Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).
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.


METHODS
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.


CONCLUSIONS
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.
Treadwell-Deering
Diane E
DE
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
Powell
M Paige
MP
Potocki
Lorraine
L
D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis; D002886:Chromosomes, Human, Pair 17; D003072:Cognition Disorders / Q000175:diagnosis; D003142:Communication; D005260:Female; D006801:Humans; D007398:Interpersonal Relations; D007406:Interview, Psychological; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis; D009483:Neuropsychological Tests; D010641:Phenotype; D013239:Stereotyped Behavior; D013577:Syndrome; D044465:White People