• Clinical and Experimental Pediatrics
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• 제60권9호
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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.

• 한국콘텐츠학회논문지
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• 제10권11호
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• pp.275-284
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• 2010

본 연구는 3-5세 아동을 대상으로 발달선별검사인 K-DDSTII, K-ASQ을 실시하여 발달지연 결과를 가진 하부검사와 가정환경 간의 관련성을 알아보았다. 연구결과, K-DDST에서는 가족환경 중 아버지의 나이와 개인사회성, 어머니의 나이와 교육력이 대동작과 통계적으로 차이가 있었다. 또한 K-ASQ에서는 의사소통과 성별, 출생순서와 부모의 교육력에서 통계적으로 유의한 차이가 있었으며, 문제해결과 출생순서, 그리고 하부검사 중 하나이상의 발달지연이 있는 경우는 성별과 출생순서와 유의미한 통계적 차이가 있었다. 본 연구결과 발달선별 검사 시에 가족환경에 관한 조사가 병행된다면 아동 발달에 대한 선별검사의 효율성을 높이는 방안의 하나일 수 있음을 제시 할 수 있을 것이다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제23권4호
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• pp.175-180
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• 2012

Early detection and intervention is critical in improving prognosis of developmental disorders. Developmental delay can have many different causes and the clinical features of developmental delay are diverse according to its etiologic causes and severity. The vast and rapid growth of the child's neurobehavioral repertoire from birth through adolescence requires the physician's abundant experience, knowledge, and understanding of development. Here, we summarize instruments for use in neurodevelopmental assessment of infants and toddlers, focusing on motor development, which is the most frequent complaint listed in the developmental clinic.

• Child Health Nursing Research
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• 제14권1호
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• pp.44-52
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• 2008

Purpose: The purpose of this study was to evaluate and compared the growth and development of premature and full-term infants during the 2 years after birth. Method: The participants were 102 infants, 51 each for premature infants, and for healthy full-term infants. Participants in the premature group accounted for 17.5% of all premature infants who were registered at the public health center in G city. Developmental status was evaluated using the Korean Denver II. Results: The catch-up growth of the premature was 100% in weight and in height. Suspicious developmental delay according to the Korean Denver II was 3.9% in normal infants and 31.2% in premature infants. Factors related to the suspicious developmental delay in premature infants were their age and health state at birth. The rate of suspicious developmental delay was higher in infants over 6 months and infants unhealthy at birth. Conclusion: A premature follow-up program, which includes nutrition education to achieve catch-up growth and to prevention obesity, along with continuous developmental screening test for infants and children born prematurely is recommended. Provision for home visits and telephone counseling for premature infants and their families who do not to use the public health center should also be included.

• 한국산학기술학회논문지
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• 제15권7호
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• pp.4198-4211
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• 2014

연구의 목적은 일반 유치원에서 통합교육활동이 발달지체 아동의 사회적 기술 향상에 미치는 효과를 알아보는 것이다. 연구대상자는 경상남도 김해시에 소재하고 있는 특수학교 유치부에 재학 중이며, 모든 영역에서 발달이 지체되어 있는 아동 3명이다. 실험 방법은 발달지체 아동과 비장애 아동의 다양한 교육활동을 촬영한 후 그 결과를 분석하였다. 연구결과, 세 아동들이 언어적, 인지적, 정서적 특성의 차이에 의한 사회적 기술을 학습으로 변화했고, 광범위한 교육 활동은 협력기술, 의사소통기술, 자기통제 기술 향상에 효과가 있었다.

• International Journal of Advanced Culture Technology
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• 제10권4호
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• pp.294-303
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• 2022

The purpose of this study is to examine the effects of sensory integration training on children with developmental delays. To achieve this goal, an educational experiment is conducted in five main areas: gross motor ability, fine motor ability, adaptive ability, language and social ability in children with developmental delay. The study subjects were children with developmental delays aged 3-6 years diagnosed at Beijing Institute of Pediatrics and Beijing Medical University and received sensory integration intervention and homebased training at the Golden Rain Forest Beijing Tongzhou Center from 2018 to 2021. According to the purpose of the analysis, the data collected are subjected to descriptive statistics using SPSS 21.0 statistical program, Two-way MANOVA analysis, and data analysis method of multivariate analysis is used to process the collected data. In addition, a total of 39 subjects were selected, including 19 children who received sensory integration training and 20 children who only received family training. The results show that the sensory integration training group outperformed the home training group in all aspects and developmental quotient, but the home training group also showed higher levels of significance for improvements in gross motor, fine motor and developmental quotient.

• Child Health Nursing Research
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• 제8권3호
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• pp.302-312
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• 2002

This descriptive exploratory study was conducted to analyze the results of developmental screening test using DDST and the follow-up diagnostic evaluation in one public health center, and to evaluate the feasibility of developmental screening in nursing. Samples were 373 children under 6 years who visited the public health center. Mothers' satisfaction on the developmental clinic was also determined. Summaries of the results were as follows:v 1. 0.5% of children in height and 1.9% of children in weight were included in below 3 percentile of Korean children's growth chart, but none of them showed developmental delay. 2. The results of DDST showed 92.1% of subjects were classified as normal, 3.7% as abnormal, and 4.2% as questionable among 354 children. 3. Most of children who showed the abnormal development at the first DDST were confirmed having the developmental delay at the follow-up diagnostic evaluation. On the other hand, most of children who showed the questionable development at the first DDST revealed having the normal development in follow-up screening test. 4. The result of the DDST was influenced by the birth order of the subject and delivery type. 5.The mean satisfaction score by mothers on developmental clinic was 4.35 in 5 Likert scale. In conclusion, we could certain the feasibility and usefulness of developmental screening in community and child care nursing. To fulfil the increasing needs of mothers with infants on the child development, nurses have to provide anticipatory guidance and parent education in addition to the developmental screening test. We hope to expand the developmental screening in nursing field not only of clinical setting but also of community.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.60-63
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• 2021

Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

• Child Health Nursing Research
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• 제13권1호
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• pp.51-57
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• 2007

Purpose: The purpose of this study was to look for physical growth and developmental retardation of the disabled children in registered educational institutions. Method: The participants in this study were 103 children. The data was collected from January to September 2006. Body weight, height and head circumference were measured and the Denver II developmental screening tool was used to measure personal-social development. Results: For 40.8% of the children body weight was less than the average for Korean children of the same age, for 49.5% height was lower than average and for 44.7% head circumference was lower. For 84.5% of the children there was a delay in personal-social development, for 87.4% a delay in fine motor-adaptive development, for 80.6% a delay in speech development and for 81.6% a delay in gross motor development. Conclusion: Based on the findings of this study, it is necessary to develop an individual developmental programs for these children based on their growth and development status.

• Clinical and Experimental Pediatrics
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• 제49권10호
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• pp.1019-1025
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• 2006

Motor delay, when present, is usually the first concern brought by the parents of children with developmental delay. Cerebral palsy that is the most common motor delay, is a nonspecific, descriptive term pertaining to disordered motor function that is evident in early infancy and is characterized by changes in muscle tone, muscle weakness, involuntary movements, ataxia, or a combination of these abnormalities. A wide range of causative disorders and risk factors have been identified for cerebral palsy, and broadly classified into 5 groups; perinatal brain injury, brain injury related to prematurity, developmental abnormalities, prenatal risk factors, and postnatal brain injury. Delay in attaining developmental milestones is the most distinctive presenting complaint in children with cerebral palsy. A detailed history and thorough physical and neurologic examinations are crucial in the diagnostic process. The clinician should be cautious about diagnostic pronouncement unless the findings are unequivocal. Several serial examinations and history review are necessary. All children with cerebral palsy should undergo a neuroimaging study, preferably MRI, because an abnormality is documented on head MRI(89%) and CT(77%). The high incidence rates for mental retardation, epilepsy, ophthalmologic defects, speech and language disorders and hearing impairment make it imperative that all children with cerebral palsy be screened for mental retardation, ophthalmologic and hearing impairments, and speech and language disorders; nutrition, growth, and swallowing also should be closely monitored.