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Social behavior profile in young males with fragile X syndrome: Characteristics and specificity
American journal of medical genetics, 2004-04, Vol.126A (1), p.9-17
Kau, Alice S.M.
Tierney, Elaine
Bukelis, Irena
Stump, Mariah H.
Kates, Wendy R.
Trescher, William H.
Kaufmann, Walter E.
2004
Details
Autor(en) / Beteiligte
Kau, Alice S.M.
Tierney, Elaine
Bukelis, Irena
Stump, Mariah H.
Kates, Wendy R.
Trescher, William H.
Kaufmann, Walter E.
Titel
Social behavior profile in young males with fragile X syndrome: Characteristics and specificity
Ist Teil von
American journal of medical genetics, 2004-04, Vol.126A (1), p.9-17
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2004
Link zum Volltext
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
The present study characterizes distinctive and specific features of social behavior impairment, termed social behavior profile (SBP), in young males with fragile X syndrome (FraX). Fourteen males with FraX and autism (FraX+Aut), ages 3–8 years, were compared with either 41 FraX boys without autism (Aut), 7 age‐matched males with developmental language delay and autism (DLD+Aut), or with 11 boys with non‐selected (for language delay) idiopathic autism (IA), on several standardized instruments assessing social behavior and autistic features (i.e., autism diagnostic interview‐revised, ADI‐R). We found that FraX+Aut subjects displayed more impairment in overall cognition, problem/aberrant behavior, and adaptive behavior than the rest of the FraX cohort, even when individuals with pervasive developmental disorder (PDD) were included in the latter. Compared to both DLD+Aut and IA, FraX+Aut males were less impaired in ADI‐R reciprocal social interaction (RECS) domain. However, boys with FraX+Aut were in general comparable to DLD+Aut subjects in problem/aberrant and adaptive behaviors. Based on the contrast between FraX+Aut and non‐autistic FraX and DLD+Aut, we were able to identify measures (e.g., child behavior checklist (CBCL) withdrawn subscale) that better define social interaction impairment in FraX. Comparisons with DLD+Aut and IA led to the conclusion that communication impairment (COMM) and stereotypic behavior contribute relatively more to the diagnosis of autism in FraX+Aut. In agreement with recent studies, our data suggest that FraX+Aut, and more generally SBP, is a distinctive subphenotype among boys with FraX, which may share some pathophysiological mechanisms with IA. © 2004 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 0148-7299
eISSN: 1552-4833, 1096-8628
DOI: 10.1002/ajmg.a.20218
Titel-ID: cdi_proquest_miscellaneous_71749090
Format
–
Schlagworte
Adolescent
,
autism
,
autism diagnostic interview
,
Autistic Disorder - diagnosis
,
Autistic Disorder - genetics
,
Autistic Disorder - psychology
,
Biological and medical sciences
,
Child
,
Child Behavior
,
child behavior checklist
,
Child, Preschool
,
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
,
fragile X
,
Fragile X Syndrome - diagnosis
,
Fragile X Syndrome - genetics
,
Fragile X Syndrome - psychology
,
Humans
,
Language Development Disorders
,
Male
,
Medical genetics
,
Medical sciences
,
Neuropsychological Tests - statistics & numerical data
,
Sensitivity and Specificity
,
Social Behavior
,
social behavior profile
,
social withdrawal
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