A clinical-translational review of sleep problems in neurodevelopmental disabilities.

Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families.

Sleep Disorders in Childhood.

OBJECTIVE: This article provides a comprehensive review of pediatric sleep disorders including the clinical features, diagnosis, and treatment of sleep-disordered breathing, insomnia, parasomnias, restless sleep disorder, restless legs syndrome, narcolepsy in childhood, and Kleine-Levin syndrome. LATEST DEVELOPMENTS: Our understanding of pediatric sleep pathophysiology continues to evolve, and diagnostic and treatment modalities have expanded. A low-sodium oxybate formulation was approved in July 2020 in the United States to treat cataplexy and excessive daytime sleepiness in patients 7 years old and older with narcolepsy. A validated pediatric hypersomnolence survey for pediatric narcolepsy and idiopathic hypersomnia with high sensitivity, specificity, and interrater reliability is now available. ESSENTIAL POINTS: The clinical presentation, diagnostics, and treatment of children with sleep disorders differ from those of adults. Untreated sleep disorders in childhood can lead to adverse physical and psychological consequences in adults. Correctly diagnosing and treating sleep disorders in youth can prevent a significant burden of disease in adulthood.

Diagnosis and management of sleep disorders in Prader-Willi syndrome.

Clinical experience and a growing body of evidence suggest that sleep disturbances are common in people with Prader-Willi syndrome (PWS). PWS is a rare neuroendocrine disorder characterized by early hypotonia and feeding difficulties; developmental delays; endocrinopathies; and behavioral concerns, especially rigidity, anxiety, and behavioral outbursts. PWS is also characterized by decreased resting energy expenditure and transition to hyperphagia and obesity. We propose that, for many people with PWS, clinical diagnosis and management of sleep disorders is an unmet need. We present current information to suggest disordered sleep is a significant burden for individuals with PWS and often overlooked. While central and obstructive sleep apnea are more widely recognized in PWS, other sleep disorders have increasingly gained recognition, including hypersomnia, narcolepsy-like phenotypes, and insomnia. Sleep disorders can impact behavior, cognition, and quality of life and health for individuals with PWS. Our goal is to bring sleep disorders to the forefront of therapeutic intervention for patients with PWS. This paper presents a review of the literature and recommendations for clinical practice based on published research and our clinical experience as sleep specialists, geneticists, psychiatrists, pediatricians, otolaryngologists, and pulmonologists with extensive experience with this patient population. We recommend that management of sleep be considered an integral part of successful medical management of PWS. Further research concerning sleep problems in PWS is urgently needed to develop best practices and work toward a consensus statement for medical management to meet the needs of people with PWS. CITATION: Duis J, Pullen LC, Picone M, et al. Diagnosis and management of sleep disorders in Prader-Willi syndrome. J Clin Sleep Med. 2022;18(6):1687-1696.

Neurodevelopmental Disorders Commonly Presenting with Sleep Disturbances.

There are multiple disorders of neurodevelopment that present with co-occurring sleep disturbances. Many of these neurodevelopmental disorders (NDD) include sleep disturbances in their diagnostic criteria. Neurobiological, genetic, and environmental factors overlap to cause different sleep disorders in individuals with NDD. Caregivers often present reporting either insomnia or hypersomnia, and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. It is crucial that clinicians understand the different presentations of sleep disturbances in individuals with NDD.

A multidisciplinary approach to the clinical management of Prader-Willi syndrome.

BACKGROUND: Prader-Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000-1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Multidisciplinary clinics support comprehensive, patient-centered care for individuals with complex genetic disorders and their families. Value comes from improved communication and focuses on quality family-centered care. METHODS: Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Review of the literature was used to provide support. RESULTS: Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. We have also defined the Center of Excellence beyond the multidisciplinary clinic. CONCLUSION: Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change the natural history of disease; improving daily patient struggles, access to care, and caregiver burden; and decreasing healthcare load. Based on experience to date with a PWS multidisciplinary clinic, we propose a design for this approach and emphasize the development of "Centers of Excellence." We highlight the dearth of evidence for management approaches creating huge gaps in care practices as a means to illustrate the importance of the collaborative environment and translational approaches.

Correlates to Problem Behaviors in Pediatric Narcolepsy: A Pilot Study.

STUDY OBJECTIVE: Excessive daytime sleepiness, the hallmark of narcolepsy, predisposes patients to serious performance decrements in multiple areas of function. Psychosocial dysfunction has been demonstrated in adults and children with narcolepsy. Several factors could influence psychosocial functioning in children. The objective of this study was to examine neurobehavioral problems in children with narcolepsy and to define associations with these problem behaviors. METHODS: A cross-sectional study was performed where the Child Behavior Checklist (CBCL) was completed by guardians of children (age 18 years or younger) in whom narcolepsy with or without cataplexy was diagnosed (based on the International Classification of Sleep Disorders, Second Edition) between July 2008 and October 2014. Spearman correlations (continuous variables) and Wilcoxon rank-sum tests (categorical variables) were performed for the CBCL findings and narcolepsy factors previously shown to influence psychosocial functioning. RESULTS: The participants' current age correlated significantly with multiple CBCL scales. Caregivers of younger participants reported higher total psychosocial problems and externalizing problems. In addition, caregivers of younger participants reported higher scores on indices measuring inattention, withdrawal, thought problems, aggression, and rule-breaking behaviors. Values of P < .001 were found for total psychosocial problems, externalizing behaviors, and thought problems (negative correlations of 0.66, 0.65, and 0.64, respectively). CONCLUSIONS: Patients with pediatric narcolepsy have high rates of attention and emotional/behavior problems. These problems strongly correlated with age. Younger children expressed higher emotional, behavioral, and attention problems. Sleep physicians need to be aware of and assess the mental and behavioral health of their pediatric patients with narcolepsy.