Fiche publication
Date publication
décembre 2020
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
,
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorge F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A
Lien Pubmed
Résumé
Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective cohort, we studied the clinical, cognitive and behavioral profile of 47 European patients with SMS caused by a 17p11.2 deletion. We update the clinical and neurobehavioral profile of SMS. Intrauterine growth was normal in most patients. Prenatal anomalies were reported in 15%. 60 % of our patients older than 10 years were overweight. Prevalence of heart defects (6,5% tetralogy of Fallot, 6,5% pulmonary stenosis), ophthalmological problems (89%), scoliosis (43%), or deafness (32%) were consistent with previous reports. Epilepsy was uncommon (2%) We identified a high prevalence of obstipation (45%.) All patients had learning difficulties and developmental delay, but ID range was wide and 10% of patients had IQ in the normal range. Behavioral problems included temper tantrums and other difficult behaviors (84%) and night-time awakenings (86%.) Optimal care of SMS children is multidisciplinary and requires important parental involvement. In our series, half of patients were able to follow adapted schooling, but 70% of parents had to adapt their working time, illustrating the medical, social, educative and familial impact of having a child with SMS. This article is protected by copyright. All rights reserved.
Mots clés
17p11.2, Clinical characteristics, Neurodevelopmental disorder, Obstipation, Smith-Magenis, Social impact
Référence
Clin Genet. 2020 Dec 27;:
