Smith-Magenis Syndrome

1. Causes of the disease

Smith-Magenis syndrome (SMS) is a rare genetic disorder usually caused by a deletion in the short arm of chromosome 17 (region 17p11.2), which can disrupt a variety of genes that affect development, behavior, sleep, and physical characteristics.

2. Symptoms

• Intellectual disability and developmental delays : Delays in language and motor skills, and intellectual disability are common.
• Behavioral abnormalities : Self-injurious behavior, hyperactivity, mood swings, and aggressive behavior may be observed.
• Sleep disorders : Disturbances in the sleep cycle are characteristic and day-night patterns may be reversed.
• Distinctive facial features : People have distinctive facial features.
• Internal organ abnormalities : Some patients may have cardiac, renal, or skeletal abnormalities.

3. Treatment

• Behavioral support : Psychological therapy and support for behavioral disorders is provided.
• Developmental Support : Utilizing physical, occupational and speech therapy to support development.
• Sleep Management : Medications and behavioral therapies may be used to manage sleep disorders.

4. Prognosis

Depending on the severity of the individual condition, appropriate support can improve the quality of life for patients. Behavioral problems require long-term intervention.

5. The burden on parents

Since behavioral support and medical management are often long-term, the burden on families can be great. It is important to have a system in place to support families through collaboration with support groups and specialized institutions.