Clinical and Biochemical Evaluation of Institutionalized Population with Mental Retardation or Developmental Delay

정신지체 및 발달지연으로 수용된 인구의 임상, 내분비 및 대사 질환 평가

  • Kim, Sook-Za (Korea Genetics Research Center/Kim Sook-Za Pediatrics Clinic) ;
  • Jeon, Young-Mi (Korea Genetics Research Center/Kim Sook-Za Pediatrics Clinic) ;
  • Song, Woong-Ju (Korea Genetics Research Center/Kim Sook-Za Pediatrics Clinic) ;
  • Kim, Hak-Sung (Korea Genetics Research Center/Kim Sook-Za Pediatrics Clinic) ;
  • Cho, Hwa-Yeon (Department of Pediatrics, Chungnam National University College of Medicine) ;
  • Kil, Hong-Ryang (Department of Pediatrics, Chungnam National University College of Medicine) ;
  • Kim, Seung-Hwan (Kyung Hee University)
  • 김숙자 (한국유전학연구소/김숙자소아청소년병원) ;
  • 전영미 (한국유전학연구소/김숙자소아청소년병원) ;
  • 송웅주 (한국유전학연구소/김숙자소아청소년병원) ;
  • 김학성 (한국유전학연구소/김숙자소아청소년병원) ;
  • 조화연 (충남대학교 의과대학 소아청소년과) ;
  • 길홍량 (충남대학교 의과대학 소아청소년과) ;
  • 김승환 (경희대학교)
  • Published : 2012.12.31

Abstract

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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