Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

OBJECTIVE: To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. METHODS: Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. RESULTS: We expand our clinical characterization of HNRNPH2-related disorders to include 33 individuals, aged 2-38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition. CONCLUSIONS: The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.

Household Food Insecurity and Mental Health Problems Among Adolescents: What Do Parents Report?

OBJECTIVE: To investigate whether adolescents living in households with food insecurity have poorer parent-reported mental health (MH) than peers. METHODS: We analyzed cross-sectional data from ∼8600 adolescents who participated in the 2007 (8th grade) wave of the Early Childhood Longitudinal Study-Kindergarten. Household food insecurity (HFI) was assessed by parental report on the 18-item US Household Food Security Scale. Total Difficulties score >13 on the parent-reported Strengths and Difficulties Questionnaire (SDQ) indicated problems with adolescent MH. SDQ subscale scores (Emotional, Conduct, Hyperactivity, Peer Problems) were also calculated. Associations between HFI and MH were explored in bivariate and multivariable analyses. Interactions of HFI and gender and HFI and receipt of free/reduced-price school lunch were analyzed with regard to problems with MH. RESULTS: A total of 10.2% of adolescents lived with HFI; 11.2% had SDQ >13. Adolescents with HFI had higher rates of overall MH problems (28.7% vs 9.2%), emotional problems (21.6% vs 6.6%), conduct problems (26.5% vs 11.6%), hyperactivity (22.4% vs 11.3%), and peer problems (19.8% vs 8.6%) (all P < .01). After adjustment for confounders, the association between HFI and overall MH problems (odds ratio 2.3; 95% confidence interval 1.6-3.3) remained. Interactions of HFI and gender and HFI and free/reduced-price school lunch were not significant. CONCLUSIONS: HFI was associated with increased risk of parent-reported MH problems among both male and female adolescents. Free/reduced-price school lunch did not significantly alter this relationship. Effective interventions to promote MH and reduce HFI among adolescents are necessary.

Adult household smoking is associated with increased child emotional and behavioral problems.

CONTEXT: Although maternal smoking has been associated with child emotional and behavioral problems, to our knowledge, no study has evaluated the association between overall household smoking and such problems. OBJECTIVES: To investigate whether children who live with smokers are more likely than children who do not live with smokers to have emotional or behavioral problems and to explore this association in households with nonsmoking mothers. DESIGN, SETTING, AND PARTICIPANTS: Nationally representative data from the 2000 to 2004 medical expenditure panel surveys, involving 30,668 children aged 5 to 17 years, were used. Associations between child emotional or behavioral problems and household smoking, and child, maternal, and family characteristics were examined. SUDAAN software was used to adjust for complex sampling design. MAIN OUTCOME MEASURES: Overall score on the Columbia Impairment Scale, a 13-item parent-report measure of child emotional or behavioral functioning (range, 0-52, >or=16 indicates a child with such problems). RESULTS: Children in smoking versus nonsmoking households were significantly more likely to have behavioral problems (17.39% vs 9.29%, p < .001). After adjusting for all covariates, male sex, older age of child, younger age of mother, unmarried mother, maternal depression, and below average maternal physical and mental health, each were independently associated with increased likelihood of emotional and behavioral problems, as was the presence of one or more adult smokers in the household (adjusted odds ratio 1.42; 95% confidence interval: 1.26-1.60). The odds of Columbia Impairment Scale score >or=16 increased with increasing number of smokers in the household, even among children whose mothers did not smoke. CONCLUSION: Children living with smokers are at increased risk for emotional or behavioral problems, and rates of such problems increase with increasing numbers of smokers in the household, even in the absence of maternal smoking.