Cognition and Behavior in Pre-Pubertal Children With Prader-Willi Syndrome and Associations With Sleep-Related Breathing Disorders

Dederieke Maes - Festen, M Wevers, AW de Weerd, RAS van den Bossche, Hugo Duivenvoorden, Anita Hokken - Koelega

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Prader-Willi syndrome (PWS) is characterized by hypotonia hypogonadism, obesity, and short stature. Neurobehavioral abnormalities, cognitive impairment, and sleep-related breathing disorders (SRBD) are common. In the general population associations between neurobehavioral and cognitive abnormalities and SRBD have been found. We investigated cognition, behavior, and SRBD in children with PWS. Thirty-one pre-pubertal PWS children were evaluated (5 with paternal deletion, 14 with maternal disomy, 4 with imprinting-center mutation, and in 8 the defect was not specified). Cognition was assessed by Wechler scale subtests, and behavior by parent-questionnaires. Polysomnography was performed. Cognition, behavior, and associations with SRBD were evaluated. All cognitive subtests were significantly below O SDS, with the lowest median (interquatile range) scores for the Block design subtest (-2.7 SDS(-3.0 to -0.3)). In 60%, verbal subsets were less affected than performance subtests. Parents reported problem behavior related to "emotions/behavior not adapted to the social situation" and "insensitivity to social information". All children had SRBD, with an Apnea Hypopnea Index of 4.1/hr (2.6-7.9). One performance subtest score was significantly higher in children with better sleep efficiency, and daytime sleepiness was associated with more autistic-like social impairment in contrast to our expectations, behaviors was worse in children with better sleep-related breathing. In pre-pubertal PWS children, cognitive is impaired. Neurobehavioral abnormalities are common, particularly autistic-like social impairment. Sleep efficiency was associated with better performance on one of the performance subtests, and neurobehavioral abnormalities were associated with daytime sleepiness. In contrast, we could not confirm a positive association of neurobehavioral abnormalities with SRBD in PWS. (C) 2008 Wiley-Liss, Inc.
Original languageUndefined/Unknown
Pages (from-to)3018-3025
Number of pages8
JournalAmerican Journal of Medical Genetics Part A
Issue number23
Publication statusPublished - 2008

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  • EMC MM-01-54-01

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