The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.

This study reports on current child sleep difficulties reported by parents of children with Fragile X syndrome (FXS). We address prevalence and type of sleep problems (e.g., difficulty falling asleep, frequent awakenings); type and effectiveness of medical and behavioral treatments (e.g., medication, surgery, environmental changes); and explore specific child and family characteristics (e.g., child age, child gender, co-occurring conditions) as possible predictors of child sleep difficulties. This study is part of a larger survey addressing needs of families with children with FXS. This article focuses on the families who responded to the survey sleep questions, had one or more children with the full mutation FXS, and who reside in the United States. The mean age for male and female children in this group was 15 years and 16 years respectively (N = 1,295). Parents reported that 32% of the children with FXS currently experience sleep difficulties; 84% of those children are reported to have ≥ 2 current sleep problems. Problems falling asleep and frequent night awakenings were the most frequently reported difficulties; 47% of males and 40% of females received ≥1 medication to help with sleep. Children with more problematic health or behavioral characteristics had a higher likelihood of having current sleep problems. Our survey provides the most representative sample to date of sleep problems in children with FXS or any other neurodevelopmental disability. This large scale survey establishes a foundation for the prevalence of sleep disorders in children with FXS.

The incidence of perinatal opioid use and neonatal withdrawal continues to rise rapidly in the face of the growing opioid addiction epidemic in the United States, with rural areas more severely affected. Despite decades of research and development of practice guidelines, maternal and neonatal outcomes have not improved substantially. This focused ethnography sought to understand the experience of accessing care necessary for substance use disorder recovery, pregnancy, and parenting. Personal accounts of 13 rural women, supplemented by participant observation and media artifacts, uncovered three domains with underlying themes: challenges of getting treatment and care (service availability, distance/geographic location, transportation, provider collaboration/coordination, physical and emotional safety), opportunities to bond (proximity, information), and importance of relationships (respect, empathy, familiarity, inclusion, interactions with care providers). Findings highlight the need for providers and policy makers to reduce barriers to treatment and care related to logistics, stigma, judgment, and lack of understanding of perinatal addiction.

The purpose of this study was to determine if independent raters would arrive at similar decisions about which codes from the Activities and Participation component of the International Classification of Functioning, Disability, and Health (ICF) to assign to children with disabilities based on the results of standard paediatric functional assessment measures. Children (N = 60), 9 months to 17.75 years old, with a range of disabilities were assessed using either the Vineland Adaptive Behavior Scales (n = 20), the Pediatric Evaluation of Disability Inventory (PEDI) (n = 20), or the School Function Assessment (SFA) (n = 20). Two raters independently determined which of 40 codes from the Activities and Participation component of the ICF applied to each child based on items and standard scores from the assessment measure. The Cohen's kappa statistic was used as the measure of inter-rater reliability. The kappa statistic was >/= 0.70, the criterion for good agreement in this study, for 23/40 codes using the Vineland, 17/40 codes using the PEDI, and 17/40 codes using the SFA. The mean kappa statistic reached >/= 0.70 for the Self care domain, using all three tools. The mean kappa statistic also reached >/= 0.70 for Learning and Applying Knowledge and Mobility using the Vineland. Independent raters reached high rates of agreement when assessment test items were structured developmentally and corresponded to a single ICF code. For domains other than Self care, alternative assessment strategies may be necessary to improve assigning ICF codes to children with disabilities.