The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys.
Child ; Child, Preschool ; Fragile X Syndrome/diagnosis/epidemiology/*genetics ; Humans ; Intellectual Disability/*genetics ; Karyotyping ; Male

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

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

OBJECTIVETo investigate the current status of disabled children and prevalence of disabilities in children aged 0-6 years and their risk factors, and to provide scientific evidence for making relevant policies for disabled children.

METHODSIn a community-based cross-sectional study, multi-phase, stratified, unequal proportional and cluster sampling was adopted to survey 60 124 children aged 0-6 years. All the investigated children were screened for disabilities, and those with positive screening tests were further diagnosed by various specialties.

RESULTSA total of 819 children were diagnosed as disabled with an overall prevalence of 1.362%, 0.155% for hearing disability, 0.160% for visual disability, 0.931% for intelligent disability, 0.424% for limb disability, and 0.101% for mental disability. Prevalence of disability in children was higher in rural areas, and in families with two or more children, low educational level or in divorced families.

CONCLUSIONThe prevalence of disability can be reduced by economic development, improvement of health care and quality of population, as well as harmonious familial relationship, early prevention of disability, and preschool education for disabled children.

Blindness ; epidemiology ; Child ; Child, Preschool ; China ; epidemiology ; Disabled Persons ; Hearing Loss ; epidemiology ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; epidemiology ; Limb Deformities, Congenital ; epidemiology

INTRODUCTIONLittle is known about the sociodemographic and clinical profile of older adults with intellectual disabilities (ID) in Singapore. We studied the sociodemographic and clinical profile of older adults with ID and investigated factors associated with caregiver availability and identity in this population.

MATERIALS AND METHODSThe study population involved all adults with ID aged ≥40 years receiving services from the Movement for the Intellectually Disabled of Singapore (MINDS), the largest such provider in Singapore. Information on sociodemographic and clinical profiles, functional status, and availability of caregivers were collected via interviewer-administered questionnaires from guardians of older adults with ID. Descriptive characteristics were computed and chi-square and logistic regression identifi ed predictors of caregiver availability and identity.

RESULTSParticipation was 95% (227/239). There were differences in client age, gender, and caregiver availability between recipients of residential and non-residential services (all P <0.05). Common comorbidities included hyperlipidaemia (17.6%), hypertension (15.9%), psychiatric diagnoses (16.3%) and epilepsy (10.6%). The majority were fully independent in basic activities of daily living, but only 21.1% were fully communicative. Only a small minority (9.4%) were exercising regularly. The majority (73.5%) of clients had a primary caregiver; almost equal proportions relied on either parents or siblings. Older client age was associated independently with the lack of a primary caregiver, independent of greater functional dependence and presence of medical comorbidities in the client.

CONCLUSIONOlder adults with ID have multiple medical, functional, and social issues. More can be done to support the care of this unique group of adults with special needs.

Activities of Daily Living ; Adult ; Age Factors ; Caregivers ; classification ; statistics & numerical data ; supply & distribution ; Chi-Square Distribution ; Comorbidity ; Demography ; Epilepsy ; epidemiology ; Female ; Humans ; Hyperlipidemias ; epidemiology ; Hypertension ; epidemiology ; Intellectual Disability ; epidemiology ; physiopathology ; psychology ; therapy ; Logistic Models ; Male ; Mental Disorders ; epidemiology ; Quality of Life ; Singapore ; epidemiology ; Social Support ; Socioeconomic Factors

OBJECTIVETo explore the epidemiological status of disabilities on vision impairment (VI), hearing loss (HL), mental retardation (MR), autism spectrum disorder (ASD) and motor disorder (MD) in aged 0-6 years old children in Beijing.

METHODSA total of 28 738 children under 7 years old were recruited from permanent residents of Beijing City by 2-phase cluster sampling. The screening procedure was 2-phase, and the diagnosis criteria were developed by the experts group.

RESULTSThe overall disability rate was 11.45 per thousand (95 % CI:10.22-12.68). The false negative rates in HL and ASD were 0.14 per thousand, 0.80 per thousand, respectively, with a adjusted overall rate of 12.19per thousand. The prevalence rates of different kind disabilities from high to low were MR 9.31per thousand, MD 2.12per thousand, ASD 1.53per thousand (0.73per thousand before adjusted), HL 1.04per thousand (0.91per thousand before adjusted) VI 0.73per thousand. The results of logistic regression analysis showed that the possible non-biological risk factors for those disabilities were being male, living in city area, advancing age, mother with low education, mother engaged in labor work, and family with low income. It was primarily (49.62%) those prenatal factors other them the known suspected factors that causing disabilities.

CONCLUSIONSCompared with data from a countrywide study in 1987, the overall disability rate had a mild decrease (16.36%) with the most (56.85%) appeared in HL. It is indispensable to establish a disabilities surveillance program for the early recognition and intervention of children with disabilities. It is also crucial to clarify a disability definition for children combined with their characteristics of growth and development. We strongly recommended in developing a new definition on children' disabilities and establishing new criteria according to the contents of developmental disabilities of Center for Disease Control, USA.

Age Distribution ; Child Development Disorders, Pervasive ; epidemiology ; Child, Preschool ; China ; epidemiology ; Cross-Sectional Studies ; Disabled Children ; statistics & numerical data ; Educational Status ; Female ; Health Surveys ; Hearing Loss ; epidemiology ; Humans ; Income ; statistics & numerical data ; Infant ; Infant, Newborn ; Intellectual Disability ; epidemiology ; Male ; Motor Skills Disorders ; epidemiology ; Occupations ; statistics & numerical data ; Parents ; Risk Factors ; Sex Distribution ; Vision Disorders ; epidemiology

Intellectual disability is known to be associated with a high incidence of psychiatric co-morbidity and problem behaviours. However, there are many challenges in trying to meet the mental health needs of people with an intellectual disability, and these are often not adequately addressed in Singapore's current healthcare system. This article outlines the present service provisions for this area in the country and details the importance of, as well as difficulties in the integration of health and social care measures in service development and delivery.
Adult ; Child ; Education, Special ; Health Services Accessibility ; Health Services Needs and Demand ; Humans ; Intellectual Disability ; epidemiology ; rehabilitation ; therapy ; Intelligence Tests ; Mental Health ; Mental Health Services ; organization & administration ; Mentally Disabled Persons ; Program Development ; Quality of Health Care ; Singapore

OBJECTIVETo summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.

METHODBy a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.

RESULT(1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.

CONCLUSIONThe prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

Anticonvulsants ; therapeutic use ; Child ; Epilepsy ; complications ; drug therapy ; epidemiology ; Exons ; Genotype ; Humans ; Intellectual Disability ; etiology ; Male ; Muscular Dystrophy, Duchenne ; complications ; genetics ; Mutation ; Phenotype ; Prevalence ; Retrospective Studies ; Seizures ; Sequence Deletion

OBJECTIVE: To study the incidence rate, pattern and affective factors of mental disorder due to brain damage. METHODS: According to CCMD-2-R, 388 subjects with traumatic brain damage in the Psychiatric Hospital of Huainan city within last 5 years were assessed by three psychiatrists 6 months to 1 year after brain injury. RESULTS: (1) 74.2% of the mental disordered due to brain injury have intellectual impairment, most of them is mild; (2) The intracranial hematoma, brain stem injury, brain injury extent, GCS, complicated mental disorder, and education have great effect on intellectual impairment; (3) There is an intimate relationship between the intellectual impairment and the brain stem injury, intracranial hematoma, GCS, brain injury extent, and unconsciousness time. There is an intimate relationship between the mental symptom and the brain injury extent, contusion and laceration of brain, frontal lobe injury, and intracranial hematoma. There is also an intimate relationship between the personality change and the frontal lobe injury, unfolding brain case treatment, and intracranial hematoma. CONCLUSION To assess overall mental disorder should rely on the characteristics of craniocerebral injuries.
Adolescent ; Adult ; Aged ; Brain Injuries/complications* ; Child ; Child, Preschool ; China/epidemiology* ; Female ; Humans ; Intellectual Disability/etiology* ; Intelligence ; Logistic Models ; Male ; Mental Disorders/etiology* ; Middle Aged ; Neuropsychological Tests ; Young Adult

OBJECTIVEThis study aimed to explore the association between periconceptional fish consumption by parents and autism spectrum disorder (ASD) and intelligence deficiency (ID).

METHODSA case-control study was conducted through a questionnaire with 108 ASD cases, 79 ID cases, and 108 controls. The ASD and ID cases were students from special educational schools in Tianjin from 2012 to 2014. The age- and sex-matched controls were from a high school, three primary schools, and a kindergarten in Tianjin. Multivariate logistic regression was performed.

RESULTSPaternal habit of eating hairtail before fertilization, maternal preference for fruits during pregnancy, and maternal habit of eating grass carp during pregnancy were preventive factors for ASD. Paternal habit of drinking alcohol before fertilization was a risk factor for ID, whereas maternal preference for fruits during pregnancy and maternal habit of eating crucian carp during pregnancy were protective factors for ID.

CONCLUSIONParental fish consumption is beneficial for the prevention of ASD and ID. Meanwhile, the protective effects of fish consumption on ASD and ID differ. More attention should be paid to the combined effect of other food when eating fish.

Adolescent ; Animals ; Autism Spectrum Disorder ; epidemiology ; etiology ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Diet ; adverse effects ; Environmental Exposure ; Female ; Fishes ; Humans ; Incidence ; Intellectual Disability ; epidemiology ; etiology ; Male ; Maternal Exposure ; Paternal Exposure ; Pregnancy ; Prenatal Exposure Delayed Effects ; epidemiology ; etiology ; Risk Factors ; Species Specificity