Down Syndrome

Down syndrome (DS) is a complex disorder characterized by well-defined and distinctive phenotypic features. Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).

Treatment: Early intervention for infants and children with Down syndrome can make a major difference in realizing their potential abilities and in their quality of life. Early intervention programs Ask your health care provider about early intervention programs in your area. Available in most states, these special programs offer children with Down syndrome stimulation at an early age with appropriate sensory, motor and cognitive activities. Programs may vary, but they usually involve therapists and special educators whose goal is to help your baby develop motor skills, language, social skills and self-help skills.

Statistics: Data from the Registry of Congenital Defects were analyzed, including births and induced abortions, between 1990 and 2004.Out of a total 103 452 births, 356 chromosomal anomalies had been registered (176 births and 180 induced abortions) and there were 210 DS (119 live births, two stillbirths and 89 induced abortions). Total prevalence assessment showed an important upward trend over time in both cases. The prevalence of total chromosomal abnormalities increased from 22 cases per 10 000 births in 1990 to 48,6 in 2004 and the DS prevalence increased from 13 to 29,1. Furthermore, 63% of DS births presented one or more associated defects, cardiac and digestive tract defects being the most frequent. Changes in maternal age and prenatal screening have influenced DS prevalence and trends.