Established medical conditions
genetic disorders
Fragile X
A chromosomal anomaly in which the end of the X chromosome is subject to break, hence the name fragile X. Females are usually the carriers and the syndrome occurs more often in males. Individuals with fragile X tend to have an unusual, elongated face, large ears, and a prominent jaw. Intellectual functioning typically falls within the moderately impaired range.
PKU (Phenylketonuria)
An inborn error of protein metabolism which is transmitted by autosomal recessive inheritance. The enzyme necessary for the breakdown of amino acid, phenylalanine, is not produced. Untreated, the amino acid accumulates and leads to severe brain damage. With early identification and treatment, the child may have normal intellectual functioning.
Prader-Willi Syndrome
This syndrome, due to problems with genes located on chromosome 15, appears to occur more frequently in males than females. It is characterized by short stature, generalized obesity, underdeveloped sex glands and occasional abnormal sugar metabolism with diabetes mellitus. Individuals with Prader-Willi Syndrome may also exhibit bizarre eating patterns. Intellectual functioning may fall within the mild to severely impaired range.
Trisomy 21
Commonly referred to as Down syndrome, this is a chromosomal anomaly in which there are three number 21 chromosomes instead of the normal pair. This results in the individual having forty-seven chromosomes instead of forty-six. Characteristics associated with Down syndrome my include short stature, slanted eyes, hypotonia and a single crease on the palm of the hand. Intellectual functioning typically falls within the mild to severely impaired range.
Tuberous Sclerosis
Believed to be inherited as an autosomal gene, tuberous sclerosis typically presents a classic triad consisting of seizures, mental retardation, and tumors in the skin glands (café au lait spots, acne like lesions). Depending upon the tumorous involvement of the central nervous system, the level of intellectual impairment may be severe with accompanying seizures seriously affecting the child's learning and behaviors.
Turner Syndrome
A chromosomal anomaly that occurs when one of the two X chromosomes normally found in women is missing or incomplete, resulting in faulty sexual development with subsequent failure of secondary sexual characteristics. Intellectual functioning is typically not affected; however, some individuals may exhibit mild to moderately impaired skills.
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