How to cite this article: Festen DAM, Wevers M, de Weerd AW, van den Bossche RAS, Duivenvoorden HJ, Hokken-Koelega ACS. 2008. Cognition and behavior in pre-pubertal children with Prader–Willi syndrome and associations with sleep-related breathing disorders. Am J Med Genet Part A 146A:3018–3025.
Cognition and behavior in pre-pubertal children with Prader–Willi syndrome and associations with sleep-related breathing disorders†
Article first published online: 12 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 23, pages 3018–3025, 1 December 2008
How to Cite
Festen, D. A.M., Wevers, M., de Weerd, A. W., van den Bossche, R. A.S., Duivenvoorden, H. J. and Hokken-Koelega, A. C.S. (2008), Cognition and behavior in pre-pubertal children with Prader–Willi syndrome and associations with sleep-related breathing disorders. Am. J. Med. Genet., 146A: 3018–3025. doi: 10.1002/ajmg.a.32241
- Issue published online: 20 NOV 2008
- Article first published online: 12 NOV 2008
- Manuscript Accepted: 25 NOV 2007
- Manuscript Received: 20 JUN 2007
- Prader–Willi syndrome;
- sleep-related breathing;
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 Wechsler 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 (interquartile range) scores for the Block design subtest (−2.7 SDS (−3.0 to −0.3)). In 60%, verbal subtests 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, behavior was worse in children with better sleep-related breathing. In pre-pubertal PWS children, cognition 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. © 2008 Wiley-Liss, Inc.