Neurocognitive and neurobehavioural characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Fiche publication
Date publication
juillet 2022
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
Tous les auteurs :
Durand B, Schaefer E, Burger P, Baer S, Schroder C, Mandel JL, Piton A, Coutelle R
Lien Pubmed
Résumé
DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, their behavioural phenotype has not systematically been studied using standardized assessment tools. To characterize the latter, we conducted a retrospective study, collecting data on developmental history, Autism Spectrum Disorder (ASD), adaptive functioning, behavioural assessments, and sensory processing of individuals with these syndromes (n=14;21). In addition, we analysed information collected from families (n=20;20) using the GenIDA database, an international patient-driven data collection aiming to better characterize natural history of genetic forms of NDDs. In the retrospective study, individuals with DYRK1A syndrome showed lower adaptive behaviour scores compared to those with WSS, whose scores showed greater heterogeneity. An ASD diagnosis was established for 57% (8/14) of individuals with DYRK1A syndrome and 24% (5/21) of those with WSS. Language and communication were severely impaired in individuals with DYRK1A syndrome, which was also evident from GenIDA data, whereas in WSS patients, exploration of behavioural phenotypes revealed the importance of anxiety symptomatology and ADHD signs, also flagged in GenIDA. This study, describing the behavioural and sensorial profiles of individuals with WSS and DYRK1A syndrome, highlighted some specificities important to be considered for patients' management.
Mots clés
ADHD, DYRK1A, KMT2A, Wiedemann-Steiner syndrome, anxiety, autism spectrum disorder, behavioural phenotype, communication
Référence
Clin Genet. 2022 07 12;: