Document Detail

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).
MedLine Citation:
PMID:  20110824     Owner:  NLM     Status:  MEDLINE    
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.
Diane E Treadwell-Deering; M Paige Powell; Lorraine Potocki
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Publication Detail:
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:
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:
Created Date:  2010-02-10     Completed Date:  2010-05-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8006933     Medline TA:  J Dev Behav Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  137-43     Citation Subset:  IM    
Division of Child and Adolescent Psychiatry, The Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030-2399, USA.
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MeSH Terms
Autistic Disorder / diagnosis
Child, Preschool
Chromosome Disorders* / diagnosis
Chromosomes, Human, Pair 17*
Cognition Disorders* / diagnosis
European Continental Ancestry Group
Interpersonal Relations
Interview, Psychological
Mental Disorders* / diagnosis
Neuropsychological Tests
Stereotyped Behavior
Grant Support
H-23066//PHS HHS; M01RR00188/RR/NCRR NIH HHS

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