Background: Surveys in disability are getting more and more attention from the Governments and contributes towards improve service provision for people with disabilities. Objective: To describe the prevalence of people with disabilities at The Chi Linh demographic and epidemiological surveillance system (CHILILAB), Hai Duong province in 2007. Subject and Method: The cross - cutting survey conducted in the CHILILAB which has a population of 65.438 people, the WHO questionnaire of disability screening was used. Result and conclusion: Disability prevalence in Chi Linh occurs in 28.2% of the population. It is noted that the disability prevalence increases significantly with age groups: 81.8% of those who are over 60, 58.2% those aged of 40 - 59 and only 8 - 9% of those aged under 40. In addition, the disability prevalence is higher in the rural areas, women, the poor and the illiterate. It is necessary to have more study on the prevalence of people with disabilities in wider ranges. \r\n', u'\r\n', u'\r\n', u'
Prevalence ; Disability prevalence ; Disability

The acronym CHARGE (Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities) was coined by Pagon et al. in 1981. The prevalence of CHARGE syndrome was estimated to be approximately 1/10,000 - 1/15,000. The cause of the CHARGE syndrome remains unknown but several observations support the role of genetic factors and a significantly higher paternal age at conception and several chromosomal abnormalities. The clinical spectrum of this multiple congenital anomaly and mental retardation is broad and variable, therefore the treatment of the CHARGE syndrome was not definitive and conservative. We hereby report, with reviewing other literature, a case of CHARGE syndrome diagnosed after delivery.
CHARGE Syndrome* ; Chromosome Aberrations ; Ear ; Fertilization ; Growth and Development ; Heart ; Intellectual Disability ; Nasopharynx ; Numismatics ; Paternal Age ; Prevalence

OBJECTIVES: This study was designed to assess the present conditions of the mental retardation in a rural area by identifying the prevalence, socioeconomic characteristics and combined diseases of the subjects with mental retardation. METHODS: For this survey, four regions of a rural area with total population of 17,235 persons were chosen. The surveys were divided into 2 steps. After Key Informant Research(KIR) at first survey, one psychiatric specialist, two psychiatric residents and five clinical psychologists interviewed the high risk group who had been selected in KIR. By this two-step process, final diagnosis and degree of severity were confirmed. Diagnostic criteria of Mental Retardation by DSM-IV(Diagnostic and Statistical Manual of Mental Disorders-IV), K-WAIS, Social Maturation Scale were used as diagnositc tools. RESULTS: Prevalence of Mental Retardation in survey areas was 0.42%. The prevalences in male and female were 0.37% and 0.47%, respectively, which were of no significant statistical difference. The relative ratio of each degree of mental retardation-mild, moderate, severe and profound mental retardation-was 33:47:18:3 respectively. The prevalence of moderate mental retardation was higher than that of any other degrees. By age groups, the prevalence in twenties and thirties was 0.69%, which was the highest of all age groups. The prevalence in forties and over was 0.35%, which was the lower than that of twenties and thirties(x2-18.64, p=0.00002). CONCLUSIONS: Prevalence of mental retardation in survey areas was 0.42%, which was higher than any other previous studies in Korea. The prevalence of mild mental retardation was relatively lower than that of other previous studies, which means that the key informants may not have detected the subjects with mild mental retardations who were relatively socially adaptive in rural areas, because they might have focused on the ability of social adaptation as an important feature in detecting the mental retardations. The prevalence of moderate mental retardation was 0.20%, higher than any other groups, which resulted from low rate of failure in the detection of the moderate mental retardations because of their severe deficits in social adaptation and from the higher prevalence than severe and profound mental retardation in reality. The prevalence of severe and profound mental retardation was low rate because they used to be short-lived due to combined medical illnesses and congenital anomalies. The persons with mental reatardation were in low socioeconomic status and had poor supporting systems.
Diagnosis ; Epidemiologic Studies* ; Female ; Humans ; Intellectual Disability* ; Korea ; Male ; Prevalence ; Psychology ; Social Class ; Specialization

This study investigated the prevalences of neurologic diseases - epilepsy, mental retardation, cerebral palsy, stroke, and dementia - of institutionalized persons in "Flower Village' representing 2.20/, of all institutionalized people in Korea. Overall prevalences of epilepsy, mental retardation, cerebral palsy, stroke, and dementia was 13%, 25%, 7%, 10%, and 7% respectively. Age-matched prevalences of each diseases were investigaed, too. Epilepsy, mental retardation, and cerebral palsy showed high prevalences before third decade and highly associated with each other suggesting that they share common causes. Stroke and dementia showed high prevalences after sixth decade and some of stroke caused seizures after strokes. This study may be helpful to understanding neurologic disease pattern of institutionalized people and people of low socioeconomic class in Korea and also helpful to elucidate the epidenuological relationship between eplepsy, mental retardation, and cerebral palsy.
Cerebral Palsy ; Dementia ; Epilepsy ; Institutionalization ; Intellectual Disability ; Korea ; Prevalence* ; Seizures ; Stroke

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

Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.
Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Fragile X Syndrome* ; Humans ; Incidence* ; Intellectual Disability* ; Molecular Biology ; Polymerase Chain Reaction ; Prevalence ; X Chromosome

In this chapter, epilepsy or seizure in special populations or conditions, pregnant women or those who are planning to be pregnant elderly individuals, patients with a systemic disease, and mentally retarded subjects are discussed. Pregnancy in pregnant woman is associated with increased obstetric risks and increased adverse neonatal outcomes. Effective control of maternal seizures with the least risk to the fetus is the goal. Careful planning and management of any pregnancy are essential to increase likelihood of a healthy outcome both for the mother and the baby. Some guidelines for woman with epilepsy will be introduced. The elderly are the most rapidly growing part of our population, and the prevalence of epilepsy is also rapidly increasing in this group. Age-related physiologic changes in hepatic and renal function, volume of distribution, and exaggerated sensitivity to side effects should de considered. The elderly with a systemic disease such as cardiovascular disorder and renal and hepatic failure require a more complex approach. Epilepsy is a common occurrence in individuals with mental retardation. The degree of mental retardation, associated behavioral disorders, and the type of epilepsy or epileptic syndrome can affect the treatment modality and prognosis. The treatments should be tailored to the needs of individual patients. Comprehensive management requires the involvement of an interdisciplinary team to enhance functioning and achieve optimal quality of care.
Aged ; Epilepsy* ; Female ; Fetus ; Humans ; Intellectual Disability ; Liver Failure ; Mentally Disabled Persons ; Mothers ; Pregnancy ; Pregnant Women ; Prevalence ; Prognosis ; Seizures

PURPOSE: To evaluate the ocular results and refractive errors in children with developmental delay and to determine the significance of ophthalmologic screening in children. METHODS: The present study was conducted with children who visited the development delay clinic of National Health Insurance Corporation Ilsan hospital in Goyang, Korea. Primary evaluation included external eye examination, pupil reflex, and ocular movement test with focal light, and secondary evaluation included slit-lamp examination, fundus examination, cycloplegic refraction, and lacrimal drainage test if necessary. RESULTS: Out of 89 subjects included in the study, 61.8% had ocular abnormalities other than refractive errors, and the two most common results included strabismus and epiblepharon, with occurrence rates of 24.7% and 22.5%, respectively. Among the 60 subjects who underwent cycloplegic refraction, 56.6% had refractive errors, with astigmatism (30%) being the most common. Among the 24 subjects who received treatment, four underwent surgical treatment and 20 started wearing glasses. CONCLUSIONS: The present study revealed a high prevalence of ophthalmologic abnormalities in pediatric developmental delay patients, indicating that systemic and comprehensive ophthalmic examination is necessary for these patients.
Astigmatism ; Child ; Drainage ; Eye ; Humans ; Intellectual Disability ; Korea ; Light ; Mass Screening ; National Health Programs ; Prevalence ; Pupil ; Reflex ; Refractive Errors ; Strabismus

OBJECTIVETo understand the prevalence and rehabilitation status of autism and mental retardation in China.

METHODSScreening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal.

RESULTSAmong the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service.

CONCLUSIONSThe prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.

Autistic Disorder ; epidemiology ; rehabilitation ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Intellectual Disability ; epidemiology ; rehabilitation ; Male ; Prevalence

OBJECTIVETo describe the prevalence and characteristics of mental disabilities in China.

METHODSThe data from the Second National Sample Survey on Disability were analyzed with descriptive epidemiological method and the overall prevalence rates of mental disabilities were statistically calculated.

RESULTSAmong 2 526 145 respondents, 15 155 of them more than 15 years old were diagnosed as mental disabilities, with the prevalence rate as 6.01‰. The prevalence rate of disabilities caused only by mental disorders was 4.57‰ with 11 501 more than 15 years old. The prevalence rate of disability caused only by mental disorders was 4.67‰ with 11 501 adults. Of the disability cases that exclusively caused by mental disorders, 64.58% of them were attributable to schizophrenia, schizotypal or delusional disorders, 6.28% were mood disorder, and 6.27% were epilepsy disability, followed by neurotic, stress-related and somatoform disorders (5.95%), dementia (5.19%), and other disabilities (less than 11.74%). Disabilities that attributable to schizophrenia, schizotypal and delusional disorders caused most severe impairments of functions in daily and social activities, followed by disabilities attributable to dementia, non-dementia organic mental disorder and epilepsy disability. Dementia caused the most severe grade of disability, accounted for 44.89% of all the cases. The data also showed that the disabilities attributable to mood disorder and neurotic, stress-related and somatoform disorder showed more impairments among mental disabilities.

CONCLUSIONPrevalence of mental disability in the second sample survey was higher than that of the first survey. Schizophrenia accounted for most of the mental disabilities but dementia caused the severest disability among all the cases with mental problems. As two of main causes of mental disabilities, neurosis and anxiety disorders should also be paid attention to.

Adolescent ; Adult ; China ; epidemiology ; Disabled Persons ; statistics & numerical data ; Humans ; Intellectual Disability ; epidemiology ; Mental Disorders ; epidemiology ; Middle Aged ; Prevalence