Genetics of mental retardation

2021 ◽  
pp. 3-20
Author(s):  
И.В. Анисимова
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Research Methods ◽  
Genetic Factors ◽  
Diagnostic Methods ◽  
Google Scholar ◽  
Diagnostic Efficiency ◽  
Etiological Factors

Умственная отсталость (УО) встречается примерно у 1% населения. Нарушения интеллекта могут быть обусловлены различными этиологическими факторами. Около 40% случаев УО обусловлено генетическими причинами. Целями обзора являются отражение исторических этапов изучения природы нарушений интеллекта и оценка динамики эффективности диагностики генетических форм УО при внедрении современных методов исследований. Источники для обзора были отобраны в базах данных PubMed, Cochrane, Google Scholar и др. во временном интервале с 1972 по 2020 гг. Эффективность диагностики генетических форм УО за последние десятки лет возросла с 3,7% до 42%. Несмотря на совершенствование методов диагностики генетических форм нарушений интеллекта, в большинстве случаев этиология УО остается неясной. Mental retardation (MR) is found in about 1% of the population. Intellectual disability can be caused by various etiological factors. About 40% of cases MR are associated with genetic factors. The review aims are reflection of historical stages of studying the nature of intellectual disability and evaluation of dynamics of diagnostic efficiency of genetic forms of MR with the introduction modern research methods. The sources for the review were collected in the databases PubMed, Cochrane, Google Scholar etc. in the period from 1943 to 2020. Diagnostic efficiency of MR has increased from 3,7% to 42% over the last decades. Despite the improvement of diagnostic methods of genetic forms of intellectual disability, the etiology of MR remains unclear in most cases.

Intellectual Disability (ID)

2020 ◽  
pp. 1-12
Author(s):  
Rejani Thudalikunnil Gopalan
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Social Stigma ◽  
Developmental Period ◽  
Etiological Factors ◽  
Social Abilities ◽  
Management Techniques ◽  
Different Dimensions ◽  
The Mind

Intellectual disability (ID, also known as mental retardation) is a condition of arrested or incomplete development of the mind. ID is especially characterized by impairment of skills manifested during the developmental period, which contribute to the overall level of intelligence (i.e., cognitive, language, motor, and social abilities). The understanding about intellectual disability, mainly its features, causes and intervention has a long history. Researches on causes of intellectual disability lead to finding of multiple etiological factors which reflected well on its improved management techniques. The changes in terminology used describe intellectual disability also reflected our understanding about it different dimensions including social stigma. This chapter focused to give an overall view about its history, changes in terminology, classification, epidemiology, etiology, comorbidities, and management. Over the years, there are many changes and findings that have happened, yet many questions are unanswered related to this condition.

scholarly journals Prevalence of developmental defects of enamel among children with intellectual disability – A systematic review

2020 ◽  
Vol 3 ◽  
pp. 49-53
Author(s):  
C. S. Aarthy ◽  
P. D. Madan Kumar
Keyword(s):  
Systematic Review ◽  
Mental Retardation ◽  
Intellectual Disability ◽  
Cochrane Review ◽  
Case Series ◽  
Google Scholar ◽  
Normal Children ◽  
Developmental Defects ◽  
Enamel Defects ◽  
Developmental Defects Of Enamel

The purpose of this review was formulated with an aim to understand the prevalence of enamel defects among ID children. An identical search was performed in PubMed, Google scholar, and Cochrane review and was limited to human studies and studies written in English. Reviews, case studies, and case series were excluded from the study. A total of 56 articles were identified. In PubMed 18 articles, Google scholar 29 articles and Cochrane review nine articles were found, respectively. In this, two studies (n = 2), dealt with the developmental defects of enamel with intellectual disability (ID)/mental retardation. This systematic review suggests that developmental defects of enamel was more common in ID children than normal children. A larger number of well designed studies are, however, needed to increase the validity of the studies.

Intellectual Disability (ID)

2022 ◽  
pp. 1-12
Author(s):  
Rejani Thudalikunnil Gopalan
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Social Stigma ◽  
Developmental Period ◽  
Etiological Factors ◽  
Social Abilities ◽  
Management Techniques ◽  
Different Dimensions ◽  
The Mind

Intellectual disability (ID, also known as mental retardation) is a condition of arrested or incomplete development of the mind. ID is especially characterized by impairment of skills manifested during the developmental period, which contribute to the overall level of intelligence (i.e., cognitive, language, motor, and social abilities). The understanding about intellectual disability, mainly its features, causes and intervention has a long history. Researches on causes of intellectual disability lead to finding of multiple etiological factors which reflected well on its improved management techniques. The changes in terminology used describe intellectual disability also reflected our understanding about it different dimensions including social stigma. This chapter focused to give an overall view about its history, changes in terminology, classification, epidemiology, etiology, comorbidities, and management. Over the years, there are many changes and findings that have happened, yet many questions are unanswered related to this condition.

scholarly journals GAMBARAN KUALITAS HIDUP PADA ANAK TUNAGRAHITA : KAJIAN LITERATUR

2020 ◽  
Vol 3 (2) ◽  
pp. 12-23
Author(s):  
Ahid Nur Aini ◽  
Meira Erawati
Keyword(s):  
Quality Of Life ◽  
Mental Retardation ◽  
Intellectual Disability ◽  
Google Scholar

Anak penyandang tunagrahita memiliki tingkat intelegensi yang rendah ≤ 70 dan sering mengalami berbagai permasalahan seperti diskriminasi atau pengucilan, penolakan dari lingkungan, dan sering dianggap rendah oleh orang lain. Anak tunagrahita sering mengalami ketidakpercayaan diri dan kadang menarik diri dari lingkungan sehingga anak tunagrahita rentan memiliki tingkat kualitas hidup yang lebih rendah. Penelitian ini untuk mengetahui gambaran kualitas hidup pada anak tunagrahita melalui analisis berbagai literatur. Penelitian ini merupakan studi kajian literatur. Artikel diperoleh dari beberapa database meliputi Proquest, Pubmed, Google Scholar, Science Direct dan Springer Link dengan kata kunci quality of life/ intellectual disability/ mental retardation/ down syndrom didapatkan 4009 artikel, kemudian dilakukan penapisan terpublikasi 2010-2020 didapatkan 1887 artikel, kemudian dipersempit sesuai dengan kriteria inklusi yaitu judul, fullteks, serta berbahasa inggris didapatkan 61 artikel, dilakukan penapisan kembali sesuai topik serta responden didapatkan 10 artikel yang relevan. Hasil analisis pada 10 literatur didapatkan bahwa tingkat kualitas hidup anak tunagrahita dalam kategori rendah sampai normal. Intelegensi yang rendah berdampak pada penurunan daya ingat, sehingga anak mengalami kesulitan dalam memberikan respon dalam berkomunikasi yang menyebabkan timbulnya hambatan dalam membangun hubungan sosial. Perlu adanya dukungan kepada anak tunagrahita agar memiliki gambaran kualitas hidup yang lebih baik.  

Endobronchial Ultrasound Multimodal Imaging for the Diagnosis of Intrathoracic Lymph Nodes

Respiration ◽  
2021 ◽  
pp. 1-11
Author(s):  
Xinxin Zhi ◽  
Junxiang Chen ◽  
Lei Wang ◽  
Fangfang Xie ◽  
Xiaoxuan Zheng ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Multimodal Imaging ◽  
Single Mode ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Endobronchial Ultrasound ◽  
Diagnostic Efficiency ◽  
Validation Group ◽  
Model Group ◽  
Structure Heterogeneity

<b><i>Background:</i></b> Endobronchial ultrasound (EBUS) imaging is valuable in diagnosing intrathoracic lymph nodes (LNs), but there has been little analysis of multimodal imaging. This study aimed to comprehensively compare the diagnostic performance of single and multimodal combinations of EBUS imaging in differentiating benign and malignant intrathoracic LNs. <b><i>Methods:</i></b> Subjects from July 2018 to June 2019 were consecutively enrolled in the model group and July 2019 to August 2019 in the validation group. Sonographic features of three EBUS modes were analysed in the model group for the identification of malignant LNs from benign LNs. The validation group was used to verify the diagnostic efficiency of single and multimodal diagnostic methods built in the model group. <b><i>Results:</i></b> 373 LNs (215 malignant and 158 benign) from 335 subjects and 138 LNs (79 malignant and 59 benign) from 116 subjects were analysed in the model and validation groups, respectively. For single mode, elastography had the best diagnostic value, followed by grayscale and Doppler. The corresponding accuracies in the validation group were 83.3%, 76.8%, and 71.0%, respectively. Grayscale with elastography had the best diagnostic efficiency of multimodal methods. When at least two of the three features (absence of central hilar structure, heterogeneity, and qualitative elastography score 4–5) were positive, the sensitivity, specificity, and accuracy in the validation group were 88.6%, 78.0%, and 84.1%, respectively. <b><i>Conclusions:</i></b> In both model and validation groups, elastography performed the best in single EBUS modes, as well as grayscale combined with elastography in multimodal imaging. Elastography alone or combined with grayscale are feasible to help predict intrathoracic benign and malignant LNs.

Genetic Factors in the Etiology of Mental Retardation

1981 ◽  
Vol 12 (1) ◽  
pp. 23-36
Author(s):  
Mary A. Telfer ◽  
Henry R. Cornell
Keyword(s):  
Mental Retardation ◽  
Genetic Factors

What's in a Name?

2013 ◽  
Vol 51 (2) ◽  
pp. 113-116 ◽  
Author(s):  
Marc J. Tassé
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
World Health Organization ◽  
International Classification Of Diseases ◽  
World Health ◽  
International Consensus ◽  
The World ◽  
Classification Of Diseases ◽  
Health Organization

Abstract The World Health Organization (WHO) is in the process of developing the 11th edition of the International Classification of Diseases (ICD–11). Part of this process includes replacing mental retardation with a more acceptable term to identify the condition. The current international consensus appears to be replacing mental retardation with intellectual disability. This article briefly presents some of the issues involved in changing terminology and the constraints and conventions that are specific to the ICD.

scholarly journals Experimental Study of the Features of Moral Concepts and Moral Regulation of Behavior of Children with Intellectual Disability

2020 ◽  
Vol 9 (2) ◽  
pp. 213-228
Author(s):  
A.M. Shcherbakova ◽  
N.S. Lykova
Keyword(s):  
Experimental Study ◽  
Mental Retardation ◽  
Intellectual Disability ◽  
Moral Dilemmas ◽  
Actual Behavior ◽  
Moral Choice ◽  
Moral Regulation ◽  
Moral Position ◽  
And Behavior ◽  
Children With Intellectual Disability

The article focuses on the problem of development of moral sphere of personality of children with intellectual disability (mild mental retardation) in the context of development of their life competence. Personal outcomes are considered as one of the most important indicators of the formation of life competence. Particular attention is paid to the moral development of children with intellectual disability. The results of an experimental study of the characteristics of moral perceptions and behavior of younger students with mental retardation of 9-10 years old brought up in different conditions - family and institutional are presented. Students of a comprehensive school with a normotypic development were also involved. The sample was 76 people. A study was made of the moral position, and on this basis the prediction of one's own behavior and the behavior of others in solving moral dilemmas, as well as the actual behavior of the child in a situation of moral choice.

scholarly journals FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1780
Author(s):  
Mark Roth ◽  
Lucienne Ronco ◽  
Diego Cadavid ◽  
Blythe Durbin-Johnson ◽  
Randi J. Hagerman ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Peripheral Blood ◽  
Fragile X ◽  
Repeat Expansion ◽  
Repeat Number ◽  
Cgg Repeat ◽  
Fragile X Mental Retardation ◽  
Cgg Repeats ◽  
Fmr1 Mrna

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Mental Retardation gene, FMR1. Greater than 200 CGG repeats results in epigenetic silencing of the gene leading to the deficiency or absence of Fragile X mental retardation protein (FMRP). The loss of FMRP is considered the root cause of FXS. The relationship between neurological function and FMRP expression in peripheral blood mononuclear cells (PBMCs) has not been well established. Assays to detect and measure FMR1 and FMRP have been described; however, none are sufficiently sensitive, precise, or quantitative to properly characterize the relationships between cognitive ability and CGG repeat number, FMR1 mRNA expression, or FMRP expression measured in PBMCs. To address these limitations, two novel immunoassays were developed and optimized, an electro-chemiluminescence immunoassay and a multiparameter flow cytometry assay. Both assays were performed on PMBCs isolated from 27 study participants with FMR1 CGG repeats ranging from normal to full mutation. After correcting for methylation, a significant positive correlation between CGG repeat number and FMR1 mRNA expression levels and a significant negative correlation between FMRP levels and CGG repeat expansion was observed. Importantly, a high positive correlation was observed between intellectual quotient (IQ) and FMRP expression measured in PBMCs.

Sign in / Sign up

Export Citation Format

Share Document