1.Clinical epidemiology of mental retardation in Gia Sang precinct, Thai Nguyen province
Journal of Vietnamese Medicine 2001;263(9):26-29
A study on the clinical epidemiology and interview of 8965 persons shown that there were 44 cases of mental retardation such as language and psychomotor retardation and difficulty in learning and working. The mental retardation related significantly with the health of pregnant women (bacterial and viral infection, poor nutrition), complications in labour (premature), obstetric interventions (forceps, suffocation), impacts after birth (meningitis, encephalitis, malnutrition, defects, epilepsy, down)
Mental Retardation
;
epidemiology
2.Study of prevalence of mental retardation among children in some quarters and communes of Hue city.
Thi Thi Minh Ha ; Nhan Viet Nguyen ; Huong Thi Thanh Tran ; Bao Van Trinh
Journal of Medical Research 2007;52(5):63-68
Background: Mental retardation is a common pathological state in children, accounting for about 1 - 3%. Children with mental retardation should have a life of integrity and proper support. The discovery and assessment the children will help us to orient the education, assistance and early intervention for them at each location. Objectives: This study aimed at determining the prevalence of mental retardation (MR) among children in some quarters and communes of Hue city and the degrees of mental retardation in these children. Subjects and method: Screening by WHO questionnaire \u201cTen Question screen for disability\ufffd?and learning results (if possible) of children from 6 to under 16 years old in 5 quarters (urban) and 2 communes (rural) randomly selected in Hue. Diagnostics and evaluations are based on the criteria of ICD \ufffd?10. Results: The prevalence of MR in this study was 0.94% (95%CI = 0.82 \ufffd?1.07), 1.18% in rural area and 0.84% in urban area; 1.16% among boys and 0.70% among girls. Mild MR accounts for 62.67% moderate: 19.36%, severe: 11.52% and profound: 6.45%. Conclusion: The prevalence was statistically significant higher in rural area than in urban area and in boys than in girls. There were predominant percentages of severe and profound MR.
Mental Retardation/ epidemiology
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Prevalence
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Children
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3.Application of techniques of molecular biology in diagnosis of fragile X syndrome
Thi Thi Minh Ha ; Nhan Viet Nguyen ; Huong Thi Thanh Tran ; Loc Hoang Nguyen
Journal of Medical Research 2008;58(5):18-23
Background: Fragile X Syndrome (FXS) is the second cause of Mental Retardation (MR) and the first cause of familiar MR. This syndrome affects up to 1/4000 men and 1/8000 women. X syndrome is often diagnosed by molecular biology technique such as RCR and Southern blot. Until now there is no study on FXS in Vietnam. Objectives: This study is aimed at: (1) Determine FXS among children with MR by technique of molecular biology. (2) Determine the mutation of FMR1 gen in families having children with FXS. Subject and Method: 214 children between 6 and 16 years of age (136 male and 78 female) with MR were analyzed FMR1 gen by PCR and Southern blot techniques. Families of children with FXS were also analyzed. Result and conclusion: This is the first study on FXS using the techniques of molecular biology in Vietnam. Identified 3 children with FXS, accounting for 1.4% of MR. Children with FXS and members with full mutation and premutation were found.
Fragile X syndrome
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FMR1 gene
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Mental retardation
4.Study on some cases of mental retardation in the mental forensic examination
Journal of Practical Medicine 2002;435(11):15-16
The rate of people with mental retardation was 1% of population. There were many causes of disease but there were the same properties of the diseases. There were differences of outcomes caused by patients with mental retardation such as disorder of social order and life threatening. It should manage and prevent bad behavior that can occur to reduce or exclude their responsibilities when committing the crime according the disease level
Mental Retardation
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Angelman Syndrome
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Forensic Medicine
5.Clinical characteristics of children with mental retardation of unknown etiology in Korea.
Journal of Korean Medical Science 1999;14(2):128-132
The purpose of this study was to investigate the clinical characteristics of children with mental retardation (MR) of unknown etiology for early recognition and intervention. In this study, we defined children with MR of unknown etiology as those without clear etiologies for MR despite extensive evaluation and were not associated with pathological behavioral problems such as pervasive developmental disorders and attention-deficit/hyperactivity disorder. The clinical characteristics of children with MR of unknown etiology were as follows. 1) MR of unknown etiology was 48.8% of all MR. 2) MR of unknown etiology was more common in males. 3) Delayed language development was a leading factor that made the parents of children with MR of unknown etiology seek help from physicians. However, most of the children with MR of unknown etiology showed a relatively uniform delay in several areas of development. 4) Most children with MR of unknown etiology were delayed walkers. 5) Most children with MR of unknown etiology were mild cases.
Child
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Child, Preschool
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Female
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Human
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Korea
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Language Development Disorders
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Male
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Mental Retardation/psychology
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Mental Retardation/physiopathology*
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Mental Retardation/etiology
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Retrospective Studies
6.Separation and identification of glycoprotein in human serum of Fragile X syndrome
Anh Thi Lan Luong ; Hoan Thi Phan ; Phuong Thi Minh Nguyen ; Dung Tien Nguyen ; Chi Van Phan
Journal of Medical Research 2008;59(6):22-28
Background: Fragile X Syndrome (FXS) is the most common cause of inherited mental retardation. The absence of Fragile X Mental Retardation (FMRP) in Fragile X syndrome changes other proteins. Objective: To detect changes of glycoprotein in human serum of Fragile X syndrome. Subject and methods: Affinity chromatography with lectin concanavalin A (ConA) used to receive glycoprotein. The collected glycoprotein was then separated using 2-D electrophoresis. The protein spots were further excised, trypsin digested, and analyzed by nano LC couple with ESI-MS/MS and identified by MASCOT v1.8 software. Results and conclusion: 5 glycoproteins showed the different expression levels in the serum of Fragile X syndrome. Haptoglobin, Ig-J were increased and ceruloplasmin, transferring, Ig kappa were decreased. Using affinity chromatography with lectin concanavalin A (ConA), glycoprotein was received and divided on 2 ways electrokinetic chromatography. The mixture protein was identified with a reliability of 99.5% by 2 ways liquid chromatography combined with continuous spectrum mass.
Fragile X syndrome
;
Fragile X Mental Retardation
;
proteomics
7.Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome.
Chen JIANG ; Nan PAN ; Weigang LYU ; Ying PENG ; Jing LIU ; Ruolan GUO ; Jiazhen CHANG ; Desheng LIANG ; Lingqian WU
Chinese Journal of Medical Genetics 2019;36(4):340-343
OBJECTIVE:
To explore the genetic basis for a pedigree affected with X-linked mental retardation.
METHODS:
The proband was subjected to chromosomal karyotyping, FMR1 mutation testing and copy number variation analysis with a single nucleotide polymorphism microarray (SNP array). His family members were subjected to multiplex ligation-dependent probe amplification (MLPA) assaying. Expression of genes within the repeated region were analyzed.
RESULTS:
The proband had a normal chromosomal karyotype and normal number of CGG repeats within the FMR1 gene. SNP array identified a 370 kb duplication in Xq28 (ChrX: 153 027 633-153 398 515), which encompassed 14 genes including MECP2. The patient was diagnosed as Lubs X-linked mental retardation syndrome (MRXSL). MLPA confirmed the presence of copy number variation, its co-segregation with the disease, in addition with the carrier status of females. Genes from the duplicated region showed higher levels of expression (1.79 to 5.38 folds) within peripheral blood nucleated cells of the proband.
CONCLUSION
The patients were diagnosed with MRXSL. The expression of affected genes was up-regulated due to the duplication. Genetic counseling and prenatal diagnosis may be provided based on the results.
DNA Copy Number Variations
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Female
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Fragile X Mental Retardation Protein
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Humans
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Mental Retardation, X-Linked
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Methyl-CpG-Binding Protein 2
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Pedigree
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Pregnancy
8.The Prevalence of Mental Retardation Among Third Grade Elementary School Children in the Suwon Area, Korea.
Shin Young YIM ; Hyun Hee YU ; Il Yung LEE
Journal of Korean Medical Science 2002;17(1):86-90
The purpose of this study was to estimate the prevalence of mental retardation (MR) in Korea. The study population comprised 1,757 third-grade elementary school children residing in a single school district in Suwon, Korea. We conducted the total population survey for 1,537 children who attended one of 5 schools in the district. For the remaining 220 children who did not attend a school in the school district, we found children with MR via inspection of the register list of the disabled. A total of 16 children (7 of the 1,537 children and 9 of the 220 children) were found to have MR, yielding a prevalence of MR of 9.1/1,000. Considering that about 60% of the people with disabilities are registered in Korea, there would be at least 6 unregistered children with MR among the 220 children, so that the prevalence of MR can be estimated at 12.5/1,000 for the Suwon area.
Child
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Female
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Humans
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Intelligence Tests
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Korea/epidemiology
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Male
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Mental Retardation/*epidemiology
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Prevalence
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Schools
9.Progress of MECP2 duplication syndrome.
Chinese Journal of Pediatrics 2015;53(10):792-795
10.Progress in molecular diagnosis of fragile X syndrome.
Xiao-yan GUO ; Juan LIAO ; Feng-hua LAN
Chinese Journal of Medical Genetics 2012;29(3):296-299
Fragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS). Its product, fragile X mental retardation protein, is closely involved with development of brain and neurons. PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS. In this article, the progress in the molecular diagnosis of FXS is reviewed.
Fragile X Mental Retardation Protein
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genetics
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Fragile X Syndrome
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diagnosis
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genetics
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Humans
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Pathology, Molecular
;
methods