Al. Christianson et Jgr. Kromberg, MATERNAL NONRECOGNITION OF DOWN-SYNDROME IN BLACK SOUTH-AFRICAN INFANTS, Clinical genetics, 49(3), 1996, pp. 141-144
Down syndrome (DS), one of the commonest causes of mental retardation
in Caucasoids, has only rarely been described in Africa. In previous s
tudies it was suggested that there may be clinical difficulties in mak
ing the diagnosis in African neonates. In the present study data were
collected by means of a questionnaire administered partly before and p
artly after a genetic counselling session, to 35 mothers of African in
fants with DS. The results show that 83% of these mothers did not reco
gnise any facial difference between their affected infant and other no
rmal infants and 57% did not observe any other physical differences. A
fter counselling, 40% of the sample still did not accept that their in
fant was different from other newborns. Only one mother was aware of i
nfants with similar characteristics. These findings suggest that if mo
thers themselves cannot see the differences between their DS children
and normal children, clinical diagnosis based on physical stigmata may
be difficult. Furthermore, acceptance of the diagnosis may be retarde
d until delayed milestones can be observed in the affected infants.