• 대한감각통합치료학회지
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• 제17권2호
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• pp.18-30
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• 2019

목적 : 발달지연 아동을 대상으로 Ayres 감각통합중재를 적용하여 감각처리능력과 운동발달에 미치는 영향을 알아보고자 하였다. 연구방법 : 만 3-5세의 발달지연 아동을 대상으로 실험군 9명과 대조군 8명이 본 연구에 참여하였고 Short Sensory Profile(SSP), Peabody Developmental Motor Scale-2(PDMS-2)를 사용하였다. 실험군은 Ayres의 중심원리에 따른 개별 감각통합치료를 40분씩, 주 2회, 8주간 총 16회기를 실시하였다. 분석은 SPSS 24.0 의 카이스퀘어 검정, 맨휘트니 U검정, 윌콕슨 부호순위 검정, Cohen's d 검정으로 하였다. 연구결과 : Ayres의 감각통합중재를 실시한 실험군은 중재를 실시하지 않은 대조군에 비해 감각처리능력은 전체 점수와 움직임 민감성, 청각 여과하기, 낮은 에너지/허약함에서 통계적으로 유의한 차이가 나타났다(p<.05). 실험군과 대조군의 운동발달은 대근육운동발달지수, 소근육운동발달지수, 전체운동발달지수 모두 통계적으로 유의한 차이가 나타났다(p<.05). 결론 : Ayres의 감각통합중재는 발달지연 아동의 감각처리능력과 운동발달에 긍정적인 영향을 미쳤다.

• Child Health Nursing Research
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• 제13권2호
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• pp.222-229
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• 2007

Purpose: This study was done to evaluate the validity of the Korean - Child Development Review in screening children with developmental risks. Method: The participants in the study were 172 children aged 6-75 months old and their parents. Data were collected by questionnaire or interview. Korean Denver II and Bayley test were administered with K-CDR for validation of children who were referred for developmental assessment at D University Hospital or public health center. The data were analyzed using correlation, $X^2$ test, and cross tab analysis. Results: There was a significant relationship between the K-CDR and Korean Denver II. The correlation coefficients were .42 to .61 by developmental sector. The sensitivity and specificity of K- CDR were .84 and .66 respectively when "abnormal" with MDI of Bayley test defined as lower than 85 the score which was used as a diagnosis of developmental delay. The responses to 6 questions for parents showed significant differences according to 3 groups by developmental state. Parents of children in the developmental disability group more frequently checked problems from the 26 problem checklist about their children's development and behavior. Conclusion: The results show that K-CDR is valid and has good sensitivity and moderate specificity in screening developmental delay.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

• 한국콘텐츠학회논문지
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• 제11권11호
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• pp.286-295
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• 2011

본 연구는 전반적인 발달지연, 감각 예민성, 촉각 방어와 작업수행의 문제를 가진 골덴하르 증후군 아동에게 감각통합치료를 적용하여, 골덴하르 증후군 아동의 감각통합 치료적 중재 개입방향을 제시하고자 하였다. 본 증례 아동은 만 7세 10개월 남아로 학교와 일상생활에서, 놀이와 학습에 대한 어려움, 운동발달 지연을 주 호소로 하여 검사가 의뢰되었다. 감각통합치료를 위한 평가로 캐나다 작업수행 측정(Canadian Occupational Performance Measure)시 바른 자세로 한글 읽고 쓰기가 첫째 작업수행 목표로 나타났고, 단축 감각프로파일(Short Sensory Profile) 과 감각 인터뷰에서는 감각 예민성과 촉각 처리영역에서 확연한 차이로 감각통합치료 중재가 요구되었다. 발달 프로파일 -3(Developmental Profile -3)은 5개 발달영역에서 전반적인 발달 지연이 나타났고, 운동 숙련도 검사 (Bruininks-Oseretsky Test of Motor Proficiency-2)에서 운동발달 수준이 평균 이하로 나타났다. 본 증례 아동에 대한 감각통합 치료를 통해 전반적인 발달, 감각예민성, 촉각방어와 같은 감각조절 기능이 향상되고, 작업수행이 개선되는데 도움이 되었다. 본 사례연구를 통해서 국내 골덴하르 증후군 아동의 감각통합치료 접근법에 기초 자료가 될 것이라고 사료된다.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Clinical and Experimental Pediatrics
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• 제65권1호
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• pp.10-20
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• 2022

The prevalence of developmental disabilities is increasing worldwide over time. Developmental issues in infancy or early childhood may cause learning difficulties or behavioral problem in school age, further adversely affecting adolescent quality of life, which finally lead to low socioeconomic status in family, increase in medical expenses, and other relevant issues in various ways. Early childhood has brain plasticity, which means there is a high chance of recovering from developmental issues by early detection and timely intervention. Pediatricians are placed an ideal position to meet with young children till 6 years of age, of which age range is the time applicable to early intervention. Determining child's developmental status can be made by 2 pathways such as developmental surveillance and developmental screening tests. For better results, pediatricians should update their knowledge about developmental issues, risk factors, and screening techniques through varying educational program or other relevant educating materials. This paper will update reports on the prevalence of developmental disabilities and review the recent results of the Korean developmental screening test and discuss relevant issues. Finally, it will be addressed the pediatrician's role in early detecting developmental issues and timely intervention.

• 한국전문물리치료학회지
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• 제12권3호
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• pp.31-38
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• 2005

The purpose of this study was to investigate the characteristics of cognitive development and motor development in children with developmental delays. Subjects were 43 children with a mean corrected age of 19.19 month (SD=7.48). The Gross Motor Function Measure (GMFM) and the Bayley Scale of Infant Development-second edition (BSID-II) were administered to the total children. Statistical analysis was done by paired t-test and Pearson correlation, using SPSS software. The results were as follows: 1) Most of the children with developmental delays showed statistical delays on the mental scale rather than on the motor scale. 2) The correlation coefficients of cognitive performance and motor performance were ranged between r=.38 and r=.83 in children with developmental delays. 3) Lower motor performance showed significant association with lower cognitive score. The findings suggest that cognitive and motor performance in children with developmental delays was significantly correlated.

• Toxicological Research
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• 제22권2호
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• pp.127-133
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• 2006

Recently, we have reported that the environmental pollutant 2-bromopropane (2-BP) induces a significant embryo-fetal developmental toxicity in rats. However, the cause of developmental toxicity and the relationship between maternal and developmental toxicities could not be elucidated because the developmental toxicity of 2-BP was observed only in the presence of maternal toxicity The in vitro teratogenicity study using whole embryo culture was carried out to understand the teratogenic properties and the possible mechanism of teratogenicity induced by 2-BP in rats. Rat embryos aged 9.5 days were cultured in vitro for 48 hrs at medium concentrations of 0, 1, 3, or 10 mg/ml of 2-BP. Embryos were evaluated for growth, differentiation, and morphological alterations at the end of the culture period. At 10 mg/ml, 2-BP caused a delay in the growth and differentiation of embryos and an increase in the incidence of morphological alterations, including altered yolk sac circulation, abnormal axial rotation, craniofacial hypoplasia, open neuropore, absent optic vesicle and kinked somites. At 3 mg/ml, only a delay in the growth and differentiation of embryos was observed. There were no adverse effects on embryonic growth and development at the concentration of 1 mg/ml. The results showed that the exposure of 2-BP to rat embryos results in a developmental delay and morphological alterations at dose levels of 3 mg/ml culture media or higher and that 2-BP can induce a direct developmental toxicity in rat embryos.

• Clinical and Experimental Pediatrics
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• 제57권8호
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• pp.363-369
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• 2014

Purpose: This study examines changes in developmental profiles of children with language delay over time and the clinical significance of assessment conducted at age 2-3 years. Methods: We retrospectively reviewed the medical records of 70 children (62 male, 8 female), who had visited the hospital because of delayed language development at 2-3 years, and were reassessed at ages 5-6. Language and cognitive abilities were assessed using multiple scales at the initial and follow-up visits. Results: At the initial test, 62 of the 70 children had mental development index (MDI) below 70 of Bayley Scales of Infant Development Test II. Of the 62 children in the follow-up assessment, 30 children (48.4%) remained within the same cognitive range (full-scale intelligence quotient, FSIQ<70 of Wechsler preschool and primary scale of intelligence), 12 had borderline intellectual functioning (FSIQ, 70-85), 6 improved to average intellectual functioning (FSIQ>85), and 5 had specific language impairment, 9 had autism spectrum disorders. At the initial test, 38 of the 70 children had cognitive developmental quotients (C-DQ) below 70. Of the 38 children in the follow-up assessment, 23 children (60.5%) remained within the same cognitive range (FSIQ<70). The correlation coefficient for MDI and FSIQ was 0.530 (P<0.0001) and that for C-DQ and FSIQ was 0.727 (P<0.0001). There was a strong correlation between C-DQ and FSIQ, and a moderate correlation between MDI and FSIQ. Conclusion: Low MDI scores reflect a specific delay in cognitive abilities, communication skills, or both. The C-DQ, receptive language development quotient, and social maturity quotient also help to distinguish between children with isolated language delay and children with cooccurring cognitive impairment. Moreover, changes in the developmental profile during preschool years are not unusual in children with language delay. Follow-up reassessments prior to the start of school are required for a more accurate diagnosis and intervention.

• Clinical and Experimental Pediatrics
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• 제59권2호
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.