• Proceedings of the Zoological Society Korea Conference
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• 2001.10a
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• pp.234.2-234
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• 2001

No Abstract, See Full Text

• Physical Therapy Korea
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• v.9 no.4
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• pp.13-35
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• 2002

Lesch-Nyhan 증후근(LNS)은 hypoxanthine guanine phosphoribosyle transferase(HGPRT) 효소를 암호화 하는 X 염색체가 불완전해서 일어나는 유전적인 추제외로계(또는 기저핵)의 드문 병변이다. 출생시 LNS 유아는 정상적인 운동발달이 관찰되어진다. LNS에게서 현저하게 진단적인 특징으로 보여지는 운동심리적 행동인 self-mutilating 행위는 4살 이후에나 나타난다. LNS 아이들은 오히려 초기에 Rett's 증후근, 뇌성마비, 자폐, 다운증후근과 유사한 운동행위를 보인다. 그래서 LNS 아이들은 앞에 기술한 신경학적 장애로 오진을 받을 수가 있다. 오진으로 인해 초기에 적절한 치료를 받지 못한다면 LNS는 결과적으로 합병증(신장부전)과 self-mutilating 행위로 인하여 치명적일 수가 있다. 그러므로, 이 연구의 목적은 LNS 평가 동안 더 나은 진단을 하도록 하기 위하여 LNS와 관련된 기능부전에 대한 지식을 임상가들에게 제공하고자 함이었다. 연구 대상자는 10살인 2명의 쌍둥이 남아이었으며 실험은 뻗기 과제 수행(reaching task)시 움직임 특성을 보기 위하여 운동형상학적과 비디오 분석을 사용하였다. 기술통계로 분석 결과 움직임 시간과 단위가 증가됨을 보였고 사지의 분절적 움직임이 협응되지 않음을 보였다. ballistic과 jerky 움직임 양상은 dysmetric과 비긴장성 운동 행위에서 우세하였다. LNS은 추체로계 운동 장애 (과근긴장도나 저긴장도) 와 추체외로계의 운동 장애(dystonia와 choreoathetosis)의 혼합된 형태를 보였다. 결론으로 이 연구는 운동발달 장애를 가진 아이들을 치료하고자 할 때 임상가들한테 LNS 아이들의 움직임 장애의 다른 진단적 특징을 알아야 한다는 것을 제시하고자 한다.

• Clinical and Experimental Pediatrics
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• v.60 no.9
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

• Clinical and Experimental Pediatrics
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• v.54 no.1
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• pp.22-28
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• 2011

Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD), and the relationship between certain types of electroencephalography (EEG) abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS). Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259), age of epilepsy diagnosis (P=0.237), associated family history (P=0.074), and positive abnormal magnetic resonance image (MRI) findings (P=0.084). The severe EEG group tended to have more neuropsychological problems (P=0.074). The severe group statistically showed more electrographic seizures in EEG (P=0.000). Rett syndrome was correlated with more severe EEG abnormalities (P=0.002). Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent's questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.