TY - THES ID - 134754486 TI - The clinical, developmental and behavioural aspects in Phelan-McDermid syndrome (22q13.3 deletion) AU - Vanden Eynde, Nathalie AU - Van Buggenhout, Griet AU - KU Leuven. Faculteit Geneeskunde. Opleiding Master in de geneeskunde (Geen nieuwe inschrijvingen vanaf 2015-2016) (Leuven) PY - 2017 PB - Leuven KU Leuven. Faculteit Geneeskunde DB - UniCat UR - https://www.unicat.be/uniCat?func=search&query=sysid:134754486 AB - Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a heterogeneous monogenetic syndrome. Patients present a diversity of medical, developmental and behavioural features. The aim of the present study is to further characterize the phenotype of patients with PMS. This study is a monocentric, retrospective study consisting of 14 patients with a cytogenetic proven 22q13.3 deletion. Major findings are developmental delay in combination of a large phenotypic variability, altered neurological findings such as hypotonia, gait difficulties and epilepsy, language impairment combined with regression, altered behaviour and a high incidence of psychiatric disorders. Longitudinal follow-up and more prospective studies are needed to determine the natural course of the syndrome with advancing age. ER -