• 대한통합의학회지
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• 제9권4호
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• pp.29-38
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• 2021

Purpose : Therapeutic exercise should improve the health outcomes of rehabilitation in children with neurodevelopmental disability. The purpose of this study was to investigate the feasibility of primitive reflex integration exercises on forward head posture, balance ability, and concentration in children with neurodevelopmental disability. Methods : This study included 10 children with neurodevelopmental disability. Primitive reflex integration exercises were performed for 40 minutes, twice a week for 8 weeks (16 sessions). The reflective markers were placed at the center of the shoulders and on the ears. A caliper was used to measure the distance between the attachments of the reflective markers to assess the forward head posture. Pediatric balance scale was used to quantify balance ability. Their abilities in terms of changeless sitting, looking at the teacher, putting children's hands on their knees, and looking at immovable and movable objects, were assessed to quantify concentration. Results : There were significant improvements in forward head posture after the intervention (p=.005). Primitive reflex integration exercises significantly improved balance ability of children with neurodevelopmental disability (p=.027). There were also significant improvements in changeless sitting (p=.005), looking at the teacher (p=.004), putting children's hands on their knees (p=.005), and looking at the immovable (p=.004) and movable (p=.004) objects. Conclusion : This study showed that primitive reflex integration exercises were a useful intervention to improve forward head posture, balance, and concentration in children with neurodevelopmental disability. Therefore, primitive reflex integration exercises may also promote and improve their general development. Further studies with appropriate sample size and control group are needed to conclude the effectiveness of primitive reflex integration exercises on improving posture, motor function, and concentration in children with neurodevelopmental disability.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제9권1호
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• pp.58-64
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• 2006

목 적: 뇌성마비 등 뇌병변장애환자는 여러 가지 원인으로 영양장애와 성장장애가 오나 사지마비와 사지구축 자세이상 등으로 성장상태를 정확하게 측정하기도 어렵고 열량대사가 정상인과 달라서 영양 요구량을 아는 것이 쉽지 않다. 저자들은 경관 영양을 하는 중증 사지마비성 뇌병변장애환자의 영양상태와 열량섭취량을 알아보고자 하였다. 방 법: 2004년 1월에 본 서울시립아동병원에 입원하고 있는 환자 중에 2세 이상 30세 사이의 경관 영양을 하는 중증 사지마비성 뇌병변장애환자 86명을 대상으로 하여 신장, 체중, 상완둘레, 피부주름두께를 재고 섭취 에너지 열량을 계산하여 신장 및 체중에 대한 단위 섭취 열량을 측정하였다. 결 과: 1) 체중은 나이와 연령에 따른 평균의 46.5%이고, 신장은 84.2%, 상완둘레는 74.5%, 피부주름두께는 44.6%였다. 2) 열량섭취량은 한국인의 1일 열량권장량의 평균 45.2%를 섭취하고 있었으며 Mayo clinic nomogram에 맞추어는 평균 69.4%였다. 3) 단위 신장당 평균 7.2cal/cm, 단위 체중당 평균 57.0cal/kg을 섭취하고 있었다. 신장과 섭취열량과의 관계가 (Fig. 1, r=0.476) 체중에 따른 섭취 열량과의 관계(r=0.263)보다 상관계수가 높았다. 결 론: 중증뇌병변장애환자는 여러 가지 원인으로 성장장애가 와 있으며 경관 영양 하루 열량이 평균 $880.9{\pm}207.4kcal$, 즉 한국인 1일 열량권장량의 45.2%를 섭취하고 있었다. 하루 500kcal에서 1,100kcal, 즉 일일열량권장량의 16~50%라도 충분하다는 보고도 있지만 개개인에서 체중변화와 열량섭취를 충분한 시간을 가지고 주의 깊게 살펴서 열량 조절을 하는 방법을 적용해야 하며 이들의 열량 요구량에 대한 연구가 더욱 필요할 것으로 생각된다.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• Clinical and Experimental Pediatrics
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• 제64권7호
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• pp.313-321
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• 2021

Here we describe the neurodevelopmental outcomes of very low birth weight (VLBW) infants (birth weight ≤1,500 g) at 3 years of age in the Neonatal Research Network of Japan (NRNJ) database in the past decade and review the methodological issues identified in follow-up studies. The follow-up protocol for children at 3 years of chronological age in the NRNJ consists of physical and comprehensive neurodevelopmental assessments in each participating center. Neurodevelopmental impairment (NDI)-moderate to severe neurological disability-is defined as cerebral palsy (CP) with a Gross Motor Function Classification System score ≥2, visual impairment such as uni- or bilateral blindness, hearing impairment requiring hearing amplification, or cognitive impairment with a developmental quotient (DQ) of Kyoto Scale of Psychological Development score <70 or judgment as delayed by pediatricians. We used death or NDI as an unfavorable outcome in all study subjects and NDI in survivors using number of assessed infants as the denominator. Follow-up data were collected from 49% of survivors in the database. Infants with follow-up data had lower birth weights and were of younger gestational age than those without follow-up data. Mortality rates of 40,728 VLBW infants born between 2003 and 2012 were 8.2% before discharge and 0.7% after discharge. The impairment rates in the assessed infants were 7.1% for CP, 1.8% for blindness, 0.9% for hearing impairment, 15.9% for a DQ <70, and 19.1% for NDI. The mortality or NDI rate in all study subjects, including infants without follow-up data, was 17.4%, while that in the subjects with outcome data was 32.5%. The NRNJ follow-up study results suggested that children born with a VLBW remained at high risk of NDI in early childhood. It is important to establish a network follow-up protocol and complete assessments with fewer dropouts to enable clarification of the outcomes of registered infants.

• Clinical and Experimental Pediatrics
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• 제50권11호
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• pp.1067-1071
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• 2007

목 적 : 초극소저출생체중아의 생존율 향상에 따라 장기 신경발달 장애가 감소했는지 여부와 이들의 장기 신경발달의 예후 인자에 대해 알아보고자 하였다. 방 법 : 1994년 11월부터 2004년 7월까지 삼성서울병원 신생아중환자실에서 입원 치료 받은 초극소저출생체중아 중 교정나이 18개월에 외래에서 추적관찰이 가능하였던 134명을 대상으로 하였으며 외래 방문 시 진찰소견과 의무기록을 후향적으로 분석하였다. 대상 환아를 1994년 11월부터 1999년 12월까지인 제 I기와 2000년 1월부터 2004년 7월까지인 제 II기로 나누었으며 각각 36명과 98명이 해당되었다. 결 과 : 제 I기에 비하여 제 II기에 재태연령과 출생체중이 낮았지만 생존율은 향상되었으며(제 I기: 60.0%, 제 II기: 74.7%) 뇌성마비는 감소하였고(제 I기: 22.2%, 제 II기: 8.2%) 따라잡기 성장은 향상되었다(제 I기: 25.0%, 제 II기: 51.0%). 뇌실주위 백질연화증, 패혈증과 기관지폐 이형성증의 이환율은 제 II기에 감소하였다. 뇌성마비의 가장 큰 위험요인은 3도 이상의 고도 뇌실내출혈, 따라잡기 성장의 실패와 뇌실주위 백질연화증이었다. 결 론 : 초극소저출생체중아의 생존율 향상은 장기적인 예후의 향상과 관련되어 있으며 신생아 관리의 질향상과 관련된 뇌실주위 백질연화증의 감소, 고도 뇌실내출혈의 감소, 더 나은 영양공급이 장기적인 예후의 향상과 관련된 것으로 보인다.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.27-30
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• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• 한국발생생물학회지:발생과생식
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• 제16권3호
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• pp.169-175
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• 2012

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability and autism. The genetic cause is the absence of UBE3A, an E3 ubiquitin ligase, from the maternal chromosome which can arise from multiple origins. Recently discovered targets of Ube3a are important for activity dependent changes in synaptic transmission and spine morphology. Plasticity studies in an AS mouse model is important for basic plasticity research with regard to understanding protein homeostasis as well as the search for therapeutic targets for the patients. The progress on synaptic plasticity from this unique disorder is reviewed.

• 대한장애인치과학회지
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• 제11권1호
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• pp.17-20
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• 2015

Autism is a life-long neurodevelopmental disorder characterized by qualitative abnormalities in reciprocal social interactions and patterns of communication. Patients with autism are difficult to manage during dental treatment. Thus they need special consideration like physical restraint, conscious sedation or general anesthesia. A 5-year-old male dental patient with autism was reffered to dental treatment under conscious sedation using intramuscular midazolam that creats anterograde amnesia. Dental procedure using midazolm which cause anterograde amnesia can be effective treatment strategy in autism patient.

• Journal of Korean Neurosurgical Society
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• 제66권3호
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• pp.258-262
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• 2023

Germinal matrix-intraventricular hemorrhage (GM-IVH) is among the devastating neurological complications with mortality and neurodevelopmental disability rates ranging from 14.7% to 44.7% in preterm infants. The medical techniques have improved throughout the years, as the morbidity-free survival rate of very-low-birth-weight infants has increased; however, the neonatal and long-term morbidity rates have not significantly improved. To this date, there is no strong evidence on pharmacological management on GM-IVH, due to the limitation of well-designed randomized controlled studies. However, recombinant human erythropoietin administration in preterm infants seems to be the only effective pharmacological management in limited situations. Hence, further high-quality collaborative research studies are warranted in the future to ensure better outcomes among preterm infants with GM-IVH.