P Jha1, D Sheth, M Ghaziuddin. 1. Division of Child Psychiatry, University of Michigan Hospital, 200 East Hospital Drive, Ann Arbor, MI 48109-0277, USA.
Abstract
BACKGROUND: Autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. In about 10-25% of cases, it is associated with known medical conditions. Population-based studies of autism have found that Klinefelter's syndrome (KS), a common chromosome abnormality, is sometimes associated with autism. However, few detailed case descriptions of patients with KS and autism have not been published. CASE REPORT: In this paper, we describe the occurrence of autistic features in two cases of Klinefelter syndrome, one with the typical XXY karyotype and the other with the XXYY variant. CONCLUSION: Autistic features may be more common in persons with Klinefelter syndrome than generally believed. We propose that all patients with KS should be screened for the presence of autism.
BACKGROUND:Autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. In about 10-25% of cases, it is associated with known medical conditions. Population-based studies of autism have found that Klinefelter's syndrome (KS), a common chromosome abnormality, is sometimes associated with autism. However, few detailed case descriptions of patients with KS and autism have not been published. CASE REPORT: In this paper, we describe the occurrence of autistic features in two cases of Klinefelter syndrome, one with the typical XXY karyotype and the other with the XXYY variant. CONCLUSION:Autistic features may be more common in persons with Klinefelter syndrome than generally believed. We propose that all patients with KS should be screened for the presence of autism.
Authors: Zohreh Talebizadeh; Douglas C Bittel; Olivia J Veatch; Merlin G Butler; T Nicole Takahashi; Judith H Miles Journal: J Autism Dev Disord Date: 2004-12
Authors: K B Boone; R S Swerdloff; B L Miller; D H Geschwind; J Razani; A Lee; I G Gonzalo; A Haddal; K Rankin; P Lu; L Paul Journal: J Int Neuropsychol Soc Date: 2001-05 Impact factor: 2.892
Authors: J Hallmayer; J M Hebert; D Spiker; L Lotspeich; W M McMahon; P B Petersen; P Nicholas; C Pingree; A A Lin; L L Cavalli-Sforza; N Risch; R D Ciaranello Journal: Arch Gen Psychiatry Date: 1996-11
Authors: D H Geschwind; J Gregg; K Boone; J Karrim; A Pawlikowska-Haddal; E Rao; J Ellison; A Ciccodicola; M D'Urso; R Woods; G A Rappold; R Swerdloff; S F Nelson Journal: Dev Genet Date: 1998
Authors: Nicole R Tartaglia; Rebecca Wilson; Judith S Miller; Jessica Rafalko; Lisa Cordeiro; Shanlee Davis; David Hessl; Judith Ross Journal: J Dev Behav Pediatr Date: 2017-04 Impact factor: 2.225
Authors: Dorothy V M Bishop; Patricia A Jacobs; Katherine Lachlan; Diana Wellesley; Angela Barnicoat; Patricia A Boyd; Alan Fryer; Prisca Middlemiss; Sarah Smithson; Kay Metcalfe; Deborah Shears; Victoria Leggett; Kate Nation; Gaia Scerif Journal: Arch Dis Child Date: 2010-07-23 Impact factor: 3.791