Universität zu Köln

Thomason, Molly Mishler, McCarthy, John, Goin-Kochel, Robin P., Dowell, Lauren R., Schaaf, Christian P. and Berry, Leandra N. (2020). Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. J. Autism Dev. Disord., 50 (7). S. 2491 - 2501. NEW YORK: SPRINGER/PLENUM PUBLISHERS. ISSN 1573-3432

Full text not available from this repository.

Abstract

Truncating variants of theMAGEL2gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Thomason, Molly Mishler UNSPECIFIED UNSPECIFIED UNSPECIFIED McCarthy, John UNSPECIFIED UNSPECIFIED UNSPECIFIED Goin-Kochel, Robin P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dowell, Lauren R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaaf, Christian P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berry, Leandra N. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-328434
DOI:	10.1007/s10803-018-3775-7
Journal or Publication Title:	J. Autism Dev. Disord.
Volume:	50
Number:	7
Page Range:	S. 2491 - 2501
Date:	2020
Publisher:	SPRINGER/PLENUM PUBLISHERS
Place of Publication:	NEW YORK
ISSN:	1573-3432
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRADER-WILLI-SYNDROME; MALADAPTIVE BEHAVIOR; TRUNCATING MUTATIONS; CHILDREN; MAGEL2 Multiple languages Psychology, Developmental Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32843