• Clinical and Experimental Pediatrics
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• v.57 no.8
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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.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.1
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• pp.10-15
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• 2007

Probably the three most important components to a comprehensive evaluation of patients with attention-deficit hyperactivity disorder (ADHD) are the clinical interview, the medical examination, and the completion and scoring or behavior rating scales. Teachers and other school personnel are often the first to recognize that a child or adolescent might have ADHD, and often play an important role in the help-seeking/referral process. A diagnostic evaluation for ADHD should include questions about ADHD symptoms, other problems including alcohol and drug use, family history of ADHD, prior evaluation and treatment for ADHD. Screening interview or rating scales as well as interviews should be used. When it is feasible, clinicians may wish to supplement these components of the evaluation with objective assessments of the ADHD symptoms, such as psychological tests. These tests are not essential to reaching a diagnosis, however, or to treatment planning, but they may yield further information about the presence and severity of cognitive impairments that could be associated with some cases of ADHD. Screening for intellectual ability and academic achievement skills is also important in determining the presence of comorbid developmental delay or loaming disabilities. The number and type of symptoms required for a diagnosis of ADHD vary depending on the specific subtype. To receive a diagnosis of ADHD, the person must be experiencing significant distress or impairment in daily functioning, and must not meet criteria for other mental disorders which might better account for the observed symptoms such as mental retardation, autism or other pervasive developmental disorders, mood disorders, anxiety disorders. This report aims to suggest a practice guideline of assessment and diagnosis for children and adolescents with ADHD in Korea.

• Journal of the Ergonomics Society of Korea
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• v.34 no.4
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• pp.327-334
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• 2015

Objective: The purpose of this study was to evaluate Korean workers' work ability and to identify its contributing factors. Background: In order for Korea to overcome the phenomena of becoming an aged society, older adults must participate in the workforce to balance out the population; workers' work ability must also be maintained. In addition, influential factors in employees' capabilities and degrees of importance thereof should be identified in advance to maintain work ability. Method: The Work Ability Index (WAI) questionnaire was completed by 5,708 Korean workers. Survey questionnaire consisted items of current work ability, physical and mental demands of the job, numbers of diseases, work impairment due to diseases, sick leaves, work ability in 2 years and mental resources. Results: Results indicated that work ability and length of service increased with age. It was also found that employees in administrative positions had greater work ability than site workers, workers directly managed by a supervisor had greater work ability than workers in cooperative firms, and workers who performed intellectual tasks had greater work ability than workers who performed physical labor. Job stress was additionally observed to contribute towards overall work ability. And musculoskeletal disorders (MSDs) were found to negatively affect work ability. Conclusion: The strongest determining factors in the work ability of Korean workers were stress level and mental state. Therefore, when the WAI is used to assess Korean workers, the weighting of WAI items pertaining to physical and mental abilities should be adjusted accordingly to account for these factors. Application: The result is expected to suggest that workers maintain work ability in an aged society.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.27-30
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• 2016

A salivary stone on mouth floor was removed in a 10-year-old girl with cerebral palsy and epilepsy. If left untreated, sialolithiasis can lead to inflammation of whole salivary gland with severe pain and inflammation that spread to other side of salivary gland causing damaging of teeth, abscess, and nerve disorders. Special needs patients have difficulty to express their pain or discomfort. To overcome communication problem and offer appropriate treatment in proper time, a careful and comprehensive clinical examination including soft tissue and tooth should be prioritized in special needs patients visiting the dental clinic.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• 재활복지
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• v.21 no.4
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• pp.195-208
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• 2017

This study aimed to investigate the effect of the participation in rehabilitation horseback riding program on the sleep, and to provide the basic data by analyzing the sleep of individuals with autism spectrum disorders. This study subjects consisted of 10 individuals with autism spectrum disorders residing in a residential care facility for the people with intellectual disabilities. They participated in the 12 weeks rehabilitation horseback riding program regularly. To investigate the effects of participating this program on sleep, subjects' sleep time, wake-up time, total sleep time and wake-up frequency during sleep were measured. Descriptive statistics and Friedman test were conducted to analyze the change the sleep. As a reulst of anlysis, it was found that the sleep time came earlier, the total sleep time increased, and the wake-up frequency during sleep reduced. Therefore, the rehabilitation horseback riding program participation was shown to have a positive effect on the subjects' sleep. Since the application of this program can act as a positive factor in the sleep of the participations, it is expected to be used as an in-facility program for the residents with autism spectrum disorders.

• Journal of Korea Entertainment Industry Association
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• v.13 no.3
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• pp.249-258
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• 2019

The health care services are the most basic social institutions that are provided to citizen including disabled persons for improvement of health. However, the study of the difference of health care services according to the speech therapy use in the people with speech-language disorders was insufficient. The aim of this investigation was to compare the awareness of health care services and characteristics of people with speech-language disorders according to speech therapy use. The researchers selected 229 people with language disorder using raw data of National Survey of the Disabled Person (2017). We compared the characteristics and health care services of people with speech-language disorders by distinguishing between speech therapy non-users and speech therapy users. Among the 229 people with language disorder, speech therapy users were 37 persons (16.2%). In comparison with non-users, users were younger, more preschoolers, more family incomes, and intellectual disabilities and autistic disorder were the most common types of disability enrollment. Users had a lower proportion of unmet medical needs than non-users. For the reasons of unmet medical need, there were 6.8% and 6.3% of the "economic reasons" and "communication difficulties" Both users and non-users responded that "disability management services" need to be strengthened by the government. In conclusion, we suggest that access to health care services needs to be increased to lower the barriers of speech therapy use.