Coleen A. Boyle

Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008

OBJECTIVE: To fill gaps in crucial data needed for health and educational planning, we determined the prevalence of developmental disabilities in US children and in selected populations for a recent 12-year period. PARTICIPANTS AND METHODS: We used data on children aged 3 to 17 years from the 1997–2008 National Health Interview Surveys, which are ongoing nationally representative samples of US households. Parent-reported diagnoses of the following were included: attention deficit hyperactivity disorder; intellectual disability; cerebral palsy; autism; seizures; stuttering or stammering; moderate to profound hearing loss; blindness; learning disorders; and/or other developmental delays. RESULTS: Boys had a higher prevalence overall and for a number of select disabilities compared with girls. Hispanic children had the lowest prevalence for a number of disabilities compared with non-Hispanic white and black children. Low income and public health insurance were associated with a higher prevalence of many disabilities. Prevalence of any developmental disability increased from 12.84% to 15.04% over 12 years. Autism, attention deficit hyperactivity disorder, and other developmental delays increased, whereas hearing loss showed a significant decline. These trends were found in all of the sociodemographic subgroups, except for autism in non-Hispanic black children. CONCLUSIONS: Developmental disabilities are common and were reported in ∼1 in 6 children in the United States in 2006–2008. The number of children with select developmental disabilities (autism, attention deficit hyperactivity disorder, and other developmental delays) has increased, requiring more health and education services. Additional study of the influence of risk-factor shifts, changes in acceptance, and benefits of early services is needed.

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related to the clinical validity of genetic testing for GJB2. This review focuses primarily on three alleles: 167ΔT, 35ΔG, and 235ΔC. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.

The relationship between autism and parenting stress.

OBJECTIVE. We assessed associations between parenting a child with autism and stress indicators. METHODS. In the 2003 National Survey of Children’s Health, parents or other knowledgeable adult respondents for children aged 4 to 17 years reported their recent feelings about their life sacrifices to care for their child, difficulty caring for their child, frustration with their child’s actions, and anger toward their child. Responses were compiled in the Aggravation in Parenting Scale. Parents of children reported to have autism (N = 459) were compared with parents of: (1) children with special health care needs including emotional, developmental, or behavioral problems other than autism that necessitated treatment (children with other developmental problems [N = 4545]); (2) children with special health care needs without developmental problems (N = 11475); and (3) children without special health care needs (N = 61826). Weighted estimates are presented. RESULTS. Parents of children with autism were more likely to score in the high aggravation range (55%) than parents of children with developmental problems other than autism (44%), parents of children with special health care needs without developmental problems (12%), and parents of children without special health care needs (11%). However, within the autism group, the proportion of parents with high aggravation was 66% for those whose child recently needed special services and 28% for those whose child did not. The parents of children with autism and recent special service needs were substantially more likely to have high aggravation than parents of children with recent special service needs in each of the 3 comparison groups. Conversely, parents of children with autism but without recent special service needs were not more likely to have high aggravation than parents of children with other developmental problems. CONCLUSIONS. Parenting a child with autism with recent special service needs seems to be associated with unique stresses.

Alcohol consumption by pregnant women in the united states during 1988–1995

Objective To examine trends in alcohol use among pregnant women in the United States and to characterize pregnant women who use alcohol, with an emphasis on frequent use (at least five drinks per occasion or at least seven drinks per week) Methods We used the Behavioral Risk Factor Surveillance System data from 1988 through 1995 to obtain the percentage of pregnant women who used alcohol. We used multiple logistic models to identify subgroups of pregnant women who are at increased risk for alcohol use. Results Overall, 14.6% (869 of 5983) of pregnant women consumed alcohol and 2.1% (133 of 5983) consumed alcohol frequently. Among pregnant women, alcohol use decreased from 22.5% (95% confidence interval [CI] 20.8, 23.9) in 1988 to 9.5% (95% CI 7.9, 11.8) in 1992 and then increased to 15.3% (95% CI 13.1, 17.2) by 1995. Among pregnant women, frequent alcohol use decreased from 3.9% (95% CI 2.4, 5.2) in 1988 to 0.9% (95% CI 0.4, 1.6) in 1991 and then increased to 3.5% (95% CI 2.0, 5.1) by 1995. Pregnant women who were at high risk for alcohol use were college educated, unmarried, employed, or students, had annual household incomes of more than

Birth Defects Among Fetuses and Infants of US Women With Evidence of Possible Zika Virus Infection During Pregnancy

50,000, or were smokers. Pregnant women who were at high risk for frequent alcohol use were more likely to be unmarried, or smokers. Conclusion The increasing prevalence of alcohol use among pregnant women calls for increased ascertainment of alcohol use among preconceptional and pregnant women. Brief interventions by clinicians, increased referral to alcohol treatment programs, and increased use of contraception by women of reproductive age who are problem drinkers should be considered as means of preventing alcohol-exposed pregnancies.

Health Care Use and Health and Functional Impact of Developmental Disabilities Among US Children, 1997-2005

Importance Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. Objective To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Design, Setting, and Participants Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments. Exposures Laboratory evidence of possible recent Zika virus infection in a maternal, placental, fetal, or infant sample. Main Outcomes and Measures Birth defects potentially Zika associated: brain abnormalities with or without microcephaly, neural tube defects and other early brain malformations, eye abnormalities, and other central nervous system consequences. Results Among 442 completed pregnancies in women (median age, 28 years; range, 15-50 years) with laboratory evidence of possible recent Zika virus infection, birth defects potentially related to Zika virus were identified in 26 (6%; 95% CI, 4%-8%) fetuses or infants. There were 21 infants with birth defects among 395 live births and 5 fetuses with birth defects among 47 pregnancy losses. Birth defects were reported for 16 of 271 (6%; 95% CI, 4%-9%) pregnant asymptomatic women and 10 of 167 (6%; 95% CI, 3%-11%) symptomatic pregnant women. Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly, and cerebellar abnormalities. Infants with microcephaly (18/442) represent 4% of completed pregnancies. Birth defects were reported in 9 of 85 (11%; 95% CI, 6%-19%) completed pregnancies with maternal symptoms or exposure exclusively in the first trimester (or first trimester and periconceptional period), with no reports of birth defects among fetuses or infants with prenatal exposure to Zika virus infection only in the second or third trimesters. Conclusions and Relevance Among pregnant women in the United States with completed pregnancies and laboratory evidence of possible recent Zika infection, 6% of fetuses or infants had evidence of Zika-associated birth defects, primarily brain abnormalities and microcephaly, whereas among women with first-trimester Zika infection, 11% of fetuses or infants had evidence of Zika-associated birth defects. These findings support the importance of screening pregnant women for Zika virus exposure.

Concurrent Medical Conditions and Health Care Use and Needs among Children with Learning and Behavioral Developmental Disabilities, National Health Interview Survey, 2006-2010.

OBJECTIVE To present nationally representative estimates of health-related limitations, needs, and service use among US children with and without developmental disabilities (DDs). DESIGN Retrospective analysis of data from a sample of US households from the 1997-2005 National Health Interview Surveys. PARTICIPANTS Children aged 3 to 17 years (n = 95 132). MAIN OUTCOME MEASURES Parents or other knowledgeable adults reported on their childrens DDs, health needs, and use of health and education services. Developmental disabilities included attention-deficit/hyperactivity disorder, autism, blindness, cerebral palsy, deaf/a lot of trouble hearing, learning disability, mental retardation, seizures, stuttering/stammering, and other developmental delay. RESULTS Among children with 1 or more DDs, prevalence estimates for limitations in movement (6.1%), needed help with personal care (3.2%), needed special equipment (3.5%), received home health care (1.4%), and regularly took prescription medication(s) (37.5%) were 4 to 32 times higher than for children without DDs. Children with DDs were 2 to 8 times as likely to have had more than 9 health care visits (14.9%), received special education (38.8%), had a surgical or medical procedure (7.5%), and recently visited a medical specialist (23.9%), mental health professional (26.6%), therapist/allied health professional (19.6%), and/or emergency department (10.3%). Effects were generally stable during the study interval and independent of age, race, sex, and family income. Cerebral palsy, autism, mental retardation, blindness, and deafness/a lot of trouble hearing were associated with the highest levels of health and functional impact indicators. CONCLUSIONS Developmental disabilities profoundly affect childrens health and functioning. These data can inform evidence-based targeted prevention strategies for minimizing functional limitations and lifetime disability. Additional study of unmet needs and access to care is needed.

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

Studies document various associated health risks for children with developmental disabilities (DDs). Further study is needed by disability type. Using the 2006-2010 National Health Interview Surveys, we assessed the prevalence of numerous medical conditions (e.g. asthma, frequent diarrhea/colitis, seizures), health care use measures (e.g. seeing a medical specialist and >9 office visits in past year), health impact measures (e.g. needing help with personal care), and selected indicators of unmet health needs (e.g. unable to afford needed prescription medications) among a nationally representative sample of children ages 3-17 years, with and without DDs. Children in four mutually exclusive developmental disability groups: autism (N = 375), intellectual disability (ID) without autism (N = 238); attention-deficit/hyperactivity disorder (ADHD) without autism or ID (N = 2901); and learning disability (LD) or other developmental delay without ADHD, autism, or ID (N = 1955); were compared to children without DDs (N = 35,775) on each condition or health care measure of interest. Adjusted odds ratios (aORs) were calculated from weighted logistic regression models that accounted for the complex sample design. Prevalence estimates for most medical conditions examined were moderately to markedly higher for children in all four DD groups than children without DDs. Most differences were statistically significant after adjustment for child sex, age, race/ethnicity, and maternal education. Children in all DD groups also had significantly higher estimates for health care use, impact, and unmet needs measures than children without DDs. This study provides empirical evidence that children with DDs require increased pediatric and specialist services, both for their core functional deficits and concurrent medical conditions.

From Public Health Emergency to Public Health Service: The Implications of Evolving Criteria for Newborn Screening Panels

We conducted a large population-based survey of fragile X (FRAXA) syndrome in ethnically diverse metropolitan Atlanta. The eligible study population consisted of public school children, aged 7-10 years, in special education-needs (SEN) classes. The purpose of the study was to estimate the prevalence among whites and, for the first time, African Americans, among a non-clinically referred population. At present, 5 males with FRAXA syndrome (4 whites and 1 African American), among 1,979 tested males, and no females, among 872 tested females, were identified. All males with FRAXA syndrome were mentally retarded and had been diagnosed previously. The prevalence for FRAXA syndrome was estimated to be 1/3,460 (confidence interval [CI] 1/7,143-1/1,742) for the general white male population and 1/4, 048 (CI 1/16,260-1/1,244) for the general African American male population. We also compared the frequency of intermediate and premutation FRAXA alleles (41-199 repeats) and fragile XE syndrome alleles (31-199 repeats) in the SEN population with that in a control population, to determine if there was a possible phenotype consequence of such high-repeat alleles, as has been reported previously. No difference was observed between our case and control populations, and no difference was observed between populations when the probands were grouped by a rough estimate of IQ based on class placement. These results suggest that there is no phenotype consequence of larger alleles that would cause carriers to be placed in an SEN class.

Bacterial Meningitis Among Children With Cochlear Implants Beyond 24 Months After Implantation

PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright