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Sample records for pitt-hopkins-like mental retardation

  1. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

    DEFF Research Database (Denmark)

    Zweier, Christiane; de Jong, Eiko K; Zweier, Markus;

    2009-01-01

    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy...... protein can reorganize synaptic morphology and induce increased density of active zones, the synaptic domains of neurotransmitter release. Moreover, both Nrx-I and Nrx-IV determine the level of the presynaptic active-zone protein bruchpilot, indicating a possible common molecular mechanism in Nrx......, and schizophrenia. We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies...

  2. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

    Science.gov (United States)

    Zweier, Christiane; de Jong, Eiko K; Zweier, Markus; Orrico, Alfredo; Ousager, Lilian B; Collins, Amanda L; Bijlsma, Emilia K; Oortveld, Merel A W; Ekici, Arif B; Reis, André; Schenck, Annette; Rauch, Anita

    2009-11-01

    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome. With a frequency of at least 1% in our cohort of 179 patients, recessive defects in CNTNAP2 appear to significantly contribute to severe MR. Whereas the established synaptic role of NRXN1 suggests that synaptic defects contribute to the associated neuropsychiatric disorders and to severe MR as reported here, evidence for a synaptic role of the CNTNAP2-encoded protein CASPR2 has so far been lacking. Using Drosophila as a model, we now show that, as known for fly Nrx-I, the CASPR2 ortholog Nrx-IV might also localize to synapses. Overexpression of either protein can reorganize synaptic morphology and induce increased density of active zones, the synaptic domains of neurotransmitter release. Moreover, both Nrx-I and Nrx-IV determine the level of the presynaptic active-zone protein bruchpilot, indicating a possible common molecular mechanism in Nrx-I and Nrx-IV mutant conditions. We therefore propose that an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and CNTNAP2.

  3. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

    NARCIS (Netherlands)

    Zweier, C.; Jong, E.K. de; Zweier, M.; Orrico, A.; Ousager, L.B.; Collins, A.L.; Bijlsma, E.K.; Oortveld, M.A.W.; Ekici, A.B.; Reis, A.; Schenck, A.; Rauch, A.

    2009-01-01

    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophr

  4. 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

  5. X linked mental retardation.

    Science.gov (United States)

    Rejeb, Imen; Ben Jemaa, Lamia; Chaabouni, Habiba

    2009-05-01

    Mental retardation (MR) is a group of heterogeneous clinical conditions. There are more than 900 genetic disorders associated with MR and it affects around 3% of the general population. Many MR conditions described are syndromic, fragile X syndrome being the most common clinical entity among them. X linked mental retardation (XLMR) is subdivided in two categories: syndromic XLMR (MRXS) when MR is associated with clinical features and non-syndromic XLMR (MRX) when MR is isolated. The aim of this systematic review of the literature was to join together the results of several studies related to X linked mental retardation and to present various genes implicated in this disease. In this review, focus has been given on genes implicated in mental retardation, the clinical data and on phenotype-genotype correlations. An exhaustive electronic and library research of the recent literature was carried out on the Web sites "Science Direct" and "Interscience Wiley". The key words used were "mental retardation", "X chromosome", "gene", "syndromic mental retardation", "non-syndromic mental retardation". In this review a number of X linked genes, the clinical features associated with the gene abnormality, and the prevalence of the disease gene are discussed. We classified these genes by order of their first implication in MR. A table presented on the XLMR Update Web site who list the 82 known XLMR genes is available as XLMR Genes and corresponding proteins.

  6. Genetics of mental retardation

    OpenAIRE

    Ahuja A; Thapar Anita; Owen M

    2005-01-01

    Mental retardation can follow any of the biological, environmental and psychological events that are capable of producing deficits in cognitive functions. Recent advances in molecular genetic techniques have enabled us to understand more about the molecular basis of several genetic syndromes associated with mental retardation. In contrast, where there is no discrete cause, the interplay of genetic and environmental influences remains poorly understood. This article presents a critical review ...

  7. X-linked mental retardation.

    NARCIS (Netherlands)

    Ropers, H.H.; Hamel, B.C.J.

    2005-01-01

    Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to

  8. Recurrence risks in mental retardation.

    OpenAIRE

    Crow, Y J; Tolmie, J L

    1998-01-01

    Despite improvements in diagnostic techniques and progress made in mapping genes associated with syndromal mental handicap, the estimation of recurrence risks in non-syndromal mental retardation is still dependent on empirical data. Unfortunately, few studies are available to guide the clinician and their results differ significantly. For example, recurrence risks to all sibs of a male index patient with severe mental retardation vary between 3.5% and 14% in commonly quoted series. The presen...

  9. Epigenetic mechanisms of mental retardation.

    Science.gov (United States)

    Schaefer, Anne; Tarakhovsky, Alexander; Greengard, Paul

    2011-01-01

    Mental retardation is a common form of cognitive impairment affecting approximately 3% of the population in industrialized countries. The mental retardation syndrome incorporates a highly diverse group of mental disorders characterized by the combination of cognitive impairment and defective adaptive behavior. The genetic basis of the disease is strongly supported by identification of the genetic lesions associated with impaired cognition, learning, and social adaptation in many mental retardation syndromes. Several of the impaired genes encode epigenetic regulators of gene expression. These regulators exert their function through genome-wide posttranslational modification of histones or by mediating and/or recognizing DNA methylation. In this chapter, we review the most recent advances in the field of epigenetic mechanisms of mental retardation. In particular, we focus on animal models of the human diseases and the mechanism of transcriptional deregulation associated with changes in the cell epigenome.

  10. Balanced translocations in mental retardation.

    Science.gov (United States)

    Vandeweyer, Geert; Kooy, R Frank

    2009-07-01

    Over the past few decades, the knowledge on genetic defects causing mental retardation has dramatically increased. In this review, we discuss the importance of balanced chromosomal translocations in the identification of genes responsible for mental retardation. We present a database-search guided overview of balanced translocations identified in patients with mental retardation. We divide those in four categories: (1) balanced translocations that helped to identify a causative gene within a contiguous gene syndrome, (2) balanced translocations that led to the identification of a mental retardation gene confirmed by independent methods, (3) balanced translocations disrupting candidate genes that have not been confirmed by independent methods and (4) balanced translocations not reported to disrupt protein coding sequences. It can safely be concluded that balanced translocations have been instrumental in the identification of multiple genes that are involved in mental retardation. In addition, many more candidate genes were identified with a suspected but (as yet?) unconfirmed role in mental retardation. Some balanced translocations do not disrupt a protein coding gene and it can be speculated that in the light of recent findings concerning ncRNA's and ultra-conserved regions, such findings are worth further investigation as these potentially may lead us to the discovery of novel disease mechanisms.

  11. 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

  12. Auto cannibalism in mental retardation

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    Rohit Verma

    2014-01-01

    Full Text Available Mental retardation (MR deems an individual more vulnerable to psychopathologies. The individual may develop an array of behavioral disturbances manifesting themselves in the form of aggressive and destructive conduct, violent fits of anger, stereotyped, or self-injuring behavior. Self-injurious behavior is heterogeneous in nature ranging from mild to severe variant. We report a case of a 7-year-old boy with MR with self-inflicted severe oral injuries of cannibalistic nature presenting as cleft lip and palate. A more extensive research is needed on the problem behaviors in mentally retarded patients for early detection and effective and timely intervention leading to a better outcome.

  13. Auto cannibalism in mental retardation.

    Science.gov (United States)

    Verma, Rohit; Mina, Shaily; Sachdeva, Ankur

    2014-01-01

    Mental retardation (MR) deems an individual more vulnerable to psychopathologies. The individual may develop an array of behavioral disturbances manifesting themselves in the form of aggressive and destructive conduct, violent fits of anger, stereotyped, or self-injuring behavior. Self-injurious behavior is heterogeneous in nature ranging from mild to severe variant. We report a case of a 7-year-old boy with MR with self-inflicted severe oral injuries of cannibalistic nature presenting as cleft lip and palate. A more extensive research is needed on the problem behaviors in mentally retarded patients for early detection and effective and timely intervention leading to a better outcome.

  14. Detection of Malingered Mental Retardation

    Science.gov (United States)

    Shandera, Anne L.; Berry, David T. R.; Clark, Jessica A.; Schipper, Lindsey J.; Graue, Lili O.; Harp, Jordan P.

    2010-01-01

    In a cross-validation of results from L. O. Graue et al. (2007), standard psychological assessment instruments, as well as tests of neurocognitive and psychiatric feigning, were administered under standard instructions to 24 participants diagnosed with mild mental retardation (MR) and 10 demographically matched community volunteers (CVH). A 2nd…

  15. Mental Retardation: Prevention Strategies That Work.

    Science.gov (United States)

    President's Committee on Mental Retardation, Washington, DC.

    The report by the President's Committee on Mental Retardation reviews the current state of knowledge in the area of biological and environmental prevention of mental retardation and describes programs on the frontiers of research or service delivery. Section I examines programs that are effectively preventing mental retardation through biomedical…

  16. MENTAL RETARDATION--THE PRESENT PROBLEM.

    Science.gov (United States)

    SHAFTER, ALBERT J.

    MENTAL RETARDATION IS DEFINED AS A MENTAL DEFECT, NOT A DISEASE. LEVELS OF SEVERITY IN MENTAL RETARDATION ARE CAUSED BY AN INTERRELATIONSHIP BETWEEN HEREDITY AND ENVIRONMENT. ONE OF THE MAJOR PROBLEMS CONCERNS THE LONGER LIFE EXPECTANCY OF THE RETARDATE DUE TO IMPROVEMENTS IN MODERN MEDICINE. THIS IS CREATING A SITUATION WHERE RESIDENTIAL…

  17. Our Sedation Experience on Mentally Retarded Patients

    OpenAIRE

    Metin Alkan

    2014-01-01

    Aim: The majority of dental treatments can be performed under local anesthesia. However, sedation or general anesthesia are often required for mentally retarded patients presenting a lack of cooperation. The aim of this study was to retrospectively evaluate the outcomes of mentally retarded patients treated under sedation. Material and Method: The records of the 214 mentally retarded patients that were treated under sedation between 2010-2012 were retrospectively evaluated. The retrospective ...

  18. Non-specific X linked mental retardation.

    OpenAIRE

    Kerr, B.; Turner, G; Mulley, J.; Gedeon, A; PARTINGTON, M.

    1991-01-01

    Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree. Review of published reports shows that there is clinical variability in the degree of mental retardation within families and genetic heterogeneity, based on gene localisation, between families. We propose a classification based on genetic localisation and a set of minimal clinical features that should be recorded ...

  19. Orthopaedic Problems of the Mentally Retarded

    Science.gov (United States)

    McSweeney, Anthony

    1972-01-01

    Problems encountered by orthopedic surgeons treating the mentally retarded are identified, and cooperation among pediatricians, psychiatrists, psychologists, social workers, physiotherapists, occupational therapists, and orthopedic surgeons is recommended. (GW)

  20. Orthopaedic Problems of the Mentally Retarded

    Science.gov (United States)

    McSweeney, Anthony

    1972-01-01

    Problems encountered by orthopedic surgeons treating the mentally retarded are identified, and cooperation among pediatricians, psychiatrists, psychologists, social workers, physiotherapists, occupational therapists, and orthopedic surgeons is recommended. (GW)

  1. Human Sexuality for the Mentally Retarded.

    Science.gov (United States)

    Zitzow, Darryl; And Others

    The Human Sexuality for the Mentally Retarded program sought to provide cognitive awareness of human sexuality for mentally retarded trainable residents (5 to 21 years old) as well as inservice staff training regarding attitudes and cognitive awareness changes. Cognitive awareness training focused on body parts, discrimination of the sexes,…

  2. 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.

  3. SEXUAL ABUSE OF PEOPLE WITH MENTAL RETARDATION

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    Olivera RASHICH

    2006-12-01

    Full Text Available People from the”Normal“ population don't have enough knowledge about the problems caused by mental retardation. Very often they have wrong sense and biases about mentally retarded people, considering them as people who suffer from pshychic illness. Mentally retarded people, very often are considered very different from the ”Normal“ population, but if we come closer to them we will see that there are more similarities than differences. The period in which we live today is full of challenges and fulfillments, which are frightening for people with mental retardation. It will be logical if the progress and contemporary techniques and the society go together with progress of human relationships, but, in fact, we are witnesses of lots of unhuman acts. The number of mental retarded people who have been victims of sexual abuse increases more and more everyday, and the most tragic is that they are not even aware of the situation in most cases. Persons with mental retardation in most situations become victims of this kind of unhuman acts because they don't know to say ”No“ to adults.This paper is a supplement for investigations about frequency, reasons and possibilities for prevention of sexual abuse of people with mental retardation.

  4. MR 76. Mental Retardation: Past and Present.

    Science.gov (United States)

    President's Committee on Mental Retardation, Washington, DC.

    The tenth annual report of the President's Committee on Mental Retardation reviews the history of America's services for the retarded from the 1850's to the present. Traced is governmental involvement through conferences on children and youth, and reviewed is the role of parents and volunteers in securing appropriate services. Among agencies…

  5. Operant Conditioning of Mental Retardates' Visual Monitoring.

    Science.gov (United States)

    Perryman, Roy E.; And Others

    1981-01-01

    To study improvement of visual monitoring of retardates, specialized training methods backed up by incentives were used. The extent to which these training techniques might be expected to produce results which would generalize was explored. Subjects were eight female mental retardates (ages 15-22) with IQs from 38 to 69. (Author/SJL)

  6. 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…

  7. Video Tape and the Mentally Retarded

    Science.gov (United States)

    Weisbord, H. F.

    1972-01-01

    Three uses of video tape recordings with the mentally retarded; discussed briefly are staff training or teacher education, parental involvement in the child's education, and therapeutic uses by psychiatrists and psychologists. (CB)

  8. Video Tape and the Mentally Retarded

    Science.gov (United States)

    Weisbord, H. F.

    1972-01-01

    Three uses of video tape recordings with the mentally retarded; discussed briefly are staff training or teacher education, parental involvement in the child's education, and therapeutic uses by psychiatrists and psychologists. (CB)

  9. Mental Retardation. Fact Sheet = El Retraso Mental. Hojas Informativas Sobre Discapacidades.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet on mental retardation is written in both English and Spanish. It begins with a vignette of a 15-year-old boy with mental retardation. Mental retardation is briefly explained as are some causes of mental retardation. It notes that a diagnosis of mental retardation looks at two things: first, the ability of a person's brain to learn,…

  10. A Study on Normal Siblings of Mentally Retarded Persons

    OpenAIRE

    1997-01-01

    This study examined how normal people perceive their mentally retarded siblings and what they see to be their future relationship. Normal siblings of mentally retarded persons were given a questionnaire regarding their relationships with their parents and mentally retarded siblings during childhood and how they introduced their mentally retarded siblings to their fiancees. In most cases, they had good relationships with their mentally retarded siblings during childhood. Most of them also inte...

  11. Theories of Dual Diagnosis in Mental Retardation.

    Science.gov (United States)

    Matson, Johnny L.; Sevin, Jay A.

    1994-01-01

    Provides historical review of theory development in the field of dual diagnosis, defined as co-occurrence of mental health disorders with mental retardation. Noting that current etiological theories have practical implications for treatment and prevention of dual diagnosis, discusses current status of etiological theories and future directions for…

  12. Issues in Mental Health Counseling with Persons with Mental Retardation.

    Science.gov (United States)

    Prout, H. Thompson; Strohmer, Douglas C.

    1998-01-01

    Reviews mental-health issues concerning persons with mental retardation, particularly as these issues apply to mental-health counseling. Included in this review is a discussion of the prevalence of psychopathology, types of problems presented, issues in clinical bias, access to community services, assessment techniques, and specific…

  13. CHARACTERISTICS OF THE LIGHTLY MENTALLY RETARDED PERSONS

    Directory of Open Access Journals (Sweden)

    Goran AJDINSKI

    1998-09-01

    Full Text Available Bearing in mind the fact that many scientific researches, the mental retardation are treated as a complex and specific human phenomenon, the author of this paper likes to point out three basic questions. Those are the definition of mental retardation, classification of the some of the characteristics of the mentally retarded persons.In connection with this questions practically all of the former awareness is presented and also for this aim is used a huge list of literature.Here is made a synthesis of many opinions of the eminent authors. With this presentation, concerned specialists, parents and students could be acquaintance with most important facts about the mentioned problems, which are elaborated in this paper.

  14. "Idiopathic" mental retardation and new chromosomal abnormalities.

    Science.gov (United States)

    Galasso, Cinzia; Lo-Castro, Adriana; El-Malhany, Nadia; Curatolo, Paolo

    2010-02-14

    Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition.

  15. ATTITUDE OF PARENTS TOWARDS THEIR MENTALLY RETARDED CHILDREN1

    OpenAIRE

    Rastogi, C. K.

    1981-01-01

    SUMMARY Parents of 50 mentally retarded children were investigated for their attitudes towards their retarded children. Both the parents showed more negative attitudes toward their severely retarded child. In general mothers exhibited more negative attitude than the fathers.

  16. 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)

  17. PENETRATING KERATOPLASTY IN MENTALLY RETARDED PATIENTS

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    Dušica Pahor

    2002-12-01

    Full Text Available Background. Penetrating keratoplasty (PK is rarely performed in mentally retarded patients, first of all because of numerous complications after surgery such as inflammation, self-inflicted injury, injury and because of difficult post-operative treatment. The aim of this study was to present the success of PK in this patients. In 16 years (from May 1984 to May 2000 201 PK were performed, but only three in mentally retarded patients.Methods. We present three cases of PK in mentally retarded patients. All the patients were men. They were 14, 16 and 27 year old. The indication for PK were in two cases acute keratoconus and in one case acute keratoglobus. The mean followup was 24.6 months. Trepanation was made with rotor threpin and donor material was sutured using single continuous 10-0 nylon suture.Results. In two cases keratoplasties stayed clear. Visual acuities were 0,4 and 0,5. In one patient with very aggressive behaviour graft failure developed with significant corneal vascularisation. Re-keratoplasty was not performed.Conclusions. Adequate post-operative care following PK in mentally retarded patients is the most important factor for the success of transplantation. The indication for the surgery must be made very carefully especially in self-aggressive patients in residential care.

  18. Language Transference by Mentally Retarded Spanish Speakers.

    Science.gov (United States)

    Flaherty, Carol

    In an investigation of language transference vs. language interference, 12 trainable mentally retarded Spanish speakers (5 to 9 years old) were trained to name in English objects previously identified receptively and objects not previously identified receptively in Spanish. Results indicated no significant difference in the number of words learned…

  19. Teaching Mending Skills to Mentally Retarded Adolescents.

    Science.gov (United States)

    Cronin, Kathleen A.; Cuvo, Anthony J.

    1979-01-01

    A task analysis model for analyzing and teaching community living skills to the mentally handicapped was developed and validated with five moderately retarded youths (ages 17 to 20 years) who were taught mending skills (sewing hems, buttons, and seams). (Author/DLS)

  20. Let the Mentally-Retarded Shine

    Institute of Scientific and Technical Information of China (English)

    GONG BORONG

    2007-01-01

    @@ Of all the people with disabilities, the mentallyretarded not only are the most difficult to be part of the society and to get jobs but also add to the family burdens. This has become a big headache for Shanghai, the leading industrial city of China, which has about 70,000 mentally-retarded among the 520,000 persons with disabilities.

  1. 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)

  2. Genetic and epigenetic defects in mental retardation.

    NARCIS (Netherlands)

    Kramer, J.M.; Bokhoven, H. van

    2009-01-01

    Mental retardation (MR) is a highly diverse group of cognitive disorders. The high incidence of MR, 2-3% in most populations, and the high burden for families and society makes this condition one of the major unsolved problems in modern medicine. Gene defects account for about half of all patients a

  3. MENTAL RETARDATION. CATALOG OF LIBRARY ACCESSIONS.

    Science.gov (United States)

    FEARON, ROSS E.

    LISTING ABOUT 570 ITEMS, THIS BIBLIOGRAPHY REPRESENTS THE MENTAL RETARDATION COLLECTION AT MANTOR LIBRARY, FARMINGTON STATE COLLEGE. ITEMS ARE LISTED BY DEWEY DECIMAL CLASSIFICATION NUMBER OR VERTICAL FILE NUMBER, INCLUDED ARE CURRICULUM AND TEACHER GUIDES, PROGRAM DESCRIPTIONS, PARENT HANDBOOKS, CONFERENCE PROCEEDINGS, DIRECTORIES, RESEARCH…

  4. Conjunctive Visual Search in Individuals with and without Mental Retardation

    Science.gov (United States)

    Carlin, Michael; Chrysler, Christina; Sullivan, Kate

    2007-01-01

    A comprehensive understanding of the basic visual and cognitive abilities of individuals with mental retardation is critical for understanding the basis of mental retardation and for the design of remediation programs. We assessed visual search abilities in individuals with mild mental retardation and in MA- and CA-matched comparison groups. Our…

  5. Genetics of non-syndromic autosomal recessive mental retardation.

    Science.gov (United States)

    Afroze, Bushra; Chaudhry, Bushra

    2013-01-01

    Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X-linked mental retardation and only recently studies have shown that non-syndromic autosomal recessive mental retardation is extremely heterogeneous and contributes much more than the X-linked mental retardation. But very little is known about the genes and loci involved in nonsyndromic autosomal recessive mental retardation than the X-linked mental retardation. To date only thirty loci and ten genes have been established associated with the non-syndromic autosomal recessive mental retardation. This short review presents an overview of the current knowledge on clinical information available for the ten genes associated with this unexplored group of genetic disorder.

  6. Pediatric alacrima, achalasia, and mental retardation.

    Science.gov (United States)

    Ornek, Kemal; Atilla, Huban; Zilelioğlu, Güler

    2002-08-01

    Absence or deficiency of tear volume (alacrima) is rarely seen in pediatric ophthalmology. It is often a part of the multiple systemic anomalies like Riley-Day syndrome and anhidrotic ectodermal dysplasia, or it may be associated with adrenal gland insufficiency, achalasia, and neurologic disorders like Allgrove's syndrome. We report on a 7-year-old girl presenting alacrima, achalasia, and mental retardation with normal adrenocortical function.

  7. MRI in children with mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Soto-Ares, Gustavo; Joyes, Beatrice; Pruvo, Jean-Pierre [Department of Neuroradiology, Hopital Roger Salengro, CHRU Lille, 59037 Lille (France); Lemaitre, Marie-Pierre; Vallee, Louis [Department of Paediatric Neurology, Hopital Roger Salengro, CHRU Lille, Lille (France)

    2003-05-01

    In mental retardation (MR) an aetiological diagnosis is not always obtained despite a detailed history, physical examination and metabolic or genetic investigations. In some of these patients, MRI is recommended and may identify subtle abnormal brain findings. We reviewed the cerebral MRI of children with non-specific mental retardation in an attempt to establish a neuroanatomical picture of this disorder. Thirty children with non-specific MR were selected to undergo cerebral MRI. The examination included supratentorial axial slices, mid-sagittal images and posterior fossa coronal images. Brain malformations, midline and cerebellar abnormalities were studied. In 27 of 30 patients, the neuroimaging evaluation revealed a relatively high incidence of cerebral and posterior fossa abnormalities. The most frequent were: dysplasia of the corpus callosum (46%; hypoplasia, short corpus callosum and vertical splenium), partially opened septum pellucidum and/or cavum vergae (33%), ventriculomegaly (33%), cerebral cortical dysplasia (23%), subarachnoid space enlargement (16.6%), vermian hypoplasia (33%), cerebellar and/or vermian disorganised folia (20%), and subarachnoid spaces enlargement in the posterior fossa (20%). Other anomalies were: enlarged Virchow-Robin spaces (10%), white matter anomalies (10%) and cerebellar or vermian atrophy. MRI has shown a high incidence of subtle cerebral abnormalities and unexpected minor forms of cerebellar cortical dysplasia. Even if most of these abnormalities are considered as subtle markers of brain dysgenesis, their role in the pathogenesis of mental retardation needs further investigation. (orig.)

  8. Parenting provided by adults with mental retardation.

    Science.gov (United States)

    Dowdney, L; Skuse, D

    1993-01-01

    Studies assessing the quality of parenting provided by adults with mental retardation present conflicting conclusions. Some consider the majority to be doing reasonably well, whilst others report frequently unsatisfactory caretaking. There are a number of reasons for such different views. First, inconsistent selection criteria make it hard to compare across studies. In particular, sample composition will be influenced by the recruitment source. For example, if parents have been chosen from voluntary educational programmes a rather different picture is likely to be found than if they have been selected from individuals known to, or referred by, statutory agencies. On the whole, authors working with subjects from the former source have been rather more optimistic than those working with parents referred because there were already serious concerns about parenting difficulties or about delayed child development. Secondly, the majority of studies have used poorly defined global measures of parenting, with variable criteria of what constitutes adequate care. Some have concentrated on physical care and hygiene, whilst others have looked for the presence of affection and warmth. A child's reception into care as the sole measure of the quality of parenting is an unsatisfactory criterion because parental retardation has itself occasionally been used as the basis for removal of a child into care, even in the absence of other evidence of neglect or abuse. Thirdly, methodological flaws are found in studies that have used observational assessments of parenting. Such studies have suggested mothers with mental retardation tend to lack interactive skills (such as high levels of praise and imitation, and low restrictiveness) which are known to be associated with optimal child development. Control groups have often not been matched on social and other variables which might be expected to exert a significant influence upon parenting practices. In addition, the generalisability of

  9. Community Care for People with Mental Retardation in the Netherlands.

    Science.gov (United States)

    Dosen, Anton

    1988-01-01

    Services for people with mental retardation in the Netherlands are examined, with emphasis on normalization, placement options including group homes and institutionalization, guidance for families through the Social Pedological Service, and the care of mental illness in mentally retarded persons through special diagnostic and treatment centers.…

  10. Our Sedation Experience on Mentally Retarded Patients

    Directory of Open Access Journals (Sweden)

    Metin Alkan

    2014-03-01

    Full Text Available Aim: The majority of dental treatments can be performed under local anesthesia. However, sedation or general anesthesia are often required for mentally retarded patients presenting a lack of cooperation. The aim of this study was to retrospectively evaluate the outcomes of mentally retarded patients treated under sedation. Material and Method: The records of the 214 mentally retarded patients that were treated under sedation between 2010-2012 were retrospectively evaluated. The retrospective data included demographic variables, duriation of anesthesia, anti-epileptic drugs used, level of sedation, anesthetic agents, the type of dental treatment and adverse events during and after sedation. Results: In this study the mean age of patients was 22,49±9,54. The female/male ratio was 109/105. The number of ASA I, II, III patients were 43, 157 and 14 respectively. 16.8% of the patiens (n=36 was on one anti-epileptic drug regimen, while 29.9% of the patiens (n=54 was on more than one anti-epileptic drug regimen. The sedation levels were determined as minimal sedation (6.5%, n=14, moderate sedation (35%, n=75 and deep sedation (58.4%, n=125 respectively. The midazolam-ketamine combination was the most preferred anesthetic regimen (41.1%, n=88. Single dental extraction was the most performed dental treatment (58.4%, n=125. Postoperative nausea and vomiting was encountered in 3.7% of patients (n=8. Respiratuar depression occurred in 2 patients. Two patients developed bronchospasm, while one patient developed postoperative agitation, deep bradycardia and allergic reaction respectively. Discussion: We are of the opinion that sedation can be performed safely by choosing the appropriate drug and method without depressing respiration and reflexes.

  11. Tactile function of educable mentally retarded children.

    Science.gov (United States)

    McCracken, A

    1975-08-01

    The tactile perception ability of 29 seven-and eight-year-old educable mentally retarded children was evaluated by using the tactile perception portions of the Southern California Sensory Integration Tests. The children were also observed for tactile defensive behavior. Compared to normal children of the same age (as reported in normative data), this sample of children was significantly inferior in manual form, finger identification, graphesthesia, and perception of simultaneous stimuli, but not in the localization of single stimuli. During the testing, 62 percent showed tactile defensive behavior. The role of tactile perception in the development of symbolic communications is reviewed.

  12. 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, undetectabl

  13. 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, undetectabl

  14. MENTALLY RETARDED CHILD AT PRESCHOOL AGE AND FAMILY

    Directory of Open Access Journals (Sweden)

    M. BOSKOVSKA

    1998-09-01

    Full Text Available The authors’ in their exposure likes to point the most complicated problems, which appeared when the mentally retarded child was born in a family that is followed by dramatic changes of their wishes and aspirations. In this contexts the authors elaborated many questions as well as:· relation between the parents;· mentally retarded child in the setting and living ambient;· social problems of mentally retarded children and their families;· the rule of the treats in the work with parents of mentally retarded child.

  15. Mental Retardation (MR Etiology in Children Referred to Care Services

    Directory of Open Access Journals (Sweden)

    Mahdi Foroutan

    2014-10-01

    Conclusion: Considering Mental Retardation (MR financial burden, planning to reduce and control preventable factors such as parents’ drug abuse could be possible through education and cultural changes.

  16. 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.

  17. Teaching about Older People with Mental Retardation: An Educational Model.

    Science.gov (United States)

    Kropf, Nancy P.; And Others

    1993-01-01

    The University of Georgia model curriculum to prepare students to work with mentally retarded older adults has six units: population overview, physiological issues, mental health issues, social support systems, service delivery networks, and legal/ethical issues. (SK)

  18. Kansas Citizens Plan Comprehensive Mental Retardation Services. Summary and Recommendations.

    Science.gov (United States)

    Kansas State Dept. of Social Welfare, Topeka. Div. of Institutional Management.

    Summarized are the recommendations and findings of 1 1/2-year project to prepare a plan to combat mental retardation in Kansas. The study is said to have been based on the principle that needs rather than diagnostic labels should determine services provided. Outlined are mental retardation planning activities at the federal level and preplanning…

  19. Newborn Screening To Prevent Mental Retardation. The Arc Q & A.

    Science.gov (United States)

    Arc, Arlington, TX.

    This information fact sheet on screening newborns to prevent mental retardation defines newborn screening and outlines how screening is performed. It discusses the six most common disorders resulting in mental retardation for which states most commonly screen. These include phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup…

  20. Psychopharmacology and Mental Retardation: A 10 Year Review (1990- 1999).

    Science.gov (United States)

    Matson, Johnny L.; Bamburg, Jay W.; Mayville, Erik A.; Pinkston, Jim; Bielecki, Joanne; Kuhn, David; Smalls, Yemonja; Logan, James R.

    2000-01-01

    Review of the literature on psychopharmacology and mental retardation from 1990-1999 found most studies had major methodological flaws. Also, most drug administrations were not based in science, were not evaluated appropriately, and generally did not follow best practices for treatment of persons with mental retardation. A table lists the studies…

  1. Carbamazepine-Induced Hyponatremia in Patients with Mental Retardation.

    Science.gov (United States)

    Kastner, Ted; And Others

    1992-01-01

    This study of 40 patients with mental retardation receiving carbamazepine found hyponatremia in only 5 percent of these patients and found a statistically, but not clinically, significant decrease in serum sodium levels in patients receiving anticonvulsant polytherapy. Results support the use of this drug with patients with mental retardation and…

  2. 38 CFR 4.127 - Mental retardation and personality disorders.

    Science.gov (United States)

    2010-07-01

    ... personality disorders. 4.127 Section 4.127 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS... and personality disorders. Mental retardation and personality disorders are not diseases or injuries... superimposed upon mental retardation or a personality disorder may be service-connected. (Authority: 38 U.S.C...

  3. 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…

  4. Trisomy 21: from chromosomes to mental retardation.

    Science.gov (United States)

    Roubertoux, Pierre L; Kerdelhué, Bernard

    2006-05-01

    The first descriptions of the trisomy 21 phenotype were by Jean-Etienne-Dominique Esquirol (1838), Edouard Séguin (1846) and later by John L. H. Down in 1862. It took more than a century to discover the extra-chromosomal origin of the syndrome commonly called "Down's syndrome" and which, we suggest, should be referred to as "Trisomy 21". In this review we are presenting the landmarks, from the pioneering description of the syndrome in 1838 to Jérôme Lejeune's discovery of the first genetic substrate for mental retardation. The sequencing of HSA21 was a new starting point that generated transcriptome studies, and we have noted that studies of gene over-expression have provided the impetus for discovering the HSA21 genes associated with trisomy 21 cognitive impairment.

  5. The Educational Meaning of Mental Retardation: Toward a More Helpful Construct. Mental Retardation and the Neglected Construct of Motivation.

    Science.gov (United States)

    Switzky, Harvey N.

    This paper examines the role of motivation in the way mental retardation is defined and treated. It reviews evidence that mental retardation involves a motivational self-system and a self-regulatory influence which, interacting with cognitive and metacognitive factors, result in inefficient learning. It suggests that individuals with mental…

  6. Mao Yuyan Brings New Fortune to Mentally Retarded Children

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    BEIJING Fortune Training School for Mentally Retarded Children aims at developing the abilities and independence of mentally disabled children. Located at Fourth Ring Road in Chaoyang District, northeast Beijing, the school provides good housing and firstrate teaching facilities for 60 mentally retarded children aged 3 to 10. With a staff of 18, the school finally settled here in 1996 with the assistance of the Beijing municipal government and Chaoyang District government, and funds contributed by organizations in Hong

  7. Diagnosis and treatment of mental illness in mentally retarded children: a developmental model.

    Science.gov (United States)

    Dosen, A

    1989-01-01

    Attempts have been made in recent years to discover the roots of psychiatric disorders in mentally retarded children by employing a developmental approach in which the child, not the handicap, is brought more clearly into focus. This paper provides a brief overview of the developmental model that has proven useful for the author in the psychiatric diagnosis of mentally retarded children. Application of this model to the treatment of mentally ill-mentally retarded children is also addressed.

  8. Mental Retardation: General Information. Fact Sheet Number 8 = El Retraso Mental; Informacion General. Fact Sheet Number 16.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on mental retardation is offered in both English and Spanish. First it provides the federal definition of mental retardation and discusses components of the definition. Causes of mental retardation are briefly noted, and incidence figures are provided. Typical characteristics of people with mental retardation are mentioned.…

  9. Mental Retardation: General Information. Fact Sheet Number 8 = El Retraso Mental; Informacion General. Fact Sheet Number 16.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on mental retardation is offered in both English and Spanish. First it provides the federal definition of mental retardation and discusses components of the definition. Causes of mental retardation are briefly noted, and incidence figures are provided. Typical characteristics of people with mental retardation are mentioned.…

  10. X-linked mental retardation and epigenetics.

    Science.gov (United States)

    Froyen, Guy; Bauters, Marijke; Voet, Thierry; Marynen, Peter

    2006-01-01

    The search for the genetic defects in constitutional diseases has so far been restricted to direct methods for the identification of genetic mutations in the patients' genome. Traditional methods such as karyotyping, FISH, mutation screening, positional cloning and CGH, have been complemented with newer methods including array-CGH and PCR-based approaches (MLPA, qPCR). These methods have revealed a high number of genetic or genomic aberrations that result in an altered expression or reduced functional activity of key proteins. For a significant percentage of patients with congenital disease however, the underlying cause has not been resolved strongly suggesting that yet other mechanisms could play important roles in their etiology. Alterations of the 'native' epigenetic imprint might constitute such a novel mechanism. Epigenetics, heritable changes that do not rely on the nucleotide sequence, has already been shown to play a determining role in embryonic development, X-inactivation, and cell differentiation in mammals. Recent progress in the development of techniques to study these processes on full genome scale has stimulated researchers to investigate the role of epigenetic modifications in cancer as well as in constitutional diseases. We will focus on mental impairment because of the growing evidence for the contribution of epigenetics in memory formation and cognition. Disturbance of the epigenetic profile due to direct alterations at genomic regions, or failure of the epigenetic machinery due to genetic mutations in one of its components, has been demonstrated in cognitive derangements in a number of neurological disorders now. It is therefore tempting to speculate that the cognitive deficit in a significant percentage of patients with unexplained mental retardation results from epigenetic modifications.

  11. STRESS & COPING STRATEGIES IN FAMILIES OF MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    Mukesh

    2015-06-01

    Full Text Available BACKGROUND : Families with mentally retarded children experience a great physical and psychosocial stress which demands various psychosocial strategies for effective coping. METHODOLOGY : This study was conducted in the department of Psychiatry , Government Medical College , Kota (Raj. in 2006 - 07 with the objectives of finding out the stress & coping strategies and the factors influencing these strategies in the families with mentally retarded children. Fifty mentally reta rded children were divided into two groups - Group A comprising children with IQ more or equal to 50 (n=28 and Group B comprising children having IQ less than 50 (n=22 . Parents of selected mentally retarded children were interviewed by using semi structur ed Performa containing – personnel identification data , Family Interview for Stress and Coping in Mental Retardation (FISC - MR , NIMH – Family Efficacy Scale (NIMH - FES , Problem Behavior Check List. Obtained data was analyzed by using unpaired t test , Pearson`s correlation coefficient & z - score. RESULTS : In various dimensions of perceived stress , families with mentally retarded children with IQ ˂50 (Group B experienced significantly higher daily care stress , emotional stress , social stress and total pe rceived stress than the families with mentally retarded children with IQ≥50 (Group A . Families in both groups used similar coping strategies (i.e. , awareness about mental retardation , attitude and expectation , rearing practices and social support except global support strategy which was used significantly higher by the families of children with IQ<5o. Having a female mentally retarded child and nuclear family were the factors associated with higher stress in families.

  12. Alpha thalassaemia-mental retardation, X linked

    Directory of Open Access Journals (Sweden)

    Gibbons Richard

    2006-05-01

    Full Text Available Abstract X-linked alpha thalassaemia mental retardation (ATR-X syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

  13. 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…

  14. Lessons from the Margins, Narrating Mental Retardation: A Review Essay.

    Science.gov (United States)

    Biklen, Douglas

    2000-01-01

    This essay argues that ideas circulated by Blatt and Dybwad, two scholars who exposed the plight of people labeled "retarded," can be illustrated in certain inclusive education practices and reinforced and refined in various critical narratives about mental retardation, particularly in autobiographical accounts of people with…

  15. Reality Therapy with Institutionalized Emotionally Disturbed Mentally Retarded Adolescents.

    Science.gov (United States)

    Dolly, John P.; Page, D. Patricia

    1981-01-01

    The study evaluated a reality therapy program used with 20 institutionalized mentally retarded (mild to profound) and emotionally disturbed adolescents residing in an institution. Results indicated that 17 of the Ss increased adaptive behaviors and all decreased maladaptive behaviors. (DB)

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

    African Journals Online (AJOL)

    Psychosocial Impacts of Mentally Retarded Children on Parents in Sudan. ... effects are directly related to the age, number of handicapped children in the family as well as the degree ... Keywords: Anxiety, depression, divorce, marital stability.

  17. The involvement of epigenetic defects in mental retardation.

    Science.gov (United States)

    Franklin, Tamara B; Mansuy, Isabelle M

    2011-07-01

    Mental retardation is a group of cognitive disorders with a significant worldwide prevalence rate. This high rate, together with the considerable familial and societal burden resulting from these disorders, makes it an important focus for prevention and intervention. While the diseases associated with mental retardation are diverse, a significant number are linked with disruptions in epigenetic mechanisms, mainly due to loss-of-function mutations in genes that are key components of the epigenetic machinery. Additionally, several disorders classed as imprinting syndromes are associated with mental retardation. This review will discuss the epigenetic abnormalities associated with mental retardation, and will highlight their importance for diagnosis, treatment, and prevention of these disorders. Copyright © 2011 Elsevier Inc. All rights reserved.

  18. Aerobic Dance and the Mentally Retarded--A Winning Combination.

    Science.gov (United States)

    Barton, Bonnie J.

    1982-01-01

    The results of a study on an experimental dance program for mentally retarded children show that these children can improve in physical fitness and that success through physical activities can enhance their generally poor self-concept. (JN)

  19. 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

  20. Role-taking, moral development, and mental retardation.

    Science.gov (United States)

    Perry, J E; Krebs, D

    1980-03-01

    Role-taking ability and level of moral development were measured in three groups of boys and girls including 16 moderately retarded adolescents (mean chronological age 15; mean mental age 9), 16 nonretarded adolescents matched for chronological age, and 16 nonretarded children matched for mental age. The mentally retarded adolescents scored significantly lower on role-taking ability and moral development than the adolescents matched for chronological age. They did not differ from children of their same mental age in role-taking ability; and they tended to score lower in moral development. The results supplied qualified support for Kohlberg's theory of moral development.

  1. The frequency of Toxocara infection in mental retarded children

    Directory of Open Access Journals (Sweden)

    Mustafa Kaplan

    2004-03-01

    Full Text Available Human toxocariasis is commonly seen in places where stray and Toxocara canis-infected dog population is high. There is a strong correlation between frequency of Toxocara infection, life style, and infection risk. Institutionalization of mental retarded patients increases to risk of toxocariasis. In this study, we aimed at investigating the frequency of Toxocara infection among children with mental retardation not requiring institutionalization. The study included 96 cases, who had educatable mental retardation and 85 healthy subjects who comprised the control group. Anti-Toxocara IgG or IgM antibodies were investigated in all serum samples, using ELISA method. The frequency of Toxocara infection was found significantly higher in mental retarded cases than in those in the control group (18.8% and 7.1% respectively (p 0.05. We did not find any significant difference between Toxocara seropositive and seronegative mental retarded children in terms of demographic factors and epidemiological factors that could increase the risk of Toxocara infection (p > 0.05. The present study is the first seroprevalence study carried out with a mental retarded group not requiring institutionalization. Determination of high frequency of Toxocara infection suggests that these subjects constitute a risk factor for Toxocara infection, which may be attributed to their behavioural patterns.

  2. 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.

  3. 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.)

  4. Reproductive rights of mentally retarded persons.

    Science.gov (United States)

    Katalinić, Sanja; Sendula-Jengić, Vesna; Sendula-Pavelić, Martina; Zudenigo, Slaven

    2012-03-01

    Mental retardation denotes sub-average intellectual functioning, based on IQ, i.e. the inability of normal learning, accompanied by behavioral and developmental disorders. Persons with impairments (cognitive, motor, sensory or psychiatric) have often been, both through human history and today victims of discrimination and deprived of their basic human rights, both in the public and the private life spheres. Since the end of the 20th century, throughout the developed world, many disabled persons can accomplish their dreams and rights. However, the issue of sexuality is still an obstacle in realizing oneself as a whole person, of course in accordance with personal psychophysical abilities. The greatest problem is present in persons with severe disablement, considered not apt enough for information on sexuality and for expressing themselves as persons with their own sexual needs. Thus it is desirable to observe each disabled person individually and flexibly enough in order to establish parameters for the functioning of an intimate affair on the level of understanding and assent. The legal system must protect the most vulnerable and ensure for them the right of choice and consent, as well as the possibility of fulfilling their sexual needs, so that they could love and be loved. Naturally, the system must be built on foundations that satisfy the needs of its users, but also of persons engaged in work with them. Sex education should contain information regarding biological, socio-cultural and spiritual dimensions of sexuality, including cognitive, affective and behavioral domains. Unfortunately, very few educational programs with such aims provide sex education, not only for the disabled young population but also for the healthy. This review article is based on international investigations and Croatian legislative postulates. Its aim is to focus the attention of both professionals and non-professionals on this delicate problem.

  5. Management problems of mentally retarded children and their families.

    Science.gov (United States)

    Gayton, W F

    1975-08-01

    Pediatricians faced with the difficult task of providing management services to mentally retarded children and their families are confronted with a number of difficult problems. These range all the way from deciding how to inform parents that their child is retarded to dealing with grandparents who are a source of stress. Successful handling of these problems requires a recognition that management is central to the care of the mentally retarded child. The needs of mentally retarded children and their families will not be met by interacting with families only around issues of acute physical illness. Attention must be directed toward psychosocial as well as medical variables and the emphasis must be on the total family system.

  6. Factors affecting social integration of noninstitutionalized mentally retarded adults.

    Science.gov (United States)

    Reiter, S; Levi, A M

    1980-07-01

    The social integration of noninstitutionalized moderately and mildly mentally retarded young adults was investigated. A group of moderately and mildly retarded adults (study group) was compared with a group of borderline retarded (control group) adults on employability, behavior at work, social integration and social skills, personality, and self-concept. Findings indicated that the study group was less well integrated at work and in society than was the control group and showed lack of social skills. The retarded adults who had nonretarded friends showed better social-educational skills than did the other subjects. Findings suggest that even retarded individuals who grow up in the community need help in order to become socially independent. The existence of a special social club for retarded adults was found to fulfill the functions of a sheltered framework. Participants in the club showed more positive self-concepts; however, the club did not seem to prepare them for social integration in the general community.

  7. Services and Provisions for Persons with Mental Retardation in Sweden.

    Science.gov (United States)

    Melin, Lennar

    1988-01-01

    This paper focuses on recent legislation providing special services and provisions for mentally retarded persons in Sweden. The paper describes the legislation's goal in normalizing their lives, the types of residential placements available, their educational and vocational activities, and their mental health problems. (JDD)

  8. Oral Health of Institutionalized Individuals with Mental Retardation.

    Science.gov (United States)

    Jurek, George H.; Reid, William H.

    1993-01-01

    Residents (n=702) of Texas Department of Mental Health and Mental Retardation institutions were given dental examinations, and findings were compared with data from 1,077 residents 9 years earlier. Data were analyzed for oral pathology, unmet dental needs, contribution of dental care to habilitation, and effectiveness of the dental service system.…

  9. Depressive Symptoms Displayed by Persons with Mental Retardation: A Review.

    Science.gov (United States)

    Pawlarcyzk, Douglas; Beckwith, Bill E.

    1987-01-01

    The applicability of the "Diagnostic and Statistical Manual of Mental Disorders III" diagnostic criteria for "Major Depressive Episode" within a population of persons with mild and moderate mental retardation was validated by reviewing reports of severe depression among these individuals. (Author/DB)

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

    African Journals Online (AJOL)

    J.A. Avina Fierro

    2015-06-09

    Jun 9, 2015 ... including speech delay and early motor development retarded; she rolled over at age ... alized hypotonia, clumsiness and awkward movements, global ... ular monitoring of growth and receives speech therapy, her cognitive ...

  11. 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,…

  12. Special Considerations When Providing Mental Health Services for Persons with Mental Retardation.

    Science.gov (United States)

    Schoen, Jill F.

    Unique challenges surface when providing services in community mental health centers for persons with mental retardation and mental illness. Before any type of mental health treatment for a client with this dual diagnosis can begin, proper assessment is critical. Clinicians working with this population have to adapt their treatment strategies and…

  13. Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

    Science.gov (United States)

    Farag, T I; al-Awadi, S A; el-Badramary, M H; Aref, M A; Kasrawi, B; Krishna Murthy, D S; el-Khalifa, M Y; Yadav, G; Marafie, M J; Bastaki, L

    1993-12-01

    In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

  14. [Adults with mild mental retardation and intelligence tests].

    Science.gov (United States)

    Roivainen, Eka

    2015-01-01

    One of the criteria for mild mental retardation is a total level of less than 70 IQ points measured by an intelligence test. The results of intelligence tests are approximate. There are differences in the norms of test versions, and measurement error must be taken into account in individual testing. A total level of 80 measured by adult tests utilized in Finland does not exclude the possibility of mild mental retardation, and a total level of 60 does not confirm it. The test performance should be compared with other measures, such as school and work history, practical functional capacity and previous test results.

  15. Role of microRNA pathway in mental retardation.

    Science.gov (United States)

    Qurashi, Abrar; Chang, Shuang; Peng, Jin

    2007-11-02

    Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP). MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.

  16. 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.

  17. The Role of Fragile X Mental Retardation Protein in Major Mental Disorders

    OpenAIRE

    Fatemi, S. Hossein; Folsom, Timothy D.

    2010-01-01

    Fragile X mental retardation protein (FMRP) is highly enriched in neurons and binds to approximately 4% of mRNAs in mammalian brain. Its loss is a hallmark of fragile X syndrome (FXS), the most common form of mental retardation. In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, sch...

  18. Family Problems concerning the Mentally Retarded Child

    Science.gov (United States)

    Klackenberg, Gunnar

    1969-01-01

    A mentally handicapped child causes familial pressures: concerns over future pregnancies, emotional strain, and the necessity for an ultimate decision on whether or not the child should be institutionalized. (JF)

  19. Inferential reading abilities of mildly mentally retarded and nonretarded students.

    Science.gov (United States)

    Bos, C S; Tierney, R J

    1984-07-01

    The inferential operations of mildly mentally retarded students reading at the intermediate level were investigated using methods based on discourse comprehension theory. We hypothesized that problems encountered in reading by these students are related to difficulties in generating logical inferences. Mildly retarded junior-high students and nonretarded third-grade students of the same reading comprehension level read and recalled a descriptive expository and a narrative passage. On the expository passage mildly retarded students generated the same quantity of inferences as did nonretarded students, but the inferences were qualitatively inferior. On the narrative passage the differences between the two groups were not significant. These findings were discussed in relation to the cognitive functioning of mildly retarded students.

  20. [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

  1. Japanese Studies on Attitudes towards Persons with Mental Retardation.

    Science.gov (United States)

    Tachibana, Toshiaki; Watanabe, Kanji

    2002-01-01

    Review of Japanese studies on attitudes toward persons with mental retardation first notes origins in increased support for special classes in schools. Reported findings focus on items most affecting attitude differences, gender differences, effect of contact, educational differences, and age differences. A unique sociological study in a fishery…

  2. 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…

  3. Space for the Mentally Retarded in South Dakota. Final Report.

    Science.gov (United States)

    South Dakota State Dept. of Health, Pierre. Mental Retardation Planning Office.

    The 10 priority recommendations for aiding the mentally retarded in South Dakota are presented. Summaries are provided of recommendations for federal and state legislative action and for state agencies, communities, state medical and hospital associations, and private organizations. The State and the method of planning are discussed; mental…

  4. Mental Retardation FY 1983. Special Report to Congress.

    Science.gov (United States)

    National Inst. of Child Health and Human Development (NIH), Bethesda, MD.

    The paper reviews mental retardation research activities of the National Institute of Child Health and Human Development (NICHHD) and the National Institute of Neurological and Communicative Disorders and Stroke (NINCDS). Research activities are cited to illustrate the scope of NICHHD's efforts in a variety of biomedial areas. Activities are…

  5. Molecular Genetic Approaches to Human Diseases Involving Mental Retardation.

    Science.gov (United States)

    Latt, Samuel A.; And Others

    1984-01-01

    Recombinant DNA techniques provide new approaches to the diagnosis and analysis of inherited human diseases associated with mental retardation, such as Lesch-Nyhan syndrome, phenylketonauria, the Fragile X syndrome, Down syndrome, and those associated with deletions or duplications of subchromosomal regions. (Author/CL)

  6. The Psychopathological Model of Mental Retardation: Theoretical and Therapeutic Considerations.

    Science.gov (United States)

    La Malfa, Giampaolo; Campigli, Marco; Bertelli, Marco; Mangiapane, Antonio; Cabras, Pier Luigi

    1997-01-01

    Describes a new integrated bio-psycho-social model of etiology for mental retardation. Discusses the problems with current models and the ability of the "universe line" model to integrate data from different research areas, especially cognitive and psychopathologic indicators. Addresses implications of this theoretical approach. (Author/CR)

  7. A Training Model for Peer Tutoring with Mentally Retarded Individuals.

    Science.gov (United States)

    Vacc, Nicholas

    A program in which mentally retarded persons are trained to tutor their peers is described. Considered are selection and training aspects of such a program, and emphasized is the importance of the relationship between tutor and student. Tutors are explained to learn principles of establishing specific plans and keeping basic records. (CL)

  8. Relationships between Facial Discrimination and Social Adjustment in Mental Retardation

    Science.gov (United States)

    Rojahn, Johannes; Esbensen, Anna J.; Hoch, Theodore A.

    2006-01-01

    Sixty-two adults with mental retardation of heterogeneous etiology performed four facial emotion discrimination tasks and two facial nonemotion tasks. Staff members familiar with the participants completed measures of social adjustment (the Socialization and Communication domains of the Vineland Adaptive Behavior Scales and the Social Performance…

  9. Maturational Rate of Tokyo Children with and without Mental Retardation.

    Science.gov (United States)

    Lindgren, Gunilla W.; Katoda, Hiroshi

    1993-01-01

    Comparison of growth rates and menarcheal age for groups of boys and girls, ages 6 to 15, in Tokyo (Japan) found that children with mental retardation had a smaller growth spurt during puberty but did not differ in maturational rate defined by age at pubertal height spurt or age at menarche. (Author/DB)

  10. Quantitative Assessments of Sensitivity to Reinforcement Contingencies in Mental Retardation.

    Science.gov (United States)

    Dube, William V.; McIlvane, William J.

    2002-01-01

    Sensitivity to reinforcement contingencies was examined in six individuals with mental retardation using a concurrent operants procedure in the context of a computer game. Results included individual differences in sensitivity and differential sensitivity to rate and magnitude variation. Results suggest that comprehensive assessments of potential…

  11. Drug Abuse in Persons with Mental Retardation: A Review.

    Science.gov (United States)

    Christian, LeeAnn; Poling, Alan

    1997-01-01

    Review of the literature on drug abuse by people with mental retardation addresses prevalence, drug-related problems, special vulnerabilities of this population, treatment programs, and status of drug abuse prevention and drug education for this population. A lack of and need for controlled research dealing with the genesis, treatment, and…

  12. Individuals with Mental Retardation from the Perspective of Turkish People

    Science.gov (United States)

    Güner Yildiz, Nevin

    2015-01-01

    This descriptive study examined the attitude of Turkish people towards the mentally retarded. The working group was composed of 329 male and female staff in various places of employment in Eskisehir provincial center, 87 non-working women living in Eskisehir provincial center and 49 non-working women living in Mugla provincial center. Research…

  13. Sexual Health and Behavior of Mentally Retarded Pupils in Japan

    Science.gov (United States)

    Tsutsumi, Angela Aparecida

    2009-01-01

    Sex education has always been a controversial topic. Although sex education at schools has improved in general, sex education for mentally retarded pupils still encounters prejudice and conservatism as a result of several misconceptions about the subject. This research was performed in the form of a survey of opinions about sex education in…

  14. Functional Assessment of Problem Behaviors in Adults with Mental Retardation

    Science.gov (United States)

    Paclawskyj, Theodosia R.; Kurtz, Patricia F.; O'Connor, Julia T.

    2004-01-01

    Functional assessment has significantly improved the success of behavioral treatment of problem behaviors in adults with mental retardation. Functional assessment methods (i.e., techniques that yield a hypothesis of functional relationships) include direct observation, interviews, and checklists. Functional analysis consists of empirical methods…

  15. OCCUPATIONAL INFORMATION FOR THE MENTALLY RETARDED, SELECTED READINGS.

    Science.gov (United States)

    STAHLECKER, LOTAR V., ED.

    INTENDED AS A REFERENCE TOOL FOR PROFESSIONAL PERSONS, THIS COMPILATION CONTAINS 78 ARTICLES SELECTED FOR THEIR PERTINENCE TO OCCUPATIONAL EDUCATION FOR MENTALLY RETARDED YOUTH AND ADULTS. THE ARTICLES ARE GROUPED INTO SIX MAJOR AREAS. ON GUIDANCE, 22 ARTICLES COVER THE TRANSITION FROM HIGH SCHOOL TO WORK, COUNSELING, EVALUATION OF WORK POTENTIAL,…

  16. IQ and the Death Penalty: Verifying Mental Retardation.

    Science.gov (United States)

    Keyes, Denis William

    Whether or not subjects can simulate mental retardation, a consideration that has implications in criminal cases, was studied using 21 adult Caucasian males between 20 and 30 years of age, largely comprised of students and staff employees of the University of New Mexico. Subjects were asked to give genuine and simulated responses to two major test…

  17. RING CHROMOSOME 13 SYNDROME IN AN ADULT MALE WITH MILD MENTAL RETARDATION

    OpenAIRE

    Matsuishi, Takesi; Millar, Anne; Yamaguchi, Tetsuaki; Endo, Keiko

    1997-01-01

    A case of ring 13 syndrome in an 18-year-old male is presented with particular focus on mental retardation. The clinical picture was characterized by mild mental retardation, microcephaly, large low set ears, a broad nasal bridge, epicanthus, micrognathia and short philtrum. A review of the literature with a focus on mental retardation concluded that descriptions of mental retardation were often unqualified and at times ambiguous. Furthermore, in contrast to the characteristic description of ...

  18. Health-related Physical Fitness in Children with Mental Retardation

    Directory of Open Access Journals (Sweden)

    Fazel Bazyar

    2014-12-01

    Full Text Available Human health is highly dependent on the condition of health-related physical fitness and particularly body composition. Adolescence is unique in this regard, especially when the adolescents are mentally retarded, about whom information on physical fitness is limited. Thus, the objective of this paper was to study the components of health-related physical fitness with emphasis on body composition and weight gain and loss in mentally retarded students of Roodbar. Statistical sample included 91 mentally retarded male students with mean age of 13.44±1.56, mean height of 167±6.97, and mean IQ of 68.7±7.8. Physical fitness components were assessed using modified Brockport Physical Fitness Test (BPFT including cardiovascular endurance, muscular strength, muscular endurance, flexibility, and body composition (by calculation of body mass index. The results indicated that in terms of body mass index, 40% of participants were underweight, 10% were overweight, and 10% were obese. In addition, body fat percentage was high in 11.9% of subjects and very high in 13% of them. The mean aerobic power of mentally retarded boys aged 12-14 was measured 31.5% (ml/kg/min, indicating 25% and 35% lower physical fitness, respectively, compared to their normal peers and the reference values. The present study revealed that a significant proportion of mentally retarded adolescents in Roodbar are suffering from either underweight or overweight. Moreover, their physical fitness in all components is not desirable compared to their normal peers.

  19. X chromosome inactivation and X-linked mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Willard, H.F. [Case Western Reserve Univ. School of Medicine, Cleveland, OH (United States)]|[Univ. Hospitals of Cleveland, OH (United States)

    1996-07-12

    The expression of X-linked genes in females heterozygous for X-linked defects can be modulated by epigenetic control mechanisms that constitute the X chromosome inactivation pathway. At least four different effects have been found to influence, in females, the phenotypic expression of genes responsible for X-linked mental retardation (XLMR). First, non-random X inactivation, due either to stochastic or genetic factors, can result in tissues in which one cell type (for example, that in which the X chromosome carrying a mutant XLMR gene is active) dominates, instead of the normal mosaic cell population expected as a result of random X inactivation. Second, skewed inactivation of the normal X in individuals carrying a deletion of part of the X chromosome has been documented in a number of mentally retarded females. Third, functional disomy of X-linked genes that are expressed inappropriately due to the absence of X inactivation has been found in mentally retarded females with structurally abnormal X chromosomes that do not contain the X inactivation center. And fourth, dose-dependent overexpression of X-linked genes that normally {open_quotes}escape{close_quotes} X inactivation may account for the mental and developmental delay associated with increasing numbers of otherwise inactive X chromosomes in individuals with X chromosome aneuploidy. 53 refs., 1 fig.

  20. STRUCTURE OF BODY DEFORMATIES AMONG PERSONS WITH MENTAL RETARDATION

    Directory of Open Access Journals (Sweden)

    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

  1. Cardiac surgery for adults with mental retardation. Dilemmas in management.

    Science.gov (United States)

    Goldhaber, S Z; Reardon, F E; Goulart, D T; Rubin, I L

    1985-10-01

    In summary, cardiac surgery for adults with mental retardation raises a series of controversial legal, economic, ethical, medical, and nursing dilemmas. During the past 20 years, many improvements have taken place in the care of these patients. However, in the future, judicial and statutory mandates requiring high-quality medical care for persons with mental retardation may conflict increasingly with hospital cost-control legislation and thereby affect clinical decisions. For example, it is conceivable that elective repair of an ostium secundum atrial septal defect in an asymptomatic patient will expend the limited resources necessary to carry out emergency revascularization in a symptomatic patient with impending myocardial infarction. This issue becomes even more delicate when the asymptomatic patient is a mentally retarded ward of the state, and the symptomatic patient is a middle-aged man supporting a wife and several college-age children. There may be no easy solution to this problem, and it will provide the grist for many bioethicists. Fortunately, from a practical point of view, we do not currently have to choose between these patients to receive treatment. Our hope is that health care for mentally retarded patients will not be compromised. We believe that decisions about patient management should be based on enlightened clinical judgment rather than on preconceived notions about this population. In the quest for optimal health care delivery, the special needs of these patients should be considered when cardiac catheterization and possible cardiac surgery are contemplated. Although we have presented an approach to a patient with cardiac disease requiring cardiac surgery, we believe that this approach can be utilized for any retarded patient requiring acute medical care. Currently, because there has not been much training in this area, many physicians and nurses lack first-hand experience in caring for the mentally retarded. This inexperience may lead to

  2. Teaching Mental Abacus Calculation to Students with Mental Retardation

    Science.gov (United States)

    Shen, Hong

    2006-01-01

    The abacus is a calculating tool that has been used in Asia for thousands of years. Mental abacus calculation is a skill in which an abacus image in the mind is used without the actual physical manipulation of the abacus. Using this method, people can perform extremely rapid and accurate mental calculations. Research indicates that abacus training…

  3. An Analysis of Australian Mental Health Services for People with Mental Retardation.

    Science.gov (United States)

    Parmenter, Trevor R.

    1988-01-01

    This review of mental health service provision to people with mental retardation in Australia addresses: role of public and private agencies, adequacy of services, lack of trained medical personnel, overemphasis on diagnosis, separation of diagnosis from treatment, lack of coordination among departments, inadequate services for moderately and…

  4. Mental Health in Spanish-Speaking Mentally Retarded People: The State of the Art.

    Science.gov (United States)

    Sacristan, Jaime Rodriguez

    1988-01-01

    This paper describes diagnostic methods, treatment approaches, cultural factors, service delivery systems, and governmental roles important in the consideration of the status of mentally retarded people with mental health problems in four Spanish-speaking populations: Chile, Mexico, Spain, and Hispanic groups in the U.S. (JDD)

  5. Carotenemia in mentally retarded children I. Incidence and etiology

    Science.gov (United States)

    Patel, H.; Dunn, H. G.; Tischler, B.; McBurney, A. Karaa

    1973-01-01

    The incidence and etiology of carotenemia in mentally retarded children were examined. Fasting serum carotenoid and vitamin A levels were measured in 77 profoundly mentally retarded children aged 3 to 19 years who were receiving a standard diet containing 2000 IU of carotene (expressed in terms of vitamin A activity) and supplemented by 2000 IU of vitamin A daily. Seventeen of the 77 patients had serum carotenoid levels of more than 300 μg./ml. The particulate size of food had a significant inverse relationship to serum carotenoid levels and was an important factor in determining carotenemia. The serum vitamin A level was also higher in children on homogenized diet than in those on pureed feeds, while the lowest level was noted among patients on a chopped diet. Besides particulate size of food, other factors may also be operative in determining carotenemia. PMID:4707231

  6. A STUDY ON CNV OF PATIENTS WITH MENTAL RETARDATION

    Institute of Scientific and Technical Information of China (English)

    CHEN Xingshi

    2002-01-01

    Objective: To investigate the variations of contingent negative variation (CNV) of petients with mental retardation. Methods: The CNV was recorded in 16 children with mental retardation (MR) and 14 healthly age-matched controls. And CNV retest was carried out in 11 children with MR after one yeat treatment of Piracetam. Results: Compared with the normal control, the CNV of MR group showed prolonged postimperative negative variation (PINV) duration (P<0.01) and total A-C duration (P < 0.01), decreased amplitude B (P<0.01 ), and reduced preimperative A-S2 area (P<0.01). A comparison of the CNV of MR group was made between before and after one year treatment of Piracetam and no significant difference was found. Conclusions:The significant CNV variations were found in children with MR and these abnormal changes presisted throughout the Piracetam treatment.

  7. Fetishistic transvestism in a patient with mental retardation and psychosis

    Directory of Open Access Journals (Sweden)

    Rajmohan Velayudhan

    2014-01-01

    Full Text Available 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.

  8. Health-promoting physical activity of adults with mental retardation.

    Science.gov (United States)

    Stanish, Heidi I; Temple, Viviene A; Frey, Georgia C

    2006-01-01

    This literature review describes the physical activity behavior of adults with mental retardation consistent with the U.S. Surgeon General's recommendation of 30 minutes of moderate intensity physical activity on 5 or more days per week. The proportion of participants achieving this criterion ranges from 17.5 to 33%. These data are likely to be generous estimates of activity as individuals included in physical activity studies to date have been relatively young and healthy volunteers with mild to moderate limitations. Major sources of physical activity were walking and cycling for transport, chores and work, dancing, and Special Olympics. There is a pressing need to conduct studies using appropriately powered representative samples and to validate measures that assess physical activity less directly; including methodologies in which proxy respondents are used. Accurate information about existing patterns of behavior will enhance the development of effective strategies to promote physical activity among persons with mental retardation.

  9. Recurrent cholecystitis in an elderly mentally retarded patient with pica.

    Science.gov (United States)

    Miyakawa, Koichi; Ito, Masanobu; Hatta, Kotaro; Eto, Ko; Arai, Heii

    2011-12-01

    The case of a 64-year-old patient with pica and severe mental retardation who was admitted to our hospital for treatment of recurrent cholecystitis is reported. Abdominal ultrasound showed sludge in the gallbladder, but no stones. Abdominal CT revealed a foreign body in the duodenum resembling a suction cup of the type commonly used in kitchens and bathrooms. The object could not be removed because it was deeply embedded in the hypertrophic intestinal mucosa. A nasogastric tube was inserted for feeding, since the object impeded the passage of solid foods. The patient's fever and abdominal pain subsequently resolved, and laboratory data improved. The indwelling feeding tube prevented recurrence of cholecystitis. Since pica is common not only in patients with mental retardation but also in dementia patients, the present case may also relate to the treatment of acute abdominal conditions in dementia patients.

  10. Non syndromic gingival fibromatosis in a mild mental retardation child

    Directory of Open Access Journals (Sweden)

    Mahesh K Duddu

    2012-01-01

    Full Text Available Gingival fibromatosis is a benign oral condition characterized by enlargement of gingival tissues. It usually develops as an isolated disorder but can be one of the features of a syndrome. This case report is of a 5-year-old male with severe gingival hyperplasia and mild mental retardation which was complicated by open bite, abnormal occlusion, open lip posture, and disabilities associated with mastication and speech. Full mouth gingivectomy in single sitting under general anesthesia was done with electrocautery.

  11. Psychopathology in Children and Adolescents with ASD without Mental Retardation

    Science.gov (United States)

    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…

  12. Psychopathology in Children and Adolescents with ASD without Mental Retardation

    Science.gov (United States)

    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…

  13. 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.

  14. Approach to Mental Retardation and Global Developmental Delay

    Directory of Open Access Journals (Sweden)

    Mahmoud Reza ASHRAFI

    2011-04-01

    Full Text Available ObjectiveMental Retardation (MR or Intellectual Disability is one of three chronic and disabling neurological disorders of children and adolescents. Its prevalence is estimated 1-3% of the population. MR is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. MR may come into view before 5 years as delay in at least two developmental domains which is called Global Developmental Delay (GDD.The causes of mental retardation can be considered under the titles of prenatal, perinatal and postnatal factors. Prenatal causes account for approximately 60 -80 % of the etiological factors. All patients with GDD / MR should undergo a stepwise diagnostic approach, because a specific diagnosis leads to opportunity for treatment, future planning and genetic counseling. History, physical examination and neurodevelopmental examinations are the most important parts of the approach. Recent advances in cytogenetic investigations and neuroimaging studies have led to recognition of new disorders and improvement of the diagnostic yield.Keywords: Mental retardation ; global developmental delay; diagnostic yield.

  15. Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Grosso, Salvatore; Mostardini, Rosa; Di Bartolo, Rosanna Maria; Balestri, Paolo; Verrotti, Alberto

    2011-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epilepsy, may be observed in patients carrying large 4q35 deletions resulting in fragment sizes less than 12 kilobases (kb) (normal >35 kb). We report on a family affected by FSHD carrying a small 4q35 deletion and residual fragments length of 17 kb, presenting with epilepsy (three patients), speech delay (two), and mental retardation (one). In all patients semeiology of seizures and interictal EEG anomalies were congruent with a localization-related epilepsy possibly involving the temporal lobe. In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  16. Prevalence of mental retardation among children in RS Pura town of Jammu and Kashmir

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    Sunil Kumar Raina

    2012-01-01

    Full Text Available Objective: To determine the Prevalence of mental retardation in children 3 to 10 years of age. Materials and Methods: The study was conducted in the framework of a population based, single centre, cross-sectional study at R.S.Pura town, 22 kms south- west of Jammu city. Results: A total of 61 (0.79 percent of the 7,707 children surveyed had positive screening results on the Ten Questions instrument. 56 (0.72percent children were diagnosed as suffering from mental retardation. Serious mental retardation was diagnosed in 48 children and mild mental retardation was diagnosed in 8 children. The combined prevalence estimates of mild and serious mental retardation were 7.2/1000. No notable sex differences were observed for either serious or mild retardation. Interpretation: The prevalence rates of mental retardation among children less than 19 years of age in R. S. town compares favorably with studies from developed world.

  17. The role of fragile X mental retardation protein in major mental disorders.

    Science.gov (United States)

    Fatemi, S Hossein; Folsom, Timothy D

    2011-06-01

    Fragile X mental retardation protein (FMRP) is highly enriched in neurons and binds to approximately 4% of mRNAs in mammalian brain. Its loss is a hallmark of fragile X syndrome (FXS), the most common form of mental retardation. In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, schizophrenia, bipolar disorder, and major depressive disorder), and potential therapies to ameliorate the loss of FMRP. This article is part of a Special Issue entitled 'Trends in neuropharmacology: in memory of Erminio Costa'. Copyright © 2010 Elsevier Ltd. All rights reserved.

  18. A Note on Left-Handedness and Severity of Mental Retardation

    Science.gov (United States)

    Hicks, Robert E.; Barton, A. Keith

    1975-01-01

    This paper presents data supplementing previous reports of elevated incidence of left handedness for the mentally retarded. The new data confirm a positive relationship between degree of retardation and incidence of left-handedness. (GO)

  19. Two subtelomeric chromosomal deletions in forty-six children with idiopathic mental retardation

    Institute of Scientific and Technical Information of China (English)

    李荣; 赵正言

    2004-01-01

    @@ Mental retardation (MR) affects approximately 3% of the population. In infancy and early childhood, mental retardation often presents as developmental delay. Unexplained MR is responsible for more than half of all cases.1,2 There is some evidence that subtle chromosomal rearrangements involved in subtelomeric regions (gene-rich regions), resulting in segmental aneuploidy and gene-dosage imbalance, are significant unrecognized causes of idiopathic mental retardation (IMR).3-10

  20. Chromosomal abnormalities associated with mental retardation in female subjects

    Directory of Open Access Journals (Sweden)

    Dutta Samikshan

    2009-01-01

    Full Text Available Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR. However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150 by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120, chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025.

  1. [Schooling of patients exhibiting Autism Spectrum Disorders without mental retardation].

    Science.gov (United States)

    Grimm, D; Assouline, B; Piero, A

    2015-12-01

    Autism Spectrum Disorders belong to Pervasive Development Disorders. Although access to education is recommended by the French National High Authority for Health (HAS), the practice remains limited and the reasons for the low education rate of these children have still not been sufficiently explored in the literature. The main objective of this study was to analyze the links between Autism Spectrum Disorder without mental retardation, psychiatric comorbidity and education. The secondary objective was to analyze the cognitive and contextual factors that could limit educational inclusion. Eighty-three autistic patients (3-18years old; 73 males and 10 females) with childhood autism, atypical autism or Asperger's syndrome (criteria from the International Classification of Diseases-10) without mental retardation and in education were assessed at the Alpine Centre for Early Diagnosis of Autism. The sample included 45 subjects with childhood autism, 12 subjects with atypical autism and 26 subjects with Asperger's syndrome. The diagnosis was based on the Autism Diagnostic Interview Revised (ADI-R), in accordance with the recommendations of the HAS, the Autism Diagnostic Observation Schedule (ADOS) and the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV). Our results showed that childhood autism and atypical autism were mainly found in nursery and primary school, whereas Asperger's syndrome was mainly found in secondary school (Chi(2)=18.23; df=6; PWISC-IV also differed: the Verbal Comprehension Index (VCI) and Working Memory Index (WMI) were higher for Asperger's syndrome than for childhood autism and atypical autism (respectively, F=23.11, PWISC-IV, along a continuum that ranges from childhood autism (more needs and deficits) to atypical autism to Asperger's syndrome. The Verbal Comprehension Index (VCI) and the Processing Speed Index (PSI) could be used to evaluate the number of hours of support needed by children and to better target the deficits and

  2. 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.

  3. Chromosomal abnormalities associated with mental retardation in female subjects.

    Science.gov (United States)

    Dutta, Samikshan; Shaw, Jyothi; Sinha, Swagata; Mukhopadhyay, Kanchan

    2009-01-01

    Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150) by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120), chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025).

  4. Appropriate classification of obesity of mentally retarded adults.

    Science.gov (United States)

    Fox, R; Burkhart, J E; Rotatori, A F

    1983-07-01

    Triceps skinfold thickness and body weight measures were obtained for 44 female and 40 male mentally retarded adults participating in a sheltered workshop setting. Subjects' relative weights and skinfold thicknesses were found to correlate reasonably well for females and males, rs = .88 and .59, respectively. Use of only height and weight tables for determining the presence of obesity, however, resulted in 22.5 percent of the males and 13.7 percent of the females being misclassified as nonobese. The distinction between overweight and obesity was discussed. Clinical/research implications of the findings were delineated.

  5. 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.

  6. Mental Health Systems for People with Mental Retardation: A Canadian Perspective.

    Science.gov (United States)

    Zarfas, Donald E.

    1988-01-01

    A survey was made of provincial ministries and voluntary associations in nine Canadian provinces and two territories, to assess service provision to mentally retarded citizens with emotional problems. The survey focused on government agencies' involvement in service delivery, settings for short- and long-term care, quality of services available,…

  7. 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.

  8. Increased Lead and Cadmium Burdens among Mentally Retarded Children and Children with Borderline Intelligence.

    Science.gov (United States)

    Marlowe, Mike; And Others

    1983-01-01

    The relationship between subtoxic metal levels and mild mental retardation and borderline intelligence was investigated through comparison of hair metal concentrations in 135 secondary students with mild retardation or borderline intelligence. Children in the retarded/borderline group had significantly higher lead and cadmium concentrations.…

  9. Mental retardation after prenatal exposure. Re-analysis indicated

    Energy Technology Data Exchange (ETDEWEB)

    Paile, W. [Finnish Centre for Radiation and Nuclear Safety (STUK), Helsinki (Finland). Radiation and Nuclear Safety Authority

    2000-05-01

    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

  10. Awareness among Family Members Having Children with Mental Retardation on Relevant Legislations in India

    Science.gov (United States)

    Kuppusamy, Balabaskar; Narayan, Jayanthi; Nair, Deepa

    2012-01-01

    In India, Acts and legislations are in place for persons with mental retardation. Three major Acts namely Rehabilitation Council of India Act (1992), Persons with Disabilities (Equal opportunities, protection of rights and full participation) Act (1995) and National Trust for welfare of persons with Autism, Cerebral Palsy, Mental retardation and…

  11. The Croydon Assessment of Learning Study: Prevalence and Educational Identification of Mild Mental Retardation

    Science.gov (United States)

    Simonoff, Emily; Pickles, Andrew; Chadwick, Oliver; Gringras, Paul; Wood, Nicky; Higgins, Siobhan; Maney, Julie-Ann; Karia, Nisha; Iqbal, Huma; Moore, Anne

    2006-01-01

    Background: Mild mental retardation is an enduring and impairing condition. Its prevalence has varied widely across different studies from 0.5 to over 8%, with higher rates in completely ascertained samples. The current study estimates the prevalence of low IQ in the mental retardation range (intellectual disability) in a population sample and…

  12. Views about Planning for the Future among Parents and Siblings of Adults with Mental Retardation.

    Science.gov (United States)

    Griffiths, Diane Lynn; Unger, Donald G.

    1994-01-01

    Forty-one pairs of parents and siblings of adult family members with mental retardation completed questionnaires concerning future planning. Although almost one-half of siblings were willing to assume caregiving responsibilities in future, parents were reluctant to have them take on caregiving. Cognitive demands of mentally retarded members and…

  13. Prevalence of Intestinal Parasite Infections among Individuals with Mental Retardation in New York State.

    Science.gov (United States)

    Schupf, Nicole; And Others

    1995-01-01

    Prevalence of intestinal parasite infection among program participants of the New York State Office of Mental Retardation and Developmental Disabilities for 1986-87 was estimated at 7.3%, suggesting that management of parasitic infection is improving. Males and individuals with severe/profound mental retardation were twice as likely to have…

  14. 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…

  15. Rating Problem Behaviors in Outpatients with Mental Retardation: Use of the Aberrant Behavior Checklist.

    Science.gov (United States)

    Freund, Lisa S.; Reiss, Allan L.

    1991-01-01

    Parent and teacher ratings on the Aberrant Behavior Checklist with an outpatient sample of 110 children, adolescents, and young adults with mental retardation found that the 5-factor structure of both parent and teacher data corresponded very well with the 5 factors originally obtained from staff ratings of mentally retarded inpatients. (Author/DB)

  16. Detection of Metabolic Disorders among Selectively Screened People with Idiopathic Mental Retardation.

    Science.gov (United States)

    Kurtz, Michael B.; And Others

    1994-01-01

    Fifty-eight people (ages 2 to 66) receiving residential or other services for idiopathic mental retardation were evaluated for evidence of metabolic disease. Five (8%) demonstrated symptoms pointing to specific genetic metabolic defects, suggesting the need for evaluation of other similar populations with idiopathic mental retardation. (Author/DB)

  17. Kansas Plan: For Program Planning and Development in Education for the Mentally Retarded.

    Science.gov (United States)

    Thorsell, Marguerite; And Others

    The manual of administrative guidelines outlining program organization for the education of the mentally retarded in Kansas presents standards of program organization and operation and plans for implementing specified services for the various levels of mental retardation. Part 1 of the manual, detailing program organization, covers program…

  18. Preparing Teachers of Pupils with Mental Retardation: Changes in Course Offerings from 1970-1990.

    Science.gov (United States)

    Brusca, Rita M.; Montemurro, Theodore J.

    1994-01-01

    Comparison of typical courses of study from 1970 to 1990 for students preparing to be teachers of pupils with mental retardation found little change in percentage of programs offering a special course on mental retardation; increased percentage of programs offering cross-categorical courses; and decreased percentage of programs requiring joint…

  19. A Cross-Sectional Test of the Similar-Trajectory Hypothesis among Adults with Mental Retardation

    Science.gov (United States)

    Facon, Bruno

    2008-01-01

    The similar-sequence and the similar-structure hypotheses are the two mainstays of the developmental approach to mental retardation. In the present study, a third way, the similar-trajectory hypothesis, is described and illustrated using the WAIS-R results of adults with and without mental retardation aged from 20 to 54 years. The whole sample (N…

  20. Guidelines from the Consumer: Improving Consumer Involvement in Research and Training for Persons with Mental Retardation.

    Science.gov (United States)

    Heller, Tamar; And Others

    1996-01-01

    Interviews with 22 adults with mental retardation suggest that, although they and other individuals with mental retardation have participated in various roles in research and training, there are many barriers to meaningful consumer involvement (such as professional jargon) and there is a need to bring out individuals' strengths and capabilities.…

  1. Psychopathology and Mental Retardation: An Italian Epidemiological Study Using the PIMRA.

    Science.gov (United States)

    La Malfa, Giampaolo; Notarelli, Antonella; Hardoy, Maria Carolina; Bertelli, Marco; Cabras, Pier Luigi

    1997-01-01

    The incidence of psychopathology was studied in 176 Italian adults with mental retardation. Prevalence of answers relating to anxiety, tendency to live apart, and body complaints in individuals with mild mental retardation was documented. For people with severe intellectual impairments, mood disturbance with inconsistent behaviors was more…

  2. Facial Emotion Recognition by Persons with Mental Retardation: A Review of the Experimental Literature.

    Science.gov (United States)

    Rojahn, Johannes; And Others

    1995-01-01

    This literature review discusses 21 studies on facial emotion recognition by persons with mental retardation in terms of methodological characteristics, stimulus material, salient variables and their relation to recognition tasks, and emotion recognition deficits in mental retardation. A table provides comparative data on all 21 studies. (DB)

  3. Mental Retardation and the Law: A Report on Status of Current Court Cases.

    Science.gov (United States)

    Friedman, Paul; Beck, Ronna Lee

    Included in the report are summaries of four new cases and updated information on 38 cases regarding legal issues in mental retardation. Featured is a review of cases dealing with liability of judges and lawyers in violating the rights of mentally retarded persons. Other issues addressed (with sample court case in parentheses) include commitment…

  4. X-linked mental retardation: further lumping, splitting and emerging phenotypes.

    NARCIS (Netherlands)

    Kleefstra, T.; Hamel, B.C.J.

    2005-01-01

    X-linked mental retardation (XLMR) is a very heterogeneous condition, subdivided in two categories mainly based on clinical features: syndromic XLMR (MRXS) and non-syndromic XLMR (MRX). Although it was thought that 20-25% of mental retardation (MR) in males was caused by monogenetic X-linked

  5. Transport of fragile X mental retardation protein via granules in neurites of PC12 cells

    NARCIS (Netherlands)

    Y. de Diego Otero (Yolanda); E.A.W.F.M. Severijnen (Lies-Anne); W.A. van Cappellen (Gert); M. Schrier (Mariëtte); R. Willemsen (Rob); B.A. Oostra (Ben)

    2002-01-01

    textabstractLack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common form of inherited mental retardation. FMRP is an RNA binding protein thought to be involved in translation efficiency and/or trafficking of certain mRNAs. Recently, a subset of mRNAs

  6. Preparing Teachers of Pupils with Mental Retardation: Changes in Course Offerings from 1970-1990.

    Science.gov (United States)

    Brusca, Rita M.; Montemurro, Theodore J.

    1994-01-01

    Comparison of typical courses of study from 1970 to 1990 for students preparing to be teachers of pupils with mental retardation found little change in percentage of programs offering a special course on mental retardation; increased percentage of programs offering cross-categorical courses; and decreased percentage of programs requiring joint…

  7. Ex-Post-Facto Analysis of Competitive Employment Outcomes for Individuals with Mental Retardation: National Perspective

    Science.gov (United States)

    Moore, Corey L.; Harley, Debra A.; Gamble, David

    2004-01-01

    Disparities in proportions of competitive job placements and provision of vocational rehabilitation services by level of mental retardation were identified for 28,565 individuals. Chi-square results reveal that consumers with mild mental retardation are significantly more likely to achieve competitive jobs compared to those with more severe…

  8. Dyskinetic Movement Disorder among Adults with Mental Retardation: Phenomenology and Co-occurrence with Stereotypy.

    Science.gov (United States)

    Bodfish, James W.; And Others

    1996-01-01

    The occurrence of dyskinetic movement disorder and its co-occurrence with stereotypic behavior among adults with mental retardation were studied in 98 adults with mental retardation. Results indicated that stereotypic movement disorder was associated with increased dyskinesia scores and that dyskinesia and stereotypy may be related by common…

  9. 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…

  10. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previou...

  11. Effects of Age, Gender, and Causality on Perceptions of Persons with Mental Retardation

    Science.gov (United States)

    Panek, Paul E.; Jungers, Melissa K.

    2008-01-01

    The present study examined the effects of age, gender, and causality on the perceptions of persons with mental retardation. Participants rated individuals with mental retardation using a semantic differential scale with three factors: activity, evaluation, and potency. Target individuals in each scenario varied on the variables of age (8, 20, 45),…

  12. A Review of the Literature of a Dual Diagnosis: Mental Retardation and Behavioral Disorders.

    Science.gov (United States)

    Cooley, Sandra M.

    1997-01-01

    Presents a synthesis of the literature findings on the dual diagnosis of mental retardation and behavior disorders. Topics covered include: (1) behavior management techniques; (2) drug treatment; (3) family perspectives; (4) education; (5) behavioral treatment; and (6) behavior disorders and mental retardation as mild disabilities. (Author/CR)

  13. A Community-Based Accommodation Program for Adults with Autism and Mental Retardation

    Science.gov (United States)

    Fox, Robert A.; Holtz, Casey A.; Moist, Amie M.

    2009-01-01

    There is a paucity of treatment literature for significant and intractable behavior problems in adults with autism and mental retardation. Four adults with autism, severe to profound mental retardation, and serious, long-term behavior problems participated in an accommodation training program as an adjunct to more traditional behavioral and…

  14. The effectiveness of adapted web pages on the learning performance of students with severe mental retardation.

    Science.gov (United States)

    Li, Tien-Yu; Chen, Ming-Chung; Lin, Yun-Lung; Li, Shu-Chun

    2003-09-01

    Learning to use computers and/or using computers to learn has become a part of everyday life for most students. Unfortunately, students with mental retardation in Taiwan, especially those with moderate or severe mental retardation, are often not considered capable of utilizing computers and online learning. It is common for students with moderate or severe mental retardation to have poor vocabulary, or even be illiterate. Web pages mostly displayed in text form have therefore become the major obstacle for students with mental retardation when they try to learn online. This research focused on students with severe mental retardation by integrating picture communication symbols, voices and animation into a teaching home page, and then examined its effectiveness on learning.

  15. Following in the Footsteps of Ford: Mental Retardation and Capital Punishment Post-Atkins

    Directory of Open Access Journals (Sweden)

    Cynthia A. Orpen

    2003-04-01

    Full Text Available Since the United States Supreme Court held the capital sentence of mentally retarded John Paul Penry to be constitutional in Penry v. Lynaugh, the relationship between capital punishment, mental retardation and the Eighth Amendment has been widely debated. In a long awaited opinion, the Court finally held that the Eighth Amendment categorically prohibits the execution of the mentally retarded. In Atkins v. Virginia, the Court overruled its holding in Penry, and recognized that capital sentences imposed on the mentally retarded constitute cruel and unusual punishment in violation of the Eighth Amendment. Although this appears to be a victory for the mentally retarded and their advocates, the real effect of the decision will depend largely on how the states apply the Atkins holding.

  16. Characteristics of epilepsy in severely mentally retarded individuals.

    Science.gov (United States)

    Amano, K; Takamatsu, J; Ogata, A; Miyazaki, C; Kaneyama, H; Katsuragi, S; Deshimaru, M; Sumiyoshi, S; Miyakawa, T

    2000-02-01

    In order to clarify the characteristics of epilepsy in patients with severe mentally retarded (SMR) subjects, we analyzed 52 SMR subjects with epilepsy from the institute for SMR subjects at Kikuchi National Hospital, Kumamoto, Japan. A total of 61.5% patients had uncontrolled seizures which were resistant to treatment. The most common combinations of seizure types in those not responding to conventional anticonvulsants were generalized tonic-clonic seizures (GTCS) with tonic seizure and GTCS with atypical absence. Their clinical features were characterized by spastic paralysis associated with a slower background electroencephalogram and abnormal computed tomography scans of the head, suggesting the involvement of cortical damage. These findings suggest that a large proportion of epilepsy in SMR subjects does not respond to treatment and that the severity of organic brain damage may therefore affect the natural course of epilepsy in such patients.

  17. Bilateral progressive visual loss in an epileptic, mentally retarded boy

    Directory of Open Access Journals (Sweden)

    Silvana Guerriero

    2011-01-01

    Full Text Available Leber′s hereditary optic neuropathy (LHON is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON ′plus.′ In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.

  18. Assessing personality traits of individuals with mental retardation.

    Science.gov (United States)

    Zigler, Edward; Bennett-Gates, Dianne; Hodapp, Robert; Henrich, Christopher C

    2002-05-01

    Psychometric properties for a new instrument, the EZ-Personality Questionnaire designed to assess the functioning of students with cultural-familial mental retardation, are presented. The analysis of data from 661 participants yielded a 37-item, seven-scale instrument that confirmed the five hypothesized factors of Positive Reaction Tendency, Negative Reaction Tendency, Effectance Motivation, Expectancy of Success, and Outerdirectedness and identified two additional factors of Curiosity/Creativity and Obedience. Separate studies were conducted to establish the concurrent and construct validity of the instrument. Reliability was examined through split-half and test-retest analyses. All psychometric indices were within acceptable levels, resulting in an instrument with potential applications in research, education, and clinical settings.

  19. Primary function analysis of human mental retardation related gene CRBN.

    Science.gov (United States)

    Xin, Wang; Xiaohua, Ni; Peilin, Chen; Xin, Chen; Yaqiong, Sun; Qihan, Wu

    2008-06-01

    The mutation of human cereblon gene (CRBN) is revealed to be related with mild mental retardation. Since the molecular characteristics of CRBN have not been well presented, we investigated the general properties of CRBN. We analyzed its gene structure and protein homologues. The CRBN protein might belong to a family of adenosine triphosphate (ATP)-dependent Lon protease. We also found that CRBN was widely expressed in different tissues, and the expression level in testis is significantly higher than other tissues. This may suggested it could play some important roles in several other tissues besides brain. Transient transfection experiment in AD 293 cell lines suggested that both CRBN and CRBN mutant (nucleotide position 1,274(C > T)) are located in the whole cells. This may suggest new functions of CRBN in cell nucleolus besides its mitochondria protease activity in cytoplasm.

  20. 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.

  1. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

    NARCIS (Netherlands)

    Koolen, D.A.; Nillesen, W.M.; Versteeg, M.H.; Merkx, G.F.M.; Knoers, N.V.A.M.; Kets, M.; Vermeer, S.; Ravenswaaij-Arts, C.M.A. van; Kovel, C.G.F. de; Brunner, H.G.; Smeets, D.F.C.M.; Vries, L.B.A. de; Sistermans, E.A.

    2004-01-01

    BACKGROUND: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. OBJECTIVE: To screen for

  2. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

    NARCIS (Netherlands)

    Koolen, D.A.; Nillesen, W.M.; Versteeg, M.H.; Merkx, G.F.M.; Knoers, N.V.A.M.; Kets, M.; Vermeer, S.; Ravenswaaij-Arts, C.M.A. van; Kovel, C.G.F. de; Brunner, H.G.; Smeets, D.F.C.M.; Vries, L.B.A. de; Sistermans, E.A.

    2004-01-01

    BACKGROUND: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. OBJECTIVE: To screen for submicroscopi

  3. Alzheimer neuropathology in non-Down's syndrome mentally retarded adults.

    Science.gov (United States)

    Popovitch, E R; Wisniewski, H M; Barcikowska, M; Silverman, W; Bancher, C; Sersen, E; Wen, G Y

    1990-01-01

    We examined the brains of 385 mentally retarded adults aged 23-90 years without Down's syndrome (DS), metabolic disorder, or hydrocephalus to extend our knowledge about the occurrence of Alzheimer-type neuropathology in this population. Relevant measures of neuropathology also were related to selected information available from clinical records. The presence of one or more neurofibrillary tangles (NFT) and/or neuritic plaques (NP) was observed in 63.4% of all cases and varied with age. The prevalence of positive cases was higher when mental retardation was due to head trauma, congenital malformation, or familial factors and when a history of seizures was reported. Comprehensive morphometric analyses of neocortical, hippocampal and parahippocampal areas indicated that recommended age-specific quantitative criteria for the diagnosis of Alzheimer disease [Khachaturian ZS (1985) Arch Neurol 42:1097-1105] were met in 9.5% of cases less than 50 years of age, 54.2% between 50 and 65, 70% between 66 and 75, and 87% of the cases greater than 75 years of age. However, a limited immunohistochemical study revealed that in most cases the NP did not have a neuritic component containing paired helical filaments and in this respect most of the plaques observed in this population may differ from those most strongly associated with Alzheimer disease. In addition, substantial numbers of NFT were seen in frontal cortex, contrasting with results reported in the literature for nonretarded populations. The number of NP per mm2 consistently increased with age for all areas examined, while the relationship between NFT density and age varied across areas, and was clearly not monotonic.(ABSTRACT TRUNCATED AT 250 WORDS)

  4. [Social representations and living conditions of the mentally ill and mentally retarded elderly in nursing homes.].

    Science.gov (United States)

    Dorvil, H; Benoit, M

    1999-01-01

    The aging of the population in Québec as in the rest of the western world, brings to the fore people who until now were greatly marginalized. This is the case of mentally ill and mentally retarded elderly who until recently, lived their aging in the shadow of psychiatric institutions. Have these people now found with deinstitutionalization, the possibility of growing old within society ? This article analyses the conditions of integration and support networks, in sum a collective responsability of these aging people in nursing homes.

  5. 42 CFR 483.136 - Evaluating whether an individual with mental retardation requires specialized services (PASARR/MR).

    Science.gov (United States)

    2010-10-01

    ... the minimum data needs and process requirements for the State mental retardation authority to determine whether or not the applicant or resident with mental retardation, as defined in § 483.102(b)(3) of... on the data compiled in paragraph (b) of this section, the State mental retardation authority, using...

  6. Physical activity of adults with mental retardation: review and research needs.

    Science.gov (United States)

    Temple, Viviene A; Frey, Georgia C; Stanish, Heidi I

    2006-01-01

    To characterize physical activity levels of adults with mental retardation and identify limitations in published research. Key word searches for "mental retardation," "intellectual disability," "learning disability," or "developmental disability" combined with "physical activity" or "habitual exercise" identified articles from MEDLINE, Academic Search Elite, Psych Articles, Health Source, and SPORT Discus. This produced a total of 801 citations. Published English-language literature that quantitatively measured physical activity levels of adults with mental retardation was included in this review. Fourteen articles met this criterion. Characteristics of participants, study design, outcome measures, methods of analyses, and findings in terms of percentages, step counts, and accelerometer output were extracted. Data were synthesized to identify the percentage of adults with mental retardation who met published health-related physical activity criteria and compare them with adults without mental retardation and to examine study limitations. The studies with the greatest rigor indicate that one-third of adults or fewer with mental retardation were sufficiently active to achieve health benefits. However, data are insufficient to determine whether adults with mental retardation are less active than the general community. Future research would be enhanced by including appropriately powered representative samples, by including comparison groups, by validating physical activity questionnaires, and by determining the accuracy of proxy respondents.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. [Progress on X-linked mental retardation related gene JARID1C].

    Science.gov (United States)

    Lei, Xu; Gao, Xiao-Cai; Zhang, Fu-Chang

    2010-03-01

    JARID1C is one of the genes related to X-linked mental retardation. Its express product influences transcription and expression of the related genes in brain nervous system, and may be associated with human cognitive ability. Study on the functions of JARID1C not only helps to understand its molecular role in mental retardation and human cognitive ability, but also provides references for clinical diagnosis and prevention of mental retardation. This article reviews the progresses on JARID1C in location, isolation, physiological functions, and cognitive functions of its encoding product. The future re-search work of JARID1C is also discussed.

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

    Directory of Open Access Journals (Sweden)

    Fatma Saban

    2013-01-01

    Full Text Available Background: 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. Materials and Methods: 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. Results: 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 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 < 0.05. Conclusion: Although the average score of trait anxiety and 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.

  10. Association of AHSG with alopecia and mental retardation (APMR) syndrome.

    Science.gov (United States)

    Reza Sailani, M; Jahanbani, Fereshteh; Nasiri, Jafar; Behnam, Mahdiyeh; Salehi, Mansoor; Sedghi, Maryam; Hoseinzadeh, Majid; Takahashi, Shinichi; Zia, Amin; Gruber, Joshua; Lynch, Janet Linnea; Lam, Daniel; Winkelmann, Juliane; Amirkiai, Semira; Pang, Baoxu; Rego, Shannon; Mazroui, Safoura; Bernstein, Jonathan A; Snyder, Michael P

    2017-03-01

    Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members. Our study revealed a novel predicted pathogenic, homozygous missense mutation in the AHSG (OMIM 138680) gene (AHSG: NM_001622:exon7:c.950G>A:p.Arg317His). The variant is predicted to affect a region of the protein required for protein processing and disrupts a phosphorylation motif. In addition, the altered protein migrates with an aberrant size relative to healthy individuals. Consistent with the phenotype, AHSG maps within APMR linkage region 1 (APMR 1) as reported before, and falls within runs of homozygosity (ROH). Previous families with APMR syndrome have been studied through linkage analyses and the linkage resolution did not allow pointing out to a single gene candidate. Our study is the first report to identify a homozygous missense mutation for APMR syndrome through whole-exome sequencing.

  11. Fragile-X mental retardation: molecular diagnosis in Argentine patients.

    Science.gov (United States)

    Florencia, Giliberto; Irene, Szijan; Veronica, Ferreiro

    2006-11-30

    Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.

  12. Seroepidemiological Survey of Toxoplasma Infections of Mentally Retarded Children

    Directory of Open Access Journals (Sweden)

    MJ Gharavi

    2005-06-01

    Full Text Available Toxoplasmosis is a widespread infection in the world. Although the infection by Toxoplasma gondii is widely prevalent in humans and animals, the disease is uncommon and most of the acquired infections are asymptomatic. The important aspect of this parasitic infection is the probable danger of congenital transmission and its severe effects on the fetus. In the present descriptive study, a total of 353 samples from mentally retarded children and adolescents in rehabilitation centers in Tehran, were examined from 2001 to 2002. In order to determine the Toxoplasma antibodies, the samples were tested using an IFA technique and in some cases ELISA technique was applied as well. Fourteen percent of the examined samples were positive. In this research Toxoplasma antibody titer in 36 cases were reported as 1:100 and it was found to be 1:200, 1:400 and 1:800 in 9,1 and 3 cases, respectively. In three cases for which the titer was reported 1:800, samples were tested applying Ig-M ELISA technique in order to determine if there was an acute infection but all tests were negative. In the current study, we did not find any significant differences in the prevalence rate between the genders, but the prevalence significantly increases with age. We used standard questionnaires for causative relation in congenital toxoplasmosis within sero-positive children and 3 cases of infection were documented during the mother's pregnancy period.

  13. Sensory impairment in mental retardation: a potential role for NGF.

    Science.gov (United States)

    Battaglia, Anna

    2011-06-01

    Sensory impairment is defined as the inability to interpret outside stimuli such as visual, auditory, verbal, sense of touch, taste or smell or feelings of pain. This leads to absence of sensation and neuronal coordination. The impairment may be caused by ageing and other physiological changes, accident or injuries or can be found in some cases of mental retardation (MR) also referred to as intellectual disability. Known cases of MR involving inability to accurately interpret an outside source or stimuli are: Fragile-X syndrome; Tuberous sclerosis complex (TSC) with associated autism spectrum disorder (ASD); Rett syndrome; Autism and ASD with or without MR; Chromosome 22q13.3 deletion syndrome; familial dysautonomia, Prader-Willi's syndrome, Williams syndrome. In this review we will discuss in particular form of ASD and altered sensory sensitivity. The role of NGF in causing pronociceptive activity and its role in peripheral sensitisation is discussed under the light of its involvement in forms of MR where loss of pain perception is a main feature due to mutations to NGF receptors or NGF genes during development. Other forms of MR with altered sensory impairment will be considered as well as additional potential mechanisms involved.

  14. Familial mental retardation: a review and practical classification.

    Science.gov (United States)

    Maris, Angelica Francesca; Barbato, Ingrid Tremel; Trott, Alexis; Montano, Marco Aurélio Echart

    2013-06-01

    Mental retardation (MR) is a definition which comprises a series of conditions whose common feature is an intellectual handicap that develops before the age of 18, afflicting 2-3% of the world's population. The classification of MR into different categories is determined by the extent of the handicap instead of its cause, which often remains unrecognized. Sometimes, MR runs in a family, characterizing familial MR, and those cases permit an in-depth look into the genetic causes and consequences of the problem. However, almost no work is available on the prevalence of familial MR among the registered MR cases, possibly because familial MR is a term with no clear definition. The scope of this work is to review the topic and discuss the implications of different genetic and environmental factors, which characterize particular categories of familial cases, suggesting a practical classification of familial MR, which is important for epidemiologic studies and also for counseling in the clinic. Some of the aspects are discussed under the perspective of a newly-developed country like Brazil.

  15. These Are Not Children; A Play About Opportunities for the Mentally Retarded.

    Science.gov (United States)

    Alden, Jerome; Johnesse, Adaline

    The play, which involves a mentally retarded youth, his parents, and a rehabilitation counselor, gives dramatic emphasis to the youth's problems in adjusting to the outside world and to the adjustment problems of the parents. The character of Joey is used to demonstrate that the retarded can be helped to lead useful and productive lives and to…

  16. Decreasing Self-Stimulating Behaviors with the Profoundly Mentally Retarded, While Acknowledging Obstacles and Frustrations.

    Science.gov (United States)

    Smith, Susan J.; Solimani, Genevieve

    Two studies examined different treatment procedures to suppress self-stimulating behaviors with the profoundly mentally retarded. In experiment 1, a fine mist of cold water from a spray bottle was applied to the neck of a teenaged student in a class for the profoundly retarded. The intervention was very successful in reducing inappropriate humming…

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

    Science.gov (United States)

    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)

  18. A Report of Two Cases of Morquio's Syndrome Associated with Mental Retardation.

    Science.gov (United States)

    Kumar, Y. Vikram; And Others

    1979-01-01

    The paper details the case studies of two siblings, a boy aged 7 and a girl aged 5 1/2, who suffer from Morquio's Syndrome (a disease characterized by cartilagenous and bony abnormalities) as well as mental retardation. (PHR)

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

    Science.gov (United States)

    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)

  20. Teaching Academic Skills to Trainable Mentally Retarded Children: A Study in Tautology.

    Science.gov (United States)

    Burton, Thomas A.; Hirshoren, Alfred

    1979-01-01

    The efficacy of teaching higher level cognitive skills to the trainable mentally retarded is questioned as research has yet to show that the skills learned can be generalized by this population to the classroom or other settings. (Author/PHR)

  1. 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...

  2. 2 SISTERS WITH MENTAL-RETARDATION, CATARACT, ATAXIA, PROGRESSIVE HEARING-LOSS, AND POLYNEUROPATHY

    NARCIS (Netherlands)

    BEGEER, JH; SCHOLTE, FA; VANESSEN, AJ

    1991-01-01

    Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differentia

  3. 2 SISTERS WITH MENTAL-RETARDATION, CATARACT, ATAXIA, PROGRESSIVE HEARING-LOSS, AND POLYNEUROPATHY

    NARCIS (Netherlands)

    BEGEER, JH; SCHOLTE, FA; VANESSEN, AJ

    1991-01-01

    Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The

  4. 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

    1999-01-01

    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 abnormali

  5. The microRNA pathway and fragile X mental retardation protein.

    Science.gov (United States)

    Li, Yujing; Lin, Li; Jin, Peng

    2008-11-01

    Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP). MicroRNAs (miRNAs), a newly discovered class of small noncoding RNAs, have been implicated in multiple biological processes through posttranscriptional gene regulation. Recent evidence supports this view in terms of the biochemical and genetic interaction found between FMRP and the miRNA pathway, providing deeper insight into the molecular pathogenesis of mental retardation. This review briefly summarizes the progress towards an understanding of the role miRNAs play in neurological disorders, with a focus on the mechanism of interaction between FMRP and the miRNA pathway in the context of fragile X syndrome. In addition, we go on to discuss how the miRNA pathway may be involved in mental retardation.

  6. 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.

  7. UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

    NARCIS (Netherlands)

    SCHOLTE, FA; BEGEER, JH; VANESSEN, AJ

    A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

  8. Outdated Language: Use of "Mental Retardation" in Medicaid HCBS Waivers Post-Rosa's Law.

    Science.gov (United States)

    Friedman, Carli

    2016-10-01

    Rosa's Law, which changed references of "mental retardation" to "intellectual disability" within federal legislation, marked recognition by the federal government that the term "mental retardation" is outdated and pejorative. However, Rosa's Law did not apply to many notable federal programs related to disability, such as Medicaid. This article explores if and how the term "mental retardation" was used within Medicaid Home and Community Based Services 1915(c) waivers, as they are the most prevalent provider of long-term services and supports for people with intellectual and developmental disabilities. Waivers provide some of the most advanced community services and the language used in them should reflect this. Although an overwhelming majority of waivers used "mental retardation," we found that the term was used less for later benchmark dates.

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

    Science.gov (United States)

    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)

  10. [Habilitation of Mentally Retarded Persons: Wyatt vs. Hardin and Related Cases--Collected Comments.

    Science.gov (United States)

    Mental Retardation, 1981

    1981-01-01

    Four articles address the 1978 Wyatt v. Hardin proceedings which debated the issues of the training/habilitation potential of institutionalized mentally retarded persons and the feasibility of placing these persons in community-based living facilities. (SB)

  11. 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.

  12. The MicroRNA Pathway and Fragile X Mental Retardation Protein

    OpenAIRE

    Li, Yujing; Lin, Li; Jin, Peng

    2008-01-01

    Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP). MicroRNAs (miRNAs), a newly discovered class of small noncoding RNAs, have been implicated in multiple biological processes through posttranscriptional gene regulation. Recent evidence supports this view in terms of the biochemical and genetic interaction found between FMRP and the miRNA pathway, providing deeper insight into the mo...

  13. 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.

  14. Drosophila Fragile X Mental Retardation Protein Developmentally Regulates Activity-Dependent Axon Pruning

    OpenAIRE

    Tessier, Charles R.; Broadie, Kendal

    2008-01-01

    Fragile X Syndrome (FraX) is a broad-spectrum neurological disorder with symptoms ranging from hyperexcitability to mental retardation and autism. Loss of the fragile X mental retardation 1 (fmr1) gene product, the mRNA-binding translational regulator FMRP, causes structural over-elaboration of dendritic and axonal processes as well as functional alterations in synaptic plasticity at maturity. It is unclear, however, whether FraX is primarily a disease of development, a disease of plasticity ...

  15. Temporal Requirements of the Fragile X Mental Retardation Protein in Modulating Circadian Clock Circuit Synaptic Architecture

    OpenAIRE

    Gatto, Cheryl L.; Broadie, Kendal

    2009-01-01

    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 conser...

  16. Cardiac transplantation in adult patients with mental retardation: do outcomes support consensus guidelines?

    Science.gov (United States)

    Samelson-Jones, Emma; Mancini, Donna M; Shapiro, Peter A

    2012-01-01

    Selection criteria guidelines list mental retardation as a relative contraindication to heart transplantation, but not to kidney transplantation. The authors present a case series of adults with mental retardation or comparable acquired intellectual disability who underwent heart transplantation. They discuss the literature on heart and kidney transplantation in people with mental retardation and the ethical reasoning that guides how recipients of solid organ grafts are chosen. Literature review and retrospective review of long-term outcomes for five adult patients with mental retardation or comparable disability who received heart transplants. Among these cases, survival times to date ranged from 4 to 16 years, with a median survival of greater than 12 years. Medical non-adherence was a significant factor in only 1 of the 5 cases. In that case, the patient's medical non-adherence was due to a functional decline in the primary caretaker. People with mental retardation can receive long-term benefit from heart transplantation when they have the cognitive and social support necessary to ensure adherence to post-transplant regimens. There is no ethical or medical reason for guidelines to consider mental retardation, in and of itself, a contraindication to heart transplantation. The totality of the individual patient's circumstances should be considered in assessing transplant candidacy. Published by Elsevier Inc.

  17. Comparison of psychopathology in the mothers of autistic and mentally retarded children.

    Science.gov (United States)

    Firat, Sunay; Diler, Rasim Somer; Avci, Ayse; Seydaoglu, Gulsah

    2002-10-01

    The aim of this study was to evaluate anxiety, depression, alexithymia, and general psychological symptoms in the mothers of autistic children in comparison with those in the mothers of mentally retarded children. Forty mothers of autistic children and 38 mothers of mentally retarded children were included in the study. After a clinical interview, psychometric tests were performed for depression, anxiety, alexithymia, and Symptom Distress Check List (SCL-90) for general psychological symptoms. Non-depression rates was 27.5% in the mothers of autistic children whereas the rate was 55.3% in the mothers of mentally retarded children. There was no difference regarding anxiety and alexithymia between the two groups. The psychopathology in the mothers of autistic children was more frequent than in those of mentally retarded children in all sub-scales of SCL-90 (somatization obsessive-compulsive, interpersonal sensitivity, depression, anxiety, anger-hostility, phobic anxiety, paranoid thought, psychotism, and extra scale). The mothers of autistic children experienced more psychological distress than those of mentally retarded children. Our findings indicates that the assessment of autistic and mentally retarded children should include psychological assessment of their mothers.

  18. 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…

  19. Attitudes of Community-Living Staff Members toward Persons with Mental Retardation, Mental Illness, and Dual Diagnosis.

    Science.gov (United States)

    Henry, David; And Others

    1996-01-01

    Attitudes of 340 staff members in 120 community living programs for people with mental retardation, mental illness, and dual diagnosis were assessed using the Community Living Attitudes Scale, a measure of attitudes toward inclusion. Findings identified attitudinal differences toward inclusion between managers and staff and between those working…

  20. TRAINING OF PARENTS OF MENTALLY RETARDED CHILDREN FOR THEIR PARTICIPATION IN THE TREATMENT

    Directory of Open Access Journals (Sweden)

    Jordan JOVEV

    1997-03-01

    Full Text Available Working in the way of "a collective as a doctor" in which the personnel, the mentally retarded persons and their parents live together during their weekend meetings, 3-7 days, in a calm and warm atmosphere, it was possible to find out a great number of neuropsychiatric diseases, imitating mental retardation, while their intelligence was normal. The importance of the early detection of the syndrome of pseudo-retardation is in the use of adequate therapy and of course far better prognosis for a great number of patients.Though this form of work, it is possible to educate the parents of the mentally retarded persons, so that they can easier recognize their children's symptoms and take part in their further therapy.The author's opinion is that the adequate recognizing of these syndromes may reduce the number of wrong diagnosed and categorized persons and make their prognosis better.

  1. Unrealized Potential: Differing Employment Outcomes for Individuals with Mental Retardation and Other Disability Groups.

    Science.gov (United States)

    Fesko, Sheila Lynch; Temelini, David; Graham, Audrey

    This brief discusses outcomes of a study that investigated the employment and job search practices used with individuals with mental retardation to those used with individuals with mental illness, sensory impairments, and physical impairments. Survey participants included 568 employment staff and 303 individuals with disabilities from community…

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

    Science.gov (United States)

    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)

  3. 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 mental

  4. Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine.

    Science.gov (United States)

    Coppa, G V; Gabrielli, O; Zampini, L; Maccari, F; Mantovani, V; Galeazzi, T; Santoro, L; Padella, L; Marchesiello, R L; Galeotti, F; Volpi, N

    2015-12-01

    Mucopolysaccharidoses (MPS) are characterized by mental retardation constantly present in the severe forms of Hurler (MPS I), Hunter (MPS II) and Sanfilippo (MPS III) diseases. On the contrary, mental retardation is absent in Morquio (MPS IV) and Maroteaux-Lamy (MPS VI) diseases and absent or only minimal in the attenuated forms of MPS I, II and III. Considering that MPS patients affected by mental disease accumulate heparan sulfate (HS) due to specific enzymatic defects, we hypothesized a possible correlation between urinary HS-derived glucosamine (GlcN) accumulated in tissues and excreted in biological fluids and mental retardation. 83 healthy subjects were found to excrete HS in the form of fragments due to the activity of catabolic enzymes that are absent or impaired in MPS patients. On the contrary, urinary HS in 44 patients was observed to be composed of high molecular weight polymer and fragments of various lengths depending on MPS types. On this basis we correlated mental retardation with GlcN belonging to high and low molecular weight HS. We demonstrate a positive relationship between the accumulation of high molecular weight HS and mental retardation in MPS severe compared to attenuated forms. This is also supported by the consideration that accumulation of other GAGs different from HS, as in MPS IV and MPS VI, and low molecular weight HS fragments do not impact on central nervous system disease.

  5. Inspection time as mental speed in mildly mentally retarded adults: analysis of eye gaze, eye movement, and orientation.

    Science.gov (United States)

    Nettelbeck, T; Robson, L; Walwyn, T; Downing, A; Jones, N

    1986-07-01

    The effect of eye movements away from a target on accuracy of visual discrimination was examined. In Experiment I inspection time was measured for 10 mildly mentally retarded and 10 nonretarded adults under two conditions, with each trial initiated by the subject or under experimental control. Retarded subjects did not gain any advantage from controlling trial onset. Video records of eye movements revealed that retarded subjects glanced off-target more than did nonretarded controls, but this was not sufficient to explain appreciably slower inspection time of the retarded group. Experiment 2 supported this conclusion; the same subjects completed a letter-discrimination task with direction of gaze monitored automatically. Although retarded subjects' eye gaze was more scattered early during a trial, gaze was appropriately directed by the time that the target appeared. Results from both experiments supported the hypothesis that speed of central, perceptual processing is slower among retarded persons, over and above the influence of distractibility. Results from three experiments in Part II were consistent with this interpretation. Experiment 3 was designed to eradicate trials among retarded subjects in which gaze was not properly directed, but results showed that too few such events occurred to influence accuracy. Experiment 4 demonstrated that the preparatory procedure in the previous studies resulted in efficient eye gaze among retarded subjects. Experiment 5 confirmed that lower discriminative accuracy among 10 retarded adults (compared with 10 nonretarded controls) was not due to less-efficient orientation prior to discrimination.

  6. X-linked mental retardation: focus on synaptic function and plasticity.

    Science.gov (United States)

    Humeau, Yann; Gambino, Frédéric; Chelly, Jamel; Vitale, Nicolas

    2009-04-01

    Among mental disorders, mental retardation has been shown to be caused by various factors including a large array of genetic mutations. On the basis of remarkable progress, the emerging view is that defects in the regulation of synaptic activity and morphogenesis of dendritic spines are apparently common features associated with mutations in several genes implicated in mental retardation. In this review, we will discuss X-linked MR-related gene products that are potentially involved in the normal structure and function of the synapses, with a particular focus on pre- and/or post-synaptic plasticity mechanisms. Progress in understanding the underlying conditions leading to mental retardation will undoubtedly be gained from a closer collaboration of geneticists, physiologists and cognitive neuroscientists, which should enable the establishment of standardized approaches.

  7. 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...

  8. [Long-term dental interventions in mentally retarded children under general anesthesia with sevoflurane].

    Science.gov (United States)

    Sitkin, S I; Gasparian, A L; Ivanova, T Iu; Nesterova, E Iu; Drozdova, N I

    2015-01-01

    Dental procedures in mentally retarded children is challenging for both dentist and for anesthesiologist. The aim of the study was to evaluate the efficacy and safety of dental care procedures under general anesthesia with sevoflurane by means of laryngeal mask in mentally retarded children. The randomized controlled study included 65 mentally retarded children with ASA 2-3 who underwent dental treatment. All patients had multiple caries. The children were divided into two groups. The first group included 35 children with normal body weigh while the second one - 30 obese children. All patients received a rapid induction with sevoflurane with the subsequent installation of the laryngeal mask. In the second group the signs of hypoventilation recorded an average of 10 ± 4 minutes after induction of anesthesia, which was manifested in increasing Pсо₂greater than 50 mm Hg. In the first group, the signs of hypoventilation marked an average of 18 ± 3.5 minutes from the start of induction of anesthesia. All patients were transferred to the artificial lung ventilation through the LMA. By dental treatment under general anesthesia with sevoflurane and laryngeal mask all mentally retarded children had respiratory depression with increased levels of carbon dioxide greater than 50 mmHg, but obese children developed these signs of hypoventilation twice as fast. Conducting long dental treatment in mentally retarded children require artificial lung ventilation.

  9. Association of an X-chromosome dodecamer insertional variant allele with mental retardation.

    Science.gov (United States)

    Philibert, R A; King, B H; Winfield, S; Cook, E H; Lee, Y H; Stubblefield, B; Damschroder-Williams, P; Dea, C; Palotie, A; Tengstrom, C; Martin, B M; Ginns, E I

    1998-07-01

    Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic cosmid inserts containing large trinucleotide repeats. One of these cosmids, Cos-4, maps to the X-chromosome and contains the sequence of a 7.3-kb mRNA. Initial polymorphism analysis across a region of repetitive DNA in this gene revealed a rare 12-bp exonic variation (< 1% in non-iII males) having an increased prevalence in non-Fragile X males with mental retardation (4%, P < 0.04, n = 81). This variant was not present in the highly conserved mouse homologue that has 100% amino acid identity to the human sequence near the polymorphism. Subsequent screening of two additional independent cohorts of non-Fragile X mentally retarded patients and ethnically matched controls demonstrated an even higher prevalence of the 12-bp variant in males with mental retardation (8%, P < 0.0003, n = 125, and 14%, P < 0.10, n = 36) vs the controls. Multivariate analysis was conducted in an effort to identify other phenotypic components in affected individuals, and the findings suggested an increased incidence of histories of hypothyroidism (P < 0.001) and treatment with antidepressants (P < 0.001). We conclude that the presence of this 12-bp variant confers significant susceptibility for mental retardation.

  10. 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.

  11. Mental retardation due to chromosomal translocation in an Iranian consanguineous family: report of three cases

    Directory of Open Access Journals (Sweden)

    Soudeh Ghafouri-Fard

    2017-02-01

    Full Text Available Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded children. These abnormalities are caused because chromosomes participated in the reciprocal translocations produce quadrivalents at meiosis. These quadrivalents segregate and lead to several different meiotic outcomes, just two of which are normal or balanced. Case Presentation: A consanguineous family with three mentally retarded daughters at the ages of 24, 18 and 10 years was referred to Comprehensive Medical Genetics Centre, Shiraz, Iran in 2015. Family history showed a case of unexplained infant death as well as a spontaneous abortion. Three survived siblings had hypotonia and severe developmental delay during infantile period. In addition, they suffer from primary amenorrhea. Two siblings have vesicoureteral reflux (VUR. Cytogenetic analysis of two patients showed 46,XX,t(6;12(q23;q22,der(9t(8;9(q24;p24 with partial monosomy of chromosome 9 and partial trisomy of 8q24 segment, while the other patient had 46,XX,der(12t(6;12(q23;q22 with partial monosomy of 12q22qter and partial trisomy of 6q23qter segment. Their mother had two balanced chromosomal translocations (46, XX, t(6,12(q21;q22, t(8,9(q24;p24. Conclusion: The above presented case is another example for the rare occurrence of double balanced chromosomal translocations in a phenotypically normal person. Although the most important causes of mental retardation in consanguineous marriages are autosomal recessive disorders, the role of chromosomal aberrations in mental retardation in these families must not be neglected. In other words, cytogenetic studies should be performed as a first line test in

  12. Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.

    Science.gov (United States)

    Nishimura, G; Harigaya, A; Kuwashima, M; Kuwashima, S

    1997-07-11

    The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.

  13. Importance of perceived similarity in improving children's attitudes toward mentally retarded peers.

    Science.gov (United States)

    Siperstein, G N; Chatillon, A C

    1982-03-01

    Effects of perceived similarity on fifth- and sixth-grade children's attitudes toward mentally retarded peers were examined. Children were selected from schools that contained segregated classes of retarded pupils (exposed setting) and schools that had no retarded pupils enrolled (nonexposed). Attitudes were defined in terms of children's affective feelings and behavioral intentions. Results showed that children responded more positively toward a retarded target who was depicted as similar to them than toward one who was not. Unexpectedly, the positive effects of perceived similarity were observed only among children in the exposed schools. Also, girls were more positive toward a female target than boys were to a male target, regardless of whether the target was perceived as similar. The importance of developing strategies based on theories of interpersonal attraction to improve children's attitudes toward their retarded peers was discussed.

  14. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-07-01

    Full Text Available Abstract The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead, tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.

  15. Predicting Adaptive Functioning of Mentally Retarded Persons in Community Settings.

    Science.gov (United States)

    Hull, John T.; Thompson, Joy C.

    1980-01-01

    The impact of a variety of individual, residential, and community variables on adaptive functioning of 369 retarded persons (18 to 73 years old) was examined using a multiple regression analysis. Individual characteristics (especially IQ) accounted for 21 percent of the variance, while environmental variables, primarily those related to…

  16. An Annotated Bibliography on the Severely and Profoundly Mentally Retarded.

    Science.gov (United States)

    Cass, Michael, Comp.; Schilit, Jeffrey, Comp.

    Presented is an annotated bibliography with approximately 250 entries relating to the severely and profoundly retarded. Citations are listed alphabetically by author under the following categories: assessments, measurements, evaluations; associations; attending behavior; behavior modification; books; classical conditioning; cognitive development;…

  17. Estimation of Energy Stores of Mentally Retarded Individuals.

    Science.gov (United States)

    Litchford, Mary Demarest

    1987-01-01

    The study sought to identify reliable measurements for estimating energy stores of retarded adults (N=80) and possible correlations between energy intakes and obesity. Among results were a lack of significant correlations between caloric intake and anthropometric measures (e.g., tricepts skinfold). Body mass index is suggested as a more practical…

  18. Speech acts: sampling the social construction of mental retardation in everyday life.

    Science.gov (United States)

    Danforth, S; Navarro, V

    1998-02-01

    A sample of speech acts in everyday discourse referring to persons or events having to do with the term mental retardation was analyzed in order to investigate the belief that language use both constructs and reflects cultural norms that define the social roles of persons reduced to object status through categorical membership. Speech acts gathered suggest four emergent themes: the discourse of category membership, the dichotomy of normal and abnormal, issues of place and space, and fear. These themes were explicated from a social constructionist perspective, displaying the way speech acts construct mental retardation and subvert individuals with the label into demeaned and ridiculed objects of cultural fear.

  19. Teaching mathematics to students with mild-to-moderate mental retardation: a review of the literature.

    Science.gov (United States)

    Butler, F M; Miller, S P; Lee, K H; Pierce, T

    2001-02-01

    A systematic search of the literature from 1989 through 1998 was conducted to identify and analyze mathematics interventions for students with mild-to-moderate mental retardation. We found that the focus of instruction has shifted from basic skills instruction to computation and problem-solving instruction. Techniques such as constant-time delay, peer tutoring, time trials, and direct instruction proved beneficial in improving mathematics skills. Further, students with mental retardation learned to employ cognitive strategies successfully when these techniques were included. Although this information is promising, we recommend that further studies be conducted in secondary schools and in inclusive settings.

  20. 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.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.    

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

    Science.gov (United States)

    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…

  4. Dietary Habits and Nutritional Status in Mentally Retarded Children and Adolescents: A Study from North Western India

    Science.gov (United States)

    Mathur, Manju; Bhargava, Rachna; Benipal, Ramandeep; Luthra, Neena; Basu, Sabita; Kaur, Jasbinder; Chavan, B. S.

    2007-01-01

    Objective: To compare the dietary habits and nutritional status of mentally retarded (MR) and normal (NG) subjects and to examine the relationship between the dietary habits and nutritional status and the level of mental retardation in the MR group. Method: A case control design was utilized: 117 MR (random sampling) and 100 NG (quota sampling)…

  5. Stemming the Tide of Overrepresentation: Ensuring Accurate Certification of African American Students in Programs for the Mentally Retarded

    Science.gov (United States)

    Ebersole, Judy L.; Kapp, Stephen A.

    2007-01-01

    African American youths are often overrepresented in programs for the mentally retarded. Possible explanations for this phenomenon include stereotypes related to abilities, different social and educational environments, and problems of instrumentation used in identifying mental retardation. This study reviewed the files of all first- through…

  6. Bone Mineral Density and Respiratory Muscle Strength in Male Individuals with Mental Retardation (with and without Down Syndrome)

    Science.gov (United States)

    da Silva, Vinicius Zacarias Maldaner; Barros, Jonatas de Franca; de Azevedo, Monique; de Godoy, Jose Roberto Pimenta; Arena, Ross; Cipriano, Gerson, Jr.

    2010-01-01

    The purpose of this study was to assess the respiratory muscle strength (RMS) in individuals with mental retardation (MR), with or without Down Syndrome (DS), and its association with bone mineral density (BMD). Forty-five male individuals (15 with DS, 15 with mental retardation (MR) and 15 apparently healthy controls), aged 20-35, participated in…

  7. Diagnosis and treatment of psychiatric and behavioural disorders in mentally retarded individuals: the state of the art.

    Science.gov (United States)

    Dosen, A

    1993-10-01

    It is now well known that a higher proportion of people with mental retardation show behavioural and psychiatric disorders compared to their non-mentally retarded counterparts. However, the exact relationship between psychiatric illness and behavioural disorder in this population is far from clear. There are problems of using the standard diagnostic and classification categories in this population, particularly in those who are severely and profoundly mentally retarded. Recently, there have been many novel approaches to this diagnostic dilemma, including 'developmental approach' and 'psychodynamic approach'. In the Netherlands, the so-called 'developmental-dynamic' approach has been used in the diagnosis and treatment of behavioural and psychiatric disorders in the mentally retarded. There have also been many treatment approaches, including drug therapy, behavioural treatment, psychotherapy, cognitive and social learning. Also the Dutch, Swiss and German traditions have extensive experience in the directive pedagogical treatment of the mentally retarded.

  8. Psycho-legal challenges facing the mentally retarded rape victim

    African Journals Online (AJOL)

    2011-09-03

    Sep 3, 2011 ... ... (Clin Psychol), DPhil. Department of Psychiatry, Faculty of Health Sciences, University of the ... against women and children is rife in South Africa, the country has ... increasingly agree that individuals with mental disabilities.

  9. Context, ability, and performance: comparison of competitive athletics among mildly mentally retarded and nonretarded adults.

    Science.gov (United States)

    Levine, H G; Langness, L L

    1983-03-01

    Setting demands and performance characteristics were compared for mildly mentally retarded and nonretarded basketball players similar in age, playing experience, and general skill level. Observational research was used to study organizational and interactional aspects of competitive games and to record individual and team playing statistics. Self-report questionnaires were administered to assess levels of anxiety. Results show that even though the retarded adults studied were ostensibly playing under "normal" conditions, the games were demonstrably different from those played by nonretarded players in terms of physical setting, rules, coaching, and officiating. Retarded players performed under these conditions with significantly higher levels of anxiety and diminished team effectiveness. The broader consequences of competition in the lives of retarded players was examined.

  10. 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…

  11. Physical Restraint Procedures for Managing Challenging Behaviours Presented by Mentally Retarded Adults and Children.

    Science.gov (United States)

    Harris, John

    1996-01-01

    The literature on the use of physical restraint with adults and children with mental retardation is reviewed, including person-to-person restraint, mechanical devices, and voluntary self-restraint. Conclusions regarding outcomes of contingent and noncontingent restraint, maintenance, reinforcing effects of restraint, and risk of injury are…

  12. Effects of Physical Restraint on the Behavior of Hyperactive Mentally Retarded Persons.

    Science.gov (United States)

    Singh, Nirbhay N.; And Others

    1984-01-01

    Each instance of out-of-seat behavior of four hyperactive moderately/severely mentally retarded eight and nine year olds resulted in return to seat followed by 15-second physical restraint. Out-of-seat behavior of all four Ss increased during two implementations of the restraint contingency compared to levels during alternative baseline periods.…

  13. Blepharophimosis Mental Retardation Syndrome Say-Barber/Biesecker/Young-Simpson Type - New Findings With Neuroimaging

    NARCIS (Netherlands)

    K. Szakszon; E. Berényi; A. Jakab; B. Bessenyei; E. Balogh; T. Koebling; J. Szilvássy; A.C. Knegt; E. Olah

    2011-01-01

    We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidis

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

    Directory of Open Access Journals (Sweden)

    Zafar Ali

    2011-01-01

    Full Text Available 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.

  15. Incidence and Prevalence of Dementia in Elderly Adults with Mental Retardation without Down Syndrome

    Science.gov (United States)

    Zigman, Warren B.; Schupf, Nicole; Devenny, Darlynne A.; Miezejeski, Charles; Ryan, Robert; Urv, Tiina K.; Schubert, Romaine; Silverman, Wayne

    2004-01-01

    Rates of dementia in adults with mental retardation without Down syndrome were equivalent to or lower than would be expected compared to general population rates, whereas prevalence rates of other chronic health concerns varied as a function of condition. Given that individual differences in vulnerability to Alzheimer's disease have been…

  16. Behavioural treatment of a food refusal conversion disorder in a mentally retarded adult.

    Science.gov (United States)

    Weinman, B; Haydon, S; Sapan, J

    1990-12-01

    A 31-year-old woman with mental retardation who demonstrated total food refusal as the symptom of a conversion disorder was successfully treated with behavioural management techniques. The treatment utilized a shaping paradigm combined with relaxation procedures. The results supported the hypothesis that conversion disorder symptoms are maintained through their consequences, and the efficacy of behavioural treatments for those disorders.

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

    Science.gov (United States)

    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.…

  18. Physical Activity, Dietary Intake, and the Insulin Resistance Syndrome in Nondiabetic Adults with Mental Retardation.

    Science.gov (United States)

    Draheim, Christopher C.; Williams, Daniel P.; McCubbin, Jeffrey A.

    2002-01-01

    A study identified 145 adults with mild mental retardation and hyperinsulinemia, borderline high triglycerides, low high-density lipoprotein cholesterol, hypertension, and abdominal obesity. Those who participated in more frequent bouts of physical activity or who consumed lower dietary fat intakes were one-third as likely to have hyperinsulinemia…

  19. Parents' Perceptions of Benefits of Summer Camp for Campers with Mental Retardation.

    Science.gov (United States)

    McCormick, Bryan; And Others

    1992-01-01

    Study explored the perception of parents of campers with mental retardation regarding the benefits of summer camps. Parents rated the relative importance of 22 possible benefits and indicated 6 dimensions of benefits in an ideal program: social skill development, social competence, respite care, cognitive development, expressive development, and…

  20. Nonsyndromic X-linked mental retardation: where are the missing mutations?

    NARCIS (Netherlands)

    Ropers, H.H.; Hoeltzenbein, M.; Kalscheuer, V.M.M.; Yntema, H.G.; Hamel, B.C.J.; Fryns, J.P.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.

    2003-01-01

    Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proxi

  1. Improving Vocational Education with Mentally Retarded Persons: A Conversation with L. Allen Phelps.

    Science.gov (United States)

    Thomas, M. Angele

    1983-01-01

    Special vocational educator L. Allen Phelps identifies major issues in vocational programing for mentally retarded students (including implementing technology and expanding integration); comments on the effects of the changing federal role; notes changes in staffing patterns; cites the need for advocacy by professional associations; and suggests…

  2. Improving Vocational Education for Mentally Retarded Persons: A Conversation with L. Allen Phelps.

    Science.gov (United States)

    Thomas, M. Angele

    1983-01-01

    Through an interview format, L. A. Phelps identifies three major issues confronting vocational educational programing for the mentally retarded in the 1980s; discusses change in the roles of the federal government, professionals, and professional associations; and makes recommendations for interagency cooperation in education and employment of the…

  3. 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

    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...

  4. In-Service Training Materials for Teachers of the Educable Mentally Retarded.

    Science.gov (United States)

    Meyen, Edward L.; Carr, Donald L.

    Developed for the educable mentally retarded, this spiral program of science instruction presents its subjects on several levels for advanced study and reinforcement. Subjects covered are animals, plants, weather and seasons, earth and earth components, the universe, forces, and the human being. Guides for the primary, intermediate, junior high,…

  5. Screening for Osteoporosis in Community-Dwelling Adults with Mental Retardation.

    Science.gov (United States)

    Tyler, Carl V., Jr.; Snyder, Clint W.; Zyzanski, Stephen

    2000-01-01

    Osteoporosis screening of 107 adults, ages 40 to 60, with mental retardation who attended community-based training centers found 21 percent had osteoporosis and 34 percent had osteopenia. The most significant predictor of lower bone mineral densities were Down syndrome, mobility status, and race. (Contains references.) (Author/DB)

  6. Toward Family and Community: Mental Retardation Services in Massachusetts, New England, and the United States.

    Science.gov (United States)

    Braddock, David; Hemp, Richard

    1997-01-01

    Current trends in mental retardation services in Massachusetts were investigated using the New England region, the state of Michigan, and the United States as comparative frames of reference. Massachusetts' movement toward reducing reliance on state institutions, reallocating funding, and developing community services and family support is…

  7. Neurofeedback in Residential Children and Adolescents with Mild Mental Retardation and ADHD Behavior

    NARCIS (Netherlands)

    Breteler, M.H.M.; Pesch, W.; Nadorp, M.; Best, N.; Tomasoa, X.

    2012-01-01

    Neurofeedback (NFB) research has reported improved concentration and attention in children with attention deficit/hyperactivity disorder (ADHD) and progress maintained over time. Would that also apply to children with an IQ between 50 and 70 (mild mental retardation [MMR]) and an IQ between 70 and 8

  8. 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…

  9. Identification Audiometry in an Institutionalized Severely and Profoundly Mentally Retarded Population.

    Science.gov (United States)

    Moore, Ernest J.; And Others

    An audiometric screening survey was conducted on a severely and profoundly mentally retarded population using noise-makers and pure tone audiometry. Of those tested with noise-makers, 83% gave an identifiable response to sound, 7% did not respond, and 10% were considered difficult-to-test. By contrast, 4% passed, 2% failed, and 94% were…

  10. California State Plan for Facilities for the Mentally Retarded, July 1, 1968 - July 30, 1969.

    Science.gov (United States)

    California State Dept. of Public Health, Berkeley. Bureau of Health Facilities Planning and Construction.

    Written to aid in the development and improvement of facilities for the mentally retarded in California, the guide describes the organization of the agency responsible, the State Department of Public Health, and presents the laws relating to hospital survey and construction, the State Health and Safety Code. Further information is provided…

  11. Concurrent validity of the Koppitz Bender-Gestalt emotional indicators among women with mental retardation.

    Science.gov (United States)

    Dixon, J L

    1998-02-01

    This study evaluated the concurrent validity of Koppitz' revised Bender-Gestalt Emotional Indicators among 44 women with mental retardation. The concurrent validity of the Emotional Indicator total score was not supported when compared with responses on two widely used and accepted screening inventories, the Reiss Screen and the Inventory for Client and Agency Planning.

  12. A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition.

    Science.gov (United States)

    Xu, Guoqiang; Jiang, Xiaogang; Jaffrey, Samie R

    2013-10-11

    A nonsense mutation in cereblon (CRBN) causes autosomal recessive nonsyndromic mental retardation. Cereblon is a substrate receptor for the Cullin-RING E3 ligase complex and couples the ubiquitin ligase to specific ubiquitination targets. The CRBN nonsense mutation (R419X) results in a protein lacking 24 amino acids at its C terminus. Although this mutation has been linked to mild mental retardation, the mechanism by which the mutation affects CRBN function is unknown. Here, we used biochemical and mass spectrometric approaches to explore the function of this mutant. We show that the protein retains its ability to assemble into a Cullin-RING E3 ligase complex and catalyzes the ubiquitination of CRBN-target proteins. However, we find that this mutant exhibits markedly increased levels of autoubiquitination and is more readily degraded by the proteasome than the wild type protein. We also show that the level of the mutant protein can be restored by a treatment of cells with a clinically utilized proteasome inhibitor, suggesting that this agent may be useful for the treatment of mental retardation associated with the CRBN R419X mutation. These data demonstrate that enhanced autoubiquitination and degradation account for the defect in CRBN activity that leads to mental retardation.

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

    Science.gov (United States)

    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…

  14. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    NARCIS (Netherlands)

    Tarpey, P.S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; Cole, J.; Dunmore, R.; Jones, D.; Maddison, M.; Mironenko, T.; Turner, R.; Turrell, K.; Varian, J.; West, S.; Widaa, S.; Wray, P.; Teague, J.; Butler, A.; Jenkinson, A.; Jia, M.; Richardson, D.; Shepherd, R.; Wooster, R.; Tejada, M.I.; Martinez, F.; Carvill, G.; Goliath, R.; Brouwer, A.P.M. de; Bokhoven, H. van; Esch, H. van; Chelly, J.; Raynaud, M.; Ropers, H.H.; Abidi, F.E.; Srivastava, A.K.; Cox, J.; Luo, Y.; Mallya, U.; Moon, J.; Parnau, J.; Mohammed, S.; Tolmie, J.L.; Shoubridge, C.; Corbett, M.; Gardner, A.; Haan, E.; Rujirabanjerd, S.; Shaw, M.A.; Vandeleur, L.; Fullston, T.; Easton, D.F.; Boyle, J.; Partington, M.; Hackett, A.; Field, M.; Skinner, C.; Stevenson, R.E.; Bobrow, M.; Turner, G.; Schwartz, C.E.; Gecz, J.; Raymond, F.L.; Futreal, P.A.; Stratton, M.R.

    2009-01-01

    Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR),

  15. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan;

    2011-01-01

    In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implicati...

  16. Self-induced vomiting in X-linked {alpha}-thalassemia/mental retardation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kurosawa, Kenji; Akatsuka, Akira; Ochiai, Yukikatsu [Jikei Univ. School of Medicine, Tokyo (Japan)] [and others

    1996-06-14

    This report poses the question of whether the vomiting observed in X-linked {alpha}-thalassemia/mental retardation syndrome could be self-induced. The authors present a case history which seems to support this hypothesis. 5 refs., 1 fig.

  17. 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…

  18. Prevalence of pervasive developmental disorders in children and adolescents with mental retardation

    NARCIS (Netherlands)

    de Bildt, A; Sytema, S; Kraijer, D; Minderaa, R

    2005-01-01

    Background: Insight into the prevalence of pervasive developmental disorder (PDD) in children and adolescents with mental retardation (MR) is known to be of clinical importance. However, estimating this prevalence is complicated. The literature reports prevalence rates ranging from 3% through 50%. T

  19. Cardiovascular Disease Prevalence and Risk Factors of Persons with Mental Retardation

    Science.gov (United States)

    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…

  20. 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…

  1. 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 t

  2. 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…

  3. Facilitation and Inhibition Effects in Visual Selective Attention Processes of Individuals with and without Mental Retardation.

    Science.gov (United States)

    Cha, Kyeong-Ho; Merrill, Edward C.

    1993-01-01

    Adolescents identified letters presented to them on the basis of color. Subjects (n=20) with mental retardation exhibited facilitation when the target was identical to the target on the preceding trial but did not exhibit inhibition when it had been a distractor on the preceding trial. Inefficient suppression processes may result in performance…

  4. An Assessment of Treatment Integrity in Behavioral Intervention Studies Conducted with Persons with Mental Retardation

    Science.gov (United States)

    Wheeler, John J.; Mayton, Michael R.; Carter, Stacy L.; Chitiyo, Morgan; Menendez, Anthony L.; Huang, Ann

    2009-01-01

    The purpose of this study was to assess the degree to which behavioral intervention studies conducted with persons with mental retardation operationally defined the independent variables and evaluated and reported measures of treatment integrity. The study expands the previous work in this area reported by Gresham, Gansle, and Noell (1993) and…

  5. Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Timshel, Susanne; Carlsen Lunding, Jytte Merete

    2014-01-01

    From intellectual disability to new treatment modalities of fragile X syndrome: Ugeskr Læger 2014;176:V06130350 In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form......, and this article reviews clinical and therapeutic aspects of the syndrome....

  6. Pharmacotherapy of Disruptive Behavior in Mentally Retarded Subjects: A Review of the Current Literature

    Science.gov (United States)

    Hassler, Frank; Reis, Olaf

    2010-01-01

    The review presented here describes the state of the art of pharmacological treatment of aggression in subjects with mental retardation (MR) summing up results for both, children and adults. In general, psychopharmacological treatment of disruptive behavior in individuals with MR is similar to the treatment in subjects without MR. Compared to…

  7. Benzodiazepine Behavioral Side Effects: Review and Implications for Individuals with Mental Retardation.

    Science.gov (United States)

    Kalachnik, John E.; Hanzel, Thomas E.; Sevenich, Robert; Harder, Stuart R.

    2002-01-01

    A literature review found behavioral side effects occurred for 13% of 446 individuals with mental retardation who were prescribed benzodiazepine for either behavioral or psychiatric conditions (n=138, 17.4%), epilepsy (n=20, 15.4%), or other medical conditions such as myoclonus or cerebral palsy (n=100, 2%). Implications of nonrecognition are…

  8. Neuroleptic Malignant Syndrome and Mental Retardation: Review and Analysis of 29 Cases.

    Science.gov (United States)

    Boyd, Richard D.

    1993-01-01

    Neuroleptic malignant syndrome, an uncommon but potentially lethal complication of antipsychotic medication, is reviewed, including analysis of 29 cases in which the condition appeared in individuals with mental retardation. Recommendations about reducing morbidity and mortality in this population are offered. (Author/DB)

  9. A Review of Substance Use Research among Those with Mental Retardation

    Science.gov (United States)

    McGillicuddy, Neil B.

    2006-01-01

    This article reviews research conducted on the cigarette, alcohol, and illicit drug use of adolescents and adults with mental retardation (MR). The majority of the research related to substance use conducted on this population has been limited to surveys. Overall, results of these studies suggest that, although substance use is slightly lower…

  10. Reassessing Emotion Recognition Performance in People with Mental Retardation: A Review.

    Science.gov (United States)

    Moore, Derek G.

    2001-01-01

    This paper reviews the evidence for problems on emotion-recognition tasks by people with mental retardation. It finds a lack of evidence for the specificity of these performance deficits and suggests that previous findings resulted from IQ-related deficits in memory and attention, in imagination, and in dealing with static or ambiguous stimuli.…

  11. Computer Technology in Clinical Psychology Services for People with Mental Retardation: A Review.

    Science.gov (United States)

    Davies, Sara; Hastings, Richard P.

    2003-01-01

    Review of the literature on computer technology in clinical psychology services for people with mental retardation is organized around stages of a scientist-practitioner working model: assessment, formulation, and intervention. Examples of technologies to facilitate work at each stage are given. Practical difficulties with implementation of…

  12. Reading Instruction for Students with Moderate Mental Retardation: Review and Analysis of Research.

    Science.gov (United States)

    Conners, Frances A.

    1992-01-01

    Analysis of research on reading instruction for children with moderate mental retardation indicated that word analysis instruction is a feasible option; word analysis is the most effective method of oral reading error correction; and the strongest sight-word instruction methods include those that use picture integration, constant delay, and the…

  13. 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

  14. High-resolution genomic microarrays for X-linked mental retardation.

    NARCIS (Netherlands)

    Lugtenberg, D.; Veltman, J.A.; Bokhoven, J.H.L.M. van

    2007-01-01

    Developments in genomic microarray technology have revolutionized the study of human genomic copy number variation. This has significantly affected many areas in human genetics, including the field of X-linked mental retardation (XLMR). Chromosome X-specific bacterial artificial chromosomes

  15. Teaching Money Skills to Individuals with Mental Retardation: A Research Review with Practical Applications.

    Science.gov (United States)

    Browder, Diane M.; Grasso, Edward

    1999-01-01

    A review of the literature identified 43 studies that provided instruction in money skills for individuals with mental retardation. Most studies taught money skills in the context of making purchases or classroom instruction on money computation. Guidelines are offered for research and practice. (DB)

  16. Teaching Mathematics to Students with Mild-to-Moderate Mental Retardation: A Review of the Literature.

    Science.gov (United States)

    Butler, Frances M.; Miller, Susan P.; Lee, Kit-Hung; Pierce, Thomas

    2001-01-01

    A literature search to identify and analyze mathematics interventions for students with mild-to-moderate mental retardation found the focus of instruction has shifted since 1989 from basic skills instruction to computation and problem-solving instruction. Techniques such as constant-time delay, peer tutoring, time trials, and direct instruction…

  17. The Assessment of Social Functioning in Individuals with Mental Retardation: A Review

    Science.gov (United States)

    Bielecki, Joanne; Swender, Stephen L.

    2004-01-01

    Social skills deficits and excesses are a defining aspect of mental retardation (MR). Research indicates that there is an established relationship between social skills and maladaptive behaviors. A number of studies demonstrate that the social competence of individuals with MR and comorbid psychopathology can be enhanced with social skills…

  18. Use of Portfolio Assessment with Students with Cognitive Disabilities/Mental Retardation

    Science.gov (United States)

    Klein-Ezell, Colleen; Ezell, Dan

    2005-01-01

    Portfolio assessment has gained momentum as educators search for more authentic ways to document student performance. Many aspects of portfolio assessment are beneficial for students with cognitive disabilities/mental retardation. This article explores various benefits the portfolio assessment process offers diagnosticians and other educators…

  19. Linking Transition Services to Student Outcomes for Students with Moderate/Severe Mental Retardation.

    Science.gov (United States)

    Brown, Pat

    2000-01-01

    Case studies of 6 students with moderate/severe mental retardation investigated the impact of the federal transition mandate on student outcomes. Data revealed that high school programs have become more community-based, employment oriented, and age-appropriate with an increased emphasis on establishing linkages with adult service providers.…

  20. Self-Reports of Depression by Community-Based Mildly Mentally Retarded Adults.

    Science.gov (United States)

    Prout, H. Thompson; Schaefer, Bianca M.

    1985-01-01

    Thirty-seven institutionalized profoundly mentally retarded adults were studied to determine whether thyroid medication is an essential component of a recently introduced nutritional supplementation treatment. Biochemical assessments confirmed that compliance with the treatments was adequate; however, no significant IQ improvements were observed.…

  1. The Dexamethasone Suppression Test as an Indication of Depression in Patients with Mental Retardation.

    Science.gov (United States)

    Mattes, Jeffrey A.; Amsell, Loren

    1993-01-01

    Administration of the Dexamethasone Suppression Test (DST) for three groups of institutionalized patients with severe/profound mental retardation found that the 12 depressed patients more frequently (though not significantly) had positive DSTs and significantly higher cortisol levels compared with nondepressed patients with and without other…

  2. Effects of Physical Training on Cardiovascular Fitness and Behavior Patterns of Mentally Retarded Adults.

    Science.gov (United States)

    Schurrer, Rob; And Others

    1985-01-01

    Five mentally retarded adults participated in an ongoing walk-jogging program for 23 weeks. Assessments for maximal oxygen comsumption (VO2 max) and body weight changes before and after training revealed Ss's body weight was reduced by 3.6 kg and VO2 max increased 43 percent. Favorable behavior changes were also noted. (CL)

  3. Benzodiazepine Behavioral Side Effects: Review and Implications for Individuals with Mental Retardation.

    Science.gov (United States)

    Kalachnik, John E.; Hanzel, Thomas E.; Sevenich, Robert; Harder, Stuart R.

    2002-01-01

    A literature review found behavioral side effects occurred for 13% of 446 individuals with mental retardation who were prescribed benzodiazepine for either behavioral or psychiatric conditions (n=138, 17.4%), epilepsy (n=20, 15.4%), or other medical conditions such as myoclonus or cerebral palsy (n=100, 2%). Implications of nonrecognition are…

  4. Verbal Control of Motor Behaviour in Mentally Retarded Children: A Re-examination of Luria's Theory.

    Science.gov (United States)

    Rotundo, N.; Johnson, E. G.

    1981-01-01

    Results supported A. Luria's contention that the development of mentally retarded children, regardless of etiology, is arrested at the second (asemantic) stage and that their performance deficiencies are even greater than might be predicted simply on the basis of their developmental level. (Author/SB)

  5. Prohibiting Capital Punishment for People Identified with Mental Retardation: Protection or Discrimination?

    Science.gov (United States)

    Musher, Deborah A.

    2002-01-01

    This article reviews the literature advocating or opposing a universal ban on capital punishment for people diagnosed with mental retardation and also offers the author's own views. It is argued that the realities of the American legal and penal systems require such a ban until each case can be examined thoroughly by individuals well informed…

  6. Self-Injurious Behavior within the Menstrual Cycle of Women with Mental Retardation.

    Science.gov (United States)

    Taylor, Derek V.; And Others

    1993-01-01

    Catamenial and behavioral records of nine women with mental retardation who exhibited self-injurious behavior (SIB) were analyzed for six months. Analysis confirmed that SIB was cyclic across the menstrual cycle, with the highest frequency occurring in the early follicular and late follicular phases. (Author/JDD)

  7. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

    NARCIS (Netherlands)

    Poirier, K.; Lacombe, D.; Gilbert-Dussardier, B.; Raynaud, M.; Desportes, V.; Brouwer, A.P.M. de; Moraine, C.; Fryns, J.P.; Ropers, H.H.; Beldjord, C.; Chelly, J.; Bienvenu, T.

    2006-01-01

    Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24

  8. Procedures Used to Modify Self-Injurious Behaviors in Visually Impaired, Mentally Retarded Individuals.

    Science.gov (United States)

    Longo, Julie; And Others

    1981-01-01

    The article reviews the use and limitations of medical and behavioral approaches (restraints, shock, drugs, punishment and aversive stimulation, reinforcement of incompatible behaviors, and overcorrection) to reduce self injury in visually impaired, mentally retarded persons. Legal and ethical considerations are pointed out. (Author/CL)

  9. Neuroleptic Malignant Syndrome and Mental Retardation: Review and Analysis of 29 Cases.

    Science.gov (United States)

    Boyd, Richard D.

    1993-01-01

    Neuroleptic malignant syndrome, an uncommon but potentially lethal complication of antipsychotic medication, is reviewed, including analysis of 29 cases in which the condition appeared in individuals with mental retardation. Recommendations about reducing morbidity and mortality in this population are offered. (Author/DB)

  10. The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Trommelen, J.C.M.; Brunner, H.G.; Hamel, B.C.J.; Fryns, J.P.

    2001-01-01

    In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 22 males (i.e. 5 % of the male population) had XLMR, accounting for 36.1 % of the residents diagnosed with a monogenic disorder (n = 61). Fragile X syndrome (FRAXA) was diagnosed in 16 residents,

  11. Pharmacotherapy of Disruptive Behavior in Mentally Retarded Subjects: A Review of the Current Literature

    Science.gov (United States)

    Hassler, Frank; Reis, Olaf

    2010-01-01

    The review presented here describes the state of the art of pharmacological treatment of aggression in subjects with mental retardation (MR) summing up results for both, children and adults. In general, psychopharmacological treatment of disruptive behavior in individuals with MR is similar to the treatment in subjects without MR. Compared to…

  12. Using Portfolio Assessment to Develop Transition Programs for Students with Mental Retardation

    Science.gov (United States)

    Carothers, Douglas E.; Taylor, Ronald L.

    2005-01-01

    The changing perspectives of mental retardation require the use of assessment techniques that reveal strengths and weaknesses in the individual's present level of functioning and highlight the areas and intensity of needed supports. Portfolios provide such a method of assessment because they are sensitive to small improvements in functioning,…

  13. 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…

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

    Science.gov (United States)

    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)

  15. Autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly

    Energy Technology Data Exchange (ETDEWEB)

    Khaldi, F.; Bennaceur, B.; Hammou, A.; Hamza, M.; Gharbi, H.A.

    1988-07-01

    Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: Retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations are found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.

  16. Habituation and Generalization of Habituation by Nonambulatory, Profoundly Mentally Retarded Children.

    Science.gov (United States)

    Kelman, William P.; Whiteley, John H.

    1986-01-01

    Generalization of habituation along a form dimension was investigated with 12 nonambulatory, profoundly mentally retarded children. Fixation times decreased over habituation trials and increased during test trials. No differences in fixation times to test stimuli were found in the group data, and analyses of individual subject data indicated that…

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

    Science.gov (United States)

    Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C; Oudakker, Astrid R; Kjaergaard, Susanne; Vianna-Morgante, Angela M; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S; Ullmann, Reinhard; Schwartz, Charles E; Stratton, Michael; Raymond, F Lucy; Veltman, Joris A; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H M; Hehir-Kwa, Jayne Y; Froyen, Guy; Chelly, Jamel; Ropers, Hans Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G; Hamel, Ben C J; Rosenberg, Carla; van Bokhoven, Hans; de Brouwer, Arjan P M

    2010-03-01

    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 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-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation.

  18. The Side Effects of Electric Shock Employed with Mentally Retarded Persons.

    Science.gov (United States)

    Hamilton, David I.

    1982-01-01

    The paper surveys the use of electric shock with persons diagnosed as primarily mentally retarded and substantiates findings of positive effects, including response generalisation, increased sociability, and positive emotional behaviors. Ethical considerations relating to physical danger and choice of target behaviour are discussed briefly.…

  19. High-resolution genomic microarrays for X-linked mental retardation.

    NARCIS (Netherlands)

    Lugtenberg, D.; Veltman, J.A.; Bokhoven, J.H.L.M. van

    2007-01-01

    Developments in genomic microarray technology have revolutionized the study of human genomic copy number variation. This has significantly affected many areas in human genetics, including the field of X-linked mental retardation (XLMR). Chromosome X-specific bacterial artificial chromosomes microarr

  20. Effects of Serum Zinc Supplementation on Pica Behavior of Persons with Mental Retardation.

    Science.gov (United States)

    Lofts, Ronald H.; And Others

    1990-01-01

    Of 806 institutionalized adults with mental retardation, 15.5 percent exhibited pica. Fifty-four percent of the pica group had serum zinc levels below normal range, whereas 7 percent of a control group had serum zinc levels below the normal range. After supplementation with chelated zinc, residents had significant reductions in pica. (Author/JDD)

  1. The Effects of a Vitamin Supplement on the Pica of a Child with Severe Mental Retardation.

    Science.gov (United States)

    Pace, Gary M.; Toyer, Edward A.

    2000-01-01

    The effects of a common multiple vitamin on the pica of a 9-year-old with severe mental retardation and anemia were evaluated. A BAB design revealed that pica was decreased by the vitamin. Further research investigating the generality of this finding and effects of combining biological and behavioral interventions are discussed. (Contains five…

  2. Rett Syndrome Symptomatology of Institutionalized Adults with Mental Retardation: Comparison of Males and Females.

    Science.gov (United States)

    Burd, Larry; And Others

    1991-01-01

    The study of 297 institutionalized adults with mental retardation found no symptom of Rett syndrome occurred more frequently in males than in females and no single cluster of symptoms appeared to differentiate males from females. Only females were found to meet the necessary criteria for diagnosis of Rett syndrome. (Author/DB)

  3. 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 ident

  4. Disruption of the epigenetic code: an emerging mechanism in mental retardation.

    NARCIS (Netherlands)

    Bokhoven, J.H.L.M. van; Kramer, J.M.

    2010-01-01

    Mental retardation (MR) is a highly diverse group of cognitive disorders. Gene defects account for about half of all patients and mutations causative for impaired cognition have been identified in more than 400 genes. While there are numerous genetic defects underlying MR, a more limited number of p

  5. An Approach for Counseling Mexican-American Parents of Mentally Retarded Children. Vol. 1, No. 4.

    Science.gov (United States)

    Acevedo, Homero

    The monograph on the counseling of Mexican-American parents of mentally retarded children begins with a discussion of Mexican-American culture, on the premise that a good knowledge of background, culture, customs, and mores is necessary to understand and counsel such parents. Treated are stereotyped images of each other held by Anglos and…

  6. 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…

  7. Availability of Group Homes for Persons with Mental Retardation in the United States.

    Science.gov (United States)

    Janicki, Matthew P.; And Others

    1983-01-01

    A survey of each state's mental retardation/developmental disablity agency determined results such as that each state has group home programs, that at least 57,494 persons reside in 6,302 group homes, and that 42,212 persons were in group homes of 15 persons or less. (Author/MC)

  8. 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

  9. The Availability of Instructional Media for Teaching Mentally Retarded Students in Nyanza Region, Kenya

    Science.gov (United States)

    Odero, Orao Remi

    2016-01-01

    Learners with mental retardation pose a unique problem to the education system, one not presented by any other exceptionality. In view of the challenges and limitations of these learners, modification of both social and educational environment is fundamental in-order to attain effective schooling for them. One of the best proven medium of teaching…

  10. [Anxiety in children and adolescents with pervasive developmental disorder without mental retardation: review of literature].

    Science.gov (United States)

    Soussana, M; Sunyer, B; Pry, R; Baghdadli, A

    2012-02-01

    Anxiety is highly prevalent in Pervasive Developmental Disorder (PDD) without mental retardation but is too often misdiagnosed. The authors suggest a critical review of current data of the PDD without mental retardation in children and adolescents, in order to summarize research published in this field. After describing specific features, this article tackles the issue of prevalence of anxiety among this population, then deals with present-time assessment and treatments of comorbid anxiety. This review was based on a systematic search of the main online databases (Science Direct, PsychInfo, Medline and Pubmed) in order to compile surveys published on Asperger syndrome and high-functioning autism-related anxiety among children and adolescents. This study focuses on papers published between 1995 and 2010, using strict diagnostic criteria for anxiety and PDD, and a controlled group, with the exception of pharmacological studies because none are controlled. We found seven studies assessing the prevalence of anxiety among children and adolescents with PDD, four assessment tools and 12 treatments. Anxiety disorders were shown in 42% of children and adolescents with PDD without mental retardation. This disorder is related to age and level of cognitive functioning and is likely to affect PDD without mental retardation as children and adolescents with anxiety disorder without PDD. This review highlights a major problem: assessment of anxiety in PDD without mental retardation. Actually, only two PDD adapted instruments have been found: the Autism Co-Morbidity Interview Present and Lifetime Version (ACI-PI) and the Stress Survey Schedule (SSS) for persons with autism. Such tools being methodologically limited, the diagnosis of anxiety disorder is all the more difficult to establish. Consequently, considering suitable treatment is not always proposed. Recent surveys show how profitable pharmacological treatment and behavioral intervention like Cognitive-Behavior Therapy (CBT

  11. 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

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

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    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

  13. Educational Specifications for Center for Trainable Mentally Retarded.

    Science.gov (United States)

    Alachua County Schools, Gainesville, FL.

    Educational specifications for a center for trainable mentally handicapped children are outlined. Philosophy and objectives and discernable curriculum trends for the future are provided. The site (planning, development, playground area, pupil transportation), the program (what the teacher does, what the student does or way of work, size of groups,…

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

    Science.gov (United States)

    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.

  15. A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation.

    Science.gov (United States)

    Pandhi, Deepika; Khanna, Deepshikha; Singal, Archana; Madhu, Sri Venkata

    2007-11-01

    A 15-year-old male presented with ichthyosis since infancy with panhypopituitarism, short stature and knock-knees, delayed puberty, high scrotal retractile testes, mental retardation and corneal opacities. He developed recurrent tinea capitis and tinea corporis. The clinical symptomatology indicates that this case cannot be considered as a subtype of inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity. Two previously reported cases with possibly the same syndrome also had ichthyosis associated with variable endocrinopathy. Thorough endocrinological evaluation and appropriate intervention in patients of ichthyosis with short stature may reduce the morbidity associated with retarded skeletal growth and gonadal maturation.

  16. A comparison of the Aberrant Behavior Checklist and the GAF among adults with mental retardation and mental illness.

    Science.gov (United States)

    Shedlack, Karen J; Hennen, John; Magee, Christine; Cheron, Daniel M

    2005-04-01

    Psychiatric assessment among individuals with a diagnosis of both mental retardation and mental illness presents a clinical challenge. This retrospective study compared two rating scales--the Aberrant Behavior Checklist (ABC) and the Global Assessment of Functioning (GAF)--to determine the scales' utility in a partial hospital setting. Although ABC and GAF ratings were weakly correlated, the ABC revealed symptom patterns consistent with recognizable features of psychiatric syndromes and differential improvement in symptoms within and between diagnostic subgroups. The ABC provided a more useful measure of treatment response than the GAF in this patient population.

  17. 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.

  18. SELF-CONTROL FORMATION TECHNOLOGY FOR PRIMARY SCHOOL CHILDREN WITH MILD MENTAL RETARDATION IN LEARNING PROCESS

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    Vera A. Galkina

    2015-01-01

    Full Text Available The purpose of the article is to present self-control development technology meeting up-to-date requirements in the special education for pupils with mild mental retardation; to reveal the self-control special features for children of the studied category found during the experiment; to show necessity of the task-oriented work. Methods. The methods involve theoretical analysis of relevant psychologicpedagogical and methodical literature; empiric methods (conversation, writing tasks, observation; pedagogic experiment; quantitative and qualitative analysis. Results. The article contains the data obtained during the experiment concerning study of the self-control special features for primary school children with mild mental retardation in learning process. The author describes and scientifically justifies the self-control development technology based on the step-bystep approach for children of the studied category. The revealed reasons of low self-control level for primary school children with intellectual disorder are proven by qualitative and quantitative analysis. The presented experimental results confirm the developed technology efficiency and can be applied while studying of all disciplines at primary school. Scientific novelty. For the first time the unified (may be used at all subjects and comprehensive (for all self-control components self-control development technology was developed and proven for primary school children with mild mental disorder in learning process; transient phase necessity is proved and justified for mastering all control kinds by primary school children with mild mental retardation. Practical significance. The developed technology allows qualitative enhancement of learning activities for primary school children with mild mental retardation. The research results may be used in both correctional and educational work at special (correctional schools (type VIII and at general-education schools. In addition the results

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Tobacco and the institutionalized mentally retarded: usage choices and ethical considerations.

    Science.gov (United States)

    Burtner, A P; Wakham, M D; McNeal, D R; Garvey, T P

    1995-01-01

    Patterns of tobacco use were observed among 749 people diagnosed with mental retardation residing in a state-operated facility. Specifically, individual preference for tobacco products and frequency of use were documented. Subjects were observed using several types of tobacco products: cigarettes, cigars, chewing tobacco, snuff, and cigarette butts. Approximately 7% (n = 52) used at least one form of tobacco; ten individuals used more than one tobacco product. Interestingly, 20.5% of the individuals diagnosed with mild or moderate mental retardation (n = 122) consumed tobacco products, a pattern of behavior that closely approximates that of the general population (20-24%). Ethical considerations pertaining to the availability of tobacco products to this special population are presented.

  1. The effectiveness of resilience training on life satisfaction among mothers with mentally retarded children

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    Sahar Mirghobad Khodarahmi

    2013-11-01

    Full Text Available The present study investigates the effectiveness of resilience training on life satisfaction among the mothers with mentally retarded children. The method is semi experimental using pretest posttest with control group. Statistical population of research includes elementary mentally retarded student who were enrolled in Najafabad Sareban exceptional school over the period 2012-2013 educational year. Sample group includes 50 subjects who randomly replaced in control and experimental groups. Experimental group members participated in a 10-session resilience training. Finally, both groups completed post-tests where research scales were Diener life satisfaction questionnaire. The data are analyzed by co-variance analysis test. Results are significant and indicates that resilience training is effective on life satisfaction (p<0.05.

  2. Alterations of neocortical pyramidal neurons: turning points in the genesis of mental retardation

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    Alberto eGranato

    2014-08-01

    Full Text Available Pyramidal neurons represent the majority of neocortical cells and their involvement in cognitive functions is decisive. Therefore, they are the most obvious target of developmental disorders characterized by mental retardation. Genetic and non-genetic forms of intellectual disability share a few basic pathogenetic signatures that result in the anomalous function of pyramidal neurons. Here we review the key mechanisms impairing these neurons and their participation in the cortical network, with special focus on experimental models of fetal exposure to alcohol. Due to the heterogeneity of pyramidal neurons, some alterations affect selectively a given cell population, which may also differ depending on the considered pathology. These specific features open new possibilities for the interpretation of cognitive defects observed in mental retardation syndromes, as well as for novel therapeutic interventions.

  3. Alterations of neocortical pyramidal neurons: turning points in the genesis of mental retardation.

    Science.gov (United States)

    Granato, Alberto; De Giorgio, Andrea

    2014-01-01

    Pyramidal neurons (PNs) represent the majority of neocortical cells and their involvement in cognitive functions is decisive. Therefore, they are the most obvious target of developmental disorders characterized by mental retardation. Genetic and non-genetic forms of intellectual disability share a few basic pathogenetic signatures that result in the anomalous function of PNs. Here, we review the key mechanisms impairing these neurons and their participation in the cortical network, with special focus on experimental models of fetal exposure to alcohol. Due to the heterogeneity of PNs, some alterations affect selectively a given cell population, which may also differ depending on the considered pathology. These specific features open new possibilities for the interpretation of cognitive defects observed in mental retardation syndromes, as well as for novel therapeutic interventions.

  4. Evaluation of flexibility of the ankle in elementary students with mental retardation

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    Stavrou V.

    2011-01-01

    Full Text Available Aim: This study aims to measure and evaluate the flexibility of the legs, namely the ankle by measuring the maximum values in flexion and extension of both legs. Method: The study included twelve students with mental retardation. Measured and recorded values of ankle-bending extent of both legs and assign the average of each test. Calculated and measurement the temperature of space and time. The measurement flexion and extension of the ankle was a plastic protractor. Results: The flexion presents decrease at the right ankle relationship with the left ankle by 1.86. The extension presents decrease at the left ankle relationship with the right ankle by 11.43. Conclusions: The results found that the normal range of motion of joints has a significant role in improving efficiency and thus on quality of life of persons with mental retardation. The flexibility is a determinant of performance and therefore should be evaluated at regular intervals.

  5. 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

    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...

  6. THE INCIDENCE OF BENDER-GESTALT FIGURE DEVIATIONS IN A GROUP OF MENTALLY RETARDED PSYCHIATRIC PATIENTS

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    Habibollah Ghassemzadeh

    1994-06-01

    Full Text Available The Bender-Gestalt Test was given to thirty mentally-retarded psychiatric patients. The mean, standard deviation, and standard error were 56.73, 26.25, and 4.80 respectively. Rotation was the most frequent major deviation which occurred in all the designs."nDesign # 7 was the most difficult one to be reproduced in the sample. This design by itself, was subject to 47% of distortion, 79% of omission, and 21% of rotation.

  7. Nonspecific X-linked mental retardation with macrocephaly and obesity: A further family

    Energy Technology Data Exchange (ETDEWEB)

    Baraitser, M.; Reardon, W. [Hospital for Sick Children, London (United Kingdom); Vijeratnam, S. [Highlands Hospital, London (United Kingdom)

    1995-07-03

    The phenotypic nonspecificity of many forms of X-linked mental retardation has hampered attempts to classify them into clinically homogeneous groups. One such condition, described by Clark and Baraitser, has been the subject of a single pedigree report to date. We now describe a further pedigree whose affected members share many manifestations with those reported by Clark and Baraitser, and we consider the possible distinction between this condition and Atkin-Flaitz syndrome. 9 refs., 4 figs., 1 tab.

  8. SELF-CONTROL FORMATION TECHNOLOGY FOR PRIMARY SCHOOL CHILDREN WITH MILD MENTAL RETARDATION IN LEARNING PROCESS

    OpenAIRE

    Vera A. Galkina

    2015-01-01

    The purpose of the article is to present self-control development technology meeting up-to-date requirements in the special education for pupils with mild mental retardation; to reveal the self-control special features for children of the studied category found during the experiment; to show necessity of the task-oriented work. Methods. The methods involve theoretical analysis of relevant psychologicpedagogical and methodical literature; empiric methods (conversation, writing tasks, observati...

  9. Effects of Exercise and Diet on Body Composition and Cardiovascular Fitness in Adults with Severe Mental Retardation.

    Science.gov (United States)

    Croce, Ronald V.

    1990-01-01

    The study evaluated the effects of an aerobic fitness program and dietary intervention with external control components on three obese adults with severe mental retardation. Results indicated severely retarded adults respond to a program of progressive aerobic exercise and caloric restriction much the same way as nonretarded persons. (Author/DB)

  10. Teaching Generative Grammar to Mentally Retarded Children: A Review and Analysis of a Decade of Behavioral Research.

    Science.gov (United States)

    Welch, Steven J.

    1981-01-01

    Research (1968-1978) on the development of generative grammar in mentally retarded students is summarized for such topics as noun pluralization and suffixes, pronouns, adjectives, articles, verbs, prepositions, interrogatives, and generalization. Unresolved issues in generalization are noted. (CL)

  11. Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?

    Science.gov (United States)

    Pfeiffer, R A; Kapferer, L; Tietze, H U

    1996-01-01

    We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question.

  12. Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

    Directory of Open Access Journals (Sweden)

    Etemadi

    2016-08-01

    Full Text Available Background Chromosomal aberrations are one of the most common causes of mental retardation (MR. Objectives In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR patients at a charity center in Hamadan, Iran, were investigated. Methods Fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., Down syndrome, Fragile X syndrome, and Klinefelter syndrome were included in the study. Standard cytogenetic techniques and high resolution GTG banding were performed on all the patients. Results All the patients were male, with a mean age of 37.12 years. Skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. All the patients showed a moderate to severe level of mental retardation. None of the patients had numerical chromosome abnormalities. Two out of the 50 patients (4% demonstrated structural chromosomal abnormalities. One patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2. Conclusions The presence of structural chromosomal abnormalities (4% in the studied MR patient population emphasizes the importance of cytogenetic investigation for all idiopathic MR patients.

  13. Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.

    Science.gov (United States)

    Blackwood, D H R; Thiagarajah, T; Malloy, P; Pickard, B S; Muir, W J

    2008-10-01

    Genetic factors contribute to schizophrenia and bipolar disorder, and linkage and association studies have been successful in identifying several candidate genes. However these genes explain only a very small part of the total population risk and the psychoses appear to be very heterogeneous with several models of genetic inheritance relevant to different groups of patients, including some cases caused by multiple common genetic variants, while others are single gene disorders. Studying chromosomal abnormalities is a useful strategy for identifying genes in illness, and patients with both mental retardation and psychosis form a special group where large chromosomal abnormalities detected by routine cytogenetic analysis are more prevalent than in patients with schizophrenia or bipolar disorder alone, or in the general population. Studying these patients provides valuable opportunities to identify genes contributing to psychoses. This review of the literature on large chromosomal rearrangements in patients with mental retardation and psychotic illness illustrates how schizophrenia and bipolar phenotypes are associated with a large number of different chromosomal disruptions. Recent genome wide association studies have identified an excess of small chromosomal deletions and duplications in schizophrenia, adding further support to the importance of chromosomal structural variation in psychotic illness. The genes GRIK4 and NPAS3, each associated with psychosis in patients with mental retardation are discussed to illustrate the value of rare cytogenetic events as a means to signpost neurobiological pathways of general importance for illness in the wider population.

  14. Effect of computer game intervention on the attention capacity of mentally retarded children.

    Science.gov (United States)

    Rezaiyan, Akram; Mohammadi, Eesa; Fallah, Parviz A

    2007-10-01

    The low rate of understanding and the limited domain of attention are two important and distinctive characteristics of mental retardation. One of the important strategies to provide effective education for these subjects is to lessen the backgrounds and impacts of these affective factors. The aim of this research was to find the effect of computer games program on the amount of mentally retarded persons' attention. Sixty educable male mentally retarded subjects were selected from two 24-h care centres in Tehran. The Toulouse-Pieron Scale was used to determinate the subjects' attention at pre-post test. Members of the experimental group were subjected to 35 sets of computer games. After use of the sets of computer games, the attention scores of the subjects were assessed immediately after the intervention and 5 weeks later. The results showed that exactly after the intervention the average attention scores of the experimental group were significantly higher than those of the control group. But, 5 weeks after the intervention, there was actually no significant difference.

  15. [Predictive variables for mental retardation in a Pediatric Epilepsy Monitoring Unit. Neuropsychological assessment].

    Science.gov (United States)

    López-Sala, A; Palacio-Navarro, A; Donaire, A; García, G; Colomé, R; Boix, C; Sans, A; Campistol, J; Sanmartí, F X

    2010-03-03

    We sought to describe the epidemiological and clinical data from our patients in the Pediatric Epilepsy Monitoring Unit (PEMU) of the Sant Joan de Deu Hospital of Barcelona, and determine the variables of risk for mental retardation. A retrospective review of PEMU reports and hospital discharge summaries from March 2005 to December 2008 was conducted. The data from patients with intelligence quotient (IQ) estimated, older than 3 years of age and with epileptic electroencephalography (EEG) activity was analyzed in 158 patients (8.8 +/- 5.2 years; 55.1% boys). Of those pediatric patients, 63 had IQ less than 70 and 47 an IQ greater than or equal to 70. Intractable epilepsy was present in all of them. The percentage of the patients with mental retardation is significantly higher in patients with onset of epilepsy before 24 months (68.3%) than patients with later onset (27.7%). Onset of seizures, EEG findings and epilepsy etiology are significant risk factors for mental retardation. Early age at seizure, multifocal epilepsy and cryptogenic etiology are factors of worse prognosis to normal development of cognitive functions in pediatric intractable epilepsy.

  16. Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.

    Science.gov (United States)

    Gutiérrez-Amavizca, B E; Juárez-Vázquez, C I; Orozco-Castellanos, R; Arnaud, L; Macías-Gómez, N M; Barros-Nuñez, P

    2013-01-01

    Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive congenital disorder that presents with megalocornea, mental retardation, hypotonia, and facial dysmorphism, among other signs. With the report of this new case, and after an extensive review of the literature, we attempt to delineate the Neuhauser syndrome phenotype.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

    Science.gov (United States)

    Basel-Vanagaite, Lina; Rainshtein, Limor; Inbar, Dov; Gothelf, Doron; Hennekam, Raoul; Straussberg, Rachel

    2007-08-01

    We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven had anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. None of the sibs with normal intelligence had jaw or dental anomalies. The child with MR but without a jaw anomaly was somewhat less severely retarded, had seizures and severe psychosis, which may point to his having a separate disorder. Biochemical and neurological studies, including brain MRI and standard cytogenetic studies, yielded normal results; fragile X was excluded, no subtelomeric rearrangements were detectable, and X-inactivation studies in the mother showed random inactivation. We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus).

  19. 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.

  20. 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…

  1. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism.

    Science.gov (United States)

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-09-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis.

  2. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

    Science.gov (United States)

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-01-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis. PMID:27625870

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

    Directory of Open Access Journals (Sweden)

    C.B. Santos

    2000-12-01

    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.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18% representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

  4. Spatial and temporal sequencing of signs and words by severely mentally retarded children.

    Science.gov (United States)

    Bowler, D M; Kiernan, C

    1987-07-01

    The effects of manual sign or spoken word labels on the spatial or temporal ordering of sequences of stimuli by severely mentally retarded children were investigated. The stimuli were presented in a spatial array so that the spatial (left-right) order never corresponded with the temporal (first-last) order. Other researchers have suggested that sign labels would be recalled in the spatial order of presentation and word labels, in the temporal order. The results did not support this, revealing instead that subjects tended to preserve spatial order and reverse temporal order, irrespective of the modality of the stimulus label.

  5. Inclusion of people with mental retardation and other developmental disabilities in communities of faith.

    Science.gov (United States)

    Vogel, Jeannine; Polloway, Edward A; Smith, J David

    2006-04-01

    Our focus in this paper is on efforts to include persons with developmental disabilities in faith communities. We provide a review of the relevant literature on religious participation and faith communities for persons with disabilities and blend the limited data available on these topics with the perspectives of individuals whose efforts focus on these concerns. Topics explored are the implications of being part of the faith community in terms of its impact on quality of life, the barriers to inclusion in such communities, strategies for overcoming these barriers, and special considerations for adults with mental retardation or other developmental disabilities. Discussion of the implications for enhancing inclusion in faith communities is provided.

  6. Oddity performance in preschool children at risk for mental retardation: transfer and maintenance.

    Science.gov (United States)

    Soraci, S A; Deckner, C W; Haenlein, M; Baumeister, A A; Murata-Soraci, K; Blanton, R L

    1987-01-01

    The oddity performance of five preschool children at risk for mental retardation was facilitated by increasing the number of nonodd elements in a visual array. A combination intrasubject reversal and multiple baseline across subjects design indicated the internal validity of interventions designed to enhance the perceptual salience and consequent stimulus control of the odd stimulus. Results demonstrate that transfer and maintenance of oddity learning can be obtained even with individuals for whom correct oddity responding is uncommon. The typically poor performance of young and developmentally delayed children as compared to nondelayed children on tasks such as the oddity task may be attributable to a lower sensitivity to relational information.

  7. Assessing movement control in children with mental retardation: a generalizability analysis of observers.

    Science.gov (United States)

    Ulrich, D A; Riggen, K J; Ozmun, J C; Screws, D P; Cleland, F E

    1989-09-01

    A generalizability study was conducted to determine the percentage of variance associated with observers and trials when assessing movement control in children with mild mental retardation. One group of observers received competency-based training and another group experienced informal training. A series of decision studies employing the variance component estimates indicated that different conditions of observation need to be employed based on the type of training received in movement control analysis. Observers receiving informal training needed to observe twice as many trials of the kick, jump, and overband throw compared to competency-trained observers to reach an acceptable level of reliability.

  8. Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Timshel, Susanne; Carlsen Lunding, Jytte Merete;

    2014-01-01

    From intellectual disability to new treatment modalities of fragile X syndrome: Ugeskr Læger 2014;176:V06130350 In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form...... of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine...

  9. AAIDD proposed recommendations for ICD-11 and the condition previously known as mental retardation.

    Science.gov (United States)

    Tassé, Marc J; Luckasson, Ruth; Nygren, Margaret

    2013-04-01

    The World Health Organization (WHO) is in the process of seeking input from professional stakeholder groups and consumers regarding the draft proposals of the 11th edition of the International Classification of Diseases (ICD-11). The American Association on Intellectual and Developmental Disabilities (AAIDD) convened a small group of distinguished interdisciplinary expert professionals in intellectual disability to review the ICD-11 proposal regarding revisions of the condition previously known as "mental retardation." This article presents the recommendations made by the AAIDD to the WHO Secretariat regarding the name, definition, diagnostic guidelines, and classification of the condition known today as intellectual disability.

  10. Fra mental retardering til målrettet behandling ved fragilt X-syndrom

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Timshel, Susanne; Lunding, Jytte

    2014-01-01

    In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological...... mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome....

  11. False Balance in Public Health Reporting? Michele Bachmann, the HPV Vaccine, and "Mental Retardation".

    Science.gov (United States)

    Thomas, Ryan J; Tandoc, Edson C; Hinnant, Amanda

    2017-02-01

    This content analysis of media coverage of Michele Bachmann's erroneous comments that the HPV vaccine causes mental retardation explores the relationship between truth-telling (the presentation of accurate information) and balance (presenting opposing perspectives of an issue equally and legitimately) in public health reporting. Of 200 articles analyzed, about 50% provided correction and about 40% provided a counterpoint. We also found that health reporters tended to engage in truth-telling and balance more than political reporters. Implications for theory and practice are discussed.

  12. Hidden visual capabilities in mentally retarded subjects diagnosed as deaf-blind.

    Science.gov (United States)

    Jacobsen, K; Magnussen, S; Smith, L

    1997-10-01

    The visual acuity of twelve multi-handicapped, mentally retarded subjects, diagnosed as deaf-blind, was measured on two occasions with the Teller Acuity Cards (TAC). Eight subjects scored above the criterion for legally blind and the results of six of these indicated various degrees of poor to approaching-normal eyesight. To evaluate high-level vision four subjects were tested with the Fagan Test, assessing visual recognition memory for faces subsequent to familiarization with the preferential looking technique. The results for three subjects showed evidence for perceptual recognition. It is concluded that TAC combined with the Fagan Test may detect perceptual capacities unnoticed by clinical observation.

  13. 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....

  14. 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...

  15. 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

  16. Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization

    Directory of Open Access Journals (Sweden)

    Farkhondeh Behjati

    2013-01-01

    Full Text Available Background: Mental retardation (MR has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH should be used. It has been shown that 15-25% of idiopathic MR (IMR has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. Materials and Methods: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. Results: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re-evaluation are removed. Conclusion: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.

  17. Psychiatric syndromes comorbid with mental retardation: differences in cognitive and adaptive skills.

    Science.gov (United States)

    Di Nuovo, Santo F; Buono, Serafino

    2007-11-01

    The study concerns the specific cognitive and adaptive skills of persons dually diagnosed with mental retardation (MR) and comorbid pathologies, as schizophrenia, personality and mood disorders, pervasive developmental disorders, epilepsy and ADHD. The sample was composed of 182 subjects, diagnosed as mild or moderate MR level, age range from 6 years 8 months to 50 years 2 months, mean age 17.1 (standard deviation 7.9). All the subjects were inpatients in a specialized structure for the diagnosis and the treatment of MR. The instruments of the study were Wechsler Intelligence Scale (WAIS-R or WISC-R according to the chronological age of subjects) and Vineland Adaptive Behavior Scale (VABS). Results confirm that comorbidity is a factor differentiating among mentally retarded subjects. Both verbal processes requiring memory retrieval and visuo-spatial processes are involved as differentiating features. ADHD strongly increases the impairment of cognitive skills, while behavioral disorders are less damaging in MR performance. In adult samples, the differentiating role of comorbid syndromes in MR individuals is reduced for cognitive skills, and limited to some basic verbal abilities, more impaired in mood disorder, less in schizophrenic disorder. The areas of adaptation and socialization, motor and daily living skills, are impaired more in generalized development disturbances than in comorbid schizophrenic and personality and mood disorders. An accurate psychological assessment of dual diagnoses is useful in detecting the specific underlying processes differentiating the comorbid syndromes, and in planning an appropriate rehabilitative treatment.

  18. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Ahlbom, B.E.; Anneren, G. [Univ. Hospital, Uppsala (Sweden); Sidenvall, R. [Central Hospital of Hudiksvall (Sweden)

    1996-08-23

    We report on a girl with a large interstitial deletion of the long arm of chromosome 21 and with mild mental retardation, congenital hypothyroidism, and hyperopia. The deletion [del(21)(q11.1-q22.1)] extends molecularly from marker D21S215 to D21S213. The distal breakpoint is not clearly defined but is situated between markers D21S213 and IFNAR. This patient has the largest deletion of chromosome 21 known without having severe mental retardation or malformations. The deletion does not involve the {open_quotes}Down syndrome chromosome{close_quotes} region, the region of chromosome 21 which in trisomy causes most of the manifestations of Down syndrome. Apparently, the proximal part of the long arm of chromosome 21 does not include genes that are responsible for severe clinical effects in the event of either deletion or duplication, since several reported patients with either trisomy or deletion of this region have mild phenotypic abnormalities. Congenital hypothyroidism is much more common in Down syndrome than in the average population. Thus, the congenital hypothyroidism of the present patient might indicate that there is one or several genes on the proximal part of chromosome 21, which might be of importance for the thyroid function. 24 refs., 4 figs., 2 tabs.

  19. The development of cortical columns: role of Fragile X mental retardation protein.

    Science.gov (United States)

    Bureau, Ingrid

    2009-05-01

    Neuronal circuits in the brain are complex and precise. Here, I review aspects of the development of cortical columns in the rodent barrel cortex, focusing on the anatomical and functional data describing the maturation of ascending glutamatergic circuits. Projections from layer 4 to layer 3 develop into cortical columns with little macroscopic refinement. Depriving animals of normal sensory experience induces long-term synaptic depression but does not perturb this pattern of development. Mouse models of mental retardation can help us understand the mechanisms of development of cortical columns. Fmr1 knock-out (ko) mice, a model for Fragile X syndrome, lack Fragile X mental retardation protein (FMRP), a suppressor of translation present in synapses. Because FMRP expression is stimulated by neuronal activity, Fmr1-ko mice provide a model to survey the role of sensory input in brain development. Layer 4 to layer 3 projections are altered in multiple ways in the young mutant mice: connection rate is low and layer 4 cell axons are spatially diffuse. Sensory deprivation rescues the connection rate phenotype. The interaction of FMRP and neuronal activity in the development of cortical circuits is discussed.

  20. 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.

  1. X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

    Science.gov (United States)

    Bauters, Marijke; Van Esch, Hilde; Marynen, Peter; Froyen, Guy

    2005-01-01

    Array-CGH technology for the detection of submicroscopic copy number changes in the genome has recently been developed for the identification of novel disease-associated genes. It has been estimated that submicroscopic genomic deletions or duplications will be present in 5-7% of patients with idiopathic mental retardation (MR). Since 30% more males than females are diagnosed with MR, we have developed a full coverage X chromosome array-CGH with a theoretical resolution of 82 kb, for the detection of copy number alterations in patients with suspected X-linked mental retardation (XLMR). First, we have validated the genomic location of X-derived clones through male versus female hybridisations. Next, we validated our array for efficient and reproducible detection of known alterations in XLMR patients. In all cases, we were able to detect the deletions and duplications in males as well as females. Due to the high resolution of our X-array, the boundaries of the genomic aberrations could clearly be identified making genotype-phenotype studies more reliable. Here, we describe the production and validation of a full coverage X-array-CGH, which will allow for fast and easy screening of submicroscopic copy number alterations in XLMR patients with the aim to identify novel MR genes or mechanisms involved in a deranged cognitive development.

  2. Chromosomal microarray analysis in a girl with mental retardation and spina bifida.

    Science.gov (United States)

    Ben Abdallah, Inesse; Hannachi, Hanene; Soyah, Najla; Saad, Ali; Elghezal, Hatem

    2011-01-01

    Chromosomal imbalances comprise a major cause of mental retardation, particularly in association with congenital malformations and dysmorphic features. Chromosomal analysis using banded karyotyping is limited by the low resolution of this technique, and cryptic chromosomal rearrangements cannot be detected. We describe a 6-year-old girl with mental retardation, mild growth, congenital malformation, and facial anomalies. Chromosomal analysis with karyotyping produced normal results. Because the phenotype suggested chromosomal abnormality, microarray comparative genomic hybridization was used to search for a possible cryptic anomaly. A subtelomeric chromosomal imbalance, consisting of partial trisomy 2q35 and partial monosomy 3p26, was detected and confirmed using fluorescence in situ hybridization. This rearrangement was inherited from an equilibrated maternal t(2;3) reciprocal translocation. Comparative genomic hybridization array in similar situations is useful in detecting cryptic chromosomal rearrangements, identifying genes contained in deleted or duplicated regions, establishing a precise phenotype-genotype correlation, and offering unambiguous genetic counseling. Copyright © 2011 Elsevier Inc. All rights reserved.

  3. Social class and parenting children with mild and moderate mental retardation.

    Science.gov (United States)

    Floyd, F J; Saitzyk, A R

    1992-10-01

    Based on Kohn's (1977) and Gecas' (1979) theories of social class and parenting values, the role of socioeconomic status (SES) as a determinant of parenting attitudes and behaviors and as a moderator of problems associated with raising children with handicaps was evaluated among 171 families raising a child with mild or moderate mental retardation. Self-report measures assessed mothers' and fathers' attitudes regarding control, independence, and closeness within the family, and parental and family problems. Supportive, aversive, and controlling parent-child interactions were observed in the home. As expected, higher SES was associated with parental attitudes and behaviors related to fostering independent initiative in the family, and lower SES parents exhibited relatively more controlling and negative behaviors. However, regardless of SES, controlling parental behaviors also were responsive to the level of functioning of the child with mental retardation. Consistent with an hypothesis about violations of SES-related values, negative and controlling interactions with the child were more highly correlated with the parents' reports of parental and family problems for upper SES as opposed to lower SES parents. Several models of SES and family adaptation are discussed.

  4. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

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    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.

  5. 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.

  6. Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein.

    Science.gov (United States)

    Lee, Hye Young; Ge, Woo-Ping; Huang, Wendy; He, Ye; Wang, Gordon X; Rowson-Baldwin, Ashley; Smith, Stephen J; Jan, Yuh Nung; Jan, Lily Yeh

    2011-11-17

    How transmitter receptors modulate neuronal signaling by regulating voltage-gated ion channel expression remains an open question. Here we report dendritic localization of mRNA of Kv4.2 voltage-gated potassium channel, which regulates synaptic plasticity, and its local translational regulation by fragile X mental retardation protein (FMRP) linked to fragile X syndrome (FXS), the most common heritable mental retardation. FMRP suppression of Kv4.2 is revealed by elevation of Kv4.2 in neurons from fmr1 knockout (KO) mice and in neurons expressing Kv4.2-3'UTR that binds FMRP. Moreover, treating hippocampal slices from fmr1 KO mice with Kv4 channel blocker restores long-term potentiation induced by moderate stimuli. Surprisingly, recovery of Kv4.2 after N-methyl-D-aspartate receptor (NMDAR)-induced degradation also requires FMRP, likely due to NMDAR-induced FMRP dephosphorylation, which turns off FMRP suppression of Kv4.2. Our study of FMRP regulation of Kv4.2 deepens our knowledge of NMDAR signaling and reveals a FMRP target of potential relevance to FXS.

  7. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

    Science.gov (United States)

    Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter

    2008-04-01

    Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

  8. 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.

  9. A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.

    Science.gov (United States)

    Jin, Zhijuan; Yu, Li; Geng, Juan; Wang, Jian; Jin, Xingming; Huang, Hong

    2015-08-01

    We present array comparative genomic hybridization (aCGH) characterization of a novel Xq21.1-25 duplication in a 2-year-old girl with facial dysmorphism, mental retardation and short stature. Analysis of aCGH results revealed a 47,232kb duplication region that harbored 231 RefSeq genes, including 32 OMIM genes. Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of mental retardation with X chromosome duplication.

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

    Science.gov (United States)

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

    2016-11-01

    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 cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

  11. The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

    Science.gov (United States)

    Zahir, F; Friedman, J M

    2007-10-01

    Our understanding of the causes of mental retardation is benefiting greatly from whole-genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are undetectable by conventional cytogenetic analysis. The current method of choice for performing whole-genome scans for CNVs is array genomic hybridization (AGH). Several platforms are available for AGH, each with its own strengths and limitations. This review discusses considerations that are relevant to the clinical use of whole-genome AGH platforms for the diagnosis of pathogenic CNVs in children with mental retardation. Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics.

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

    KAUST Repository

    Al-Tawashi, 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.

  13. La comunicación en la formación laboral de los escolares con retraso mental leve Communication in mentally retarded children’ labor training

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    Prudencio Alberto Leyva Figueredo

    2017-01-01

    Full Text Available Educating mentally retarded students is a priority task in the Cuban educational system. Communication and labor training are essential components of such a formative process for their key function in personal development and social and labor insertion. Consequently, the study herein described aims at explaining the role of communication in labor education. Theoretical methods,such as analysis and synthesis, induction and deduction, were used, as well as the empirical method of documents analysis. The main finding is precisely the theoretical framework that highlights the education of mentally retarded.

  14. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

    NARCIS (Netherlands)

    B.B.A. de Vries (Bert); B.A. Oostra (Ben); M.F. Niermeijer (Martinus); A. Tibben (Arend); A.M.W. van den Ouweland (Ans); S. Mohkamsing; H.J. Duivenvoorden (Hugo); E. Mol; K. Gelsema; M. van Rijn; D.J.J. Halley (Dicky); L.A. Sandkuijl (Lodewijk)

    1997-01-01

    textabstractThe fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis

  15. Project TRABAJO and Individualized Bilingual Education for Children with Retarded Mental Development. E.S.E.A. Title VII [and] Chapter 720 Annual Evaluation Report, 1980-81.

    Science.gov (United States)

    New York City Board of Education, Brooklyn, NY. Office of Educational Evaluation.

    Project TRABAJO (an academic and job program) and the Individualized Bilingual Education for Children with Retarded Mental Development(a Chapter 720 Program) are two programs which provide supplementary and instructional support for 150 mildly and moderately mentally retarded New York City school students with limited English proficiency. The…

  16. 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

    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...

  17. The Effect of a Parent Education on the Self-Concept, Achievement, and Behavior of Educable Mentally Retarded Negro Pre-Adolescents.

    Science.gov (United States)

    Schleicher, Kurt Walter

    This study determined whether a systematic program of parent education for a period of six weeks would effect significant changes in the self-concept, attitude, behavior, and academic achievement of the mentally retarded children of these parents. Two groups of educable mentally retarded Negro pre-adolescents were compared on measures of…

  18. State Guidelines for Mental Retardation and Intellectual Disabilities: A Re-visitation of Previous Analyses in Light of Changes in the Field

    Science.gov (United States)

    Polloway, Edward A.; Patton, James R.; Smith, J. David; Lubin, Jacqueline; Antoine, Karian

    2009-01-01

    In 2002, the American Association on Mental Retardation (AAMR) (Luckasson et al., 2002) revised their manual on mental retardation. It also extended the changes that had been made in the previous (1992) manual to further promote an alternative approach to definition and classification in the field. The study reported here sought to determine the…

  19. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

    NARCIS (Netherlands)

    B.B.A. de Vries (Bert); B.A. Oostra (Ben); M.F. Niermeijer (Martinus); A. Tibben (Arend); A.M.W. van den Ouweland (Ans); S. Mohkamsing; H.J. Duivenvoorden (Hugo); E. Mol; K. Gelsema; M. van Rijn; D.J.J. Halley (Dicky); L.A. Sandkuijl (Lodewijk)

    1997-01-01

    textabstractThe fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis

  20. Addressing the Needs of the Criminal Defendant with Mental Retardation: The Special Educator as a Resource to the Criminal Justice System.

    Science.gov (United States)

    Everington, Caroline; Luckasson, Ruth

    1989-01-01

    The expertise of special educators can aid in providing justice for criminal defendants with mental retardation in such areas as identification of mental retardation, evaluations and habilitation concerning competence to stand trial or enter plea agreements, and provision of services to defendants in corrections programs. (Author/DB)

  1. The life-world of mothers who care for mentally retarded children: the Katutura township experience

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    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.

  2. Assertiveness and problem-solving training for mildly mentally retarded persons with dual diagnoses.

    Science.gov (United States)

    Nezu, C M; Nezu, A M; Arean, P

    1991-01-01

    This study investigated the differential effectiveness of assertiveness and problem-solving training on dually diagnosed patients' adaptive social behavior, distress and psychiatric symptoms, anger control, and problem-solving coping skills using a counterbalanced design. Assessments were conducted at pretreatment, midphase, posttreatment, and a 3-month follow-up examination. A combined assertiveness and problem-solving training package was effective for treatment of individuals with mild mental retardation with dual psychiatric diagnoses. Specifically, improvements occurred regarding both self-report measures of distress and caregiver ratings of adaptive functioning; however, no essential differences were found between these two treatment protocols. The importance of using self-regulatory models of therapy with this population is highlighted, and recommendations were made for future research.

  3. Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.

    Science.gov (United States)

    John, Neetha; Rajasekhar, Moka; Girisha, Katta Mohan; Sharma, Podila Satya Venkata Narasimha; Gopinath, Puthiya Mundyat

    2013-04-01

    Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability. A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland. All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients. Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.

  4. A case of mental retardation with paraphilia treated with depot leuprorelin.

    Science.gov (United States)

    Park, Woo Sung; Kim, Kyung Min; Jung, Yong Woo; Lim, Myung Ho

    2014-09-01

    Paraphilia is a psychiatric disease that has been difficult to cure. However, recently developed therapeutic methods hold promise. The patient was a 20-yr-old male with chief complaints of continuous masturbation, genital exposure, and aggressive behavior that started 2 yr ago. We administered leuprorelin 3.6 mg intramuscular injection per month, a depot gonadotrophin-releasing hormone analogue, to this patient who a severe mentally retardation with paraphilia. The clinical global impression (CGI)-severity, CGI-improvement and aberrant behavior checklist were performed. After one month, we observed significant improvement in symptoms, such as decreases of abnormal sexual behavior and sexual desire. The GnRH analogues are suggested to be used as an alternative or supplementary therapeutic method for sexual offenders after clinical studies.

  5. Bilateral anterior capsulotomy and amygdalotomy for mental retardation with psychiatric symptoms and aggression

    Science.gov (United States)

    Zhang, Shizhen; Zhou, Peizhi; Jiang, Shu; Li, Peng; Wang, Wei

    2017-01-01

    Abstract Rationale: Mental retardation (MR) is a chronic condition that often has no readily identifiable cause or treatment. Aggression and psychiatric symptoms are prevalent in children with MR. Surgical treatment of aggression and psychiatric symptoms of MR is seldom investigated and studies are limited. Patient concerns: We encountered a 19-year-old female who had MR with aggression and psychiatric symptoms. Diagnoses: She was diagnosed with mild MR with aggressiveness and psychiatric symptoms. Interventions: Because the patient was refractory to conservative treatment, bilateral anterior capsulotomy and amygdaloid neurosurgery were performed for her psychiatric symptoms and aggression. The benefits and side effects of the surgery were analyzed. Outcomes: After surgery, the patient showed significant alleviation of her psychiatric symptoms and aggression with no observed side effects. Lessons: Bilateral anterior capsulotomy in combination with amygdaloid neurosurgery may resolve both psychiatric and aggressive symptoms. Future investigations of control studies with large patient cohorts are needed. PMID:28072743

  6. 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.

  7. Fragile X mental retardation protein in learning-related synaptic plasticity.

    Science.gov (United States)

    Mercaldo, Valentina; Descalzi, Giannina; Zhuo, Min

    2009-12-31

    Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways. Previous studies have mostly focused on the roles of FMRP within the hippocampus--a key structure for spatial memory. However, recent studies indicate that FMRP may have a more general contribution to brain functions, including synaptic plasticity and modulation within the prefrontal cortex. In this brief review, we will focus on recent studies reported in the prefrontal cortex, including the anterior cingulate cortex (ACC). We hypothesize that alterations in ACC-related plasticity and synaptic modulation may contribute to various forms of cognitive deficits associated with FXS.

  8. Application of Array-based Comparative Genome Hybridization in Children with Developmental Delay or Mental Retardation

    Directory of Open Access Journals (Sweden)

    Jao-Shwann Liang

    2008-12-01

    Full Text Available Children with developmental delay or mental retardation (DD/MR are commonly en countered in child neurology clinics, and establishing an etiologic diagnosis is a challenge for child neurologists. Among the etiologies, chromosomal imbalance is one of the most important causes. However, many of these chromosomal imbalances are submicroscopic and cannot be detected by conventional cytogenetic methods. Microarray-based comparative genomic hybridization (array CGH is considered to be superior in the investigation of chromosomal deletions or duplications in children with DD/MR, and has been demonstrated to improve the diagnostic detection rate for these small chromosomal abnormalities. Here, we review the recent studies of array CGH in the evaluation of patients with idiopathic DD/MR.

  9. 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

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    ilknur Erol

    2015-03-01

    Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

  10. Comparison of propofol infusion and isoflurane for maintenance of anesthesia for dentistry in mentally retarded patients.

    Science.gov (United States)

    Antila, H.; Valli, J.; Valtonen, M.; Kanto, J.

    1992-01-01

    A continuous infusion of propofol following an induction dose of 2 mg/kg was compared with thiopental/isoflurane for the induction and maintenance of anesthesia in 20 mentally retarded outpatients undergoing routine dental procedures. The infusion rate of propofol and the concentration of isoflurane were adjusted to maintain the heart rate and blood pressure within +/- 25% of the baseline values. Postoperative wakefulness was assessed using a 100-mm visual analogue scale at the time of extubation and at 5, 10, 15, 30, 60, 90, and 120 min after extubation. Both agents provided adequate anesthesia for the treatment, and no major adverse reactions occurred. Recovery was more complete during the first hour after extubation in the propofol group, and these patients were discharged earlier. PMID:1308378

  11. Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males.

    Science.gov (United States)

    Khalifa, M M; Struthers, J L

    2002-01-01

    Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features.

  12. Factors related to adaptive behavior changes among profoundly mentally retarded, physically disabled persons.

    Science.gov (United States)

    Silverman, W P; Silver, E J; Sersen, E A; Lubin, R A; Schwartz, A A

    1986-05-01

    Changes in adaptive competence over a 1-year period of profoundly mentally retarded, physically disabled persons living in a moderately sized residential facility or in small community programs were examined. No evidence was found to indicate that habilitative growth was greater for residents in the small community programs. Indeed, residents of the moderately sized facility showed evidence of skill acquisition whereas community residents declined slightly in adaptive skill. Within community programs, presence of a relevant goal was positively related to change in independent living skills, and clients with musculoskeletal impairments tended to regress in motor and eating skills. These data suggest that client characteristics and habilitative program content are significant predictors of client growth, and size of the residence is probably not as important for delivery of effective services.

  13. Atypical Bourneville sclerosis without epilepsy and mental retardation: case report and literature review.

    Science.gov (United States)

    Ciobanu, Adela Magdalena; Lisievici, Mihai Gheorghe; Coman, Teodora Camelia; Ciurea, Jean; Popa, Mihaela Camelia

    2014-01-01

    Twenty-four-year-old woman without familiar detected signs of Bourneville's disease or tuberous sclerosis complex (TSC) was diagnosed with this disease by casual discovery on cerebral magnetic resonance imaging (MRI) of an intraventricular tumor, after symptoms consist in headache, equilibrium disturbances, and progressive loss of vision. MRI shows an intracranial mass, 33÷24÷30 mm in size, localized at the level of third ventricle and lateral ventricles, with irregular shape, interesting the foramen of Monroe. There are also nodular areas of calcification and a supratentorial hydrocephalus involving the lateral ventricles and the posterior part of the third ventricle. The patients present facial angiofibromas, but from the classical triad of the disease, the epilepsy and mental retardation were absent, the patient never presented seizures. The total removal of the tumor (peace to peace) was performed surgically, the macroscopic features of resected tumor (20/10/10 mm) was of white-gray color, elastic consistency, localized in the both lateral ventricles (left>right) and into the third ventricle, traversing the foramen Monroe. The histopatological examination associated with specific localization of tumor and the facial angiofibromas are very suggestive for subependimar giant cell astrocytoma (SEGA). We have a rare case of atypical or incomplete TSC in which the epileptic seizures and the mental retardation are absent, the intelligence is normal, but occur some psychical symptoms: anxiety, sleeplessness, and autism or behavior disturbances. The evolution of this case was marked by complications because of postoperative hydrocephalus and multiple shunt insertions and revisions were performed after the tumor resection.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Alzheimer neuropathology in mentally retarded adults: statistical independence of regional amyloid plaque and neurofibrillary tangle densities.

    Science.gov (United States)

    Silverman, W; Popovitch, E; Schupf, N; Zigman, W B; Rabe, A; Sersen, E; Wisniewski, H M

    1993-01-01

    The densities of neurofibrillary tangles (NFT) and neuritic plaques (NP) were assessed quantitatively in the brains of 303 mentally retarded adults 23 to 90 years of age at the time of their deaths (mean = 59.5 years). Cases with Down's syndrome, hydrocephalus and metabolic disorders were excluded from the study. Examinations of frontal, temporal, parietal, and occipital cortex, as well as hippocampus and parahippocampal gyrus were made in every case. NPs and/or NFTs were observed within the brains of 163 cases (53.8%). Detailed analyses indicated that NP density within all brain regions examined was positively related to age, with the largest age associated increases in density seen in frontal and temporal regions. In contrast, NFT density increased with age only within hippocampus and parahippocampal gyrus, but not neocortex. In addition, NP lesions within neocortex were more diffusely distributed across regions for older compared to younger cases, while no similar age-associated change in the topography of NFTs was observed. Finally, factor analyses of the combined NP and NFT data indicated that, while strong correlations existed across the various brain regions for measures of NP and NFT densities, considered separately, there was virtually no indication of regional associations between these two types of lesions. While these data, from cases with mental retardation, cannot be generalized directly to the nonretarded population, they provide strong evidence that models of Alzheimer pathogenesis must take into account the fact that regional densities of NPs and NFTs, and, therefore, the underlying processes associated with formation of these lesions, can be largely independent.

  16. 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......). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before....

  17. What Works for People with Mental Retardation? Critical Commentary on Cognitive-Behavioral and Psychodynamic Psychotherapy Research.

    Science.gov (United States)

    Beail, Nigel

    2003-01-01

    This paper reviews what is known about the effectiveness of the more controversial use of psychodynamic and cognitive-behavioral psychotherapy with people who have mental retardation. It examines self-management approaches (problem solving, anger management, and cognitive therapy) and psychodynamic psychotherapy. The paper concludes that there has…

  18. Preventing Sexual Abuse of Persons with Disabilities: A Curriculum for Hearing Impaired, Physically Disabled, Blind and Mentally Retarded Students.

    Science.gov (United States)

    O'Day, Bonnie; And Others

    The curriculum on sexual abuse is intended for professionals working with hearing impaired, physically disabled, blind, and mentally retarded students. Introductory material addresses the vulnerability of disabled adolescents to sexual abuse; presents background information on such topics as victims, offenders, reporting abuse, and Minnesota laws…

  19. Interdisciplinary Team Functioning: A Case Team Approach to Habilitation in a Residential Facility for the Mentally Retarded.

    Science.gov (United States)

    Zweig, Herbert M.

    Detailed are the functions, structure, and relationship to data gathering systems of an interdisciplinary team habilitation approach in a residential center for mentally retarded persons. Deficiencies of the system currently in operation at Willowbrook Developmental Center (New York) are reviewed. It is explained that suggested reorganization is…

  20. The Effect of a Constant Time Delay Procedure on Teaching an Adult with Severe Mental Retardation a Recreation Bowling Skill

    Science.gov (United States)

    Zhang, Jiabei; Cote, Bridget; Chen, Shihui; Liu, John

    2004-01-01

    The purpose of this study was to examine the effect of a constant time delay (CTD) procedure on teaching a recreational bowling skill to a 39-year-old male with severe mental retardation. The CTD procedure used 5 seconds as delay interval, task direction as target stimulus, physical assistance as controlling prompt, and oral praise as reinforcer.…

  1. Effect of Rhythmic Auditory Stimulation on Controlling Stepping Cadence of Individuals with Mental Retardation and Cerebral Palsy

    Science.gov (United States)

    Varsamis, Panagiotis; Staikopoulos, Konstantinos; Kartasidou, Lefkothea

    2012-01-01

    One of the purposes of Rhythmic Auditory Stimulation (RAS) is to improve the control of dysfunctional movement patterns. This study aimed to extend the line of research by focussing on secondary students with mental retardation and cerebral palsy. According to the study's assumption, cadence can be controlled through a stable and low signal…

  2. Improving the Sequential Time Perception of Teenagers with Mild to Moderate Mental Retardation with 3D Immersive Virtual Reality (IVR)

    Science.gov (United States)

    Passig, David

    2009-01-01

    Children with mental retardation have pronounced difficulties in using cognitive strategies and comprehending abstract concepts--among them, the concept of sequential time (Van-Handel, Swaab, De-Vries, & Jongmans, 2007). The perception of sequential time is generally tested by using scenarios presenting a continuum of actions. The goal of this…

  3. Using self-management, video feedback, and graphic feedback to improve social behaviour of youth with mild mental retardation

    NARCIS (Netherlands)

    Embregts, P.J.C.M.

    2003-01-01

    The purpose of the present study was to investigate effects of a training package on appropriate and inappropriate behaviors of residents with mental retardation with internalizing or externalizing behavior problems and the responses of staff to these behavior problems. The training procedure includ

  4. Enhancing Independent Internet Access for Individuals with Mental Retardation through Use of a Specialized Web Browser: A Pilot Study.

    Science.gov (United States)

    Davies, Daniel K.; Stock, Steven E.; Wehmeyer, Michael L.

    2001-01-01

    In this study, a prototype web browser, called Web Trek, that utilizes multimedia to provide access for individuals with cognitive disabilities was developed and pilot-tested with 12 adults with mental retardation. The Web Trek browser provided greater independence in accessing the Internet compared to Internet Explorer. (Contains references.)…

  5. Using self-management, video feedback, and graphic feedback to improve social behaviour of youth with mild mental retardation

    NARCIS (Netherlands)

    Embregts, P.J.C.M.

    2003-01-01

    The purpose of the present study was to investigate effects of a training package on appropriate and inappropriate behaviors of residents with mental retardation with internalizing or externalizing behavior problems and the responses of staff to these behavior problems. The training procedure

  6. Factor Validity and Norms for the Aberrant Behavior Checklist in a Community Sample of Children with Mental Retardation.

    Science.gov (United States)

    Marshburn, Elaine C.; Aman, Michael G.

    1992-01-01

    Teacher ratings on the Aberrant Behavior Checklist were collected on 666 students with mental retardation attending special classes. Classroom placement and age had significant effects on subscale scores, whereas sex failed to affect ratings. The study concludes that the original scoring method, developed for individuals in residential facilities,…

  7. Cross-Validation of the Factor Structure of the Aberrant Behavior Checklist for Persons with Mental Retardation.

    Science.gov (United States)

    Bihm, Elson M.; Poindexter, Ann R.

    1991-01-01

    The original factor structure of the Aberrant Behavior Checklist was cross-validated with a U.S. sample of 470 persons with moderate to profound mental retardation (27 percent nonambulatory). Results replicated previous findings, suggesting that the original five factors (irritability, lethargy, stereotypic behavior, hyperactivity, and…

  8. Factor Validity and Reliability for the Aberrant Behavior Checklist-Community in a Japanese Population with Mental Retardation.

    Science.gov (United States)

    Ono, Yoshiro

    1996-01-01

    Evaluation of the factor validity and reliability of the Aberrant Behavior Checklist (Japanese version) with 322 subjects (mean age 30) with moderate to profound mental retardation found most items loading on the same factors as in the original factor solution, high coefficient alphas across 5 subscales, high test-retest reliability, and…

  9. The Contribution of Novel Brain Imaging Techniques to Understanding the Neurobiology of Mental Retardation and Developmental Disabilities

    Science.gov (United States)

    Gothelf, Doron; Furfaro, Joyce A.; Penniman, Lauren C.; Glover, Gary H.; Reiss, Allan L.

    2005-01-01

    Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades…

  10. Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome

    Science.gov (United States)

    Mazzone, Luigi; Vassena, Lia; Ruta, Liliana; Mugno, Diego; Galesi, Ornella; Fichera, Marco

    2012-01-01

    Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 [right arrow] qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive,…

  11. Familial C/G Translocation in Three Relatives Associated with Severe Mental Retardation, Short Stature, Unusual Dermatoglyphics and Other Malformations

    Science.gov (United States)

    Yanagisawa, S.; Hiraoka, K.

    1971-01-01

    Three case studies of patients (relatives) suffering from a chromosomal aberration (translocation between one of the C group chromosomes and one of the G group chromosomes) resulting in severe mental retardation and skin malformations are reported. It was suggested that the anomaly is hereditary in nature (CD)

  12. Discriminant Validity of the Vineland Scales: Score Profiles of Individuals with Mental Retardation and a Specific Disorder.

    Science.gov (United States)

    Balboni, Giulia; Pedrabissi, Luigi; Molteni, Massimo; Villa, Susanna

    2001-01-01

    Utility of the Vineland Adaptive Behavior Scales-Expanded Form to discriminate among areas of adaptive behavior was substantiated by comparing profiles of scores obtained by 113 individuals with mental retardation and either a communication, social behavior, or motor disorder. Results support the use of the Vineland Scales in ecological evaluation…

  13. Utility of the Vineland Adaptive Behavior Scales in Diagnosis and Research with Adults Who Have Mental Retardation.

    Science.gov (United States)

    Beail, Nigel

    2003-01-01

    This article discusses the advantages and disadvantages of the Vineland Adaptive Behavior Scales for measuring adaptive behavior in adults with mental retardation. It concludes that the advantages of the coverage of the main domains of adaptive behavior, their standardization, impressive psychometrics, and brevity are becoming outweighed by…

  14. The Effect of 8 Weeks Aerobic Training on the Social Adjustment in Mentally Retarded Children with Hemiplegic Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Zahra Pooraghaei Ardakani

    2015-10-01

    Full Text Available One of the most important and basic problems in mentally retarded children which can form the basis of their behavior is impairment in social adjustment and performance. The purpose of the present work was to study the effect of 8 weeks aerobic training on the social adjustment in mentally retarded children with hemiplegic cerebral palsy. The statistical population included all mentally retarded children with hemiplegic cerebral palsy in District 1 of Tehran who were under the coverage of Exceptional Education Organization in 2013-2014 academic year. Among 38 mentally retarded children, 24 (with a mean age of 9±2 years were randomly selected and divided into two groups: experimental and the control groups. To assess the social adjustment, Vineland Adjustment Behavior Scale (VABS (1984 was used. Quasi-experimental method with pretest and posttest design and a control group was used for this research. The findings showed that 8 weeks aerobic exercises could increase the social adjustment in children with hemiplegic cerebral palsy (P≤0.001. Finally, it can be concluded that aerobic exercises have a positive impact on the social adjustment in children with hemiplegic cerebral palsy by increasing their communication with peers.

  15. 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…

  16. Where Is the Phonics? A Review of the Literature on the Use of Phonetic Analysis with Students with Mental Retardation

    Science.gov (United States)

    Joseph, L.M.; Seery, M.E.

    2004-01-01

    The purpose of this article is to review studies conducted in the last 12 years that consisted of examining the use of phonetic analysis strategies and/or phonics instruction with students with mental retardation. We conducted computer databased searches and a manual search of 15 journals published from 1990 to 2002. Only 7 studies emerged that…

  17. ECT use delayed in the presence of comorbid mental retardation: a review of clinical and ethical issues.

    Science.gov (United States)

    Little, John D; McFarlane, Jo; Ducharme, H M

    2002-12-01

    The objective is to develop a clinically and ethically supportive literature for the use of electroconvulsive therapy (ECT) in patients with mental retardation who are concurrently experiencing a significant psychiatric illness. A review of both the clinical and ethical literature using traditional, manual library methods and the Medline and Psychlit databases was undertaken. In addition, a record of all patients who had undergone ECT at our facility between 1995 and 2000 was examined for patients with comorbid mental retardation. We found that the use of ECT for people who have both a psychiatric illness and comorbid mental retardation was significantly delayed. However, a rapid response to index, continuation, and maintenance ECT was also noted. Further, this response occurred with routine ECT administered irrespective of age, gender, diagnosis, stimulus parameters, electrode placement, or number of treatments. In addition, the successful use of right-sided unilateral ECT at six times the initial seizure threshold was reported in a patient who had previously responded to bilateral ECT. A cogent ethical justification was developed with the use of the rule of double effect. We concluded that for patients who have mental retardation and who subsequently develop a psychiatric illness, ECT is delayed and left as a treatment of last choice. Although the literature is sparse and uncontrolled, a cogent clinical and ethical justification may help negotiate these and other delays.

  18. Peculiarities of cognitive functions in urban children with mental retardation in relation to the chemical elements content in a hair

    Directory of Open Access Journals (Sweden)

    Yevstafyeva E.V.

    2012-06-01

    Full Text Available

    In 30 children in the age of 12,8±0,3 with mental retardation and 30 healthy children of the same age an element balance of organism and state of cognitive functions were related. The content of elements (Ca, Fe, Mn, Mo, Ni, Sr, Pb in the hair was determined by a method of X-ray fuorescent spectroscopy. The content of Ca, Ni and Mn in 55 % of children and the defciency of Fe in 21 % of children with mental retardation were established. The defciency of Ca, Fe and Mn of healthy children was displayed. The value of Sr and Pb in organism in children of booth group was normal. The content of Mo in hair in 40 % of children with mental retardation and in 30 % of children of a check-group were established. The relationship between the content of chemical elements in organisms and state of cognitive functions was analyzed by non-parametric analysis by Spearmen. The excess of Ni in organism of children with mental retardation and defciency of Fe in organism of children in booth groups negatively infuenced the characteristics of cognitive functions (0,34

  19. Basic Skills and Activities Compendium. Instructional Objectives and Matching Activities for Working with Severely and Profoundly Mentally Retarded Children.

    Science.gov (United States)

    City Univ. of New York, NY. Center for Advanced Study in Education.

    The kit contains instructional objectives and matching activities for working with severely and profoundly mentally retarded children. Activities are classified into three color coded skill areas - sensory stimulation, motor development, and language development. Each card includes the name of the activity, objectives, and step-by-step procedures.…

  20. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    Directory of Open Access Journals (Sweden)

    Martínez F

    2007-11-01

    Full Text Available Abstract Background Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH, may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb, all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%. Conclusion This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

  1. The Training of Parents of Profoundly and Severely Mentally Retarded Children in Handling Behavior at Home. Final Report.

    Science.gov (United States)

    Blumberg, Allen

    Described is a project in which parents of profoundly and severely mentally retarded children were taught techniques of operant conditioning to be used in training their children in self help skills such as feeding, toileting, and dressing, with the end goal of reducing the anxiety level of parents. Involved were 25 parents whose children were on…

  2. The Application of a Multiple Measurement Approach to Investigate the Effects of a Dance Program on Educable Mentally Retarded Adolescents.

    Science.gov (United States)

    Crain, Cindy; And Others

    1984-01-01

    A multiple measurement approach with eight measurements was used to answer research questions regarding physical and social effects that occur when educable mentally retarded adolescents were exposed to a 10-week dance program. This approach was found to be useful for identifying multiple effects and generating hypotheses for further study.…

  3. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

    NARCIS (Netherlands)

    Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R.; Vries, B. de; Bokhoven, J.H.L.M. van; Esch, H. van; Frints, S.G.; Froyen, G.; Fryns, J.P.; Raynaud, M.; Moizard, M.P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; Portes, V. des; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A.W.; Tzschach, A.; Jensen, L.R.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.; Hamel, B.C.J.

    2007-01-01

    The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 known and candidate XLMR

  4. Constant Time Delay and Interspersal of Known Items To Teach Sight Words to Students with Mental Retardation and Learning Disabilities.

    Science.gov (United States)

    Knight, Melissa G.; Ross, Denise E.; Taylor, Ronald L.; Ramasamy, Rangasamy

    2003-01-01

    This study compared efficacy and efficiency of constant time delay and interspersal of known items to teach sight words to four students with mild mental retardation and learning disabilities. Results support effectiveness of constant time delay and suggest that interspersal of known items was more effective with students with learning…

  5. The Effect of a Constant Time Delay Procedure on Teaching an Adult with Severe Mental Retardation a Recreation Bowling Skill

    Science.gov (United States)

    Zhang, Jiabei; Cote, Bridget; Chen, Shihui; Liu, John

    2004-01-01

    The purpose of this study was to examine the effect of a constant time delay (CTD) procedure on teaching a recreational bowling skill to a 39-year-old male with severe mental retardation. The CTD procedure used 5 seconds as delay interval, task direction as target stimulus, physical assistance as controlling prompt, and oral praise as reinforcer.…

  6. Effectiveness of Constant Time Delay on Teaching Snack and Drink Preparation Skills to Children with Mental Retardation

    Science.gov (United States)

    Bozkurt, Funda; Gursel, Oguz

    2005-01-01

    A multiple probe design with probe conditions across behaviors was used to evaluate effectiveness of constant time delay on teaching snack and drink preparation skills to children with mental retardation. In addition, generalization effects across settings, time, and materials, and maintenance effects were examined. Three students between the ages…

  7. Treatment of Primary Enuresis in a Mentally Retarded Adult: The Need to Supplement the Bell and Pad Procedure.

    Science.gov (United States)

    Radler, Gary A.; And Others

    1982-01-01

    Bell and pad intervention to treat enuresis in a 21-year-old mildly mentally retarded male is reported. Enuresis was not significantly reduced after 22 weeks of standard bell and pad treatment. Therapist involvement in the program was deemphasized to offset the possibility that therapist visits were reinforcing wet nights. (Author/SW)

  8. Treatment of Chronic Breath-Holding in an Adult with Severe Mental Retardation: A Clinical Case Study

    Science.gov (United States)

    Reed, Derek D.; Martens, Brian K.

    2008-01-01

    We describe a clinical case study surrounding the behavioral assessment and operant treatment of, an adult with severe mental retardation who engaged in chronic breath-holding. In this clinical case, previous neurological and medical testing had ruled out biological bases for the individual's breath-holding. A functional behavioral assessment…

  9. Review of the Role of Two Antilibidinal Drugs in the Treatment of Sex Offenders with Mental Retardation.

    Science.gov (United States)

    Cooper, A. J.

    1995-01-01

    This paper reviews the efficacy, cautions, side effects, and modes of action of two antiandrogens (medroxyprogesterone acetate and cyproterone acetate) in treating individuals with mental retardation who have engaged in offensive sexual behavior. Ethical and medico-legal issues are also discussed. (Author/JDD)

  10. Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

    Science.gov (United States)

    Forzano, F; Faravelli, F; Loy, A; Di Rocco, M

    2002-07-22

    We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome.

  11. 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…

  12. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

    NARCIS (Netherlands)

    Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, CE; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Tuy, FPD; van Bokhoven, H; Fryns, JP; Chelly, J; Ropers, HH; Moraine, C; Hamel, BCJ; Briault, S

    2005-01-01

    Truncating mutations were found in the PHF8 gene ( encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/ palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the

  13. The MMPI-168(L) and ADD in assessing psychopathology in individuals with mental retardation : between and within instrument associations

    NARCIS (Netherlands)

    McDaniel, WF; Passmore, CE; Sewell, HM

    2003-01-01

    An abbreviated version of the Minnesota Multiphasic Personality Inventory, the MMPI-168(L), modified for use with clients who have moderate or mild mental retardation, was administered to 58 clients, most of whom had co-existing dual psychiatric diagnoses. Another recently developed instrument, the

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

    Science.gov (United States)

    Sadrossadat, Leyla; Moghaddami, Alireza; Sadrossadat, Seyyed Jalal

    2010-01-01

    Because of the importance of adaptive behaviors in social and domestic lives, this study aimed at a comparison of various domains of adaptive behaviors, between mentally retarded and normal individuals. A number of 246 normal and 74 mentally retarded individuals (7-18 years of age, mean: 12±3.5 years), participated this study in Tehran, 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 translated into Persian by the professionals and then retranslated into English by another translator, to ensure content non-distortion. THE FOLLOWING DOMAINS WERE SIGNIFICANTLY LOWER IN MENTALLY RETARDED THAN IN NORMAL INDIVIDUALS: independent functioning, economic activity, 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 documented in the physical development, stereotype & hyperactive behaviors, sexual behavior as well as self abuse behavior domains, between the two groups. As mentally deficient subjects did worse than normal ones in terms of many adaptive behavioral domains, it implies that the adaptive behavioral issues in such people might need a great deal of attention and intervention. For these retarded people to function better in their social and residential environment, it would be necessary to develop their adaptive behaviors. This study may shed light on the importance of attention to the adaptive behavioral domains of mentally retarded people and also indicates the necessity of preventive measures, even for normal individuals.

  15. A comparison of adaptive behaviors among mentally retarded and normal individuals: A guide to prevention and treatment

    Directory of Open Access Journals (Sweden)

    Leyla Sadrossadat

    2010-01-01

    Full Text Available Objectives: Because of the importance of adaptive behaviors in social and domestic lives, this study aimed at a comparison of various domains of adaptive behaviors, between mentally retarded and normal individuals. Methods: A number of 246 normal and 74 mentally retarded in-dividuals (7-18 years of age, mean: 12±3.5 years, participated this study in Tehran, Iran. Their adaptive behaviors scores, were ob-tained using "Adaptive Behavioral Scale, Residential & Commu-nity" (ABS-RC: 2, consisting of 18 domains of behavior. The scale was first translated into Persian by the professionals and then re-translated into English by another translator, to ensure content non-distortion. Results: The following domains were significantly lower in men-tally retarded than in normal individuals: independent function-ing, economic activity, 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 documented in the physical development, stereo-type & hyperactive behaviors, sexual behavior as well as self abuse behavior domains, between the two groups. Conclusions: As mentally deficient subjects did worse than nor-mal ones in terms of many adaptive behavioral domains, it implies that the adaptive behavioral issues in such people might need a great deal of attention and intervention. For these retarded people to function better in their social and residential environment, it would be necessary to develop their adaptive behaviors. This study may shed light on the importance of attention to the adap-tive behavioral domains of mentally retarded people and also indi-cates the necessity of preventive measures, even for normal indi-viduals.

  16. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

    Science.gov (United States)

    Feng, Aiping; Dai, Xiaohua; Wang, Xiaoran; Gao, Yong; Luo, Ruili; Li, Yulei; Zhang, Na; Liu, Jingyu

    2011-08-01

    Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age. Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy, clinical features of mental retardation and mild facial and pinkie anomalies. In the family 1, we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis. Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171, an interval of about 2.9 Mb on 9p21.3, and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446, a region of about 1.5 Mb on 21q22.3. In the family 2, a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter, and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother. Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33. Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family. These results further implicate that trisomy 9p is associated with mental retardation, and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly. This result has been applied successfully in prenatal diagnosis of the second family.

  17. Detection and validation of copy number variation in X-linked mental retardation.

    Science.gov (United States)

    Bauters, M; Weuts, A; Vandewalle, J; Nevelsteen, J; Marynen, P; Van Esch, H; Froyen, G

    2008-01-01

    Studies to identify the genetic defects associated with X-linked mental retardation (XLMR) in males have revealed tens of genes important for normal brain development and cognitive functioning in men. Despite extensive efforts in breakpoint cloning of chromosomal rearrangements and mutation screening of candidate genes on the X chromosome, still many XLMR families and sporadic cases remain unsolved. It is now clear that submicroscopic copy number changes on the X chromosome can explain about 5% of these idiopathic cases. Interestingly, beside gene deletions, an increase in gene dosage due to genomic duplications seems to contribute to causality more often than expected. Since larger duplications on the X chromosome are tolerated compared to deletions, they often harbour more than one gene hampering the identification of the causal gene. In contrast to copy number variations (CNVs) on autosomes, most disease-associated CNVs on the X chromosome in males are inherited from their mothers who normally do not present with any clinical symptoms due to non-random X inactivation. Here, we review the different methods applied to study copy number alterations on the X chromosome in patients with cognitive impairment, discuss those CNVs that are associated with disease and elaborate on the genes and mechanisms involved. At the end, we will resume in vivo assays to study the relation of CNVs on the X chromosome and mental disability.

  18. Overestimation of mentally retarded persons' IQs using the PPVT: a re-analysis and some implications for future research.

    Science.gov (United States)

    Facon, B; Bollengier, T; Grubar, J C

    1993-08-01

    Numerous validity studies have shown that the PPVT consistently overestimates mentally retarded persons' IQs. One possible interpretation is that this phenomenon is an outcome of the dissociation between their cognitive level and their experience. Indeed, compared to intellectually average subjects of the same mental age, they have had more learning opportunities, simply because they have lived longer. In order to validate this hypothesis, the French version of the PPVT, Raven's Coloured Progressive Matrices (RCPM), and the 1966 version of the Binet-Simon were administered to 90 subjects of various chronological ages matched on mental age (30 nonretarded 5 year olds and two groups of 30 retarded subjects aged 10 and 16 years, respectively). The results indicate that CA exerts a strong effect on vocabulary, but not on RCPM performance. The research implications of this finding are discussed.

  19. STDP and Mental Retardation: Dysregulation of Dendritic Excitability in Fragile X Syndrome.

    Science.gov (United States)

    Meredith, Rhiannon M; Mansvelder, Huibert D

    2010-01-01

    Development of cognitive function requires the formation and refinement of synaptic networks of neurons in the brain. Morphological abnormalities of synaptic spines occur throughout the brain in a wide variety of syndromic and non-syndromic disorders of mental retardation (MR). In both neurons from human post-mortem tissue and mouse models of retardation, the changes observed in synaptic spine and dendritic morphology can be subtle, in the range of 10-20% alterations for spine protrusion length and density. Functionally, synapses in hippocampus and cortex show deficits in long-term potentiation (LTP) and long-term depression (LTD) in an array of neurodevelopmental disorders including Down's, Angelman, Fragile X and Rett syndrome. Recent studies have shown that in principle the machinery for synaptic plasticity is in place in these synapses, but that significant alterations in spike-timing-dependent plasticity (STDP) induction rules exist in cortical synaptic pathways of Fragile X MR syndrome. In this model, the threshold for inducing timing-dependent long-term potentiation (tLTP) is increased in these synapses. Increased postsynaptic activity can overcome this threshold and induce normal levels of tLTP. In this review, we bring together recent studies investigating STDP in neurodevelopmental learning disorders using Fragile X syndrome as a model and we argue that alterations in dendritic excitability underlie deficits seen in STDP. Known and candidate dendritic mechanisms that may underlie the plasticity deficits are discussed. Studying STDP in monogenic MR syndromes with clear deficits in information processing at the cognitive level also provides the field with an opportunity to make direct links between cognition and processing rules at the synapse during development.

  20. Zfrp8 forms a complex with fragile-X mental retardation protein and regulates its localization and function.

    Science.gov (United States)

    Tan, William; Schauder, Curtis; Naryshkina, Tatyana; Minakhina, Svetlana; Steward, Ruth

    2016-02-15

    Fragile-X syndrome is the most commonly inherited cause of autism and mental disabilities. The Fmr1 (Fragile-X Mental Retardation 1) gene is essential in humans and Drosophila for the maintenance of neural stem cells, and Fmr1 loss results in neurological and reproductive developmental defects in humans and flies. FMRP (Fragile-X Mental Retardation Protein) is a nucleo-cytoplasmic shuttling protein, involved in mRNA silencing and translational repression. Both Zfrp8 and Fmr1 have essential functions in the Drosophila ovary. In this study, we identified FMRP, Nufip (Nuclear Fragile-X Mental Retardation Protein-interacting Protein) and Tral (Trailer Hitch) as components of a Zfrp8 protein complex. We show that Zfrp8 is required in the nucleus, and controls localization of FMRP in the cytoplasm. In addition, we demonstrate that Zfrp8 genetically interacts with Fmr1 and tral in an antagonistic manner. Zfrp8 and FMRP both control heterochromatin packaging, also in opposite ways. We propose that Zfrp8 functions as a chaperone, controlling protein complexes involved in RNA processing in the nucleus.

  1. Incidence of mental retardation as compared with other psychiatric disorders and necessary support to persons placed at the Public Institution for Placement of Persons with Mental Disabilities "Drin" Fojnica, Bosnia and Herzegovina.

    Science.gov (United States)

    Bjelošević, Edin; Karahmet, Amar; Hadžikapetanović, Halima; Bjelošević, Sonja

    2016-08-01

    Aim To compare the frequency of mental retardation with other psychiatric disorders at the Institute for Mentally Disabled Persons "Drin" Fojnica, Bosnia and Herzegovina, to asses psychosocial condition and necessary support to persons with mental retardation. Methods In this retrospective, descriptive and epidemiologic study neuropsychiatric findings and reports of the Institute's social services of 527 residents (beneficiaries) were analyzed in the period 2013-2014 (age, gender, mobility, years of life spent in the Institute, visits of family members and close relatives, visits to families, mental retardation - degree, required support). Results The research included 213 (40.42%) women and 314 (59.58%) men. The average age was 39.64 years. The average number of years spent in the Institute was 10.42.Fifty-four 25.47%) examinees with mental retardation had occasional visits to their families, while 69 (32.54%) had regular visits. Thirty-four (16.04%) examinees had mild mental retardation, 70 (33.02%) had moderate retardation, 52 (24.52%) were with severe, and 56(26.42%) with profound retardation. It was found that 66 (31.13%)beneficiaries with the diagnosis of mental retardation completely depended on other persons. Conclusion The degree of mental retardation has a direct impact on the process of resocialization. A very small number of people diagnosed with mental retardation had been successfully involved in the process of resocialization. It is necessary work intensively on thecreation of conditions for the realization of the Independent Living Support program, thus making a step forward to deinstitutionalization. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.

  2. TEACHING THE SOCIAL SKILLS TO THE MENTALLY RETARDED STUDENTS THROUGH DIRECT INSTRUCTION APPROACH

    Directory of Open Access Journals (Sweden)

    Serpil ALPTEKİN

    2012-03-01

    Full Text Available Social skills are the most crucial and functional abilities for the individuals to perform the acts required by the social norms and to live effectively and independently in the society (Dağseven 2008, 1; Cartledge ve Milburn 1986, 14. In daily life, it is fairly important to teach social skills since they cover the behaviors enabling the individual to build relationships with others, satisfy the expectations of the environment where he lives, express his needs, wills, desires, preferences in an appropriate way (Putnam vd. 1996, 742; McLane 1998, 16; Allsop vd. 2000, 141; Goldstein vd. 2002, 5; Bremer ve Smith 2004, 1; Siperstein ve Rickards 2004, 76. In school environments, social skills training is of importance for the enable students to greet each other in the school bus, play with their peers, build and maintain good relationships with each other and the personnel (McLane 1998, 16. Social skills gained by the students who are mentally handicapped positively affect not only the relationships with the people around them but also the ability of orientation to the school and acceptance by their peers. Also, social skill training makes it easy to get a job, to be a member of the society and rise above the difficulties encountered in the coming years of their lives during the transition period from studentship to the adulthood (McLane 1998, 16; Goldstein vd. 2002, 5. Furthermore, the fact that the mentally retarded students gain social skills increases the school achievement by positively affecting their academic development (Gresham ve Elliot 1989, 120; Bremer ve Smith 2004, 1; Siperstein ve Rickards 2004, 76. Since the mentally handicapped students do not have social skills, it is observed that they are not socially accepted by their peers in their educational environments. Therefore, teaching social skills to the mentally retarded students in their educational environments will increase their acceptance by their peers (Gresham ve Elliot 1989

  3. 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.

  4. The potential use of CO2-laser gingivectomy for phenytoin-induced gingival hyperplasia in mentally retarded patients.

    Science.gov (United States)

    Roed-Petersen, B

    1993-11-01

    Patients with hyperplastic states of the gingiva, i.e., phenytoin hyperplasia, nifedipine hyperplasia, cyclosporin hyperplasia, gingival fibromatosis and others may be treated by laser gingivectomy as no bone surgery is involved in these cases. Patients who are mentally retarded may represent special care problems postoperatively after conventional surgical gingivectomy i.e., unintentional removal of surgical dressing, postoperative bleeding etc. Therefore, the potential use of CO2-laser gingivectomy for mentally retarded persons was evaluated in a prospective study comprising 15 patients with fenytoin hyperplasia of the gingiva. No intra- or postoperative bleeding occurred and no surgical dressing was applied. The majority of the patients did not need any analgesics postoperatively. Healing was uncomplicated and the time needed for healing was of the same order of magnitude as after surgical gingivectomy.

  5. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

    Science.gov (United States)

    Papa, Filomena Tiziana; Mencarelli, Maria Antonietta; Caselli, Rossella; Katzaki, Eleni; Sampieri, Katia; Meloni, Ilaria; Ariani, Francesca; Longo, Ilaria; Maggio, Angela; Balestri, Paolo; Grosso, Salvatore; Farnetani, Maria Angela; Berardi, Rosario; Mari, Francesca; Renieri, Alessandra

    2008-08-01

    The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. Copyright 2008 Wiley-Liss, Inc.

  6. The Stage- and Cell Type-Specific Localization of Fragile X Mental Retardation Protein in Rat Ovaries.

    Science.gov (United States)

    Takahashi, Noriyuki; Tarumi, Wataru; Itoh, Masanori T; Ishizuka, Bunpei

    2015-12-01

    Premutations of the fragile X mental retardation 1 (FMR1) gene are associated with increased risk of primary ovarian insufficiency. Here we examined the localization of the Fmr1 gene protein product, fragile X mental retardation protein (FMRP), in rat ovaries at different stages, including fetus, neonate, and old age. In ovaries dissected from 19 days postcoitum embryos, the germ cells were divided into 2 types: one with decondensed chromatin in the nucleus was FMRP positive in the cytoplasm, but the other with strongly condensed chromatin in the nucleus was FMRP negative in the cytoplasm. The FMRP was predominantly localized to the cytoplasm of oocytes in growing ovarian follicles. Levels of FMRP in oocytes from elderly (9 or 14 months of age) ovaries were lower than in those from younger ovaries. These results suggest that FMRP is associated with the activation of oogenesis and oocyte function. Especially, FMRP is likely to be implicated in germline development during oogenesis.

  7. Autistic children's use of semantic common sense and theory of mind: a comparison with typical and mentally retarded children.

    Science.gov (United States)

    Naito, Mika; Nagayama, Kikuo

    2004-10-01

    To compare Japanese autistic children's use of semantic knowledge and theory of mind with mentally retarded and typically developing children's, they were tested on their comprehension of active and passive sentences and false belief understanding. Autistic children were sensitive to plausibility levels of semantic bias as were 4-year-olds with typical development when comprehending sentences, although impaired in belief understanding as compared with mentally retarded children and typically developing 5-year-olds. Children's sentence comprehension had no association with belief understanding. Results suggest that autistic children with certain verbal intelligence can utilize semantic common sense to comprehend sentences as can typically developing children and that the ability to comprehend sentences is relatively independent of theory of mind.

  8. Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.

    Science.gov (United States)

    Mabboux, P; Brisset, S; Aboura, A; Pineau, D; Koubi, V; Joannidis, S; Labrune, P; Tachdjian, G

    2007-04-01

    Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.

  9. Validity of the Stanford-Binet Intelligence Scale-IV: its use in young adults with mental retardation.

    Science.gov (United States)

    Nelson, W M; Dacey, C M

    1999-08-01

    The validity of the Stanford Binet-IV (SB-IV) was assessed. This test and the WAIS-R and WRAT-R were administered to 42 adults previously classified with mild to moderate mental retardation. Validity coefficients between scores on the SB-IV and the other two measures were significant. The mean IQ on the SB-IV (mean Test Composite = 43.26) was significantly lower than that on the Wechsler Adult Intelligence Scale-Revised--WAIS-R (mean Full-Scale IQ = 57.91). With regard to the internal validity of the SB-IV, the intersubtest relationships of each of the four Area scores correlated significantly with the Test Composite (range = .66 to .91). Verbal Reasoning earned the highest correlation (.91). Results support the SB-IV's concurrent, criterion-related, and internal validity for use with young adults who have mental retardation.

  10. Conformational-Dependent and Independent RNA Binding to the Fragile X Mental Retardation Protein

    Directory of Open Access Journals (Sweden)

    Xin Yan

    2011-01-01

    Full Text Available The interaction between the fragile X mental retardation protein (FMRP and BC1 RNA has been the subject of controversy. We probed the parameters of RNA binding to FMRP in several ways. Nondenaturing agarose gel analysis showed that BC1 RNA transcripts produced by in vitro transcription contain a population of conformers, which can be modulated by preannealing. Accordingly, FMRP differentially binds to the annealed and unannealed conformer populations. Using partial RNase digestion, we demonstrate that annealed BC1 RNA contains a unique conformer that FMRP likely binds. We further demonstrate that this interaction is 100-fold weaker than that the binding of eEF-1A mRNA and FMRP, and that preannealing is not a general requirement for FMRP's interaction with RNA. In addition, binding does not require the N-terminal 204 amino acids of FMRP, methylated arginine residues and can be recapitulated by both fragile X paralogs. Altogether, our data continue to support a model in which BC1 RNA functions independently of FMRP.

  11. Similarities in the detection of stimulus symmetry by individuals with and without mental retardation.

    Science.gov (United States)

    Carlin, M T; Soraci, S A

    1993-11-01

    Intelligence-related differences in the detection of stimulus organization previously identified by Soraci, Carlin, Deckner, and Baumeister (1990) were examined further to determine whether they would (a) extend to similar checkerboard stimuli varying solely with respect to symmetry and (b) generalize to form-like polygon stimuli. Detection performances of 10 individuals with mild mental retardation, 10 CA-matched, and 10 MA-matched individuals were assessed on a rapid presentation a two-choice match-to-sample task. The organizations of the target and distractor stimuli were varied across four levels of symmetry: double, vertical, horizontal, and asymmetrical. Results indicated that detection rates for each group were highest when the target stimulus was vertically symmetrical or when target-distractor structural disparity was maximal. However, no significant main effects of subject group or stimulus type (i.e., checkerboard vs. polygon) were found, thereby arguing for the robustness of the symmetry effect across groups differing in intelligence and physically dissimilar stimulus types.

  12. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. 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.

  15. Psychosocial effects on siblings of children with autism and mental retardation: a population-based study.

    Science.gov (United States)

    Bågenholm, A; Gillberg, C

    1991-08-01

    The probands of this study were 60 children and young adults between 5 and 20 years of age, 20 of whom had siblings with autism, 20 of whom had siblings with mental retardation, and 20 of whom had siblings who were free of handicap. The three proband groups were matched for gender, birth order and socioeconomic status. The children were questioned about their sibling relationships and about particular problems they faced concerning their handicapped brothers or sisters and about problems concerning themselves. Parents were interviewed about the healthy child's behaviour and social adjustment. Mothers completed the Eysenck Personality Inventory concerning themselves. Siblings of handicapped children and especially siblings of children with autism were more concerned about the future. They also felt lonely more often and many of them had peer problems. They often regarded their handicapped siblings as a burden. They tended to have only one sibling. Siblings often did not know why their handicapped brother or sister was different from other children. There were more behaviour disturbances in the siblings of handicapped children and mothers with a child with autism reported more 'stressful events'. There were no differences as regards the personality of the mothers and the self-concept of the children between the three groups.

  16. Altered Translational Control of Fragile X Mental Retardation Protein on Myelin Proteins in Neuropsychiatric Disorders.

    Science.gov (United States)

    Jeon, Se Jin; Ryu, Jong Hoon; Bahn, Geon Ho

    2017-05-01

    Myelin is a specialized structure of the nervous system that both enhances electrical conductance and insulates neurons from external risk factors. In the central nervous system, polarized oligodendrocytes form myelin by wrapping processes in a spiral pattern around neuronal axons through myelin-related gene regulation. Since these events occur at a distance from the cell body, post-transcriptional control of gene expression has strategic advantage to fine-tune the overall regulation of protein contents in situ. Therefore, many research interests have been focused to identify RNA binding proteins and their regulatory mechanism in myelinating compartments. Fragile X mental retardation protein (FMRP) is one such RNA binding protein, regulating its target expression by translational control. Although the majority of works on FMRP have been performed in neurons, it is also found in the developing or mature glial cells including oligodendrocytes, where its function is not well understood. Here, we will review evidences suggesting abnormal translational regulation of myelin proteins with accompanying white matter problem and neurological deficits in fragile X syndrome, which can have wider mechanistic and pathological implication in many other neurological and psychiatric disorders.

  17. Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.

    Science.gov (United States)

    Peippo, Maarit; Valanne, Leena; Perhomaa, Marja; Toivanen, Leena; Ignatius, Jaakko

    2009-11-01

    In 1954, Weismann-Netter and Stuhl described three sporadic adults and a mother and her three children with short stature and congenital anterior bowing of lower legs [Weismann-Netter and Stuhl (1954); Presse Méd 62:1618-1622]. They named the condition "toxopachyostéose diaphysaire tibio-péronière," which presently is known as Weismann-Netter syndrome (WNS) (OMIM 112350). Since then more than 100 patients have been published. Nearly all have been case reports in French medical literature, and the first report in the Anglo-American literature appeared in 1988. Only a minority of the publications have appeared during the past two decades. The diagnostic findings of WNS are anterior bowing of the diaphyses of tibia and fibula, broadening or "tibialization" of the fibula and posterior cortical thickening of the two bones. Also the diaphyses of other long bones may be similarly affected but usually to a milder degree. The cause of the condition is unknown, but frequent familial cases suggest a genetic defect with autosomal dominant inheritance. Several of the WNS patients have also had mental retardation (MR), but the existence of a WNS-MR syndrome is still pending. We describe a sporadic patient with typical WNS skeletal findings and MR. He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature. Copyright 2009 Wiley-Liss, Inc.

  18. Identification of feigned mental retardation using the new generation of malingering detection instruments: preliminary findings.

    Science.gov (United States)

    Graue, Lili O; Berry, David T R; Clark, Jessica A; Sollman, Myriam J; Cardi, Michelle; Hopkins, Jaclyn; Werline, Dellynda

    2007-12-01

    A recent Supreme Court decision--Atkins v. Virginia, 536 U.S. 304 (2002)--prohibiting the execution of mentally retarded (MR) defendants may have raised the attractiveness of feigning this condition in the criminal justice system. Unfortunately, very few published studies have addressed the detection of feigned MR. The present report compared results from tests of intelligence, psychiatric feigning, and neurocognitive faking in a group of 26 mild MR participants (MR) and 25 demographically matched community volunteers asked to feign MR (CVM). Results showed that the CVM suppressed their IQ scores to approximate closely the level of MR participants. WAIS-III and psychiatric malingering measures were relatively ineffective at discriminating feigned from genuine MR. Although neurocognitive malingering tests were more accurate, their reduced specificity in MR participants was of potential concern. Revised cutting scores, set to maintain a Specificity rate of about .95 in MR clients, were identified, although they require cross-validation. Overall, these results suggest that new cutting scores will likely need to be validated to detect feigned MR using current malingering instruments.

  19. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

    Science.gov (United States)

    Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Seidel, Jörg; Thamm-Mücke, Barbara; Horn, Denise; Klopocki, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas

    2010-02-01

    The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified apparent recurrent breakage sites in the proximal and distal breakpoint regions. Two of the four patients displayed more complex rearrangements. Patient 2 was endowed with a quadruplicated segment and a small triplication within the duplication, whereas patient 3 displayed two triplicated segments within the duplication, supporting that the Fork Stalling and Template Switching (FoSTeS) model may explain a subset of the structural rearrangements in Xq28. Clinically, muscular hypertonia and contractures of large joints may present a major problem in children with MRXSL. Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures.

  20. 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.

  1. INFLUENCE OF ACUPUNCTURE ("JIN'S SAN ZHEN") ON BRAINSTEM EVOKED POTENTIALS IN MENTAL RETARDATION CHILDREN

    Institute of Scientific and Technical Information of China (English)

    YUAN Qing; MA Ruiling; JIN Rui

    2002-01-01

    Objective: To investigate the effect of acupuncture ("JIN's San Zhen") on infantile mental retardation (MR) .Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to control group.P3(event-related potential) and brainstem evoked potentials were used as the indexes. Acupoints "Si-shen Zhen","Head Zhi San Zhen", "Hand Zhi San Zhen", "Foot Zhi San Zhen" were punctured with filiform needles, and stimulated by manipulating the needle once every 5 minutes with uniform reinforcing-reducing method. The treatment was conducted once daily, 6 times every week, with 4 months being a therapeutic course. Results: In comparison with normal children, the latency of P3 was longer and its amplitude lower in MR children. After 4 months' acupuncture treatment,the latency was shortened and the amplitude increased significantly in comparison with pre-treatment ( P<0.01,0.05). Results of the total inteiiigence quotient (TIQ) evaluation showed a 70.3% coincidence rate compared with improvement of P3. Conclusion: Changes of P3 and BAEP(brain auditory evoked potential) after acupuncture treatment may be related to the effect of "JIN's San Zhen" in bettering clinical symptoms and signs of MR infantile patients.

  2. [Idiopathic mental retardation--importance of clinical diagnostic scores for case selection].

    Science.gov (United States)

    Caba, Lavinia; Rusu, Cristina; Voloşciuc, M; Butnariu, Lăcrămioara; Braha, Elena; Grămescu, Mihaela; Bujoran, C; Gorduza, E V; Covic, M

    2009-01-01

    We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of chromosomal abnormalities in mentally retarded (MR) children. We have used the score to identify patients who should be tested by karyotyping and subsequently MLPA (multiplex ligation dependent probe amplification) for subtelomeric rearrangements. Our group is formed of 36 children with variable MR associated with other anomalies. 18 children had chromosomal defects, whereas 18 had normal karyotypes. In the first group, total scores varied between 3 and 7. Chromosomal anomalies identified were: numerical (4) and structural (14). Chromosomes involved were: 1, 4, 5, 7, 8, 9, 17, X. Deletions were the most common and correlate with a greater score (> or = 4). Common clinical features were: short stature, microcephaly, nasal, ear and hand anomalies. In the second group the most frequent clinical feature was hand anomaly (61.2%) and cases with a high score have to be further tested (e.g. using MLPA) in order to identify minor defects. In our opinion a high score indicates the karyotype and then a MLPA testing. In conclusion, we present a retrospective study that proves the use of de Vries diagnostic score in the identification of chromosomal abnormalities in MR children.

  3. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

    OpenAIRE

    Guilmatre, Audrey; Dubourg, Christèle; Mosca, Anne-Laure; Legallic, Solenn; Goldenberg, Alice; Drouin-Garraud, Valérie; Layet, Valérie; Rosier, Antoine; Briault, Sylvain; Bonnet-Brilhault, Frédérique; Laumonnier, Frédéric; Odent, Sylvie; Le Vacon, Gael; Joly-Helas, Géraldine; David, Véronique

    2009-01-01

    International audience; CONTEXT: Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrum disorders, and schizophrenia. OBJECTIVES: To provide an estimate of the collective frequency of a set of recurrent or overlapping CNVs in 3 different groups of cases compared with healthy control subjects and to assess whether each CNV is present in more than 1 clinical cat...

  4. Topiramate-induced hyperammonemic encephalopathy in a patient with mental retardation: A case report and review of the literature.

    Science.gov (United States)

    Tantikittichaikul, Sahawat; Johnson, Justine; Laengvejkal, Pavis; DeToledo, John

    2015-01-01

    Hyperammonemia is an uncommon side effect of topiramate (TPM) that has only been reported when it is used as an adjunct to valproate. We report a patient with mental retardation who developed reversible encephalopathy from TPM. Ammonia level was monitored during the course of TPM treatment. This patient had recurring, reversible elevations in serum ammonia levels that coincided with the administration of TPM. To our knowledge, symptomatic hyperammonemia has not been reported to occur with TPM monotherapy.

  5. SPECT abnormalities with unilateral arm dystonia in a young mentally retarded apprentice cook: contralateral thalamo-cortical dysfunction.

    Science.gov (United States)

    Hiraga, Akiyuki; Fukutake, Toshio; Arai, Kimihito; Kikkawa, Yuriko; Hattori, Takamichi

    2003-06-01

    We report a young, mentally retarded apprentice cook with a 2-month history of right upper extremity dystonia, for whom diazepam therapy was efficacious. We evaluated brain perfusion by single photon emission tomography (SPECT) before and after diazepam treatment. The abnormal hyperperfusion in the left thalamus and hypoperfusion in the left frontal cortex were normalized on the second SPECT under the successful diazepam treatment. These findings were indicative of functional changes in the left thalamus and left frontal cortex.

  6. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

    Science.gov (United States)

    Battini, Roberta; Chilosi, Anna; Mei, Davide; Casarano, Manuela; Alessandrì, M Grazia; Leuzzi, Vincenzo; Ferretti, Giovanni; Tosetti, Michela; Bianchi, M Cristina; Cioni, Giovanni

    2007-08-01

    We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age.

  7. Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

    Science.gov (United States)

    Turner, Gillian; Gedeon, Agi; Kerr, Bronwyn; Bennett, Rachael; Mulley, John; Partington, Michael

    2003-03-15

    An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.

  8. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

    Science.gov (United States)

    Sismani, Carolina; Syrrou, Maria; Christodoulou, Kyproula; Hamel, Ben; Chelly, Jamel; Yntema, Helger G; van Bokhoven, Hans; Tzoufi, Meropi; Georgiou, Ioannis; Patsalis, Philippos C

    2003-09-15

    Nonsyndromic X-linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12-Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at theta = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene.

  9. Fragile X mental retardation protein recognition of G quadruplex structure per se is sufficient for high affinity binding to RNA.

    Science.gov (United States)

    Bole, Medhavi; Menon, Lakshmi; Mihailescu, Mihaela-Rita

    2008-12-01

    Fragile X syndrome, the most common form of inherited mental retardation is caused by the expansion of a CGG trinucleotide repeat in the fragile X mental retardation 1 (fmr1) gene. The abnormal expansion of the CGG repeat causes hypermethylation and subsequent silencing of the fmr1 gene, resulting in the loss of the fragile X mental retardation protein (FMRP). FMRP has been shown to use its arginine-glycine-glycine rich region (RGG box) to bind to messenger RNAs that form G quadruplex structures. Several studies reported that the G quadruplex RNA recognition alone is not sufficient for FMRP RGG box binding and that an additional stem and/or a G quadruplex-stem junction region may also be important in recognition. In this study we have used biophysical methods such as fluorescence, UV, CD and NMR spectroscopy to demonstrate that the recognition of the RNA G quadruplex structure per se, in the absence of a stem region, is sufficient for the FMRP high affinity and specific binding. These findings indicate that the presence of a stem structure in some of the FMRP G quadruplex forming mRNAs is not a requirement for protein recognition as previously believed, but rather for the proper formation of the correct RNA G quadruplex structure recognized by FMRP.

  10. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without {alpha}-thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Villard, L.; Lossi, A.M.; Fontes, M. [and others

    1996-03-01

    We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked {alpha}-thalassemia with mental retardation (ATR-X) syndrome. The widespread expression and numerous domains present in the putative protein suggest that this gene could be involved in other phenotypes. The predominant expression of the gene in the developing brain, as well as its association with neuron differentiation, indicates that mutations of this gene might result in a mental retardation (MR) phenotype. In this paper we present a family with a splice junction mutation in XNP that results in the skipping of an exon and in the introduction of a stop codon in the middle of the XNP-coding sequence. Only the abnormal transcript is expressed in two first cousins presenting the classic ATR-X phenotype (with {alpha}-thalassemia and HbH inclusions). In a distant cousin presenting a similar dysmorphic MR phenotype but not having thalassemia, {approximately}30% of the XNP transcripts are normal. These data demonstrate that the mode of action of the XNP gene product on globin expression is distinct from its mode of action in brain development and facial morphogenesis and suggest that other dysmorphic mental retardation phenotypes, such as Juberg-Marsidi or some sporadic cases of Coffin-Lowry, could be due to mutations in XNP. 20 refs., 5 figs., 2 tabs.

  11. Multivariate analysis of dermatoglyphics of severe mental retardates: an application of the constellation graphical method for discriminant analysis.

    Directory of Open Access Journals (Sweden)

    Wakita,Yoshiharu

    1988-06-01

    Full Text Available We studied the dermatoglyphics of 353 severe mental retardates (excluding those with chromosomal abnormalities and major limb malformations, using multivariate analysis, to determine how early intrauterine factors are related to the etiology of mental retardation. First, dermatoglyphics were compared between 140 individuals with undefined prenatal factors and 700 normal controls. After 6 and 9 dermatoglyphic traits were chosen as discriminative variables for males and females, respectively, the data were subjected separately for each sex to the constellation graphical method for discriminant analysis. The same formula as obtained in the idiopathic group was subsequently applied to data from cases in other etiological categories. When the misclassification rate was 0.03, the rates of correct classification of the male patients into the etiological categories of undefined prenatal, defined prenatal, perinatal, postnatal and unknown (no anamnestic data available categories were 19.7% (13/66, 20.0% (3/15, 8.8% (5/57, 5.0% (1/20 and 7.7% (2/26, while the correct classification rates of females were 24.3% (18/74, 42.1% (8/19, 18.9% (7/37, 5.1% (1/16 and 13.0% (3/23, respectively. The results suggest that early intrauterine factors such as those producing dermatoglyphic deviations may contribute to the pathogenesis of severe mental retardation not only in patients with undefined prenatal etiological factors but also in those with perinatal factors, especially those of the female sex.

  12. Signaling of noncomprehension by children and adolescents with mental retardation: effects of problem type and speaker identity.

    Science.gov (United States)

    Abbeduto, L; Short-Meyerson, K; Benson, G; Dolish, J

    1997-02-01

    Previous research has demonstrated considerable within-individual and within-group variability in the signaling of noncomprehension by persons with mental retardation. The first purpose of this study was to determine whether within-individual variability in such signaling was related to differences in the nature of the inadequate message and the identity of the speaker. The second purpose was to evaluate the relationship between within-group variability in noncomprehension signaling and measures of cognition, receptive and excessive language ability, speech intelligibility, and social cognition. Participants were school-age individuals with mild mental retardation and typically developing children matched to them on nonverbal MA. Noncomprehension signaling was examined in a direction-following task in which inadequate message type and speaker were manipulated. It was found that message type, but not speaker, influenced noncomprehension signaling, with no difference between the two groups. We also found that performance on a test of receptive language ability was the best predictor of noncomprehension signaling for persons with mental retardation.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

    Directory of Open Access Journals (Sweden)

    Blue Mary

    2010-02-01

    Full Text Available Abstract Background Rett syndrome (RTT, a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT. When these same mutations occur in males, they often present as severe neonatal encephalopathy. However, some MECP2 mutations can also lead to diseases characterized as mental retardation syndromes, particularly in boys. One of these mutations, A140V, is a common, recurring missense mutation accounting for about 0.6% of all MeCP2 mutations and ranking 21st by frequency. It has been described in familial X-linked mental retardation (XLMR, PPM- X syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked mental retardation and in other neuropsychiatric syndromes. Interestingly, this mutation has been reported to preserve the methyl-CpG binding function of the MeCP2 protein while compromising its ability to bind to the mental retardation associated protein ATRX. Results We report the construction and initial characterization of a mouse model expressing the A140V MeCP2 mutation. These initial descriptive studies in male hemizygous mice have revealed brain abnormalities seen in both RTT and mental retardation. The abnormalities found include increases in cell packing density in the brain and a significant reduction in the complexity of neuronal dendritic branching. In contrast to some MeCP2 mutation mouse models, the A140V mouse has an apparently normal lifespan and normal weight gain patterns with no obvious seizures, tremors, breathing difficulties or kyphosis. Conclusion We have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms.

  15. Delivering home-based case management to families with children with mental retardation and developmental disabilities.

    Science.gov (United States)

    Ardito, M; Botuck, S; Freeman, S E; Levy, J M

    1997-01-01

    To meet the needs of individuals with mental retardation and developmental disabilities (MR/DD) and their families living in urban setting, a noncenter-based model of case management was implemented. In contrast to traditional case management in which families and consumers come to the case manager and most service coordination is done by telephone or in meetings at the case manager/social worker's worksite, the case manager in a noncenter-based model is mobile and able to meet the consumer and family in their domains. In this model, case management is provided in conjunction with in-home residential habilitation and funded by Medicaid under the Home and Community Based Services Waiver. This funding stream provides monies for nontraditional services delivered in noncertified settings. Case managers used the Family Resource Scale to get an immediate indication of the resources and needs of each family. The scale highlights the adequacy of a person's basic and caregiving resources, as well as financial needs. The findings from this study suggest that an understanding of both disability and entitlements is essential for case managers who may have to help advocate for consumers around services and benefits. Moreover, to build and maintain an egalitarian and supportive relationship with families, the importance of caregiver-specified resources and needs must be recognized by case managers. Access to resource information and the ability to engage the family in problem-solving depends on a well-trained staff with the ability to respond to individuals with different needs and from a variety of circumstances. These essential skills prepare a case manager to assist families with their immediate requirements as well as to mobilize them to plan for future needs.

  16. Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.

    Science.gov (United States)

    Dury, Alain Y; El Fatimy, Rachid; Tremblay, Sandra; Rose, Timothy M; Côté, Jocelyn; De Koninck, Paul; Khandjian, Edouard W

    2013-10-01

    Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of messenger ribonucleoprotein (mRNP) complexes present within the translational apparatus. The absence of FMRP in neurons is believed to cause translation dysregulation and defects in mRNA transport essential for local protein synthesis and for synaptic development and maturation. A prevalent model posits that FMRP is a nucleocytoplasmic shuttling protein that transports its mRNA targets from the nucleus to the translation machinery. However, it is not known which of the multiple FMRP isoforms, resulting from the numerous alternatively spliced FMR1 transcripts variants, would be involved in such a process. Using a new generation of anti-FMRP antibodies and recombinant expression, we show here that the most commonly expressed human FMRP isoforms (ISO1 and 7) do not localize to the nucleus. Instead, specific FMRP isoforms 6 and 12 (ISO6 and 12), containing a novel C-terminal domain, were the only isoforms that localized to the nuclei in cultured human cells. These isoforms localized to specific p80-coilin and SMN positive structures that were identified as Cajal bodies. The Cajal body localization signal was confined to a 17 amino acid stretch in the C-terminus of human ISO6 and is lacking in a mouse Iso6 variant. As FMRP is an RNA-binding protein, its presence in Cajal bodies suggests additional functions in nuclear post-transcriptional RNA metabolism. Supporting this hypothesis, a missense mutation (I304N), known to alter the KH2-mediated RNA binding properties of FMRP, abolishes the localization of human FMRP ISO6 to Cajal bodies. These findings open unexplored avenues in search for new insights into the pathophysiology of Fragile X Syndrome.

  17. Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.

    Directory of Open Access Journals (Sweden)

    Alain Y Dury

    2013-10-01

    Full Text Available Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP. This RNA-binding protein, widely expressed in mammalian tissues, is particularly abundant in neurons and is a component of messenger ribonucleoprotein (mRNP complexes present within the translational apparatus. The absence of FMRP in neurons is believed to cause translation dysregulation and defects in mRNA transport essential for local protein synthesis and for synaptic development and maturation. A prevalent model posits that FMRP is a nucleocytoplasmic shuttling protein that transports its mRNA targets from the nucleus to the translation machinery. However, it is not known which of the multiple FMRP isoforms, resulting from the numerous alternatively spliced FMR1 transcripts variants, would be involved in such a process. Using a new generation of anti-FMRP antibodies and recombinant expression, we show here that the most commonly expressed human FMRP isoforms (ISO1 and 7 do not localize to the nucleus. Instead, specific FMRP isoforms 6 and 12 (ISO6 and 12, containing a novel C-terminal domain, were the only isoforms that localized to the nuclei in cultured human cells. These isoforms localized to specific p80-coilin and SMN positive structures that were identified as Cajal bodies. The Cajal body localization signal was confined to a 17 amino acid stretch in the C-terminus of human ISO6 and is lacking in a mouse Iso6 variant. As FMRP is an RNA-binding protein, its presence in Cajal bodies suggests additional functions in nuclear post-transcriptional RNA metabolism. Supporting this hypothesis, a missense mutation (I304N, known to alter the KH2-mediated RNA binding properties of FMRP, abolishes the localization of human FMRP ISO6 to Cajal bodies. These findings open unexplored avenues in search for new insights into the pathophysiology of Fragile X Syndrome.

  18. In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.

    Science.gov (United States)

    Coffee, R Lane; Williamson, Ashley J; Adkins, Christopher M; Gray, Marisa C; Page, Terry L; Broadie, Kendal

    2012-02-15

    Fragile X syndrome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the most common heritable cause of intellectual disability and autism spectrum disorders. It has been long hypothesized that the phosphorylation of serine 500 (S500) in human FMRP controls its function as an RNA-binding translational repressor. To test this hypothesis in vivo, we employed neuronally targeted expression of three human FMR1 transgenes, including wild-type (hFMR1), dephosphomimetic (S500A-hFMR1) and phosphomimetic (S500D-hFMR1), in the Drosophila FXS disease model to investigate phosphorylation requirements. At the molecular level, dfmr1 null mutants exhibit elevated brain protein levels due to loss of translational repressor activity. This defect is rescued for an individual target protein and across the population of brain proteins by the phosphomimetic, whereas the dephosphomimetic phenocopies the null condition. At the cellular level, dfmr1 null synapse architecture exhibits increased area, branching and bouton number. The phosphomimetic fully rescues these synaptogenesis defects, whereas the dephosphomimetic provides no rescue. The presence of Futsch-positive (microtubule-associated protein 1B) supernumerary microtubule loops is elevated in dfmr1 null synapses. The human phosphomimetic restores normal Futsch loops, whereas the dephosphomimetic provides no activity. At the behavioral level, dfmr1 null mutants exhibit strongly impaired olfactory associative learning. The human phosphomimetic targeted only to the brain-learning center restores normal learning ability, whereas the dephosphomimetic provides absolutely no rescue. We conclude that human FMRP S500 phosphorylation is necessary for its in vivo function as a neuronal translational repressor and regulator of synaptic architecture, and for the manifestation of FMRP-dependent learning behavior.

  19. Assessment of the Perceived School Loneliness and Isolation of Mentally Retarded and Nonretarded Students.

    Science.gov (United States)

    Luftig, Richard L.

    1988-01-01

    Perceived school loneliness and isolation of 73 partially mainstreamed retarded students (mean age 13.5 years) and their nonretarded peers was assessed using a five-point Likert-type loneliness scale. Retarded students reported significantly more loneliness and isolation than nonretarded peers suggesting that mainstreaming by itself does not…

  20. 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…