 65 years and older at least once, and thereafter if they develop symptoms of hypothyroidism or hyperthyroidism. The reason, she said, is that so many diseases and drugs common in elderly people can affect the thyroid.

Speaking at the annual symposium of the American Medical Directors Association, Dr. Pandya offered a list of conditions that warrant testing for thyroid dysfunction. These include previous thyroid disease or surgery; the presence of a goiter or nodule; type 1 diabetes; previous postpartum thyroid dysfunction; Down or Turner's syndrome; chronic kidney disease; previous irradiation of the head and neck; radical pharyngeal surgery; history of polycystic ovary syndrome; pituitary surgery or irradiation; and severe head injury.

The list of drugs that affect thyroid function is also lengthy. Lithium, iodine (including that in x-ray contrast media and kelp nutritional supplements), interleukin-2, and interferon-α may cause hypothyroidism, whereas iodine, interleukins, and interferons may cause hyperthyroidism, said Dr. Pandya of the department of internal medicine at Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla. In addition, glucocorticoids, iodine, propylthiouracil, β-blockers, and amiodarone may impair the conversion of T₄ to T₃, whereas dopamine, dobutamine, glucocorticoids, phenytoin, bromocriptine, and octreotide may suppress thyroid- stimulating hormone.

Carbamazepine, phenytoin, rifampin, and phenobarbital may increase clearance of T₄, whereas salsalate, salicylates, nonsteroidal anti-inflammatory drugs, furosemide, and heparin may reduce binding of T₄ to thyroid-binding globulin. Dr. Pandya also noted aluminum hydroxide, cholestyramine, ferrous sulfate, sucralfate, and cation exchange resins influence the absorption of thyroxine.

Compared with their younger counterparts, older people are more likely to have overt and subclinical hypothyroidism as well as subclinical hyperthyroidism and thyroid nodules, said Dr. Pandya, who is also director of the university's geriatric education center. The prevalence of overt hyperthyroidism and thyroid cancer is believed to be the same in young and old people. However, thyroid cancer in older adults tends to be a more aggressive disease than it is in younger people.

Signs and symptoms of hypothyroidism in older patients mimic certain processes of normal aging, including anorexia, cognitive decline, cold intolerance, constipation, dry skin, fatigue, hearing loss, hoarseness, paresthesia, slowed reflexes, and weakness.

“A high index of suspicion is important,” said Dr. Pandya. Symptoms of hyperthyroidism may be absent or subtle, or may be obscured by existing diseases. Cardiac complications such as atrial arrhythmias, heart failure, and angina are the most common indicators of the thyroid problem. A decrease in physical activity with fatigue, weakness, lethargy, agitation, confusion, and dementia are also common. Weight loss with anorexia may be present, and myopathy is predominant. Dr. Pandya said she had no relevant conflicts of interest to disclose.

'A high index of suspicion is important.' The symptoms may be absent or subtle, or obscured by existing diseases. DR. PANDYA

SALT LAKE CITY — It's hard to know whom among the elderly to screen for thyroid dysfunction because, when it comes to adults without thyroid-disease symptoms, current recommendations from various medical societies differ widely.

The American Thyroid Association recommends screening every 5 years for all women and men older than the age of 35 years. The American College of Physicians' guideline—although officially inactive because it's more than 5 years old—recommends screening only women who are older than 50 and who show incidental symptoms of thyroid disease. And the U.S. Preventive Services Task Force says there is insufficient evidence for or against screening anyone.

Nevertheless, Dr. Naushira Pandya said that the consensus among geriatricians is to screen men and women aged 65 years and older at least once, and thereafter if they develop symptoms of hypothyroidism or hyperthyroidism. The reason, she said, is that so many diseases and drugs common in elderly people can affect the thyroid.

Speaking at the annual symposium of the American Medical Directors Association, Dr. Pandya offered a list of conditions that warrant testing for thyroid dysfunction. These include previous thyroid disease or surgery; the presence of a goiter or nodule; type 1 diabetes; previous postpartum thyroid dysfunction; Down or Turner's syndrome; chronic kidney disease; previous irradiation of the head and neck; radical pharyngeal surgery; history of polycystic ovary syndrome; pituitary surgery or irradiation; and severe head injury.

The list of drugs that affect thyroid function is also lengthy. Lithium, iodine (including that in x-ray contrast media and kelp nutritional supplements), interleukin-2, and interferon-α may cause hypothyroidism, whereas iodine, interleukins, and interferons may cause hyperthyroidism, said Dr. Pandya of the department of internal medicine at Nova Southeastern University College of Osteopathic Medicine, Fort Lauderdale, Fla. In addition, glucocorticoids, iodine, propylthiouracil, β-blockers, and amiodarone may impair the conversion of T₄ to T₃, whereas dopamine, dobutamine, glucocorticoids, phenytoin, bromocriptine, and octreotide may suppress thyroid- stimulating hormone.

Carbamazepine, phenytoin, rifampin, and phenobarbital may increase clearance of T₄, whereas salsalate, salicylates, nonsteroidal anti-inflammatory drugs, furosemide, and heparin may reduce binding of T₄ to thyroid-binding globulin. Dr. Pandya also noted aluminum hydroxide, cholestyramine, ferrous sulfate, sucralfate, and cation exchange resins influence the absorption of thyroxine.

Compared with their younger counterparts, older people are more likely to have overt and subclinical hypothyroidism as well as subclinical hyperthyroidism and thyroid nodules, said Dr. Pandya, who is also director of the university's geriatric education center. The prevalence of overt hyperthyroidism and thyroid cancer is believed to be the same in young and old people. However, thyroid cancer in older adults tends to be a more aggressive disease than it is in younger people.

Signs and symptoms of hypothyroidism in older patients mimic certain processes of normal aging, including anorexia, cognitive decline, cold intolerance, constipation, dry skin, fatigue, hearing loss, hoarseness, paresthesia, slowed reflexes, and weakness.

“A high index of suspicion is important,” said Dr. Pandya. Symptoms of hyperthyroidism may be absent or subtle, or may be obscured by existing diseases. Cardiac complications such as atrial arrhythmias, heart failure, and angina are the most common indicators of the thyroid problem. A decrease in physical activity with fatigue, weakness, lethargy, agitation, confusion, and dementia are also common. Weight loss with anorexia may be present, and myopathy is predominant. Dr. Pandya said she had no relevant conflicts of interest to disclose.

'A high index of suspicion is important.' The symptoms may be absent or subtle, or obscured by existing diseases. DR. PANDYA

LA JOLLA, CALIF. — Dr. Lynne M. Bird believes the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But there are some families that have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The way to follow children with NF1 is to see them regularly for a complete physical examination. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said. “If there is a symptom that hangs on, that's nagging and doesn't go away in a reasonable amount of time, they need to come in.”

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

Many parents ask Dr. Bird if an MRI of the brain and optic nerves is needed in children who present with multiple café au lait macules. “There is no evidence that detecting optic gliomas before they're symptomatic translates into better outcome. So you could argue that doing an MRI, which requires anesthesia, is not worth the money or the risk. I am not in the habit of getting routine MRIs. I oblige for the families who really want them.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird had no relevant disclosures.

'Families should be told that symptoms which are not self-limited need to be brought to your attention.' DR. BIRD

Cafe au lait macules can appear at birth or in the first months of life.

Axillary freckling is usually evident in school-age children.

The Riccardi sign, a tuft of hair near the spine, is often present at birth and may precede other signs of NF1. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones

LA JOLLA, CALIF. — Dr. Lynne M. Bird believes the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But there are some families that have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The way to follow children with NF1 is to see them regularly for a complete physical examination. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said. “If there is a symptom that hangs on, that's nagging and doesn't go away in a reasonable amount of time, they need to come in.”

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

Many parents ask Dr. Bird if an MRI of the brain and optic nerves is needed in children who present with multiple café au lait macules. “There is no evidence that detecting optic gliomas before they're symptomatic translates into better outcome. So you could argue that doing an MRI, which requires anesthesia, is not worth the money or the risk. I am not in the habit of getting routine MRIs. I oblige for the families who really want them.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird had no relevant disclosures.

'Families should be told that symptoms which are not self-limited need to be brought to your attention.' DR. BIRD

Cafe au lait macules can appear at birth or in the first months of life.

Axillary freckling is usually evident in school-age children.

The Riccardi sign, a tuft of hair near the spine, is often present at birth and may precede other signs of NF1. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones

LA JOLLA, CALIF. — Dr. Lynne M. Bird believes the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But there are some families that have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The way to follow children with NF1 is to see them regularly for a complete physical examination. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said. “If there is a symptom that hangs on, that's nagging and doesn't go away in a reasonable amount of time, they need to come in.”

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

Many parents ask Dr. Bird if an MRI of the brain and optic nerves is needed in children who present with multiple café au lait macules. “There is no evidence that detecting optic gliomas before they're symptomatic translates into better outcome. So you could argue that doing an MRI, which requires anesthesia, is not worth the money or the risk. I am not in the habit of getting routine MRIs. I oblige for the families who really want them.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird had no relevant disclosures.

'Families should be told that symptoms which are not self-limited need to be brought to your attention.' DR. BIRD

Cafe au lait macules can appear at birth or in the first months of life.

Axillary freckling is usually evident in school-age children.

The Riccardi sign, a tuft of hair near the spine, is often present at birth and may precede other signs of NF1. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones

LA JOLLA, CALIF. — The way Dr. Lynne M. Bird sees it, the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But some families have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this, you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The best way to follow children with NF1 is to see them regularly for a complete physical examination and review of systems. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird said she had no relevant disclosures to make.

Cafe au lait macules, shown here, are usually the first sign of NF1.

Axillary freckling is often evident later in the school-age child.

The Riccardi sign, a tuft of hair near the spine, may be present at birth and may even precede macules. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones

LA JOLLA, CALIF. — The way Dr. Lynne M. Bird sees it, the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But some families have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this, you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The best way to follow children with NF1 is to see them regularly for a complete physical examination and review of systems. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird said she had no relevant disclosures to make.

Cafe au lait macules, shown here, are usually the first sign of NF1.

Axillary freckling is often evident later in the school-age child.

The Riccardi sign, a tuft of hair near the spine, may be present at birth and may even precede macules. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones

LA JOLLA, CALIF. — The way Dr. Lynne M. Bird sees it, the $1,500 gene sequencing test for neurofibromatosis type 1 in children is rarely necessary because it usually does not change clinical management.

She favors a watchful waiting approach in children who present with the hallmark symptom of at least six café au lait macules that are at least 5 mm in size, “and [I] wait for the second criterion to appear,” she said at a meeting sponsored by Rady Children's Hospital and the American Academy of Pediatrics. “I follow these children as if I already knew they had NF1, monitoring them for potential complications without doing gene testing.”

The prevalence of neurofibromatosis type 1 (NF1) is 1:3,000, making it the most common neurocutaneous disorder in children. Diagnosis is made if the child meets two of seven criteria: café au lait macules; axillary or inguinal freckling; two or more neurofibromas or one plexiform neurofibroma; optic nerve glioma; two or more Lisch nodules of the iris; a distinctive osseous lesion such as pseudarthrosis or sphenoid wing dysplasia; or a family history of the disease.

About of half of cases with no family history meet criteria for the disorder by 1 year of age; 97% meet the criteria by 8 years of age.

NF1 is an autosomal, dominantly inherited disorder due to mutations in a gene on chromosome 17, which encodes the protein neurofibromin, a tumor suppressor. “Finding a mutation of the gene would also allow you to make this diagnosis,” said Dr. Bird of the division of genetics and dysmorphology at Rady Children's Hospital, San Diego. “If you have a parent with NF1 and you can determine their mutation through genetic testing, then you can offer them prenatal diagnosis. In my experience, most parents aren't concerned enough about passing NF1 on to their children that they would consider interrupting a pregnancy. But some families have experienced major complications associated with NF1, and they are very interested in not passing the gene on to their children.”

A study of nearly 1,900 patients with NF1 found that the features of the disease typically appear in a characteristic order, beginning with café au lait macules (Pediatrics 2000;105:608–14).

Sometimes macules are present at birth “but others will appear in the first few months of life and certainly by the first couple of years of age,” Dr. Bird said. “Typically the next feature is axillary freckling, which is usually evident in the school-age child. Lisch nodules will appear gradually after that, followed by neurofibromas as a sign that the child is entering puberty.”

Another clue is the presence of the Riccardi sign, a tuft of hair along the back near the spine. “This sign will often be present at birth and may be there before any of the café au lait macules show up, so you will look really smart if you make a tentative diagnosis upon seeing this,” Dr. Bird said.

Optic glioma almost always appears by 3 years of age “and certainly by 6 years of age,” she said. “In addition, there is frequent thickening of the optic nerves, which is asymptomatic and doesn't cause disease.”

A rare feature of NF1 is juvenile xanthogranuloma, which occurs in 1%–2% of cases. This skin lesion usually resolves spontaneously but is associated with an increased incidence of juvenile myeloid leukemia (JML). “When you see this, you want to at least do a complete blood count and be thinking about JML, and maybe contact your local oncologist to see if they have further recommendations for monitoring,” she advised.

In most cases, the diagnosis of NF1 is made on clinical exam, including a careful evaluation of both parents. “This condition is present in 1 in 3,000 in the general population, but I don't see anywhere near the equivalent number of kids in my clinic,” Dr. Bird said. “That tells me there is a lot of undiagnosed NF1 out there. Most parents [with NF1] are healthy; they just have spots and a few lumps on their skin.”

The best way to follow children with NF1 is to see them regularly for a complete physical examination and review of systems. There is no way to screen for every single complication of NF1 except by talking to families, said Dr. Bird, who is also with the department of pediatrics at the University of California, San Diego. “Families should be told that symptoms which are not self-limited need to be brought to your attention,” she said

Basic follow-up tests should include checking blood pressure and monitoring for scoliosis as well as an ophthalmology evaluation and an assessment of developmental skills. “Learning disabilities are common,” she said. “Expressive language delay is the area of development most commonly affected.”

NF1 patients with neurofibromas have a 10% lifetime risk of developing a malignant peripheral nerve sheath tumor within one of the lesions. Signs of malignant degeneration include persistent pain, a change in texture, a rapid increase in size, or development of a neurologic deficit associated with the neurofibroma.

Dr. Bird said she had no relevant disclosures to make.

Cafe au lait macules, shown here, are usually the first sign of NF1.

Axillary freckling is often evident later in the school-age child.

The Riccardi sign, a tuft of hair near the spine, may be present at birth and may even precede macules. Photos courtesy Dr. Lynne M. Bird and Dr. Marilyn C. Jones