Home Latest news Consensus recommendations on mental health issues in Phelan-McDermid syndrome

Consensus recommendations on mental health issues in Phelan-McDermid syndrome

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Phelan-McDermid syndrome (PMS) 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. This report delineates mental health, developmental and behavioural themes across the lifetime of individuals with PMS as informed by parents/caregivers, experts, and other key professionals involved in PMS care.  In this report several recommendations based on the available literature concerning mental health and behaviour in PMS are put forward. Additionally, this article aims to improve the awareness of the importance of considering developmental level of the individual with PMS when assessing mental health and behavioural issues. Understanding how the discrepancy between developmental level and chronological age may impact concerning behaviours offers insight into the meaning of those behaviours and informs care for individuals with PMS, enabling clinicians to address unmet (mental health) care needs and improve quality of life. Read the full article here.

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