Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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언어 발달지연 환아에서 진단적 검사의 유용성

The usefulness of diagnostic tests in children with language delay

  • 오승택 (영남대학교 의과대학 소아과학교실) ;
  • 이은실 (영남대학교 의과대학 소아과학교실) ;
  • 문한구 (영남대학교 의과대학 소아과학교실)
  • Oh, Seung Taek (Department of Pediatrics, College of Medicine, Yeungnam University) ;
  • Lee, Eun Sil (Department of Pediatrics, College of Medicine, Yeungnam University) ;
  • Moon, Han Ku (Department of Pediatrics, College of Medicine, Yeungnam University)
  • 투고 : 2008.06.24
  • 심사 : 2008.11.04
  • 발행 : 2009.03.15
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초록

목 적 : 언어 발달 지연아들에게 흔히 시행되는 검사들로서 뇌 자기공명 영상, 염색체 핵형분석, 뇌 전위 유발검사, 뇌파, Tandem mass 선별검사 및 6종 선천성 대사질환 선별검사가 원인 질환의 진단에 유용한 지를 알아보고자 본 연구를 시행하였다. 방 법 : 2000년 1월부터 2007년 6월까지 언어 발달 지연을 주소로 영남대학교 부속병원 소아신경클리닉에서 신경심리검사와 원인 질환에 대한 검사를 받았던 122명의 환아를 대상으로 의무 기록을 검토하여 증례별로 현상학적 질환의 범주로 나누고 원인/연관 추정 소견 여부를 확인한 후 검사의 양성률과 원인 질환의 진단에서의 유용성을 분석하는 후향적 연구를 시행하였다. 결 과 : 대상 환아 122예에서 정신지체 47예(38.5%), 발달성 언어장애 40예(32.8%), 경계선 지능이 23예(18.9%) 그리고 자폐 범주 질환이 12예(9.8%)였다. 원인/연관 추정 소견은 26예(21.3 %)에서 찾을 수 있었으며 이형 증후군이 5예, 소두증이 4예, 미숙아 분만 및 신생아 가사의 병력을 가진 경우가 3예, 저출생 체중아가 3예, 양육된 환경적인 요인이 문제였던 경우가 3예 등의 순으로 많았다. 검사 소견으로 자기공명 영상 77예 중 8예(10.4%), 뇌파 75예 중 6예(8.0%)에서 이상 소견이 관찰되었고 뇌 전위 유발검사 80예 중 양측 이상을 보인 경우가 4예(5%)있었으나 2예에서는 추적 관찰시 정상화되었다. 염색체 핵형분석 80예, Tandem mass 선별검사 67예와 대사질환에 대한 신생아 선별검사 15예에서 이상 소견이 관찰된 경우는 없었다. 검사 소견 중 뇌 자기공명 영상은 대뇌 겉질 형성 이상 1예의 확진과 뇌량 형성 부전 3예와 뇌연화증 1예의 원인 질환 추정에, 그리고 뇌 전위 유발검사는 청각 장애 2예의 확진에 도움이 되었다. 결 론 : 언어 발달 지연의 원인 질환의 진단 시 흔히 시행되는 검사들은 유용성이 크지 않으며 검사의 시행은 증례의 특징에 따라 선별적으로 시행하는 것이 바람직하다. 그러나 원인 질환의 진단에는 도움이 되지 않는다고 하더라도 검사에서 이상 소견이 관찰되는 경우가 적지 않으므로 언어 발달 지연의 전체적인 평가에는 이들 검사의 의미에 대해서는 좀 더 연구가 필요하다.

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

키워드

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피인용 문헌

  1. The Value of Electroencephalogram in Assessing Children With Speech and Language Impairments vol.62, pp.1, 2019, https://doi.org/10.1044/2018_jslhr-l-17-0087