by Kimberly Allen, RN
DiGeorge syndrome is considered a primary immunodeficiency disease. DiGeorge syndrome effects both boys and girls as well as all races and ethnic groups equally. DiGeorge syndrome is believed to affect approximately 1 in 3,000 live births. However, many experts believe that figure to be low because it is based on the major birth defects associated with the disease but there are some people that are born with very mild DiGeorge syndrome with few symptoms that are usually not formerly diagnosed as having DiGeorge syndrome.
DiGeorge syndrome occurs because a piece of chromosome 22 is missing. The missing section is known as 22q11.2, for this reason DiGeorge syndrome is sometimes referred to as 22q11.2 deficiency syndrome. Chromosome 22 is composed of approximately 500 to 800 different genes. The segment of chromosome 22 that is missing in DiGeorge syndrome would contain approximately 30 to 40 genes. Most of them have yet to be identified. They are also not clearly understood. Because the deletion or mutation occurs in either all or almost all of the cells in the fetus as it develops.
There are several birth defects associated with DiGeorge syndrome. Approximately 80% of children with DiGeorge syndrome have cardiac defects. The most common cardiac defects found with DiGeorge found in this syndrome including Tetralogy of Fallot, interrupted aortic arch, and truncus arteriosis, which are usually diagnosed in infancy. However, they may also have defects that show up later, usually after the child is 2 years of age, like ventricular septal defect, pulmonary stenosis and atrial septal defect as well as others. Many children born with DiGeorge syndrome are also born with cleft lip and/or cleft palate as well as other minor differences in facial features. Most children born with DiGeorge syndrome also have some degree of immune system malfunction which usually results in multiple and repeat infections. The main reason for the problems with the immune system is that the thymus gland is either missing or not fully developed in DiGeorge syndrome. Some, but not all children with DiGeorge syndrome also suffer from under active parathyroid gland also known as hypoparathyroidism which causes calcium levels to be low. Low calcium levels can lead to seizures. Approximately 40% of children born with DiGeorge syndrome experience hearing loss and/or abnormal hearing exams as well as microcephaly or a small head. Developmental delays as well as learning problems are seen in as much as 90% of children diagnosed. DiGeorge syndrome has also been associated with a variety of behavioral abnormalities like ADHD and autism spectrum disorders.
The symptoms of DiGeorge syndrome can vary greatly from child to child depending on which body systems are affected and the severity of the defects. Many symptoms are noticeable at birth like cleft lip and/or cleft palate, while others like symptoms related to cardiac defects manifest shortly after birth. There are still other symptoms that may not appear until early childhood.
There is no cure for DiGeorge syndrome. Treatment focuses on repair of structural defects particularly any cardiac defects. Depending on the level of function of both the thymus and parathyroid glands other treatments will include calcium and vitamin D supplements and prevention of infections. As your child grows and recovers from the surgical repairs needed your doctor may also recommend other therapies like speech and occupational therapy to help improve their verbal skills and learn everyday skills. Developmental therapy can help your child learn age appropriate behaviors as well as interpersonal and social skills. There are numerous early intervention programs that provide these services available in the US. Your local state health department can provide information on the programs in your state.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.