• Journal of the Korea Society of Computer and Information
• /
• v.18 no.4
• /
• pp.201-211
• /
• 2013

The purpose of this study is to identify the educational effects of Whole language approach through ICT Education to see children with intellectual disorders's change after praticing this program. It's specially meant determine specially, It's impact on reading ability. by focusing reading comprehension. (comprehension of detail contents and memorizing of detail contents.) that is differences of other existing research. The subjects are 14-16 years old who are with intellectual disorders and This study utilized a single case. (1) Is there any effects of the whole language approach through ICT Education on comprehension of detail contents, (2) Is there any effects of the whole language approach through ICT Education on memorizing of detail contents. The result showed the following: First, the Whole language approach served to increased comprehension of detail contents of children with intellectual disorders. Second, the Whole language approach served to increased memorizing of detail contents of children with intellectual disorders. Third, the Whole language approach given to positive influence about maintenance that comprehension of detail contents and memorizing of detail contents of children with intellectual disorders.

• Clinical and Experimental Pediatrics
• /
• v.49 no.10
• /
• pp.1026-1030
• /
• 2006

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.

• Journal of Genetic Medicine
• /
• v.20 no.2
• /
• pp.70-74
• /
• 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.

• The Journal of Pediatrics of Korean Medicine
• /
• v.33 no.4
• /
• pp.60-73
• /
• 2019

Objectives This study reviewed the effects of a combined treatment with Kampo and Western medicine for Developmental disability in Japan, and the provision of education programs in clinical care. Methods The search database includes J-STAGE. To narrow the search, the following key words were used: 'pervasive developmental disorders, Attention-Deficit/Hyperactivity Disorder, Learning Disorders or Learning Disabilities, Intellectual Disability, and Kampo'. The search was limited to the publication date from 2001 to 2019. Results 1. Japan analyzed five sections: The usage of the Kampo medicine ranges from 25.2% to 71.6%, and the Kampo medicine was highly used in large cities. 2. In Japan, the educational programs were provided for the caregiver and special educational programs were available for children with disabilities. 3. In Japan, there were 9 studies regarding developmental disability treating with herbal remedies. There were seven clinical trial reports, and two were published in a review or report form. 4. The results showed benefits of using Kampo for patients with lack of Yin in blood in treatment of developmental disorder. It is also important to control the liver qi and Yin in blood. 5. Seven papers reported no side effects or abnormal findings. They have reduced the use of antipsychotics. Conclusions These review studies in regards to the combined treatment of Kampo and Western medicines can be helpful to improve long term side effects of the antipsychotics used in developmental disorders.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.13 no.1
• /
• pp.1-5
• /
• 2017

According to the Ministry of Health and Welfare, the portion of physical disability was 51.4% which was the highest among the registered disabled in December 2015, followed by visual disability(10.1%), disability of the brain lesions(10.0%), hearing disability(10.0%). The aim of this study is to investigate the types of disability in patients with disabilities visiting the Pediatric Dentistry, Chonbuk National University Dental Hospital in 2016. Of the patients who visited the pediatric dentistry, 196 patients (7.5%) had disabilities, and 19 patients had two or more disabilities. Twelve patients (6.1%) had both disabilities of brain lesion and intellectual disorder. Of the 177 patients with only one disability, 54 patients (30.5%) had physical disorders and 123 patients (69.4%) had psychiatric disorders. In psychiatric disorders, intellectual disorder was the most with 98 patients (55.3%), followed by autistic disorder with 23 patients (12.9%). In physical disorders, disability of brain lesion was the most with 37 patients (20.9%), followed by speech disability with 8 patients (4.5%). In this study, as a result of analyzing the types of disability with the patients who visited the Pediatric Dentistry of Chonbuk National University Dental Hospital, most of them had either intellectual disorder, disability of brain lesion, or autistic disorder. Dentists need to understand their general and dental characteristics to treat children and adolescents with disabilities. Since the most chief complaint of the patients was dental caries, early interventions should be made by dentist to reduce the incidence of the disease.

• Clinical and Experimental Pediatrics
• /
• v.57 no.8
• /
• pp.363-369
• /
• 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.

• Journal of rehabilitation welfare engineering & assistive technology
• /
• v.9 no.2
• /
• pp.105-113
• /
• 2015

The purpose of the study was to verify the clinical effect of Computer-based cognitive rehabilitation program for Children for recovering the visual perception and ADL ability in intellectual disability. For this purpose, 3 intellectual disabilities with visual perception and ADL disorders participated in a clinical experiment to verify the effect of Computer-based cognitive rehabilitation program. They all have 5 common conditions in intellectual disability for objective experimental result. All participant were evaluated with Korean-Development Test of Visual Perception-2(K-DTVP-2), Wee Functional Independence Measure(Wee-FIM) before and after the planned intervention sessions. All intervensions were intensively carried out for 20weeks, 1 time a week. The result were as follows. K-DTVP and Wee-FIM scores were improved significantly compared to pre-intervention. Further studies are needed to verify the effect on various group and lots of participants.

• The Journal of Pediatrics of Korean Medicine
• /
• v.16 no.1
• /
• pp.105-124
• /
• 2002

With the progress of civilization, the disorders due to the stress, which derived from the social-structural complexity and diversity, are on an increasing trend in our times. Accordingly, the accurate diagnosis and appropriate treatment for them are required. Especially in the current years, children's disorders delivered by the emotional problems keep increasing. In this research, the researcher tried to figure out the cause of the children's stress and its treatment, studied the theories of the stress in the modem medicine and the sever emotions in oriental medicine, and came to the conclusion as follows: 1. The stress can be defined as the combination of the reaction to noxious stimuli and its defense mechanism of the body, In oriental medicine, it is considered as pathological notions which includes seven emotions as the internal factor, six evils as the external factor and other foods, expectoration, ecchymoma as the non-internal/external factors. 2. Children usually get stressed by various reasons in a growth process such as schooling, relationship with friends, the opposite sex of family, or change of surroundings, and these can cause the various disorders. 3. In the study of the children's stress symptoms, it is found that the silent reaction is uncommon. It usually appeared in both reactions: firs, physical reactions such as stomachache, vomiting, headache, neural frequent urination, bronchial asthma or excessive respiration and/or, second, behavioral reactions such as a decline of performance, alimentary disorder, e.g. anorexia nervosa or bulimia, sleep disorder, e.g. nightmare or panic in sleep, anthrophobia, refusal to a school attendance or hyperactiveness. Besides, the peculiar mental disorder such as paroxysm of anger, tic, autism, nocturnal enuresis, lack of attentiveness, impediment in linguistic development, learning difficulty, intellectual decline, etc. can be appeared, and the heavy stress during the babyhood can cause the regression of behavior or the immaturity of formation of character. 4. The appropriate treatments for the children's stress are Osteopathy, Manpulation, Aroma Therapy, Alexander Technique, Autonomic Never Control Treatment, Biofeedback, Chiropractic, Dance Therapy, Feldenkrasis Technique, Gravity Therapy, Homepathy, Aquatherapy, Hypnotherapy, Naturopathy and Meditation.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.1-9
• /
• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Genes and Genomics
• /
• v.40 no.11
• /
• pp.1149-1155
• /
• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.