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What is Phelan-McDermid Syndrome?

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder caused by a deletion or mutation in the SHANK3 gene located on chromosome 22. This condition affects brain development and function, leading to a range of physical, cognitive, and behavioral symptoms.

Key Characteristics of PMS
  • Developmental Delays: Children with PMS often experience significant delays in reaching developmental milestones such as walking and talking.

  • Intellectual Disability: Many individuals with PMS have intellectual disabilities, which can range from mild to severe.

  • Speech Impairment: Speech and language delays are common, with many children being nonverbal or having limited speech.

  • Autism Spectrum Disorder (ASD) Symptoms: A large proportion of individuals with PMS display symptoms associated with ASD, such as social communication challenges and repetitive behaviours.

  • Low Muscle Tone: Hypotonia, or low muscle tone, is often present, contributing to delays in motor skills development.

  • Seizures: Epileptic seizures are reported in some individuals with PMS.

  • Sleep Disorders: Many children with PMS experience sleep disturbances, including difficulties falling or staying asleep.

  • Medical Issues: Other medical concerns can include gastrointestinal problems, renal abnormalities, and immunological issues.
Diagnosis

PMS is diagnosed through genetic testing, typically using techniques such as chromosomal microarray analysis or whole exome sequencing to identify deletions or mutations in the SHANK3 gene.

Management and Treatment:

There is currently no cure for PMS, and treatment is focused on managing symptoms and improving quality of life. This often involves a multidisciplinary approach, including:

  • Speech Therapy: To address language and communication challenges.

  • Occupational Therapy: To support motor skills development and daily living activities.

  • Physical Therapy: To improve muscle tone and coordination.

  • Behavioural Therapy: To help manage ASD-related symptoms and other behavioural issues.

  • Medical Management: Addressing specific medical concerns, such as seizures or gastrointestinal problems, through appropriate medications and interventions.
Research and Support

 The Phelan-McDermid Syndrome Foundation (PMSF) plays a crucial role in raising awareness, providing support to families, and promoting research to better understand and treat PMS. The foundation offers resources, connects families, and advocates for increased funding and research efforts to find effective treatments and ultimately a cure for PMS.

For more detailed information and resources, please visit the Phelan-McDermid Syndrome Foundation.