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KMID : 0918520120120020094
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Journal of the Korean Society of Inherited Metabolic Disease
2012 Volume.12 No. 2 p.94 ~ p.98
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Clinical and Biochemical Evaluation of Institutionalized Population with Mental Retardation or Developmental Delay
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Kim Sook-Za
Jeon Young-Mi
Song Woong-Ju
Kim Hak-Sung
Cho Hwa-Yeon
Kil Hong-Ryang
Kim Seung-Hwan
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Abstract
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Purpose: Developmental delay and mental retardation are frequently occurring disorders that present major socio-economic burden on the affected individual’s family and society. Both can be congenital or acquired. However, a large number of people are institutionalized without exact diagnosis and, as a result, have not received proper care.
Methods: 508 subjects with mental retardation or developmental delay from six institutions in Chung Buk Province were clinically evaluated and screened for metabolic and endocrinologic problems between 2000 and 2012.
Results: Clinical genetic disorders were observed in 52 (10.2%) subjects. Cerebral palsy attributed to 21% of the institutionalized. 18 (3.5%) were diagnosed with metabolic disorders and 13 (2.6%) exhibited secondary endocrinologic dysfunction. Over 16% showed metabolic evidence of malnutrition.
Conclusion: 21% and 3.5% of the population institutionalized due to mental retardation or developmental delay were afflicted by preventable cerebral palsy and metabolic disorders, respectively. Through early identification of the causes and early treatment, it may be possible to prevent, reduce, or alleviate the disability of many institutionalized individuals. Further research is imperative for establishing guidelines for diagnostic investigation for mental retardation.
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KEYWORD
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Mental retardation, Developmental delay, Inborn errors of metabolism, Tandem mass spectrometry
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