Alpha-thalassemia/Mental Retardation Syndrome, Chromosome 16-Related (ATR-16 Syndrome) – 16p13 region

1. Causes of the disease

ATR-16 syndrome is a rare disorder caused by a deletion of a gene in the short arm of chromosome 16 (16p13 region). This deletion results in a blood disorder called α-thalassemia and multiple symptoms that cause intellectual disability and developmental delay. It usually occurs as a partial deletion of the gene due to a de novo mutation, but in rare cases it can be inherited genetically.

2. Symptoms

• Alpha-thalassemia : Anemia may occur due to abnormalities in red blood cells. The severity of the condition depends on the severity of the deficiency.
• Developmental delays and intellectual disability : Development of language, motor and social skills is often delayed and may be accompanied by intellectual disability.
• Physical Characteristics : Individuals may have distinctive facial features, small head circumference, and other physical characteristics.
• Behavioral problems : Some patients may exhibit attention deficits or autism-related behaviors.

3. Treatment

• Anemia Management : Management of α-thalassemia requires proper nutrition and possibly blood transfusions.
• Developmental Support : Developmental support is provided using physical therapy, speech therapy, and occupational therapy.
• Behavioral Support : Psychological therapy and behavioral support may be provided, if needed.

4. Prognosis

Depending on the severity of the symptoms and whether or not there are any complications, proper medical management and support can improve the quality of life.

5. The burden on parents

Since long-term treatment and medical support will be required, this can be a financial and psychological burden. It is important to work with support groups and medical institutions to receive support.