• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

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 KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.34 no.4
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• pp.258-267
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• 2023

Objectives: This study aimed to compare the utility of the Psychoeducational Profile-Revised (PEP-R), Korean Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (K-WPPSI-IV), and Vineland Adaptive Behavior Scale, Second Edition (VABS-II) for evaluating developmental disabilities (DD) in preschool children. Additionally, we examined the correlations between the PEP-R, K-WPPSI-IV, and VABS-II. Methods: A total of 164 children aged 37-84 months were assessed. Children's development was evaluated using the PEP-R, K-WPPSI-IV, VABS-II, Preschool Receptive-Expressive Language Scale, and Korean Childhood Autism Rating Scale, Second Edition. Results: Of the 164 children, 103 had typical development (TD) and 61 had DD. The mean of the PEP-R Developmental Quotient (DQ), K-WPPSI-IV Full-Scale Intelligence Quotient (FSIQ), and VABS-II Adaptive Behavior Composite (ABC) scores were significantly higher in the TD group than in the DD group (p<0.001). The estimated area under the curve of the PEP-R DQ, K-WPPSI-IV FSIQ, and VABS-II ABC scores was 0.953 (95% confidence interval [CI]=0.915-0.992), 0.955 (95% CI=0.914-0.996), and 0.961 (95% CI=0.932-0.991), respectively, which did not indicate a statistically significant difference. The PEP-R DQ scores were positively correlated with the K-WPPSI-IV FSIQ (r=0.90, p<0.001) and VABS-II ABC scores (r=0.84, p<0.001). A strong correlation was observed between the K-WPPSI-IV FSIQ and VABS-II ABC scores (r=0.89, p<0.001). Conclusion: This study found that the PEP-R, K-WPPSI-IV, and VABS-II effectively distinguished DD from TD in preschool children, and no significant differences in utility were observed between them.

• Therapeutic Science for Rehabilitation
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• v.13 no.1
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• pp.49-63
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• 2024

Objective : The purpose of this study was to investigate parental perspectives on cognitive rehabilitation using a combination of phenomenological research methodology and word cloud analysis. Methods : Interviews were conducted with five parents of children with developmental disabilities. Word cloud analysis was conducted using Python, and five researchers analyzed the meaning units and themes using phenomenological methods. Words with high frequency were considered as a heuristic tool. Results : A total of 43 meaning units and nine components related to the phenomenon of cognitive rehabilitation were derived, and three themes were finalized. The main themes encompassed the definition of cognitive rehabilitation, challenges associated with cognitive rehabilitation, and factors influencing the selection of a cognitive rehabilitation institute. Cognitive rehabilitation emerged as a treatment focused on improving learning, daily functioning, and cognitive abilities in children with developmental disabilities. The perceived issues with cognitive rehabilitation pertained to treatment methods, therapist expertise, and associated costs. In addition, parents highlighted the importance of therapist expertise, humane personality, and affordability of cost and schedule when choosing a cognitive rehabilitation institute. Conclusion : Parents expressed expectations for substantial improvements in their children's daily functioning through cognitive rehabilitation. However, challenges were identified in clinical practices. Going forward, we expect that cognitive rehabilitation will evolve into a better therapeutic support service addressing the concerns raised by parents.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• International Journal of Advanced Culture Technology
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• v.12 no.1
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• pp.43-50
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• 2024

Patients with acute respiratory diseases, such as Middle East Respiratory Syndrome (MERS) due to COVID-19, must wear masks, protective clothing, face shields, and gloves to prevent infection during treatment and performance. Even if it is applied to disabled people, families who protect them are severely mentally tired from severe physical fatigue and stress from exposure to high-risk infectious diseases. As such, the spread of infectious diseases such as respiratory diseases has not only caused difficulties in using existing welfare and medical services but also caused various problems throughout the daily life of disabled people due to the prolonged infectious disease, and its scope is gradually expanding. Therefore, it should not be overlooked that disabled people may experience various difficulties, from the spread of infectious diseases such as respiratory diseases to isolation, diagnosis, and treatment, and it is time to actively assess the life changes felt by families caring for disabled people and consider and research to provide adequate services. According to the survey of disabled people is being conducted in the context of the spread of infectious diseases such as respiratory diseases, while research on the spread of infectious diseases such as respiratory diseases is rare for parents with disabilities. There is a need for additional investigation into the characteristics in other areas of everyday life, including the health field, which is deteriorating through prior research. Therefore, through this survey, the purpose of this study is to investigate the life changes of parents with disabilities in the context of the spread of infectious diseases such as respiratory diseases and to compare and analyze them to find out how parents were affected by each type of disability. It will be used as evidence to identify more necessary needs and problems for parents with disabilities in the spread of infectious diseases such as respiratory diseases and to provide more appropriate health care and welfare services in the future.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.42-45
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• 2013

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.11-15
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• 2016

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, and speech impairment. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking swallowing disorder, and excessive chewing behavior. A 3-year-6-month old girl with Angelman syndrome was scheduled for dental treatment. She had multiple caries, but she was poorly cooperative for treatment due to developmental delay and movement disorder, so general anesthesia was considered. The patient with Angelman syndrome was successfully treated under general anesthesia. There were no postoperative complications related to anesthesia and dental treatment. When treating children with this syndrome, the dentist needs to manage their uncooperative behavior and medical problem.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.1
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• pp.23-26
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• 2009

Mental retardation is defined by the American Psychiatric Association as" subnormal general intellectual functioning which originates during the developmental period and is associated with impairment of either learning and social adjustment or maturation, or both." A patient with mild to moderate mental retardation can be managed adequately using restraints and medications. However, in case of severe or profound mental disability, dental treatment cannot be accomplished even with the use of behavior modification, physical restraints and sedation techniques. When treatment in the dental office has much difficulty, hospitalization for dental treatment under general anesthesia can and should be considered. This case presents the treatment of a patient with mental retardation who was referred to our department for comprehensive dental care. Dental examination revealed widespread dental caries and a severe anterior open bite with crowding problems. Under general anesthesia, generalized caries treatment was performed by our department, and the anterior dental esthetics was achieved in collaboration with the department of prosthodontic dentistry.

• The Journal of Korean Academy of Sensory Integration
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• v.20 no.1
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• pp.55-72
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• 2022

Objective : The purpose of this study was to identify the status and trends of Korean child occupational therapy intervention studies according to the International Classification of Functioning, Disability, and Health, Children and Youth Version (ICF-CY). Methods : In this research, 47 studies on occupational therapy interventions for children that were published between January 2017 and December 2021 in the Journal of Occupational Therapy, registered in the Korea Citation Index, and analyzed the classification of the study type and evidence level to understand the trends. Moreover, intervention objectives and approaches were analyzed on the basis of the ICF-CY. Results : The outcomes of the analysis of the articles published in the Journal of Occupational Therapy were as follows: (1) Level IV was the highest evidence level (53.19%). (2) Among the studies, most (53.7%) included school-age children as subjects. Autism spectrum disorders and developmental delays were the most common diagnoses (14.8%). (3) As for the purpose of intervention according to ICF-CY, activity and participation factors were the most common (48.94%), and a sensory approach was frequently used. Conclusion : This study reviewed articles on occupational therapies for children that were published in the Journal of Occupational Therapy to understand the trends in occupational therapy interventions for children in South Korea. For the development of occupational therapies for children in the future, more qualitative research types and studies on various intervention approaches are needed.

• 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.