Objective: This study aims to analyze the disease burden of intellectual disability among Chinese children and adolescents aged 0-19 years in 2019 and its trends from 1990 to 2019. Methods: Data were gathered from the Global Burden of Disease study. The prevalence and years lived with disability (YLDs) of intellectual disability among Chinese children and adolescents were compared with the global average by gender, age group, and severity of disability in 2019. Joinpoint regression model was used to analyze the trends in the prevalence and YLDs of intellectual disability among Chinese children and adolescents from 1990 to 2019. Results: The prevalence and YLDs of intellectual disability among Chinese children and adolescents in 2019 were 1 522.65 per 100 000 (95%UI: 1 228.62 per 100 000-1 817.55 per 100 000) and 109.81 per 100 000 (95%UI: 72.15 per 100 000-158.09 per 100 000), respectively, which were lower than the global average. The prevalence and YLDs of severe intellectual disability in China were slightly higher than the global average. The average annual percent changes in the prevalence and YLDs of intellectual disability among Chinese children and adolescents were -0.23% (95%CI: -0.26%--0.21%, P<0.001) and 0.74% (95%CI: 0.66%-0.81%, P<0.001) from 1990 to 2019, respectively. The prevalence and YLDs of severe intellectual disability showed continuously increasing trends over the past 30 years. Conclusions: The disease burden of intellectual disability among Chinese children and adolescents was lower than the global average in 2019, but severe intellectual disability was higher than the global average. The prevalence of intellectual disability among Chinese children and adolescents showed an overall decrease, while YLDs showed an increasing trend from 1990 to 2019.
Adolescent ; Child ; China/epidemiology* ; Cost of Illness ; Global Burden of Disease ; Global Health ; Humans ; Intellectual Disability/epidemiology* ; Prevalence ; Quality-Adjusted Life Years

prevalence antigen. Anti-PP₁P(k) alloantibody with p phenotype was identified by additional serological tests in a foreign reference laboratory. To confirm the patient's p phenotype, polymerase chain reaction and sequencing of the A4GALT gene were performed on her blood sample. She was homozygous for c.301delG in the A4GALT gene, which finally confirmed that she had the anti-PP₁P(k) antibody with p phenotype. Fortunately, her anemia caused due to iron deficiency could be treated with iron supplementation without the need for any transfusion. However, it remains extremely difficult to find compatible red blood cells in such settings in Korea. Moreover, there has been very little research on the prevalence of the p phenotype in the Korean population. Therefore, additional research is needed on rare blood group antibodies and high-prevalence antigens, including anti-PP₁P(k) cases.]]>
Anemia ; Antibodies ; Blood Transfusion ; Erythrocytes ; Female ; Humans ; Intellectual Disability ; Iron ; Isoantibodies ; Korea ; Mass Screening ; P Blood-Group System ; Phenotype ; Polymerase Chain Reaction ; Prevalence ; Rehabilitation ; Serologic Tests ; Young Adult

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located on the DNMT3A functional domains. Autosomal dominant inheritance by germ-line mutation of DNMT3A has been reported, but vertical transmission within a family is extremely rare. Herein, we report the first Korean family with maternally inherited TBRS due to the novel heterozygous DNMT3A variant c.118G>C p.(Glu40Gln), located outside the main functional domain and identified by multigene panel sequencing. The patient and her mother had typical clinical features, including tall stature during childhood, macrocephaly, intellectual disability, and characteristic facial appearance. TBRS shows milder dysmorphic features than other overgrowth syndromes, potentially leading to underdiagnosis and underestimated prevalence; thus, targeted multigene panel sequencing including DNMT3A will be a useful tool in cases of overgrowth and unexplained mild intellectual disability for early diagnosis and genetic counseling.
Early Diagnosis ; Genetic Counseling ; Germ-Line Mutation ; Growth Disorders ; High-Throughput Nucleotide Sequencing ; Humans ; Intellectual Disability ; Megalencephaly ; Mothers ; Mutation, Missense ; Prevalence ; Sequence Analysis, DNA ; Wills

On September 12, 2018, President Jae-In Moon announced the Comprehensive Plan for Lifelong Care for People with Developmental Disabilities, with representatives from the associated government branches (Ministry of Health and Welfare, Ministry of Education, and Ministry of Employment and Labor) in attendance. The goals of this plan are to provide health, medical, rehabilitative, special education, and social welfare services according to the life-stages of the affected individuals; to reduce parental pressure; to promote social interventions; and to enhance community-level participation in order to create a ‘welfare society in harmony.’ However, in order for the plan to succeed, additional efforts must be made in the following areas. First, an epidemiological survey is needed to understand the scale, prevalence, and incidence of developmental disabilities and to establish an evidence base to support policy development. Second, accurate definitions of developmental disabilities must be established in order to avoid policy discrimination based on impairment type and age. Third, personal evaluations to assess disabled individuals' unmet needs and customized service designs to deliver those needs are required. Fourth, the plan must fulfill the goals of accessibility and fairness that the government intends to provide. Fifth, the government should consider an integrated financial support system and to propose a detailed plan for monetary distributions. Finally, an integrated system that links health, medical, employment, educational, and welfare services must be constructed.
Comprehensive Health Care ; Developmental Disabilities ; Discrimination (Psychology) ; Education ; Education, Special ; Employment ; Financial Support ; Humans ; Incidence ; Intellectual Disability ; Moon ; Parents ; Policy Making ; Prevalence ; Social Welfare

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.
Databases, Genetic ; Germ-Line Mutation ; Hair ; Humans ; Hypertelorism ; Intellectual Disability ; Megalencephaly ; Prevalence ; Problem Behavior ; Seizures ; Thorax

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.
Ankle ; Ataxia ; Ataxia Telangiectasia* ; Child ; Child, Preschool ; Databases, Genetic ; Dysarthria ; Early Diagnosis ; Gait ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Insurance, Health ; Intellectual Disability ; Male ; Muscle Spasticity ; Neurodegenerative Diseases ; Prevalence* ; Republic of Korea* ; Spinocerebellar Degenerations

People with class I intellectual disability need lifelong assistance and protection from their surroundings due to impaired adaptive functioning. They have poor oral health and show higher prevalence of dental caries, periapical inflammation and tooth loss that require proper prosthetic restoration. Because removable prostheses for intellectually disabled patients often lack stability, retention, and maintenance, fixed prostheses are essential and the only available option is dental implants. In this case, a 45 year-old male patient with class I intellectual disability had poor oral hygiene with most of his teeth missing and visited the clinic to recover his masticatory function. Due to such systemic conditions, the definitive restoration of choice was the implant-supported fixed dental prosthesis made of biocompatible and highly strong monolithic zirconia. In consequence of the treatment process, the patient was able to improve his oral environment aesthetically and functionally.
Dental Caries ; Dental Implants ; Dental Prosthesis ; Humans ; Inflammation ; Intellectual Disability* ; Male ; Mouth Rehabilitation* ; Mouth* ; Oral Health ; Oral Hygiene ; Prevalence ; Prostheses and Implants ; Tooth ; Tooth Loss

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.
Child ; Female ; Gene Deletion ; Hamartoma ; Hamartoma Syndrome, Multiple* ; Humans ; Intellectual Disability ; Intestinal Polyps ; Korea ; Lipoma ; Megalencephaly ; Microarray Analysis* ; Mothers ; Phenotype ; Prevalence ; Young Adult

PURPOSE: To determine the prevalence and characteristics of neuropathic pain (NP) in patients with lumbar spinal stenosis (LSS) according to subgroup analysis of symptoms. MATERIALS AND METHODS: We prospectively enrolled subjects with LSS (n=86) who were scheduled to undergo spinal surgery. The patients were divided into two groups according to a chief complaint of radicular pain or neurogenic claudication. We measured patient's pain score using the visual analog scale (VAS), Oswestry Disability Index (ODI) and Leads Assessment of Neuropathic Symptoms and Signs (LANSS). According to LANSS value, the prevalence of NP component pain in patients with LSS was assessed. Statistical analysis was performed to find the relationship between LANSS scores and the other scores. RESULTS: From our sample of 86 patients, 31 (36.0%) had a NP component, with 24 (63.4%) in the radicular pain group having NP. However, only seven patients (15.6%) in the neurogenic claudication group had NP. The LANSS pain score was not significantly correlated with VAS scores for back pain, but did correlate with VAS scores for leg pain (R=0.73, p<0.001) and with ODI back pain scores (R=0.54, p<0.01). CONCLUSION: One-third of the patients with LSS had a NP component. The presence of radicular pain correlated strongly with NP. The severity of leg pain and ODI score were also closely related to a NP component. This data may prove useful to understanding the pain characteristics of LSS and in better designing clinical trials for NP treatment in patients with LSS.
Adult ; Aged ; Back Pain ; Decompression, Surgical ; Disability Evaluation ; Female ; Humans ; *Lumbar Vertebrae/surgery ; Male ; Middle Aged ; Neuralgia/*complications/epidemiology ; Outcome Assessment (Health Care) ; Pain Measurement/*methods ; Prevalence ; Prospective Studies ; Republic of Korea/epidemiology ; Severity of Illness Index ; Spinal Stenosis/epidemiology/*surgery ; Surveys and Questionnaires ; Treatment Outcome

PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. CONCLUSION: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Abnormalities, Multiple ; Aortic Coarctation ; Aortic Valve Stenosis ; Cause of Death ; Counseling ; Diagnosis ; Early Diagnosis ; Follow-Up Studies ; Genetic Testing ; Heart Defects, Congenital ; Heart Diseases ; Heart* ; Humans ; Hypoplastic Left Heart Syndrome ; Intellectual Disability ; Mitral Valve Stenosis ; Prevalence ; Retrospective Studies