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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.

anomalies or syndromes of unknown etiology

Hydrocephalus (Congenital Hydrocephalus)
A congenital abnormality resulting in an increase of spinal fluid in the brain manifested by an enlargement of the head. Consequent brain damage will depend on the location, the amount of obstruction, extent of damage resulting from intracranial pressure and the success of the treatment.

Hypothyroidism
May be referred to as congenital hypothyroidism, cretinism, or thyroid dysgenics. This disorder results in a defect in the development of the thyroid gland in which there is a lack or an insufficient amount of thyroid hormone produced. Untreated, it may result in intellectual impairment and physical abnormalities.

Spina Bifida
The incomplete formation of the spinal column due to the defective cell migration. Instead of the primitive neural plate closing to form a tube, the cell migration is incomplete and the neural tube remains open. The spinal nerves cannot grow beyond this point and nerve connections needed for walking, bowel and bladder control may be disrupted.

congenital infections, neonatal infections, post natal infections

Bacterial Meningitis
A bacterial infection that attacks the meninges (the three layers that cover the brain and spinal cord).

Cytomegalovirus (CMV)
Caused by a viral infection acquired by the mother during pregnancy, especially during the first trimester. The most common manifestations are hearing loss and intellectual impairment.

Human Immunodeficiency Virus (HIV)
A virus that causes an increased response to infections.

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