Abstract
KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive fun...Continue Reading
References
Sep 24, 2004·American Journal of Medical Genetics. Part a·Gustavo Henrique Boff MaegawaHeloísa Emília da Silveira
Nov 4, 2004·American Journal of Medical Genetics. Part a·Francesco BrancatiBruno Dallapiccola
Jun 14, 2005·Biological Psychiatry·Erik G WillcuttBruce F Pennington
Feb 17, 2006·Journal of Attention Disorders·Susan Dickerson Mayes, Susan L Calhoun
Jan 19, 2007·American Journal of Medical Genetics. Part a·K L SkjeiA M Slavotinek
Jul 15, 2009·Journal of Autism and Developmental Disorders·Mina HahJoachim F Hallmayer
Apr 1, 2010·Clinical Dysmorphology·Renske OegemaGrazia M S Mancini
Nov 28, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Adriana Lo-CastroPaolo Curatolo
Mar 7, 2013·American Journal of Medical Genetics. Part a·Satoko MiyatakeNaomichi Matsumoto
Jan 23, 2014·Journal of Attention Disorders·Johanna Theiling, Franz Petermann
May 20, 2014·American Journal of Medical Genetics. Part a·Sanjin TunovicAnne M Slavotinek
Nov 22, 2014·Human Genetics·Katherina WalzMustafa Tekin
Nov 27, 2014·European Journal of Human Genetics : EJHG·Charlotte W OckeloenTjitske Kleefstra
Dec 3, 2014·European Journal of Medical Genetics·Hyo Jeong KimHyon J Kim
Dec 24, 2014·Nature·UNKNOWN Deciphering Developmental Disorders Study
Oct 2, 2015·Assessment·Loes van AkenJos I M Egger
Sep 9, 2016·American Journal of Medical Genetics. Part a·Alice GoldenbergNicole Philip
Sep 27, 2016·American Journal of Medical Genetics. Part a·Karen LowSarah Smithson
Citations
Mar 4, 2020·American Journal of Medical Genetics. Part a·Maria GnazzoMaria Cristina Digilio
Nov 11, 2019·Brain Sciences·Paolo AlfieriStefano Vicari
Dec 3, 2020·Frontiers in Genetics·Su Jin KimJi Eun Lee
May 1, 2021·Journal of Clinical Medicine·Paolo AlfieriStefano Vicari