Title :

Smith-magenis syndrome (sms): clinical and behavioral characteristics in a large retrospective cohort

Author(s) :

Rive Le Gouard, Nicolas [Auteur]
Jacquinet, Adeline [Auteur]
Ruaud, Lyse [Auteur]
Deleersnyder, Helene [Auteur]
Ageorge, Faustine [Auteur]
Gallard, Jennifer [Auteur]
Lacombe, Didier [Auteur]
Odent, Sylvie [Auteur]
Mikaty, Myriam [Auteur]
Manouvrier, Sylvie [Auteur]
Ghoumid, Jamal [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - ULR 7364
Genevieve, David [Auteur]
Lehman, Natacha [Auteur]
Philip, Nicole [Auteur]
Edery, Patrick [Auteur]
Heron, Delphine [Auteur]
Rastel, Coralie [Auteur]
Chancenotte, Sophie [Auteur]
Thauvin-Robinet, Christel [Auteur]
Faivre, Laurence [Auteur]
Perrin, Laurence [Auteur]
Verloes, Alain [Auteur]

Journal title :

Clinical Genetics

Abbreviated title :

Clin Genet

Publication date :

2020-12-27

ISSN :

1399-0004

Keyword(s) :

obstipation
Smith&#8208
social impact
Magenis
2
clinical characteristics
17p11
neurodevelopmental disorder

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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. ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2021-09-02T07:02:41Z