• 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.

• The Journal of the Korea Contents Association
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• v.10 no.11
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• pp.275-284
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• 2010

The purpose of this study is to investigate the relationship between family environment and developmental delay in a sample of normal 3-5 years old children. Developmental evaluation is performed using K-DDST II and K-ASQ. Family environment is researched by survey. The survey questions include children's order, family numbers, religion, patient's age, patient's education history. Subject is selected between the age of 3-5 years old children. The test has been conducted to find an interrelationship between a developmental delayed result and family environment. Study has found that there is a strong relationship between developmental delay and children's family environment. Family environment factor includes children's gender, birth order, parent's age, education history. Therefore, developmental evaluation must have consideration on the element of children's family environment for developmental delay test because of a strong relationship between family environment and developmental delay result.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.4
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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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• v.14 no.1
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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.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.15 no.7
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• pp.4198-4211
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• 2014

The purpose of this study was to integrate the general education activities in the preschool developmental delay regarding the effect on the social skills of infant and young children. The participants of this research were young children with a developmental delay, who were enrolled in a school for the physically challenged in Gim-Hae City, South Kyongsangnamdo in Korea. An experimental qualitative module was selected to observe the social consequences after taking the extensive educational programs on young children with a developmental delay. The data was based on the observations of a researcher regarding the child's behavior and videotaped material was analyzed qualitatively in terms of the occasions and their social behaviors while extensive education was performed. The qualitative analysis explains the lower arena of the learning social skill including the quantitative changes in the communicational skill, and self-control skills.

• International Journal of Advanced Culture Technology
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• v.10 no.4
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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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• v.8 no.3
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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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• v.18 no.1
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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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• v.13 no.1
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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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• v.49 no.10
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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.