The prevalence of phenylketonuria among children with mental retardation in Kelantan
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Date
2001-11
Authors
Omar, Julia
Journal Title
Journal ISSN
Volume Title
Publisher
Universiti Sains Malaysia
Abstract
The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no
study has been conducted to address the subject. The objectives of this study were to
determine the prevalence of PKU among the mentally retarded children in Kelantan, to
determine the feasibility of carrying out a screening programme for PKU in newborns
and to establish a method for PKU screening should the need arise later on. The study
was a cross-sectional survey involving all the schools with special programmes for
mentally retarded children and community- and clinic-based rehabilitation centers
( CCRC) in Kelantan. All children listed and attended these two institutions were taken as
the study samples. A validated questionnaire was used to obtain personal and
socioeconomic information of the patients and their families. The questionnaire was
collected together with the written consent for the study before the final list of
respondents was recorded. Blood spots on filter papers were collected by a finger prick
method using automated disposable lancet. Validation of the information in the
questionnaire, physical examinations and blood spots collection were done at the
respective schools and CCRC. Phenylalanine assays were done using the Bacteria
Inhibition Assay (BIA), also known as the Guthrie method. The BIA method was optimized in local laboratory before it is used to test the study
samples. A total of 24 schools and 34 CCRC were visited during the study period all over
Kelantan. Out of 1715 respondents who returned the questionnaire and consented to take
part in the study, only 1568 agreed to have blood spots taken and were present during the
blood collections. Other then children with mental retardation, samples were also taken
from normal and "lembam and last classes (lembam and LC) children. Out of the 1319
school-based respondents, 239 (18.1%) were mentally retarded and 276 (20.9%) were
lembam and LC. All the 396 repondents from CCRC were mentally retarded children.
The proportion of boys was significantly higher in school-based mentally retarded,
Iembam and LC and CCRC respondents, but lower in the normal group. The majority of the respondents were malays, conforming to the population structure of Kelantan.
Household income was significantly lower in the lembam and LC and CCRC respondents
compared to the other two groups. Likewise, there was no significant difference in
income between the lembam and LC and CCRC respondents, and between the nonnal
and school-based mentally retarded respondents. The phenylalanine assays were negative
for the 1170 respondents who had their blood spots taken.
Although the result was negative, the study respondents constituted of only 5% of the
projected population with mental retardation, which were not captured by this study
because they did not attend any of the institutions visited. The laboratory technique used
was accurate and errors had been systematically addressed and prevented to ensure the
results were valid and reliable. Phenylketonuria, given the nature and outcome of the
disease, is a considerable problem to both the health and social sectors, and fits the
criteria to have a screening programme put in place. However, the negative result of this
study requires further investigations to be conducted in the near future to convince the
authority as to the need for such an expensive programme. This study should be extended
to include patients not covered here and also patients in other states. Perhaps, it will also
be beneficial to examine other methods of screening for PKU.
Description
Keywords
The prevalence of phenylketonuria (PKU)