22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

1. Causes of the disease

22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a genetic disorder caused by a deletion in the distal part of the long arm of chromosome 22 (22q13). This deletion affects genes involved in neurodevelopment and bodily functions. It is usually caused by a mutation, but can also be inherited.

2. Symptoms

• Severe developmental delay : There is often significant delay in language and motor skills.
• Intellectual disability : Often associated with moderate to severe intellectual disability.
• Hypotonia : Muscles may be weak, affecting your ability to exercise.
• Behavioral abnormalities : Characteristics of an autism spectrum disorder may be seen.
• Internal organ abnormalities : Some patients may have kidney or cardiac abnormalities.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Medical Management : If you have any cardiac or renal abnormalities, appropriate medical management will be provided.
• Behavioral Therapy : Psychological and behavioral therapy may be used to treat behavioral problems.

4. Prognosis

Depending on the severity of the symptoms and the appropriate support, early intervention can be expected to improve quality of life.

5. The burden on parents

Because long-term medical support and rehabilitation are required, this places a large financial and psychological burden on families. It is important to provide support for families through collaboration with medical professionals and support groups.