Sleep problems in children with fetal alcohol spectrum disorders (FASD) are reportedly common but not well characterized. Objectives were to: (1) assess sleep concerns in children with FASD using a caregiver-report survey, the Children's Sleep Habits Questionnaire (CSHQ); (2) compare CSHQ results with those of previously reported community sample; and (3) describe pilot polysomnography findings in children with FASD. Children with FASD were recruited from a behavioral intervention study, and participating caregivers completed the CSHQ. CSHQ results were compared with the original data from a previously published community sample of similar age. Participants with FASD and elevated CSHQ scores were offered overnight polysomnography. Thirty-three children with FASD (4.1-12.1 years) were enrolled; 85% of children with FASD scored above the clinical cutoff Total Score of 41, reflecting marked sleep disturbance. Elevated subdomain scores occurred primarily in areas concerning for pediatric insomnia. Those with comorbid ADHD had elevated CSHQ on additional subdomains with no difference in Total Scores. Compared with the community sample, children with FASD had higher Total Scores on the CSHQ (52 vs. 39, p < 0.001). Polysomnography, completed in 5 subjects, revealed mild sleep disordered breathing and fragmented sleep with elevated non-respiratory arousal indices. Clinically significant sleep problems are present in children with FASD on both subjective and objective measures. Further investigation is needed to better describe these sleep disturbances and their impact on overall health and daytime neurobehavioral problems in this clinical population.

Obstructive sleep apnea (OSA) is a form of sleep-disordered breathing that affects up to 9.5% of the pediatric population. Untreated OSA is associated with several complications, including neurobehavioral sequelae, growth and developmental delay, cardiovascular dysfunction, and insulin resistance. Attention-deficit/hyperactivity disorder (ADHD) is among the neurobehavioral sequelae associated with OSA. This review aims to summarize the research on the relationship between OSA and ADHD and investigate the impacts of OSA treatment on ADHD symptoms. A literature search was conducted on electronic databases with the key terms: “attention deficit hyperactivity disorder” or “ADHD”, “obstructive sleep apnea” or “OSA”, “sleep disordered breathing”, and “pediatric” or “children”. Review of relevant studies showed adenotonsillectomy to be effective in the short-term treatment of ADHD symptoms. The success of other treatment options, including continuous positive airway pressure (CPAP), in treating ADHD symptoms in pediatric OSA patients has not been adequately evaluated. Further studies are needed to evaluate the long-term benefits of surgical intervention, patient factors that may influence treatment success, and the potential benefits of other OSA treatment methods for pediatric ADHD patients.

Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the “molar tooth sign” which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published. Objectives: The primary objectives were (1) compare a large group of children with JS and their unaffected siblings for caregiver-reported sleep difficulties. Secondary objectives were (1) present new polysomnography (PSG) data on our JS cohort; (2) review sleep disordered breathing (SDB) in other rare congenital hindbrain anatomic abnormalities. Design: We conducted a cross-sectional study on a cohort of 109 families affected by JS. Methods: Pediatric Sleep Questionnaire (PSQ) and the Children’s Sleep Habits Questionnaire (CSHQ) along with general medical health information focused on respiratory and sleep problems were mailed to all patients and families. Caregivers were asked to complete the survey for both children with JS and unaffected siblings, if any. Baseline diagnostic PSG was retrospectively reviewed for those with available studies, and the sleep parameters were compared to a referent cohort. Results: Study participants with JS were older than their unaffected siblings ( p = 0.02). Genetic mutations were available for 41 out of 118 individuals, with the most common mutation being MKS3 (31.4%). Patients with JS had higher scores in the PSQ compared to their unaffected siblings ( p < 0.001). PSG data showed severe SDB with apnea-hypopnea index (AHI) of 23 ± 15 events/h in patients with JS. Events were primarily obstructive (obstructive AHI 18 ± 15 events/h vs central AHI 4 ± 4 events/h). Abnormal sleep architecture with increased arousal indices, decreased efficiency, and more time awake and in light sleep or wakefulness when compared to the referent data. Conclusion: SDB is common and severe in patients with JS, and the significantly greater obstructive component reported in this cohort makes it necessary to perform complete PSG studies to address or prevent clinical manifestations in this at-risk population. PSQ could represent a viable method to screen for SDB in JS.