| Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). | |
MedLine Citation:
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PMID: 20110824 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe the cognitive and behavioral phenotypic features of the Potocki-Lupski syndrome (duplication 17p11.2), a recently recognized syndrome with multiple congenital anomalies and developmental delays. METHOD: Fifteen subjects were enrolled in an extensive multidisciplinary clinical protocol. Cognitive and behavior evaluations included a parent-report medical and psychological history form, intellectual assessment and assessments of adaptive behavior, executive functioning, and maladaptive behavior and emotions. Eight of the families completed an Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule-Generic. RESULTS: The majority of patients (13 of 15) presented with intellectual disability. Moreover, the majority of patients also had moderate to severe behavioral difficulties, including atypicality, withdrawal, anxiety, and inattention. Many patients characterized also presented with autistic symptom pictures, some of whom (10 of 15) met diagnostic criteria for an autistic spectrum disorder, namely autistic disorder or pervasive developmental disorder not otherwise specified. CONCLUSION: This work expands on the behavioral phenotype of duplication 17p11.2 (Potocki-Lupski syndrome). Further phenotypic analysis will aid in clinical diagnosis, counseling, and management of this newly characterized microduplication syndrome. The association between this syndrome and autistic spectrum disorder may contribute to further understanding the etiology of the pervasive developmental disorders. |
Authors:
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Diane E Treadwell-Deering; M Paige Powell; Lorraine Potocki |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of developmental and behavioral pediatrics : JDBP Volume: 31 ISSN: 1536-7312 ISO Abbreviation: J Dev Behav Pediatr Publication Date: 2010 Feb-Mar |
Date Detail:
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Created Date: 2010-02-10 Completed Date: 2010-05-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8006933 Medline TA: J Dev Behav Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 137-43 Citation Subset: IM |
Affiliation:
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Division of Child and Adolescent Psychiatry, The Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030-2399, USA. dianet@bcm.tmc.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Autistic Disorder / diagnosis Child Child, Preschool Chromosome Disorders* / diagnosis Chromosomes, Human, Pair 17* Cognition Disorders* / diagnosis Communication European Continental Ancestry Group Female Humans Interpersonal Relations Interview, Psychological Male Mental Disorders* / diagnosis Neuropsychological Tests Phenotype* Stereotyped Behavior Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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H-23066//PHS HHS; M01RR00188/RR/NCRR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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