Biomaterial Database

Down syndrome in black South African infants and children--clinical features and delayed diagnosis. 1997

A L Christianson

Department of Human Genetics and Developmental Biology, University of Pretoria.

OBJECTIVE Down syndrome (DS), the commonest cause of congenital developmental disability in developed countries, has only recently been shown to have an incidence in black South African neonates as high, and in some studies higher, than currently seen in First-World nations. It has also been reported that the mothers of black African DS newborns and medical and nursing staff have difficulty recognising and diagnosing DS in black neonates. The aims of this study were to document the clinical features of black DS infants and children, compare these to the features of previously documented DS infants and children from other ethnic groups, and finally to ascertain if and for how long the difficulties recorded in diagnosing DS in blacks extended into infancy or childhood. METHODS This was a prospective, genetic clinic-based study, entailing clinical evaluation of black DS infants and children 3 months of age and older, and the administration of a questionnaire to the mothers of these patients. METHODS Genetics clinics at Kalafong and Ga-Rankuwa hospitals, Pretoria, and at Mankweng, Siloam, Groothoek, Nkhensani and Elim hospitals in the Northern Province. RESULTS Fifty-five DS infants and children were assessed. Their clinical features were comparable to those of children from other ethnic groups. Congenital heart disease (CHD) was recorded in a significantly higher percentage of infants under 12 months of age (51.9%) than children 13 months of age or older (25%). Only 9 (16.4%) of these DS patients were clinically diagnosed in the neonatal period, and a further 18 (32.7%) at between 1 and 6 months of age. More than half (28 or 50.9%) were 7 months of age or older when initially clinically diagnosed. Maternal self-initiated awareness of a problem with their infant or child preceded clinical diagnosis in 32 (58.2%) patients. CONCLUSIONS The difficulties experienced by medical and nursing staff in diagnosing DS in black neonates extends into infancy and childhood, despite the fact that the clinical features of black DS infants and children do not differ from those seen in DS patients in other ethnic groups. The prevalences of CHD in black DS infants and children suggest that CHD is a significant cause of mortality in black DS patients.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007722	Health Knowledge, Attitudes, Practice	Knowledge, attitudes, and associated behaviors which pertain to health-related topics such as PATHOLOGIC PROCESSES or diseases, their prevention, and treatment. This term refers to non-health workers and health workers (HEALTH PERSONNEL).	Knowledge, Attitudes, Practice
D008297	Male		Males
D011446	Prospective Studies	Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.	Prospective Study,Studies, Prospective,Study, Prospective
D011795	Surveys and Questionnaires	Collections of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions.	Community Survey,Nonrespondent,Questionnaire,Questionnaires,Respondent,Survey,Survey Method,Survey Methods,Surveys,Baseline Survey,Community Surveys,Methodology, Survey,Nonrespondents,Questionnaire Design,Randomized Response Technique,Repeated Rounds of Survey,Respondents,Survey Methodology,Baseline Surveys,Design, Questionnaire,Designs, Questionnaire,Methods, Survey,Questionnaire Designs,Questionnaires and Surveys,Randomized Response Techniques,Response Technique, Randomized,Response Techniques, Randomized,Survey, Baseline,Survey, Community,Surveys, Baseline,Surveys, Community,Techniques, Randomized Response
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003327	Coronary Disease	An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.	Coronary Heart Disease,Coronary Diseases,Coronary Heart Diseases,Disease, Coronary,Disease, Coronary Heart,Diseases, Coronary,Diseases, Coronary Heart,Heart Disease, Coronary,Heart Diseases, Coronary
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females