Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities

American Journal of Medical Genetics. Part a
Karlijn VermeulenTjitske Kleefstra

Abstract

Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID. In total, we studied 58 individuals (28 males, 30 females) with ID; 24 were diagnosed with KS, 13 with Koolen-de Vries Syndrome, 6 with the GATAD2B-related syndrome, and 15 individuals with undefined neurodevelopmental disorders. All individuals were examined with a Vineland Adaptive Behavior Scale, mini PAS-ADD interview, and an Autism Diagnostic Observation Schedule to obtain measures of adaptive and maladaptive functioning. Each of the three distinctive genetic disorders showed its own specific profile of adaptive and maladaptive functi...Continue Reading

References

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Citations

May 16, 2019·Disease Models & Mechanisms·Mireia Coll-TanéAnnette Schenck
Dec 3, 2020·Cellular and Molecular Life Sciences : CMLS·Britt MossinkNael Nadif Kasri
Nov 16, 2020·Disability and Health Journal·Alexandria HaseleySuzanne DeBrosse
Jul 21, 2020·European Journal of Medical Genetics·Gabriella VeraAnne-Marie Guerrot
May 20, 2021·Neurocase·Clémence De TaevernierJeremy Madigand
Jul 10, 2021·Genes, Brain, and Behavior·Lot Snijders BlokTjitske Kleefstra

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