The behavioral phenotype of the idic(15) syndrome

Authors

  • Agatino Battaglia,

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    • Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti, 2—56128 Calambrone, Pisa, Italy.
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    • Dr. Agatino Battaglia is Contract Professor of Child Neuropsychiatry at the Postgraduate Medical School, University of Pisa, Italy; and Adjunct Professor of Pediatrics at the University of Utah Health Sciences Center, Division of Medical Genetics, Department of Pediatrics, Salt Lake City, UT, USA. He is board certified in Clinical Pediatrics and in Neurology. He is Director of the Clinical Dysmorphology Unit, Head of the Center for the Study of Congenital Malformation Syndromes, and Director of Research in Neuropsychiatric Genetics at the Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone (Pisa), Italy. He is Associate Editor of the American Journal of Medical Genetics. He has a strong research interest in clinical dysmorphology, neuropsychiatric genetics, and clinical neurophysiology.

  • Barbara Parrini,

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    • Dr. Barbara Parrini is a Psychologist working at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy. She has strong research interests in the neuropsychological and behavioural profiles of individuals with chromosomal and pervasive developmental disorders.

  • Raffaella Tancredi

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    • Dr. Raffaella Tancredi is a Child Neuropsychiatrist, and Psychoanalyst, working at The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone (Pisa), Italy. She is Contract Professor of Child Neuropsychiatry at the Post-Graduate Medical School in Child Neuropsychiatry, University of Pisa; and has strong research interests in the clinics of pervasive developmental disorders. She has contributed to the Italian version of ADIR and ADOS.


  • How to cite this article: Battaglia A, Parrini B, Tancredi R. 2010. The Behavioral Phenotype of the idic(15) Syndrome. Am J Med Genet Part C Semin Med Genet 154C:448–455.

Abstract

Idic(15) syndrome is a neurogenetic disorder clinically delineated by early central hypotonia, developmental delay and intellectual disability (ID), epilepsy, absent or very poor speech, and autistic or autistic-like behavior. It is due to the presence of a supernumerary marker chromosome formed by the inverted duplication of proximal chromosome 15, resulting in tetrasomy 15p and partial tetrasomy 15q, and containing the Prader–Willi/Angelman syndrome critical region (PWS/ASCR). The vast majority of these idic(15) derives from the two homologous maternal chromosomes at meiosis. To better define the behavior profile, we studied 22 idic(15) children (15 males and 7 females) observed at our institute between 1986 and 2010, and present, in detail, case studies of five of them. We have been able to perform standardized and semi-standardized measures of intelligence, and psychopathology in only 13 of our 22 patients, due to the limitations of chronological age, and to the severity of ID (ranging from mild–moderate, in 15%, to severe–profound, in 85% of our sample). The results show a distinct developmental profile in idic(15) patients, that may provide a behavioral signature for autism spectrum disorder (ASD)/ASD-like arising from the susceptibility locus on proximal 15q; and suggest that idic(15) individuals are not “true autistic,” but distinct “autistic-like” persons with high score in the third ADOS-G and ADI-R area. © 2010 Wiley-Liss, Inc.

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