Autism Spectrum Features in Smith-Magenis Syndrome

被引:76
|
作者
Laje, Gonzalo [3 ,4 ]
Morse, Rebecca [4 ]
Richter, William
Ball, Jonathan
Pao, Maryland [2 ]
Smith, Ann C. M. [1 ]
机构
[1] NHGRI, Off Clin Director, Div Intramural Res, NIH, Bethesda, MD 20892 USA
[2] NIH, Psychiat Consultat Liaison Serv, Hatfield Clin Res Ctr, Bethesda, MD 20892 USA
[3] NIMH, Intramural Res Program, NIH, Bethesda, MD 20892 USA
[4] George Mason Univ, Fairfax, VA 22030 USA
关键词
del; 17p11.2; RAI1; microdeletion syndrome; behavioral phenotype; social communication; SYNDROME DEL 17P11.2; MALADAPTIVE BEHAVIOR; CHILDREN; MELATONIN; SLEEP; DELETION;
D O I
10.1002/ajmg.c.30275
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P=0.02), in the social cognition (P=0.01) and autistic mannerisms (P=0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders. Published 2010 Wiley-Liss, Inc.dagger
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收藏
页码:456 / 462
页数:7
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