Abstract
Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a...Continue Reading
References
Mar 29, 1996·American Journal of Medical Genetics·F GreenbergJ R Lupski
Jun 5, 1998·American Journal of Medical Genetics·A C SmithF Greenberg
Feb 25, 1999·Journal of Intellectual Disability Research : JIDR·E M Dykens, A C Smith
Jun 14, 2000·Journal of Medical Genetics·L PotockiJ R Lupski
Mar 30, 2006·Journal of Autism and Developmental Disorders·Staci C MartinAnn C M Smith
May 2, 2006·Pediatric Neurology·Andrea L GropmanAnn C M Smith
May 26, 2006·Molecular and Cellular Endocrinology·Hélène De LeersnyderAlain Verloes
Jun 16, 2006·Journal of Developmental and Behavioral Pediatrics : JDBP·Niru MadduriLorraine Potocki
Jul 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Santhosh GirirajanSarah H Elsea
May 1, 2007·Journal of Medical Genetics·J AndrieuxJ-P Kerckaert
Jan 31, 2008·European Journal of Human Genetics : EJHG·Sarah H Elsea, Santhosh Girirajan
Feb 2, 2008·IEEE Transactions on Neural Networks·Chengjun Liu, H Wechsler
Aug 19, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Adriana SampaioOscar F Gonçalves
Dec 23, 2009·Neuropsychologia·Sinéad M RhodesLorna Elise Campbell
Citations
Sep 5, 2015·Orphanet Journal of Rare Diseases·Alice PoissonCaroline Demily
May 3, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A PoissonC Demily
Sep 10, 2014·Research in Developmental Disabilities·Elena Garayzábal HeinzeAdriana Sampaio
May 14, 2017·Journal of Autism and Developmental Disorders·Lucy Wilde, Chris Oliver
May 3, 2019·Journal of Intellectual Disabilities : JOID·Heidi Elisabeth NagTerje Nærland
Jul 25, 2019·International Journal of Molecular Sciences·Alice PoissonCaroline Demily