Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey

European Phelan-McDermid syndrome consortium, Annemiek M Landlust, Sylvia A Koza, Maya Carbin, Margreet Walinga, Sandra Robert, Jennifer Cooke, Klea Vyshka, Ingrid D C van Balkom, Conny van Ravenswaaij-Arts

Research output: Contribution to journalArticlepeer-review

Abstract

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like regression, autism and mood disorders. In the development, implementation and dissemination of a new clinical guideline for a rare genetic disorder like PMS, the parental experienced perspective is essential. As information from literature is scarce and often conflicting the European Phelan-McDermid syndrome guideline consortium created a multi-lingual survey for parents of individuals with PMS to collect their lived experiences with care needs, genotypes, somatic issues, mental health issues and parental stress. In total, we analysed 587 completed surveys from 35 countries worldwide. Based on parental reporting, PMS appeared to be caused by a deletion of chromosome 22q13.3 in 78% (379/486) of individuals and by a variant in the SHANK3 gene in 22% (107/486) of the individuals. Parents reported a wide variety of developmental, neurological, and other clinical issues in individuals with PMS. The most frequently experienced issues were related to speech and communication, learning disabilities/intellectual disability, and behaviour. While most reported issues were present across all age groups and genotypes, the prevalence of epilepsy, lymphoedema, and mental health issues do appear to vary with age. Developmental regression also appeared to begin earlier in this cohort than described in literature. Individuals with PMS due to a 22q13.3 deletion had a higher rate of kidney issues and lymphoedema compared to individuals with SHANK3 variants. Parental stress was high, with specific contributing factors being child and context related in accordance with the PMS phenotype. The survey results led to various validated recommendations in the European PMS guideline including an age specific surveillance scheme, specific genetic counselling, structured healthcare evaluations on sleep and communication and a focus on family well-being.
Original languageEnglish
Article number104771
Number of pages9
JournalEuropean journal of medical genetics
Volume66
Issue number7
Early online date28 Apr 2023
DOIs
Publication statusPublished - 30 Jul 2023

Keywords

  • Humans
  • Intellectual Disability/genetics
  • Chromosome Disorders/genetics
  • Chromosome Deletion
  • Parents
  • Chromosomes, Human, Pair 22/genetics

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