Social adjustment

Quality of social relations, peer acceptance and presence and reciprocity of friendships.

Fluorescent In Situ Hybridization (FISH)

A technique that can be used to detect and localize the presence or absence of specific DNA sequences using fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity to the probe.

Molecular testing for Fragile X

Involves looking for an abnormal repeat in a particular gene on the X chromosome.

Metabolic studies

Involves looking for inherited metabolic disorders. Metabolic disorders are those that interfere with the body’s ability to perform the chemical reactions that are necessary for the maintenance life (for example the conversion of sugar into usable energy).

Cytogenetic studies

Involves primarily looking for structural changes in all the chromosomes (i.e. duplications, deletions and translocations).

Soto Syndrome

Sotos syndrome is characterized by unusually large head size, unusual facial features, and a markedly advanced bone age.

Periventricular leukomalacia

Caused by a lack of oxygen or blood flow to the brain, which results in damage to the periventricular area of the brain. This area is important because it contains nerve fibers that carry messages within the brain.

Palliative surgery

Multi-staged surgery.

Tandem

Standing on both feet at the same time, with one foot in front of the other (heel to toe).

Quality of life

An individual’s perception of their well-being and general satisfaction with life. This personal perspective about one’s life is influenced by past experiences, ambitions, expectations and cultural values.

Health-related quality of life

How an individual views their health and the extent to which they are satisfied with it.

Blood monocyte

A cell of the human immune system that protects against blood-borne pathogens.