Syndromes Project

Module Seven Activity

Many chromosomal and genetic abnormalities cause moderate to severe disabilities in children and often lead to low-incidence disabilities and multiple handicaps. Many of these disorders are not very common but these kids are very real. Please do a bit of research on the following chromosomal, metabolic, and genetic conditions to understand a bit more about some of the causes of low-incidence disabilities.

For each disability, please describe each condition, what causes it, and what effect it has on the child that may be affected. Also, please include the website where you found your information (make sure to cite!). The first and most common one is done for you.

Down syndrome

Down syndrome is caused by abnormal cell division in early fetal development. It is not known what causes the cells to divide abnormally. Genes grouped together make up chromosomes. Normally, a child inherits 46 chromosomes, 23 from each parent. The abnormal cell division related to Down syndrome produces extra genetic material, usually an extra chromosome.

Many of the challenges are related to cognitive disability (mental retardation) and health problems. People with Down syndrome are prone to certain diseases or conditions, such as hypothyroidism, or other health problems, such as hearing loss or respiratory infections. The cognitive deficits can range from mild to severe.

Children with Down syndrome usually can do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. However, they generally start learning these things later than other children and, as adults, will generally need assistance in the area of independent living.

http://health.yahoo.com/ency/healthwise/hw167776

Please do the same for the following disorders:

Angelman Syndrome

PKU

Fragile X Syndrome

Apert Syndrome

Cornelia de Lange Syndrome

CHARGE Syndrome