Know More about Down Syndrome

Written By: Dr. Magdy Badran, a Consultant Ped Immunology

CAIRO, Nov. 2 (SEE) - Down syndrome (DS) is the most common chromosomal condition, occurring with a rate one in every 700 live births.

DS occurs when an inpidual has an extra copy of chromosome 21, this additional genetic material alters the course of development and causes the characteristics associated with DS. The incidence of births of children with DS increases with the age of the mother.

People with DS have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease and thyroid conditions. Many of these conditions are now treatable, so most people with DS lead healthy lives.

DS is the most common recognizable genetic syndrome associated with immune defects. Deficiencies in cellular immunity may result in increased viral infections.

Deficiencies in humoral immunity may result in increased bacterial infections. DS children might have chronic rhinitis and reactive airway disease, and hypersensitivity to inhaled allergens. Children with DS have an imbalance of antioxidants and free radicals.

Two particular autoimmune diseases are more common in DS; autoimmune thyroid disease and celiac disease. Children and adults with DS should be screened regularly for thyroid function.

Celiac disease is an immunologically mediated intolerance to a wheat protein called gluten. This generates an autoimmune disease which damages the absorptive surfaces of the intestine causing the loss of villi leading to malabsorption of nutrients which can result in weight loss, lethargy and anemia.

Airway obstruction is extremely common in DS, due to mid-face hypoplasia, tongue enlargement, and mandibular hypoplasia. The small upper airway, combined with relatively large tonsils and adenoids, contributes to airway obstruction and increase susceptibility to infections. Up to 80% of children with DS experience hearing loss, leading to difficulties in speech and language development.

Skin troubles are common in DS children due to the immunologic dysfunction, with a higher incidence of cutaneous infections and atopic dermatitis.

The combination of DS and autism was considered rare until quite recently.

Now, several publications suggest that about 1 in 20 children with DS might have autism, a 25 times higher chance than in the general population.

Life expectancy for people with DS has increased dramatically in recent decades - from 25 in 1983 to 60 today. Early (shortly after birth) intervention and educational therapy are very essential for children with DS.

DS needs special educators, speech therapists, occupational therapists, physical therapists, and social workers. Emotional and behavioral therapies can help a child deal with emotions and build coping and interpersonal skills.

The DS future is promising, as multiple recent successful studies are ongoing , exploring the impact of congenital heart defects on DS, ways to improve communication between parents and children with DS, choline supplementation during pregnancy with lasting effects on memory and cognition, ways to predict airway obstruction and turning off the extra chromosome that causes DS.