• 재활복지
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• v.21 no.3
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• pp.1-22
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• 2017

Although not many older Korean parents who take care of children with intellectual disabilities have been reported depression due to care-giving related stresses, little is known about how they could be protected from this. This study examines whether satisfaction with family relationships moderate the relationships between time demands, caregiving stress, and depression of older parents who take care of children with intellectual disabilities. The analyses were conducted based on data from the Korean National Survey on Individuals with Developmental Disabilities and their Families of 2011, and only a total of 276 parents, aged over 60 were examined. Multiple regression analysis shows that older parents with higher level of satisfaction with family relationships were less likely to be influenced by time demands of care-giving. This indicates that satisfaction with family relationships could buffer the relationships between time demands of care-giving, and depression. This finding suggests that satisfaction with family relationships is a protective factor, buffering the negative effects of time demands of care-giving and depression. This supports 'socio-emotional selectivity theory' which family relationships are important to older people. Therefore, it is highly recommended to develop practical intervention that can improve the level of satisfaction of family relationship of the older parents, and to make policy and institutional supplementation.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

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 caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• The Journal of Pediatrics of Korean Medicine
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• v.15 no.2
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Therapeutic Science for Rehabilitation
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• v.12 no.4
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• pp.23-37
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• 2023

Objective : This study systematically reviewed the collaborative team interventions of the Individualized Education Plan (IEP) using the International Classification of Functioning, Disability, and Health-Children and Youth (ICF-CY) framework to establish the professional domain of occupational therapists in Korea and their role as experts in IEP cooperative team interventions in special education. Methods : Articles were collected from the EBSCOhost, ProQuest, and PubMed databases. International search terms included "Special education," "Individualized education plan (IEP)," "IEP process," "IEP implementation," and "Occupational therapy." The study period was limited from January 2013 to February 2023, and the final 10 studies were analyzed using secondary classification. Results : Most studies were randomized experiments targeting individuals with autism, and often employed environmental improvements. The IEP collaborative team interventions using the ICF-CY framework emphasized goals related to activity (five studies), participation (four studies), and body structure/function (one study). Conclusion : Occupational therapists play a crucial role in collaborative IEP team interventions. This study established expertise in the context of special education in South Korea.