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Down syndrome: Treatment, symptoms, advice and help

About down syndrome

Down syndrome is a genetic disorder characterised by physical and mental abnormalities in the individual. This genetic disorder occurs either due to deletion or addition of chromosomal material. Down syndrome results from extra material in the chromosome number 21. Down syndrome like any other genetic disorder, is an incurable disease which may be managed by extensive supportive care.

Down syndrome: Incidence, age and sex

Down syndrome is one of the most common genetic diseases and is present since birth. It is slightly more common among males as compared with females.

Signs and symptoms of down syndrome: Diagnosis

The clinical spectrum of down syndrome is quite variable and may range from mild to severe. The physical abnormalities of face are typical and constitute small ears, mouth and nose, eyes with upward slant, flattened nose bridge and protruded, furry tongue. The hands of individuals with down syndrome are characteristically short and stubby with webbed fingers and single transverse crease on palm. The muscle tone is characteristically poor which can be easily diagnosed during the first few months by increased floppiness in the baby. The developmental milestones including speech and motor skills are delayed.

The individuals with down syndrome exhibit mental abnormality which may range from low IQ to learning disabilities to severe mental retardation. Other organs like heart, eyes, ears and thyroid gland may also be affected in some individuals resulting in congenital heart defects, impaired vision and defective hearing.

Several investigations like amniocentesis and chorionic villus sampling are done during pregnancy to diagnose such genetic disorders. Down syndrome can be suspected at birth by typical physical aberrations. Later on, other features including short stature and learning disabilities may help in establishing the diagnosis.

Causes and prevention of down syndrome

Down syndrome is a disorder resulting from extra copy of chromosome number 21. The main risk factor for down syndrome is increasing maternal age. It is especially seen in babies born to women more than 35 years of age at the time of conception.

Down syndrome: Complications

Down syndrome results not only in health-related complications but also personal and social implications. Individuals with down syndrome have increased risk of leukaemia, Alzheimer’s, epilepsy, digestive diseases like reflux disease or coeliac disease, heart defects like ventricular septal defect. These complications are serious and potentially fatal. Moreover the individual may not be able to take self-care which may result in frequent infections and rapid deterioration of health.

Down syndrome: Treatment

Unfortunately, down syndrome has no cure. A multidimensional approach may be required to manage various problems of this genetic syndrome. A speech therapist helps in improvement of speech. Schools imparting special education and vocational training are needed in individuals with mild mental retardation or learning disabilities. Excellent supportive care is an essential part of management of affected individuals. The survival rate depends upon the mental and physical capabilities of the affected individual. The average life expectancy of a patient with down syndrome is around 55 years.