Purpose: Evidence suggests that while the high prevalence of obstructive sleep apnea (OSA) in children with Down syndrome (DS) likely contributes to sleep fragmentation, their poor sleep is only partly attributable to the presence of OSA. We hypothesized that a sleep phenotype exists for DS, which would be independent of OSA and evident across childhood.
Methods: This is a retrospective study of sleep architecture in children with DS together with matched controls. All subjects underwent baseline polysomnography between January 1985 and January 2013. Case-control pairs were compared according to age group.
Results: Sleep characteristics were compared in 130 DS subjects aged 0-17.8 years (median 5.8 years) and 130 matched controls. Body mass index z-scores were similar between cases and controls. Compared to controls, children with DS had a lower sleep efficiency and higher percentage of slow-wave sleep at 2-6.9, 7-11.9, and 12-17.9 years (p <0.05 for all) as well as reduced rapid-eye movement (REM) sleep percentage, significant at 7-11.9 years (p <0.05). Children with DS exhibited increased N1 sleep at 2-6.9 years but decreased N1 sleep at 12-17.9 years compared to controls (p <0.05 for both).
Conclusions: Children with DS exhibit altered sleep architecture when compared to non-DS children of similar age and OSA severity. Notably, reduced REM sleep and increased slow-wave sleep was seen independent of OSA in children with DS over 2 years. Amounts of both REM and non-REM sleep may have important implications for learning, memory, and behavior, all the more significant in this population with baseline neurocognitive impairment.
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http://dx.doi.org/10.1007/s11325-014-1094-6 | DOI Listing |
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFEpilepsia
January 2025
National Center for Epilepsy, Division of Clinical Neuroscience, full member of European Reference Network EpiCARE, Oslo University Hospital, Oslo, Norway.
Objective: This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.
Methods: The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway's universal health care system and mandatory reporting to the Norwegian Patient Registry.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFDev Med Child Neurol
January 2025
Paediatric Neurology, University of Sydney and Children's Hospital at Westmead, Westmead, Australia.
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
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