2 results match your criteria: "Rare Disease Center for Intellectual Disabilities[Affiliation]"
Consensus recommendations on mental health issues in Phelan-McDermid syndrome.
Eur J Med Genet
June 2023
Excellence Center for Autism Spectrum & Neurodevelopmental Disorders, Inovand, Child and Adolescent Psychiatry Department, Hôpital Robert Debre, Aphp, Paris, France; CRMR DICR, Rare Disease Center for Intellectual Disabilities, Defiscience, France.
Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region or a pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics include global developmental delay/intellectual disability (ID), marked speech impairment or delay, along with other features like hypotonia and somatic or psychiatric comorbidities.
View Article and Find Full Text PDFConsensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
Eur J Med Genet
July 2023
Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, the Netherlands.
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF).
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