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Article Dans Une Revue Clinical Genetics Année : 2021

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

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.
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Dates et versions

hal-03171933 , version 1 (17-03-2021)

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Nicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, Hélène Deleersnyder, Faustine Ageorges, et al.. Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Clinical Genetics, 2021, 99 (4), pp.519-528. ⟨10.1111/cge.13906⟩. ⟨hal-03171933⟩
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