Abstract

John Langdon Down (1866) first described the clinical entity of Down Syndrome (DS) at mid-nineteenth century and one century later, the DS primary cause due to trisomy 21 was reported (Lejeune et al., 1959). Until now, the etiology of Down syndrome remains unknown. DS is predominantly due to non-disjunction of chromosome 21; while translocation of an extra copy of the same chromosome accounted for a small proportion of the condition. A mosaic vary of the situation comes about when the extra chromosome 21 is present in some, but not all, cells of the affect individual. DS itself is not a disease, however affected individuals have greater risk in acquiring many systemic conditions. Persons with DS are susceptible to upper respiratory tract and chest infections. Approximately 50% have some forms of heart defect, usually ventricular septal defect, some may require antibiotic cover for invasive dental treatment. Alzheimer disease is a problem in later life of DS individuals. Down syndrome is characterized by central growth deficiency with delayed mental and physical development. All individuals with DS are mentally impaired to some degree, ranging from mild to severe. There is a unique combination of facial features in DS subjects, regardless of race or ethnicity. Persons with DS are often short with a short neck and underdeveloped or hypoplastic mid-face, with outer canthus of the eye higher than the inner giving rise to slant-eyes appearance. The palpebral fissure is narrow, and there is often a medial epicanthic fold. There may be speckling of the iris (Brushfield’s spots), cataracts, eye infections and bior uni-lateral strabismus. The mid-face hypoplasia often associates with poorly developed paranasal air sinuses, giving rise to a sloping forehead and a flat face. Class III malocclusion and relatively prognathic mandible are also common observations. DS is the commonest chromosomal abnormality in live-born infants (Bower et al., 2000). DS has been estimated to occur in approximately 1 in 732 infants in the United States (Sherman et al., 2007). In the United Kingdom, the overall prevalence of DS is 1.08 per 1000 live births from 1985-2004 and one-year survival of live births with DS increased, especially in babies with cardiovascular malformations, reaching almost 100% (Irving et al., 2008). Long-term survival is also improving, and the large majority of people with DS are now expected to live well into adult life, due to better living conditions, better health care and more sophisticated surgical techniques (Glasson et al. 2002). Health care workers, educationists and whoever involved are therefore required to keep up with the current knowledge and development of contemporary DS management strategies.

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