DiGeorge Syndrome (22q11 deletion syndrome)
22q11 deletion syndrome (also known as DiGeorge syndrome) is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is estimated that between 5%-20% of individuals with 22q11 deletion syndrome have autism (Should there be concerns about 22q11 syndrome, the clinician will advise about a referral for genetic testing). 22q11 syndrome can affect multiple systems in the body and can lead to a wide range of symptoms and behaviours. The most common cause of 22q11 deletion syndrome is a spontaneous deletion that occurs during early foetal development. In some cases, the deletion is inherited from a parent who also carries the deletion. The specific genes that are missing in the deleted region of chromosome 22 are responsible for the characteristic features and symptoms of the condition.
The symptoms and behaviours associated with 22q11 deletion syndrome can vary widely among individuals. Some common features include:
- Facial features: Some individuals may have distinctive facial features, such as a small chin, cleft palate, hooded eyelids, or low-set ears.
- Congenital heart defects: Many individuals with 22q11 deletion syndrome are born with structural abnormalities of the heart (bluish skin sometimes occurs as a result of poor circulation of oxygen rich blood due to the heart issues).
- Immune system problems and other medical issues: People with this syndrome may have immune system dysfunction, leading to frequent infections.
- Learning difficulties: Individuals with 22q11 deletion syndrome may have intellectual disabilities or learning difficulties, ranging from mild to severe.
- Speech and language delay: Language development may be delayed, and individuals may have difficulties with speech articulation.
- Behavioural and motor issues: Some individuals with 22q11 deletion syndrome can experience behavioural and emotional conditions, such as ADHD, anxiety disorders, and/or comorbid ASD, and may also experience motor/co-ordination difficulties.
22q11 deletion syndrome is diagnosed using a genetic test called Fluorescent In Situ Hybridization (FISH). The treatment and intervention strategies for the condition are designed to address the specific needs and symptoms of each individual. The management of 22q11 syndrome often involves a multidisciplinary approach, with a team of healthcare professionals including paediatricians, geneticists, cardiologists, immunologists, and behavioural specialists. Treatment options may include surgical interventions to address heart defects or cleft palate, medications to manage immune system problems or psychiatric symptoms, and therapies such as speech therapy, occupational therapy, and physical therapy to address developmental delays. Early intervention programs, educational support, and counselling services can also play a crucial role in helping individuals with 22q11 syndrome reach their full potential and improve their quality of life.
Reference
Cortés-Martín, J., Peñuela, N.L., Sánchez-García, J.C., Montiel-Troya, M., Díaz-Rodríguez, L., & Rodríguez-Blanque, R. (2022). Deletion Syndrome 22q11.2: A Systematic Review. Children, 9, 1168. doi.org/10.3390/children9081168
