Focus (Am Psychiatr Publ)
April 2024
Autism spectrum disorder is associated with a high rate of sleep problems, affecting over 80% of autistic individuals. Sleep problems have pervasive negative effects on health, behavior, mood, and cognition but are underrecognized in autistic children. Problems initiating and maintaining sleep-hallmarks of insomnia-are common.
View Article and Find Full Text PDFUnlabelled: This is the first case report of sleep-disordered breathing in patients with pontine tegmental cap dysplasia, a very rare neurological disorder characterized by an anatomic malformation in the pons. Patients present with hypotonia, cognitive dysfunction, and cranial nerve palsies (eg, hearing loss, trigeminal anesthesia, and swallow dysfunction). Extensive studies have demonstrated the relevance of different pontine neuronal nuclei in breathing regulation, which are structurally abnormal in pontine tegmental cap dysplasia.
View Article and Find Full Text PDFPurpose: With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic.
View Article and Find Full Text PDFBackground: Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing.
View Article and Find Full Text PDFCongenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired-like homeobox gene PHOX2B, which alters control of breathing and autonomic nervous system regulation, necessitating artificial ventilation as life-support. A broad range of neurocognitive performance has been reported in CCHS, including an array of cognitive deficits. We administered the NIH Toolbox® Cognition Battery (NTCB), a novel technology comprised of seven tasks presented via an interactive computer tablet application, to a CCHS cohort and studied its convergent and divergent validity relative to traditional clinical neurocognitive measures.
View Article and Find Full Text PDFJ Pediatr Rehabil Med
June 2022
Purpose: Congenital myotonic dystrophy (CDM) results in hypotonia and acute respiratory distress at birth. Previous studies show that prolonged periods of intubation (>4 weeks) correlate with increased mortality rates. The objective is to describe the use and duration of respiratory support in newborns with CDM and how these relate to mortality.
View Article and Find Full Text PDFObstructive 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.
View Article and Find Full Text PDFBackground: Iron supplementation is the most commonly considered treatment option for children with restless legs syndrome (RLS) or periodic limb movement disorder (PLMD); however, there is a scarcity of evidence on the effectiveness of intravenous preparations. In this study, we evaluated the effectiveness and tolerability of intravenous ferric carboxymaltose (IV FCM) on clinical symptoms and iron indices in children with RLS or PLMD.
Methods: This was a single-center retrospective data analysis.
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality.
View Article and Find Full Text PDFThe prevalence of obstructive sleep apnea (OSA) is increased in children and adults with Marfan syndrome (MFS) compared to the general population and has been shown to be associated with rapid aortic root dilation and dissection in adults. Early diagnosis and treatment of OSA may decrease long-term cardiac morbidity. We therefore studied the utility of noninvasive OSA screening tools in children with MFS.
View Article and Find Full Text PDFBackground: Obstructive sleep apnea affects approximately 1-4% of all children, with increased prevalence amongst overweight and obese children.
Objective: To assess the effects of drug-induced sleep endoscopy (DISE)-directed surgery on polysomnography parameters in obese and overweight children.
Material/methods: A retrospective case-series was performed on obese and overweight pediatric patients who underwent clinically indicated DISE-directed surgery.
Individuals with Duchenne muscular dystrophy (DMD) have evolving sleep and respiratory pathophysiology over their lifetimes. Across the lifespan of DMD, various sleep-related breathing disorders (SRBD) have been described, including obstructive sleep apnea, central sleep apnea, and nocturnal hypoventilation. In addition to SRBD, individuals with DMD can be affected by insomnia, chronic pain and other factors interfering with sleep quality, and daytime somnolence.
View Article and Find Full Text PDFBackground: Sleep-disordered breathing is commonly found in adults with heart failure both before and after HTx. Untreated sleep-disordered breathing post-transplant has been linked to late graft dysfunction, reduced quality of life, and increased morbidity. Sleep-disordered breathing has not been investigated in pediatric HTx recipients.
View Article and Find Full Text PDFStudy Objectives: The objective of this study was to describe the feasibility, acceptability, and preliminary efficacy of a novel Sleep Intervention for Kids and Parents (SKIP). Parent and child primary sleep outcomes were total sleep time, wake after sleep onset (WASO), sleep efficiency (SE), and bedtime range.
Methods: Children 6-11 years of age with asthma and 1 parent, both with behavioral sleep disturbance, enrolled in this single-group pilot.
Purpose: Drug-induced sleep endoscopy (DISE) is useful in children with obstructive sleep apnea (OSA) that persists after adenotonsillectomy (AT), but its utility in surgically naïve children is unclear. We report polysomnography outcomes of surgically naïve children who underwent DISE-directed intervention because they were considered high risk for persistent OSA after adenotonsillectomy.
Methods: This study is a case series of 62 surgically naïve children with OSA who were considered high risk for persistence after AT and underwent DISE-directed intervention with pre- and postoperative polysomnography between 2012 and 2016.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.
View Article and Find Full Text PDFDelRosso LM, Lehnert D, Chen ML.When sleeping with eyes closed is optional. 2019;15(10):1551–1553.
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