DOWN SYNDROME What it is Down syndrome or trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra

a 21st chromosome. Down syndrome is named after John Langdon Down, the British doctor who first described the condition in 1887. It wasnt until 1959, however, that an extra chromosome was identified as the cause. What causes it Trisomy 21 is caused by a meiotic nondisjunction event.Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. No one knows for sure why DS occurs and there's no way to prevent the chromosomal error that causes it . Epidemiology The incidence of Down syndrome is estimated at 1/700 to 1/1000 and the sex repartition is 3/2 for male sex. Down syndrome occurs in all ethnic groups and among all economic classes. Maternal age influences the chances of conceiving a baby with Down syndrome Phenotype Short stature Mongoloid foldMuscle hypotoniaFlat nasal bridgeSingle palmar foldProtruding tongueMacroglossia,microgeniaShort,thick neckWhite spots on the iris known as Brushfield spots Fine motor skills are delayed Speech delay,mental retardation Complications

Congenital heart disease ( The incidence of chd in children with Down is 50%. Ex: atrioventricular septal defect ); Thyroid disorders (hypothyroidism is most common, occurring in 1/3 cases of DS); Gastrointestinal (Ex:duodenal atresia, annular pancreas, and imperforate anus ); Neurology (Increased risk for developing epilepsy ); Ophthalmology and otolaryngology (Ex:strabismus, cataracts, glaucoma, Brushfield spots); Screening and diagnosis Two types of prenatal tests are used to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has DS; diagnostic tests can tell whether the fetus actually has the condition. Screening tests are cost-effective and easy to perform, but they can't give a definitive answer. Diagnostic tests are about 99% accurate in detecting Down syndrome and other chromosomal abnormalities. However, because they're performed inside the uterus, they are associated with a risk of miscarriage and other complications. Down syndrome management Individuals with Down syndrome should be fully included in family and community life. It is very important to stimulate, encourage, and educate children with Down syndrome from infancy. Programs for young children with special needs are offered in many communities. Early intervention programs, including physical therapy, occupational therapy, and speech therapy can be very helpful. Individuals with Down syndrome live longer than ever before. Due to full inclusion in society, many adults with Down syndrome now live semi-independently, enjoy relationships, work, and contribute to their community.