Multifarious Functions of the Fragile X Mental Retardation Protein.

Science.gov (United States)

Davis, Jenna K; Broadie, Kendal

2017-10-01

Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results from the loss of Fragile X mental retardation protein (FMRP). This neurodevelopmental disease state exhibits neural circuit hyperconnectivity and hyperexcitability. Canonically, FMRP functions as an mRNA-binding translation suppressor, but recent findings have enormously expanded its proposed roles. Although connections between burgeoning FMRP functions remain unknown, recent advances have extended understanding of its involvement in RNA, channel, and protein binding that modulate calcium signaling, activity-dependent critical period development, and the excitation-inhibition (E/I) neural circuitry balance. In this review, we contextualize 3 years of FXS model research. Future directions extrapolated from recent advances focus on discovering links between FMRP roles to determine whether FMRP has a multitude of unrelated functions or whether combinatorial mechanisms can explain its multifaceted existence. Copyright © 2017 Elsevier Ltd. All rights reserved.

Evaluation of Inheritance Pattern in Mentally Retarded Children

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F Behnaz

2011-07-01

Full Text Available Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city. Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd city were reviewed. Results: Of the total, 62.8% of the parents had consanguineous marriage. Mean inbreeding coefficient of offsprings was 0.0713 in third degree related parents versus 0.0156 in non-related parents. Mental retardation was seen in 43.4% of first– degree relatives of children (6.6% of parents and 36.8% of siblings, respectively. Frequency of mental retardation did not differ significantly in both sexes. Pedigree showed inheritance pattern in 43.4% of patients (autosomal recessive, autosomal dominant and x-linked inheritance pattern were seen in 33.75%, 6.9% and 2.8%, respectively, while 37% of patients had no definite inheritance pattern. Abnormal karyotype were seen in 19.4% of patients, 28 of whom(8.75% of all patients had Down syndrome. The prevalence of autosomal recessive inheritance in patients with consanguineous marriages and non family marriages was 62.8 % and 10%, respectively (P=0. 002. Conclusion: Since multiple cases of mental retardation were seen in families and rate of consanguineous marriage was more in parents of mentally retarded children, genetic counseling in consanguinity marriages and families of mentally retarded children can prevent incidence of mental retardation in these families.

Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

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Gedeon, A.K.; Connor, J.M.; Mulley, J.C. [Univ. of Adelaide (Australia); Connor, J.M. [Duncan Guthrie Inst. of Medical Genetics, Yorkhill (United Kingdom); Glass, I.A. [Univ. of California, San Franciso, CA (United States)

1996-07-12

A large family with non-specific X-linked mental retardation (MRX) was first described in 1991, with a suggestion of linkage to Xq26-27. The maximum lod score was 1.60 ({theta} = 0.10) with the F9 locus. The localization of this MRX gene has now been established by linkage to microsatellite markers. Peak pairwise lod scores of 4.02 and 4.01 ({theta} = 0.00) were attained at the DXS1114 and DXS994 loci respectively. This MRX gene is now designated MRX27 and is localized to Xq24-26 by recombination events detected by DXS424 and DXS102. This regional localization spans 26.2 cM on the genetic background map and defines another distinct MRX interval by linkage to a specific region of the X chromosome. 25 refs., 1 fig., 1 tab.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

NARCIS (Netherlands)

Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; Bokhoven, J.H.L.M. van; Brouwer, A.; Esch, H. van; Froyen, G.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.C.

2007-01-01

The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

Science.gov (United States)

Tabet, Ricardos; Moutin, Enora; Becker, Jérôme A J; Heintz, Dimitri; Fouillen, Laetitia; Flatter, Eric; Krężel, Wojciech; Alunni, Violaine; Koebel, Pascale; Dembélé, Doulaye; Tassone, Flora; Bardoni, Barbara; Mandel, Jean-Louis; Vitale, Nicolas; Muller, Dominique; Le Merrer, Julie; Moine, Hervé

2016-06-28

Fragile X syndrome (FXS) is caused by the absence of the Fragile X Mental Retardation Protein (FMRP) in neurons. In the mouse, the lack of FMRP is associated with an excessive translation of hundreds of neuronal proteins, notably including postsynaptic proteins. This local protein synthesis deregulation is proposed to underlie the observed defects of glutamatergic synapse maturation and function and to affect preferentially the hundreds of mRNA species that were reported to bind to FMRP. How FMRP impacts synaptic protein translation and which mRNAs are most important for the pathology remain unclear. Here we show by cross-linking immunoprecipitation in cortical neurons that FMRP is mostly associated with one unique mRNA: diacylglycerol kinase kappa (Dgkκ), a master regulator that controls the switch between diacylglycerol and phosphatidic acid signaling pathways. The absence of FMRP in neurons abolishes group 1 metabotropic glutamate receptor-dependent DGK activity combined with a loss of Dgkκ expression. The reduction of Dgkκ in neurons is sufficient to cause dendritic spine abnormalities, synaptic plasticity alterations, and behavior disorders similar to those observed in the FXS mouse model. Overexpression of Dgkκ in neurons is able to rescue the dendritic spine defects of the Fragile X Mental Retardation 1 gene KO neurons. Together, these data suggest that Dgkκ deregulation contributes to FXS pathology and support a model where FMRP, by controlling the translation of Dgkκ, indirectly controls synaptic proteins translation and membrane properties by impacting lipid signaling in dendritic spine.

The Fragile X Mental Retardation Protein, FMRP, Recognizes G-Quartets

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Darnell, Jennifer C.; Warren, Stephen T.; Darnell, Robert B.

2004-01-01

Fragile X mental retardation is a disease caused by the loss of function of a single RNA-binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior. Recent evidence suggests that one of the predominant RNA motifs recognized by the FMRP…

Fragile X mental retardation protein participates in non-coding RNA pathways.

Science.gov (United States)

Li, En-Hui; Zhao, Xin; Zhang, Ce; Liu, Wei

2018-02-20

Fragile X syndrome is one of the most common forms of inherited intellectual disability. It is caused by mutations of the Fragile X mental retardation 1(FMR1) gene, resulting in either the loss or abnormal expression of the Fragile X mental retardation protein (FMRP). Recent research showed that FMRP participates in non-coding RNA pathways and plays various important roles in physiology, thereby extending our knowledge of the pathogenesis of the Fragile X syndrome. Initial studies showed that the Drosophila FMRP participates in siRNA and miRNA pathways by interacting with Dicer, Ago1 and Ago2, involved in neural activity and the fate determination of the germline stem cells. Subsequent studies showed that the Drosophila FMRP participates in piRNA pathway by interacting with Aub, Ago1 and Piwi in the maintenance of normal chromatin structures and genomic stability. More recent studies showed that FMRP is associated with lncRNA pathway, suggesting a potential role for the involvement in the clinical manifestations. In this review, we summarize the novel findings and explore the relationship between FMRP and non-coding RNA pathways, particularly the piRNA pathway, thereby providing critical insights on the molecular pathogenesis of Fragile X syndrome, and potential translational applications in clinical management of the disease.

The fragile X mental retardation protein has nucleic acid chaperone properties.

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Gabus, Caroline; Mazroui, Rachid; Tremblay, Sandra; Khandjian, Edouard W; Darlix, Jean-Luc

2004-01-01

The fragile X syndrome is the most common cause of inherited mental retardation resulting from the absence of the fragile X mental retardation protein (FMRP). FMRP contains two K-homology (KH) domains and one RGG box that are landmarks characteristic of RNA-binding proteins. In agreement with this, FMRP associates with messenger ribonucleoparticles (mRNPs) within actively translating ribosomes, and is thought to regulate translation of target mRNAs, including its own transcript. To investigate whether FMRP might chaperone nucleic acid folding and hybridization, we analysed the annealing and strand exchange activities of DNA oligonucleotides and the enhancement of ribozyme-directed RNA substrate cleavage by FMRP and deleted variants relative to canonical nucleic acid chaperones, such as the cellular YB-1/p50 protein and the retroviral nucleocapsid protein HIV-1 NCp7. FMRP was found to possess all the properties of a potent nucleic acid chaperone, requiring the KH motifs and RGG box for optimal activity. These findings suggest that FMRP may regulate translation by acting on RNA-RNA interactions and thus on the structural status of mRNAs.

A clinical study of mentally retarded children with fragile X syndrome inSaudi Arabia

International Nuclear Information System (INIS)

Al-Husain, M.; Salih, Mustafa A.M.; Zaki, Osama K.; Al-Othman, L.; Al-Nasser, Mohammed N.

2000-01-01

Studies on fragile X syndrome are scarce in Saudi Arabia and othercountries of the Arabian Peninsula. The few studies previously done haveeither been in the form of case reports or those performed oninstitutionalized mentally retarded patients. The aim of this study was todetermine the prevalence of fragile X syndrome among cases with mentalretardation who have been referred to the pediatric neurology clinics of KingKhalid University Hospital (KKUH) in Riyadh. Cytogenetic studies wereperformed in 94 cases that were referred to the pediatric neurology clinicsof KKUH because of mental retardation and/or delayed milestones ofdevelopment, from July 1995 to December 1997. Six male probands (6.4%) showedthe classic fragile X chromosome and another six (including a four year oldgirl) were detected, following extension of the cytogenetic studies to all 32first-degree relatives. Affection of more than one sibling was ascertained infour families. One family had four brothers with fragile X syndrome, whereasanother formed part of a large kindred with twelve males and five females whowere mentally retarded. A clinical, physical and psychological screeningchecklist was applied to the eleven affected males. Large testicular size,long face and short attention span were the most frequent features and eachwas detected in nine patients (82%). Pes planus and history of delayed speechwere found in eight patients (73%). The study showed that the fragile Xsyndrome clinical screening checklist has been applied in other populationsmight equally valuable and applicable among the population of Saudi Arabia.However, the presence of pale blue eyes can be excluded and more weight givento positive family history of mental to the most common clinical diagnosticfeatures of fragile X syndrome. (author)

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.

Science.gov (United States)

Bertani, Ilaria; Rusconi, Laura; Bolognese, Fabrizio; Forlani, Greta; Conca, Barbara; De Monte, Lucia; Badaracco, Gianfranco; Landsberger, Nicoletta; Kilstrup-Nielsen, Charlotte

2006-10-20

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. Disease-causing mutations are distributed in both the catalytic domain and in the large COOH terminus. In this report, we examine the functional consequences of some Rett mutations of CDKL5 together with some synthetically designed derivatives useful to underline the functional domains of the protein. The mutated CDKL5 derivatives have been subjected to in vitro kinase assays and analyzed for phosphorylation of the TEY (Thr-Glu-Tyr) motif within the activation loop, their subcellular localization, and the capacity of CDKL5 to interact with itself. Whereas wild-type CDKL5 autophosphorylates and mediates the phosphorylation of the methyl-CpG-binding protein 2 (MeCP2) in vitro, Rett-mutated proteins show both impaired and increased catalytic activity suggesting that a tight regulation of CDKL5 is required for correct brain functions. Furthermore, we show that CDKL5 can self-associate and mediate the phosphorylation of its own TEY (Thr-Glu-Tyr) motif. Eventually, we show that the COOH terminus regulates CDKL5 properties; in particular, it negatively influences the catalytic activity and is required for its proper sub-nuclear localization. We propose a model in which CDKL5 phosphorylation is required for its entrance into the nucleus whereas a portion of the COOH-terminal domain is responsible for a stable residency in this cellular compartment probably through protein-protein interactions.

FMR1 Knockout mice: A model to study fragile X mental retardation

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Oostra, B.A.; Bakker, C.E.; Reyniers, E. [Erasmus Univ., Rotterdam (Netherlands)] [and others

1994-09-01

The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence of 1 in 1250 males and 1 in 2500 females. The clinical syndrome includes moderate to severe mental retardation, autistic behavior, macroorchidism, and facial features, such as long face with mandibular prognathism and large, everted ears. The molecular basis for this disease is a large expansion of a triplet repeat (CGG){sub n} in the 5{prime} untranslated region of the FMR1 gene. Due to this large expansion of the CGG repeat, the promoter region becomes methylated and the FMR1 gene is subsequently silenced. Hardly anything is known about the physiologic function of FMR1 and the pathologic mechanisms leading to these symptoms. Since the FMR1 gene is highly conserved in the mouse, we used the mouse to design a knockout model for the fragile X syndrome. These knockout mice lacking Fmrp have normal litter size suggesting that FMR1 is not essential in human gametogenesis and embryonic development. The knockout mice show the abnormalities also seen in the affected organs of human patients. Mutant mice show a gradual development through time of macroorchidism. In the knockout mice we observed cognitive defects in the form of deficits in learning (as shown by the hidden platform Morris water maze task) and behavioral abnormalities such as increased exploratory behavior and hyperactivity. Therefore this knockout mouse may serve as a valuable tool in studying the role of FMR1 in the fragile X syndrome and may serve as a model to elucidate the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.

Retardo mental Mental retardation

Directory of Open Access Journals (Sweden)

Marcio M. Vasconcelos

2004-04-01

Full Text Available OBJETIVO: Esta revisão aborda as recentes descobertas da neurobiologia do retardo mental, enfatizando os novos recursos da citogenética, das técnicas moleculares e da neurorradiologia para esclarecer o diagnóstico. FONTES DE DADOS: O autor pesquisou o banco de dados MEDLINE da National Library of Medicine utilizando as palavras-chave "mental retardation", "developmental disability", "child" e "adolescent" em diferentes combinações, abrangendo o período de janeiro de 2000 a outubro de 2003. Também foram utilizados os bancos de dados das revistas científicas Pediatrics e New England Journal of Medicine através da palavra-chave "mental retardation". No total, o autor consultou cerca de 1.500 títulos de artigos e 500 resumos, e teve acesso direto a 150 artigos completos pertinentes. Quando oportuno, algumas referências dos artigos consultados também foram consideradas. O site Online Mendelian Inheritance in Man foi utilizado como fonte de informações em genética clínica. SÍNTESE DOS DADOS: Em outubro de 2003, o total de síndromes genéticas associadas a retardo mental chegou a 1.149. Considerando-se o conjunto das causas genéticas ou ambientais e congênitas ou adquiridas de retardo mental, a avaliação diagnóstica atual é capaz de esclarecer a etiologia em 50 a 70% dos casos. CONCLUSÕES: O autor sugere uma avaliação diagnóstica do retardo mental em etapas lógicas, visando ao uso racional dos dispendiosos recursos da citogenética, biologia molecular e neuroimagem.OBJECTIVE: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging. SOURCES OF DATA: MEDLINE (January 2000 through October 2003, using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome

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Iwase, Shigeki; Xiang, Bin; Ghosh, Sharmistha; Ren, Ting; Lewis, Peter W.; Cochrane, Jesse C.; Allis, C. David; Picketts, David J.; Patel, Dinshaw J.; Li, Haitao; Shi, Yang (Harvard-Med); (Ottawa Hosp.); (MSKCC); (Rockefeller); (CH-Boston); (Tsinghua); (Mass. Gen. Hosp.)

2011-07-19

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

ATRX ADD Domain Links an Atypical Histone Methylation Recognition Mechanism to Human Mental-Retardation Syndrome

Energy Technology Data Exchange (ETDEWEB)

S Iwase; B Xiang; S Ghosh; T Ren; P Lewis; J Cochrane; C Allis; D Picketts; D Patel; et al.

2011-12-31

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at pericentromeric heterochromatin; thus, we have discovered a unique histone-recognition mechanism underlying the ATR-X etiology.

Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells.

Directory of Open Access Journals (Sweden)

Yuping Luo

2010-04-01

Full Text Available Fragile X syndrome (FXS, the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP. FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs. Adult neurogenesis, a process considered important for neuroplasticity and memory, is regulated at multiple molecular levels. In this study, we investigated whether Fmrp deficiency affects adult neurogenesis. We show that in a mouse model of fragile X syndrome, adult neurogenesis is indeed altered. The loss of Fmrp increases the proliferation and alters the fate specification of adult neural progenitor/stem cells (aNPCs. We demonstrate that Fmrp regulates the protein expression of several components critical for aNPC function, including CDK4 and GSK3beta. Dysregulation of GSK3beta led to reduced Wnt signaling pathway activity, which altered the expression of neurogenin1 and the fate specification of aNPCs. These data unveil a novel regulatory role for Fmrp and translational regulation in adult neurogenesis.

Muscle Fatigue during Intermittent Exercise in Individuals with Mental Retardation

Science.gov (United States)

Zafeiridis, Andreas; Giagazoglou, Paraskevi; Dipla, Konstantina; Salonikidis, Konstantinos; Karra, Chrisanthi; Kellis, Eleftherios

2010-01-01

This study examined fatigue profile during intermittent exercise in 10 men with mild to moderate mental retardation (MR) and 10 men without mental retardation (C). They performed 4 x 30 s maximal knee extensions and flexions with 1-min rest on an isokinetic dynamometer. Peak torque of flexors (PTFL) and extensors (PTEX), total work (TW), and…

A Trial of Metformin in Individuals With Fragile X Syndrome

Science.gov (United States)

2018-04-10

Fragile X Syndrome; Fragile X Mental Retardation Syndrome; Mental Retardation, X Linked; Genetic Diseases, X-Linked; Trinucleotide Repeat Expansion; Fra(X) Syndrome; Intellectual Disability; FXS; Neurobehavioral Manifestations; Sex Chromosome Disorders

AUTISTIC FEATURES IN CHILDREN WITH MENTAL RETARDATION

Science.gov (United States)

Kar, Nilamadhab; Khanna, Rakesh; Kar, Gopal Chandra

1997-01-01

Most of the autistic disorder patients are also mentally retarded and many mentally retarded persons exhibit autistic symptoms. By using a standard instrument (Ritvo-Freeman Real Life Rating Scale) the autistic features of the mentally retarded children were studied. The study also examined the influence of age, sex and level of mental retardation on the occurrence of autistic symptoms. Children who came for consultation to child psychiatric unit were compared with those at a school for children with mental retardation receiving stimulation. Male children from child psychiatric unit had significantly higher scores than those from the school. Social and language impairment could be reliably identified and grouped. It was possible to diagnose the syndrome of autism in children with mental retardation in a significant number (9.6%)as compared to that was possible only clinically (1.9%). More number of children with severe/ profound mental retardation could be diagnosed as autistic. The autistic syndrome in children with mental retardation can be picked up more effectively by the use of structured instrument. PMID:21584097

Deletion of PTEN Produces Deficits in Conditioned Fear and Increases Fragile X Mental Retardation Protein

Science.gov (United States)

Lugo, Joaquin N.; Smith, Gregory D.; Morrison, Jessica B.; White, Jessika

2013-01-01

The phosphatase and tensin homolog detected on chromosome 10 (PTEN) gene product modulates activation of the phosphatidylinositol 3-kinase (PI3K)/AKT pathway. The PI3K pathway has been found to be involved in the regulation of the fragile X mental retardation protein, which is important for long-term depression and in the formation of new…

Fragile X mental retardation protein controls ion channel expression and activity.

Science.gov (United States)

Ferron, Laurent

2016-10-15

Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome, the most common cause of inherited intellectual disability and autism. FMRP is an RNA-binding protein involved in the control of local translation, which has pleiotropic effects, in particular on synaptic function. Analysis of the brain FMRP transcriptome has revealed hundreds of potential mRNA targets encoding postsynaptic and presynaptic proteins, including a number of ion channels. FMRP has been confirmed to bind voltage-gated potassium channels (K v 3.1 and K v 4.2) mRNAs and regulates their expression in somatodendritic compartments of neurons. Recent studies have uncovered a number of additional roles for FMRP besides RNA regulation. FMRP was shown to directly interact with, and modulate, a number of ion channel complexes. The sodium-activated potassium (Slack) channel was the first ion channel shown to directly interact with FMRP; this interaction alters the single-channel properties of the Slack channel. FMRP was also shown to interact with the auxiliary β4 subunit of the calcium-activated potassium (BK) channel; this interaction increases calcium-dependent activation of the BK channel. More recently, FMRP was shown to directly interact with the voltage-gated calcium channel, Ca v 2.2, and reduce its trafficking to the plasma membrane. Studies performed on animal models of fragile X syndrome have revealed links between modifications of ion channel activity and changes in neuronal excitability, suggesting that these modifications could contribute to the phenotypes observed in patients with fragile X-associated disorders. © 2016 The Authors. The Journal of Physiology © 2016 The Physiological Society.

Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis.

Science.gov (United States)

Ali, Zafar; Babar, Masroor Ellahi; Ahmad, Jamil; Yousaf, Muhammad Zubair; Asif, Muhammad; Shah, Sajjad Ali

2011-05-01

The present study was carried out to determine the prevalence of families having mental retardation in Pakistani population. We enrolled seven mentally retarded (MR) families with two or more affected individuals. Family history was taken to minimize the chances of other abnormalities. Pedigrees were drawn using the Cyrillic software (version 2.1). The structure of pedigrees shows that all the marriages are consanguineous and the families have recessive mode of inheritance. All the families were studied by linkage analysis to mental retardation locus (MRT1)/gene PRSS12. Three STR markers (D4S191, D4S2392, and D4S3024) in vicinity of mental retardation (MR) locus (MRT1)/gene PRSS12 were amplified on all the sample of each family by PCR. The PCR products were then genotyped on non denaturing polyacrylamide gel electrophoresis (PAGE). The Haplotype were constructed to determine the pattern of inheritance and also to determine that a family was linked or unlinked to gene PRSS12. One out of the seven families was potentially linked to gene PRSS12, while the other six families remain unlinked.

CT findings of mentally retarded patients

International Nuclear Information System (INIS)

Mikami, Akihiro; Watanabe, Hiroshi

1984-01-01

Cranial CT findings were compared according to the age group in 192 mentally retarded patients aged from 15 to 59 years and in 132 control subjects. Enlargement of the ventricles, cisterns or fissures was judged. The incidence of ''enlargement'' was higher, irrespective of age, in mentally retarded group than in the control group. When the mentally retarded patients were divided into the group with pathologic symptoms and the group without them, the incidence of ''enlargement'' was higher in the former group than in the control group, but there was no significant difference between the latter group and the control group. There was no consistent relationship between the degree of mental retardation and the incidence of ''enlargement''. Many of the mentally retarded patients with pathologic symptoms tended to have a wide range of enlargement, while many of the patients without them had narrowed lateral ventricle. (Namekawa, K.)

Mental Retardation and Parenting Stress

Directory of Open Access Journals (Sweden)

Eleni Siamaga

2011-01-01

Full Text Available Backround: The presence, upbringing and looking after of a mentally retarded child in the family, can become a threat to the mental health of its parents and is the main predisposing factor of stress for the parents.Aim: The purpose of this systematic review is (a to document the contemporary research bibliography related to the stress of parents with mentally retarded children, (b to aggregate the factors and secondary parameters based on the contemporary research related to the influence of the (child’s mental retardation on the parents and (c to show an intercultural aspect regarding the presence of stress to parents with mentally retarded children.Methods: Systematic review of research articles published in scientific journals included in the international academic databases HEAL-LING, SAGE, ELSEVIER, WILSON, SCIENCEDIRECT, MEDLINE, PUBMED, PsycINFO, Cochrane, EMBASE, SCIRUS and CINAHL having as search criteria and key words the terms («parental stress and mental retardation» [MeSH], «parenting stress and persons with special needs» [MeSH], «mental retardation and family problems» [MeSH], «stress and parents» [MeSH], «parenting and stress» [MeSH], «mental delay and parents» [MeSH], «developmental disabilities and family stress» [MeSH], «intellectual handicap and parenting» [MeSH], «maternal stress and child with disabilities» [MeSH].Discussion: The review has proven that all forms of mental retardation have an important -from a statistic point of viewimpacton the parents’ mental health. Anxiety, stress and depression are common symptoms mentioned by the parents.Additionally, there are individual variables such as the husband-wife relationship, the parents’ approach to their child’s disability, the parental strategies used in order to cope with the daily life of the child’s disability and the behavioural problems of their child, all of which contribute to the increase of the level of parental stress

Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density

Science.gov (United States)

Ferron, Laurent; Nieto-Rostro, Manuela; Cassidy, John S.; Dolphin, Annette C.

2014-04-01

Fragile X syndrome (FXS), the most common heritable form of mental retardation, is characterized by synaptic dysfunction. Synaptic transmission depends critically on presynaptic calcium entry via voltage-gated calcium (CaV) channels. Here we show that the functional expression of neuronal N-type CaV channels (CaV2.2) is regulated by fragile X mental retardation protein (FMRP). We find that FMRP knockdown in dorsal root ganglion neurons increases CaV channel density in somata and in presynaptic terminals. We then show that FMRP controls CaV2.2 surface expression by targeting the channels to the proteasome for degradation. The interaction between FMRP and CaV2.2 occurs between the carboxy-terminal domain of FMRP and domains of CaV2.2 known to interact with the neurotransmitter release machinery. Finally, we show that FMRP controls synaptic exocytosis via CaV2.2 channels. Our data indicate that FMRP is a potent regulator of presynaptic activity, and its loss is likely to contribute to synaptic dysfunction in FXS.

Mental Retardation; Its Social Context and Social Consequences.

Science.gov (United States)

Farber, Bernard

Concerned with mental retardation as a social product, the following topics are discussed: mental retardation as a social phenomenon, the concept of the retarded as surplus population, labeling and incompetence in relation to life chances, mental retardation as deviance and as incompetence, and findings on the prevalence of retardation in the…

People with Mental Retardation Are Dying, Legally.

Science.gov (United States)

Keyes, Denis; And Others

1997-01-01

Criticizes the institution of the death penalty for convicted criminals with mental retardation. Examples are given of cases in which juries were not told of the defendant's mental retardation before sentencing, and a list of defendants with mental retardation that have been executed since 1976 is provided. (CR)

Orthognathic surgery for mentally retarded patients

NARCIS (Netherlands)

Becking, A. G.; Tuinzing, D. B.

1991-01-01

The surgical treatment of mentally retarded children for esthetic reasons is discussed. In mentally retarded adults a facial deformity can give rise to functional problems; in some cases a facial deformity can stigmatize the mental state. In selected cases orthognathic surgery may offer a solution

Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

Directory of Open Access Journals (Sweden)

Ruqaiah Altassan

2018-06-01

Full Text Available Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS. This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, confirming the seventh GPI biogenesis gene linked to HPMRS. Two siblings presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase. We identified two heterozygous mutations in the PIGL gene (P.Trp20Ter and p.Arg88Cys. PIGL mutations have been linked to another distinctive neuroectodermal disorder: CHIME syndrome. The clinical picture of our patients expands the spectrum of PIGL-related phenotypes. Keywords: GPI biogenesis, Hyperphosphatasia mental retardation syndrome (HPMRS, Mabry syndrome, PIGL gene, CHIME syndrome

Radiation and mental retardation

International Nuclear Information System (INIS)

Pochin, E.E.

1988-01-01

A brief article discusses mental retardation in children who had been exposed to ionizing radiation in utero. The time of greatest sensitivity is between the 8th and 15th week after conception and the time of lesser sensitivity between the 16th and 25th weeks. An examination of the thresholds for exposure indicate that severe mental retardation would not result from any present environmental exposures of the public. (U.K.)

CASE REPORT OF A MENTALLY RETARDED CHILD

Directory of Open Access Journals (Sweden)

Vasilka GALEVSKA

2006-06-01

Full Text Available Mental retardation is a complex individual and social problem. According to WHO, around 1-3 % of world population are mentally retarded people and the percentage between school children is around 2 %.The development of a mentally retarded child depends on factors related to the disability itself, all the limitations and characteristics which results from that. But, physical, psychical, educational and social development of a mentally retarded child, also, depend on other conditions, such as the family and the wider environment, their reactions, attitudes, awareness and sensitivity for special needs of the child, as well as their preparedness and possibilities to respond.At the same time, it is necessary that the mentally retarded child is detected and diagnosed in time, as well as the early start of an adequate treatment.

Intrauterine radiation exposures and mental retardation

International Nuclear Information System (INIS)

Miller, R.W.

1988-01-01

Small head size and mental retardation have been known as effects of intrauterine exposure to ionizing radiation since the 1920s. In the 1950s, studies of Japanese atomic-bomb survivors revealed that at 4-17 wk of gestation, the greater the dose, the smaller the brain (and head size), and that beginning at 0.5 Gy (50 rad) in Hiroshima, mental retardation increased in frequency with increasing dose. No other excess of birth defects was observed. Otake and Schull (1984) pointed out that the period of susceptibility to mental retardation coincided with that for proliferation and migration of neuronal elements from near the cerebral ventricles to the cortex. Mental retardation could be the result of interference with this process. Their analysis indicated that exposures at 8-15 wk to 0.01-0.02 Gy (1-2 rad) doubled the frequency of severe mental retardation. This estimate was based on small numbers of mentally retarded atomic-bomb survivors. Although nuclear accidents have occurred recently, new cases will hopefully be too rare to provide further information about the risk of mental retardation. It may be possible, however, to learn about lesser impairment. New psychometric tests may be helpful in detecting subtle deficits in intelligence or neurodevelopmental function. One such test is PEERAMID, which is being used in schools to identify learning disabilities due, for example, to deficits in attention, short- or long-term memory, or in sequencing information. This and other tests could be applied in evaluating survivors of intrauterine exposure to various doses of ionizing radiation. The results could change our understanding of the safety of low-dose exposures

Analysis of trace elements in scalp hair of mentally retarded children

International Nuclear Information System (INIS)

Man, C.K.; Zheng, Y.H.

2002-01-01

Hair samples of mildly mentally retarded (LR), moderately mentally retarded (MR), severely mentally retarded (SR) and normal children were collected and measured, using neutron activation analysis and X-ray fluorescence to determine the concentrations of Al, Sb, As, Ca, Cu, I, Fe Pb, Mg, Mn, Hg, K, Sr, S, V and Zn. The groups of children were of ages between 5 and 13. Difference in the mean concentration of each element between groups was tested by Student's t-test. No trend, either decreasing or increasing, has been established as the degree of severity increased from normal to SR children, except for the case of Cu. The present work may shed some light in the interpretation of findings on the effects of trace elements on neurobehavioral functions. (author)

Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins.

Science.gov (United States)

Chen, Eileen; Joseph, Simpson

2015-07-01

Translational control is a common mechanism used to regulate gene expression and occur in bacteria to mammals. Typically in translational control, an RNA-binding protein binds to a unique sequence in the mRNA to regulate protein synthesis by the ribosomes. Alternatively, a protein may bind to or modify a translation factor to globally regulate protein synthesis by the cell. Here, we review translational control by the fragile X mental retardation protein (FMRP), the absence of which causes the neurological disease, fragile X syndrome (FXS). Copyright © 2015 Elsevier B.V. and Société française de biochimie et biologie Moléculaire (SFBBM). All rights reserved.

Mental Retardation, Poverty and Community Based Rehabilitation

Directory of Open Access Journals (Sweden)

Einar Helander

2009-10-01

Full Text Available A person with moderate mental retardation would, in a western country, be "diagnosed" early on in life. Consequently, such a child is likely to be sent for special education. Given the high level of job requirements, such a person is unlikely to be employed in the open market later in life. Mental retardation is one of the most frequent disabilities in most studies, mental retardation is found in about three percent of the population. Persons even with mild mental retardation have very large difficulties finding employment and are for this reason often deprived of opportunities for suitable and productive income generation this is why most stay poor. But disability does not only cause poverty poverty itself causes disability. This study follows an analysis, based on a review of the Swedish programme for mental retardation during the period 1930-2000. It is concluded that in Sweden a very large proportion of mild and moderate mental retardation has been eliminated though the combination of poverty alleviation with a community-based rehabilitation programme. For these situations a pro-active programme analysing and meeting the needs of the target groups should be useful as a means to achieve poverty alleviation.

Learning and Behavioral Deficits Associated with the Absence of the Fragile X Mental Retardation Protein: What a Fly and Mouse Model Can Teach Us

Science.gov (United States)

Santos, Ana Rita; Kanellopoulos, Alexandros K.; Bagni, Claudia

2014-01-01

The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the "FMR1" gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain…

The amino-terminal structure of human fragile X mental retardation protein obtained using precipitant-immobilized imprinted polymers

Science.gov (United States)

Hu, Yufeng; Chen, Zhenhang; Fu, Yanjun; He, Qingzhong; Jiang, Lun; Zheng, Jiangge; Gao, Yina; Mei, Pinchao; Chen, Zhongzhou; Ren, Xueqin

2015-03-01

Flexibility is an intrinsic property of proteins and essential for their biological functions. However, because of structural flexibility, obtaining high-quality crystals of proteins with heterogeneous conformations remain challenging. Here, we show a novel approach to immobilize traditional precipitants onto molecularly imprinted polymers (MIPs) to facilitate protein crystallization, especially for flexible proteins. By applying this method, high-quality crystals of the flexible N-terminus of human fragile X mental retardation protein are obtained, whose absence causes the most common inherited mental retardation. A novel KH domain and an intermolecular disulfide bond are discovered, and several types of dimers are found in solution, thus providing insights into the function of this protein. Furthermore, the precipitant-immobilized MIPs (piMIPs) successfully facilitate flexible protein crystal formation for five model proteins with increased diffraction resolution. This highlights the potential of piMIPs for the crystallization of flexible proteins.

Subcellular fractionation and localization studies reveal a direct interaction of the Fragile X Mental Retardation Protein (FMRP) with nucleolin

NARCIS (Netherlands)

Taha, M.S.; Nouri, K.; Milroy, L.G.; Moll, J.M.; Herrmann, C.; Brunsveld, L.; Piekorz, R.P.; Ahmadian, M.R.

2014-01-01

Fragile X mental Retardation Protein (FMRP) is a well-known regulator of local translation of its mRNA targets in neurons. However, despite its ubiquitous expression, the role of FMRP remains ill-defined in other cell types. In this study we investigated the subcellular distribution of FMRP and its

SLEEP DISORDERS IN MENTALLY RETARDED CHILDREN

Directory of Open Access Journals (Sweden)

I. A. Kelmanson

2014-01-01

Full Text Available The paper presents the study of the association between sleep disturbances and mental retardation in children. Attention is paid to the instant connection between sleep neurophysiology and intellectual progress, as well as between sleep disorders and the pathogenesis of mental retardation in children. The data on characteristic forms of sleep disturbances, including bed-time resistance, frequent night awakenings, parasomnias, abnormal sleep structure, and notably reduced REM-sleep proportion are provided. The potential role of abnormal melatonin production in the origins of sleep disturbances in children with mental retardation is discussed. Certain approaches to pharmacological and non-pharmacological corrections of sleep disorders are outlined.

An algorithm for the diagnosis of X-linked intellectual disability in children

Directory of Open Access Journals (Sweden)

V. Yu. Voinova

2016-01-01

Full Text Available X-linked intellectual disability (XLID is a clinically and genetically heterogeneous group of hereditary diseases caused by mutations on the X chromosome, which lead to impaired intellectual development. The paper determines for the first time the proportion of X-linked diseases (6.54% in the pattern of intellectual disability in children. A system has been developed to quantify the clinical severity of fragile X mental retardation syndrome and Rett syndrome. A system has been scientifically justified to predict the clinical severity, which is based on an analysis of the impact of genetic and epigenetic factors (mutation type and location, X chromosome inactivation. The authors have determined the contribution of nonrandom X inactivation to the clinical polymorphism of various forms of XLID and established its role as an important diagnostic marker for pathology. It is shown that the study of X chromosome inactivation can identify asymptomatic female carriers of X-linked mutations to provide medical genetic counseling to families. An algorithm has been elaborated to diagnose XLID among the undifferentiated forms of mental developmental abnormalities in children. 

Noncitizen: Plight of the Mentally Retarded

Science.gov (United States)

Skarnulis, Ed

1974-01-01

Mentally retarded citizens have been denied their human and civil rights, not only by the public, but by professionals--including social workers. The author claims that most programs for the mentally retarded are, at best, dehumanizing. Professionals have an ethical obligation to refuse to refer children to such programs. (Author)

Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies.

Science.gov (United States)

Dierks, C; Hoffmann, H; Heinrich, F; Hellige, M; Hewicker-Trautwein, M; Distl, O

2017-02-01

Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Pedigree analysis supported an X-linked recessive mode of inheritance. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

Science.gov (United States)

Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; Kalscheuer, Vera; Oehl-Jaschkowitz, Barbara; Skinner, Cindy; Schwartz, Charles E; Gecz, Jozef; Van Esch, Hilde; Raynaud, Martine; Chelly, Jamel; de Brouwer, Arjan P M; Toniolo, Daniela; D'Adamo, Patrizia

2010-02-12

Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. One mutation in family X (D-23) introduced a stop codon seven amino acids after the start codon (c.21C > A; p.Y7X). A second mutation, in the MRX72 family, altered the 5' splice site (c.215+1G > A) and normal splicing. Neither instance produced a protein. Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly. We show that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance. Our results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities. Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

[Clinical genealogical and molecular genetic study of patients with mental retardation].

Science.gov (United States)

Hryshchenko, N V; B'ichkova, A M; Lyvshyts, A B; Kravchenko, S A; Pampukha, V N; Solov'ev, A A; Kucherenko, A M; Tatarskiĭ, P F; Afanas'eva, N A; Dubrovskaia, E V; Patskun, Ie Y; Zymak-Zakutnaia, N O; Nykytchina, T V; Lohysh, S Iu; Lyvshyts, L A

2012-01-01

The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.

Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.

Science.gov (United States)

Knobloch, O; Pelz, F; Wick, U; Nelson, D L; Zoll, B

1993-03-01

In order to test whether the direct molecular diagnostic approach for fragile X mental retardation (Martin-Bell syndrome, MBS) really makes diagnosis of this disease more precise, we evaluated the results of direct diagnosis in 40 German families at risk together with the results of an earlier study with closely linked flanking markers in the same families. Of 84 men analysed, 43 showed clinical signs. In 39 of these affected men the disease could be confirmed by direct diagnosis. Compared to cytogenetic data, one man was false negative and two were false positive. Two men, whose status could not be determined by means of RFLP data, proved to be normal transmitting males (NTMs). However, the possibility of being an NTM had to be rejected in one case on RFLP data. Fragile X syndrome could be confirmed in 10 of the 13 women with clinical signs. Compared to cytogenetic data there were three cases of false negative results and one of false positive. All 36 obligate carrier women were detected by the direct approach. In addition, 22 women were newly identified as normal transmitting females (NTFs), among them one woman who could not be identified by cytogenetic means or by analysis with closely linked markers. These findings are discussed in view of the relative reliability of the three diagnostic approaches to MBS. Special attention is drawn to the significance of false negative and false positive results in direct diagnosis.

Fragile X mental retardation protein stimulates ribonucleoprotein assembly of influenza A virus

Science.gov (United States)

Zhou, Zhuo; Cao, Mengmeng; Guo, Yang; Zhao, Lili; Wang, Jingfeng; Jia, Xue; Li, Jianguo; Wang, Conghui; Gabriel, Gülsah; Xue, Qinghua; Yi, Yonghong; Cui, Sheng; Jin, Qi; Wang, Jianwei; Deng, Tao

2014-02-01

The ribonucleoprotein (RNP) of the influenza A virus is responsible for the transcription and replication of viral RNA in the nucleus. These processes require interplay between host factors and RNP components. Here, we report that the Fragile X mental retardation protein (FMRP) targets influenza virus RNA synthesis machinery and facilitates virus replication both in cell culture and in mice. We demonstrate that FMRP transiently associates with viral RNP and stimulates viral RNP assembly through RNA-mediated interaction with the nucleoprotein. Furthermore, the KH2 domain of FMRP mediates its association with the nucleoprotein. A point mutation (I304N) in the KH2 domain, identified from a Fragile X syndrome patient, disrupts the FMRP-nucleoprotein association and abolishes the ability of FMRP to participate in viral RNP assembly. We conclude that FMRP is a critical host factor used by influenza viruses to facilitate viral RNP assembly. Our observation reveals a mechanism of influenza virus RNA synthesis and provides insights into FMRP functions.

Caring for children with mental retardation: The experiences of ...

African Journals Online (AJOL)

Caring for children with mental retardation at home requires great patience and understanding. Mothers often experience difficulties adjusting to the fact that their children are mentally retarded and that it cannot be cured. This study investigated the experiences of mothers caring for children with mental retardation.

Roles of Fragile X Mental Retardation Protein in Dopaminergic Stimulation-induced Synapse-associated Protein Synthesis and Subsequent α-Amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) Receptor Internalization*

OpenAIRE

Wang, Hansen; Kim, Susan S.; Zhuo, Min

2010-01-01

Fragile X syndrome, the most common form of inherited mental retardation, is caused by the absence of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP regulates local protein synthesis in dendritic spines. Dopamine (DA) is involved in the modulation of synaptic plasticity. Activation of DA receptors can regulate higher brain functions in a protein synthesis-dependent manner. Our recent study has shown that FMRP acts as a key messenger for DA modulation in forebrain ne...

38 CFR 4.127 - Mental retardation and personality disorders.

Science.gov (United States)

2010-07-01

... AFFAIRS SCHEDULE FOR RATING DISABILITIES Disability Ratings Mental Disorders § 4.127 Mental retardation and personality disorders. Mental retardation and personality disorders are not diseases or injuries... from them may not be service-connected. However, disability resulting from a mental disorder that is...

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

NARCIS (Netherlands)

Jensen, L.R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V.M.M.; Meloni, I.; Raynaud, M.; Esch, H. van; Chelly, J.; Brouwer, A.P. de; Hackett, A.; Haar, S. van der; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H.H.; Kuss, A.W.

2011-01-01

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation

Dilemmas in counselling females with the fragile X syndrome

NARCIS (Netherlands)

B.B.A. de Vries (Bert); H.M. van den Boer-van den Berg; M.F. Niermeijer (Martinus); A. Tibben (Arend)

1999-01-01

textabstractThe dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females

Referential first mention in narratives by mildly mentally retarded adults.

Science.gov (United States)

Kernan, K T; Sabsay, S

1987-01-01

Referential first mentions in narrative reports of a short film by 40 mildly mentally retarded adults and 20 nonretarded adults were compared. The mentally retarded sample included equal numbers of male and female, and black and white speakers. The mentally retarded speakers made significantly fewer first mentions and significantly more errors in the form of the first mentions than did nonretarded speakers. A pattern of better performance by black males than by other mentally retarded speakers was found. It is suggested that task difficulty and incomplete mastery of the use of definite and indefinite forms for encoding old and new information, rather than some global type of egocentrism, accounted for the poorer performance by mentally retarded speakers.

Body Awareness in Children with Mental Retardation

Science.gov (United States)

Simons, Johan; Dedroog, Inge

2009-01-01

The body awareness of 124 toddlers with mental retardation and of 124 children developing normally matched to them on age and gender was examined. Twenty-nine of the children with mental retardation were diagnosed as Down syndrome (DS). The "Pointing and Naming" Test of Berges and Lezine [Berges, J., & Lezine, I. (1978). "Test d'imitation de…

Psychiatric Illness in Mentally Retarded Adolescents: Clinical Features.

Science.gov (United States)

Masi, Gabriele

1998-01-01

Describes the clinical features of the most important psychiatric disorders in mentally retarded adolescents: mood disorders, psychotic disorders, severe behavioral disorders, personality disorders, anxiety disorders, and attention-deficit The impact of mental retardation on personality development is confirmed by the high psychopathological…

The Van Hiele geometry thinking levels of mild mental retardation students

Science.gov (United States)

Shomad, Z. A.; Kusmayadi, T. A.; Riyadi

2017-12-01

This research is to investigate the level of mild mental retardation geometry students thinking. This research focuses on the geometry thinking level based on Van Hiele theory. This study uses qualitative methods with case study strategy. Data obtained from observation and tests result. The subjects are 12 mental retardation students. The result show that ability of mild mental retardation students with each other is different but have same level of level thinking geometry. The geometry thinking level of mental retardation students was identified in level 1 of the Van Hiele theory. Based on the level thinking geometry of mental retardation students simplify geometry thinking teachers in selecting appropriate learning methods, choose the materials in accordance with ability, and can modify the material following the geometry thinking level of mental retardation students.

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

Science.gov (United States)

Malik, Amna; Amer, Ahmed Bait; Salama, Mohammed; Haddad, Bander; Alrifai, Muhammad T; Balwi, Mohammed Al; Davies, William; Eyaid, Wafaa

2017-09-22

X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.

High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.

Science.gov (United States)

Kumari, Daman; Swaroop, Manju; Southall, Noel; Huang, Wenwei; Zheng, Wei; Usdin, Karen

2015-07-01

: Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X mental retardation protein (FMRP). In most patients, the absence of FMRP is due to an aberrant transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene. FXS has no cure, and the available treatments only provide symptomatic relief. Given that FMR1 gene silencing in FXS patient cells can be partially reversed by treatment with compounds that target repressive epigenetic marks, restoring FMRP expression could be one approach for the treatment of FXS. We describe a homogeneous and highly sensitive time-resolved fluorescence resonance energy transfer assay for FMRP detection in a 1,536-well plate format. Using neural stem cells differentiated from an FXS patient-derived induced pluripotent stem cell (iPSC) line that does not express any FMRP, we screened a collection of approximately 5,000 known tool compounds and approved drugs using this FMRP assay and identified 6 compounds that modestly increase FMR1 gene expression in FXS patient cells. Although none of these compounds resulted in clinically relevant levels of FMR1 mRNA, our data provide proof of principle that this assay combined with FXS patient-derived neural stem cells can be used in a high-throughput format to identify better lead compounds for FXS drug development. In this study, a specific and sensitive fluorescence resonance energy transfer-based assay for fragile X mental retardation protein detection was developed and optimized for high-throughput screening (HTS) of compound libraries using fragile X syndrome (FXS) patient-derived neural stem cells. The data suggest that this HTS format will be useful for the identification of better lead compounds for developing new therapeutics for FXS. This assay can also be adapted for FMRP detection in clinical and research settings. ©AlphaMed Press.

The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

Science.gov (United States)

Rousseau, François; Labelle, Yves; Bussières, Johanne; Lindsay, Carmen

2011-08-01

The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations.

The Fragile X Mental Retardation Syndrome 20 Years After the FMR1 Gene Discovery: an Expanding Universe of Knowledge

Science.gov (United States)

Rousseau, François; Labelle, Yves; Bussières, Johanne; Lindsay, Carmen

2011-01-01

The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations. PMID:21912443

The difficulties of teacher in teaching geometry for mental retardation students

Science.gov (United States)

Shomad, Z. A.; Kusmayadi, T. A.; Riyadi

2018-03-01

The purpose of this research is to find out the problems faced by teachers in teaching materials on mental retardation students. It focused on the difficulties faced by the teacher in teaching geometry. A qualitative method with field study approach used in this study. The subjects in this research are the teacher and mild mental retardation students. There are six teachers and six students involve as the subject which is chosen by purposive sampling. The data of this research is the observation and interview against teachers and mental retardation students. The data was analyzed qualitatively with Miles and Huberman steps. The results of this research show that mental retardation students have less attention to the materials, less special books or learning media props, difficult in the set the students, and the difficulty in choosing the material that suits the student needs and the condition of mental retardation students. There's not much pay attention to the children with special need, particularly mental retardation student. Thus, this study can help analyze the difficulties teachers so that learning math for mental retardation students more optimal.

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

NARCIS (Netherlands)

Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Mieloo, H.; Syrrou, M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

2001-01-01

In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications,

The fragile X mental retardation protein regulates tumor invasiveness-related pathways in melanoma cells.

Science.gov (United States)

Zalfa, Francesca; Panasiti, Vincenzo; Carotti, Simone; Zingariello, Maria; Perrone, Giuseppe; Sancillo, Laura; Pacini, Laura; Luciani, Flavie; Roberti, Vincenzo; D'Amico, Silvia; Coppola, Rosa; Abate, Simona Osella; Rana, Rosa Alba; De Luca, Anastasia; Fiers, Mark; Melocchi, Valentina; Bianchi, Fabrizio; Farace, Maria Giulia; Achsel, Tilmann; Marine, Jean-Christophe; Morini, Sergio; Bagni, Claudia

2017-11-16

The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival. Reduction of FMRP in metastatic melanoma cell lines impinges on cell migration, invasion and adhesion. Next-generation sequencing in human melanoma cells revealed that FMRP regulates a large number of mRNAs involved in relevant processes of melanoma progression. Our findings suggest an association between FMRP levels and the invasive phenotype in melanoma and might open new avenues towards the discovery of novel therapeutic targets.

Crusted piloleiomyoma with mental retardation: A rare association

Directory of Open Access Journals (Sweden)

Kamboj Sangeeta

2009-01-01

Full Text Available Piloleiomyoma is an uncommon benign smooth muscle neoplasm arising from arrector pili muscle. It is clinically defined by the presence of solitary or multiple reddish brown, dome-shaped, smooth papules or nodules, ranging in size from a few millimeters to a centimeter. The patients are otherwise healthy; but mental retardation developing in some patients with multiple Piloleiomyomas has been emerging as an intriguing matter for analysis by the scientists. In this case report, a mentally retarded patient with Piloleiomyoma is described, who, besides the characteristic smooth and dome-shaped lesions on the anterolateral aspect of the dorsum of the right foot, had developed crusting on one of the largest lesions. The histopathological features were consistent with Piloleiomyoma. The occurrence of Piloleiomyoma in a mentally retarded child and its unusual crusted nature has been rarely reported. The association between Piloleiomyoma and mental retardation is further stressed in this case report.

Autism and Mental Retardation of Young Children in China

Institute of Scientific and Technical Information of China (English)

XIN ZHANG; CHENG-YE JI

2005-01-01

Objective To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening 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. Results Among 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. Conclusions The 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.

Knockout mouse model for Fxr2: a model for mental retardation

NARCIS (Netherlands)

C.J.M. Bontekoe (Carola); L. Kirkpatrick; C.E. Bakker (Cathy); A.T. Hoogeveen (Andre); R. McAninch; M. Merriweather; B.A. Oostra (Ben); N.C. Cheng (Ngan Ching); K.L. McIlwain; I.M. Nieuwenhuizen (Ingeborg); L.A. Yuva-Paylor; R. Paylor; A. Nellis; R. Willemsen (Rob); Z. Fang; D. Nelson

2002-01-01

textabstractFragile X syndrome is a common form of mental retardation caused by the absence of the FMR1 protein, FMRP. Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macro-orchidism and behavioral abnormalities. Two homologs of FMRP have been

Political Philosophy and the Mentally Retarded.

Science.gov (United States)

Stanovich, Keith E.

The effects of Social Darwinism, eugenics, and contemporary political conservatism on the status of advocacy efforts for the mentally retarded are reviewed. Provided are historical sketches of Social Darwinism, which viewed the retarded as members of an inferior race, and eugenics, which argued for sterilization of the "genetically…

The Mentally Retarded Offender and Corrections.

Science.gov (United States)

Santamour, Miles; West, Bernadette

The booklet provides an overview of the issues involved in correctional rehabilitation for the mentally retarded offender. Reviewed are clinical and legal definitions of criminal behavior and retardation, and discussed are such issues as law enforcement and court proceedings problems, pros and cons of special facilities, labeling, normalization,…

Epidemiology of Mental Retardation.

Science.gov (United States)

Heber, Rick

Prevalence data on mental retardation is presented including international estimates on general prevalence, age directions, geographical variations within the United States, racial and ethnic variations, economic class distributions, family variations, and population distribution in institutions. Statistics are also provided in areas of specific…

STRUCTURE OF BODY DEFORMATIES AMONG PERSONS WITH MENTAL RETARDATION

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Blagoja GESHOSKI

2010-04-01

Full Text Available The purpose of this research was to assess body structure deformities among people with mental retardation.Knowing the structure of people with mental retardation’s physical deformities is the starting basis of a quality program for preventive and corrective work. Also, it is a starting point in the process of special education and rehabilitation in regards to their removal and mitigation.The structure of the physical deformities among persons with mental retardation were analyzed in terms of age and degree of mental retardation in relation to everyday life activities.The inquiry covered 170 respondents with mental retardation in both sexes. All respondents were placed in an institution for treatment of persons with severe and profound mental retardation (Special Institute Deep River. On the basis of two criteria, participants are divided into groups. The first criterion forestablishing a group of level of mental retardation: Group I - severe mental retardation (TMR and Group II - profound mental retardation (DMR. A second criterion for establishing the age group of respondents: Group I - age 18 years; Group II- Age 19 - 30 years and Group III - over 31 years. The structure of the physical deformities was analyzed in terms of age and degree of mental retardation in relation to activities in everyday life.For the purposes of the planned research , an integral protocol is established for the evaluation of physical deformities among persons with disabilities, including: an application form for general information about the respondents, a questionnaire to assess somatic status, and a clinical sheet and test activities in everyday life (Test ASZH, Rusk, 1971. All data obtained by the research are expressed quantitatively and treated with the following statistical methods and procedures: number of repetitions, frequency and percentages, measure of central tendency, the arithmetic mean and standard deviation, χ2 and Fisher Exact - test

Preliminary Study of Mental Retardation in Rovira (Tolima, Colombia

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Luis Gustavo Celis

2008-07-01

Full Text Available limitationsin performance, significant deficiencyin intelligence and adaptative behavior, causingclinical and social disability. Most patients withmental retardation in Colombia do not receiveclinical genetics evaluation. The aims of thepresent study are to evaluate and characterizea group of patients with mental retardationfrom the population of Rovira. The presentstudy included twenty five patients with mentalretardation from Rovira (Tolima whichwere studied by clinical examination, metabolicscreening (ferric chloride, nitrosonaphtol,silver nitroprusiate, dinitrophenylhydrazineand benedict and cytogenetics (G-Bandingkariotype. Pesticide detection was perfomedby random sampling of water and tomatoes intwenty different places of water distribution,the center of the town and crop fields. A familywith three affected sibs (two females, onemale with mental retardation was identified,suggesting a genetic component. Metabolicscreening was negative and karyotypes werenormal. The analyses performed for organophosphateswere positive in 100% of the samples.Carbamates were positive in 60% of thewater source and 100% of tomato samples. Allthe samples tested were negative for organochlorides.Further studies as molecular fragile-X test, will be performed.

Characteristics of Those Persons with Mental Retardation Registered with the Mental Retardation Division.

Science.gov (United States)

Cocks, Errol; Ng, Pin Chee

1983-01-01

The paper discusses an analysis of a computerized data bank on the mentally retarded population in Victoria, Australia. Prevalence rates, severity of handicap, age, sex, and residence type are reviewed and implications for community vocational and residential services for adults are noted. (CL)

Sex between persons with 'mental retardation': an ethical evaluation

NARCIS (Netherlands)

Spiecker, B.; Steutel, J.W.

2002-01-01

Is sex between people with "mental retardation" morally permissible and, if at all, under what conditions? This paper tries to answer this question, but only with regard to sex between biologically mature individuals with mild or moderate mental retardation. First, the concepts of "sexual activity"

Trace element analysis of hair of mentally retarded children

International Nuclear Information System (INIS)

Bhandari, H.P.S.; Lal, G.; Sidhu, N.P.S.; Mittal, V.K.; Sahota, H.S.

1987-01-01

Unlike previously reported, Zn and Se levels were found to be the same in the hair of mentally retarded children and controls. Non-essential toxic Ag concentration was low whereas that of Hg, Au and Sc rather high in mentally retarded children. (author) 4 refs

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Science.gov (United States)

Pinard, J M; Motte, J; Chiron, C; Brian, R; Andermann, E; Dulac, O

1994-01-01

Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy. Images PMID:8057113

Psychometric properties of ADHD rating scales among children with mental retardation.

Science.gov (United States)

Miller, Michael L; Fee, Virginia E; Jones, Christie J

2004-01-01

The validity of hyperactivity rating scales in children with mental retardation was evaluated. Forty-eight children with mental retardation were rated by parents, teachers and teaching assistants on rating scales measuring Attention Deficit/Hyperactivity Disorder (ADHD) as part of a related investigation. In addition, direct observations were conducted using the Abikoff Classroom Observation Code. The concurrent validity of each scale was examined. Scales completed by both teachers and teaching assistants were found to provide valid information for the assessment of ADHD in mentally retarded children. Results provided the best support for the ABC-C in the assessment of ADHD in mentally retarded children.

Sustained Attention of Adults with Mental Retardation.

Science.gov (United States)

Tomporowski, Phillip D.; Allison, Pamela

1988-01-01

The sustained attention of 23 young adults with mild mental retardation and nonretarded subjects was assessed. Findings suggested that the sustained attention of the retarded differs from that of the nonretarded on those vigilance tasks that place demands on memory abilities. (Author/DB)

Theories on Criminality and Mental Retardation Project CAMIO, Volume 2.

Science.gov (United States)

Haskins, Jimmy R.; Friel, Charles M.

This historical review of theories on criminality and mental retardation is part of Project CAMIO (Correctional Administration and the Mentally Incompetent Offender), a Texas study to determine the incidence of criminal incarceration of the mentally retarded (MR) and to identify laws, procedures, and practices which affect the prosecution and…

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP).

Science.gov (United States)

LaFauci, Giuseppe; Adayev, Tatyana; Kascsak, Richard; Brown, W Ted

2016-12-09

The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders. The loss of FMRP causes Fragile X Syndrome (FXS). In most cases, FXS is due to large expansions of a CGG repeat in FMR1 -normally containing 6-54 repeats-to over 200 CGGs and identified as full mutation (FM). Hypermethylation of the repeat induces FMR1 silencing and lack of FMRP expression in FM male. Mosaic FM males express low levels of FMRP and present a less severe phenotype that inversely correlates with FMRP levels. Carriers of pre-mutations (55-200 CGG) show increased mRNA, and normal to reduced FMRP levels. Alternative splicing of FMR1 mRNA results in 24 FMRP predicted isoforms whose expression are tissues and developmentally regulated. Here, we summarize the approaches used by several laboratories including our own to (a) detect and estimate the amount of FMRP in different tissues, developmental stages and various pathologies; and (b) to accurately quantifying FMRP for a direct diagnosis of FXS in adults and newborns.

Cognitive Representation of Motion in Individuals with Mental Retardation.

Science.gov (United States)

Conners, Frances A.; Wyatt, Beverly S.; Dulaney, Cynthia L.

1998-01-01

Fifteen adolescents with and 15 without mental retardation were compared on their tendency to show the representational momentum effect when viewing a stimulus array that implied motion. Participants with mental retardation showed the representational momentum effects as did the others, although the magnitude of the memory shift was smaller.…

Radiation and mental retardation

International Nuclear Information System (INIS)

Pochin, E.E.

1988-01-01

The editorial comments on a report published by the Radiation Effects Research Foundation in Hiroshima updating information on the induction of mental changes in the light of the revised and more detailed estimate of doses of radiation during pregnancies received by those exposed at Hiroshima and Nagasaki. The estimated risks are little changed. The likelihood of a threshold for exposure during the 16th to 25th week is confirmed-at 700 mGy (with a lower 95% confidence interval of 200 mGy). For the more sensitive time between the eighth to 15th weeks a linear model with no threshold still gives a statistically adequate fit to the data. Now, however, if linear models are tested without the constraint of postulating a threshold of zero, fits are obtained indicating substantial thresholds below which mental retardation would not result. When data on all children are included the maximum likelihood threshold value averages about 250 mGy on the different criteria tested (with mean 95% confidence intervals of 0 and 550 mGy). Or if the analyses exclude five children with conditions that themselves sometimes cause mental retardation a threshold of about 400 mGy is indicated (with mean 95% confidence intervals of 150 and 600 mGy). (author)

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother

DEFF Research Database (Denmark)

Tabor, A; Andersen, O; Lundsteen, C

1983-01-01

A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate, agenesis of the corpus callosum, and severe mental retardation. The possible causal relationship to his chromosome abnormality is discussed. Alt....... Although the deletion occurred within the critical region, the mother showed no signs of gonadal dysgenesis. A phenotypically normal daughter was, as her mother, monosomic for this region of the X, and both showed random inactivation of the X chromosome....

Perceptual-Motor Attributes of Mentally Retarded Youth.

Science.gov (United States)

Cratty, Bryant J.

To evaluate six perceptual-motor attributes of trainable and educable mentally retarded children, a battery of tests was constructed which included body perception, gross agility, balance, locomotor ability, throwing, and tracking; 83 retarded subjects provided reliability data, and their scores, with those of 120 additional subjects, provided…

[Behavioral disorders and substance abuse in adolescents with mental retardation].

Science.gov (United States)

Papachristou, Ec; Anagnostopoulos, Dk

2014-01-01

The percentage of people with mental retardation in the general population is estimated at about 2.3%, with adolescence (15-20 years) constituting the development period during which a peak in rates of mental retardation is observed. The increased prevalence of adolescence may be explained from the fact that the specified requirements of the school initially, and society later, inevitably lead to comparative evaluation of the teen with mental retardation in relation to peers, thus making mental retardation more apparent. Adolescents with mental retardation face a number of physical and psychological needs which are not often distinguishable and as a consequence undergo the deterioration of their already burdened quality of life. In particular, mental health problems occur 3 to 4 times more often in adolescents with mental retardation compared with adolescents of the general population. This review presents the most recent epidemiological findings regarding the correlation between behavioral disorders, substance use and the possible comorbidity in adolescents with intellectual disability, both at community level and residential care level. Epidemiological data indicate that behavioral disorders are among the most common types of psychopathology in mentally retarded adolescents with the severity and symptoms varying depending on the personal characteristics of each adolescent. Regarding substance use, the available data show that the rates of substance use (alcohol, smoking, illicit drugs) are lower in this specific population group but the differences over the last years tend to be eliminated. Finally, according to the few surveys that were examined referring to the comorbidity of behavioral disorders and substance use in adolescents with intellectual disability, the results were contradictory. Specifically, while behavioral disorders continued to be one of the most common types of psychopathology, the related substances disorders indicated lower rates compared to

Retraso mental y calidad de vida Mental retardation and quality of life

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José Israel López

2005-12-01

Full Text Available Se realizó un estudio descriptivo transversal con todos los niños de 0 a 14 años diagnosticados con algún grado de retraso mental, en el municipio Playa, en el año 2001. Encontramos un total de 244 retrasados mentales pertenecientes a ese grupo de edad, para el 21,2 %. Los antecedentes perinatales se presentaron como causa de retraso mental en un 29,5 %. Dentro de las enfermedades más frecuentemente asociadas al embarazo encontramos las infecciones, la desnutrición y/o anemia. Los eventos del período neonatal relacionados con el retraso mental, como son, el parto pretérmino, el instrumentado y la cesárea, mostraron indicadores por encima de los aceptados por el programa materno infantil. De igual manera se comportaron el bajo peso, el apgar bajo y los signos de hipoxia. Existen antecedentes de enfermedades graves e ingresos hospitalarios en el 34,4 % de los casos por diferentes causas, entre las que se destacan las infecciones.A descriptive cross-sectional study was conducted among all the children aged 0-14 that were diagnosed some degree of mental retardation in Playa municipality, in 2001. We found a total of 244 mentally retarded in that age group, accounting for 21.2 %. The perinatal history was presented as a cause of mental retardation in 29.5 %. Infections, malnutrition and/or anemia were among the diseases most frequently associated with pregnancy. The events of the neonatal period related to mental retardation, such as preterm delivery, instrumented delivery and cesarean section, showed indicators above the accepted by the maternal and children's program. Low birth weight, low apgar score and hypoxia signs behaved in the same way. In 34.4 % of the cases there was history of severe diseases and admissions due to different causes, among which infections stood out.

The self-esteem and anxiety of children with and without mentally retarded siblings.

Science.gov (United States)

Saban, Fatma; Arıkan, Duygu

2013-11-01

The study was carried out with the aim of determining the factors affecting and to evaluate anxiety situations and self-esteem of children with and without mentally retarded siblings. The sampling included 227 healthy children: 108 of them have mental retarded sibling and 119 of them do not have mental retarded sibling. The context of this study consisted of 15-18 year of age healthy children with mentally retarded siblings and 15-18 year of aged healthy children having at least one sibling between the dates February 15(st) and June 26(st) 2010. Personal Information Form, Rosenberg Self-Esteem Scale and Trait Anxiety Scale were used. It was found out that trait anxiety of 17-18 aged of children with mental retarded sibling (47.04 ± 7.3) was higher than that of the children without mental retarded siblings (44.05 ± 11.23) (P self-esteem of children with mentally retarded sibling was not affected from the handicap of their siblings (P > 0.05). Trait anxiety score averages of children with mentally retarded sibling and experience some difficulties due to his or her siblings's handicap (47.00 ± 7.76) were found higher than those of those of the children without any problem with the environment (42.61 ± 7.48) (P self-esteem in both groups were not significant different, score of trait anxiety for children with mentally disabled siblings was higher in comparison. It was concluded that anxiety of children with and without mentally retarded siblings increased as self-esteem of these children decreased.

Identification of Important Community Living Skills for Adults with Mental Retardation.

Science.gov (United States)

Lovett, David L.; Harris, Mary B.

1987-01-01

Attempted to identify skills important for successful community living of adults with mental retardation. Individuals (N=73) who had significant contact with adults with mental retardation completed questionnaire on academic, leisure, personal, social, and vocational skills frequently taught to persons with mental handicaps. Subjects considered…

Effect of Coping-Therapy on Mental Health of Mothers with Genetic and Non Genetic Mentally Retarded Children

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M Alagheband

2011-04-01

Full Text Available Introdution: Presence of mentally retarded children as a source of pressure can jeopardize the general health of parents, especially mothers. The range of effect depends on the recognitive evaluation and the individual. The aim of this study was to investigate the effect of coping-therapy on mental health of mothers with genetically and non genetically mentally retarded children referring to Yazd clinical center. Methods: This study was semi experimental and included 40 mothers with mentally retarded children studying in schools supported by the welfare organization of Yazd in 2009- 2010 and were selected by available sampling method. They were divided to two groups; case and control. Before any therapy, all of the mothers answered a general health questionnaire(GHQ28. In the next step, coping-therapy was performed on the case group. In the end, all of the mothers answered the same questionnaire(GHQ28 and data were analyzed by covariance method and t test. Results: The research indicated that coping-therapy has a positive effect on the mental health of mothers with genetically mentally retarded children. This effect is similar on mothers of children with non genetically mental retarded children. Coping-therapy decreases the somatic signs of depression in mothers and improves their sleeping and social efficacy. There was no association of age and educational level of mothers with coping-therapy. Conclusion: Coping-therapy can improve the mental health of mothers of both genetically and non genetically mentally retarded children

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP

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Giuseppe LaFauci

2016-12-01

Full Text Available The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP, is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders. The loss of FMRP causes Fragile X Syndrome (FXS. In most cases, FXS is due to large expansions of a CGG repeat in FMR1—normally containing 6–54 repeats—to over 200 CGGs and identified as full mutation (FM. Hypermethylation of the repeat induces FMR1 silencing and lack of FMRP expression in FM male. Mosaic FM males express low levels of FMRP and present a less severe phenotype that inversely correlates with FMRP levels. Carriers of pre-mutations (55–200 CGG show increased mRNA, and normal to reduced FMRP levels. Alternative splicing of FMR1 mRNA results in 24 FMRP predicted isoforms whose expression are tissues and developmentally regulated. Here, we summarize the approaches used by several laboratories including our own to (a detect and estimate the amount of FMRP in different tissues, developmental stages and various pathologies; and (b to accurately quantifying FMRP for a direct diagnosis of FXS in adults and newborns.

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

Science.gov (United States)

Toutain, A; Ayrault, A D; Moraine, C

1997-08-22

Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.

Parenting Stress in Mothers of Mentally Retarded, Blind, Deaf and Physically Disabled Children

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Mohammad Kazem Atefvahid

2017-03-01

Full Text Available Background and Objective: Parents of children with disabilities are poorer physical and mental health and greater stress experience. This study was conducted to evaluate Parenting stress in mothers of mentally retarded, blind, deaf and physically disabled children.Materials and Methods: This study was causal-comparative. The study population included 310 mothers of exceptional children (mothers of children with mental retardation, blind, deaf and physical-motor disabilities 7 to 12 years of age enrolled in primary schools in the academic year 90-1389 exceptional Tehran. Multi-stage cluster sampling method was used. The data obtained from questionnaires parenting stress using multivariate analysis of variance (MANOVA were analyzed.Results: The results showed that parenting stress in mothers of blind with mentally retarded, deaf with mentally retarded, physically with blind and deaf children are significantly different. As well as, there was significant difference between the mean score of blind, physical disorders, mentally retarded and deaf groups in terms of distraction- hyperactivity subscale.Conclusion: Mothers of children with mental retardation, physical disorders, blind and deaf have most parenting stress respectively.

Epilepsy and Comorbid Mental Retardation

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J Gordon Millichap

2007-08-01

Full Text Available Preventable and unpreventable causes of childhood-onset epilepsy associated with mental retardation were determined in 692 patients with epilepsy onset between 1977 and 1985 in a Nova Scotia population-based cohort studied in the Department of Pediatrics, Dalhousie University, Halifax, Canada.

Mental Retardation: Diagnosis and Treatment.

Science.gov (United States)

Poser, Charles M., Ed.

A collection of writings by 17 authors, the text includes the following discussions: general principles of diagnosis and management of mental retardation, neurologic evaluation of the infant and child, psychological evaluation, educational information, and treatment of pseudoretardation, communicative disorders, and metabolic and endocrine causes.…

Decision Making in Leisure. Empowerment for People with Mental Retardation.

Science.gov (United States)

Bullock, Charles C.; Mahon, Michael J.

1992-01-01

People with mental retardation have been overlooked in recreation/leisure and decision making, which are integral to full community participation. They must be provided with leisure education and decision-making skills. The article describes the Decision Making in Leisure model, explaining its use with individuals with mental retardation. (SM)

Values and Moral Foundations as a Basis for Attitude toward Mentally Retarded People in Students

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Олег Анатольевич Сычев

2018-12-01

Full Text Available An important factor of the successful integration of mentally retarded people is the readiness of the society to accept such people as equal members. In this study we tested the hypothesis that the attitude toward mentally retarded people depends on values and moral factors. The sample comprised 169 students of technical college and pedagogical university. The attitude toward mentally retarded people was measured using a modified version of Mental Retardation Attitude Inventory (MRAI-R by Antonak & Harth, values were tested using Portrait Values Questionnaire (PVQ-R2 by Schwartz, and moral foundations were measured using Moral Foundations Questionnaire (MFQ by Graham et al.. We elaborated modified Russian version of MRAI-R, showed its factor structure and good psychometric properties. The main moral factor of the attitude toward mentally retarded people was the importance of fairness: the higher it is the higher is the readiness to diminish the social distance with the mentally retarded. The importance of authority was associated with the low approval of inclusive education for the mentally retarded. The most important predictor of the attitude toward mentally retarded people was gender: girls demonstrated a more positive attitude towards the mentally retarded.

Elevated progranulin contributes to synaptic and learning deficit due to loss of fragile X mental retardation protein.

Science.gov (United States)

Zhang, Kun; Li, Yu-Jiao; Guo, Yanyan; Zheng, Kai-Yin; Yang, Qi; Yang, Le; Wang, Xin-Shang; Song, Qian; Chen, Tao; Zhuo, Min; Zhao, Ming-Gao

2017-12-01

Fragile X syndrome is an inheritable form of intellectual disability caused by loss of fragile X mental retardation protein (FMRP, encoded by the FMR1 gene). Absence of FMRP caused overexpression of progranulin (PGRN, encoded by GRN), a putative tumour necrosis factor receptor ligand. In the present study, we found that progranulin mRNA and protein were upregulated in the medial prefrontal cortex of Fmr1 knock-out mice. In Fmr1 knock-out mice, elevated progranulin caused insufficient dendritic spine pruning and late-phase long-term potentiation in the medial prefrontal cortex of Fmr1 knock-out mice. Partial progranulin knock-down restored spine morphology and reversed behavioural deficits, including impaired fear memory, hyperactivity, and motor inflexibility in Fmr1 knock-out mice. Progranulin increased levels of phosphorylated glutamate ionotropic receptor GluA1 and nuclear factor kappa B in cultured wild-type neurons. Tumour necrosis factor receptor 2 antibody perfusion blocked the effects of progranulin on GluA1 phosphorylation; this result indicates that tumour necrosis factor receptor 2 is required for progranulin-mediated GluA1 phosphorylation and late-phase long-term potentiation expression. However, high basal level of progranulin in Fmr1 knock-out mice prevented further facilitation of synaptic plasticity by exogenous progranulin. Partial downregulation of progranulin or tumour necrosis factor receptor 2/nuclear factor kappa B signalling restored synaptic plasticity and memory deficits in Fmr1 knock-out mice. These findings suggest that elevated PGRN is linked to cognitive deficits of fragile X syndrome, and the progranulin/tumour necrosis factor receptor 2 signalling pathway may be a putative therapeutic target for improving cognitive deficits in fragile X syndrome. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Temporal requirements of the fragile X mental retardation protein in modulating circadian clock circuit synaptic architecture

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Cheryl L Gatto

2009-08-01

Full Text Available Loss of fragile X mental retardation 1 (FMR1 gene function is the most common cause of inherited mental retardation and autism spectrum disorders, characterized by attention disorder, hyperactivity and disruption of circadian activity cycles. Pursuit of effective intervention strategies requires determining when the FMR1 product (FMRP is required in the regulation of neuronal circuitry controlling these behaviors. In the well-characterized Drosophila disease model, loss of the highly conserved dFMRP causes circadian arrhythmicity and conspicuous abnormalities in the circadian clock circuitry. Here, a novel Sholl Analysis was used to quantify over-elaborated synaptic architecture in dfmr1-null small ventrolateral neurons (sLNvs, a key subset of clock neurons. The transgenic Gene-Switch system was employed to drive conditional neuronal dFMRP expression in the dfmr1-null mutant background in order to dissect temporal requirements within the clock circuit. Introduction of dFMRP during early brain development, including the stages of neurogenesis, neuronal fate specification and early pathfinding, provided no rescue of dfmr1 mutant phenotypes. Similarly, restoring normal dFMRP expression in the adult failed to restore circadian circuit architecture. In sharp contrast, supplying dFMRP during a transient window of very late brain development, wherein synaptogenesis and substantial subsequent synaptic reorganization (e.g. use-dependent pruning occur, provided strong morphological rescue to reestablish normal sLNvs synaptic arbors. We conclude that dFMRP plays a developmentally restricted role in sculpting synaptic architecture in these neurons that cannot be compensated for by later reintroduction of the protein at maturity.

DIA1R is an X-linked gene related to Deleted In Autism-1.

Directory of Open Access Journals (Sweden)

Azhari Aziz

Full Text Available BACKGROUND: Autism spectrum disorders (ASDS are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1 gene. METHODOLOGY/PRINCIPAL FINDINGS: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related. While DIA1 is autosomal (chromosome 3, position 3q24, DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62% similar overall (28% identical, and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. CONCLUSIONS/SIGNIFICANCE: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation.

Genetic Counseling in Mental Retardation.

Science.gov (United States)

Bowen, Peter

The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

Nonretarded and Mentally Retarded Children's Control over Syntax Structures.

Science.gov (United States)

McLeavey, Breda C.; And Others

1982-01-01

Ten nonretarded preschoolers and 10 mildly mentally retarded children (mean age 8 years) were compared for control over various syntactic structures. The retarded children evidenced difficulties similar to those of younger nonretarded children. (Author/SB)

Iconic Memory Deficit of Mildly Mentally Retarded Individuals.

Science.gov (United States)

Hornstein, Henry A.; Mosley, James L.

1987-01-01

Ten mildly retarded young adult males and nonretarded subjects matched for chronological age or mental age were required to recognize both verbal and nonverbal stimuli presented tachistoscopically. Results of a backward visual masking paradigm varying stimulus onset asynchrony (SOA) indicated the retarded subjects performed poorer at the longest…

Sexual self-esteem in mothers of normal and mentally-retarded children.

Science.gov (United States)

Tavakolizadeh, Jahanshir; Amiri, Mostafa; Nejad, Fahimeh Rastgoo

2017-06-01

Sexual self-esteem is negatively influenced by the stressful experiences in lifetime. This study compared the sexual self-esteem and its components in mothers with normal and mentally-retarded children in Qaen city, in 2014. A total of 120 mothers were selected and assigned into two groups of 60 samples based on convenient sampling method and randomized multiple stage sampling. Both groups completed sexual self-esteem questionnaire. The data were analyzed employing t-test through SPSS software version15. The results showed that the rate of sexual self-esteem in mothers of mentally-retarded children decreased significantly compared with that of mothers with normal children (pself-esteem including skill and experience, attractiveness, control, moral judgment, and adaptiveness in mothers of mentally-retarded children were significantly less than those of mothers with normal children (p self-esteem, especially the sexual one, be taught to mothers of mentally-retarded children by specialists.

Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

Energy Technology Data Exchange (ETDEWEB)

Prager, D.; Braunstein, G.D. (Cedars-Sinai Medical Center, Los Angeles, CA (United States))

1993-04-01

Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.

Fragile X Mental Retardation Protein Is Required to Maintain Visual Conditioning-Induced Behavioral Plasticity by Limiting Local Protein Synthesis.

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Liu, Han-Hsuan; Cline, Hollis T

2016-07-06

Fragile X mental retardation protein (FMRP) is thought to regulate neuronal plasticity by limiting dendritic protein synthesis, but direct demonstration of a requirement for FMRP control of local protein synthesis during behavioral plasticity is lacking. Here we tested whether FMRP knockdown in Xenopus optic tectum affects local protein synthesis in vivo and whether FMRP knockdown affects protein synthesis-dependent visual avoidance behavioral plasticity. We tagged newly synthesized proteins by incorporation of the noncanonical amino acid azidohomoalanine and visualized them with fluorescent noncanonical amino acid tagging (FUNCAT). Visual conditioning and FMRP knockdown produce similar increases in FUNCAT in tectal neuropil. Induction of visual conditioning-dependent behavioral plasticity occurs normally in FMRP knockdown animals, but plasticity degrades over 24 h. These results indicate that FMRP affects visual conditioning-induced local protein synthesis and is required to maintain the visual conditioning-induced behavioral plasticity. Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. Exaggerated dendritic protein synthesis resulting from loss of fragile X mental retardation protein (FMRP) is thought to underlie cognitive deficits in FXS, but no direct evidence has demonstrated that FMRP-regulated dendritic protein synthesis affects behavioral plasticity in intact animals. Xenopus tadpoles exhibit a visual avoidance behavior that improves with visual conditioning in a protein synthesis-dependent manner. We showed that FMRP knockdown and visual conditioning dramatically increase protein synthesis in neuronal processes. Furthermore, induction of visual conditioning-dependent behavioral plasticity occurs normally after FMRP knockdown, but performance rapidly deteriorated in the absence of FMRP. These studies show that FMRP negatively regulates local protein synthesis and is required to maintain visual conditioning

Interpersonal Communication of Children with Mental Retardation

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Aliyah Nur'aini Hanun

2013-11-01

Full Text Available Tunagrahita were a terminology to called the children with mentally retarded conditions. This conditions caused these children having difficulties at least on four areas, related with attention, memory, language, and academics. The research problem is how interpersonal communication tunagrahita in Dormitory Extraordinary Education Foundation (YPLB Cipaganti Bandung. This research’s aim is to seek the interpersonal communication phenomenon of children with mentally retarded in YPLB Cipaganti Dormitory. The research method which were used is the qualitative method with communication Ethnography approach and Symbolic Interactionism theory to have comprehensive descriptions about life reality of mentally retarded’s children in YPLB Cipaganti Dormitory. Data obtained by participation observer, unstructured interviews, and documentary study. The result showed that interpersonal interactions are done with each child boarding and with the management of the hostel, is a series of unique events and interpersonal communication with a distinctive circular process that takes place continuously.

Prefrontal Cortex Dysfunction in Fragile X Mice Depends on the Continued Absence of Fragile X Mental Retardation Protein in the Adult Brain.

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Siegel, Jennifer J; Chitwood, Raymond A; Ding, James M; Payne, Clayton; Taylor, William; Gray, Richard; Zemelman, Boris V; Johnston, Daniel

2017-08-02

Fragile X Syndrome (FX) is generally considered a developmental disorder, arising from a mutation that disrupts the transcription of Fragile X Mental Retardation Protein (FMRP). However, FMRP regulates the transcription of other proteins and participates in an unknown number of protein-protein interactions throughout life. In addition to known developmental issues, it is thus likely that some dysfunction is also due to the ongoing absence of FMRP. Dissociating dysfunction due to developmental dysregulation from dysfunction due to the continued absence of FMRP is necessary to understand the different roles of FMRP and to treat patients effectively throughout life. We show here that FX model mice display substantial deficits in a PFC-dependent task. We then use conditional knock-out mice to eliminate FMRP only in the PFC alone of adult mice. We observe an increase in the proportion of nonlearners and a delay in the onset of learning in both FX and conditional knock-out mice. The results suggest that these deficits (1) are due to the absence of FMRP in the PFC alone and (2) are not the result of developmental dysregulation. Furthermore, PFC-associated deficits are rescued by initiating production of FMRP in adult conditional restoration mice, suggesting that PFC dysfunction may persist as long as FMRP is absent and therefore can be rescued after development. The data suggest that it is possible to dissociate the roles of FMRP in neural function from developmental dysregulation, and that PFC function can be restored in the adult FX brain. SIGNIFICANCE STATEMENT The absence of Fragile X Mental Retardation Protein (FMRP) from birth results in developmental disabilities and lifelong impairments. We show here that in mouse models PFC dysfunction in Fragile X Syndrome (FX) can be attributed to the continued absence of FMRP from the PFC, independent of FMRP status during development. Furthermore, initiation of FMRP production in the PFC of adult FX animals rescues PFC

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

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Ozge Ozalp Yuregir

2012-03-01

Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1: 60-63

Retraso Mental. Traduccion de ERIC EC Digest #528. (Mental Retardation. Translation of ERIC EC Digest #528).

Science.gov (United States)

Hawkins-Shepard, Charlotte

This fact sheet presents basic information on mental retardation for Spanish-speaking educators and others. First, definitions from the Individuals with Disabilities Education Act (IDEA) and the American Association on Mental Retardation (AAMR) are presented. The fact sheet then analyzes how the new AAMR definitions differ from earlier ones,…

Genetic mental services for retardation. patIents with seve.re

African Journals Online (AJOL)

1982-01-04

Jan 4, 1982 ... Care of Mentally Deficient Persons in the RSA (1967) dermed persons with mental .... hensive genetic service for patients with mental retardation and ..... servIces. There are numerous homes and institutions for the mentally.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

NARCIS (Netherlands)

Kroes, Hester Y.; Nievelstein, Rutger-Jan A. J.; Barth, Peter G.; Nikkels, Peter G. J.; Bergmann, Carsten; Gooskens, Rob H. J. M.; Visser, Gepke; van Amstel, Hans-Kristian Ploos; Beemer, Frits A.

2005-01-01

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

Science.gov (United States)

Pickard, Ben S; Hollox, Edward J; Malloy, M Pat; Porteous, David J; Blackwood, Douglas H R; Armour, John A L; Muir, Walter J

2004-08-13

Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness. We have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) to detect abnormalities in the patient group. A subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation. The precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.

Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization.

Science.gov (United States)

Wang, Hansen; Kim, Susan S; Zhuo, Min

2010-07-09

Fragile X syndrome, the most common form of inherited mental retardation, is caused by the absence of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP regulates local protein synthesis in dendritic spines. Dopamine (DA) is involved in the modulation of synaptic plasticity. Activation of DA receptors can regulate higher brain functions in a protein synthesis-dependent manner. Our recent study has shown that FMRP acts as a key messenger for DA modulation in forebrain neurons. Here, we demonstrate that FMRP is critical for DA D1 receptor-mediated synthesis of synapse-associated protein 90/PSD-95-associated protein 3 (SAPAP3) in the prefrontal cortex (PFC). DA D1 receptor stimulation induced dynamic changes of FMRP phosphorylation. The changes in FMRP phosphorylation temporally correspond with the expression of SAPAP3 after D1 receptor stimulation. Protein phosphatase 2A, ribosomal protein S6 kinase, and mammalian target of rapamycin are the key signaling molecules for FMRP linking DA D1 receptors to SAPAP3. Knockdown of SAPAP3 did not affect surface expression of alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) GluR1 receptors induced by D1 receptor activation but impaired their subsequent internalization in cultured PFC neurons; the subsequent internalization of GluR1 was also impaired in Fmr1 knock-out PFC neurons, suggesting that FMRP may be involved in subsequent internalization of GluR1 through regulating the abundance of SAPAP3 after DA D1 receptor stimulation. Our study thus provides further insights into FMRP involvement in DA modulation and may help to reveal the molecular mechanisms underlying impaired learning and memory in fragile X syndrome.

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

Directory of Open Access Journals (Sweden)

Ozge Ozalp Yuregir

2012-02-01

Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1.000: 60-63

Equally unequal: gender discrimination in the workplace among adults with mental retardation.

Science.gov (United States)

Julius, Elona; Wolfson, Hagit; Yalon-Chamovitz, Shira

2003-01-01

Gender discrimination in the work place has been widely reported. Women are usually discriminated against both with respect to level of occupation and salary. The current study explored the correlation between gender and employment among adults with mental retardation, specifically, whether gender discrimination in the work place is as prominent among people with mental retardation as in the general population. Level of occupation and salary earned were studied in 227 adults with mild and moderate mental retardation residing in institutions, hostels, and sheltered homes in Israel. The findings suggest a correlation between gender and employment similar to that in the general population. Women were found to be employed mainly in sheltered workshops and lower levels of occupation, and to earn significantly less than the men. However, closer examination of each work place revealed that within each level of occupation there were no significant gender differences in salary. The finding suggests that while women with mental retardation earn lower salaries than men, this is mainly the result of their lower level of occupation. Rehabilitation efforts should therefore be directed toward ensuring higher levels of occupation as well as community employment among women with mental retardation.

Parental Attitude Towards Mental Retardation

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LEOKADIA WIATROWSKA

2017-10-01

Full Text Available https://doaj.org/puChild's developmental retardation is an undoubted condition for the absence of educational attainment and its unpleasant mental state. Due to the nature of multidimensional state of that, parental attitudes become relevant, as they affect the acceleration or retardation of development. Positive parental attitudes are the strong weapon for the child and his struggles on the way to an equal start and equal development opportunities. For this reason you should emphasize those factors that build the structures supporting developmental progression.An ecosystem approach to human development emphasizes each factor as relevant component for growth and expansion, without denying its own human activity and his self-determination rightblisher/metadata

Fragile X Mental Retardation Protein Restricts Small Dye Iontophoresis Entry into Central Neurons.

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Kennedy, Tyler; Broadie, Kendal

2017-10-11

Fragile X mental retardation protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity, and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well mapped giant fiber (GF) circuit. Controlled dye injection into the GF interneuron results in a dramatic increase in dye uptake in neurons lacking FMRP. Transgenic wild-type FMRP reintroduction rescues the mutant defect, demonstrating a specific FMRP requirement. This phenotype affects only small dyes, but is independent of dye charge polarity. Surprisingly, the elevated dye iontophoresis persists in shaking B mutants that eliminate gap junctions and dye coupling among GF circuit neurons. We therefore used a wide range of manipulations to investigate the dye uptake defect, including timed injection series, pharmacology and ion replacement, and optogenetic activity studies. The results show that FMRP strongly limits the rate of dye entry via a cytosolic mechanism. This study reveals an unexpected new phenotype in a physical property of central neurons lacking FMRP that could underlie aspects of FXS disruption of neural function. SIGNIFICANCE STATEMENT FXS is a leading heritable cause of intellectual disability and autism spectrum disorders. Although researchers established the causal link with FMRP loss >;25 years ago, studies continue to reveal diverse FMRP functions. The Drosophila FXS model is key to discovering new FMRP roles, because of its genetic malleability and individually identified neuron maps. Taking advantage of a well characterized Drosophila neural

PROBLEM OF RESEARCH OF EMOTIONAL DEVELOPMENT OF MENTALLY RETARDED CHILDREN IN FOREIGN PSYCHOLOGY

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Larisa Valentinovna Shipova

2016-02-01

Full Text Available The review of psychology and pedagogical researches of the mentally retarded children devoted to studying of a problem of emotional development in foreign science and practice is presented in article. Various approaches to an assessment of the importance of violations of the emotional sphere of the personality at mentally retarded children for all mental development of the child are considered, need of the accounting of emotional frustration of mentally retarded children for their education and education, and also social adaptation and integration into sociocultural and educational space is discussed. Research of emotional development of mentally retarded children in the course of training is important for development of programs of psychology and pedagogical diagnostics and correction of emotional violations at this category of school students, formation of their self-control, development of the emotional relations.

Psychosocial Impacts of Mentally Retarded Children on Parents in ...

African Journals Online (AJOL)

Psychosocial Impacts of Mentally Retarded Children on Parents in Sudan. ... the age, number of handicapped children in the family as well as the degree of mental ... Results and discussion: The parents reported different psychological effects ...

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

International Nuclear Information System (INIS)

Nussbaum, R.L.; Lesko, J.G.; Lewis, R.A.; Ledbetter, S.A.; Ledbetter, D.H.

1987-01-01

Choroideremia, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central blindness in affected males by the third to fourth decade of life. Choroideremia has been mapped to Xq13-21 by tight linkage to restriction fragment length polymorphism loci. The authors have recently identified two families in which choroideremia is inherited with mental retardation and deafness. In family XL-62, an interstitial deletion Xq21 is visible by cytogenetic analysis and two linked anonymous DNA markers, DXYS1 and DXS72, are deleted. In the second family, XL-45, an interstitial deletion was suspected on phenotypic grounds but could not be confirmed by high-resolution cytogenetic analysis. They used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. Two of the first 83 sequences characterized from the library were found to be deleted in probands from family XL-45 as well as from family XL-62. Isolation of these sequences proves that XL-45 does contain a submicroscopic deletion and provides a starting point for identifying overlapping genomic sequences that span the XL-45 deletion. Each overlapping sequence will be studied to identify exons from the choroideremia locus

Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila

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Samuel H. Friedman

2013-11-01

Fragile X syndrome (FXS, the most common inherited determinant of intellectual disability and autism spectrum disorders, is caused by loss of the fragile X mental retardation 1 (FMR1 gene product (FMRP, an mRNA-binding translational repressor. A number of conserved FMRP targets have been identified in the well-characterized Drosophila FXS disease model, but FMRP is highly pleiotropic in function and the full spectrum of FMRP targets has yet to be revealed. In this study, screens for upregulated neural proteins in Drosophila fmr1 (dfmr1 null mutants reveal strong elevation of two synaptic heparan sulfate proteoglycans (HSPGs: GPI-anchored glypican Dally-like protein (Dlp and transmembrane Syndecan (Sdc. Our recent work has shown that Dlp and Sdc act as co-receptors regulating extracellular ligands upstream of intracellular signal transduction in multiple trans-synaptic pathways that drive synaptogenesis. Consistently, dfmr1 null synapses exhibit altered WNT signaling, with changes in both Wingless (Wg ligand abundance and downstream Frizzled-2 (Fz2 receptor C-terminal nuclear import. Similarly, a parallel anterograde signaling ligand, Jelly belly (Jeb, and downstream ERK phosphorylation (dpERK are depressed at dfmr1 null synapses. In contrast, the retrograde BMP ligand Glass bottom boat (Gbb and downstream signaling via phosphorylation of the transcription factor MAD (pMAD seem not to be affected. To determine whether HSPG upregulation is causative for synaptogenic defects, HSPGs were genetically reduced to control levels in the dfmr1 null background. HSPG correction restored both (1 Wg and Jeb trans-synaptic signaling, and (2 synaptic architecture and transmission strength back to wild-type levels. Taken together, these data suggest that FMRP negatively regulates HSPG co-receptors controlling trans-synaptic signaling during synaptogenesis, and that loss of this regulation causes synaptic structure and function defects characterizing the FXS disease state.

Determining trace element in hair of children with mental retardation

International Nuclear Information System (INIS)

Wang Zhilan; Gu Bomei; Jia Meixiang

1992-01-01

Seven trace elements in the hair come from 29 mental retardation children and 29 normal children have been analysed by INAA and XRF. There are significant differences for Fe and Sc between the two groups. The average value of Pb in the hair of the mental retardation children is higher than that of the normal children. Although Zn is very important for children growing, there is no significant difference between two children groups

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

Directory of Open Access Journals (Sweden)

Blackwood Douglas HR

2004-08-01

Full Text Available Abstract Background Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability. These studies focused on subjects (largely children with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness. Methods We have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH and multiplex amplifiable probe hybridisation (MAPH to detect abnormalities in the patient group. Results A subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation. Conclusion The precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.

Malnutrition as a cause of mental retardation: A population-based study from Sub-Himalayan India

Directory of Open Access Journals (Sweden)

Sunil Kumar Raina

2016-01-01

Full Text Available Background: Mental retardation is one of the most common disabilities of childhood. The research on childhood malnutrition and its relationship with cognitive functioning suggests that malnutrition alone does not cause mental retardation. Objective: To identify the relation between malnutrition and cognition among children from a Sub-Himalayan state in North India. Materials and Methods: A two-phase cross-sectional study was conducted in the rural, urban, and slum area of district Kangra. A 30-cluster sampling technique was used to screen a population of children 1–10 years of age from five randomly selected panchayats (village government units of district Kangra. The screening was based on a modified version of the ten questions screen, adapted to the local population. In the first phase, a door-to-door survey was done to identify suspects of mental retardation. In the second phase, the children found positive in the first phase were called for clinical examination to confirm mental retardation. Anthropometric assessment of all study children was done by measuring weight and height. The nutritional assessment was done by categorizing them according to Waterlow classification for malnutrition. Results: Out of the total 5300 children, 1.7% were diagnosed as mentally retarded. No positive association was reported with different types of malnutrition and mental retardation. A weakly positive association existed between nutritional status and mental retardation (correlation coefficient-0.04. Children who were both wasted and stunted had the highest risk (odds ratio, 95% confidence interval - 5.57, 2.29–10.36 of mental retardation as compared to normal. Conclusion: Malnutrition may be one of the causes but certainly not the only cause of mental retardation. Other causes may be contributing more significantly toward it.

International Directory of Mental Retardation Resources.

Science.gov (United States)

Dybwad, Rosemary F., Ed.

The directory lists and describes governmental and voluntary agencies, research, and other resources in the field of mental retardation in foreign countries. The first section, on international organizations, gives names, addresses, names of directors, and one or more paragraphs of description for the United Nations and its specialized agencies,…

Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

Science.gov (United States)

Smith, Desmond J.; Rubin, Edward M.

2000-01-01

A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

Roles of Fragile X Mental Retardation Protein in Dopaminergic Stimulation-induced Synapse-associated Protein Synthesis and Subsequent α-Amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) Receptor Internalization*

Science.gov (United States)

Wang, Hansen; Kim, Susan S.; Zhuo, Min

2010-01-01

Fragile X syndrome, the most common form of inherited mental retardation, is caused by the absence of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP regulates local protein synthesis in dendritic spines. Dopamine (DA) is involved in the modulation of synaptic plasticity. Activation of DA receptors can regulate higher brain functions in a protein synthesis-dependent manner. Our recent study has shown that FMRP acts as a key messenger for DA modulation in forebrain neurons. Here, we demonstrate that FMRP is critical for DA D1 receptor-mediated synthesis of synapse-associated protein 90/PSD-95-associated protein 3 (SAPAP3) in the prefrontal cortex (PFC). DA D1 receptor stimulation induced dynamic changes of FMRP phosphorylation. The changes in FMRP phosphorylation temporally correspond with the expression of SAPAP3 after D1 receptor stimulation. Protein phosphatase 2A, ribosomal protein S6 kinase, and mammalian target of rapamycin are the key signaling molecules for FMRP linking DA D1 receptors to SAPAP3. Knockdown of SAPAP3 did not affect surface expression of α-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) GluR1 receptors induced by D1 receptor activation but impaired their subsequent internalization in cultured PFC neurons; the subsequent internalization of GluR1 was also impaired in Fmr1 knock-out PFC neurons, suggesting that FMRP may be involved in subsequent internalization of GluR1 through regulating the abundance of SAPAP3 after DA D1 receptor stimulation. Our study thus provides further insights into FMRP involvement in DA modulation and may help to reveal the molecular mechanisms underlying impaired learning and memory in fragile X syndrome. PMID:20457613

Haloperidol Treatment of Trichotillomania in a Boy with Autism and Mental Retardation.

Science.gov (United States)

Ghaziuddin, M.; And Others

1991-01-01

The report describes the successful treatment of trichotillomania (compulsive hair pulling) in a mentally retarded 11-year-old boy with autism and severe mental retardation. Administration of haloperidol resulted in complete cessation of hair pulling which reappeared when the dosage was decreased and ceased again when dosage was reestablished. (DB)

Neurological impairments and sleep-wake behaviour among the mentally retarded.

Science.gov (United States)

Lindblom, N; Heiskala, H; Kaski, M; Leinonen, L; Nevanlinna, A; Iivanainen, M; Laakso, M L

2001-12-01

The objective of the present study was to evaluate the relationship between the sleep-wake behaviour and neurological impairments among mentally retarded people. The sleep-wake behaviour of 293 mentally retarded subjects living in a rehabilitation center was studied by a standardized observation protocol carried out by trained staff members. The protocol consisted of brief check-ups of the subjects' sleep-wake status at 20-min intervals for five randomly chosen 24-h periods during 4 months. From the raw data five sleep-wake behaviour variables were formed. The data concerning the subject characteristics (age, body mass index (BMI), gender, degree of mental retardation, presence of locomotor disability, that of epilepsy, blindness or deafness and the usage of psychotropic medications) were collected from the medical records. Two main findings emerged: (1) severe locomotor disability, blindness and active epilepsy were found to be independent predictors of increased daytime sleep and increased number of wake-sleep transitions and (2) the subjects with a combination of two or all three of these impairments had a significantly more fragmented and abnormally distributed sleep than those with none or milder forms of these impairments. Age, BMI, degree of mental retardation and the studied medications played a minor role in the sleep disturbances of the study population. Finally, deafness was not found to be associated with any of the measured sleep-wake variables.

Regulation of neuronal excitability by interaction of fragile X mental retardation protein with slack potassium channels.

Science.gov (United States)

Zhang, Yalan; Brown, Maile R; Hyland, Callen; Chen, Yi; Kronengold, Jack; Fleming, Matthew R; Kohn, Andrea B; Moroz, Leonid L; Kaczmarek, Leonard K

2012-10-31

Loss of the RNA-binding protein fragile X mental retardation protein (FMRP) represents the most common form of inherited intellectual disability. Studies with heterologous expression systems indicate that FMRP interacts directly with Slack Na(+)-activated K(+) channels (K(Na)), producing an enhancement of channel activity. We have now used Aplysia bag cell (BC) neurons, which regulate reproductive behaviors, to examine the effects of Slack and FMRP on excitability. FMRP and Slack immunoreactivity were colocalized at the periphery of isolated BC neurons, and the two proteins could be reciprocally coimmunoprecipitated. Intracellular injection of FMRP lacking its mRNA binding domain rapidly induced a biphasic outward current, with an early transient tetrodotoxin-sensitive component followed by a slowly activating sustained component. The properties of this current matched that of the native Slack potassium current, which was identified using an siRNA approach. Addition of FMRP to inside-out patches containing native Aplysia Slack channels increased channel opening and, in current-clamp recordings, produced narrowing of action potentials. Suppression of Slack expression did not alter the ability of BC neurons to undergo a characteristic prolonged discharge in response to synaptic stimulation, but prevented recovery from a prolonged inhibitory period that normally follows the discharge. Recovery from the inhibited period was also inhibited by the protein synthesis inhibitor anisomycin. Our studies indicate that, in BC neurons, Slack channels are required for prolonged changes in neuronal excitability that require new protein synthesis, and raise the possibility that channel-FMRP interactions may link changes in neuronal firing to changes in protein translation.

Mentally-Retarded Children of a Pre-School Age and the Development of Movement Skills

OpenAIRE

Morávková, Šárka

2006-01-01

The diploma work covers the issues of children with mental retardation in pre-school age aimed to the development of the movement abilities. It focuses on the relationships between the pre-school child with mental retardation and possibilities of developing its motor skills in context of an organized pre-school education. Theoretical part of the Diploma work indicates the development specifics of the indi- vidual due to mental retardation, describes mainly the movement development of the chil...

Oral Rehabilitation and Management of Mentally Retarded

OpenAIRE

Solanki, Jitender; Khetan, Jitendra; Gupta, Sarika; Tomar, Deepak; Singh, Meenakshi

2015-01-01

High level of periodontal problems of dental caries are frequently observed in mentally handicapped children. This group of patients presents various problems when they face dental treatments. Identification of such population and providing them affordable oral health care is the new concept. A systematic method for identification and screening of persons with mental retardation has been developed and is being followed. Cost and fear are the most commonly cited barriers to dental care. Physic...

Veridical and False Pictorial Memory in Individuals with and without Mental Retardation

Science.gov (United States)

Carlin, Michael T.; Toglia, Michael P.; Wakeford, Yvonne; Jakway, Allison; Sullivan, Kate; Hasel, Lisa

2008-01-01

Veridical and false pictorial recognition were assessed in individuals with mental retardation; groups were matched for MA and CA. Pictures were viewed in either a generative or static format at acquisition. The individuals with mental retardation and those in the MA-matched group had higher rates of false memories for critical items and lower hit…

In utero exposure to A-bomb radiation and mental retardation; a reassessment

International Nuclear Information System (INIS)

Otake, M.; Schull, W.J.

1984-01-01

The prevalence of mental retardation in children exposed in utero to the atomic bombs in Hiroshima and Nagasaki has been re-evaluated in reference to gestational age and tissue dose in the fetus. There was no risk at 0-8 weeks post-conception. The highest risk of forebrain damage occurred at 8-15 weeks of gestational age, the time when the most rapid proliferation of neuronal elements and when most, if not all, neuroblast migration to the cerebral cortex from the proliferative zones is occurring. Overall, the risk is five or more times greater in these weeks than in subsequent ones. In the critical period, damage expressed as the frequency of subsequent mental retardation appears to be linearly related to the dose received by the fetus. A linear model is not equally applicable to radiation-related mental retardation after the 15th week, the observed values suggesting that there a threshold may exist. The data are consistent with a probability of occurrence of mental retardation of 0.40% per cGy or 40% per gray. (author)

Social support of mentally retarded persons

Directory of Open Access Journals (Sweden)

Danuta Zwolinska

2015-01-01

Full Text Available Purpose: The aim of this work is to assess the relationship between the environment and mentally retarded persons. Material and methods: Information referring to social support of mentally retarded persons is a source material collected on the base of the data included in the Polish and foreign literature. The issues under discussion related to the following problems: social integration of persons with intellectual disabilities in a family and local environment, social functioning of people with mild intellectual disability, social rehabilitation of people with moderate, severe and profound intellectual disability and specific contact with people with disabilities. Results: For a person with an intellectual disability, the family is the source of acquisition of basic social skills that give him the opportunity for further development and performing certain social roles in a sense of safety. Full acceptance of the intellectually disabled, may dismiss their sense of shame and fear, and instill the satisfaction of belonging to a social community. Conclusions: Full social acceptance of people with intellectual disabilities is the basis for their assimilation and social functioning.

Fears of institutionalized mentally retarded adults.

Science.gov (United States)

Sternlicht, M

1979-01-01

The patterns of fears of institutionalized mentally retarded adults were studied in a sample of i2 moderately retarded men and women between the ages of 21-49. The direct questioning method was employed. Two interviews were held, two weeks apart; the first interview elicited the Ss' fears, while the second concerned the fears of their friends. A total of 146 responses were obtained, and these were categorized according to the types of fears: supernatural-natural events, animals, physical injury, psychological stress, egocentric responses, and no fears. The Ss displayed a higher percentage of fears in the preoperational stage than in the concrete operational stage. In a comparison of male to female fears, only one category, that of fears of animals, reached significance. The study suggested that the same developmental trend of fears that appears in normal children appears in the retarded as well, and these fears follow Piaget's level of cognitive development, proceeding from egocentric perceptions of causality to realistic cause and effect thinking.

Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles

OpenAIRE

Wang, Jun Yi; Hessl, David; Iwahashi, Christine; Cheung, Katherine; Schneider, Andrea; Hagerman, Randi J.; Hagerman, Paul J.; Rivera, Susan M.

2012-01-01

The fragile X mental retardation 1 (FMR1) gene plays an important role in the development and maintenance of neuronal circuits that are essential for cognitive functioning. We explored the functional linkage(s) among lymphocytic FMR1 gene expression, brain structure, and working memory in healthy adult males. We acquired T1-weighted and diffusion tensor imaging from 34 males (18–80 years, mean ± SD = 43.6 ± 18.4 years) with normal FMR1 alleles and performed genetic and working memory assessme...

Evaluation of auditory sensory memory of mentally retarded and nonretarded persons.

Science.gov (United States)

Campbell, E M; Meyer, P A

1981-07-01

Performance of mentally retarded and nonretarded persons was compared in two experiments designed to identify processes of auditory sensory memory. In one study backward masking of pure tones occurred for a group of retarded adolescents; however, no differences in masking functions were obtained for the retarded group and control groups of equal CA and MA. In the second study a gap-detection task was used as an apparent index of echoic trace durability. Since retarded persons were hypothesized to have a less durable echoic trace, the unique prediction was made that they would outperform control subjects on the task. The retarded group was significantly more accurate and exhibited a lower threshold than did the nonretarded, CA-matched control group. The applicability of these tasks for investigations of mental development was noted, and suggestions were made concerning improvements and extensions of the present research. A theoretical model was proposed to incorporate te current pattern of results.

Psychometric Properties of ADHD Rating Scales among Children with Mental Retardation I: Reliability

Science.gov (United States)

Miller, Michael L.; Fee, Virginia E.; Netterville, Amanda K.

2004-01-01

The reliability of Attention-Deficit/Hyperactivity Disorder (ADHD) rating scales in children with mental retardation was assessed. Parents, teachers, and teaching assistants completed ADHD rating scales on 48 children aged 5-12 diagnosed with mental retardation. Measures included the Child Behavior Checklist (CBCL), Conners Rating Scales, the…

Opitz C syndrome: Trigonocephaly, mental retardation and ...

African Journals Online (AJOL)

We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial ... The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities ...

Autism and mental retardation among offspring born after in vitro fertilization.

Science.gov (United States)

Sandin, Sven; Nygren, Karl-Gösta; Iliadou, Anastasia; Hultman, Christina M; Reichenberg, Abraham

2013-07-03

Between 1978 and 2010, approximately 5 million infants were born after in vitro fertilization (IVF) treatments. Yet limited information on neurodevelopment after IVF exists, especially after the first year of life. To examine the association between use of any IVF and different IVF procedures and the risk of autistic disorder and mental retardation in the offspring. A population-based, prospective cohort study using Swedish national health registers. Offspring born between 1982 and 2007 were followed up for a clinical diagnosis of autistic disorder or mental retardation until December 31, 2009. The exposure of interest was IVF, categorized according to whether intracytoplasmic sperm injection (ICSI) for male infertility was used and whether embryos were fresh or frozen. For ICSI, whether sperm were ejaculated or surgically extracted was also considered. Relative risks (RRs) for autistic disorder and mental retardation and rates per 100,000 person-years, comparing spontaneously conceived offspring with those born after an IVF procedure and comparing 5 IVF procedures used in Sweden vs IVF without ICSI with fresh embryo transfer, the most common treatment. We also analyzed the subgroup restricted to singletons. Of the more than 2.5 million infants born, 30,959 (1.2%) were conceived by IVF and were followed up for a mean 10 (SD, 6) years. Overall, 103 of 6959 children (1.5%) with autistic disorder and 180 of 15,830 (1.1%) with mental retardation were conceived by IVF. The RR for autistic disorder after any procedure compared with spontaneous conception was 1.14 (95% CI, 0.94-1.39; 19.0 vs 15.6 per 100,000 person-years). The RR for mental retardation was 1.18 (95% CI, 1.01-1.36; 46.3 vs 39.8 per 100,000 person-years). For both outcomes, there was no statistically significant association when restricting analysis to singletons. Compared with IVF without ICSI with fresh embryo transfer, there were statistically significantly increased risks of autistic disorder following

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Science.gov (United States)

Coccia, Margherita; Brooks, Simon P; Webb, Tom R; Christodoulou, Katja; Wozniak, Izabella O; Murday, Victoria; Balicki, Martha; Yee, Harris A; Wangensteen, Teresia; Riise, Ruth; Saggar, Anand K; Park, Soo-Mi; Kanuga, Naheed; Francis, Peter J; Maher, Eamonn R; Moore, Anthony T; Russell-Eggitt, Isabelle M; Hardcastle, Alison J

2009-07-15

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

Skin mastocytosis, hearing loss and mental retardation

NARCIS (Netherlands)

Hennekam, R. C.; Beemer, F. A.

1992-01-01

A girl with skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features and severe mental retardation is described. The symptoms of the child resemble those reported in 1990 by Wolach et al. in another patient sufficiently to suspect the same entity in both. Inheritance may be autosomal

Computer Needs of Severely Mentally Retarded Persons.

Science.gov (United States)

Flanagan, Kelly

1982-01-01

The article reviews technology applicable for use by severely mentally retarded learners. Descriptions are given of assistive devices (including communication aids), controls and interfaces (such as single switch access to standard software), and software (including games to teach cause and effect and simple matching and counting). (CL)

Individuals with Mental Retardation and the Criminal Justice System: The View from States' Attorneys General.

Science.gov (United States)

McAfee, James K.; Gural, Michele

1988-01-01

Results of a survey of state attorneys general (N=46) found that, with few exceptions, identification of persons with mental retardation in criminal justice is neither systematic nor probable. Protections lie in statutes pertaining to mental illness rather than to mental retardation. (Author/DB)

Chromosomal investigations in patients with mental retardation and/or congenital malformations

Directory of Open Access Journals (Sweden)

Santos C.B.

2000-01-01

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

Short-Term Memory for Movement Duration in Mentally Retarded and Nonretarded Adults.

Science.gov (United States)

Elliott, Digby; Grundy, Stephen B.

1984-01-01

Both retarded and nonretarded adults (N=26) failed to benefit from opportunities to mentally rehearse their criterion movement over the retention interval, suggesting that strategic differences between the groups cannot explain the poorer performances of the retarded Ss. The retarded Ss appeared to have problems remembering the sensory…

Megavitamin treatment of mental retardation in children: a review of effects on behavior and cognition.

Science.gov (United States)

Kozlowski, B W

1992-01-01

ABSTRACT Many forms of vitamin supplementation have been proposed for the treatment of behavioral and cognitive disorders in children with mental retardation. Except for nutrient deficiencies and selected inborn errors of metabolism, the efficacy of these treatments has not been established. Therapeutic supplementation with vitamin B(6) in Down syndrome and folie acid in fragile X syndrome was attempted following the identification of apparent biochemical aberrations involving the nutrients. Double-blind controlled trials have revealed no evidence that B(6) treatment was effective in Down syndrome. Very limited evidence, only among prepubertal subjects, suggested that behaviors improved with folie acid treatment in fragile X syndrome. There is less clarity of the scientific rationales for various combinations of vitamins (or vitamins and minerals) that have been promoted according to the concept of orthomolecular medicine. Well-designed controlled studies, with data presented in conformity with generally accepted scientific standards, have not supported the efficacy of megadose supplementation with 1) multivitamins in cognitive disabilities or attention deficit disorders, or 2) multivitamins and minerals in Down syndrome or other forms of mental retardation. Insufficient data are available to support claims made for vitamin B(6) and magnesium supplementation in autism. Research in the larger field of nutrient-behavior research has reinforced the need for studies to be more rigorously designed and to draw on the expertise of multiple disciplines. Evidence of toxic effects of nutrients continues to accrue, reinforcing the fact that megadoses should not be used indiscriminately or without physician monitoring. For children with mental retardation generally, assuring that established nutritional needs are met warrants primary consideration.

Airway Management in a Mental Retardation Patient with Temporo-mandibular Joint Ankylosis

Directory of Open Access Journals (Sweden)

Rauf GÜL

2012-01-01

Full Text Available Temporo-mandibular joint (TMJ ankylosis makes it impossible orotracheal intubation for general anesthesia because of limited mouth opening. We applied a nasotracheal intubation via fiberoptic bronchoscopy (FOB guidance on a 36 years old mental retarded (MR patient with bilateral TMJ, having extremely limited mouth opening. As a result, nasotracheal intubation via FOB is reliable technique on even mental retarded patients with extremely limited opening.

Of Atkins and men: deviations from clinical definitions of mental retardation in death penalty cases.

Science.gov (United States)

Blume, John H; Johnson, Sheri Lynn; Seeds, Christopher

2009-01-01

Under Atkins v. Virginia, the Eighth Amendment exempts from execution individuals who meet the clinical definitions of mental retardation set forth by the American Association on Intellectual and Developmental Disabilities and the American Psychiatric Association. Both define mental retardation as significantly subaverage intellectual functioning accompanied by significant limitations in adaptive functioning, originating before the age of 18. Since Atkins, most jurisdictions have adopted definitions of mental retardation that conform to those definitions. But some states, looking often to stereotypes of persons with mental retardation, apply exclusion criteria that deviate from and are more restrictive than the accepted scientific and clinical definitions. These state deviations have the effect of excluding from Atkins's reach some individuals who plainly fall within the class it protects. This article focuses on the cases of Roger Cherry, Jeffrey Williams, Michael Stallings, and others, who represent an ever-growing number of individuals inappropriately excluded from Atkins. Left unaddressed, the state deviations discussed herein permit what Atkins does not: the death-sentencing and execution of some capital defendants who have mental retardation.

Improving Outcomes for Workers with Mental Retardation

Science.gov (United States)

Fornes, Sandra; Rocco, Tonette S.; Rosenberg, Howard

2008-01-01

This research presents an analysis of factors predicting job retention, job satisfaction, and job performance of workers with mental retardation. The findings highlight self-determination as a critical skill in predicting the three important employee outcomes. The study examined a hypothesized job retention model and the outcome of the three…

Genetic Issues in Mental Retardation, 1996-1997.

Science.gov (United States)

Genetic Issues in Mental Retardation, 1996

1996-01-01

This document consists of the first six issues of a newsletter, which discusses current knowledge about and concerns related to genetics and mental retardation. The second issue addresses the problem of genetic discrimination. The third issue considers genetic testing, screening, and counseling. The fourth issue addresses genetic privacy issues.…

Euthanasia and Mental Retardation: Suggesting the Unthinkable.

Science.gov (United States)

Hollander, Russell

1989-01-01

The article examines current opinions toward euthanasia of persons with mental retardation in light of the history of public and professional attitudes. It also discusses the rejection of euthanasia on moral and religious grounds, and notes the use of lifelong incarceration, based on eugenics principles, to accomplish similar ends. (DB)

Hypothesis: A Role for Fragile X Mental Retardation Protein in Mediating and Relieving MicroRNA-Guided Translational Repression?

Directory of Open Access Journals (Sweden)

Isabelle Plante

2006-01-01

Full Text Available MicroRNA (miRNA-guided messenger RNA (mRNA translational repression is believed to be mediated by effector miRNA-containing ribonucleoprotein (miRNP complexes harboring fragile X mental retardation protein (FMRP. Recent studies documented the nucleic acid chaperone properties of FMRP and characterized its role and importance in RNA silencing in mammalian cells. We propose a model in which FMRP could facilitate miRNA assembly on target mRNAs in a process involving recognition of G quartet structures. Functioning within a duplex miRNP, FMRP may also mediate mRNA targeting through a strand exchange mechanism, in which the miRNA* of the duplex is swapped for the mRNA. Furthermore, FMRP may contribute to the relief of miRNA-guided mRNA repression through a reverse strand exchange reaction, possibly initiated by a specific cellular signal, that would liberate the mRNA for translation. Suboptimal utilization of miRNAs may thus account for some of themolecular defects in patients with the fragile X syndrome.

Etiological Study of Mental Retardation in Budapest, Hungary.

Science.gov (United States)

Czeizel, A.; And Others

1980-01-01

The first complex etiological study of mental retardation in Budapest was carried out with 1,364 children ages 7 to 14 years. Results are compared with findings from previous surveys in the United States and the United Kingdom. (Author)

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

DEFF Research Database (Denmark)

Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

2007-01-01

MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

Haspeslagh syndrome without severe mental retardation and pterygia?

NARCIS (Netherlands)

van Bever, Y.; Hennekam, R. C.

1995-01-01

An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier, but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this

Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

OpenAIRE

Houge, G.; Rasmussen, I.H.; Hovland, R.

2011-01-01

In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.

Science.gov (United States)

Ouvrier, Robert; Geevasingha, Nimeshan; Ryan, Monique M

2007-08-01

The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-Tooth neuropathies) are the most common degenerative disorders of the peripheral nervous system. In recent years a dramatic expansion has occurred in our understanding of the molecular basis and cell biology of the recessively inherited demyelinating and axonal neuropathies, with delineation of a number of new neuropathies. Mutations in some genes cause a wide variety of clinical, neurophysiologic, and pathologic phenotypes, rendering diagnosis difficult. The X-linked forms of HMSN represent at least 10%-15% of all HMSNs and have an expanded disease spectrum including demyelinating, intermediate, and axonal neuropathies, transient central nervous system (CNS) dysfunction, mental retardation, and hearing loss. This review presents an overview of the recessive and X-linked forms of HMSN observed in childhood, with particular reference to disease phenotype and neurophysiologic and pathologic abnormalities suggestive of specific diagnoses. These findings can be used by the clinician to formulate a differential diagnosis and guide targeted genetic testing.

SELF-HELP GROUPS FOR PARENTS WITH MENTALLY RETARDED CHILDREN

Directory of Open Access Journals (Sweden)

Vaska STANCHEVA-POPKOSTADINOVA

1997-09-01

Full Text Available This presentation concerns a group for parents of mentally retarded children.A group of these parents receives professional help and environmental support. The parents are encouraged to assume responsibility in the everyday life educational process of their children.As Baker / 1980 / states: “ If parents cope better on daily basis with the child who has mental retardation, not only the child but also the parents would benefit”.Taking part in the group gave the parents:· the opportunity to meet other parents with the same children;· to talk to other parents and feel less isolated;· to share information and experiences, skills and ideas;· the opportunity to listen to the needs and problems of other parents;· to change the ways of working to meet the child’s needs;· share information about the possibilities of education and services;· parents are encouraged to meet together to support one another;· parents need a special approach to many problems existing in their families.· the education in the group puts the beginning of the work with the parents.The idea is to gather the efforts of specialists from different fields and to establish multi-disciplinary group aiming to work with the parents and create a good collaboration and partnership between them in order to improve the living conditions and services to the retarded persons.This paper reports on the development, evaluation and dissemination of the program for education of parents with mentally retarded children. At the Symposium we will be able to present the results of the effectiveness of the education.

A mentally retarded patient with schizophrenia.

Science.gov (United States)

Rabia, K; Khoo, Em

2008-01-01

Schizophrenia is one of the most incapacitating forms of mental disorder that runs a chronic and relapsing course. It typically starts in adolescence or early adulthood and can be life-long. It is more common in people with learning disabilities than in the general population. Its prodromal features include depression, anxiety, suspiciousness, social isolation and bizarre behaviour. It may result in significant functional, social and economic impairments. The care of patients with schizophrenia places a considerable burden on all carers including patient's family, health and social services. Treatment includes pharmacotherapy and psychosocial interventions. In this case report we describe a thirteen-year-old patient with schizophrenia who has a background history of mental retardation.

A MENTALLY RETARDED PATIENT WITH SCHIZOPHRENIA

Directory of Open Access Journals (Sweden)

KHOO EM

2008-01-01

Full Text Available Schizophrenia is one of the most incapacitating forms of mental disorder that runs a chronic and relapsing course. It typically starts in adolescence or early adulthood and can be life-long. It is more common in people with learning disabilities than in the general population. Its prodromal features include depression, anxiety, suspiciousness, social isolation and bizarre behaviour. It may result in significant functional, social and economic impairments. The care of patients with schizophrenia places a considerable burden on all carers including patient’s family, health and social services. Treatment includes pharmacotherapy and psychosocial interventions. In this case report we describe a thirteen-year-old patient with schizophrenia who has a background history of mental retardation.

C syndrome with skeletal anomalies, mental retardation, eyelid ...

African Journals Online (AJOL)

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child. ... broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect.

Allocation of Attention and Effect of Practice on Persons with and without Mental Retardation

Science.gov (United States)

Oka, Kohei; Miura, Toshiaki

2008-01-01

Persons with mild and moderate mental retardation and CA-matched persons without mental retardation performed a dual-task, "pencil-and-paper task" (Baddeley, Della Sala, Gray, Papagno, & Spinnler (1997). Testing central executive functioning with a pencil-and-paper test. In Rabbit (Ed.), Methodology of Frontal and Executive Function (pp. 61-80).…

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Science.gov (United States)

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

NARCIS (Netherlands)

Hennekam, R. C.; Geerdink, R. A.; Hamel, B. C.; Hennekam, F. A.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. A.

1989-01-01

We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Science.gov (United States)

Jensen, Lars R; Chen, Wei; Moser, Bettina; Lipkowitz, Bettina; Schroeder, Christopher; Musante, Luciana; Tzschach, Andreas; Kalscheuer, Vera M; Meloni, Ilaria; Raynaud, Martine; van Esch, Hilde; Chelly, Jamel; de Brouwer, Arjan P M; Hackett, Anna; van der Haar, Sigrun; Henn, Wolfram; Gecz, Jozef; Riess, Olaf; Bonin, Michael; Reinhardt, Richard; Ropers, Hans-Hilger; Kuss, Andreas W

2011-01-01

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability. PMID:21267006

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

Science.gov (United States)

Lagerström-Fermér, M; Sundvall, M; Johnsen, E; Warne, G L; Forrest, S M; Zajac, J D; Rickards, A; Ravine, D; Landegren, U; Pettersson, U

1997-01-01

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary. Images Figure 2 PMID:9106538

Fetishistic transvestism in a patient with mental retardation and psychosis.

Science.gov (United States)

Velayudhan, Rajmohan; Khaleel, Asfia; Sankar, Nideesh; Kumar, Manoj; Kazhungil, Firoz; Raghuram, Thazhe Mangool

2014-04-01

Fetishistic transvestism is a disorder of sexual preference associated with fantasies and sexual urges to dress in opposite gender clothing as a means of arousal and as an adjunct to masturbation and coitus. The disorder has been reported in people with learning disabilities. The disorder has been reported in a young male with dull normal intelligence. Transvestism though has been described in schizophrenia and psychosis and fetishism has been described in the course of simple schizophrenia, there are no reports of fetishistic transvestism in a patient with mental retardation and psychosis. A case of fetishistic transvestism in a patient with mental retardation and psychosis with treatment and relevant review of literature is reported.

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

OpenAIRE

Lee, Jin Hwan; Kim, Hyo Jeong; Yoon, Jung Min; Cheon, Eun Jung; Lim, Jae Woo; Ko, Kyong Og; Lee, Gyung Min

2016-01-01

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cas...

Mental retardation in children exposed in utero to the atomic bomb - Hiroshima and Nagasaki

Energy Technology Data Exchange (ETDEWEB)

Wood, J W; Johnson, K G; Omori, Yoshiaki; Kawamoto, Sadahisa; Keehn, R J

1966-05-19

Subjects who were exposed in utero to the atomic bombs in Hiroshima and Nagasaki, along with suitable controls, are examined annually at ABCC. Of the 1613 subjects in the study sample, 30 have gross mental retardation. Within 1500 m from the hypocenter the prevalence of mental retardation is 5 times as high as for the more distal subjects, and 6 to 15 weeks gestation was the most sensitive period. Even when subjects with possible explanations for their retardation are excluded the pattern of differences remains the same. All but two of the retarded subjects had a smaller than average head and for those who were within 1500 m this effect is accentuated. 17 references, 2 figures, 8 tables.

USAGE OF PICTOGRAMS TO INTRODUCE MUSICAL INSTRUMENTS TO EDUCABLE MENTALLY RETARDED CHILDREN AS AN ALTERNATIVE METHOD

Directory of Open Access Journals (Sweden)

Gunsu YILMA

2014-01-01

Full Text Available The purpose of this research is to examine and investigate the perception ability of musical instruments of educable mentally retarded children with the support of visual elements. The research is conducted for every children individually in a special education and rehabilitation centre. The problematic of this research is the level of perception ability of musical instruments with visual support on mild mentally retarded children. In this research, perception ability of defining pictograms by music is introduced as an alternative method. It is researched that how educable mentally retarded children perceive pictograms by music tools. In this case, it is aimed to introduce musical instruments to educable mentally retarded children by pictograms with music. The research is applied with a qualitative approach. Data were obtained with the recorder, then they were turned into texts and analyzed with content analysis method.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

NARCIS (Netherlands)

Krawitz, P.M.; Schweiger, M.R.; Rodelsperger, C.; Marcelis, C.L.M.; Kolsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Kohler, S.; Jager, M. de; Grunhagen, J.; Condor, B.J. de; Doelken, S.; Brunner, H.G.; Meinecke, P.; Passarge, E.; Thompson, M.D.; Cole, D.E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P.N.

2010-01-01

Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational

Horticultural Careers for Persons with Mental Retardation. Expanding Opportunities.

Science.gov (United States)

Dehart-Bennett, Mary E.; Relf, Diane

1990-01-01

Horticulture careers provide therapeutic, rewarding employment for persons with mental retardation. Rehabilitation experts should become aware of the potential employment opportunities in horticulture so that individuals with disabilities can receive the training and job placement support they need. (Author)

Interference and Inhibition in Tasks of Selective Attention by Persons with and without Mental Retardation

Science.gov (United States)

Merrill, Edward C.

2006-01-01

Persons with mental retardation often exhibit greater interference in visual selective attention tasks than do persons matched with them on CA. My goal here was to evaluate whether differences in distractor interference between persons with and without mental retardation may be related to differences in negative priming. Fifteen participants with…

Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

Science.gov (United States)

Houge, G; Rasmussen, I H; Hovland, R

2012-01-01

In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

Energy Technology Data Exchange (ETDEWEB)

Jouet, M.; Kenwick, S. [Univ. of Cambridge (United Kingdom); Moncla, A. [Hopital d`Enfants de la Timone, Marseillas (United Kingdom)] [and others

1995-06-01

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.

Neglected and Abused Children of Mentally Retarded Parents.

Science.gov (United States)

Seagull, Elizabeth A. W.; Scheurer, Susan L.

1986-01-01

Follow-up of 64 neglected and abused children, seen one to seven years earlier, with mentally retarded parent revealed that six children had been relinquished voluntarily for adoption; that courts had terminated parental rights for 34 children; and that nine had been placed in foster care. Cognitive limitations prevented parents from utilizing…

The PDD-MRS : An instrument for identification of autism spectrum disorders in persons with mental retardation

NARCIS (Netherlands)

Kraijer, D; de Bildt, A

The Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS) is described. The PDD-MRS is a simple classification and screening instrument devised for identification of autistic disorders (of the entire spectrum) in persons with mental retardation from mild to profound

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

LENUS (Irish Health Repository)

Reardon, William

2010-08-01

Localised duplications, involving the MECP2 locus, at Xq28 have been associated with a syndrome comprising X-linked mental retardation, hypotonia and recurrent infections in males. We now present neuroradiological evidence that progressive cerebellar degenerative changes may also be a consistent feature of this syndrome, emerging in the second decade of life. We report seven affected males, from three different families who, in addition to the previously described clinical findings, have a reduction in the volume of the white matter and mild dilatation of the lateral ventricles. Three of the older patients show a consistent cerebellar degenerative phenotype. Furthermore, we describe the first female affected with the disorder. The female was mildly affected and shows X-inactivation in the ratio of 70:30, demonstrating that X-inactivation cannot be exclusively relied upon to spare the female carriers from symptoms. In conclusion, there is a radiological phenotype associated with Xq28 duplication which clearly demonstrates progressive degenerative cerebellar disease as part of the syndrome.

Parent’s Mentally Retarded Child Psycho-Social Problems Covered by Welfare Centers Khorramabad 2013

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Farideh Malekshahi

2016-12-01

Full Text Available Background :Mentally retarded child, the family put in a lot of trouble that most of the parents felt. Therefore, understanding and correct identification of problems and related factors are essential to help and support them. Therefore, this study cross sectional analytical descriptive carried out to determine parent’s mentally retarded  child psycho-social problems under covering welfare centers Khorramabad 2013. Materials and Methods: In this study samples were collected from parents of all mental retarded children. The data collection tools were including demographic questionnaires, mental and social problems. 144 questionnaires were completed by every parent. Validity and reliability were got by content validity and were gathered of data in the one stage and data were analyzed by SPSS software version 16. Results: The results showed that all parent had psycho-social problems, but the mothers of the large number of roles in the family had an average of more mother’s emotional and social problems1/46±0/55, 1/54±0/69 and father’s 1/43±0/74, 1/36±0/55. There was significant relationship between parental education and disable child gender. Discussion: The effect of disability on parents depends on their potency and capacity. It seems to reduce of parents of children with mental retarded, they need to services and full support.

Processing and Testing the Quality of Life in Families with Mentally Retarded Children

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S Askari Shahed

2016-06-01

Full Text Available Background & aim: Mentally retarded children need more care on quality of life, therefore the family plays an important role, but the results indicate low levels of quality of life for these children and their families. The present study aimed to measure the quality of life in mothers of educable mentally retarded daughter motivated provide a model to measure quality of life and understanding of issues affecting the design. An attempt to investigate and describe the factors affecting the quality of family life with a disability and the relationship between these indicators and how to measure them families with children with mental retardation.   Methods: The research method was descriptive-analytic. The sample consisted of 75 mothers with a mentally retarded daughter who were participated in this study through census sampling. By studying literature, the related texts criteria of quality of life were extracted. All study information of participants was obtained by standard questionnaires. Using correlation analysis techniques, univariate regression, logistic regression analysis were analyzed through structural equations.   Results: The results indicated that the performance of family (family interactions, parenting, mental health and physical capabilities mother (resilience and aggression, personal beliefs and quality of life of families with disabled children influenced it. Personal beliefs are an important determinant of quality of life.   Conclusion: The results of structural equation modeling and corresponding indexes indicated that the proposed model based on experimental data fitting was good and desirable product was in compliance with the conceptual model.    

Visual evoked potentials of mildly mentally retarded and control children.

Science.gov (United States)

Gasser, T; Pietz, J; Schellberg, D; Köhler, W

1988-10-01

Visual evoked potentials (VEPs) were recorded from 25 10- to 13-year-old mildly mentally retarded children and compared with those from 31 control children of the same age-range. Correlations of VEPs with age were weak, but a relationship between VEPs and IQ was demonstrated for the control group. The retarded group had significantly longer latencies and higher amplitude peaks than the control group, with the differences occurring primarily over non-specific cortex and for secondary components. Analysis also showed that the retarded group were neurophysiologically heterogeneous. Since the same children had been analyzed earlier by quantitative EEG methods, comparisons are made with respect to these two methods of investigating brain function.

PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION.

Science.gov (United States)

CENTERWALL, WILLARD R.; CENTERWALL, SIEGRIED A.

ADDRESSED TO PUBLIC HEALTH WORKERS AND PHYSICIANS IN GENERAL PRACTICE, THE PAMPHLET INTRODUCES METHODS OF DETECTING AND MANAGING PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION. INFORMATION, UPDATED FROM THE 1961 EDITION, IS INCLUDED ON THE INCIDENCE AND GENETICS, BIOCHEMISTRY, AND CLINICAL COURSE OF THE…

Occupational Interests and Mentally Retarded People: Review and Recommendations.

Science.gov (United States)

Stodden, Robert A.; And Others

1979-01-01

The article reviews several studies regarding the choice of occupational interests for the mentally retarded adolescent. Several concerns about current evaluation practices are discussed. Recommendations are offered for a client centered, developmental model, making the evaluation of occupational interests a viable part of the client's…

Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy

NARCIS (Netherlands)

Hennekam, R. C.; Renckens-Wennen, E. G.

1990-01-01

We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases

Effects of visual arts instruction on the mental health of adults with mental retardation and mental illness.

Science.gov (United States)

Malley, Sharon M; Dattilo, John; Gast, David

2002-08-01

Single-subject multiple probe designs were employed in two studies with 5 young adults who had a dual diagnosis of mental retardation and mental illness. Our aim was to determine effects of instruction designed to teach visual arts activity skills and promote personal expressiveness on acquisition, maintenance, and generalization of these skills and behaviors associated with these persons' mental health. In Study 1, a 5-second constant time delay procedure was used to teach three chosen art activities. In Study 2, an instructional package was used to promote personally expressive behaviors. After learning the skills in Study 1, participants in Study 2 displayed improvement in occurrence of behaviors associated with mental illness and increases in personally expressive behaviors.

The Instructional Use of CAI in the Education of the Mentally Retarded.

Science.gov (United States)

Winters, John J., Jr.; And Others

Computer assisted instruction (CAI) studies with the mentally retarded in the United States and Canada reveal that the retarded benefit from CAI in academic and social skills. Their learning is enhanced to the same extent as that of the nonretarded. CAI can be cost-effective, especially with the reduced costs of mini and micro-computers; however,…

A Job Retention Model for Individuals with Mental Retardation

Science.gov (United States)

Fornes, Sandra

2006-01-01

This structured literature review examines the literature and addresses issues of job retention for adult workers with moderate to mild mental retardation (MR), investigating the relationships between work-related social behaviors, self-determination, person-job congruency of individuals with MR, and their job performance and job satisfaction with…

Establishing Mental Retardation in Capital Cases: A Potential Matter of Life and Death.

Science.gov (United States)

Baroff, George S.

1991-01-01

This paper discusses psychological test obstacles to gaining the acceptance of a diagnosis of mental retardation in criminal defendants, use of the Revised Beta intelligence test with defendants who may be retarded, possible modification of the adaptive behavior criterion for criminal defendants, and appropriateness of the death penalty for…

Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.

NARCIS (Netherlands)

Buggenhout, G.J.C.M. van; Trijbels, J.M.F.; Wevers, R.A.; Trommelen, J.C.M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

2001-01-01

In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder

Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.

Directory of Open Access Journals (Sweden)

Jun Xu

Full Text Available Jarid1c, an X-linked gene coding for a histone demethylase, plays an important role in brain development and function. Notably, JARID1C mutations cause mental retardation and increased aggression in humans. These phenotypes are consistent with the expression patterns we have identified in mouse brain where Jarid1c mRNA was detected in hippocampus, hypothalamus, and cerebellum. Jarid1c expression and associated active histone marks at its 5'end are high in P19 neurons, indicating that JARID1C demethylase plays an important role in differentiated neuronal cells. We found that XX mice expressed Jarid1c more highly than XY mice, independent of their gonadal types (testes versus ovaries. This increased expression in XX mice is consistent with Jarid1c escape from X inactivation and is not compensated by expression from the Y-linked paralogue Jarid1d, which is expressed at a very low level compared to the X paralogue in P19 cells. Our observations suggest that sex-specific expression of Jarid1c may contribute to sex differences in brain function.

Learning and memory deficits consequent to reduction of the fragile X mental retardation protein result from metabotropic glutamate receptor-mediated inhibition of cAMP signaling in Drosophila.

Science.gov (United States)

Kanellopoulos, Alexandros K; Semelidou, Ourania; Kotini, Andriana G; Anezaki, Maria; Skoulakis, Efthimios M C

2012-09-19

Loss of the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased protein levels present with a subset of these symptoms and tremor. The broad range of behavioral deficits likely reflects the ubiquitous distribution and multiple functions of the protein. FMRP loss is expected to affect multiple neuronal proteins and intracellular signaling pathways, whose identity and interactions are essential in understanding and ameliorating FXS symptoms. We used heterozygous mutants and targeted RNA interference-mediated abrogation in Drosophila to uncover molecular pathways affected by FMRP reduction. We present evidence that FMRP loss results in excess metabotropic glutamate receptor (mGluR) activity, attributable at least in part to elevation of the protein in affected neurons. Using high-resolution behavioral, genetic, and biochemical analyses, we present evidence that excess mGluR upon FMRP attenuation is linked to the cAMP decrement reported in patients and models, and underlies olfactory associative learning and memory deficits. Furthermore, our data indicate positive transcriptional regulation of the fly fmr1 gene by cAMP, via protein kinase A, likely through the transcription factor CREB. Because the human Fmr1 gene also contains CREB binding sites, the interaction of mGluR excess and cAMP signaling defects we present suggests novel combinatorial pharmaceutical approaches to symptom amelioration upon FMRP attenuation.

The Mentally Retarded and the Educational System in Denmark.

Science.gov (United States)

Finkelstein, Harry

The history of educational services for mentally retarded persons in Denmark is traced, along with the evolution of attitudes toward the population from a protectionist philosophy which promoted segregation to current thinking about normalization. The role of the national parents' association in influencing service review and reform is stressed.…

HIV and AIDS Awareness among Children with Mental Retardation ...

African Journals Online (AJOL)

Openness to the subject of sexuality and HIV and AIDS is considered as taboo in many African cultures. To persons with disabilities, let alone individuals with mental retardation, sexuality and HIV are still areas of grave concern, which still require further study and investigation, hence the interest in the present study.

Task Monotony and Performance Efficacy of Mentally Retarded Young Adults.

Science.gov (United States)

Locke, Bill J.; And Others

1982-01-01

Thirty-six mildly mentally retarded young adults were exposed to one of three training arrangements for vigilance performance, a monitoring task that some professionals consider uniquely appropriate for such persons because they are assumed to be less susceptible to boredom. (Author)

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Directory of Open Access Journals (Sweden)

Weigel Corina

2005-04-01

Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

KAUST Repository

Altawashi, Azza

2012-02-28

Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

Characterization of Mental Retardation and Autism in Children's Books.

Science.gov (United States)

Dyches, Tina Taylor; Prater, Mary Anne; Cramer, Sharon F.

2001-01-01

A study involving 12 books, six picture books and six chapter books, examined how individuals with mental retardation and autism are depicted in children's literature. Results indicate characters were portrayed as making more choices in their lives and were educated in more inclusive environments than in an earlier study. (Contains references.)…

Short-Term Memory for Pictures and Words by Mentally Retarded and Nonretarded Persons.

Science.gov (United States)

Ellis, Norman R.; Wooldridge, Peter W.

1985-01-01

Twelve mentally retarded and 12 nonretarded adults were compared in a Brown-Peterson short-term memory task for the retention of words and pictures over intervals up to 30 seconds. The retarded subjects forgot more rapidly over the initial 10 seconds. They also retained pictures better than they did words. (Author/DB)

Nutritional status of mentally retarded children in north-west Spain. I. Anthropometric indicators.

Science.gov (United States)

Sánchez-Lastres, J; Eirís-Puñal, J; Otero-Cepeda, J L; Pavón-Belinchón, P; Castro-Gago, M

2003-06-01

To evaluate the nutritional status of mentally retarded children in the region of Galicia in north-west Spain, on the basis of anthropometric variables. The following variables were determined in a sample of 128 mentally retarded children (81 M, 47 F): birthweight, bodyweight, height/length, head circumference, mid-arm circumference, mid-arm muscle circumference, triceps skinfold thickness, subscapular skinfold thickness, arm area, arm muscle area, arm fat area, arm lean-to-fat ratio, Shukla's nutrition index and Quetelet's body mass index (BMI). A preliminary statistical analysis indicated that most information content could be maintained considering only eight of these variables. A factor analysis of the resulting 8 x 128 (variables by subjects) data matrix was performed, identifying two factors (FA1 and FA2) that together explained 82% of total variance. Taking these factors as indicators of nutritional status, the data were analysed for possible effects of age, gender, socioeconomic and family environment, intelligence quotient (IQ), presence/absence of cerebral palsy, quality of diet, appetite and antiepileptic use. The analysis suggested that most subjects were in the normal nutrition range, but about 33% showed either borderline or definite malnutrition. Mean score on FA2 showed a significant negative correlation with age. Children with cerebral palsy had lower mean scores on both factors, and scores on both factors varied with IQ. Children with definite malnutrition had a significantly lower IQ than those in the normal nutrition range. Mean score on both factors varied with appetite and quality of diet. The mean FAI score of children from inland-rural areas was significantly lower than that of children from coastal or urban areas. Mean FA1 score increased with increasing age of the parents. The prevalence of obesity was 13% when obesity was defined on the basis of Shukla's nutrition index, and 19% when defined on the basis of FA1 score. Malnutrition as

Aging Parents with Adult Mentally Retarded Children: Family Risk Factors and Sources of Support.

Science.gov (United States)

Seltzer, Marsha Mailick; Krauss, Marty Wyngaarden

1989-01-01

Predictors of 4 indices of well-being (physical health, life satisfaction, burden, and parenting stress) were examined among 203 aging mothers of mentally retarded adults living at home. Predictive variables examined include maternal characteristics, retarded adult's characteristics, family social climate, mother's social support network, and…

Case Management for Individuals with Mental Retardation. ARC Facts.

Science.gov (United States)

Association for Retarded Citizens, Arlington, TX.

A question-and-answer format is used in this fact sheet to provide information on case management for individuals with mental retardation. The fact sheet describes the major components of a case management system, the role of the case manager, the individual's or family's role in case management, providers of case management services and systems…

Enhancing Free-Recall Rates of Individuals with Mental Retardation.

Science.gov (United States)

Carlin, Michael T.; Soraci, Sal A.; Dennis, Nancy A.; Chechile, Nicholas A.; Loiselle, Raquel C.

2001-01-01

This study with 16 adolescents with mental retardation compared free-recall rates under two encoding conditions: (1) fade-in, initially presenting pictures out of focus then slowly fading them into focus; and (2) fade-out, slowly blurring originally clear pictures. Results indicated that free-recall rates were greater for the fade-in items for…

Evaluation of Auditory Sensory Memory of Mentally Retarded and Nonretarded Persons.

Science.gov (United States)

Campbell, Edward M.; Meyer, Philip A.

1981-01-01

Performance of mildly mentally retarded and nonretarded persons was compared in two experiments designed to identify processes of auditory sensory memory. A theoretical model was proposed to incorporate the current pattern of results. (Author)

The Human Genome Project and Mental Retardation: An Educational Program. Final Progress Report

Energy Technology Data Exchange (ETDEWEB)

Davis, Sharon

1999-05-03

The Arc, a national organization on mental retardation, conducted an educational program for members, many of whom have a family member with a genetic condition causing mental retardation. The project informed members about the Human Genome scientific efforts, conducted training regarding ethical, legal and social implications and involved members in issue discussions. Short reports and fact sheets on genetic and ELSI topics were disseminated to 2,200 of the Arc's leaders across the country and to other interested individuals. Materials produced by the project can e found on the Arc's web site, TheArc.org.

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

DEFF Research Database (Denmark)

Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik

2007-01-01

Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...... generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient...

Behavioral Therapy of Phobias: A Case with Gynecomastia and Mental Retardation

Science.gov (United States)

Revenq, Bernard

1974-01-01

A 13-year-old boy, institutionalized for severe mental retardation, who was found to have obsessive tendencies and an IQ of 71 to 78, was systematically desensitized for phobias associated with ambigous sexual identity. (MC)

SOCIALIZATION INFLUENCE ON KNOWLEDGE DEVELOPMENT OF MEDIUM MENTALLY-RETARDED CHILDREN AND YOUTH

Directory of Open Access Journals (Sweden)

Zivko SOKOLOSKI

1999-05-01

Full Text Available The subjects of the research are mentally-retarded children and youth, and their possibilities in overcoming the programme contents from educational-upbringing area-SOCIAL DEVELOPMENT. The research has been conducted in Sremcica-Home for Mentally Disrupted Children and Youth. Results of the re­search presents approximately 50 percent of the positive accomplishments.The research has indicated to us that knowledge learned from a narrow environment (home, family are much better than ones learned from an expansive environment. By these facts we came to the conclusion that the adequate attention hasn’t been paid in realization of the programme contenses concerning familiarizing the expansive environment, especially in the charter SOCIAL INITIATIVE. We know that two basic goals in rehabilitation is not achieved too. However, the results of the research approve us that socialization has essential influence on the knowledge development of the medium mentally retarded

Effects of Different Variations of Mental and Physical Practice on Sport Skill Learning in Adolescents with Mental Retardation

Science.gov (United States)

Hemayattalab, Rasool; Movahedi, Ahmadreza

2010-01-01

The purpose of this study was to investigate the effect of five variations of imagery and physical practice on learning of Basketball free throws in adolescents with mental retardation (AWMR). Forty AWMR were randomly assigned to five groups and performed a variation of practice: physical practice, mental practice, physical practice followed by…

Career Development and Adults with Moderate to Severe Mental Retardation.

Science.gov (United States)

Wadsworth, John; Cocco, Karen

Lifelong career development activities may assist persons with more severe forms of mental retardation in achieving occupational tenure. Occupational tenure is important if individuals are to move away from a succession of entry-level employment. Adaptive career development strategies and techniques may prevent job dissatisfaction and poor…

Reducing Barriers to Sex Education for Adults with Mental Retardation.

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Huntley, Cristy F.; Benner, Susan M.

1993-01-01

Opinions of professionals from 16 agencies were obtained to identify techniques that agencies serving adults or adolescents with mental retardation could utilize to provide systematic sex education and counseling. Recommendations are offered in five areas: self-advocacy and self-determination, individual design, staff training and support,…

Factors which Motivate Job Acceptance and Profoundly Mentally Retarded Children.

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Marozas, Donald S.; May, Deborah C.

1980-01-01

The study involving 360 Pennsylvania teachers was designed to identify factors which motivate job acceptance among teachers of severely and profoundly mentally retarded children. The responses of 235 teachers indicated that challenge and practicum experiences were the two most prevalent motivational factors underlying job acceptance. (Author)

Definition of Terms in Mental Health, Alcohol Abuse, Drug Abuse, and Mental Retardation: Methodology Reports. Mental Health Statistics Series C, No. 8.

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National Inst. of Mental Health (DHEW), Rockville, MD.

This report seeks to define basic terms for use in mental health, alcoholism, drug abuse and mental retardation programs in order to achieve some progress toward a long-range goal of improved communication and exchange of information among concerned disciplines in these fields. While the report does represent the most complete and developed work…

Conceptual systems and teacher attitudes toward regular classroom placement of mildly mentally retarded students.

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Feldman, D; Altman, R

1985-01-01

The effects of a teacher personality construct (abstract vs. concrete conceptual system) and two pupil variables (race, school behavior) on 454 regular classroom teachers' attitudes toward mainstreaming were determined. Following administration of the Conceptual Systems Test, teachers were randomly assigned a profile of a mildly mentally retarded student that held pupil IQ and school achievement constant while varying pupil's race and school behavior. Subjects responded on an integration inventory comprised of three subscales: social-psychological classroom environment, self-actualization, and classroom cohesiveness. Results revealed a significant main effect on the behavior variable and a significant Personality X Race interaction on all inventory dimensions, suggesting that these teachers perceived maladaptive behavior of mainstreamed retarded students as a significant threat to a conducive instructional atmosphere and the capability of nonretarded students to achieve to their potential. These results have implications for inservice training for teachers based on the pupil race and teacher conceptual system findings.

The Effect of Core Stabilization Training Program on the Balance of Mentally Retarded Educable Students

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Hassan Daneshmandi

2013-10-01

Full Text Available Objective: The purpose of this study was to evaluate the effect of core stabilization training program on the balance of mentally retarded educable students. Materials & Methods: The research was use Application of Quasi-experimental design with pretest and posttest control group. Our subjects included 31 students boys mentally retarded in the two groups (control, 14 patients with a mean age of 11.07±3.02years, height 152±7.86cm, weight 44.07 ± 8.08kg and (17experimental group with a mean age 11.23 ± 1.95years, height 147±7.07cm, weighing 38.11±4.85kg of the sample selected. Demographic data includes: height, weight and medical records and also the IQ of them were collected. The training program of experimental group that for 6 weeks, 3 times a week in the first three weeks experimental group performed exercise the 2 sets with 5 repetitions and three the second week of 2 sets with 10 repetitions and for evaluate used the dynamic balance Y test. For analysis data used the paired T test and independent test. Results: Results showed significant differences in mean posterior-lateral and posterior-medial in the experimental group in post-test (P&le0.05. Conclusion: People with mental retardation compared with normal people have problems with delays in motor development that seems to cause deficit in the balance. Due to the lack of balance in the people with mental retarded and the importance of balance in daily activities and the effects of core stability training on the balance was showed this training improve balance in these individuals, on base of the results of this research the core stability exercises can be performed for mental retarded by coaches and teachers.

The Opinions and Attitudes of Mothers to Mental Retardation in ...

African Journals Online (AJOL)

Conclusion There is an increased pervasive attitude to children with mental retardation. Therefore, efforts aimed at changing parental and by extension societal attitudes toward these children are necessary for their care and survival. There is also need for government and charitable organizations to reach-out to parents of ...

Increasing Wearing of Prescription Glasses in Individuals with Mental Retardation

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DeLeon, Iser G.; Hagopian, Louis P.; Rodriguez-Catter, Vanessa; Bowman, Lynn G.; Long, Ethan S.; Boelter, Eric W.

2008-01-01

This study evaluated an intervention for promoting wearing of prescription glasses in 4 individuals with mental retardation who had refused to wear their glasses previously. Distraction through noncontingent reinforcement (NCR) increased independent glasses wearing for 1 of the 4 participants. An intervention consisting of NCR, response cost, and…

Game System for Rehabilitation Based on Kinect is Effective for Mental Retardation

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Fu Ying

2015-01-01

Full Text Available Kinect has already been widely used in the area of retardation, and this study is to evaluate whether the Game System for Rehabilitation based on Kinect is effective for children with mental retardation. The subjects in this paper are 112 children with mental retardation in Zhejiang province of China. The Game System for Rehabilitation based on Kinect was applied to assist the rehabilitation of children. Before the training, the Pediatric Evaluation of Disability Inventory (PEDI was used to evaluate abilities of children, including self-care, mobility, and social function. And after having been trained for a month, the abilities of these children were evaluated again by PEDI. The results in this paper is that, after the application of Game System for Rehabilitation based on Kinect, the PEDI score of children is significantly higher than the score before training. And it can be concluded that the Game System for Rehabilitation based on Kinect can significantly improve self-care, mobility, and social function of children with MR.

A Behavioral Weight Reduction Model for Moderately Mentally Retarded Adolescents.

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Rotatori, Anthony F.; And Others

1980-01-01

A behavioral weight reduction treatment and maintenance program for moderately mentally retarded adolescents which involves six phases from background information collection to followup relies on stimulus control procedures to modify eating behaviors. Data from pilot studies show an average weekly weight loss of .5 to 1 pound per S. (CL)

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)

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Saugier-Veber, P.; Abadie, V.; Turleau, C.; Munnich, A.; Lyonnet, S. (Hopital des Enfants Malades, Paris (France)); Moncla, A. (Centre de Genetique Medicale, Marseille (France)); Mathieu, M.; Piussan, C.; Mattei, J.F. (Centre Hospitalier et Universitaire, Amiens (France))

1993-06-01

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here the authors report on the genetic mapping of the Juberg-Marsidi gene to the proximal long arm of the X chromosome (Xq12-q21) by linkage to probe pRX214H1 at the DXS441 locus (Z = 3.24 at [theta] = .00). Multipoint linkage analysis placed the Juberg-Marsidi gene within the interval defined by the DXS159 and the DXYS1X loci in the Xq12-q21 region. These data provide evidence for the genetic distinction between Juberg-Marsidi syndrome and several other X-linked mental retardation syndromes that have hypogonadism and hypogenitalism and that have been localized previously. Finally, the mapping of the Juberg-Marsidi gene is of potential interest for reliable genetic counseling of at-risk women. 25 refs., 2 figs., 3 tabs.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

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Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria

2010-01-01

that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P......ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected...... 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating...

Oral rehabilitation and management of mentally retarded.

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Solanki, Jitender; Khetan, Jitendra; Gupta, Sarika; Tomar, Deepak; Singh, Meenakshi

2015-01-01

High level of periodontal problems of dental caries are frequently observed in mentally handicapped children. This group of patients presents various problems when they face dental treatments. Identification of such population and providing them affordable oral health care is the new concept. A systematic method for identification and screening of persons with mental retardation has been developed and is being followed. Cost and fear are the most commonly cited barriers to dental care. Physical or mental may lead to deterioration in self-care, and oral care state have a low priority. Risk factors are inter-related and are often barriers to oral health. With advancements in today's world sufficient information and support is available for each and every individual to lead a healthy life which include the access to the oral health care. Factors such as fear, anxiety and dental phobia plays a vital role in acceptance of dental care and also the delaying of dental care. Lack of knowledge of oral and dental disease, awareness or oral need, oral side-effects of medication and organization of dental services are highlighted in the literature. All health personnel should receive training to support the concept of primary oral health care. Training about dealing with such mentally handicapped people should be addressed urgently among the health professionals.

Investigation of the Effectiveness of the Story-Map Method on Reading Comprehension Skills among Students with Mental Retardation

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Isikdogan, Necla; Kargin, Tevhide

2010-01-01

The purpose of this study was to investigate the effectiveness of the story-map technique on reading comprehension skills among students with mild mental retardation. The research group consisted of 14 students with mild mental retardation. The students in the research group were chosen from students who attended to an elementary school and a…

Um modelo para orientação familial em oligofrenias A model for familial orientation on mental retardation

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Aguinaldo Gonçalves

1976-03-01

Full Text Available Após revisão de teorias e evidências sobre a etiologia das oligofrenias, são apresentados casos clínicos de oligofrênicos atendidos em serviço de Genética Médica, os quais servem de substrato para a proposição de um modelo de Aconselhamento Genético, que os classifica em ambiental, gênica, cromossômica, familial e idiopática.Theories and evidences on etiology of mental retardation are presented. Five cases of mental retardation from a Clinical Genetics Service are reported, as basis for an etiological model on mental retardation, quite operational in genetic counseling and familial orientation.

A Survey of School Psychologists' Practices for Identifying Mentally Retarded Students.

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Wodrich, David L.; Barry, Christine T.

1991-01-01

Surveyed school psychologists regarding identification of mentally retarded students. The Wechsler scales were the most frequently used tests for deriving intelligence quotient scores, which together with adaptive behavior scale scores were rated as most influential in identification-placement decisions. The Vineland Adaptive Behavior Scales were…

Dementia and Depression in Elders with Mental Retardation: A Pilot Study.

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Harper, Dennis C.; Wadsworth, John S.

1990-01-01

This article investigates cognitive decline and depressive symptomatology among older adults with mental retardation. A pilot study of assessment instruments is reported. Findings reveal that decreasing cognitive ability is associated with higher rates of observed depression and reported behavioral problems. Cognitive decline was associated with…

Applied Behavior Analysis: Its Impact on the Treatment of Mentally Retarded Emotionally Disturbed People.

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Matson, Johnny L.; Coe, David A.

1992-01-01

This article reviews applications of the applied behavior analysis ideas of B. F. Skinner and others to persons with both mental retardation and emotional disturbance. The review examines implications of behavior analysis for operant conditioning and radical behaviorism, schedules of reinforcement, and emotion and mental illness. (DB)

Psychological Aspects of Sleep Disorders in Children with Mental Retardation.

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Smith, David T.

This paper reviews literature and clinical experiences on the neurobiological and psychological aspects of sleep in children with mental retardation. The lack of a universal, operational definition of sleep disorders is noted, and a study is cited in which 61% of a group of 20 children (ages 2-13) with developmental disabilities were found to have…

Psychopathology in Children and Adolescents with ASD without Mental Retardation

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Caamaño, Marta; Boada, Leticia; Merchán-Naranjo, Jessica; Moreno, Carmen; Llorente, Cloe; Moreno, Dolores; Arango, Celso; Parellada, Mara

2013-01-01

This study analyzes subclinical psychopathology in children and adolescents with autism spectrum disorders (ASD) without mental retardation with no comorbid disorder, assessed by an extensive general psychopathology interview. The K-SADS-PL was administered to a group of 25 patients with ASD (mean age = 12.80 ± 2.86 years) and 25 healthy controls…

Contraception or eugenics? Sterilization and "mental retardation" in the 1970s and 1980s.

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Ladd-Taylor, Molly

2014-01-01

Nonconsensual sterilization is usually seen as the by-product of a classist and racist society; disability is ignored. This article examines the 1973 sterilization of two young black girls from Alabama and other precedent-setting court cases involving the sterilization of "mentally retarded" white women to make disability more central to the historical analysis of sterilization. It analyzes the concept of mental retardation and the appeal of a surgical solution to birth control, assesses judicial deliberations over the "right to choose" contraceptive sterilization when the capacity to consent is in doubt, and reflects on the shadow of eugenics that hung over the sterilization debate in the 1970s and 1980s.

Cardiovascular Disease Prevalence and Risk Factors of Persons with Mental Retardation

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Draheim, Christopher C.

2006-01-01

This paper reviews the recent literature on cardiovascular disease (CVD) prevalence, CVD-related mortality, physiological CVD risk factors, and behavioral CVD risk factors in adults with mental retardation (MR). The literature on the potential influences of modifiable behavioral CVD risk factors and the physiological CVD risk factors are also…

The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.

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Gericke, G S; Fialkov, J

1980-04-05

A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.

The Effect of 12 Weeks Dance Education on Physical Fitness Values At Mentally Retarded Children

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Asena DORSAN

2014-08-01

Full Text Available The purpose of the study was to examine the effect of 12 weeks of dance education on the values of physical fitness at children with mental retarded. 22 educable mentally retarded children from Dr. Günseli - Dr. Bülent Akınsal Secondary School and Working Sc hool participated in this study. Mentally Disabled children who participated voluntarily were grouped as the average age of 16.27± 1.00 year with11 people (9 males, 2females of the experimental group and the average age of 15.90± 0.83 year to 11people(7 males, 4 females as the control group. Participants in the experimental group was implemented 12 - weekdance education program including 2 days a week, 2 hours a day. Program contents included the basic posture correction, flexibility, ability to maintain a rhythm, motion diversity and self - expression skills, pair work and group work. Physical fitness values of experimental and control group were measured in before and after studies. After the 12 - week dance education, It was determined that there was st atistically significant differences in vertical jump, flexibility, sprint and balance parameters between the experimental and control groups.(p<0.05. In the study of comparing the experimental group in itself, statistically significant differences were fo und of the specified physical fitness parameters (p<0.01. As a result; physical fitness levels of the educable mentally retarded individuals who regularly participated in dance activities showed significant improvements. The results of this study, it was observed that after 12 - week education program there was more development of many physical fitness parameters in the experimental group than the control group and this revealed that the importance of dance education on educable mentally retarded children.

Molecular characterization of X chromosome fragility in idiopathic ...

African Journals Online (AJOL)

Background: Fragile X syndrome (FXS) is the most common form of inherited mental retardation. Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients is relatively high. Cytogenetic diagnosis of FXS is unreliable since it is ineffective for the diagnosis of premutated males or ...

Death penalty support for special offender populations of legally convicted murderers: juveniles, the mentally retarded, and the mentally incompetent.

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Boots, Denise Paquette; Heide, Kathleen M; Cochran, John K

2004-01-01

The U.S. Supreme Court recently re-examined the constitutionality of the death penalty in the context of two of three special offender populations of murderers (juveniles, mentally retarded, and mentally incompetent). The Court reaffirmed the imposition of the death penalty for juveniles 16 and 17, while reversing itself on the mentally retarded. In reaching its decision, the Court relied on society's "evolving standards of decency." Using Likert-type items, this study is the first to have prospective jurors assess support for the death penalty for these specific offender groups. The public's support for the execution of each of the groups is then compared with existing case law. Descriptive statistics and regression analyses indicate that, as expected, the levels of support for the applicability of capital punishment to the various special offender populations are much lower than that for the general adult offender. Moreover, these findings are congruent with the holdings of the Court with one notable exception: a slight majority of respondents supported executing the mentally incompetent. Reasons for the public's apparent departure from the Supreme Court holding prohibiting the execution of mentally incompetent convicted murderers are discussed. The Court's continued role in protecting marginalized populations from "cruel and unusual punishment" is explored in the context of strong public sentiment demanding justice and finality despite changes in offenders' mental capacity. Copyright 2003 John Wiley & Sons, Ltd.

18q- and 18q+ mosaicism in a mentally retarded boy

NARCIS (Netherlands)

Ausems, M. G.; Bhola, S. L.; Post-Blok, C. A.; Hennekam, R. C.; de France, H. F.

1994-01-01

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization

Comments on "Brain Size and Cerebral Glucose Metabolic Rate in Nonspecific Mental Retardation and Down Syndrome."

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Willerman, Lee; Schultz, Robert T.

1995-01-01

The relationship between mental retardation and brain size is discussed. Research suggests that a common path for many otherwise idiopathic mild retardation cases (genetic or environmental) could be small brain size, indicating reduced information processing capacity. Suggestions are made for further research on neuron number. (SLD)

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

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Fransen, E.; Vits, L.; Van Camp, G.; Willems, P.J. [Univ. of Antwerp (Belgium)

1996-07-12

Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes. 22 refs., 3 figs., 4 tabs.

Chorioretinal dysplasia-microcephaly-mental retardation syndrome : Another family with autosomal dominant inheritance

NARCIS (Netherlands)

Hordijk, R; VandeLogt, F; Houtman, WA; VanEssen, AJ

1996-01-01

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

NARCIS (Netherlands)

Marcelis, C.L.M.; Rieu, P.N.M.A.; Beemer, F.; Brunner, H.G.

2007-01-01

We report two sisters born to consanguineous parents with an identical syndrome consisting of severe mental retardation and epilepsy, hypoplastic terminal phalanges, and anteriorly displaced anus. Further metabolic and genetic testing failed to detect the etiology. A whole genome linkage scan showed

Reliability and Validity of the ‘‘Personal Well-Being Index- Cognitive Disability’’ on Mentally Retarded Students

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Alireza Agha Yousefi

2013-06-01

Full Text Available Objective:Having a good quality of life has always been desirable for humans, and the concept of a good life and the ways of achieving it have become important over the years. Personal wellbeing is the mental component of quality of life. Thus, the current study was conducted to assess the reliability and validity of the ‘‘Personal Well-Being Index- Cognitive Disability’’ on mentally retarded students.Method:200 mentally retarded students in north districts of Tehran (districts 1, 2 and 3 were selected by systematic random sampling. The collected data using Personal Well-Being Index- Cognitive Disability was analyzed by Cronbach’s alpha coefficient for internal consistency and linear multivariate regression for construct validity.Results:Results confirmed the reliability and validity for the Personal Well-Being Index- Cognitive Disability in mentally retarded students of exceptional schools. Studying the internal consistency of seven items showed that all the items were correlated with the total score and their scores averages were similar to each other. This indicates that the test’s questions have reliability with regard to evaluation of a common feature and results showed Personal Well-Being Index- Cognitive Disability had the most extensive coverage of construct validity .Conclusion:Personal Well-Being Index- Cognitive Disability scale could be applied to measure personal wellbeing in mentally retarded students.

Deceased loved ones in the dreams of mentally retarded adults.

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Turner, J L; Graffam, J H

1987-11-01

Dream reports were collected over a 10-year period as part of an ethnographic study of mentally retarded employees in a sheltered workshop. Deceased loved ones, usually parents or other family members, figured prominently as characters in many of these dreams. Dreams about the dead were often recurring and elicited salient emotional reactions from the dreamers. The various forms that these dreams take and their characteristic thematic content were described for 154 dreams by 60 dreamers. Some of the percepts and feelings that reflect the dreamers' understanding of their dreams were also noted. Findings reveal that the dream life of retarded adults is much more rich and diverse than previous studies suggest. Clinical implications and the occurrence of similar dreams among nonretarded persons were discussed.

Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome

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Yoichiro Oka

2011-10-01

Full Text Available Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful.

Investigating Ongoing Strategic Behaviour of Students with Mild Mental Retardation: Implementation and Relations to Performance in a Problem-Solving Situation

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Dermitzaki, Irini; Stavroussi, Panayiota; Bandi, Maria; Nisiotou, Ioulia

2008-01-01

The aim of this study was to investigate to what extent students with mild mental retardation exhibit strategic behaviour during problem solving and to investigate the relationships between the ongoing behaviours examined and the students' respective performance. Eleven students with non-organic mild mental retardation participated in the study.…

Predictors and Outcomes of the End of Co-Resident Caregiving in Aging Families of Adults with Mental Retardation or Mental Illness.

Science.gov (United States)

Seltzer, Marsha Mailick; Greenberg, Jan S.; Krauss, Marty Wyngaarden; Hong, Jinkuk

1997-01-01

Aging mothers who lived with an adult child experiencing mental retardation (n=308) or mental illness (n=73) were studied to determine the antecedents and consequences of the end of coresidence. Consequences of this transition with respect to maternal burden and depressive symptoms were similar for most participants. (Author/MKA)

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Science.gov (United States)

Hildebrand, Michael S; de Silva, Michelle G; Tan, Tiong Yang; Rose, Elizabeth; Nishimura, Carla; Tolmachova, Tanya; Hulett, Joanne M; White, Susan M; Silver, Jeremy; Bahlo, Melanie; Smith, Richard J H; Dahl, Hans-Henrik M

2007-11-01

X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with mental retardation (MR) for which no causative gene has been identified. The X-linked recessive inheritance and congenital nature of the syndrome was confirmed by detailed clinical investigation and the family history. Linkage mapping of the X-chromosome was conducted to ascertain the disease locus and candidate genes were screened by direct sequencing and STRP analysis. The recessive syndrome was mapped to Xp11.3-q21.32 and a deletion was identified in a regulatory region upstream of the POU3F4 gene in affected family members. Since mutations in POU3F4 cause deafness at the DFN3 locus, the deletion is the likely cause of the SNHL in this family. The choroideremia (CHM) gene was also screened and a novel missense change was identified. The alteration changes the serine residue at position 89 in the Rab escort 1 protein (REP-1) to a cysteine (S89C). Prenylation of Rab proteins was investigated in patients and the location of REP-1 expression in the brain determined. However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates. Copyright 2007 Wiley-Liss, Inc.

Symptoms of gastroesophageal reflux in severely mentally retarded people: a systematic review.

NARCIS (Netherlands)

Veer, A.J.E. de; Bos, J.; Niezen-de Boer, M.C.; Böhmer, C.J.M.; Francke, A.L.

2008-01-01

BACKGROUND: Gastroesophageal reflux disease (GERD) occurs when stomach acid frequently backs up (or refluxes) into the gullet (or esophagus), and it has serious consequences for the quality of life. Usually this is felt as heartburn. Because severely mentally retarded people usually do not utter

Teaching Community Survival Skills to Mentally Retarded Adults: A Review and Analysis.

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Martin, James E.; And Others

1982-01-01

The article reviews research on training mentally retarded adults in the following community survival skills: travel training, money management, meal preparation, clothing and personal care, telephone skill, housekeeping, self-medication, leisure skills, social skills, and conversation. Results are said to indicate the value of behavioral…

An outbreak of El Tor cholera in an institution for the mentally retarded in Nonthaburi, June-July 1987.

Science.gov (United States)

Swaddiwudhipong, W; Limpakarnjanarat, K

1991-06-01

In June and July 1987, an outbreak of cholera caused by V.cholerae O1, biotype El Tor, serotype Inaba, occurred in an institution for the mentally retarded in Nonthaburi. Of the 447 retarded inmates, 74 were found to be infected and one died. Epidemiological investigation revealed that the inmates with severe mental retardation who ate food in their own sleeping-room were significantly (p less than 0.001) more likely to be infected than those taking food in the dining-room. We hypothesize that the liquid diet commonly served to the more severely mentally retarded may have increased the risk of infection by more rapid gastric emptying. The long average period of time for meal consumption among these individuals may have allowed the organisms to multiply to a level capable of causing disease. Contamination of food with cholera might have occurred during food handling in the kitchen or within the sleeping-room where overcrowded conditions and poor personal hygiene facilitated person-to-person spread of infection. Prompt implementation of control measures effectively terminated cholera transmission in the outbreak.

Law & psychiatry: mental retardation and the death penalty: after Atkins.

Science.gov (United States)

Appelbaum, Paul S

2009-10-01

In Atkins v. Virginia the U.S. Supreme Court declared execution of persons with mental retardation to constitute cruel and unusual punishment, and thus to be unconstitutional under the Eighth Amendment. However, the Court left all considerations regarding how to implement the decision explicitly to the states. Since Atkins was decided in 2002, legislatures, courts, and mental health experts have struggled with its implementation, highlighting the complexities that can arise when the courts base legal rules on clinical findings. This column reviews the Atkins case and considers the challenges associated with a clinical determination that can have life-or-death consequences for capital defendants.

Chernobyl Nuclear Catastrophe and the High Risk Potential for Mental Retardation.

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Holowinsky, Ivan Z.

1993-01-01

This report considers potential effects of the 1986 nuclear explosion at the Chernobyl (Ukraine) nuclear reactor. Approximately 17 million people, of whom 2.5 million were below the age of 5, are thought to have suffered some radioactive contamination. Many of these children are at high risk for mental retardation and learning disorders.…

Depression and the Onset of Dementia in Adults with Mental Retardation.

Science.gov (United States)

Burt, Diana Byrd; And Others

1992-01-01

Comparison of 61 adults with Down's syndrome and 43 adults with mental retardation resulting from other causes found that 8 Down's syndrome adults had both depression and declines in functioning, whereas no adults in the other group showed functional declines. Greater severity of depression was related to poor functioning in adults with Down's…

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

NARCIS (Netherlands)

Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these

Current Trends in the Treament of Phobias in Autistic and Mentally Retarded Persons.

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Jackson, Henry J.

1983-01-01

The paper reviews research on phobic disorders of mentally retarded and autistic persons, noting the definitions, incidence and prevalence, etiological explanations, and treatment approaches. Methodological weaknesses are stressed. Behavioral interventions are seen as the treatments of choice. (CL)

Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome.

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Oka, Yoichiro; Masumoto, Kouji; Nakamura, Masatoshi; Iwasaki, Akinori

2011-10-01

Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful. Copyright © 2012. Published by Elsevier B.V.

MENTAL AND PSYCHOMOTOR RETARDATION IN EARLY CHILDHOOD: Overview and development of a protocol for neuropsychological assessment.

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María del Mar Sánchez-Joya

2010-12-01

Full Text Available Introduction: The last decades have brought great advances in the understanding of child neurodevelopment and knowledge of cognitive processes that occur in the brain from an early age. As a result and thanks to the large number of standardized and scientifically guaranteed neuropsychological tests that are available today, we can assess and diagnose with high specificity, deficits or delays in the acquisition of cognitive functions. Besides, it allows knowing the strengths or normality points of children with various pathologies. Objective: To present the concepts and a neuropsychological assessment protocol for mental retardation, pervasive developmental disorder and psychomotor retardation. Development: First, the authors present a general model of neuropsychological assessment in childhood. Second, he concept, classification and aetiology of mental retardation is revised and it is proposed a neuropsychological profile. Finally, the paradigms of pervasive developmental disorder and psychomotor retardation are shown. Conclusion: Based on standardized and validated test for child neuropsychological assessment, children cognitive disorders can be accurately identified to plan each child's cognitive stimulation, and thus optimize the results of the therapy.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

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Lambert, Sophie; Maystadt, Isabelle; Boulanger, Sébastien; Vrielynck, Pascal; Destrée, Anne; Lederer, Damien; Moortgat, Stéphanie

2016-10-01

Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males. However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (PPM-X syndrome; MIM3 #300055). Here we report on the identification of the p.Ala140Val mutation in the MECP2 gene in 4 males and 3 females of a large Caucasian family affected with X-linked intellectual disability. Females present with mild cognitive impairment and speech difficulties. Males have moderate intellectual disability, impaired language development, friendly behavior, slowly progressive spastic paraparesis and dystonic movements of the hands. Two of them show microcephaly. The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. We further delineate the phenotype associated with the p.Ala140Val mutation, illustrating a variable expressivity even within a given family, and we compare our patients with previous reported cases in the literature. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Spontaneous Eye-Blinking and Stereotyped Behavior in Older Persons with Mental Retardation

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Roebel, Amanda M.; MacLean, William E., Jr.

2007-01-01

Previous research indicates that abnormal stereotyped movements are associated with central dopamine dysfunction and that eye-blink rate is a noninvasive, in vivo measure of dopamine function. We measured the spontaneous eye-blinking and stereotyped behavior of older adults with severe/profound mental retardation living in a state mental…

An evaluation of in vivo desensitization and video modeling to increase compliance with dental procedures in persons with mental retardation.

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Conyers, Carole; Miltenberger, Raymond G; Peterson, Blake; Gubin, Amber; Jurgens, Mandy; Selders, Andrew; Dickinson, Jessica; Barenz, Rebecca

2004-01-01

Fear of dental procedures deters many individuals with mental retardation from accepting dental treatment. This study was conducted to assess the effectiveness of two procedures, in vivo desensitization and video modeling, for increasing compliance with dental procedures in participants with severe or profound mental retardation. Desensitization increased compliance for all 5 participants, whereas video modeling increased compliance for only 1 of 3 participants.

Investigation of the alteration of gray matter volume in children with mental retardation with the optimal voxel-based morphometry

International Nuclear Information System (INIS)

Yuan Xinyu; Xie Sheng; Xiao Jiangxi; Zhang Yuanzhe; Jiang Xuexiang; Jin Chunhua; Bai Zhenhua; Yi Xiaoli

2011-01-01

Objective: To detect brain structural difference between children with unexplained mental retardation and children with typically normal development. Methods: The high-resolution magnetic MR imaging were obtained from 21 children with unexplained mental retardation and 30 age-matched control children without intellectual disabilities. Voxel-based morphometry analysis with an optimization of spatial segmentation and normalization procedures were applied to compare differences of gray matter volume between the two groups. The total and regional gray matter volume were compared between the two groups with independent t test. Meanwhile, correlation was conducted to analyze the relationship between the total gray matter volume and intelligence quotient (IQ) with partial correlation test. Results: The total gray matter volume was significantly increased in the mental retardation children (1.012±0.079) × 10 6 mm 3 ] in relative to the controls [(0.956±0.059)×10 6 mm 3 , t=-2.80, P 0.05). Conclusions: VBM would detect the gray matter abnormalities that were not founded in routine MR scanning. The increase of gray matter volume in the frontal-thalamus network might indicate the delayed maturation of the brain development. This might be one of the causations of' mental retardation in children. (authors)

Examining a Proposed Job Retention Model for Adult Workers with Mental Retardation

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Fornes, Sandra L.

2008-01-01

This research provides an analysis of factors predicting job retention (JR), job satisfaction (JS), and job performance (JP) of workers with mental retardation (MR). The findings highlight self-determination as a critical skill in influencing three important employee's outcomes, JR, JS, and JP. The intent of the study was to develop job retention…

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

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Verloes, Alain; Bremond-Gignac, Dominique; Isidor, Bertrand; David, Albert; Baumann, Clarisse; Leroy, Marie-Anne; Stevens, René; Gillerot, Yves; Héron, Delphine; Héron, Bénédicte; Benzacken, Brigitte; Lacombe, Didier; Brunner, Han; Bitoun, Pierre

2006-06-15

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here. Copyright 2006 Wiley-Liss, Inc.

Mother\\'s Experiences of Having Mental Retarded Child

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Sima Mohammadkhan-Kermanshahi

2006-10-01

Full Text Available Objective: Giving birth and training to a child with Mental Retardation (MR can be stressful for mothers. Therefore mothers need role models and adequate preparation to effectively teach the child to function at optimum level within the environment. Nurses are in a strategic position to assume a vital role in a assisting these mothers. With observation, problem solving, and decision making. There is a lack of studies about mothers' experiences of having a child with MR. This study was preformed to investigate mother's experiences of having a child with MR and how explore and describe the experienced mothers with mental retarded child. Materials & Methods: A phenomenographic approach was used. The study was preformed at an exceptional school in Tehran. Twelve mothers were interviewed using guided interviews. Results: From 336 thematic sentences, Six categories emerged, the first having three subcategories and the second having twenty subcategories., the third having three, the fourth category having six, the fifth having two, and the sixth having two subcategories. Mother's experiences of having a child with MR, describes informants a variety of feelings, often ambivalent (acceptance and UN acceptance. In such a situation, attention to God and prayer are the most important coping strategies for positive adaptation in mothers' experiences of having a child with MR, but this perception can not effect to accept him alone. They emphasis on educational and psychological needs for better life. Conclusions: The findings of this study could be used in mothers education to promote understanding of mothers’ experiences and how best to help them. They could also be used in the general media to improve public understanding.

Limitations of retarded (bisulfite) x-ray film processing

International Nuclear Information System (INIS)

Stoering, J.P.; Dittmore, C.

1979-01-01

We demonstrate the limitations of using retarded (bisulfite) developer to abate film sensitivity of x-ray films that have been exposed to intense radiation. We compared the measured densities of a large number of Kodak Type-M x-ray film samples exposed to a known fluence of monochromatic x-rays. These film samples were processed in three separate batches of bisulfite developer mixed in the same proportions. We concluded that reproducible film-density information cannot be obtained using different batches of (bisulfite) developer solutions

Structural analysis of a speech disorder of children with a mild mental retardation

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Franc Smole

2004-05-01

Full Text Available The aim of this research was to define the structure of speech disorder of children with a mild mental retardation. 100 subjects were chosen among pupils from the 1st to the 4th grade of elementary school who were under logopaedic treatment. To determine speech comprehension Reynell's developmental scales were used and for evaluation of speech articulation the Three-position test for articulation evaluation. With the Bender test we determined a child's mental age as well as defined the signs of psychological disfunction of organic nature. For the field of phonological consciousness a Test of reading and writing disturbances was applied. Speech fluency was evaluated by the Riley test. Evaluation scales were adapted for determining speech-language levels and motor skills of speech organs and hands. Data on results in psychological test and on the family was summed up from the diagnostic treatment guidance documents. Social behaviour in school was evaluated by their teachers. Six factors which hierarchicallydefine the structure of speech disorder were determined by the factor analysis. We found out that signs of a child's brain lesion are the factor which has the most influence on a child's mental age. The results of this research might be helpful to logopaedists in determining a logopaedic treatment for children with a mild mental retardation.

Prenatal diagnosis of the fragile X syndrome : loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus

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Losekoot, M; Hoogendoorn, E; Olmer, R; Jansen, CCAM; Oosterwijk, JC; vandenOuweland, AMW; Halley, DJJ; Warren, ST; Willemsen, R; Oostra, BA; Bakker, E

1997-01-01

The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to

Effects of Classification Exposure upon Numerical Achievement of Educable Mentally Retarded Children.

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Funk, Kerri L.; Tseng, M. S.

Two groups of 32 educable mentally retarded children (ages 7 to 14 years) were compared as to their arithmetic and classification performances attributable to the presence or absence of a 4 1/2 week exposure to classification tasks. The randomized block pretest-posttest design was used. The experimental group and the control group were matched on…

Involuntary Euthanasia and Current Attempts to Define Persons with Mental Retardation as Less Than Human.

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Lusthaus, Evelyn W.

1985-01-01

The author examines current attempts to define mentally retarded persons as less than human and suggests that these ideologies are being used to justify euthanasia practices and to formulate euthanasia policies. (CL)

Do Adults with Mental Retardation Show Pictorial Superiority Effects in Recall and Recognition?

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Cherry, Katie E.; Applegate, Heather; Reese, Celinda M.

2002-01-01

A study examined memory for pictures and words in 16 adults with mental retardation and 24 controls. Pictorial superiority effects occurred in free recall and recognition for both intelligence-level groups. Correlational analyses indicated working memory span was primarily related to recall performance, irrespective of stimulus format. (Contains…

For Whom the Bell Curves: Old Texts, Mental Retardation, and the Persistent Argument.

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Smith, J. David

1995-01-01

A review of secondary education and college biology textbooks published from 1900 through 1950 finds strong support for eugenics and Social Darwinism. These attitudes are related to effects of such recent books as "The Bell Curve" (by R. Herrnstein and C. Murray) for people with mental retardation. (DB)

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

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Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef

2004-01-01

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

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Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Romein, T.; Sistermans, E.A.; Nillessen, W.; Bokhoven, J.H.L.M. van; Vries, L.B.A. de; Hamel, B.C.J.

2002-01-01

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental

Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.

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Hall, Deborah A; O'Keefe, Joan A

2013-11-01

This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.

Effects of an Aerobic Exercise Program on Community-Based Adults with Mental Retardation.

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Pommering, Thomas L.; And Others

1994-01-01

Evaluation of a 10-week aerobic exercise program on 14 community-based adults with mental retardation found a 91.3% attendance rate and significant increases in maximal oxygen consumption, oxygen pulse, maximum ventilation, exercise stress test duration, and flexibility. However, no significant changes were observed in weight or body composition.…

The impact of caring for children with mental retardation on families as perceived by mothers in Karachi, Pakistan

International Nuclear Information System (INIS)

Lakhani, A.; Gavino, I.; Yousafzai, A

2013-01-01

Objective: To assess how families perceive the positive and negative impacts of caring for a child with mental retardation. Methods: The quantitative descriptive study was conducted from January to August 2007 and comprised 54 families attending a private day-care centre for children with special needs in Karachi, Pakistan. The Kansas Inventory of Parental Perceptions was used to assess mothers' perceptions on the impact of caring for a child with mental retardation. Positive contributions, social comparisons with others, understanding of disability and perception of control were assessed. SPSS 16 was used for statistical analysis. Results: Mothers reported positive contribution to family life as a result of caring for a child with mental retardation (Mean: 2.95+-0.37). There was an acceptance of the situation and a trend towards upward favourable comparison with other families (Mean: 3.13+-0.07). Conclusions: Contrary to earlier studies exploring the impact of caring for a child with disabilities having largely focused on negative contributions, the study highlights some positive contributions. (author)

Mental retardation after prenatal exposure. Re-analysis indicated

International Nuclear Information System (INIS)

Paile, W.

2000-01-01

The current risk assessment for severe mental retardation after prenatal exposure to the A-bomb radiation is based on 21 cases exposed to more than 0.005 Gy, of which 17 were exposed in the most sensitive period 8-15 weeks p.c. The latest analysis, applying the best fitting model, indicates a threshold with a lower 95% bound of 0.06-0.31 Gy, depending on whether 2 cases with Down's syndrome are included or not. The authors have interpreted this as suggesting a threshold in the low-dose region. In the dose group 0.10-0.49 Gy, except one case with Down's syndrome there is only one other case, exposed 8 weeks p.c. to 0.14 Gy. However, in a RERF report (TR 13-91) concerning brain abnormalities detected by MRI in retarded persons, the same case is described. According to this report he was actually exposed to 0.86 Gy. The distance was 1060 m, and his mother exhibited severe epilation. These details indicate that the higher dose is correct and the lower dose is erroneous. In a small material the misclassification of one case has a deep influence on the result of the data analysis. Reclassification of this case will lead to a considerable change in the estimated threshold, notably in the 95% lower bound of the threshold. There will be no indication of severe retardation after less than 0.5 Gy even in the most sensitive period. This does not preclude a milder effect on intelligence from lower doses. The fraction of severe retardation after exposure to 1 Sv in the period 8-15 weeks p.c. has been estimated at 40%. The effect on intelligence score has been estimated at 30 IQ units per Sv in the same period. These estimates have been combined in ICRP 60 to create a model, based on a presumed normal distribution of IQ scores, according to which the final outcome for an individual is determined by his expected IQ without exposure. Thus the dose required to make an otherwise normal individual retarded would be high, while a much lower dose would be enough to bring an individual

Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

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... blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type BMRS, MKB type Ohdo syndrome, MKB type X-linked ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

Research Paper: Effect of Eight Weeks Corrective Games on Kyphosis Curve and Strengths of Trunk Muscle in Kyphotic Mentally Retarded Children

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Leila Ahmadnezhad

2016-07-01

Conclusion Corrective games can improve kyphosis curve and strength of trunk muscles in mentally retarded children. Based on the results of this research on the corrective effect of play therapy on kyphosis curve and strength of trunk muscle in kyphotic mentally retarded children who need to have an independent living and get rid of physical abnormalities, it is recommended to do play therapy protocols to improve physical abnormalities.

Education of Mentally Retarded Adults

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Dora Jelenc

2000-12-01

Full Text Available Adult education of people with severe, modest and profound mental retardation got only recently an important place in the special education theory and practice. It could be established that in this area both in the intentional as well as in the contentual field the meaningfull shift has been achieved. Today we are talking about authonomy and rights of these people to taking part in a decission-making about the way of their living, but on the other  side the fast development and changes in society are again and again compelling this people to the decisions which they are not able to put into effect and which are burdening them and making them dependent of others. This could partly be prevented by continuing education as it is also true for them that in the stage of initial education they cannot subdue everything what they would need later in their life. Next to the findings of the foreign experts this has been confirmed as well in the first our investigations in this area. Some of the findings will be presented in our paper.

Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

OpenAIRE

Belousova, Elena; Sukhorukov, Vladimir; Dorofeeva, Marina; Shagam, Lev; Vlodavetz, Dmitrii V.

2017-01-01

Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS. Case study. The female child was born at term by normal de...

THE EFFECT OF PLAYING SNAKE AND LADDER TOWARD THE RESULT STUDY OF ARITHMETIC ADDITION FOR STUDENT WITH MENTALLY RETARDED STUDENT

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Arianti Iman Sari

2016-12-01

Full Text Available The purpose of this research were to describe: (1 the study result of arithmetic addition operation for fourth grade student with mentally retarded in SDLB before playing the Snake and Ladder activity (2 the study result of arithmetic addition operation for fourth grade student with mentally retarded in SDLB after playing the Snake and Ladder activity (3 the effect of Snake and Ladder playing toward the result study of arithmetic addition for fourth grade student with mentally retarded SDLB. This research used SSR (Single Subject Research with A-B-A design. Collecting the data was done by using assessment instrument, tests and observations. The result of this research showed that playing Snake and Ladder affected the study result of arithmetic addition operation for fourth-grade children with mentally retarded student in SDLB. Tujuan penelitian ini adalah mendeskripsikan (1 Hasil belajar penjumlahan siswa kelas 4 SDLB sebelum melakukan kegiatan bermain Ular Tangga (2 Hasil belajar penjumlahan siswa kelas 4 SDLB sesudah melakukan kegiatan bermain Ular Tangga (3 Pengaruh bermain Ular Tangga terhadap hasil belajar penjumlahan siswa kelas 4 SDLB. Penelitian ini menggunakan rancangan penelitian SSR (Single Subject Research dengan desain A-B-A. Pengumpulan data menggunakan instrumen assesmen, tes dan observasi. Hasil penelitian menunjukkan bermain ular tangga berpengaruh terhadap hasil belajar penjumlahan siswa tunagrahita kelas 4 SDLB.

Comparison of Reversal Test Pictures among Three Groups of Students: Normal, Education Mental Retarded and Students with Learning Disabilities in Tehran

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Mohammad Reza Koushesh

2007-01-01

Full Text Available Objective: Riversal visual perception discrimination test is one of the dyslexia diagnostic tests in children which can be performed in the group (group-based and it is reliable to detect these disorders in students of the primary schools especially those who spend their first educational weeks or months. The aim of this survey is comparison of Riversal test pictures among three groups of students: normal, educable mental retarded students and students with learning disabilities, aged 8-12 years old that were under coverage of Tehran Welfare Department. Materials & Methods: This Comparative cross – sectional study has performed on 150 girls and boys of mentioned groups that were selected by simple randomize selection. Results: The findings suggested that there was significant difference between surveyed groups (P=0.001. The highest scores were related to normal students and the lowest scores to educable mental retarded. The interval of negative scores of educable mental retarded from normal students was more than that of between educable mental retarded and learning disabilities. Conclusion: This survey indicates that students with learning disabilities (dyslexia have problems in their visual perception and this test can help to diagnose and determine abnormal children as soon as possible in order to better treatment.

The Human Genome Project and Eugenics: Identifying the Impact on Individuals with Mental Retardation.

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Kuna, Jason

2001-01-01

This article explores the impact of the mapping work of the Human Genome Project on individuals with mental retardation and the negative effects of genetic testing. The potential to identify disabilities and the concept of eugenics are discussed, along with ethical issues surrounding potential genetic therapies. (Contains references.) (CR)

Brothers and Sisters of Adults with Mental Retardation: Gendered Nature of the Sibling Relationship.

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Orsmond, Gael I.; Seltzer, Marsha Mailick

2000-01-01

Differences and similarities between 245 brothers and sisters of adults with mental retardation in the sibling relationship were examined. Sisters scored higher in the caregiving, companionship, and positive affect aspects of the sibling relationship. Sibling involvement increased over time, but was dependent upon changes in maternal health.…

Compartive Assessment of Functional Cerebral Lateralization of Mentally Retarded Children having Mental Age of 5 to 6 Old with Normal Ones

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Seyyed Behnamedin Jame'ei

2003-01-01

Full Text Available Objective: Study of the children psychomotor development, is and interdisciplinary interest among medical and rehabilitation specialist. The psychomotor development is mostly dependent on normal ontogenetically evolution of the brain, thus it is reasonable that any defects in this complicated process would be able to cause irreversible cognitive, sensory and motor dysfunction. In addition to mental deficiency in Mental Retarded (MR children, some other notable defects in motor abilities including gross and fine movement and equilibrium also exist in these children. Hemispheric dominancy or lateralization is an important stage in normal brain development which thought to be affected in MR children, and thus affects the outcome of rehabilitation treatment for these children. The present research work is designed to study functional cerebral lateralization between mentally retarded children having mental age of 5 to 6 years old and normal ones of the same age. Materials & Methods: By using the Neurological Developmental Questionnaire of Delacatom the functional lateralization parameters including footedness, handedness, and eye and ear preference were considered in this study. Results: Statistical analysis of the results showed significant differences in above mentioned parameters among MR and normal children of the same age. Conclusion: On the bases of these results, we believe that different pattern of lateralization in MR children could affect the rehabilitation management and should be noted in therapeutic plan.

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

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Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

2003-11-01

Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

Oral Health and Nutritional Status of Semi-Institutionalized Persons with Mental Retardation in Brazil

Science.gov (United States)

Batista, Luciana Rodrigues Vieira; Moreira, Emilia Addison Machado; Rauen, Michelle Soares; Corso, Arlete Catarina Tittoni; Fiates, Giovanna Medeiros Rataichesck

2009-01-01

Association between oral health status and nutritional status was investigated in 200 semi-institutionalized persons with mental retardation aged 5-53 years, 45.5% female, in the cities of Florianopolis and Sao Jose, province of Santa Catarina, Brazil. In this cross-sectional study, clinical-odontological examination revealed a high percentage of…

An Interactive Attention Board: Improving the Attention of Individuals with Autism and Mental Retardation

Science.gov (United States)

Sahin, Yasar Guneri; Cimen, Fatih Mehmet

2011-01-01

This paper presents a tool named "Interactive Attention Board" (IAB) and an associated software named "Interactive Attention Boards Software" (IABS) for individuals with Mental Retardation and Autism. The proposed system is based on several theories such as perception and learning theories, and it is intended to improve hand-eye coordination and…

Predictive value of age of walking for later motor performance in children with mental retardation.

Science.gov (United States)

Kokubun, M; Haishi, K; Okuzumi, H; Hosobuchi, T; Koike, T

1996-12-01

The purpose of the present study was to clarify the predictive value of age of walking for later motor performance in children with mental retardation. While paying due attention to other factors, our investigation focused on the relationship between a subject's age of walking, and his or her subsequent beam-walking performance. The subjects were 85 children with mental retardation with an average age of 13 years and 3 months. Beam-walking performance was measured by a procedure developed by the authors. Five low beams (5 cm) which varied in width (12.5, 10, 7.5, 5 and 2.5 cm) were employed. The performance of subjects was scored from zero to five points according to the width of the beam that they were able to walk without falling off. From the results of multiple regression analysis, three independent variables were found to be significantly related to beam-walking performance. The age of walking was the most basic variable: partial correlation coefficient (PCC) = -45; standardized partial regression coefficient (SPRC) = -0.41. The next variable in importance was walking duration (PCC = 0.38; SPRC = 0.31). The autism variable also contributed significantly (PCC = 0.28; SPRC = 0.22). Therefore, within the age range used in the present study, the age of walking in children with mental retardation was thought to have sufficient predictive value, even when the variables which might have possibly affected their subsequent performance were taken into consideration; the earlier the age of walking, the better the beam-walking performance.

Risperidone-associated urinary incontinence in patients with autistic disorder with mental retardation.

Science.gov (United States)

Kumazaki, Hirokazu; Watanabe, Koichiro; Imasaka, Yasushi; Iwata, Kazuhiko; Tomoda, Akemi; Mimura, Masaru

2014-10-01

We report several cases in which patients with autistic disorder with mental retardation who received risperidone experienced urinary incontinence. We retrospectively investigated the medical records of patients housed in facilities for patients with autistic disorder with mental retardation. Those who had undergone a medical examination at a hospital in Tokyo from April 1999 to March 2009 were included in the study.Retrospective data were gathered including age, sex, IQ, birth weight, dosage of risperidone, urinary density, as well as existence of urinary and fecal incontinence. We divided the participants into those who did and did not experience urinary incontinence after taking risperidone and compared the 2 groups. Risperidone had been prescribed to 35 patients. In spite of the fact that no patient had a history of urinary incontinence, 14 patients experienced urinary incontinence after receiving risperidone. Moreover, 4 of these 14 patients also had fecal incontinence. Among the variables we examined, the only significant difference between groups was in sex, with significantly more women experiencing incontinence compared with men. When the dose of risperidone was reduced or the patients switched to other drugs, urinary incontinence of the patients improved.Hence, risperidone may have a casual relationship with urinary incontinence. Further research is needed to understand the pathophysiology of possible effect.

Age and Pattern of Intellectual Decline among Down Syndrome and Other Mentally Retarded Adults.

Science.gov (United States)

Gibson, David; And Others

1988-01-01

A study of 18 Down Syndrome and 18 other mentally retarded adults found evidence of a significant erosion of Wechsler Intelligence Scale for Children scores from the third to fourth decades of life. The Block Design subtest was especially vulnerable to performance decline with age in the Down Syndrome adults. (Author/JDD)

Teaching Dance to Educable Mentally Retarded Adolescents: A Curriculum Guide for Educators and Recreators.

Science.gov (United States)

Crain, Cynthia D.

The manual describes activities designed to teach dance to adolescents with mild mental retardation. It is explained that the manual can be used in a sequential 25-week course in a mini-approach, or as a special event or performance guide. Expected outcomes are considered, including increased self-confidence, improved peer cooperation, and…

Prevalence and Clinical Correlates of Hypothyroidism in a School for Children with Mental Retardation

Science.gov (United States)

Jaswal, Shivani; Kaur, Jasbinder; Chavan, B. S.; Gupta, Seema; Kaur, Harjeet

2011-01-01

Objective: Pediatrician is the first contact in the Pathway to Care in children with Mental retardation (MR). Following the recent advancements in the area of molecular genetics, understanding of specific conditions of MR or Developmental Delay (DD) is expanding. Hypothyroidism is a treatable metabolic/endocrinological cause of MR. The aim of this…

The Effects of Basketball Training on the Maladaptive Behaviors of Trainable Mentally Retarded Children.

Science.gov (United States)

Gencoz, Faruk

1997-01-01

The effects of basketball training on the maladaptive behaviors of 19 children (ages 10-14) with mental retardation were investigated. Results indicated the children showed a reduction in their level of maladaptive behavior at home and in school. This reduction was maintained 45 days later in a follow-up assessment. (Author/CR)

VOCABULARY PROBLEMS OF THE LIGHTLY MENTALLY RETARDED SCHOOL AGED CHILDREN

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Vesna KOSTIC

2000-06-01

Full Text Available The main research objectives are the problems in the vocabulary of school aged, lightly mentally retarded children. Results of the research indicate which are the most important factors that have impact of the vocabulary and language competence of these persons. The research variables are: sex, IQ, chronological age and school age. Comics-like stories were used as an examination instrument in this research. Their interpretation is helpful in determining the vocabulary level of every single examine. At the end of the research some suggestions are presented, whose goal is to enrich children's vocabulary.

COLOUR LEARNING IN RETARDED CHILDREN*

African Journals Online (AJOL)

COLOUR LEARNING IN RETARDED CHILDREN* !\\'fRS E. K~SEBOOM, Principal, ADS. LEVIN, M.B., M.R.C.P., D.C.H., Hon. Medical Officer, Hamlet B School for. Retarded Children, Johannesburg. '... silly children, with no understanding .. -'. Jeremiah 4:22. Tt has been observed' that mentally retarded children have.

The Role of Social Awareness in the Employment Success of Adolescents with Mild Mental Retardation.

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Black, Rhonda S.; Rojewski, Jay W.

1998-01-01

A study investigated the role of three social-awareness components (sensitivity, insight, and communication) in the employment success of 125 adolescents with mild mental retardation. Results found that all three social-awareness measures were higher for adolescents who rated higher in work performance, particularly awareness of social…

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

DEFF Research Database (Denmark)

Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria

2010-01-01

12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating...

Siblings: Brothers and Sisters of People Who Have Mental Retardation. Arc Q & A Series.

Science.gov (United States)

Arc, Arlington, TX.

Basic information about siblings of people with mental retardation is presented in a question-and-answer format. The following questions are addressed: "Is having a sibling with a disability different than having a sibling who does not have a disability?"; "What are some of the concerns of siblings of people with disabilities?"; "Are there any…

Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.

Science.gov (United States)

Jung, Chae Lim; Ki, Chang-Seok; Kim, Byoung Joon; Lee, Jong-Hyuck; Sung, Ki-Sun; Kim, Jong-Won; Park, Youn-Soo

2013-12-01

Hereditary sensory and autonomic neuropathy type IV is an autosomal recessive disorder characterized by severe mental retardation and self-mutilation-related complications. Recently, we investigated a 16-year-old Korean boy with normal intelligence. He had preserved pain sensation but was suspected of having hereditary sensory and autonomic neuropathy type IV because of the recurrent bone fractures and painless joint destruction in the absence of any predisposing medical conditions. Genetic analysis of the NTRK1 gene revealed compound heterozygous mutations including c.851-33T>A and c.2303C>T (p.Pro768Leu) in the NTRK1 gene. The p.Pro768Leu mutation has been identified in 2 Japanese patients with a mild phenotype. Therefore, although it is rare, hereditary sensory and autonomic neuropathy type IV should be considered in patients with recurrent bone fractures and painless joint destruction who do not have any predisposing conditions even when they do not have typical clinical features such as mental retardation or pain insensitivity.

The relationship between job search skills and employability for persons with mild mental retardation.

Science.gov (United States)

Suzuki, Y

1998-01-01

Persons with mental retardation who possess applicable adaptive skills are usually able to obtain jobs in labor markets. However, some persons who show high scores with social and prevocational skills are unable to obtain jobs and the reasons for their unemployability are unknown. Twelve subjects with mild retardation who failed to obtain jobs were evaluated for their social and prevocational skills at the Tokyo Metropolitan Rehabilitation Center for the Physically and Mentally Handicapped. The evaluation was performed using the Social and Prevocational Information Battery-Revised which was developed by Halpen and Irvin. The results showed 12 subjects presented lower scores either in the Job Search Skills area or in other areas in spite of their high scores on the Total Battery. Moreover, these subjects also showed behavior problems. The study suggests that those with high scores on the Total Battery, but low scores in Job Search Skills, show a tendency to fail to obtain a job in competitive job placement. It seems that these persons have adjustment problems and need special support services to secure their employability.

Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans-Synaptic Signaling Mediating Synaptic Remodeling

Science.gov (United States)

Sears, James C.; Broadie, Kendal

2018-01-01

Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. The disease arises through loss of fragile X mental retardation protein (FMRP), which normally exhibits peak expression levels in early-use critical periods, and is required for activity-dependent synaptic remodeling during this transient developmental window. FMRP canonically binds mRNA to repress protein translation, with targets that regulate cytoskeleton dynamics, membrane trafficking, and trans-synaptic signaling. We focus here on recent advances emerging in these three areas from the Drosophila disease model. In the well-characterized central brain mushroom body (MB) olfactory learning/memory circuit, FMRP is required for activity-dependent synaptic remodeling of projection neurons innervating the MB calyx, with function tightly restricted to an early-use critical period. FMRP loss is phenocopied by conditional removal of FMRP only during this critical period, and rescued by FMRP conditional expression only during this critical period. Consistent with FXS hyperexcitation, FMRP loss defects are phenocopied by heightened sensory experience and targeted optogenetic hyperexcitation during this critical period. FMRP binds mRNA encoding Drosophila ESCRTIII core component Shrub (human CHMP4 homolog) to restrict Shrub translation in an activity-dependent mechanism only during this same critical period. Shrub mediates endosomal membrane trafficking, and perturbing Shrub expression is known to interfere with neuronal process pruning. Consistently, FMRP loss and Shrub overexpression targeted to projection neurons similarly causes endosomal membrane trafficking defects within synaptic boutons, and genetic reduction of Shrub strikingly rescues Drosophila FXS model defects. In parallel work on the well-characterized giant fiber (GF) circuit, FMRP limits iontophoretic dye loading into central interneurons, demonstrating an FMRP role controlling core neuronal properties through the

Pervasive developmental disorder, behavior problems, and psychotropic drug use in children and adolescents with mental retardation

NARCIS (Netherlands)

de Bildt, Annelies; Mulder, Erik J.; Scheers, Tom; Minderaa, Ruud B.; Tobi, Hilde

2006-01-01

OBJECTIVE. This study investigated the interrelationship between psychopharmaco-therapy in general and the use of specific psychotropic drugs and pervasive developmental disorder and other behavior problems in children and adolescents with mental retardation. METHODS. A total of 862 participants 4

Pervasive developmental disorder, behavior problems, and psychotropic drug use in children and adolescents with mental retardation.

NARCIS (Netherlands)

Bildt, de A.; Mulder, E.J.; Scheers, T.; Minderaa, R.B.; Tobi, H.

2006-01-01

OBJECTIVE. This study investigated the interrelationship between psychopharmacotherapy in general and the use of specific psychotropic drugs and pervasive developmental disorder and other behavior problems in children and adolescents with mental retardation. METHODS. A total of 862 participants 4 to

Brain abnormalities among the mentally retarded prenatally exposed atomic bomb survivors

International Nuclear Information System (INIS)

Schull, W.J.; Otake, Masanori; Nishitani, Hiromu; Hasuo, Kanehiro; Kobayashi, Takuro; Goto, Ikuo.

1992-07-01

An increased occurrence of severe mental retardation, with or without accompanying small head size, at specific gestational ages has been the most conspicuous effect on brain development of prenatal exposure to the bombings of Hiroshima and Nagasaki. A variety of biological mechanisms could be responsible for this finding, including cell killing and mismanaged neuronal migration. We describe here the findings on magnetic resonance imaging of the brains of five of these mentally retarded individuals, all of whom were exposed in the 8th through the 15th weeks following fertilization, the gestational period shown to be the most vulnerable to radiation-related damage. In the two cases exposed at the 8th or 9th week following fertilization, large areas of ectopic gray matter are seen, strong evidence of a failure of the neurons to migrate to their proper functional sites. The two individuals exposed in the 12th or 13th week show no readily recognized ectopic gray areas but do show mild macrogyria, which implies some impairment in the development of the cortical zone. Moreover, both have mega cisterna magna. Finally, the one individual seen who was exposed still later in development, in the 15th week, shows none of the changes seen in the other four individuals. This person's brain, though small, appears to have normal architecture. These findings are discussed in terms of the embryological events transpiring at the time of the prenatal exposure of these individuals to ionizing radiation. (author)

Gasoline Abuse in a 10-Year-Old Child with Mental Retardation: A Case Report

Directory of Open Access Journals (Sweden)

Mohit Joshi

2015-01-01

Full Text Available Inahalant abuse is of increasing interest in India. The age of onset is typically during adolescence. Gasoline inhalant use is rarely reported in adolescents with intellectual deficit. We report a case of petrol dependence in a 10-year-old child with mental retardation. Possible effect of petrol huffing on behavior and cognition is discussed.

The Relation of Job Satisfaction to Vocational Preferences among Teachers of the Educable Mentally Retarded

Science.gov (United States)

Wiggins, J. D.

1976-01-01

The job satisfaction of 110 teachers of the educable mentally retarded was significantly and usually substantially correlated with the Social, Artistic, and Realistic scales of the Vocational Preference Inventory. The implications of the results for the selection and placement of teachers and for Holland's theory are discussed. (Author)

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

Science.gov (United States)

Ozçelik, Derya; Sağlam, Ibrahim; SIlan, Fatma; Sezen, Gülbin; Unveren, Toygar

2008-05-01

We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns "anophthalmia-plus" syndrome or a new syndrome.

The MMPI-168(L) and ADD in Assessing Psychopathology in Individuals with Mental Retardation: Between and within Instrument Associations.

Science.gov (United States)

McDaniel, William F.; Passmore, Corie E.; Sewell, Hollie M.

2003-01-01

A study involving 58 adults with mental retardation and mental disorders found few correlations between the Minnesota Multiphasic Personality Inventory (MMPI) and the Assessment of Dual Diagnosis (ADD). The major exception was the Mania scale of the MMPI, which correlated moderately well with the ADD Schizophrenia and Dementia scales. (Contains…

Parental Interactions with Children with and without Mental Retardation: Behavior Management, Coerciveness, and Positive Exchange.

Science.gov (United States)

Floyd, Frank J.; Phillippe, Kent A.

1993-01-01

Comparison of in-home interactions of mothers and fathers with their school-age children found that parents in 53 families having children with mental retardation were more controlling and less playful with their child than were parents of nonretarded children but they did effectively employ behavior management practices without resorting to…

Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D)

OpenAIRE

Gurney, Mark E.; Cogram, Patricia; Deacon, Robert M; Rex, Christopher; Tranfaglia, Michael

2017-01-01

Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene. Dysregulation of cAMP metabolism is a consistent finding in patients and in the mouse and fly FXS models. We therefore explored if BPN14770, a prototypic phosphodiesterase-4D negative allosteric modulator (PDE4D-NAM) in early human clinical trials, might provide therapeutic benefit in the mouse FXS model. Daily treatment o...

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

Science.gov (United States)

Gal, A; Wieringa, B; Smeets, D F; Bleeker-Wagemakers, L; Ropers, H H

1986-01-01

Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.

Clomipramine ameliorates adventitious movements and compulsions in prepubertal boys with autistic disorder and severe mental retardation.

Science.gov (United States)

Brasic, J R; Barnett, J Y; Kaplan, D; Sheitman, B B; Aisemberg, P; Lafargue, R T; Kowalik, S; Clark, A; Tsaltas, M O; Young, J G

1994-07-01

In an open, nonblind clinical trial, clomipramine reduced adventitious movements and compulsions in five previously medicated prepubertal boys with autistic disorder and severe mental retardation. Poorly adapted rating scales, interrater variability, subject heterogeneity, different treatment histories, and environmental stresses confounded the assessment of treatment effects.

Effectiveness of Training Self-encauragement on the Resiliency and Optimism the Mothers of Children with Mental Retardation

Directory of Open Access Journals (Sweden)

A Afkhami Aqda

2016-07-01

Full Text Available Introduction: a retarded child is considered as a perishing pressure on the parents, hence, teaching these mothers is very important. One of the useful tasks to do for this, is teaching self-encouragement. The aim of the present study was to investigate the effectiveness of self-encouragement on resilience and optimism of mothers with mental retardation. Methods: The method was semi-experimental, pretest-posttest with a control group. The sample group included 24 mothers from Yazd city in 1393-94 with mentally retarded children volunteering (non-randomly for the study and finally divided into control and experimental groups (fifteen people each. The resilience and optimism of the participants were assessed using CD-RISK Connor-Davidson’s resilience questionnaire and life orientation test LOT, respectively LOT and the experiment group was instructed the self-encouragement program for 1 sessions. Results: Covariance analysis MANCOVA, ANCOVA in SPSS (ver. 22 of the data showed that the educational sessions had significant effect on resilience and optimism of the experimental group (p<0/05. Conclusion: Accordingly, it can be concluded that teaching self-encouragement can lead to more resilience and optimism.

A Comparison of Adaptive Behaviors among Mentally Retarded and Normal Individuals: A guide to Prevention and Treatment

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Leyla Sadros

2010-01-01

Full Text Available Objectives: Because of the importance of adaptive behaviors in socialand domestic lives, this study aimed at a comparison of various domainsof adaptive behaviors, between mentally retarded and normalindividuals.Methods: A number of 246 normal and 74 mentally retarded individuals(7-18 years of age, mean: 12±3.5 years, participated this study inTehran, Iran. Their adaptive behaviors scores, were obtained using"Adaptive Behavioral Scale, Residential & Community" (ABS-RC: 2,consisting of 18 domains of behavior. The scale was first translatedinto Persian by the professionals and then retranslated into English byanother translator, to ensure content non-distortion.Results: The following domains were significantly lower in mentallyretarded than in normal individuals: independent functioning, economicactivity, language development, number & time, prevocational/vocational activity, self direction, responsibility, socialization,disturbing interpersonal behavior, domestic activity, social engagement,conformity and trustworthiness. No significant difference was documentedin the physical development, stereotype & hyperactive behaviors,sexual behavior as well as self abuse behavior domains, betweenthe two groups.Conclusions: As mentally deficient subjects did worse than normalones in terms of many adaptive behavioral domains, it implies that theadaptive behavioral issues in such people might need a great deal ofattention and intervention. For these retarded people to function betterin their social and residential environment, it would be necessary todevelop their adaptive behaviors. This study may shed light on theimportance of attention to the adaptive behavioral domains of mentallyretarded people and also indicates the necessity of preventive measures,even for normal individuals.

Determining the Motor Skills Development of Mentally Retarded Children through the Contribution of Visual Arts

Science.gov (United States)

Erim, Gonca; Caferoglu, Müge

2017-01-01

Visual arts education is a process that helps the reflection of inner worlds, socialization via group works and healthier motor skills development of normally developing or handicapped children like the mentally retarded. This study aims to determine the influence of visual art studies on the motor skills development of primary school first grade…

Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study.

Science.gov (United States)

Visser, Willem Edward; de Rijke, Yolanda B; van Toor, Hans; Visser, Theo J

2011-09-01

Abnormalities in thyroid state may affect development and function of the brain and result in mental retardation (MR). Thyroid parameters have not been systematically investigated in institutionalized MR subjects. The objective is to measure thyroid parameters in a novel cohort of 946 institutionalized subjects. The TOP-R (Thyroid Origin of Psychomotor Retardation) study is a cross-sectional nation-wide multicentre study. Subjects with unexplained MR. The majority of the MR subjects had thyroid parameters within the reference range used in our laboratory. Antiepileptic drugs (AEDs) use affected thyroid hormones (T4: 102·1 ± 1·2 vs 83·9 ± 1·2 nmol/l, P hyperthyroidism was 5·2% and 2·8%, respectively. We report thyroid parameters in a cohort of institutionalized subjects with MR. Our findings substantiate the fact that AEDs affect thyroid hormone levels. Future studies will be employed to investigate genetic causes of MR related to abnormalities in thyroid hormone homeostasis. © 2011 Blackwell Publishing Ltd.

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Science.gov (United States)

Coppola, Antonietta; Striano, Pasquale; Gimelli, Stefania; Ciampa, Clotilde; Santulli, Lia; Caranci, Ferdinando; Zuffardi, Orsetta; Gimelli, Giorgio; Striano, Salvatore; Zara, Federico

2010-03-01

We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

Mothers of Children with Severe Mental Retardation: Maternal Pessimism, Locus of Control and Perceived Social Support.

Science.gov (United States)

Rimmerman, Arie

1991-01-01

This study, involving 24 Israeli mothers of children (average age 3.3) with severe mental retardation, found that the mothers' locus of control and perception of social support (belonging, appraisal, tangible support, and self-esteem) serve as buffers against parental pessimism concerning their severely handicapped children. (JDD)

The Effect of Eight Weeks of Tai-Chi Exercises on Status Parameters of Kyphosis and Balance among Educable Mentally Retarded Children

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Tayebeh Heidari

2016-07-01

Full Text Available One of the most fragile stratums of every society is the people with certain disabilities, especially educable mentally retarded children. Some of the most tangible difficulties of these people are seen in their perceptual and motional abilities (coordination, balance, atmospheric awareness, time awareness, physical awareness and sense of direction. Overcoming these inabilities requires the integration of environmental information and decision making for performance of a special function. The objective of the present research is to investigate the effects of eight weeks of Tai-Chi exercises on status parameters of Kyphosis and balance among educable mentally retarded children. The research sample is consisted of 30 educable mentally retarded children suffering from Kyphosis abnormality. The sample individuals were selected from welfare centers of Tehran. After selection of samples, prior and post to execution of the protocol, the individuals were measured in terms of Kyphosis angle, chest expansion, coefficient of Delmas, spine extension and static and dynamic balances respectively through flexible rulers, tape measure, stoke test and Y test. The educable mentally retarded children were assigned to two 15 individual groups of experimental (age average of 11.6 years; average height of 142.30; average weight of 39.26kg and control (age average of 11.06; height average of 139.83 and weight average of 35.86kg. The subjects of the experimental group were participated in an 8 week course of Tai-Chi exercises in three weekly 45 minute sessions. These exercises included a 10 minute warm-up, 30 minutes of Tai-Chi movements and 5 minutes of cool-down. During this time, the subjects of the control group were not incorporated into any exercise. By the use of the Shapiro-Wilk test, the normality of data distribution was investigated and approved. Also the Leon test was used for investigation of equality of the variances. Afterwards, descriptive statistics

CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism

DEFF Research Database (Denmark)

Coutinho, Ester; Jacobson, Leslie; Pedersen, Marianne Giørtz

2017-01-01

) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR...... a significantly higher frequency of CASPR2 antibodies in mothers of MD/DPD children (p=0.01). These autoantibodies were not increased in mothers of children with autistic spectrum disorder. CONCLUSIONS: These findings complement the known roles of CASPR2 in brain development, and warrant further epidemiological...

Intelligent quotient estimation of mental retarded people from different psychometric instruments using artificial neural networks.

Science.gov (United States)

Di Nuovo, Alessandro G; Di Nuovo, Santo; Buono, Serafino

2012-02-01

The estimation of a person's intelligence quotient (IQ) by means of psychometric tests is indispensable in the application of psychological assessment to several fields. When complex tests as the Wechsler scales, which are the most commonly used and universally recognized parameter for the diagnosis of degrees of retardation, are not applicable, it is necessary to use other psycho-diagnostic tools more suited for the subject's specific condition. But to ensure a homogeneous diagnosis it is necessary to reach a common metric, thus, the aim of our work is to build models able to estimate accurately and reliably the Wechsler IQ, starting from different psycho-diagnostic tools. Four different psychometric tests (Leiter international performance scale; coloured progressive matrices test; the mental development scale; psycho educational profile), along with the Wechsler scale, were administered to a group of 40 mentally retarded subjects, with various pathologies, and control persons. The obtained database is used to evaluate Wechsler IQ estimation models starting from the scores obtained in the other tests. Five modelling methods, two statistical and three from machine learning, that belong to the family of artificial neural networks (ANNs) are employed to build the estimator. Several error metrics for estimated IQ and for retardation level classification are defined to compare the performance of the various models with univariate and multivariate analyses. Eight empirical studies show that, after ten-fold cross-validation, best average estimation error is of 3.37 IQ points and mental retardation level classification error of 7.5%. Furthermore our experiments prove the superior performance of ANN methods over statistical regression ones, because in all cases considered ANN models show the lowest estimation error (from 0.12 to 0.9 IQ points) and the lowest classification error (from 2.5% to 10%). Since the estimation performance is better than the confidence interval of

Visual acuity and stereoacuity among mentally retarded children.

Science.gov (United States)

Letourneau, J E; Beaulne, C; Duplessis, L

1992-12-01

To evaluate the reliability and the validity of Landolt Rings and of the Frisby Test as measures of visual acuity and stereoacuity, respectively, the visual acuity of 30 mentally retarded children was measured with Landolt Rings shown as games, the Sjögren Test, the Dot Visual Acuity Test and stereoacuity with the Frisby Test. Subjects were tested 3 times over a period of 3 weeks to measure the reliability of the tests. No significant difference was observed among these tests. The validity of the Landolt Rings was measured by a correlation of .55 for the highest logMAR values of the Sjögren Test with the highest logMAR values of the Landolt Rings. Visual acuity was systematically lower on the Dot Visual Acuity Test. The Frisby Test was not reliable among a group of 16 normal children who improved systematically over 3 weeks.

Chernobyl nuclear catastrophe and the high risk potential for mental retardation

International Nuclear Information System (INIS)

Holowinsky, I.Z.

1993-01-01

The nuclear explosion at Chernobyl nuclear reactor on April 26, 1986, continues to have wide political, social, and medical ramifications. Hot debris from the Chernobyl reactor covered an area of more than 5,000 square kilometers with nearly 20 million curies of radionuclides. Eleven regions with a population of nearly 17 million people, of whom 2.5 million were children below the age of 5 years, suffered some degree of radioactive contamination. These children are currently of elementary school age. One of the tragedies of the explosion is that thousands of these children are at high risk for mental retardation and learning disorders

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation

DEFF Research Database (Denmark)

Kanavin, Oivind J; Woldseth, Berit; Jellum, Egil

2007-01-01

BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism and a history...... cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD....

Supervisors' Performance Ratings Correlated with Selected Personal Characteristics of Attendants in a Mental Retardation Developmental Center.

Science.gov (United States)

Frederick, Joseph; And Others

A research study investigated the relationship between personal characteristics and selected demographic data of 75 attendants in a mental retardation developmental center and the assessment by 24 administrators of the attendants' job performance. Instruments used included a 20-item Direct Care Performance Scale and the Demographic Data Scale,…

Social Support for Families of Children with Mental Retardation: Comparison between Korea and the United States.

Science.gov (United States)

Shin, Jin Y.

2002-01-01

Thirty-eight American and 40 Korean mothers of children with mental retardation participated in home-visit interviews concerning types of informal and professional social support received. Results showed American mothers received more informal and professional support in almost all domains of social support. Korean mothers experienced more stress.…

Keene v. Brigham and Women's Hospital, Inc.: On the Value of a Life with Mental Retardation.

Science.gov (United States)

Vitello, Stanley J.

2003-01-01

Analysis of the Keene malpractice court case, which awarded compensatory damages to a child with severe disabilities probably contracted shortly after birth, focuses on how the court calculated life expectancy and the loss of life enjoyment, concluding discrimination against people with mental retardation, in that the decision assumes these…

Exploring links among imitation, mental development, and temperament.

Science.gov (United States)

Fenstermacher, Susan K; Saudino, Kimberly J

2016-01-01

Links among imitation, performance on a standardized test of intellectual development, and laboratory-assessed temperament were explored in 311 24-month old twin pairs. Moderate phenotypic associations were found between imitation, mental development, and temperament dimensions of Affect/Extraversion and Task Orientation. Covariance between imitation and mental development reflected genetic and shared environmental influences, whereas associations between imitation and temperament reflected genetic, shared, and nonshared environmental influences. Genetic factors linking imitation and temperament were the same as those linking temperament and mental development. Nonetheless, approximately 62% of total genetic variance on imitation was independent of genetic influences on mental development and temperament, suggesting that young children's imitation is not simply an index of general cognitive ability or dispositional style but has many underlying genetic influences that are unique.

Reflections on Mental Retardation and Eugenics, Old and New: Mensa and the Human Genome Project.

Science.gov (United States)

Smith, J. David

1994-01-01

This article addresses the moral and ethical issues of mental retardation and a continuing legacy of belief in eugenics. It discusses the involuntary sterilization of Carrie Buck in 1927, support for legalized killing of subnormal infants by 47% of respondents to a Mensa survey, and implications of the Human Genome Project for the field of mental…

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Directory of Open Access Journals (Sweden)

Saud Alsahli

2018-02-01

Full Text Available Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 . A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Science.gov (United States)

Alsahli, Saud; Alrifai, Muhammad Talal; Al Tala, Saeed; Mutairi, Fuad Al; Alfadhel, Majid

2018-01-01

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2 ). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

Neuron class-specific requirements for Fragile X Mental Retardation Protein in critical period development of calcium signaling in learning and memory circuitry.

Science.gov (United States)

Doll, Caleb A; Broadie, Kendal

2016-05-01

Neural circuit optimization occurs through sensory activity-dependent mechanisms that refine synaptic connectivity and information processing during early-use developmental critical periods. Fragile X Mental Retardation Protein (FMRP), the gene product lost in Fragile X syndrome (FXS), acts as an activity sensor during critical period development, both as an RNA-binding translation regulator and channel-binding excitability regulator. Here, we employ a Drosophila FXS disease model to assay calcium signaling dynamics with a targeted transgenic GCaMP reporter during critical period development of the mushroom body (MB) learning/memory circuit. We find FMRP regulates depolarization-induced calcium signaling in a neuron-specific manner within this circuit, suppressing activity-dependent calcium transients in excitatory cholinergic MB input projection neurons and enhancing calcium signals in inhibitory GABAergic MB output neurons. Both changes are restricted to the developmental critical period and rectified at maturity. Importantly, conditional genetic (dfmr1) rescue of null mutants during the critical period corrects calcium signaling defects in both neuron classes, indicating a temporally restricted FMRP requirement. Likewise, conditional dfmr1 knockdown (RNAi) during the critical period replicates constitutive null mutant defects in both neuron classes, confirming cell-autonomous requirements for FMRP in developmental regulation of calcium signaling dynamics. Optogenetic stimulation during the critical period enhances depolarization-induced calcium signaling in both neuron classes, but this developmental change is eliminated in dfmr1 null mutants, indicating the activity-dependent regulation requires FMRP. These results show FMRP shapes neuron class-specific calcium signaling in excitatory vs. inhibitory neurons in developing learning/memory circuitry, and that FMRP mediates activity-dependent regulation of calcium signaling specifically during the early

Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR.

Science.gov (United States)

McAninch, Damian S; Heinaman, Ashley M; Lang, Cara N; Moss, Kathryn R; Bassell, Gary J; Rita Mihailescu, Mihaela; Evans, Timothy L

2017-07-25

G quadruplex structures have been predicted by bioinformatics to form in the 5'- and 3'-untranslated regions (UTRs) of several thousand mature mRNAs and are believed to play a role in translation regulation. Elucidation of these roles has primarily been focused on the 3'-UTR, with limited focus on characterizing the G quadruplex structures and functions in the 5'-UTR. Investigation of the affinity and specificity of RNA binding proteins for 5'-UTR G quadruplexes and the resulting regulatory effects have also been limited. Among the mRNAs predicted to form a G quadruplex structure within the 5'-UTR is the survival motor neuron domain containing 1 (SMNDC1) mRNA, encoding a protein that is critical to the spliceosome. Additionally, this mRNA has been identified as a potential target of the fragile X mental retardation protein (FMRP), whose loss of expression leads to fragile X syndrome. FMRP is an RNA binding protein involved in translation regulation that has been shown to bind mRNA targets that form G quadruplex structures. In this study we have used biophysical methods to investigate G quadruplex formation in the 5'-UTR of SMNDC1 mRNA and analyzed its interactions with FMRP. Our results show that SMNDC1 mRNA 5'-UTR forms an intramolecular, parallel G quadruplex structure comprised of three G quartet planes, which is bound specifically by FMRP both in vitro and in mouse brain lysates. These findings suggest a model by which FMRP might regulate the translation of a subset of its mRNA targets by recognizing the G quadruplex structure present in their 5'-UTR, and affecting their accessibility by the protein synthesis machinery.

[Toilet training in mental retardation; approach to diurnal enuresis in a 12-year-old boy with hemiparesis].

NARCIS (Netherlands)

Moor, J.M.H. de; Frielink, N.; Roijen, L.E.

2010-01-01

A 12-year-old boy with hemiparesis, severe mental retardation, reduced mobility and behavioural problems was not yet toilet trained. He was successfully trained using a behavioural treatment. The training program was based on gradual prolongation of urine retention, the introduction of behaviour

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Directory of Open Access Journals (Sweden)

Baekgaard Peter

2009-02-01

Full Text Available Abstract WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region. We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12 located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.

Semantic and Phonological Loop Effects on Verbal Working Memory in Middle-Age Adults with Mental Retardation

Science.gov (United States)

Kittler, Phyllis; Krinsky-McHale, Sharon J.; Devenny, Darlynne A.

2004-01-01

Semantic and phonological loop effects on verbal working memory were examined among middle-age adults with Down syndrome and those with unspecified mental retardation in the context of Baddeley's working memory model. Recall was poorer for phonologically similar, semantically similar, and long words compared to recall of dissimilar short words.…

Consumer Preferences for Psychological Report Contents in a Residential School and Center for the Mentally Retarded.

Science.gov (United States)

Isett, Robert; Roszkowski, Michael

1979-01-01

Results of a survey of staff of a short-term residential facility serving mentally retarded clients indicate that recommendations and social competency information are perceived to be the most important sections of psychological reports while projective test personality interpretation and IQ test results are considered to have the least value.…

Rescue of Synaptic Phenotypes and Spatial Memory in Young Fragile X Mice.

Science.gov (United States)

Sun, Miao-Kun; Hongpaisan, Jarin; Alkon, Daniel L

2016-05-01

Fragile X syndrome (FXS) is characterized by synaptic immaturity, cognitive impairment, and behavioral changes. The disorder is caused by transcriptional shutdown in neurons of thefragile X mental retardation 1gene product, fragile X mental retardation protein. Fragile X mental retardation protein is a repressor of dendritic mRNA translation and its silencing leads to dysregulation of synaptically driven protein synthesis and impairments of intellect, cognition, and behavior, and FXS is a disorder that currently has no effective therapeutics. Here, young fragile X mice were treated with chronic bryostatin-1, a relatively selective protein kinase Cεactivator, which induces synaptogenesis and synaptic maturation/repair. Chronic treatment with bryostatin-1 rescues young fragile X mice from the disorder phenotypes, including normalization of most FXS abnormalities in 1) hippocampal brain-derived neurotrophic factor expression, 2) postsynaptic density-95 levels, 3) transformation of immature dendritic spines to mature synapses, 4) densities of the presynaptic and postsynaptic membranes, and 5) spatial learning and memory. The therapeutic effects were achieved without downregulation of metabotropic glutamate receptor (mGluR) 5 in the hippocampus and are more dramatic than those of a late-onset treatment in adult fragile X mice. mGluR5 expression was in fact lower in fragile X mice and its expression was restored with the bryostatin-1 treatment. Our results show that synaptic and cognitive function of young FXS mice can be normalized through pharmacological treatment without downregulation of mGluR5 and that bryostatin-1-like agents may represent a novel class of drugs to treat fragile X mental retardation at a young age and in adults. Copyright © 2016 by The American Society for Pharmacology and Experimental Therapeutics.

Antiepileptic Drug Behavioral Side Effects in Individuals with Mental Retardation and the Use of Behavioral Measurement Techniques.

Science.gov (United States)

Kalachnik, John E.; And Others

1995-01-01

Behavioral psychology measurement methods helped assess antiepileptic drug behavioral side effects in five individuals with mental retardation who could not verbally communicate presence of side effects. When the suspected antiepileptic drug was altered, an 81% reduction of maladaptive behaviors occurred. The measurement methods enabled systematic…

The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?

OpenAIRE

Castagnola, Sara; Bardoni, Barbara; Maurin, Thomas

2017-01-01

Fragile X Syndrome (FXS) is the most common form of intellectual disability and a primary cause of autism. It originates from the lack of the Fragile X Mental Retardation Protein (FMRP), which is an RNA-binding protein encoded by the Fragile X Mental Retardation Gene 1 (FMR1) gene. Multiple roles have been attributed to this protein, ranging from RNA transport (from the nucleus to the cytoplasm, but also along neurites) to translational control of mRNAs. Over the last 20 years many studies ha...

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

DEFF Research Database (Denmark)

Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

2011-01-01

done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Science.gov (United States)

Bartholdi, Deborah; Toelle, Sandra P; Steiner, Bernhard; Boltshauser, Eugen; Schinzel, Albert; Riegel, Mariluce

2008-01-01

Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;10 translocation with terminal duplication of 10q [dup(10)(q25.1-->qter)] and monosomy of a small terminal segment of chromosome 4q [del(4)(34.3-->qter)]. Detailed clinical examination and review of the literature showed that the phenotype of the patient was mainly determined by the dup(10q). This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. Some of these rearrangements-like the terminal dup(10q) identified in our patient or interstitial del(2q)-are associated with clearly defined phenotypes and can be well distinguished from each other on basis of clinical examination. This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome.

Etiological Analysis of Mental Retardation in Children and Their Siblings in Wuchang, Wuhan

Institute of Scientific and Technical Information of China (English)

官旭华; 卢祖洵; 石淑华; 杨志; 兰珍; 杨小莉; 饶继美; 胡敏; 卢媛; 喻兰; 冯德祥

2004-01-01

MENTAL RETARDATION (MR) is one of the mostfrequent and debilitating neurological handicaps inchildren and one of the few clinically important dis-orders for which the etiopathogenesis is still poorlyunderstood. MR is currently defined as a signifi-cant impairment of cognitive and adaptive functions,with onset before age 18. Recently, the prevalenceof MR in the Chinese population was estimated tobe 1.2%1 in comparison with 1%-10%2 in westerncountries. The prevalence of MR in a large popula-tion in Wuhang (97...

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

Directory of Open Access Journals (Sweden)

Kanavin Oivind J

2007-09-01

Full Text Available Abstract Background 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD is caused by a defect in the degradation pathway of the amino acid L-isoleucine. Methods We report a four-year-old mentally retarded Somali boy with autism and a history of seizures, who was found to excrete increased amounts of 2-methylbutyryl glycine in the urine. The SBCAD gene was examined with sequence analysis. His development was assessed with psychometric testing before and after a trial with low protein diet. Results We found homozygosity for A > G changing the +3 position of intron 3 (c.303+3A > G in the SBCAD gene. Psychometric testing showed moderate mental retardation and behavioral scores within the autistic spectrum. No beneficial effect was detected after 5 months with a low protein diet. Conclusion This mutation was also found in two previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD.

What do we learn from the mental retardation induced by prenatal exposure in Hiroshima and Nagasaki ?

International Nuclear Information System (INIS)

Otake, Masanori

1991-01-01

Significant effects of exposure to ionizing radiation on the developing brain are seen among those individuals prenatally exposed in the 8th through 25th weeks after fertilization. These effects, particularly in the most sensitive period, 8-15 weeks after fertilization, manifest themselves as an increased frequency of severe mental retardation, a diminution in IQ score and in school performance, and an increase in the occurrence of seizures. Of 30 SMR cases, 18(60%) had small heads. About 10% of the individuals with small head sizes observed among the in utero clinical sample were mentally retarded when we exclude two probable nonradiation-related cases of Down's syndrome from the 19 SMR cases exposed 8-15 weeks after fertilization, the 95% lower bound of the threshold based on the new dosimetry system appears to be in the range of 0.12-0.23 Gy. In the 16-25 weeks period, the 95% lower bound of the threshold is 0.21 Gy both with and without inclusion of two probable nonirradiation retarded cases. In a regression analysis of IQ scores and school performance data, a greater linearity is suggested with the new dosimetry (DS86) than with the old (T65DR), but the changes in the mean IQ scores and school performances in the low dose region are similar to the changes emerging in the control group, particularly so with doses under 0.10Gy. (author)

Detection of halogenated flame retardants in polyurethane foam by particle induced X-ray emission

International Nuclear Information System (INIS)

Maley, Adam M.; Falk, Kyle A.; Hoover, Luke; Earlywine, Elly B.; Seymour, Michael D.; DeYoung, Paul A.; Blum, Arlene; Stapleton, Heather M.; Peaslee, Graham F.

2015-01-01

A novel application of particle-induced X-ray emission (PIXE) has been developed to detect the presence of chlorinated and brominated flame retardant chemicals in polyurethane foams. Traditional Gas Chromatography–Mass Spectrometry (GC–MS) methods for the detection and identification of halogenated flame retardants in foams require extensive sample preparation and data acquisition time. The elemental analysis of the halogens in polyurethane foam performed by PIXE offers the opportunity to identify the presence of halogenated flame retardants in a fraction of the time and sample preparation cost. Through comparative GC–MS and PIXE analysis of 215 foam samples, excellent agreement between the two methods was obtained. These results suggest that PIXE could be an ideal rapid screening method for the presence of chlorinated and brominated flame retardants in polyurethane foams

Detection of halogenated flame retardants in polyurethane foam by particle induced X-ray emission

Energy Technology Data Exchange (ETDEWEB)

Maley, Adam M.; Falk, Kyle A.; Hoover, Luke; Earlywine, Elly B.; Seymour, Michael D. [Department of Chemistry, Hope College, 35 E. 12th Street, Holland, MI 49423 (United States); DeYoung, Paul A. [Department of Physics, Hope College, 27 Graves Place, Holland, MI 49423 (United States); Blum, Arlene [Green Science Policy Institute, Box 5455, Berkeley, CA 94705 (United States); Stapleton, Heather M. [Nicholas School of the Environment, Duke University, LSRC Box 90328, Durham, NC 27708 (United States); Peaslee, Graham F., E-mail: peaslee@hope.edu [Department of Chemistry, Hope College, 35 E. 12th Street, Holland, MI 49423 (United States)

2015-09-01

A novel application of particle-induced X-ray emission (PIXE) has been developed to detect the presence of chlorinated and brominated flame retardant chemicals in polyurethane foams. Traditional Gas Chromatography–Mass Spectrometry (GC–MS) methods for the detection and identification of halogenated flame retardants in foams require extensive sample preparation and data acquisition time. The elemental analysis of the halogens in polyurethane foam performed by PIXE offers the opportunity to identify the presence of halogenated flame retardants in a fraction of the time and sample preparation cost. Through comparative GC–MS and PIXE analysis of 215 foam samples, excellent agreement between the two methods was obtained. These results suggest that PIXE could be an ideal rapid screening method for the presence of chlorinated and brominated flame retardants in polyurethane foams.

A Mutation Affecting the Sodium/Proton Exchanger, "SLC9A6," Causes Mental Retardation with Tau Deposition

Science.gov (United States)

Garbern, James Y.; Neumann, Manuela; Trojanowski, John Q.; Lee, Virginia M.-Y.; Feldman, Gerald; Norris, Joy W.; Friez, Michael J.; Schwartz, Charles E.; Stevenson, Roger; Sima, Anders A. F.

2010-01-01

We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuronal and glial tau deposition in a pattern reminiscent…

Emotional Intelligence and Adaptive Success of Nurses Caring for People with Mental Retardation and Severe Behavior Problems

Science.gov (United States)

Gerits, Linda; Derksen, Jan J. L.; Verbruggen, Antoine B.

2004-01-01

The emotional intelligence profiles, gender differences, and adaptive success of 380 Dutch nurses caring for people with mental retardation and accompanying severe behavior problems are reported. Data were collected with the Bar-On Emotional Quotient Inventory, Utrecht-Coping List, Utrecht-Burnout Scale, MMPI-2, and GAMA. Absence due to illness…

Impact of various sociodemographic factors on oral hygiene of mentally retarded residing in Bhopal city, Madhya Pradesh: A cross-sectional study

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Sonal Kothari

2016-01-01

Full Text Available Introduction: Oral health of the mentally retarded (MR has received scant attention in the literature compared with the normal child even though they are much sufferer. Aim: To assess the impact of various sociodemographic factors on oral hygiene of MR subjects of Bhopal city. Materials and Methods: A descriptive cross-sectional study was conducted among 267 MR subjects enrolled at various institutions of Bhopal city. A pretested proforma was used to record information about demographic data, socioeconomic status, the intelligent quotient of inmates, type of mental retardation, and dietary habits. The clinical examination was done to evaluate oral hygiene of subjects using oral hygiene index-simplified (OHI-S. Descriptive statistics, Student's t-test, analysis of variance and multiple linear regression analysis was applied using Statistical Package for Social Sciences (SPSS software. Results: The mean OHI-S of MR was found out to be 2.51. Male had mean OHI-S of 2.95 while female had 1.65. Noninstitutionalized had poorer oral hygiene with mean OHI-S of 3.2. According to the degree of mental retardation, profound had the highest OHI-S score, i.e. 3.71 while mild had the lowest score, i.e. 1.01.

Molecular characterization of X chromosome fragility in idiopathic ...

African Journals Online (AJOL)

Heba Alla Hosny Omar

2015-11-23

Nov 23, 2015 ... Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients ... hence the wide clinical spectrum of disorders caused by this ... fragile X syndrome, autism and other less well-characterized.

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

Science.gov (United States)

Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

2017-07-19

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

Effects of Target Probability and Memory Demands on the Vigilance of Adults with and without Mental Retardation.

Science.gov (United States)

Tomporowski, Phillip D.; Tinsley, Veronica

1994-01-01

The vigilance of young adults with and without mild mental retardation (MR) was compared, with subjects performing two memory demanding, cognitively based tests. The vigilance decrement of MR adults declined more rapidly than did the vigilance of non-MR adults, due to an interaction between target detectability and response bias, and poor target…

Psychometric Properties of Sexuality and the Mental Retardation Attitude Inventory (SMRAI) in University Student of Lima

Science.gov (United States)

Domínguez, Sergio A.; Rimachi, Marlon

2014-01-01

The aim was to analyze the psychometric properties of "Sexuality and the Mental Retardation Attitude Inventory" (SMRAI) in a sample of 144 psychology college students 2nd to the 9th, of a private university in Lima, of which 44 were males (30.6%) and 100 female (69.4%), aged between 17 and 43 years (average: 21.9). The confirmatory…

A Controlled Single-Case Treatment of Severe Long-Term Selective Mutism in a Child with Mental Retardation

Science.gov (United States)

Facon, Bruno; Sahiri, Safia; Riviere, Vinca

2008-01-01

The aim of the present study was to demonstrate the efficacy of combining two operant learning procedures--shaping and fading--for treating selective mutism. The participant was a 12-year-old boy with mental retardation presenting a severe long-term selective mutism. The treatment was aimed at increasing the loudness of his vocalizations in an…

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Science.gov (United States)

Bichet, Daniel G; Bockenhauer, Detlef

2016-03-01

Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

Treatment of Fragile X Syndrome with a Neuroactive Steroid

Science.gov (United States)

2013-08-01

Fulks JL, O’Bryhim BE et al (2010) Dopamine release and uptake impairments and behavioral alterations observed in mice that model fragile x mental...D2 dopamine receptor agonist. J Cogn Neurosci 4(1):58–68 Luo Y, Shan G et al (2010) Fragile x mental retardation protein regulates proliferation and...AD_________________ Award Number: W81XWH-11-1-0626 TITLE: Treatment of Fragile X Syndrome with a

Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.

Science.gov (United States)

Joy, J E; Poglod, R; Murphy, D L; Sims, K B; de la Chapelle, A; Sankila, E M; Norio, R; Merril, C R

1991-01-01

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.

Piagetian Object Permanence in Severely Mentally Retarded Adults.

Science.gov (United States)

Brekke, Beverly; And Others

The measurability of sensorimotor development in 60 severely retarded, institutionalized adults was studied, using the Piagetian concept of object permanence in a delayed recall paradigm that involved special apparatus. Results suggested, among other things, that severely retarded, institutionalized adults learn most efficiently when trained with…

Adoptive and Birth Family Adjustment to Rearing Retarded Children.

Science.gov (United States)

Glidden, Laraine Masters; Bush, Beverly A.

The study identified 81 families who adopted children with mental retardation or at risk for mental retardation, and compared them with 61 matched families with similar birth children. For birth families, the initial diagnosis was a time of crisis, with high depression scores, while scores at follow-up (an average of 5.3 years later) indicated no…

Microcephaly, mental retardation and chromosomal aberrations in a girl following radiation therapy during late fetal life

Energy Technology Data Exchange (ETDEWEB)

Gustavson, K H; Jagell, S; Blomquist, H K; Nordenson, I [Umeaa Univ. (Sweden)

1981-01-01

A human foetus was heavily irradiated in the thirtieth to the thirty-third week due to carcinoma of the uterine cervix of the mother. Irradiation after 20 weeks of pregnancy is thought not to produce severe abnormalities. However, the child showed microcephaly, mental retardation, stunted growth, microphthalmus, retinal degeneration, cataract and defective dentition. Cytogenetically the frequencies of both chromatid and chromosome breaks were increased.

Microcephaly, mental retardation and chromosomal aberrations in a girl following radiation therapy during late fetal life

International Nuclear Information System (INIS)

Gustavson, K.-H.; Jagell, S.; Blomquist, H.K.; Nordenson, I.

1981-01-01

A human foetus was heavily irradiated in the thirtieth to the thirty-third week due to carcinoma of the uterine cervix of the mother. Irradiation after 20 weeks of pregnancy is thought not to produce severe abnormalities. However, the child showed microcephaly, mental retardation, stunted growth, microphthalmus, retinal degeneration, cataract and defective dentition. Cytogenetically the frequencies of both chromatid and chromosome breaks were increased. (Auth.)

De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

DEFF Research Database (Denmark)

Tos, T; Alp, M Y; Karacan, C D

2014-01-01

In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

Science.gov (United States)

Abaci, Ayhan; Wood, Kent; Demir, Korcan; Büyükgebiz, Atilla; Böber, Ece; Kopp, Peter

2010-01-01

To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis. The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride. Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.

Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits.

Directory of Open Access Journals (Sweden)

Snigdha Roy

Full Text Available Fragile X syndrome (FXS is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1 gene. The gene is located on the long arm of the X chromosome and encodes fragile X mental retardation protein (FMRP. Absence of FMRP in fragile X patients as well as in Fmr1 knockout (KO mice results, among other changes, in abnormal dendritic spine formation and altered synaptic plasticity in the neocortex and hippocampus. Clinical features of FXS include cognitive impairment, anxiety, abnormal social interaction, mental retardation, motor coordination and speech articulation deficits. Mouse pups generate ultrasonic vocalizations (USVs when isolated from their mothers. Whether those social ultrasonic vocalizations are deficient in mouse models of FXS is unknown. Here we compared isolation-induced USVs generated by pups of Fmr1-KO mice with those of their wild type (WT littermates. Though the total number of calls was not significantly different between genotypes, a detailed analysis of 10 different categories of calls revealed that loss of Fmr1 expression in mice causes limited and call-type specific deficits in ultrasonic vocalization: the carrier frequency of flat calls was higher, the percentage of downward calls was lower and that the frequency range of complex calls was wider in Fmr1-KO mice compared to their WT littermates.

Decreasing Signs of Negative Affect and Correlated Self-Injury in an Individual with Mental Retardation and Mood Disturbances.

Science.gov (United States)

Lindauer, Steven E.; DeLeon, Iser G.; Fisher, Wayne W.

1999-01-01

This study evaluated effects of an enriched environment, based on a paired-choice preference assessment, on rates of self-injurious behavior (SIB) and frequency of negative affect displayed by a woman with mental retardation and a mood disorder. Results suggested that SIB and negative affect were highly correlated and that the enriched environment…

Finding genes on the X chromosome by which homo may have become sapiens

Energy Technology Data Exchange (ETDEWEB)

Turner, G. [Univ. of Newcastle, Waratah, New South Wales (Australia)

1996-06-01

The map of the X chromosome is now littered, from one telomere to the other, with genes for mental handicap, alone or in combination with other features. In this issue of the journal, report such an entity from the Scottish Highlands, which they give the catchy title of {open_quotes}PPM-X syndrome,{close_quotes} denoting the association of pyramidal tract signs, psychosis, and macroorchidism with mental handicap (XLMR). They have localized this to Xq28 and discuss other genes in the same area, which include L1CAM (associated with MASA [mental retardation, aphasia, shuffling gait, and adducted thumbs] and X-linked hydrocephalus) and two genes for nonspecific XLMR-MRX3 and MRX25. It is also the localization of the gene for G6PD deficiency, which, in earlier studies, had demonstrated linkage to bipolar affective disorders, although this has been questioned in more recent studies. There may well be other families with this pattern of abnormalities who have remained undescribed because depression is so often not diagnosed in those with moderate mental handicap. The occurrence, in this family, of mental handicap with a bipolar disorder may be the chance association of two common disorders, or it may a significant association; at this stage, one cannot judge. 8 refs.

Gaming well: links between videogames and flourishing mental health.

Science.gov (United States)

Jones, Christian M; Scholes, Laura; Johnson, Daniel; Katsikitis, Mary; Carras, Michelle C

2014-01-01

This paper is a review of the state of play of research linking videogaming and flourishing, and explores the role of videogames and technology to improve mental health and well-being. Its purpose is to develop understandings about the positive intersection of gaming and well-being, to document evidence regarding links between videogames and positive mental health, and to provide guidelines for use by other researchers as they design and use tools and games to improve mental health and well-being. Using Huppert's (Huppert and So, 2013) proposition that to flourish is more than the absence of mental disorder but rather a combination of feeling good and functioning effectively, resulting in high levels of mental well-being, and Seligman's (Seligman, 2011) PERMA theory of well-being, the paper identifies strengths in existing games that generate positive affect, positive functioning, and positive social functioning, contributing to, and supporting mental health and well-being.

Gaming well: links between videogames and flourishing mental health

Directory of Open Access Journals (Sweden)

Christian eJones

2014-03-01

Full Text Available This paper is a review of the state of play of research linking videogaming and flourishing, and explores the role of videogames and technology to improve mental health and well-being. Its purpose is to develop understandings about the positive intersection of gaming and well-being, to document evidence regarding links between videogames and positive mental health, and to provide guidelines for use by other researchers as they design and use tools and games to improve mental health and well-being. Using Huppert’s (Huppert & So, 2013 proposition that to flourish is more than the absence of mental disorder but rather a combination of feeling good and functioning effectively resulting in high levels of mental well-being, and Seligman’s (Seligman, 2011 PERMA theory of well-being, the paper identifies strengths in existing games that generate positive affect, positive functioning and positive social functioning, contributing to, and supporting mental health and well-being.

SOCIAL ASPECTS OF THE NECESSITIES FOR THE DAILY CARE AND PRODUCTIVE ACTIVITY OF THE MODERATE AND SEVERED MENTALLY RETARDED PERSONS

Directory of Open Access Journals (Sweden)

Sunchica DIMITRIJOSKA

1998-12-01

Full Text Available The necessities for the daily care and productive activity of the moderate and severed mentally retarded persons are determinate by many cultural, traditional and social environments. In this context the part-time institutional treatment is very important for this persons.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

NARCIS (Netherlands)

Kalscheuer, V.M.M.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Smeets, D.F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; Ropers, H.H.

2008-01-01

We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

NARCIS (Netherlands)

Kalscheuer, Vera M.; Feenstra, Ilse; Van Ravenswaaij Arts, Conny M. A.; Smeets, Dominique F. C. M.; Menzel, Corinna; Ullmann, Reinhard; Musante, Luciana; Ropers, Hans-Hilger

2008-01-01

We have characterized a de novo balanced translocation (18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix transcription

Placement from community-based mental retardation programs: how well do clients do?

Science.gov (United States)

Schalock, R L; Harper, R S

1978-11-01

Mentally retarded clients (N = 131) placed during a 2-year period from either an independent living or competitive employment training program were evaluated as to placement success. Thirteen percent returned to the training program. Successful independent living placement was related to intelligence and demonstrated skills in symbolic operations, personal maintenance, clothing care and use, socially appropriate behavior, and functional academics. Successful employment was related to sensorimotor, visual-auditory processing, language, and symbolic-operations skills. Major reasons for returning from a job to the competitive employment training program included inappropriate behavior or need for more training; returning from community living placement was related to money management, apartment cleanliness, social behavior, and meal preparation.

Development of highly fire-retardant irradiated polyolefin cables

Energy Technology Data Exchange (ETDEWEB)

Ueno, Keiji; Inui, Toshifumi; Uda, Ikujiro (Sumitomo Electric Industries Ltd., Osaka (Japan))

1982-12-01

In recent years, motors, automobiles, heaters, etc., have been made into light weight and compact form in view of labour-saving and energy-saving. For this purpose, the wires for the electrical appliances used for these equipment are required to reduce insulation thickness and to improve heat resistance. On the other hand, the requirement for fire-retardant property has become severer than before from the viewpoint of safety. As an insulation for the wires which meets such requirement, the polyolefin cross-linked by irradiation was investigated, and the heat-resistant, highly fire-retardant, polyolefin-insulated wires have been developed, which have passed vertical combustion test (VW-1) and have the insulation thickness of 0.4 mm (voltage rating 300V) and UL standard 125 deg C and 150 deg C grades. Fire-retardant polyolefin resin is normally obtained by adding halogen series flame retarders. The selection of flame retarders requires the investigation on high thermal stability, high flame retardation, no impedance to cross-linking, and good dispersion into polymers. The evaluation of heat resistance performed on two points, thermal aging and thermal deformation. The use of oxidation inhibitors is indispensable to improve the anti-thermal aging capability, but it is important to balance the requirements well by combining oxidation inhibitors, considering thermal deformation, colouring and discolouration. By comparative test with silicone rubber, cross-linked polyethylene and cross-linked PVC-insulated wires, the characteristics of highly fire-retardant wires, insulated with polyethylene cross-linked by irradiation, are described about the fire retardation, thermal deformation, thermal aging resistance, electrical characteristics and oil resistance.

Clinical and neuroradiological study on adult cases of familial microcephaly associated with mental retardation and convulsive seizure

International Nuclear Information System (INIS)

Murakami, Nobuyuki; Kitabayashi, Toshiko.

1987-01-01

Microcephaly results from various causes, some genetic and some non-genetic. Recently, we encountered two families with microcephaly, mental retardation and convulsive seizure. These conform to an autosomal recessive mode of inheritance. All adult cases were analyzed to describe the characteristic neuroradiographic findings. Although each presented a similar neurologic outlook, two cases secondarily resulting from infection or injuries to the developing brain during postnatal periods showed a specific variation. Skull X-P and CT scan of these two cases showed thickening of the carvarium, predominantly fronto-parietal lobe atrophy of the cerebrum, enlargement of the ventricle, and compensatory hypertrophy of sinuses. Magnetic resonance imaging (MRI) showed severe micropolygyria and hypogenesis of corpus callosum. Abnormalities such as skull X-P, CT scan and MRI were severer in the secondary than in the primary microcephalics. Although brain volume was reduced, the volume ratio of cortex to white watter was similar to that of normal brain. MRI on severe cases of microcephaly revealed a high signal intensity in inversion-recovery images on the brain stem where markedly atrophy was noted. In adult microcephaly, the extent of cerebral development was thought to be reflected in the corpus callosum and brain stem where neuron fibers were densely gathered. (author)

Mental retardation and prenatal methylmercury toxicity

Energy Technology Data Exchange (ETDEWEB)

Trasande, L.; Schechter, C.B.; Haynes, K.A.; Landrigan, P.J. [CUNY Mt. Sinai School of Medicine, New York, NY (United States). Dept. of Community & Preventative Medicine

2006-03-15

Methylmercury (MeHg) is a developmental neurotoxicant; exposure results principally from consumption of seafood contaminated by mercury (Hg). In this analysis, the burden of mental retardation (MR) associated with methylmercury exposure in the 2000 U.S. birth cohort is estimated, and the portion of this burden attributable to mercury (Hg) emissions from coal-fired power plants is identified. The aggregate loss in cognition associated with MeHg exposure in the 2000 U.S. birth cohort was estimated using two previously published dose-response models that relate increases in cord blood Hg concentrations with decrements in IQ. MeHg exposure was assumed not to be correlated with native cognitive ability. Previously published estimates were used to estimate economic costs of MR caused by MeHg. Downward shifts in IQ resulting from prenatal exposure to MeHg of anthropogenic origin are associated with 1,566 excess cases of MR annually (range: 376-14,293). This represents 3.2% of MR cases in the US (range: 0.8%-29.2%). The MR costs associated with decreases in IQ in these children amount to $2.0 billion/year (range: $0.5-17.9 billion). Hg from American power plants accounts for 231 of the excess MR cases year (range: 28-2,109), or 0.5% (range: 0.06%-4.3%) of all MR. These cases cost $289 million (range: $35 million-2.6 billion). Toxic injury to the fetal brain caused by Hg emitted from coal-fired power plants exacts a significant human and economic toll on American children.

A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

OpenAIRE

Kalscheuer, Vera M.; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard

2009-01-01

Clustering of inhibitory γ-aminobutyric acidA (GABAA) and glycine receptors at synapses is thought to involve key interactions between the receptors, a “scaffolding” protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the brea...

Stemcell Information: SKIP000382 [SKIP Stemcell Database[Archive

Lifescience Database Archive (English)

Full Text Available SKIP000382 ... Diseased HPS0244 HPS0244 ... X連鎖αサラセミア·精神遅滞（ATR-X）症候群 D560 X-Linked alpha-Thalassemia...fic iPS cell line derived from a patient : X-Linked alpha-Thalassemia, Mental Retardation Syndrome (ATR-X sy

Role of Parents in the Education of Mentally Retarded Learners in Selected Schools in Madaraka Zone, Kiambu County, Kenya

Science.gov (United States)

Joseph, Gathua; Muthee, Jessica

2016-01-01

The purpose of the study was to examine the effects of parent's involvement in education on the academic performance of the mentally retarded learners in primary schools of selected schools in Thika Municipality, Kiambu County. The objectives of the study was to determine whether cultural beliefs among the parents affects the enrolments of…

Genetics Home Reference: X-linked creatine deficiency

Science.gov (United States)

... Health Conditions X-linked creatine deficiency X-linked creatine deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description X-linked creatine deficiency is an inherited disorder that primarily affects ...

Genetics Home Reference: X-linked sideroblastic anemia

Science.gov (United States)

... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

Guidelines for Biomedical and Pharmacological Research Procedures and the Protection of Human Subjects in Residential Facilities for Mentally Retarded Persons.

Science.gov (United States)

National Association for Retarded Citizens, Arlington, TX. Research and Demonstration Inst.

Guidelines are presented which were developed to aid federal, state, and local agencies prepare regulations concerning the use of mentally retarded subjects in biomedical and pharmacological research projects. Guidelines are set forth for the following topic areas (sample subtopics in parentheses): the formation of a Professional Review Committee…

Enzymatic properties and localization of motopsin (PRSS12), a protease whose absence causes mental retardation.

Science.gov (United States)

Mitsui, Shinichi; Yamaguchi, Nozomi; Osako, Yoji; Yuri, Kazunari

2007-03-09

Motopsin (PRSS12) is a mosaic protease expressed in the central nervous system. Truncation of the human motopsin gene causes nonsyndromic mental retardation. Understanding the enzymatic properties and localization of motopsin protein in the central nervous system will help identify the molecular mechanism by which the loss of motopsin function causes mental retardation. Recombinant motopsin showed amidolytic activity against the synthetic substrate benzyloxycarbonyl-l-phenylalanyl-l-arginine 4-methyl-coumaryl-7-amide. Motopsin activated the single-chain tissue plasminogen activator precursor and exhibited gelatinolytic activity. This enzymatic activity was inhibited by typical serine protease inhibitors such as aprotinin, leupeptin, and (4-amidinophenyl) methanesulfonyl fluoride. Immunocytochemistry using anti-motopsin IgG revealed that both human and mouse motopsin proteins were distributed in discrete puncta along the dendrites and soma as well as axons in cultured hippocampal neurons. In the limbic system, including the cingulate and hippocampal pyramidal neurons and piriform cortex, high level of motopsin protein was expressed at postnatal day 10, but a very low level at 10-week-old mice. Motopsin and tissue plasminogen activator were co-expressed in the cingulate pyramidal neurons at postnatal day 10 and were distributed along dendrites of cultured pyramidal neurons. In cranial nuclei, a moderate level of motopsin protein was detected independently on the developmental stage. Our results suggest that motopsin has multiple functions, such as axon outgrowth, arranging perineuronal environment, and maintaining neuronal plasticity, partly in coordination with other proteases including tissue plasminogen activator.

Mapping the x-linked lymphoproliferative syndrome

International Nuclear Information System (INIS)

Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

1987-01-01

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

Mapping the x-linked lymphoproliferative syndrome

Energy Technology Data Exchange (ETDEWEB)

Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

1987-04-01

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

Comparative Evaluation of Pediatric Patients with Mental Retardation undergoing Dental Treatment under General Anesthesia: A Retrospective Analysis.

Science.gov (United States)

Ahuja, Ravish; Jyoti, Bhuvan; Shewale, Vinod; Shetty, Shridhar; Subudhi, Santosh Kumar; Kaur, Manpreet

2016-08-01

Behavioral management of patients forms one of the foremost components of pediatric dental treatment. Some children readily cooperate with dental treatment, while others require general anesthesia as a part of treatment protocol for carrying out various dental procedures. Hence, we evaluated the pediatric patients with and without mental retardation, who underwent dental treatment under general anesthesia. The present study analyzed the record of 480 pediatric patients reporting in the department of pedodontics from 2008 to 2014. Analysis of the records of the patients who underwent dental treatment under general anesthesia was done and all the patients were divided into two study groups depending upon their mental level. For the purpose of evaluation, the patients were also grouped according to their age; 4 to 7 years, 8 to 12 years, and 13 to 18 years. Measurement of decayed, missing, and filled teeth and scores for both deciduous and permanent dentition was done before and after the commencement of the dental treatment. Chi-square test and independent t-test were used for evaluating the level of significance. While comparing the patients in the two groups, maximum number of patients is present in the age group of 13 to 18 years. While comparing the indices' score between the two study groups in various age intervals, no statistically significant results were obtained. Restorative treatment and dental extractions were the most common dental treatments that were seen at a higher frequency in the intellectual disability study group. In patients with mental retardation, a higher frequency of restorative treatment and extractions occurs as compared to healthy subjects of similar age group. Therefore, they require special attention regarding maintenance of their oral health. Special attention should be given for maintaining the oral health of patients with special health care needs as compared to their physically and mentally normal counterparts.

THE DISTURBANCE OF METABOLISM OF THE AMINO ACIDS AS A CAUSATIVE FOR THE MENTAL RETARDATION-PHENYLKETONURIA

Directory of Open Access Journals (Sweden)

Jasmina IVANOVSKA

2000-06-01

Full Text Available PKU is the rare single-gene disease belonging to disturbance of metabolism of the amino acids, which in its own basics halved the mutated gene, whose leaning at the 12-chromosome charge for the synthesis of phenylalanine hydroxylase, turning on phenylalanine into tyrosine. Enzyme block usually leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for normal body function. In PKU there is a toxic accumulation of phenylalanine behind the deficient enzyme, phenylalanine hydrоxylase. The symptoms are: lighten hare, blue eyes, lithe pigmented skin, convulsion, mental retardation, low level of adrenalin caused for the lack of tyrosine, the urine have a specific smell of rats or gab.Inheritance of disease become in autosomal recessive way which always become possibility to stay hidden in the family and to inherit from knee to knee without manifestation of its own phenotype.The only therapy that successfully avoids the causes of this disease is phenylalanine-restricted diet. Today we have some affords for improvement of gene therapy, which can help us for determination to these disease. The success of the therapy depends from timing of the right detection also diagnostics all trough equivalent therapy which can successfully interrupt the new forms of mental retardation and other symptoms.

X-linked hypophosphatemic rickets without 'rickets'

International Nuclear Information System (INIS)

Econs, M.J.; Feussner, J.R.; Quarles, L.D.; Veterans Administration Medical Center, Durham, NC; Samsa, G.P.; Veterans Administration Medical Center, Durham, NC; Effman, E.L.; Vogler, J.B.; Martinez, S.; Veterans Administration Medical Center, Durham, NC; Friedman, N.E.; Veterans Administration Medical Center, Durham, NC; Drezner, M.K.; Duke Univ. Medical Center, Durham, NC; Veterans Administration Medical Center, Durham, NC

1991-01-01

Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8% of wrist and knee films from normal and positive controls. In contrast, patients with X-linked hypophosphatemia exhibited rachitic abnormalities in only 5 of 11 wrist and 13 of 15 knee radiographs. Our data indicate that radiographically detectable rickets is a variable abnormality of X-linked hypophosphatemia and does not provide an unambiguous index for the diagnosis of this disease. (orig./GDG)

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

DEFF Research Database (Denmark)

Kanavin, Øjvind; Woldseth, Berit; Jellum, Egil

2007-01-01

previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD. PMID: 17883863 [PubMed - in process]......ABSTRACT: BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism...

Schritt fur Schritt: Die Durschsetzung der Rechte geistig behinderter Menschen; Pas a Pas: La mise en application des droits des personnes handicapees mentales; Paso a Paso: Puesta en practica de los derechos de los deficientes mentales (Step by Step: Implementation of the Rights of Mentally Retarded Persons).

Science.gov (United States)

International League of Societies for the Mentally Handicapped, Brussels (Belgium).

The booklet presents the proceedings (in English, French, Spanish, and German) of Session 62 of the Seventh World Congress of the International League of Societies for the Mentally Handicapped, detailing some analytical guidelines for national societies on the implementation of the rights of mentally retarded persons. Rights discussed include…

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

OpenAIRE

Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

1997-01-01

We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

DEFF Research Database (Denmark)

Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle

2005-01-01

BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available,...... dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause....

X-linked ichthyosis: clinical and molecular findings in 35 Italian patients.

Science.gov (United States)

Diociaiuti, Andrea; Angioni, Adriano; Pisaneschi, Elisa; Alesi, Viola; Zambruno, Giovanna; Novelli, Antonio; El Hachem, May

2018-04-19

Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis. Neuropsychiatric, ophthalmological and pediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty-seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Fragile X syndrome: A review of clinical management

Science.gov (United States)

Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

2016-01-01

Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

Science.gov (United States)

Godler, David E; Slater, Howard R; Bui, Quang M; Storey, Elsdon; Ono, Michele Y; Gehling, Freya; Inaba, Yoshimi; Francis, David; Hopper, John L; Kinsella, Glynda; Amor, David J; Hagerman, Randi J; Loesch, Danuta Z

2012-03-01

Cognitive status in females with mutations in the FMR1 (fragile X mental retardation 1) gene is highly variable. A biomarker would be of value for predicting which individuals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X-related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals. Study participants included 74 control females (Wechsler intelligence quotient (IQ) tests. We used MALDI-TOF mass spectrometry to determine the methylation status of FREE2 CpG sites that best identified low-functioning (IQ 200 CGG repeats), compared the results with those for Southern blot FMR1 activation ratios, and related these assessments to the level of production of the FMR1 protein product in blood. A methylation analysis of intron 1 CpG sites 10-12 showed the highest diagnostic sensitivity (100%) and specificity (98%) of all the molecular measures tested for detecting females with a standardized verbal IQ of <70 among the study participants. In the group consisting of only FM females, methylation of these sites was significantly correlated with full-scale IQ, verbal IQ, and performance IQ. Several verbal subtest scores showed strong correlation with the methylation of these sites (P = 1.2 × 10(-5)) after adjustment for multiple measures. The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.

Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

Science.gov (United States)

Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

2007-02-15

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

DEFF Research Database (Denmark)

Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

2011-01-01

Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox gene

Directory of Open Access Journals (Sweden)

MacMillan Andrée

2005-04-01

Full Text Available Abstract Background X-linked mental retardation (XLMR is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation. Methods Genomic DNA from XLMR families linked to Xp22.1 was amplified for exon 2 in ARX using a Cy5 labeled primer pair. The resulting amplicons were sized using the ALFexpress automated sequencer. Results A panel of 11 families with X-linked mental retardation was screened for the ARX 24dup mutation. Four nonsyndromic XLMR families – MRX29, MRX32, MRX33 and MRX38 – were found to have this particular gene mutation. Conclusion We have identified 4 additional XLMR families with the ARX dup24 mutation from a panel of 11 XLMR families linked to Xp22.1. This finding makes the ARX dup24 mutation the most common mutation in nonsyndromic XLMR families linked to Xp22.1. As this mutation can be readily tested for using an automated sequencer, screening should be considered for any male with nonsyndromic MR of unknown etiology.

SOME ANTICIPATIONS FOR THE TREATMENT OF THE MENTALLY RETARDED CHILDREN THROUGH THE WORK IN THE SPECIAL PRIMARY SCHOOL-VELES

Directory of Open Access Journals (Sweden)

Tanja POPOVA

1998-04-01

Full Text Available In this article is presented the quantitative analysis of the distribution of the children in Special Primary School "Maca Ovcarova"-Veles, in the period from 1973 to 1996. Also here given some important factors for reduction of the children in this school, as well as the suggestions for bigger range of the mentally retarded children in special education.

Diagnostic, carrier and prenatal genetic testing for fragile X ...

African Journals Online (AJOL)

Background. Fragile X syndrome (FXS), the most common inherited cause of intellectual disability (ID) worldwide, is caused by the expansion of a CGG repeat in the fragile X mental retardation gene (FMR-1) gene. Objectives. To review, retrospectively, the genetic services for FXS and other FMR-1-related disorders ...

Astrocytic Contributions to Synaptic and Learning Abnormalities in a Mouse Model of Fragile X Syndrome.

Science.gov (United States)

Hodges, Jennifer L; Yu, Xinzhu; Gilmore, Anthony; Bennett, Hannah; Tjia, Michelle; Perna, James F; Chen, Chia-Chien; Li, Xiang; Lu, Ju; Zuo, Yi

2017-07-15

Fragile X syndrome (FXS) is the most common type of mental retardation attributable to a single-gene mutation. It is caused by FMR1 gene silencing and the consequent loss of its protein product, fragile X mental retardation protein. Fmr1 global knockout (KO) mice recapitulate many behavioral and synaptic phenotypes associated with FXS. Abundant evidence suggests that astrocytes are important contributors to neurological diseases. This study investigates astrocytic contributions to the progression of synaptic abnormalities and learning impairments associated with FXS. Taking advantage of the Cre-lox system, we generated and characterized mice in which fragile X mental retardation protein is selectively deleted or exclusively expressed in astrocytes. We performed in vivo two-photon imaging to track spine dynamics/morphology along dendrites of neurons in the motor cortex and examined associated behavioral defects. We found that adult astrocyte-specific Fmr1 KO mice displayed increased spine density in the motor cortex and impaired motor-skill learning. The learning defect coincided with a lack of enhanced spine dynamics in the motor cortex that normally occurs in response to motor skill acquisition. Although spine density was normal at 1 month of age in astrocyte-specific Fmr1 KO mice, new spines formed at an elevated rate. Furthermore, fragile X mental retardation protein expression in only astrocytes was insufficient to rescue most spine or behavioral defects. Our work suggests a joint astrocytic-neuronal contribution to FXS pathogenesis and reveals that heightened spine formation during adolescence precedes the overabundance of spines and behavioral defects found in adult Fmr1 KO mice. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

Science.gov (United States)

Hall, Deborah A; Berry-Kravis, Elizabeth

2018-01-01

Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy. Fragile X-associated primary ovarian insufficiency also occurs in premutation carrier women and manifests with infertility and early menopause. The diseases constituting fragile X-associated disorders differ mechanistically, due to the distinct molecular properties of premutation versus full mutations. Fragile X syndrome occurs when there is a lack of fragile X mental retardation protein (FMRP) due to FMR1 methylation and silencing. In fragile X-associated tremor ataxia syndrome, a toxic gain of function is postulated with the production of excess CGG repeat-containing FMR1 mRNA, abnormal translation of the repeat sequence leading to production of polyglycine, polyalanine, and other polypeptides and to outright deficits in translation leading to reduced FMRP at larger premutation sizes. The changes in underlying brain chemistry due to FMR1 mutations have led to therapeutic studies in these disorders, with some progress being made in fragile X syndrome. This paper also summarizes indications for testing, genetic counseling issues, and what the future holds for these disorders. Copyright © 2018 Elsevier B.V. All rights reserved.

Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

Science.gov (United States)

Horesh, Nir; Pery, Ron; Amiel, Imri; Shwaartz, Chaya; Speter, Chen; Guranda, Larisa; Gutman, Mordechai; Hoffman, Aviad

2015-11-01

Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients. © 2015 Wiley Periodicals, Inc.

The life-world of mothers who care for mentally retarded children: the Katutura township experience.

Science.gov (United States)

Ntswane, A M; van Rhyn, L

2007-03-01

This article reports on a research study done in Katutura Township, near Windhoek. A qualitative, exploratory, descriptive and contextual design was followed to answer the research question investigating experiences of mothers caring for mentally retarded children at home. Phenomenological interviews were conducted with a purposefully selected sample of twelve mothers. The meaning of their experiences was analysed by using Teschxs method (1990 in Creswell, 1994:155) of analysing qualitative data. The results indicated various emotions and challenges experienced by these mothers during the care of their children. Feelings of shock, despondency and sadness dominated the early stages when the retarded children were still young. During later years, as the children were growing up, the mothers felt shame, fear, frustration, anger, disappointment and worry. However, acceptance followed, as the children grew older. Stigma seemed to affect all the respondents. Support in any form or lack thereof seemed to be the decisive factor-positioning mothers along a continuum of two extremes, namely despairing isolation and integrated happiness. Recommendations were made regarding the improvement of heath care services and education of the mothers and their families.

Development of Theory of Mind in Mentally Retarded Students and its Relation with the Number of the Siblings

Directory of Open Access Journals (Sweden)

Mehdi Abdollah-Zadeh Rafi

2011-01-01

Conclusion: Theory of mind development of mental retarded students varies based on that type of task being used to assess. In total, the claim of Theory-Theory approach, that says theory of mind development is on the basis of necessary processes, could be accepted. Also those theories which are based on cultural-social approaches calming that experience with other people causes development of mind understanding need to be more examined.

[Professional stressors and common mental health disorders: Causal links?

Science.gov (United States)

Nicolas, C; Chawky, N; Jourdan-Ionescu, C; Drouin, M-S; Page, C; Houlfort, N; Beauchamp, G; Séguin, M

2017-03-22

According to the World Health Organization, depression has become the leading cause of disability in the world, contributing significantly to the burden of health issues especially in the industrialized countries. This is a major public health problem, with potential impact on work climates, productivity at work and the continued existence of the organizations. Some recent studies have examined potential links between professional factors and common mental health disorders, but none have demonstrated a direct causal link. In the present study, we explored possible links between work-related stressors and common mental health disorders, with the objective of determining priority mental health prevention axes. The study used a life trajectory method. We compared professional stressors and difficulties present in other spheres of life in the last five years between two groups: a group of 29 participants with common mental health disorders during the last five years (depression, anxiety disorders, eating disorders, substance use disorders, pathological gambling), and a group of 29 participants who have not experienced a mental health disorder in the last five years. Data were collected from semi-structured interviews with the participants using a life course analysis method. Each participant was interviewed during two or three meetings of two to three hour duration. Questions regarding difficulties in different spheres of life and mental health were asked. More precisely, data were collected with regards to the presence or absence of mental health disorders in the last five years and the nature of mental health disorders and difficulties. Moreover, we collected data pertaining to the most important positive and negative events in different spheres of life that were present in the last five years, including family life, romantic relationships, social life, academic difficulties, losses and separations, episodes of personal difficulties, financial difficulties as well as

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

Science.gov (United States)

Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar

2011-10-01

Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

Unexplained mental retardation: is brain MRI useful?

Energy Technology Data Exchange (ETDEWEB)

Decobert, Fabrice; Merzoug, Valerie; Kalifa, Gabriel; Adamsbaum, Catherine [Saint Vincent de Paul Hospital, Department of Radiology, 75674 Paris Cedex 14 (France); Grabar, Sophie [Cochin Hospital, Department of Biostatistics and Medical Information, Paris (France); Ponsot, Gerard [Saint Vincent de Paul Hospital, Department of Neuropaediatrics, Paris (France); Des Portes, Vincent [Saint Vincent de Paul Hospital, Department of Neuropaediatrics, Paris (France); Debrousse Hospital, Department of Neuropaediatrics, Lyon (France)

2005-06-01

Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children. Patients and methods: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100). Two radiologists conducted an independent review of the MRI scans. Univariate and multivariate analyses showed a higher incidence of brain anomalies in the MR group than in the control group (53 vs 17, OR=5.7 [2.9-11.1]), for signal abnormalities within the periventricular white matter (OR=20.3 [2.6-155.3]), lateral ventricular dilatation (OR=15.6 [2.0-124]), mild corpus callosum abnormalities (shortness, atrophy) (OR=6.8 [1.8-25.6]) and subtle cerebellar abnormalities, including fissure enlargement (OR=5.2 [1.1-26.2]). The diagnostic value of MRI abnormalities was considered good in 5% of patients (Alexander disease n=1, diffuse cortical malformation n=1, leukomalacia n=1, vermian agenesis n=1, commissural agenesis n=1), and weak in 48% of patients, in whom non-specific abnormalities did not lead to a diagnosis. Some clinical features resulted in a significantly higher percentage of abnormal MRI scans: abnormal neurological examination (82% vs 47%, P=0.008), abnormal skull circumference (66% vs 49%, P=0.04). Motor delay was associated with cerebellar abnormalities (P=0.01). (orig.)

Unexplained mental retardation: is brain MRI useful?

International Nuclear Information System (INIS)

Decobert, Fabrice; Merzoug, Valerie; Kalifa, Gabriel; Adamsbaum, Catherine; Grabar, Sophie; Ponsot, Gerard; Des Portes, Vincent

2005-01-01

Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children. Patients and methods: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100). Two radiologists conducted an independent review of the MRI scans. Univariate and multivariate analyses showed a higher incidence of brain anomalies in the MR group than in the control group (53 vs 17, OR=5.7 [2.9-11.1]), for signal abnormalities within the periventricular white matter (OR=20.3 [2.6-155.3]), lateral ventricular dilatation (OR=15.6 [2.0-124]), mild corpus callosum abnormalities (shortness, atrophy) (OR=6.8 [1.8-25.6]) and subtle cerebellar abnormalities, including fissure enlargement (OR=5.2 [1.1-26.2]). The diagnostic value of MRI abnormalities was considered good in 5% of patients (Alexander disease n=1, diffuse cortical malformation n=1, leukomalacia n=1, vermian agenesis n=1, commissural agenesis n=1), and weak in 48% of patients, in whom non-specific abnormalities did not lead to a diagnosis. Some clinical features resulted in a significantly higher percentage of abnormal MRI scans: abnormal neurological examination (82% vs 47%, P=0.008), abnormal skull circumference (66% vs 49%, P=0.04). Motor delay was associated with cerebellar abnormalities (P=0.01). (orig.)

The Political Values of Mentally Retarded Citizens.

Science.gov (United States)

Green, Barbara B.; Klein, Nancy K.

1980-01-01

The findings indicated that the retarded are affected by the process of political socialization much like their nonretarded peers. In forming a ranking of goal-values, age and socioeconomic status outweighed differences in cognitive ability. (Author/DLS)

Separate and Combined Effects of Behavior Rehearsal and Self-Other Modeling Variations on the Grooming Skill Acquisition of Mentally Retarded Women.

Science.gov (United States)

Petroski, Richard A.; And Others

1983-01-01

Compared the separate and combined effects of behavior rehearsal and modeling on grooming skill development of mentally retarded women (N=48). All treatments were superior to the control condition. Modeling and behavior rehearsal were both effective but there was no advantage to combining them. Cost effectiveness favored the other-model procedure.…

Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development

NARCIS (Netherlands)

K.E. Slegtenhorst-Eegdeman; D.G. de Rooij; M. Verhoef-Post (Miriam); H.J.G. van de Kant (Henk); C.E. Bakker (Cathy); B.A. Oostra (Ben); J.A. Grootegoed (Anton); A.P.N. Themmen (Axel)

1998-01-01

textabstractThe fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and expanding trinucleotide CGG repeat located in the 5'-untranslated region of the gene involved, the fragile

Children with Usher syndrome: mental and behavioral disorders.

Science.gov (United States)

Dammeyer, Jesper

2012-03-27

Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

Children with Usher syndrome: mental and behavioral disorders

Directory of Open Access Journals (Sweden)

Dammeyer Jesper

2012-03-01

Full Text Available Abstract Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder. Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Science.gov (United States)

Bijlsma, E K; Collins, A; Papa, F T; Tejada, M I; Wheeler, P; Peeters, E A J; Gijsbers, A C J; van de Kamp, J M; Kriek, M; Losekoot, M; Broekma, A J; Crolla, J A; Pollazzon, M; Mucciolo, M; Katzaki, E; Disciglio, V; Ferreri, M I; Marozza, A; Mencarelli, M A; Castagnini, C; Dosa, L; Ariani, F; Mari, F; Canitano, R; Hayek, G; Botella, M P; Gener, B; Mínguez, M; Renieri, A; Ruivenkamp, C A L

2012-06-01

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Someday I May Want to Know about...Leisure and Recreational Activities for Children and Adults with Mental Retardation. A MCARC Information Sheet.

Science.gov (United States)

Montgomery County Association for Retarded Citizens, Rockville, MD.

The fact sheet considers the importance of recreation and leisure time activities for people with mental retardation. A case is made for mainstreamed services, and suggestions are offered for families seeking to procure successful mainstreamed experiences in community recreational programs. Among suggestions are adapting family games to the…

Disease: H01919 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01919 Proud syndrome Proud syndrome is a syndromic X-linked mental retardation, c...nse mutations in the homeobox domain cause malformation syndromes such as Proud syndrome. Developmental diso

WYOMING MENTAL ABILITY SURVEY, 1957-58.

Science.gov (United States)

LINFORD, VELMA

A STATEWIDE PROGRAM WAS INITIATED IN WYOMING FOR THE PURPOSES OF DISCOVERING THE EXTENT OF MENTAL RETARDATION AMONG ELEMENTARY AND SECONDARY STUDENTS IN THE STATE, DETERMINING WHERE THE MENTALLY RETARDED ARE FOUND, AND PLANNING AN EDUCATIONAL PROGRAM FOR THEM. GROUP MENTAL TESTS WERE APPLIED TO 67,620 CHILDREN WHICH REPRESENTED 91.8 PERCENT OF THE…

X-linked Alport syndrome

DEFF Research Database (Denmark)

Jais, Jean Philippe; Knebelmann, Bertrand; Giatras, Iannis

2003-01-01

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease...... in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X...... to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified...

Perceptions of a Person with Mental Retardation as a Function of Participation in Integrated versus Segregated Recreation/Sport Activities: An Experimental Analysis

Science.gov (United States)

Kellow, J. Thomas; Frey, Georgia C.; Sandt, Dawn Rosser

2007-01-01

This study is a conceptual replication of previous work by Storey, Stern, & Parker (1990) that examined the influence of participation in integrated vs. segregated recreation/sports activities on evaluations of a person with mental retardation by persons without a disability. The Storey et al., (1990) study observed that people with mental…

Bezafibrate for X-Linked Adrenoleukodystrophy

NARCIS (Netherlands)

Engelen, Marc; Tran, Luc; Ofman, Rob; Brennecke, Josephine; Moser, Ann B.; Dijkstra, Inge M. E.; Wanders, Ronald J. A.; Poll-The, Bwee Tien; Kemp, Stephan

2012-01-01

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests as a gradually progressive myelopathy,

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

NARCIS (Netherlands)

Wortmann, S.B.; Rodenburg, R.J.T.; Schwahn, B.; Smeitink, J.A.M.; Morava, E.

2007-01-01

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat.

The life-world of mothers who care for mentally retarded children: the Katutura township experience

Directory of Open Access Journals (Sweden)

A.M. Ntswane

2007-09-01

Full Text Available This article reports on a research study done in Katutura Township, near Windhoek. A qualitative, exploratory, descriptive and contextual design was followed to answer the research question investigating experiences of mothers caring for mentally retarded children at home. Phenomenological interviews were conducted with a purposefully selected sample of twelve mothers. The meaning of their experiences was analysed by using Teschxs method (1990 in Creswell, 1994:155 of analysing qualitative data. The results indicated various emotions and challenges experienced by these mothers during the care of their children. Feelings of shock, despondency and sadness dominated the early stages when the retarded children were still young. During later years, as the children were growing up, the mothers felt shame, fear, frustration, anger, disappointment and worry. However, acceptance followed, as the children grew older. Stigma seemed to affect all the respondents. Support in any form or lack thereof seemed to be the decisive factor-positioning mothers along a continuum of two extremes, namely despairing isolation and integrated happiness. Recommendations were made regarding the improvement of heath care services and education of the mothers and their families.

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model

NARCIS (Netherlands)

S. Zeidler (Shimriet); A.S. Pop (Andreea); I.A. Jaafar; H. De Boer (Helen); R.A.M. Buijsen (Ronald); C. de Esch (Celine); I.M. Nieuwenhuizen-Bakker; R.K. Hukema (Renate); R. Willemsen (Rob)

2018-01-01

textabstractIntroduction: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental retardation protein (FMRP), a translational regulator

The Effect of Labels Only and Labels with Instruction on the Concept Attainment of Educable Mentally Retarded and Normally Developing Boys of School Age. Technical Report No. 301.

Science.gov (United States)

Gargiulo, Richard Michael

Examined were the effects of verbal labels alone and in combination with two types of instruction on the concept attainment of 80 educable mentally retarded and 80 normal boys of school age matched for mental age. For learning the concept "equilateral triangle" Ss were randomly assigned to one of four experimental treatment conditions: verbal…

Análise da percepção de competência física de crianças com deficiência mental Examination of perceived physical competence of children with mental retardation

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Larissa Daniele Rubira Strioto

2009-12-01

Full Text Available O objetivo deste estudo descritivo foi analisar a percepção de competência física de crianças com deficiência mental (DM moderada em relação a diferentes idades e gêneros, bem como comparar a percepção de competência física dos praticantes e não-praticantes de atividades físicas ou esportivas. Foram sujeitos 76 crianças. Como instrumento foi utilizada a Pictorial Scale of Perceived Physical Competence for Children with Mental Retardation, um questionário com questões referentes à prática de atividades físicas e/ou desportivas fora do ambiente escolar e outro com questões referentes às atividades realizadas dentro do ambiente escolar. Os resultados sugerem que: crianças com deficiência mental moderada apresentam alta percepção de competência; não houve diferença significativa entre gêneros; crianças com idade de 12 anos apresentaram níveis de percepção de competência física menor do que a das crianças de 7, 8 e 9 anos (p= 0,01; crianças que praticam exercícios físicos ou esportes têm percepção de competência física menor do que os não-praticantes. Assim conclui-se: a prática de exercícios físicos/esportivos evidencia-se como elemento interveniente na elaboração dos critérios de julgamento da percepção de competência das crianças, auxiliando na construção de parâmetros avaliativos mais precisos e realistas.The objective of this descriptive study was to analyze the perceived physical competence of children with mild mental retardation in relation to different ages and genders as well as to compare the perceived physical competence of children that practice and children that don't practice physical or sports activities. The sample consisted of 76 children. The instruments used were the Pictorial Scale of Perceived Physical Competence for Children with Mental Retardation, a questionnaire assessing the practice of physical activities or sports out of school and another questionnaire assessing

Some Thoughts on Counseling Parents of the Mentally Retarded. Final Report.