Abstract
KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 patients with other genetic disorders with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen's d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome sh...Continue Reading
References
Mar 26, 2004·Manual Therapy·Eythor Kristjansson
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
Mar 17, 2010·Psychological Assessment·Nicholas BensonJohn H Kranzler
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
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
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
Dec 8, 2016·Korean journal of anesthesiology·Dong Kyu Lee
Jan 31, 2017·Nature·UNKNOWN Deciphering Developmental Disorders Study
Apr 20, 2017·European Journal of Human Genetics : EJHG·Francesca NovaraOrsetta Zuffardi
Apr 28, 2017·American Journal of Medical Genetics. Part a·Natalia MurrayHimanshu Goel
Citations
Nov 11, 2019·Brain Sciences·Paolo AlfieriStefano Vicari
Jan 22, 2021·Seizure : the Journal of the British Epilepsy Association·Rosaria NardelloVincenzo Salpietro
Mar 4, 2021·BMC Medical Genomics·Jing ChenQiwei Guo
May 1, 2021·Journal of Clinical Medicine·Paolo AlfieriStefano Vicari
Jul 10, 2021·Genes, Brain, and Behavior·Lot Snijders BlokTjitske Kleefstra
Oct 15, 2021·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Sharon M Kolk, Pasko Rakic