- Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
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Yun JH, Hong YH, Seo GH, Shin YL
- KMID: 2537691
- J Genet Med.
- 2022 Dec;19(2):94-99.
- doi: 10.5734/JGM.2022.19.2.94
Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized... -
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- Efficacy of Mobile-Based Cognitive Training Program DoBrain in Preschool Children With or Without Developmental Disabilities: A Randomized, Single-Blind, Active-Controlled Trial
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Lee T, Kim S, Kim J, Park KJ, Kim HW
- KMID: 2537382
- Psychiatry Investig.
- 2022 Dec;19(12):1000-1011.
- doi: 10.30773/pi.2022.0136
Objective Mobile-based cognitive training programs can be a viable alternative to in-person interventions, but their efficacies have not been established yet. In this study, we examined the efficacy of DoBrain,... -
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- Factors influencing quality of life in caregivers of adolescents with developmental disabilities
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Joung JW
- KMID: 2532911
- Osong Public Health Res Perspect.
- 2022 Aug;13(4):298-307.
- doi: 10.24171/j.phrp.2021.0158
Objectives Caring for adolescents with developmental disabilities (DD) is stressful and challenging, and mothers usually provide care for these children in Korea. This study aimed to identify factors influencing quality... -
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- Serial Long-Term Growth and Neurodevelopment of Very-Low-BirthWeight Infants: 2022 Update on the Korean Neonatal Network
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Jeon GW, Lee JH, Oh M, Chang YS
- KMID: 2532757
- J Korean Med Sci.
- 2022 Aug;37(34):e263.
- doi: 10.3346/jkms.2022.37.e263
Background: We aimed to evaluate the long-term growth and neurodevelopmental outcomes of very-low-birth-weight infants (VLBWIs, birth weight < 1,500 g) born between 2013, the establishment of the Korean Neonatal Network... -
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- Structural Equation Modeling for Quality of Life of Mothers of Children with Developmental Disabilities: Focusing on the Self-Help Model
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Yang MR, Yu M
- KMID: 2530748
- J Korean Acad Nurs.
- 2022 Jun;52(3):308-323.
- doi: 10.4040/jkan.22013
Purpose: This study aimed to construct and test a predictive model for the quality of life (QOL) in mothers of children with developmental disabilities (DB). The hypothesized model included severity... -
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- Neurodevelopmental outcomes and comorbidities of children with congenital muscular torticollis: evaluation using the National Health Screening Program for Infants and Children database
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Kim OH, Lee SW, Ha EK, Kim JH, Jo YH, Rhie S, Han MY, Chae KY
- KMID: 2530174
- Clin Exp Pediatr.
- 2022 Jun;65(6):312-319.
- doi: 10.3345/cep.2021.01417
Background: Congenital muscular torticollis (CMT) is a common musculoskeletal disorder occurring at birth or in infancy. Purpose: This study aimed to investigate the risk of comorbidities in CMT and explore the... -
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- How Must We Prepare in the Next Decades When Caring for Those With Developmental Disabilities: “Grown Up” (2018)
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Hwang JW
- KMID: 2530904
- J Korean Acad Child Adolesc Psychiatry.
- 2022 Apr;33(2):55-56.
- doi: 10.5765/jkacap.220007
The Guarantee of Rights and Support for Persons with Developmental Disabilities Act was enacted and revised in 2014. However, national measures for persons with developmental disabilities remain insufficient. In the... -
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- Neurodevelopmental Outcomes of Very-Low-Birth-Weight Infants without Severe Brain Lesions and Impact of Postnatal Steroid Use: A Single-Center Korean Study
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Jeong MH, Jeong SH, Park SJ, Lee N, Bae MH, Park KH, Byun SY, Kim C, Han YM
- KMID: 2527259
- Neonatal Med.
- 2022 Feb;29(1):36-45.
- doi: 10.5385/nm.2022.29.1.36
Purpose: We used the Bayley Scales of Infant and Toddler Development (BSID)-III to analyze the incidence and risk factors of developmental delay in very-low-birth-weight infants without severe brain lesions. We... -
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- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
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Kim AR, Lee JM, Seo GH, Lee SI, Bae H, Lee YJ
- KMID: 2524739
- J Genet Med.
- 2021 Dec;18(2):127-131.
- doi: 10.5734/JGM.2021.18.2.127
Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is... -
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- Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
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Bae S, Yang A, Ahn JH, Kim J, Park HK
- KMID: 2517214
- J Genet Med.
- 2021 Jun;18(1):60-63.
- doi: 10.5734/JGM.2021.18.1.60
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... -
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- Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population
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Kim WJ, Shim YK, Ko YJ, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH
- KMID: 2514482
- Ann Child Neurol.
- 2021 Apr;29(2):68-74.
- doi: 10.26815/acn.2020.00304
Purpose: Syntaxin-binding protein 1 (STXBP1) mutations are known to result in various phenotypes including Ohtahara syndrome, West syndrome, and autism, collectively referred as STXBP1 encephalopathy. This study aimed to expand... -
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- A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication
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Kim BJ, Jang W, Kim M, Youn Y
- KMID: 2510003
- J Genet Med.
- 2020 Dec;17(2):102-107.
- doi: 10.5734/JGM.2020.17.2.102
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... -
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- Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
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Kim TG, Choi YH, Lee YN, Kang MJ, Seo GH, Lee BH
- KMID: 2510001
- J Genet Med.
- 2020 Dec;17(2):92-96.
- doi: 10.5734/JGM.2020.17.2.92
Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as... -
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- Meta-Analysis on the Effect of Therapeutic Horseback Riding on Children with Developmental Disabilities and Neural Patients
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Noh H, Kim J, Park J
- KMID: 2520084
- J Korean Phys Ther.
- 2020 Oct;32(5):312-318.
- doi: 10.18857/jkpt.2020.32.5.312
Purpose: This study aimed to investigate the evidence that therapeutic horseback riding can improve balance, muscle, ADL, equivalenc, GMFM, gait, emotion with developmental disabilities and neural patients. Methods: To conduct meta-analysis,... -
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- Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
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Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW
- KMID: 2470097
- J Genet Med.
- 2019 Dec;16(2):49-54.
- doi: 10.5734/JGM.2019.16.2.49
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... -
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- Clinical Usefulness of the Korean Developmental Screening Test (K-DST) for Developmental Delays
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Jang CH, Kim SW, Jeon HR, Jung DW, Cho HE, Kim J, Lee JW
- KMID: 2457758
- Ann Rehabil Med.
- 2019 Aug;43(4):490-496.
- doi: 10.5535/arm.2019.43.4.490
OBJECTIVE: To evaluate the clinical usefulness of the Korean Developmental Screening Test (K-DST) via comparison with Korean Ages and Stages Questionnaire (K-ASQ) for the diagnosis of developmental delay in pediatric... -
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- Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
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Park KB, Nam KE, Cho AR, Jang W, Kim M, Park JH
- KMID: 2449004
- Ann Rehabil Med.
- 2019 Apr;43(2):215-223.
- doi: 10.5535/arm.2019.43.2.215
OBJECTIVE: To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. METHODS: A retrospective chart review was done for 65 children who underwent... -
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- Relationship in Quality of Diet, Food Habit and Feeding Practice in Children with Pervasive Developmental Disorder and Their Caregiver
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Joo J, Kim J, Kim DY, Choue R, Lim H
- KMID: 2444226
- Clin Nutr Res.
- 2019 Apr;8(2):91-100.
- doi: 10.7762/cnr.2019.8.2.91
This study aimed to assess the dietary quality and food habits in children with pervasive developmental disorder (PDD) and to evaluate the relationship between diet quality of children with PDDs... -
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- Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing
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Hong JH, Kim SH, Lee ST, Choi JR, Kang HC, Lee JS, Kim HD
- KMID: 2437112
- J Korean Child Neurol Soc.
- 2018 Dec;26(4):272-275.
- doi: 10.26815/jkcns.2018.26.4.272
KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause... -
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- Multidisciplinary Approaches in Developing Guideline for Mediating Behavioral Problems in Children and Adolescents with Neurodevelopmental Disorders
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Hong K, Song H, Oh M, Oh Y, Park S, Kim Y, Choi S
- KMID: 2419265
- J Korean Neuropsychiatr Assoc.
- 2018 May;57(2):190-208.
- doi: 10.4306/jknpa.2018.57.2.190
OBJECTIVES: To initiate and develop a treatment guideline in multidisciplinary approaches for related professions who are either working and/or living with children and adolescents with neurodevelopmental disorders who show behavioral... -
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