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Key takeaways
- Down syndrome is a genetic cause of intellectual disability associated with extra chromosome 21 material.
- Physical features alone cannot establish the diagnosis, which requires chromosome testing.
- Intellectual functioning, adaptive abilities, and support needs vary substantially among people with Down syndrome.
Genetic Causes of Intellectual Disabilities
Many intellectual disabilities (ID, formerly mental retardation) are caused by genetic abnormalities. The two most common genetic causes of intellectual disabilities are Down syndrome and Fragile X syndrome.
Down syndrome (or Down's syndrome in the UK)
Down syndrome is the most common genetic origin of intellectual disabilities (ID, formerly mental retardation). Down syndrome occurs in 1 out of every 800 births. Down syndrome derives its name from John Langdon Down. He was the one who first pinpointed the disorder. The condition caused by an extra chromosome. An error in cell division during prenatal growth results in an extra third chromosome 21. The extra chromosome is called Trisomy 21.
Down syndrome has a unique pattern of symptoms. These symptoms lead to the identification intellectual disabilities. The total brain volume is generally smaller than average. The shape of the brain is also different.
Doctors quickly recognize the physical features of Down syndrome at birth. The child's eyes usually have an upward slant. They are also white spots on the iris called Brush field spots. The child's ears have an unusual shape. The neck is shorter than usual. The shape of the face is full. The profile of the face tends to be flat. The palm of the hand may have a profound crease running crossways. A person who has Down syndrome may not have all of these physical features. Moreover, these traits are also found in children without the disorder. Therefore, physical features alone are insufficient for diagnosis.
The definitive diagnosis of Down syndrome requires a blood test. Blood tests reveal the abnormal Trisomy 21. The procedure is called a chromosomal karyotype. The procedure takes about two weeks. During this time, blood cells are grown. Then, they are sorted and tested for the extra chromosome.
People with Down syndrome have shorter lives than the general population. The average life expectancy is about 55 years. This relatively short life span is 20 years longer than it was two decades ago. The syndrome is not associated with a particular race. Nor is it limited to certain socioeconomic groups. The risk for Down syndrome increases with the mother's age.
Down syndrome causes a variety of deficits in intellectual and adaptive functioning. Each person with Down syndrome is unique. Some function quite well with good social skills. Others have significant challenges. The Down syndrome population is reputed to have friendly and loving temperaments. They often express affection openly. Many people find their loving and sweet natures endearing. However, these same characteristics make them vulnerable to victimization.
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