WorldWideScience

Sample records for profound mental retardation

  1. Pre-Language Activities for the Profoundly Mentally Retarded.

    Science.gov (United States)

    Poole, Marilyn R.; And Others

    Provided are sample lesson plans for a program to develop pre-language skills in profoundly retarded children and adults. Characteristic of the suggested activities is the stimulation of all sensory channels through structured infant-like play activities in five general areas: oral stimulation, sensory arousal, motor stimulation, vocal play, and…

  2. The life expectancy of profoundly handicapped people with mental retardation.

    Science.gov (United States)

    Eyman, R K; Grossman, H J; Chaney, R H; Call, T L

    1990-08-30

    The life expectancy of people with mental retardation is shorter than that of the general population. Exact estimates of the length of survival for mentally retarded persons at especially high risk are not available, however. We collected data on mortality and other factors for 99,543 persons with developmental disabilities, including mental retardation, who received services from the California Department of Developmental Services between March 1984 and October 1987. Three subgroups were selected on the basis of the four characteristics identified in previous studies as the best predictors of mortality among mentally retarded people (deficits in cognitive function, limitations on mobility, incontinence, and inability to eat without assistance). In all three subgroups, the subjects had severe deficits in cognitive function and were incontinent; the subjects in subgroup 1 (n = 1550) were immobile and required tube feeding; those in subgroup 2 (n = 4513) were immobile but could eat with assistance; those in subgroup 3 (n = 997) were mobile (but not ambulatory) and could eat with assistance. Life tables were generated for each of the three subgroups. Immobile subjects were found to have a much shorter life expectancy than those who could move about. Those who also required tube feeding (subgroup 1) had a very short life expectancy (i.e., four to five additional years). Those who could eat if fed by others (subgroup 2) had an average life expectancy of approximately eight additional years. In contrast, those who were mobile though not ambulatory (subgroup 3) had a life expectancy of about 23 additional years. Severe mental retardation is associated with a decrease in life expectancy, particularly for those who were immobile.

  3. 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…

  4. Incidence of Short-Sleep Patterns in Institutionalized Individuals with Profound Mental Retardation.

    Science.gov (United States)

    Poindexter, Ann R.; Bihm, Elson M.

    1994-01-01

    Sleep patterns of 103 institutionalized individuals with profound mental retardation were explored. Almost 40% were found to have short-sleep patterns. Short-sleep was predicted by blindness; nonshort-sleep was predicted by diagnosis of cerebral palsy and sodium valproate usage. Techniques for minimizing possible negative consequences of…

  5. An Analysis of Snoezelen Equipment to Reinforce Persons with Severe or Profound Mental Retardation

    Science.gov (United States)

    Matson, Johnny L.; Bamburg, Jay W.; Smalls, Yemonja

    2004-01-01

    Systematically developing methods of reinforcement for persons with severe and profound mental retardation has only recently received a good deal of attention. This topic is important since professionals in the field often have difficulty identifying sufficient numbers of positive stimuli. Snoezelen equipment as reinforcement for individuals with…

  6. A quantitative review of self-help research with the severely and profoundly mentally retarded.

    Science.gov (United States)

    Konarski, E A; Diorio, M S

    1985-01-01

    Eighty-seven studies published since 1964 through 1982 on training self-help skills to severely and profoundly mentally retarded persons were analyzed according to 19 parameters reflecting their methodological details. The results showed a steady interest in this research area over time, but 63% of the studies focused on toileting and feeding with fewer studies looking at other self-help skills. Package treatments composed primarily of accelerative techniques were most frequently used to train these skills. Methodologically, it was found that these studies typically involved profoundly mentally retarded people (33% of studies) who were trained by residential staff (69% of studies) in institutional settings (63% of studies). The results also indicated an increase over time in the number of studies rated acceptable on the reliability and design parameters. Finally, very few studies reported assessments of generalization, maintenance, or social validity. It was concluded that, (a) researchers need to broaden their interests in terms of settings, trainers, and behaviors studied to best meet the needs of this population, (b) the experimental quality of this literature is improving, and (c) the social impact of observed behavior changes has yet to be fully explored.

  7. A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation.

    Science.gov (United States)

    Bat-haee, M A

    2001-10-01

    A longitudinal study indicated that a single group of adults living in a large state institution (O'Berry Center in Goldsboro, North Carolina) benefited from receiving active treatment, although no control group was permitted. After five years, 59 individuals with profound mental retardation improved their skills in six general areas of dressing, grooming, eating, toileting, communication, and social interaction. After five more years of active treatment, 51 persons who had remained in the program maintained their skills in dressing, grooming, eating, and communication. Significant improvement in the use of toilet and a loss in social interaction were observed. Although the participants were 10 years older at the end of this study, their adaptive behaviors, in comparison to the date of entry, either improved or were maintained. Therefore, aging was not associated with decline in skills.

  8. A Family Genetic Study of Autism Associated with Profound Mental Retardation.

    Science.gov (United States)

    Starr, Elizabeth; Berument, Sibel Kazak; Pickles, Andrew; Tomlins, Megan; Bailey, Anthony; Papanikolaou, Katerina; Rutter, Michael

    2001-01-01

    A study involving 47 families of individuals (ages 4-34) with autism and severe mental retardation found the familial loading for autism and for the broader phenotype was closely comparable to that in a study of children with higher IQ autism, and different from that for children with Down syndrome. (Contains references.) (Author/CR)

  9. Use of a Treatment Package in the Management of a Profoundly Mentally Retarded Girl's Pica and Self-Stimulation.

    Science.gov (United States)

    Paniagua, Freddy A.; And Others

    1986-01-01

    Treatment involving verbal reprimands, physical restraint, response interruption, and positive practice overcorrection resulted in rapid and dramatic decreases in the levels of pica and self-stimulation of a 4-year-old profoundly retarded girl. (CL)

  10. Att Tolka Barns Signaler: Gravt utvecklingsstorda flerhandikappade barns lek och kommunikation (To Interpret Childrens' Signals: Play and Communication in Profoundly Mentally Retarded and Multiply Handicapped Children).

    Science.gov (United States)

    Brodin, Jane

    Written in Swedish with an English-language summary, this report describes a study which examined the interaction between mothers or caregivers and their children with profound mental retardation and multiple disabilities, particularly looking at the function of play in communicative interaction. The six children all had five or six handicaps in…

  11. Multi-Sensory Rooms: Comparing Effects of the Snoezelen and the Stimulus Preference Environment on the Behavior of Adults with Profound Mental Retardation

    Science.gov (United States)

    Fava, Leonardo; Strauss, Kristin

    2010-01-01

    The present study examined whether Snoezelen and Stimulus Preference environments have differential effects on disruptive and pro-social behaviors in adults with profound mental retardation and autism. In N = 27 adults these target behaviors were recorded for a total of 20 sessions using both multi-sensory rooms. Three comparison groups were…

  12. Effects of living room, Snoezelen room, and outdoor activities on stereotypic behavior and engagement by adults with profound mental retardation.

    Science.gov (United States)

    Cuvo, A J; May, M E; Post, T M

    2001-01-01

    Two experiments were conducted to test the effect of a room with sensory equipment, or Snoezelen room, on the stereotypic behavior and engagement of adults with profound mental retardation. In Experiment 1, participants were observed in their living room before and after attending the Snoezelen room. Results showed that there tended to be a reduction in stereotypy and increase in engagement when participants went from their living room to the Snoezelen room, and a return of these behaviors to pre-Snoezelen levels in the living room. Positive effects in the Snoezelen room did not carryover to the living room. In Experiment 2, the living and Snoezelen rooms were compared to an outdoor activity condition with the same participants and target behaviors. Results showed that the outdoor condition was superior, the Snoezelen condition intermediate, and the living room least effective in their impact on stereotypic behavior and engagement. Conceptualizations regarding factors that maintain stereotypic behavior and engagement were discussed in the context of the three experimental conditions.

  13. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

    Science.gov (United States)

    Saito-Ohara, Fumiko; Fukuda, Yoji; Ito, Masahiro; Agarwala, Kishan Lal; Hayashi, Masaharu; Matsuo, Masafumi; Imoto, Issei; Yamakawa, Kazuhiro; Nakamura, Yusuke; Inazawa, Johji

    2002-09-01

    A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46,Y,inv(X)(p21.2q22.2). His mother carried this inversion on one X allele. The patient's condition was originally misdiagnosed as cerebral palsy, and only later was it diagnosed as DMD. Because the DMD gene is located at Xp21.2, which is one breakpoint of the inv(X), and because its defects are rarely associated with severe mental retardation, the other clinical features of this patient were deemed likely to be associated with the opposite breakpoint at Xq22. Our precise molecular-cytogenetic characterization of both breakpoints revealed three catastrophic genetic events that had probably influenced neuromuscular and cognitive development: deletion of part of the DMD gene at Xp21.2, duplication of the human proteolipid protein gene (PLP) at Xq22.2, and disruption of a novel gene. The latter sequence, showing a high degree of homology to the Sec4 gene of yeast, encoded a putative small guanine-protein, Ras-like GTPase that we have termed "RLGP." Immunocytochemistry located RLGP at mitochondria. We speculate that disruption of RLGP was responsible for the patient's profound mental retardation.

  14. Patterns of Injury in Institutionalized Mentally Retarded Residents.

    Science.gov (United States)

    Spreat, Scott; Baker-Potts, Joan C.

    1983-01-01

    Patterns of injury for institutional residents of differing levels of mental retardation were investigated with 140 mildly, moderately, severely, and profoundly retarded individuals. Moderately and profoundly mentally retarded persons were found to be much more at risk for personal injury than were mildly or severely mentally retarded individuals.…

  15. Vignettes in Mental Retardation.

    Science.gov (United States)

    Crissey, Marie Skodak

    1983-01-01

    The use of the family history chart and the "Binet-Simon Scale" to study mental retardation in the early 20th century are considered, along with the implications of this practice. With the thesis that mental retardation was primarily familial and hereditary, limiting reproduction and segregation were viewed as appropriate approaches.…

  16. Mental Retardation: Construction Program.

    Science.gov (United States)

    Department of Health, Education, and Welfare, Washington, DC. Secretary's Committee on Mental Retardation.

    Federally funded construction programs for the retarded included are the following: 12 research centers in which biological, medical, social, and behavioral research is conducted to investigate the causes and prevention of mental retardation; 18 university-affiliated facilities for inter-disciplinary training of professional and technical…

  17. Mental Retardation. ERIC Digest #423.

    Science.gov (United States)

    ERIC Clearinghouse on Handicapped and Gifted Children, Reston, VA.

    A brief overview of mental retardation defines the concept, discusses incidence in the general population, describes characteristics of mentally retarded individuals, and discusses educational implications. References for further reading, as well as organizational resources, are provided. (JW)

  18. Teaching Profoundly Retarded Adults to Ascend Stairs Safely.

    Science.gov (United States)

    Cipani, Ennio; And Others

    1982-01-01

    The study was designed to modify the stair climbing behavior of two profoundly retarded residents through backward shaping with graduated guidance, edible rewards, a correction procedure, and a 30 second timeout. Both residents showed an increase in the number of correct steps used while ascending the stairs.

  19. Perceptions of Mental Retardation and Mental Illness.

    Science.gov (United States)

    Caruso, David R.; Hodapp, Robert M.

    1988-01-01

    Open-ended questions of college students (N=60) indicated students clearly differentiated between the mentally retarded and mentally ill. Mental retardation was characterized by physical stigmata, brain damage, developmental delays, and cognitive deficits; mental illness by emotional lability due to environmental, hereditary, or mixed factors.…

  20. 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)

  1. Schizophrenia in the Mentally Retarded.

    Science.gov (United States)

    Menolascino, Frank J.

    The relationship between schizophrenia and mental retardation is examined. Historical associations between symptoms of the two disorders are reviewed, and a 3-year study of the incidence (14%) of mental illness in 798 retarded individuals in a community based program is described. Information on the etiological, developmental, and phenomenological…

  2. 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

  3. Mental Retardation, Mental Illness, and Seizure Diagnosis.

    Science.gov (United States)

    Pary, Robert

    1993-01-01

    Review of psychiatric hospital discharge summaries for 247 individuals with mental retardation and psychiatric disorders found that 39 had a seizure diagnosis. The only difference between the groups with and without seizures was level of mental retardation. No differences existed concerning length of stay, transfer to state hospital, psychiatric…

  4. Mental Retardation; A Basic Guide.

    Science.gov (United States)

    Love, Harold D., Ed.

    Designed as a guideline for parents and teachers, the book includes material prepared by the author as well as papers by others. Advice to parents and the emotional reactions and adjustment of parents are described. A historical survey of mental retardation is presented as are causes of retardation and current research in the field. The following…

  5. China's Approach to Mental Retardation.

    Science.gov (United States)

    Hittman, Stephan

    History, tradition, culture, and superstition have played significant roles in influencing Chinese attitudes toward the mentally retarded. China's overwhelmingly rural, agricultural society has made it dependent upon a huge force of semi-skilled and unskilled labor, to which the retarded are capable of contribution. The stress on self-reliance,…

  6. Antiepileptic Drug Status in Adult Outpatients with Mental Retardation.

    Science.gov (United States)

    Singh, Baldev K.; Towle, Patricia O.

    1993-01-01

    Review of the charts of 100 patients with mental retardation and epilepsy revealed that 60 patients were taking 1 antiepileptic drug and 40 were taking 2 or 3 drugs. Most subjects had generalized tonic-clonic seizures, but individuals with profound retardation had relatively more mixed seizures. (Author/JDD)

  7. 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

  8. Realidades Acerca de la Deficiencia Mental = Facts about Mental Retardation.

    Science.gov (United States)

    Texas State Dept. of Mental Health and Mental Retardation, Austin.

    This document consists of two booklets, one in Spanish and one in English, both covering the same text: the characteristics of mentally retarded individuals, the prevalence of mentally retarded persons in Texas, causes of mental retardation, prevention possibilities, and services available to mentally retarded persons in Texas. A distinction is…

  9. 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…

  10. Epilepsy and Comorbid Mental Retardation

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    J Gordon Millichap

    2007-08-01

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

  11. Mental Retardation: Meeting the Challenge.

    Science.gov (United States)

    World Health Organization, Geneva (Switzerland).

    Major components of care for mentally retarded persons are discussed from an international perspective. The use of community resources to provide comprehensive services is emphasized, including teaching and rehabilitation techniques. Topics addressed include identification and assessment; etiological factors (prevalence and causative factors);…

  12. HANDBOOK OF MENTAL RETARDATION SYNDROMES.

    Science.gov (United States)

    CARTER, CHARLES H.

    THE CLINICAL SYNDROMES WHICH CONTRIBUTE TO THE PRODUCTION OF MENTAL RETARDATION ARE DESCRIBED BY SIGNS, SYMPTOMS, AND ETIOLOGY. SYNDROMES TREATED ARE (1) PRENATAL AND POSTNATAL INFECTIONS, (2) PRENATAL INTOXICATION AND ALLERGIC REACTIONS, (3) PRENATAL TRAUMA, PHYSICAL AGENTS, OR INTOXICATION, (4) BIRTH INJURIES, (5) POSTNATAL POISONS AND ALLERGIC…

  13. Consanguinity and familial mental retardation.

    Science.gov (United States)

    Sridhara Rama Rao, B S; Narayanan, H S

    1976-01-01

    Studies made in a group of patients with mental retardation showed that there was a high degree of parental consanguinity of the order of 30.3%. Index cases with parental consanguinity showed a relatively higher prevalence where more than one sib was affected. Cases with metabolic defects were also more common among cases with parental consanguinity. There is a need for studies in the general population in order to understand the biological significance of consanguinity. PMID:1271423

  14. Voiding dysfunctions in children with mental retardation.

    Science.gov (United States)

    Yang, Pei-Yu; Meng, Nai-Hsin; Chou, Eric Chieh-lung

    2010-09-01

    This study aims to evaluate the voiding disorder and lower urinary tract symptoms in mentally retarded children. Fifty-one mentally retarded children (age 7.7 years) was assessed. A volunteer sample comprised of 36 typically developing children (age 6.4 years) served as the comparative group. All participants underwent uroflometric investigation, and residual urine was detected by sonography. Urological history including history of urinary tract infection, incontinence, frequency, and dysurea was collected. In addition, the mentally retarded group was classified according to IQ: severe mentally retarded group (IQ below 40) (n = 11), moderate mentally retarded group (IQ: 41 to 55) (n = 19), mild mentally retarded group (IQ: 56 to 70) (n = 21). Group comparisons were analyzed using Chi-square and Student's t-test. Of the 51 mentally retarded children, 18(35.2%) were found to have voiding dysfunction, which is significantly higher than the control group (8.3%). The incidence of urine incontinence and frequency is also significantly higher in the mentally retarded group. The comparison of the three mentally retarded subgroups showed that the severe mentally retarded group had the highest incidence of voiding dysfunction and urinary incontinence. Overall, the mentally retarded group had higher percentage of small bladder capacity. We concluded that mentally retarded children have a higher incidence of voiding dysfunction and incontinence than the control group. Early detection of voiding dysfunction in an objective, non-invasive manner is important in mentally retarded children, particularly those with severe cognitive impairment. © 2009 Wiley-Liss, Inc.

  15. Parental Attitude Towards Mental Retardation

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    LEOKADIA WIATROWSKA

    2017-10-01

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

  16. Orthognathic surgery for mentally retarded patients

    NARCIS (Netherlands)

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

    1991-01-01

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

  17. Biological Factors in Mild Mental Retardation.

    Science.gov (United States)

    Costeff, H.; And Others

    1983-01-01

    Children (N=434) with nonsyndromic mental retardation were analysed for frequency of prenatal, perinatal and infantile biological disturbances. Mildly retarded individuals of unrelated parentage, both idiopathic and familial, had a strikingly higher prevalence of disturbances than a control group of retarded individuals with consanguineous parents…

  18. Hand Function Measurement with Educable Mental Retardates

    Science.gov (United States)

    Sand, Patricia L.; And Others

    1973-01-01

    Reports on results of the Developmental Hand Function Test administered to 28 educable mentally retarded and 34 normal 12-and 14-year-old girls to show that manual dexterity and functional had skills are compromised in the mentally retarded. (DS)

  19. Body Awareness in Children with Mental Retardation

    Science.gov (United States)

    Simons, Johan; Dedroog, Inge

    2009-01-01

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

  20. CASE REPORT OF A MENTALLY RETARDED CHILD

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    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.

  1. The Mentally Retarded Offender and Corrections.

    Science.gov (United States)

    Santamour, Miles; West, Bernadette

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

  2. 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…

  3. Rigidity in Mentally Retarded and Nonretarded Children.

    Science.gov (United States)

    Kreitler, Shulamith; And Others

    1990-01-01

    Seven rigidity tests varying in difficulty were administered to 45 retarded subjects, with a mean age of 10, and 45 mental age-matched nonretarded subjects. Subjects did not differ on 3 easy tests, but retarded children were more rigid on 4 difficult tests. (Author/JDD)

  4. Study on etiological factors on mental retardation in Kathmandu.

    Science.gov (United States)

    Chakrabarti, Kajal; Aryal, Umesh

    2003-06-01

    The study of etiological factors on mental retardation was conducted at family counselling and resource school of Association of Welfare of Menta+lly Retarded (AWMR), Hattisar, Kathmandu. A total of 91 mental retarded cases were studied in the year 2000 and 2001 for etiological factors. The present study shows significant relationship of mental retardation and age in both the year. The higher rate of mental retardation in the 0 to 5 years age group in both the year. About 70.0% with mental retardation (MR) are first born babies in both the year. Majority of the families have unfavourable attitude towards the mentally retarded individual.

  5. A Study on Normal Siblings of Mentally Retarded Persons

    OpenAIRE

    Mihara, Hiromitsu

    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...

  6. 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,…

  7. 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

  8. The effects of an environmental "enrichment" program on the behavior of institutionalized profoundly retarded children.

    OpenAIRE

    Horner, R D

    1980-01-01

    This study determined the effects of procedures designed to "enrich" the physical and social environment of an institutional ward on the "adaptive" and "maladaptive" child, adult, self, and object-directed behaviors of five profoundly retarded ambulatory females. Behavior observed in two treatment conditions, an environment "enriched" with toys and objects and an "enriched" environment coupled with differential reinforcement of adaptive behavior, was compared to behavior occurring in correspo...

  9. Euthanasia and mental retardation: suggesting the unthinkable.

    Science.gov (United States)

    Hollander, R

    1989-04-01

    Current opinions on euthanasia of persons with mental retardation were discussed within the framework of the development of social policy towards this population. Historians of mental retardation have emphasized that incarceration and sterilization were the only two policy options available in the late 19th and early 20th centuries, but a third option, euthanasia, was also suggested. The significance of the euthanasia option as the nation struggled to find a solution to the question of how to deal with what was thought to be a sharp rise in the number of people with mental retardation in the United States in the late 19th and early 20th centuries was examined. The responses of service providers to suggestions that euthanasia be implemented were reviewed. The rejection of proposals for euthanasia on moral and religious grounds and on the basis that custodial institutions, based on eugenics principles, were able to achieve the same end through a scientifically justifiable means was explored.

  10. Suicidal Tendencies of Mentally Retarded Adults in Community Settings.

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    Benson, Betsey A.; Laman, David S.

    1988-01-01

    Mentally retarded suicide attempters/ideators (n=22) were compared to 22 nonsuicidal mentally retarded adults referred for outpatient mental health services. Few differences were found between the two groups. The typical suicide attempter was a young adult with mild to borderline mental retardation and a physical disability or chronic medical…

  11. Improving Outcomes for Workers with Mental Retardation

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

    2008-01-01

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

  12. PENETRATING KERATOPLASTY IN MENTALLY RETARDED PATIENTS

    Directory of Open Access Journals (Sweden)

    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.

  13. Blind Children in Mental Retardation Facilities.

    Science.gov (United States)

    Rogow, Sally M.

    The paper reviews problems and challenges in serving blind children in mental retardation facilities. Incidence figures for institutionalized blind multiply handicapped children are cited, and problems of assessing such residents are seen to include uneven development and lack of standardized evaluation measures. The impact of ward management and…

  14. Assessment of Depression in Mentally Retarded Adolescents.

    Science.gov (United States)

    Benavidez, Debra; Matson, Johnny L.

    1993-01-01

    Twenty-five adolescents with mild to severe levels of mental retardation were compared with 25 normal intelligence adolescents on self-report and informant versions of childhood depression measures. Results indicated that the Children's Depression Inventory, Bellevue Index of Depression, and Reynolds Child Depression Scale may be effective…

  15. 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)

  16. College Education for Mentally Retarded Adults.

    Science.gov (United States)

    Jones, Larry A.; Moe, Randi

    1980-01-01

    Postsecondary education is a service system which is underutilized by mentally retarded (MR) adults. Like students with other disabilities, MR adults have recently been attending college in increased numbers largely as a result of the equal treatment guarantee of Section 504 of the Vocational Rehabilitation Act of 1973. (Author/PHR)

  17. Cardiovascular Risk Factor Levels in Adults with Mental Retardation.

    Science.gov (United States)

    Rimmer, James H.; And Others

    1994-01-01

    Comparison of cardiovascular risk factors (blood lipids, obesity, and smoking) in 329 adults with mental retardation residing in various settings with subjects in the Framingham Offspring Study found that adults with mental retardation had cardiovascular risk profiles similar to those of individuals without mental retardation. (Author/DB)

  18. Sterilization of the Mentally Ill and the Mentally Retarded.

    Science.gov (United States)

    National Association of State Mental Health Program Directors, Washington, DC.

    Reported were the results of a survey on the sterilization of the mentally ill and the mentally retarded. Thirty-three states responded to the survey. It was found that 17 states have a sterilization statute, but the existence of the statute was explained not to mean that the procedure was used. Sixteen states responded that they did not have a…

  19. Interpersonal Communication of Children with Mental Retardation

    Directory of Open Access Journals (Sweden)

    Aliyah Nur'aini Hanun

    2013-11-01

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

  20. STRUCTURE OF BODY DEFORMATIES AMONG PERSONS WITH MENTAL RETARDATION

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    Blagoja GESHOSKI

    2010-04-01

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

  1. Stigma Perception and Social Adjustment of Mentally Retarded Persons.

    Science.gov (United States)

    Gibbons, Frederick X.

    Two studies attempted to assess the effect of the mental retardation label on the formation of social impressions in mentally retarded (MR) adults. In the first study, 123 mildly retarded students, half of whom were institutionalized were interviewed and asked to respond to questions about individuals pictured (some of whom were labeled as MR).…

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

    OpenAIRE

    Mahdi Foroutan

    2014-01-01

    Introduction: It is estimated that 2800000 to 4800000 individuals in Iran suffer from some kind of mental or physical handicap. According to Iranian social welfare university, about 24000 mental retard children would be added to this population. The aim of this study was to evaluate demographic factors which were associated with mental retardation in Khorasan Razavi population. Materials and Methods:In this cross sectional study, the records of all mentally retarded children who had been r...

  3. Effects of Snoezelen Room, Activities of Daily Living Skills Training, and Vocational Skills Training on Aggression and Self-Injury by Adults with Mental Retardation and Mental Illness

    Science.gov (United States)

    Singh, Nirbhay N.; Lancioni, Giulio E.; Winton, Alan S. W.; Molina, Enrique J.; Sage, Monica; Brown, Stephen; Groeneweg, Jop

    2004-01-01

    Multi-sensory stimulation provided in a Snoezelen room is being used increasingly for individuals with mental retardation and mental illness to facilitate relaxation, provide enjoyment, and inhibit behavioral challenges. We observed aggressive and self-injurious behavior in three groups of 15 individuals with severe or profound mental retardation…

  4. Early identification and prevention of mental retardation.

    Science.gov (United States)

    Persha, A J

    1992-01-01

    Early identification and prevention of mental retardation helps in terms of treatment for some conditions, better planning and management of cases, and counseling. Diagnostic procedures are available during pregnancy for early detection: blood tests, amniocentesis, ultrasound, fetoscopy, and urine tests; tests available for the newborn are blood tests for hypothyroidism, PKU; urine tests for metabolic disorders; apgar scores for screening of neurological deficits; neurobehavioral assessments, developmental schedules; neurodevelopmental screening; sensory examination; speech and language assessments; EEG; and imaging techniques. Early identification of mental retardation is beneficial in aiding the child's development and personality and in helping parents adjust mentally and learning to cope with caring for the child. Sometimes, it can help to limit the number and extent of the handicap. Prevention can be primary, secondary, or tertiary. The emphasis is on planned pregnancies, regular prenatal care, regular health checkups for mother and child, immunization, nutrition, prevention of environmental hazards and accidents, early identification and screening, genetic studies and counseling, family planning, and creation of awareness among the general population. Inadequate prenatal care is associated with prematurity and low birth weight, which are linked to mental retardation. Prenatal care for the pregnant woman involves participating in regular prenatal checkups, maintaining good nutrition, having preliminary screening, attending promptly to illnesses and infections, and getting immunized at the appropriate time. Avoidance of the following is recommended: unnecessary and nonprescribed drugs, physical accidents, exposure to radiation and teratogens, alcohol and tobacco consumption, exposure to infections such as measles, rubella, or syphilis, toxins and poisons such as lead, and attempts at abortion. Genetic counseling can provide information on the disorders, the

  5. Acquisition and generalization of instruction following behavior in profoundly retarded individuals.

    Science.gov (United States)

    Ivy, R; Dubin, W

    1979-08-01

    Four profoundly retarded male residents of a state institution learned to comply with the instructions "come here," "stay," and "sit." Acquisition occurred in a special therapy room and instructions were presented in a fixed sequence. All subjects learned to comply with the instructions in the training environment. Testing occurred in the subject's ward dayroom where instructions were presented in a random sequence. Despite dramatic changes in the stimulus conditions associated with the transfer to the testing situation the subjects performed close to their asymptotic level. Three experimentally naive subjects participated in a second experiment which was similar to the first, except that the number of acquisition sessions and the number of trials per session were reduced. The reduction in number of acquisition trials did not appear to affect performance in the testing environment. The possibility of terminating off-task behavior of institutionalized individuals by eliciting previously acquired instruction following behavior was discussed.

  6. Sensorimotor functioning and prelinguistic communication of severely and profoundly retarded individuals.

    Science.gov (United States)

    Lobato, D; Barrera, R D; Feldman, R S

    1981-03-01

    The prelinguistic, nonverbal communicative behavior of 40 institutionalized severely and profoundly retarded children and adolescents functioning at various stages of Piaget's sensorimotor period was examined. Five scales of the Uzgiris and Hunt (1975) sensorimotor assessment were used to determine general level of sensorimotor functioning. A standard set of communication elicitation tasks was employed to examine the gestures used to communicate in both imperative and declarative contexts. More competent sensorimotor performance was associated with higher frequency of more sophisticated and symbolic forms of gestural communication, and subjects generally used more complex gestures to communicate in the imperative than in the declarative tasks. Applicability of the results to the design of future language-intervention programs and their implications for general theory concerning the relations between language and cognition and between normal and atypical development were discussed.

  7. 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 AFFAIRS SCHEDULE FOR RATING DISABILITIES Disability Ratings Mental Disorders § 4.127 Mental retardation and personality disorders. Mental retardation and personality disorders are not diseases or injuries...

  8. THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION

    OpenAIRE

    Prasad, K.M.R.; Girimaji, S.R.; Manjunatha, K.R.; Khanna, Neelam; Rao, B.S.S.; Ravi, V.; MURTHY, R. SRINIVASA; Vani, K.R.

    1995-01-01

    Microcephaly with mental retardation forms a distinct subgroup among mentally retarded individuals. The paucity of studies on the etiology of this condition in India made the investigators to study this population. It HTO aimed to study the demographic and clinical characteristics, and the etiologic pattern in children with microcepltaly and mental retardation The sample consisted of 82 children who were examined by detailed clinical assessment and a battery of investigations. A definite etio...

  9. Specificities of psychoses in children and adolescents with mental retardation

    OpenAIRE

    Kolar Dušan; Bojanin Svetomir S.; Kolar Mila

    2003-01-01

    Mental retardation is a heterogeneous neurodevelopmental disorder characterized by arrested or incomplete psychological development. The first part of the study deals with psychological and biological factors: etiology and pathogenesis of mental retardation and comorbid psychiatric disorders Their etiopathogenesis is similar as in other neurodevelopmental disorders and it was analyzed in the part dealing with biological specificities of persons with mental retardation. Numerous bio-psycho-soc...

  10. 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,

  11. Evaluation of Still Picture Telephone for Mentally Retarded Persons. Telematics and Mental Retardation.

    Science.gov (United States)

    Brodin, Jane; Bjorck-Akesson, Eva

    This study examined the benefit of using a visual telecommunication system for Sweden's children and adults with mild to moderate mental retardation and speech difficulties. The Panasonic Image Communication Unit connects to standard modular telephones and includes a camera and monitor for the transfer of pictures. Units were placed in eight…

  12. 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.

  13. AN EARLY DETECTION OF MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    Koviljka RADULOVIC

    1997-12-01

    Full Text Available The early detection of children with mental retardation is based on the close collaboration of a neonatologist, the pediatric services and a psychologist. The main methods are the following up of children who are carrying by themselves factors from birth, systematic six-months controls in the first three years of life, and collaboration with institutions taking care of youngsters.The analysis is based on the opinion of the neonatologist, an anamnesis taken from the parents, on following the child's development by a pediatrician and psychologist, as well as on the application of psychological tests according to the age of the child.At the moment, this method of working could be elaborated through developmental counseling departments located in municipal health institutions.The fact is that early detection has its value only if there are conditions for early treatment. This fact obliges developmental counseling departments to include in its team, besides a pediatrician and a psychologist, also defectologist who has adequate methods for the stimulation of the development and early treatment of mentally retarded children.

  14. Low Elevated Lead Levels and Mild Mental Retardation.

    Science.gov (United States)

    Marlowe, Mike; And Others

    To investigate the relation between low level lead absorption and mild mental retardation, hair lead concentrations were compared in a group of 40 mildly retarded children "etiology unknown" with a control group of 20 children. Children with probable cause for retardation were excluded from the sample as were children with a history of lead…

  15. Obesity of Mentally Retarded Individuals: Prevalence, Characteristics, and Intervention.

    Science.gov (United States)

    Burkart, Jennifer E.; And Others

    1985-01-01

    Research on prevalence, characteristics, and treatment of obesity of mentally retarded individuals was reviewed. Obesity is prevalent in retarded Ss, with a greater incidence among females than males. Obese retarded Ss as a group can be distinguished from nonobese peers by physical condition, but not by eating style or personality characteristics.…

  16. Birth Order, Maternal Age, and Mental Retardation

    Science.gov (United States)

    Sternlicht, Manny; And Others

    1975-01-01

    Compared were the birth order, maternal age, and etiology of retardation in 309 institutionalized retarded persons (4-69 years old) and 69 retarded persons (3-62 years old) attending a private community center. (Author/CL)

  17. Intentional and Incidental Memory in Organically Mentally Retarded, Familial Retarded, and Nonretarded Individuals.

    Science.gov (United States)

    Burack, Jacob A.; Zigler, Edward

    1990-01-01

    When 40 organically mentally retarded, 33 familial retarded, and 35 nonretarded school-age children were compared on 2 tasks of intentional memory, with mental age being covaried, the nonretarded children performed best, followed by the familial group. The 3 groups did not differ on a task of incidental learning. (Author/JDD)

  18. [Specific aspects of psychoses in mentally retarded children and adolescents].

    Science.gov (United States)

    Kolar, Dusan; Bojanin, Svetomir; Kolar, Mila

    2003-01-01

    Mental retardation is a heterogenous neurodevelopmental disorder characterized by arrested or incomplete psychological development. The first part of the study deals with psychological and biological factors: etiology and pathogenesis of mental retardation and comorbid psychiatric disorders. Their etiopathogenesis is similar as in other neurodevelopmental disorders and it was analyzed in the part dealing with biological specificities of persons with mental retardation. Numerous biopsycho-social factors cause increased vulnerability of the mentally retarded to development of mental disorders. Thus, prevalence of these disorders is higher in mentally retarded persons than in general population. This study also deals with specificities regarding diagnosis of psychotic disorders in mentally retarded persons as well as neurobiologic, epidemiologic, clinical and therapeutic characteristics of schizophrenic psychoses, autism and affective disorders in persons with mental retardation. Special emphasis was given to diagnostics of these disorders in mentally retarded children and adolescents, as well as to problems of differential diagnostics. Apart from other things, we have concluded that specific clinical pictures demand subspeciality approach in the frame of developmental psychiatry.

  19. Normalization of Institutional Mealtimes for Profoundly Retarded Persons: Effects and Noneffects of Teaching Family-Style Dining.

    Science.gov (United States)

    Wilson, Philip G.; And Others

    1984-01-01

    The study evaluated a program for teaching family-style mealtime skills to four profoundly retarded institutionalized adolescents. The program used forward chaining with a less-to-more intrusive prompting sequence and contingent reinforcement to teach the skills. (Author/DB)

  20. 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…

  1. Programs for Preventing the Causes of Mental Retardation.

    Science.gov (United States)

    Oliphant, Peter S.; And Others

    This monograph, which reports findings from the New Jersey Governor's Council on the Prevention of Mental Retardation, discusses the scope of mental retardation (MR), its causes, identification of people at risk, and prevention methods. The Council cites several cost-effective prevention programs, such as vaccination programs and prenatal care…

  2. PUBLIC PROVISION FOR THE MENTALLY RETARDED IN THE UNITED STATES.

    Science.gov (United States)

    BEST, HARRY

    WRITTEN FROM THE STANDPOINT OF THE SOCIOLOGIST OR SOCIAL SCIENTIST, THIS BOOK REPORTS DATA OBTAINED FROM STATISTICAL RESEARCH ON MENTAL RETARDATES. ITS CHIEF PURPOSE IS THE SCIENTIFIC STUDY OF THE MENTALLY RETARDED AND PROVISIONS MADE FOR THEM IN THE UNITED STATES. DISCUSSION OF THE GENERAL CONDITION COVERS DEFINITION AND CLASSIFICATION, ETIOLOGY,…

  3. Association between the Diagnosis of Mental Retardation and Socioeconomic Factors.

    Science.gov (United States)

    Slone, Michelle; Durrheim, Kevin; Lachman, Peter; Kaminer, Debra

    1998-01-01

    An examination of clinical data from the regional hospital in Cape Town, South Africa, over four years for 538 children with a diagnosis of mental retardation found mild mental retardation referrals were underrepresented in low socioeconomic areas and that paramedical agencies were the primary referral source in these areas. (Author/CR)

  4. 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…

  5. Adaptive Behavior Malingering in Legal Claims of Mental Retardation

    Science.gov (United States)

    Kadlubek, Renee Marie

    2012-01-01

    In 2002, the Supreme Court ruled that it is unconstitutional to put people with mental retardation to death for capital crimes ("Atkins v. Virginia," 2002). Justice Scalia dissented, suggesting that mental retardation is a condition easy to feign. The current study examined whether participants provided with the definition of mental…

  6. Ethics: the agonizing decisions in mental retardation.

    Science.gov (United States)

    Yeaworth, R C

    1977-05-01

    Many decisions which were once outside our control are now becoming matters of choice. Amniocentesis can detect severe birth defects and severely defective or crippled persons can be kept alive for long periods of time. Most people believe in adequate medical care and education for those born with physical and/or mental handicaps; the problems arise when the attempt to attain 1 valued goal conflicts with attaining others. There are insufficient resources to attain all goals. Physicians and nurses traditionally value individual human life while ignoring the family and broader society. The question raised now concerns the allocation of resources to individuals with terminal illness or life of limited quality vs. spending on public health measures that might preserve more lives. What part should societal coercion or societal persuasion play in handling cases of pregnancy at high risk of a deformed or retarded fetus, or extraordinary care of a severely deformed child? It is imperative for nurses to take an informed stand on such ethical issues. Many of the decisions to be made have greater bearing on the lives of women, those who will have to undergo the amniocentesis or abortion or raise the retarded child.

  7. Facilitating family occupations: family member perceptions of a specialized environment for children with mental retardation.

    Science.gov (United States)

    Sachs, Dalia; Nasser, Kareem

    2009-01-01

    We studied the experience of family occupations in the Snoezelen context (i.e., a highly specialized therapeutic room for family gatherings) and analyzed how it facilitated occupations for parents of children with severe and profound mental retardation living in residential facilities. In-depth interviews and participatory observations were held with 10 families of children with mental retardation living in a long-term residential facility for children with mental retardation in Haifa, Israel. Two main themes emerged: The Snoezelen environment was experienced as another world, where parents sensed detachment from external reality and a transition to relaxation and intimacy. The intimacy of the Snoezelen world fostered the experience of being together as a family, where all family members shared fun activities and strengthened their relationship. A sense of intimacy and relaxation, provided by the Snoezelen environment, is important in facilitating family occupations for this population. Interventions in occupational therapy must be designed that take these requirements into consideration.

  8. Relation between musical aptitude and intelligence among mentally retarded, advantaged, and disadvantaged subjects.

    Science.gov (United States)

    Braswell, C; Decuir, A; Hoskins, C; Kvet, E; Oubre, G

    1988-10-01

    The purpose of this study was to investigate differences in scores of 59 mentally retarded adults (mild, moderate, severe, or profound), 133 advantaged, and 130 disadvantaged (low income) children in Grades 1, 2, 3 on the Primary Measures of Music Audiation. Test-retest reliabilities for the Tonal and Rhythm subtests were .81 and .86, respectively, for the retarded group. Analysis of variance indicated that the mildly retarded children performed significantly better than other groups of retarded children on these two tests. 2 x 3 analyses of variance indicated that third graders from both advantaged and disadvantaged groups performed significantly better than the first or second graders on both subtests and that advantaged children performed significantly better than the disadvantaged. However, disadvantaged children made greater gains, especially for third graders, than the advantaged.

  9. Consanguinity analysis in Israeli mental retardates.

    Science.gov (United States)

    Costeff, H; Cohen, B E; Weller, L; Rahman, D

    1977-01-01

    Consanguinity rates were analyzed in 904 families of retardates studied in 11 Israeli Jewish ethnic groups. It was estimated that the representative recessive gene frequency is .00518, implying that a gene equilibrium maintained by mutation alone is improbable and that some other hypothesis should be considered. The proportions of homozygotes among the following idiopathic subgroups are estimated as follows: 18%-19% homozygotes among severe idiopathic retardates with nonconsanguineous parents and no affected siblings; 74%-76% homozygotes among severe idiopathic retardates with first-cousin parents and no affected siblings; 5% homozygotes among mild idiopathic and idiopathic-familial retardates with nonconsanguineous parents; and 41% homozygotes among mild idiopathic and idiopathic-familial retardates with first-cousin parents. The estimated number of major gene loci within ethnic groups is 17-21 for severe idiopathic retardation and 43-61 for mild idiopathic retardation. These findings provide a basis for genetic counseling of families with single retardates of unknown cause. They can also be useful in epidemiologic studies of nongenetic factors. The great prevalence of common gene defects causing retardation, coupled with the rarity of disorders of amino acid metabolism in the same series, seem to indicate that further emphasis on amino acid metabolism may be nonproductive in the scientific study of retardation and that other biochemical approaches should be encouraged. PMID:879167

  10. Retrospective karyotype study in mentally retarded patients.

    Science.gov (United States)

    Teixeira, Wellcy Gonçalves; Marques, Fabiana Kalina; Freire, Maíra Cristina Menezes

    2016-01-01

    To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

  11. Communication Problems in Mental Retardation: Diagnosis and Management.

    Science.gov (United States)

    Lillywhite, Herold S.; Bradley, Doris P.

    Discussed are the problems of communication in mental retardation with an introductory background and definition of this problem, including the etiological factors and general characteristics. A presentation of diagnostic methods leads into discussions of the problem of medical-dental management and educational management of the retarded child.…

  12. Development programme motor function of children with mental retardation

    Directory of Open Access Journals (Sweden)

    Kozina Zh.L.

    2014-01-01

    Full Text Available Purpose: to study the rehabilitation program recovery of motor function of children with mental retardation. Material-methods: the study involved 19 students from primary diagnosis - mental retardation. Age of children was 8 - 9 years and 9 - 10 years. Motor speed detection reaction carried out using a falling line setting (in cm. Determination of speed integral motor actions performed with running 30 meters to go. From cross-country test also used the shuttle run 4x9 meters. Results : a program of exercise for children with mental retardation. Exercises aimed at correcting the basic movements, flexibility correction, correction and development of coordination abilities, adjustment and development of physical fitness, correction and prevention of secondary fractures. Conclusions : it was found that the rehabilitation program for development and correction of motor function of children with mental retardation is an effective and affordable to adjust coordination abilities and flexibility.

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

    NARCIS (Netherlands)

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

    1990-01-01

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

  14. Coding, Planning and Mental Retardation: Theory, Evidence and Implications.

    Science.gov (United States)

    Molloy, Geoffrey N.; Das, J. P.

    1980-01-01

    The paper traces the development of an integrated model of cognition stemming from Soviet neuropsychology and reviews recent research on simultaneous and successive syntheses. Implications for mental retardation, learning disability, hyperactivity, and reading disability are given. (Author/CL)

  15. 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.…

  16. The Prevalence of Minor Physical Anomalies in Mentally Retarded Children

    OpenAIRE

    Ulovec, Z.; Škrinjarić, I.; Šošić, Z.; Szirovicza, L.; Jukić, J.

    2002-01-01

    The prevalence of minor physical anomalies was examined in a sample of 109 children with idiopathic mental retardation (65 boys and 44 girls). Control group consisted of 246 healthy schoolchildren (123 boys and 123 girls) aged 8 to 12 years. A comparison was made between number of found minor anomalies per child (W1) and their Waldrop weight scores (W2) in healthy and mentally retarded (MR) children. The MR children were found to have a higher number of minor anomalies per chil...

  17. 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.

  18. Social relationships of adolescents with moderate mental retardation.

    Science.gov (United States)

    Siperstein, G N; Bak, J J

    1989-02-01

    The social relationships of 64 adolescents with moderate mental retardation from seven classes in a special day school were examined via two sociometric measures. Results indicated that the classes contained social structures similar to those found in regular classrooms for students without retardation. Students were selective in choosing friends and playmates, there was reciprocity in their friendship choices, and classes had popular and rejected students. Further, students frequently chose as friends members of the opposite sex, peers from other classes, and adults in the school and community. Implications for future research concerning the nature and development of friendships among students with mental retardation were discussed.

  19. Measurement Characteristics of the Quality of Life Index When Used with Adults Who Have Severe Mental Retardation. Brief Report.

    Science.gov (United States)

    Campo, Stephanie F.; And Others

    1996-01-01

    The Quality of Life Index was completed by 120 residential staff for 60 adults with severe to profound mental retardation residing in group homes. Measurement integrity was analyzed through use of principal components analysis, confirmatory rotation of components, and Cronbach alphas. Results are compared with results obtained from a more…

  20. Genetic Causes of Mental Retardation in Bushehr Province

    Directory of Open Access Journals (Sweden)

    Elaheh Papari

    2013-01-01

    Full Text Available Objective: About 50% of severe to profound intellectual disabilities (ID are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had more than two affected individuals. Karyotyping for each proband with physical malformations was performed. One affected member from each family was tested for FMR1 mutation and metabolic screening. Families with ID and primary microcephaly were checked for 7 known MCPH genes by linkage analysis. Results: Chromosomal abnormality was not found in any of the families. One family had full mutation of CGG repeat of Fragile-X syndrome. Six out of 18 families with MCPH showed linkage to one of the MCPH loci. One family had a syndrome associated with microcephaly. Two families with microcephaly and one family with a non-syndromic form of mental retardation without microcephaly showed an autosomal dominant mode of inheritance. Conclusion: According to our results genetic causes of ID are very heterogeneous and autosomal recessive primary microcephaly has an extremely high prevalence (26.09% in Bushehr province of Iran.

  1. The Political Values of Mentally Retarded Citizens.

    Science.gov (United States)

    Green, Barbara B.; Klein, Nancy K.

    1980-01-01

    The findings indicated that the retarded are affected by the process of political socialization much like their nonretarded peers. In forming a ranking of goal-values, age and socioeconomic status outweighed differences in cognitive ability. (Author/DLS)

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

    African Journals Online (AJOL)

    The study sought to establish the level of HIV and AIDS awareness among children with mental retardation in Masvingo urban of southern Zimbabwe. Openness to the subject of sexuality and HIV and AIDS is considered as taboo in many African cultures. To persons with disabilities, let alone individuals with mental ...

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

    African Journals Online (AJOL)

    2011-09-03

    Sep 3, 2011 ... against women and children is rife in South Africa, the country has been branded the 'rape capital of the world'. ... the criminal justice system, have regarded people with mental retardation as unreliable witnesses. ..... Another important role player in this legal battle is the police. If a rape survivor with mental ...

  4. Sex between people with "mental retardation": an ethical evaluation.

    Science.gov (United States)

    Spiecker, Ben; Steutel, Jan

    2002-06-01

    Is sex between people with "mental retardation" [1] morally permissible and, if at all, under what conditions? This paper tries to answer this question, but only with regard to sex between biologically mature individuals with mild or moderate mental retardation. First, the concepts of "sexual activity" and mental retardation" are analysed briefly, which is challenging given the widely divergent and sometimes rather awkward definitions of these concepts. On the basis of this analysis, it is argued that the liberal principle of mutual consent, if taken as a necessary condition of permissible sex, has unacceptable consequences for people with mental retardation. Many forms of sex between them would be morally impermissible, given the fact that their limited powers of practical reasoning will often make valid consent well-nigh impossible. As an alternative to the liberal principle of permissible sex, conditions are specified that include the additional consent of caretakers. If people with mental retardation do not have the capacities of practical deliberation required for valid consent, care providers with mature reasoning powers should act as their substitutes. Finally, some important implications for the moral education of future care professionals are spelled out.

  5. 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,…

  6. Fragile site X chromosomes in mentally retarded boys.

    OpenAIRE

    Moon, H. R.; Moon, S. Y.

    1993-01-01

    The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positiv...

  7. Training Law Enforcement Officers: The Logical Starting Point in Understanding the Mentally Retarded Offender.

    Science.gov (United States)

    Reid, Linn; And Others

    1985-01-01

    Underscores the importance of police officers understanding mental retardation when dealing with mentally retarded offenders. Describes a study comparing the effectiveness of two instructional methods for increasing officer knowledge about the mentally retarded. Discusses implications for police educators and ways of identifying mentally retarded…

  8. The Mentally Retarded Child and His Family.

    Science.gov (United States)

    Koch, Richard, Ed.; Dobson, James C., Ed.

    Described as a text for students in college courses of all disciplines relating to the mentally handicapped (education, medicine, psychology, rehabilitation and others), the collection of papers contains two introductory articles on the origins of intelligence and the meaning of mental handicaps. Eight papers devoted to the biological factors in…

  9. Depression, Anxiety, and Relevant Cognitions in Persons with Mental Retardation.

    Science.gov (United States)

    Glenn, Elizabeth; Bihm, Elson M.; Lammers, William J.

    2003-01-01

    This study assessed depression, anxiety, and relevant cognitions in 46 adults with borderline, mild, or moderate mental retardation. Consistent with research on other groups, self-reports of depression and anxiety were highly correlated and cognitions were strong predictors of negative affect. Hierarchical multiple regression analyses offered…

  10. Research in mental retardation in the German Democratic Republic (GDR).

    Science.gov (United States)

    Kurth, E

    1984-01-01

    Research in mental retardation in the GDR has been influenced primarily by the brain damage--development theory, which assumes biological as well as social determinants in human development. The theory was based on the results of brain damage (encephalopathy) research, which distinguishes between primary and secondary symptoms of mental retardation. The importance of social factors such as family conditions for development was demonstrated in a variety of studies, including research with adopted children. Positive results have been achieved with early education programming for developmentally disabled children, as well as with medical treatment for some genetically induced metabolic disorders. Results from longitudinal studies suggest that intelligence continues to develop in educable mentally retarded adolescents. New diagnostic methods have been developed; test of motor skills, visuomotor coordination, and a developmental test for young infants. Further developments of traditional school entrance diagnosis for special education classes is reported. Several studies show that there has been some success in the vocational and social integration of mentally retarded persons in the GDR.

  11. Behavioral Coping Styles of Mentally Retarded and Learning Disabled Pupils.

    Science.gov (United States)

    Price, Barrie Jo; Marsh, George E., II

    The Coping Analysis Schedule for Educational Settings (CASES), an observation instrument to identify students' primary coping or interaction styles, was evaluated with 44 educable mentally retarded (EMR), learning disabled (LD), or normal children (7 to 11 years old). CASES is intended to be a quantitative tool for collecting the data required…

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

    African Journals Online (AJOL)

    Background Mental retardation is a chronic and permanent disorder occurring during developmental period of life. The uncertainty of the future and independent existence result in negative attitudes toward the affected children. An increased burden of care leading to emotional and psychological distress among parents.

  13. 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…

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

    African Journals Online (AJOL)

    They also struggled to give care to their children with mental retardation and manage their families. Resources were lacking and qualified professionals were scarce. The mothers need emotional support from members of their families, friends and members of the community. There is need to implement health support ...

  15. 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…

  16. Psychological Aspects of Sleep Disorders in Children with Mental Retardation.

    Science.gov (United States)

    Smith, David T.

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

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

    African Journals Online (AJOL)

    The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot's spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum. Keywords: C syndrome; Skeletal anomalies; Mental retardation; Eye lid chalazion; Bitot's spots; Agenesis of corpus callosum ...

  18. Housekeeping Management Assistant Manual for Training of the Mentally Retarded.

    Science.gov (United States)

    Texas Tech Univ., Lubbock. Research and Training Center in Mental Retardation.

    Presented is an instructional guide for teaching mentally retarded persons to become housekeeping assistants. Listed are tasks, objectives, and background information for the following six units: general safety procedures; daily duties (general cleaning, use of supply carts, and bathroom cleaning); laundry procedures (including use of washer and…

  19. Teaching and Training Relevant Community Skills to Mentally Retarded Persons.

    Science.gov (United States)

    Matson, Johnny L.

    1988-01-01

    Reviews some of the major developments in teaching and training relevant community skills to mentally retarded persons. The following adaptive skills are discussed: (1) toilet use and bed wetting; (2) eating, dressing, and personal hygiene; (3) community survival; and (4) vocational and social skills. (BJV)

  20. Frequency of fragile-x in x‑linked mental retardation

    African Journals Online (AJOL)

    Introduction: Fragile X syndrome (FXS) is the most common form of inherited mental retardation and accounts for about one third of all cases of X linked mental retardation (XLMR). It is inherited as an X‑linked dominant trait with a fragile site at Xq27.3 locus named fragile X mental retardation gene (FMR‑1). The FMR‑1 ...

  1. Mental Retardation: A Look at Alcohol and Other Drug Abuse Prevention.

    Science.gov (United States)

    VSA Educational Services, Washington, DC. Resource Center on Substance Abuse Prevention and Disability.

    This guide to alcohol and other drug abuse prevention for individuals with mental retardation begins with a definition of mental retardation and developmental disability. The implications of alcohol and other drug use for individuals with mental retardation are noted, emphasizing that this population does not use alcohol or other drugs as…

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

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

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

  3. Psychopathology and Mental Retardation: Survey of a Developmental Disabilities Mental Health Program.

    Science.gov (United States)

    Reiss, Steven

    1982-01-01

    Survey responses from 66 adult referrals to a mental health clinic for mentally retarded persons revealed that four diagnostic groupings (schizophrenic symptomatology, antisocial behavior, depression, and personality disorder) accounted for 51 of the 66 referrals. Results emphasized the need for mental health services for this population. (CL)

  4. The Placement of the Mentally Retarded Child

    African Journals Online (AJOL)

    A mentally handicapped child brings tremendous problems to his family. He may be rejected entirely, or he may be given an undue amount of attention to the detriment of the whole family. An attempt is made to point out an intermediate course which will give happiness to the child and yet not disrupt the family. S. Afr. Med. l., ...

  5. 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. © 2011 The Authors. Psychogeriatrics © 2011 Japanese Psychogeriatric Society.

  6. 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…

  7. Complex aetiology of an apparently Mendelian form of Mental Retardation

    Directory of Open Access Journals (Sweden)

    Wetterberg Lennart

    2008-02-01

    Full Text Available Abstract Background Mental Retardation is a common heterogeneous neurodevelopment condition, which causes are still largely elusive. It has been suggested that half of the phenotypic variation of intelligence is explained by genetic variation. And genetic or inherited factors indeed account for most of the cases of mental retardation with an identifiable cause. However, only a few autosomal genes have been mapped and identified to date. In this report, the genetic causes for an apparently recessive form of mental retardation, in a large nordern swedish pedigree, are investigated. Methods After extensive evaluation of the patients, which ruled out recognizable patterns of malformation and excluded known causes of MR, a comprehensive genome-wide linkage analysis, with 500 microsatellite markers, was performed in 24 members of this family. Additionally, a genome-wide copy number analysis, using an affimetrix 250 K SNP chip, was performed in this pedigree. Results No significant LOD score was found with either parametric and non-parametric linkage analysis. The highest scores are located at chromosomes 13, 15 and 17. Genome-wide copy number analysis identified no clear cause for the disorder; but rather, several variants were present in the family members, irrespective of their affected status. Conclusion These results suggest that mental retardation in this family, unlikely what was expected, has a heterogeneous aetiology; and that several lower effect genes variants might be involved. To demonstrate such effects, our family may be too small. This study also indicates that the ascertainment of the cause of MR may be challenging, and that a complex aetiology may be present even within a pedigree, constituting an additional obstacle for genetic counselling. Variants in genes involved in molecular mechanisms of cellular plasticity, in genes involved in the development of underlying neural architectures, and in genes involved in neurodevelopment and in

  8. Pharmacological outcomes in people with mental retardation and epilepsy.

    Science.gov (United States)

    Kelly, Kevin; Stephen, Linda J; Brodie, Martin J

    2004-02-01

    The aim of this study was to examine prospective outcomes in mentally retarded people with epilepsy seen for the first time during 1998 until the end of 2001. Two hundred and fourteen patients (120 men, 94 women, aged 11-70 years [median 34 years]) were referred over this 4-year period. Median duration of follow-up was 18 months (range, 13-36 months). Seventeen (8%) had nonepileptic attacks only, 10 of whom were being treated with antiepileptic drugs (AEDs). The remaining 197 (92%) patients had epilepsy, the majority (n=151, 77%) presenting with focal seizures. A total of 22 patients were started on AED treatment, with seizure freedom for at least a year being achieved in 10 (45%). AED manipulation was undertaken in a further 136 patients, resulting in 59 (43%) becoming seizure-free. No relationship was found between extent of mental retardation and seizure control. There was no deterioration in mean caregiver scores rating sleep, appetite, alertness, and behavior. These findings suggest that AED therapy can result in seizure freedom in more than 40% of mentally retarded people with epilepsy without producing unacceptable toxicity.

  9. Kidney transplants from young children and the mentally retarded.

    Science.gov (United States)

    Steinberg, David

    2004-01-01

    Kidney donation by young children and the mentally retarded has been supported by court decisions, arguments based on obligations inherent in family relationships, an array of contextual factors, and the principle of beneficence. These justifications for taking organs from people who cannot protect themselves are problematic and must be weighed against our obligation to protect the vulnerable. A compromise solution is presented that strongly protects young children and the mentally retarded but does not abdicate all responsibility to relieve suffering. Guidelines are proposed that prohibit the retrieval of kidneys from young children and the mentally retarded but permit one exception. They would allow retrieval of a kidney when the consequence to a first order relative with whom the donor has a meaningful and valuable relationship is otherwise imminent death. This would be done in accordance with additional guidelines that minimize harm to the donor. Since most patients with end stage renal disease can be maintained on dialysis the need for a kidney to prevent death should be an uncommon occurrence. This compromise is proposed as a solution to a dilemma that exists because two ethical principles are in conflict and one cannot be honored without violating the other.

  10. THE ETIOLOGIC PATTERNS IN MICROCEPHALY WITH MENTAL RETARDATION

    Science.gov (United States)

    Prasad, K.M.R.; Girimaji, S.R.; Manjunatha, K.R.; Khanna, Neelam; Rao, B.S.S.; Ravi, V.; Murthy, R. Srinivasa; Vani, K.R.

    1995-01-01

    Microcephaly with mental retardation forms a distinct subgroup among mentally retarded individuals. The paucity of studies on the etiology of this condition in India made the investigators to study this population. It HTO aimed to study the demographic and clinical characteristics, and the etiologic pattern in children with microcepltaly and mental retardation The sample consisted of 82 children who were examined by detailed clinical assessment and a battery of investigations. A definite etiology could be found in 56% of children which have been grouped into prenatal embryonic, prenatal maternal/environmental, and birth and neonatal causes. Non-genetic causes were the most common. The prenatal etiology constituted nearly twice that of birth and neonatal causes. Majority of the etiologic factors were preventable. The role of socio-environmental factors has been discussed As a group, the neurological disorders were found to be the most commonly associated medical condition. Malnutrition, specially of severe degree, was significantly associated with this group compared to the general population. The study findings indicate that there is a significant place for prevention. PMID:21743719

  11. Fragile site X chromosomes in mentally retarded boys.

    Science.gov (United States)

    Moon, H. R.; Moon, S. Y.

    1993-01-01

    The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys. PMID:8240748

  12. Intestinal parasitic infections in an institution for the mentally retarded.

    Science.gov (United States)

    Gatti, S; Lopes, R; Cevini, C; Ijaoba, B; Bruno, A; Bernuzzi, A M; de Lio, P; Monco, A; Scaglia, M

    2000-07-01

    Of 550 mentally retarded patients in an Italian institution, 125 (23%) were found to be infected with intestinal parasites. The infections were most frequent in young men, those with severe mental retardation, the chronically institutionalized and those living in older wards. Ninety-four (75.2%) of the parasitised subjects were infected only with protozoa, 25 (20%) only with helminths, and six (4.8%) with protozoa and helminths. Entamoeba histolytica and E. dispar infections were detected, but at low prevalences; in-vitro culture in Robinson's medium and isoenzyme electrophoresis of the cloned amoebic isolates indicated one infection with E. histolytica (zymodeme XII) and two infections with E. dispar (zymodemes I and III). All three Entamoeba-positive subjects were asymptomatic cyst-passers. Antibodies to E. histolytica were detected in seven (1%) of the sera from the 550 patients examined; only one of these was a carrier of an E. dispar strain at the time of investigation. The low prevalences of all the parasitic infections and of the amoebic infections in particular (compared with those observed previously in institutions for the mentally retarded) reflect relatively good facilities and sanitary conditions, an adequate number of well trained staff and good control of the more susceptible subjects.

  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. Fragile X Mental Retardation Syndrome: Structure of the KH1-KH2 Domains of Fragile X Mental Retardation Protein

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    Valverde,R.; Poznyakova, I.; Kajander, T.; Venkatraman, J.; Regan, L.

    2007-01-01

    Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome. We show that the Ile304Asn mutation both perturbs the structure and destabilizes the protein.

  15. SELF-HELP GROUPS FOR PARENTS WITH MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    Vaska STANCHEVA-POPKOSTADINOVA

    1997-09-01

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

  16. 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)

  17. Deceased loved ones in the dreams of mentally retarded adults.

    Science.gov (United States)

    Turner, J L; Graffam, J H

    1987-11-01

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

  18. 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.

  19. VOCABULARY PROBLEMS OF THE LIGHTLY MENTALLY RETARDED SCHOOL AGED CHILDREN

    Directory of Open Access Journals (Sweden)

    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.

  20. Toxoplasmosis and mental retardation: report of a case-control study

    OpenAIRE

    Caiaffa,Waleska T.; Clea A. Chiari; Figueiredo, Ana R. P.; Fernando Orefice; Antunes,Carlos M.F.

    1993-01-01

    A case-control study evaluating the association between mental retardation and toxoplasmosis was conducted among 845 school children in Belo Horizonte, MG, Brazil. Cases (450) were mentally retarded children attending a public school for special education. Controls (395) were children from the regular public school system. Clinical and anthropometric examinations and interviews were carried out to determine risk factors for toxoplasmosis and mental retardation. Diagnosis of Toxoplasma gondii ...

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

    OpenAIRE

    Morávková, Šárka

    2006-01-01

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

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

    OpenAIRE

    Cynthia A. Orpen

    2003-01-01

    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 sentenc...

  3. Are the mentally retarded and learning disordered overrepresented among sex offenders and paraphilics?

    Science.gov (United States)

    Langevin, Ron; Curnoe, Suzanne

    2008-08-01

    A sample of 2,286 male sex offenders and paraphilics and 241 nonsex offenders was evaluated for the prevalence of mental retardation and learning disorders, using the full Wechsler IQ scales. The sex offenders were generally of average intelligence, and the mentally retarded were not overrepresented among them, but the learning disordered were. There were no differences among sex offenders and controls in overall IQ or in the percentage of mentally retarded or learning-disordered cases, suggesting that the learning difficulties are not peculiar to sex offenders. There was a bias in referral source, with more mentally retarded, borderline-retarded, and/or learning-disordered cases being referred by the Children's Aid Society, prisons, and the Crown, suggesting that referral source may play a significant role in evaluating intelligence and mental retardation among sex offenders; but the overrepresentation of learning disorders among criminals appears to be a significant phenomenon, regardless of referral source.

  4. Preliminary Study of Mental Retardation in Rovira (Tolima, Colombia

    Directory of Open Access Journals (Sweden)

    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.

  5. New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

    Energy Technology Data Exchange (ETDEWEB)

    Wittwer, B. [Institut fuer Humangenetik der Universitaet, Muenster (Germany); Kircheisen, R. [Institut fuer Humangenetik der Universitaet, Heidelberg (Germany); Leutelt, J.; Gal, A. [Institut fuer Humangenetik der Medizinischen Universitaet, Luebeck (Germany); Orth, U.; Gal, A. [Institut fuer Humangenetik, Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)

    1996-07-12

    X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone matuation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16. 9 refs., 5 figs., 2 tabs.

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

    Directory of Open Access Journals (Sweden)

    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.

  7. The prevalence of minor physical anomalies in mentally retarded children.

    Science.gov (United States)

    Ulovec, Z; Skrinjarić, I; Sosić, Z; Szirovicza, L; Jukić, J

    2002-06-01

    The prevalence of minor physical anomalies was examined in a sample of 109 children with idiopathic mental retardation (65 boys and 44 girls). Control group consisted of 246 healthy schoolchildren (123 boys and 123 girls) aged 8 to 12 years. A comparison was made between number of found minor anomalies per child (W1) and their Waldrop weight scores (W2) in healthy and mentally retarded (MR) children. The MR children were found to have a higher number of minor anomalies per child. In their group predominated those with four or more anomalies (56.9%), whereas among healthy children only 7.7% had four anomalies or more. In contrast to the high weighted score value (W2) of five or greater in 36.7% of MR children, it was absent in all control group subjects. There were highly significant differences between the MR and healthy children in the average value of the number of minor anomalies per child (W1) and in the average weighted score (W2). The average number of minor anomalies per child (W1) in MR and well children was 3.65 and 1.7, respectively. In MR children the average weighted score (W2) was 3.82, being 1.46 in healthy children. Our results suggest that common etiological factors, which had led to a physical and mental disorder, were active early in the development of MR children. The finding of high incidence of multiple minor anomalies in MR children indicates that genetic factors may play an important role in the etiology of the underlying disorder in the child group studied.

  8. THE MENTALLY RETARDED CHILD, A PSYCHOLOGICAL APPROACH. MCGRAW-HILL SERIES IN PSYCHOLOGY.

    Science.gov (United States)

    ROBINSON, HALBERT B.; ROBINSON, NANCY M.

    PRESENTING A PSYCHOLOGICAL APPROACH TO MENTAL RETARDATION, THIS TEXT BEGINS WITH A DISCUSSION OF THEORIES OF INTELLIGENCE, PROBLEMS OF DEFINITION, AND THE CURRENT STATUS OF THE FIELD OF MENTAL RETARDATION. A SECTION ON ETIOLOGY AND SYNDROMES PRESENTS INFORMATION ON GENETIC FACTORS AND GENETIC SYNDROMES AND THE PHYSICAL AND PSYCHOLOGICAL…

  9. Institutionalization, Involuntary Sterilization, and Mental Retardation: Profiles from the History of the Practice.

    Science.gov (United States)

    Smith, David J.; Polloway, Edward A.

    1993-01-01

    This study analyzes data on 212 individuals with mental retardation who were sterilized while residents of the Central Virginia Training Center and discharged from the facility between 1969 and 1989. The analysis includes gender, age at and date of sterilization, level of mental retardation, and location of subsequent discharge. (Author/JDD)

  10. Body-Rocking and Other Habits of College Students and Persons with Mental Retardation.

    Science.gov (United States)

    Berkson, Gershon; Rafaeli-Mor, Nilly; Tarnovsky, Sofia

    1999-01-01

    A comparison on the body-rocking of 21 college students and 22 individuals with mental retardation found a greater proportion of the people with mental retardation were less sensitive to situational factors, demonstrated atypical collateral behaviors, engaged in less leg-kicking, and executed their body-rocking with larger amplitudes. (Author/CR)

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

    Science.gov (United States)

    Oka, Kohei; Miura, Toshiaki

    2008-01-01

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

  12. Evaluation of a Weight Loss Treatment Program for Individuals with Mild Mental Retardation

    Science.gov (United States)

    Sailer, Angela B.; Miltenberger, Raymond G.; Johnson, Brigitte; Zetocha, Kim; Egemo, Kristin; Hegstad, Holly

    2006-01-01

    Obesity is a major problem for people in the United States. Individuals with mental retardation also are prone to obesity. The most successful programs for treating obesity typically are treatment packages consisting of multiple behavioral components. Research in the area of weight loss and mental retardation has not evaluated programs for…

  13. School Psychologists' Perceptions and Experiences regarding Students with Mental Retardation and Depression

    Science.gov (United States)

    McCall, Paula J.

    2010-01-01

    An exploration of use and believed effectiveness of interventions as well as personal interest and perceived effectiveness in working with (1) students with average IQs and depression, (2) students with mental retardation, and (3) students with both mental retardation and depression was conducted via a nationwide survey of 131 school…

  14. Clozapine in Three Individuals with Mild Mental Retardation and Treatment-Refractory Psychiatric Disorders.

    Science.gov (United States)

    Pary, Robert J.

    1994-01-01

    Although clozapine is a drug specifically approved for people with schizophrenia, it has not been systematically evaluated with dually diagnosed individuals having mental retardation. This article reviews the drug's use in the general population, discusses potential difficulties in prescribing it for individuals with mental retardation, and…

  15. Beliefs of Jewish-Oriental Mothers Regarding Children Who Are Mentally Retarded.

    Science.gov (United States)

    Stahl, Abraham

    1991-01-01

    This paper presents the beliefs of Israeli residents of Oriental (North African or Middle Eastern) origin regarding children who are mentally retarded. Based on written materials and interviews with 40 mothers, the paper discusses beliefs about mental retardation's causes, blame, treatment, and recovery. Methods of dealing with parents of pupils…

  16. A Review of Treatment Research for Aggressive and Disruptive Behavior in the Mentally Retarded.

    Science.gov (United States)

    Matson, Johnny L.; Gorman-Smith, Deborah

    1986-01-01

    In a review of current treatment research on aggression of mentally retarded persons, age and level of mental retardation were significant factors in predicting treatment outcome. Some types of behaviors were treated more frequently than others, with inappropriate verbal responses being the most common, followed by aggression toward others and…

  17. 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

  18. The Independent Effect of Paternal Age on the Incidence of Mental Retardation.

    Science.gov (United States)

    Phillips, William L.

    Because research had indicated that there is a correlation between older fathers and Down's Syndrome, this study attempted to generalize that knowledge to other genetically attributable cases of mental retardation. Fathers (N=222) who had institutionalized offspring labeled as mentally retarded and a comparison group of 248 fathers were analyzed.…

  19. Capital Punishment and Offenders with Mental Retardation: Response to the Penry Brief.

    Science.gov (United States)

    Calnen, Terrence; Blackman, Leonard S.

    1992-01-01

    This paper responds to a court brief of amici curiae asserting that mental retardation reduces culpability in capital offenses. The paper argues that the position makes unwarranted categorical assumptions about mental retardation, fails to consider individualized and situation-specific determinants of culpability, and undermines respect and value…

  20. Effects of Physical Training and Calcium Intake on Bone Mineral Density of Students with Mental Retardation

    Science.gov (United States)

    Hemayattalab, Rasool

    2010-01-01

    The purpose of this study was to investigate the effects of physical training and calcium intake on bone mineral density (BMD) of students with mental retardation. Forty mentally retarded boys (age 7-10 years old) were randomly assigned to four groups (no differences in age, BMD, calcium intake and physical activity): training groups with or…

  1. 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),…

  2. 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...

  3. Teaching idiom comprehension to children with mental retardation.

    Science.gov (United States)

    Ezell, H K; Goldstein, H

    1992-01-01

    This study examined the effectiveness of a training program designed to teach children with mild mental retardation the meaning of 12 idiomatic phrases, such as "to hit the sack." Four 9-year-old children participated in the training. A multiple baseline design across subjects and across three sets of idioms was implemented. Training consisted of presenting both literal and idiomatic contexts in the form of story narratives, and asking the children to explain the outcome of the story and to select one picture from an array of four that represented the outcome. All children demonstrated learning, although 1 child required review procedures to facilitate maintenance. Children were able to generalize their receptive learning to an expressive task with varying levels of success. All children demonstrated an ability to understand the learned idioms when presented in unfamiliar contexts. PMID:1582965

  4. Teaching idiom comprehension to children with mental retardation.

    Science.gov (United States)

    Ezell, H K; Goldstein, H

    1992-01-01

    This study examined the effectiveness of a training program designed to teach children with mild mental retardation the meaning of 12 idiomatic phrases, such as "to hit the sack." Four 9-year-old children participated in the training. A multiple baseline design across subjects and across three sets of idioms was implemented. Training consisted of presenting both literal and idiomatic contexts in the form of story narratives, and asking the children to explain the outcome of the story and to select one picture from an array of four that represented the outcome. All children demonstrated learning, although 1 child required review procedures to facilitate maintenance. Children were able to generalize their receptive learning to an expressive task with varying levels of success. All children demonstrated an ability to understand the learned idioms when presented in unfamiliar contexts.

  5. Increasing mentally retarded adolescents' verbalizations about current events.

    Science.gov (United States)

    Keilitz, I; Tucker, D J; Horner, R D

    1973-01-01

    The effects of antecedent and consequent events on the verbal behavior of three institutionalized mentally retarded adolescents were examined. Verbal statements, related to current national and international events, were recorded after exposures to television news programs. The study examined the accuracy of verbalizations as a function of: (1) exposures to television news presentations in massed (i.e., viewing the entire news program before an opportunity to describe it) versus distributed from (i.e., viewing each news item separately with each followed by an opportunity to describe it), and (2) contingent tokens and social praise for correct verbal responses (i.e., statements corresponding to news items presented). Both the temporal distribution of news presentations and the reinforcement procedures improved the accuracy of verbal statements emitted by the subjects.

  6. [Prevalence of mental retardation in teenagers with dissocial conduct disorder].

    Science.gov (United States)

    Puerta, I C; Martínez-Gómez, J; Pineda, D A

    Prevalence of adolescents with conduct disorder (CD) has been calculated between 4 y 10%. To estimate the prevalence of mental retardation in Colombian adolescent offenders, using the Wechsler Intelligence Scales for Children Revised (WISC R). 106 male adolescent offenders with CD, aged 12 to 16 years, and attending to institutions of re education in Medell n Colombia were selected in a randomized approach. WISC R Hispanic version was administered to the sample, using 4 verbal (information, vocabulary, similarities and arithmetic) and 4 performance (Picture completion, block design, picture arrangement, and digit symbol) subtests for calculating verbal, performance and full scale IQs (VIQ, PIQ, and FSIQ), according to the manual instructions. 43 participants (40.6%) obtained a FSIQ institutionalized adolescents offenders had low intellectual functioning, which may be interfere with the re education programs.

  7. 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

  8. A Comparison of Occupational Stress Correlates as Reported by Teachers of Mentally Retarded and Nonmentally Retarded Handicapped Students.

    Science.gov (United States)

    Fimian, Michael J.

    1983-01-01

    The statewide (Connecticut) survey of 365 teachers of mentally retarded (MR) and nonretarded handicapped (non-MR) students indicated such results as that MR teachers reported stress source levels comparable to or less than levels of non-MR teachers, but reported stress manifestation levels comparable to or greater than those of non-MR teachers.…

  9. Toxoplasmosis and mental retardation: report of a case-control study

    Directory of Open Access Journals (Sweden)

    Waleska T. Caiaffa

    1993-06-01

    Full Text Available A case-control study evaluating the association between mental retardation and toxoplasmosis was conducted among 845 school children in Belo Horizonte, MG, Brazil. Cases (450 were mentally retarded children attending a public school for special education. Controls (395 were children from the regular public school system. Clinical and anthropometric examinations and interviews were carried out to determine risk factors for toxoplasmosis and mental retardation. Diagnosis of Toxoplasma gondii infection was based upon an indirect immunofluorescent test (IFA; 55% of cases and 29% of controls were positive. The Relative Odds of mental retardation in children with positive serology was 3.0 (95% CI 2.2-4.0. Maternal exposure to cats and contact with soil were associated with an increased risk of mental retardation. Retinochoroiditis was fourfold more prevalent among cases than controls and was only diagnosed in T. gondii IFA positive participants. Congenital toxoplasmosis, in its subclinical form, appears to be an important component in the etiology of mental retardation, especially in high risk (lower socio-economic groups. The population attributable risk was estimated as 6.0 - 9.0%, suggesting the amount of mental retardation associated with this infection.

  10. 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.

  11. EARLY DETECTION OF DISABILITY AND FAMILY PLANNING WITH PARTICULAR CONCERN ON MENTAL RETARDATION ILLUSTRATED BY CASE PRESENTATION

    Directory of Open Access Journals (Sweden)

    Stojan DARKOVSKI

    1997-12-01

    Full Text Available The problems of mentally retarded persons which we encounter in our everyday work and several examples with drastically negative consequences of not planning the family have induced us to report our view points and suggestions about the necessity and importance of early detection of disability and necessary actions to help mentally retarded persons especially females in family planning and protection from sexual abuse.The negative consequences are reported by illustration of one case of mentally retarded mother with seven mentally retarded children and herself born illegitimately also by mentally retarded mother.

  12. Accurate distinction of pathogenic from benign CNVs in mental retardation.

    Directory of Open Access Journals (Sweden)

    Jayne Y Hehir-Kwa

    2010-04-01

    Full Text Available Copy number variants (CNVs have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic consequences are still poorly understood. Rare CNVs have been reported as a frequent cause of neurological disorders such as mental retardation (MR, schizophrenia and autism, prompting widespread implementation of CNV screening in diagnostics. In previous studies we have shown that, in contrast to benign CNVs, MR-associated CNVs are significantly enriched in genes whose mouse orthologues, when disrupted, result in a nervous system phenotype. In this study we developed and validated a novel computational method for differentiating between benign and MR-associated CNVs using structural and functional genomic features to annotate each CNV. In total 13 genomic features were included in the final version of a Naïve Bayesian Tree classifier, with LINE density and mouse knock-out phenotypes contributing most to the classifier's accuracy. After demonstrating that our method (called GECCO perfectly classifies CNVs causing known MR-associated syndromes, we show that it achieves high accuracy (94% and negative predictive value (99% on a blinded test set of more than 1,200 CNVs from a large cohort of individuals with MR. These results indicate that this classification method will be of value for objectively prioritizing CNVs in clinical research and diagnostics.

  13. 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.

  14. 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.

  15. Does Retardation Mean Dumb? Children's Perceptions of the Nature, Cause, and Course of Mental Retardation.

    Science.gov (United States)

    Goodman, Joan F.

    1989-01-01

    When interviewed, 105 third-grade students indicated that they did not view retardation as a set of behaviors, but as a trait, defined abstractly and perceived to be both predetermined and largely irreversible through personal effort. Children did not assume that being retarded excluded being pretty, athletic, or smart. (Author/JDD)

  16. The Perceptual- and Gross-Motor Ability of Mentally Retarded Children.

    Science.gov (United States)

    Geiger, William L.

    Compared were the perceptual and gross motor abilities of 30 mentally retarded and 25 nonretarded 10- to 12-year-old children. Performance data on such motor tasks as the agility run, 20-yard dash, obstacle course, and target hop were recorded, with separate data for the retarded Ss on the basis of etiological classification (Down's Syndrome,…

  17. Preliminary Data on the Presence of Neuropsychological Deficits in Adults who are Mentally Retarded.

    Science.gov (United States)

    McCaffrey, Robert J.; Isaac, Walter

    1985-01-01

    The performance of 10 retarded adults was examined using the Luria-Christensen neuropsychological assessment battery. The general finding was signs of frontal lobe dysfunction in all Ss. In addition, the results of three of the cases were suggestive of a vascular etiology. Implications for diagnosis and classification of mental retardation are…

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

    NARCIS (Netherlands)

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

    1989-01-01

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

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

    Science.gov (United States)

    Ellis, Norman R.; Wooldridge, Peter W.

    1985-01-01

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

  20. A Guide to Curriculum Adjustment for Mentally Retarded Children. Bulletin, 1936, No. 11

    Science.gov (United States)

    Beaman, Florence N.; Hollingworth, Leta S.; Berry, Charles Scott; Kugler, Edna M.; Bryne, May E.; Moore, Thomas V.; Dickson, Virgil E.; Post, Meta Anderson; Greene, Ransom A.; Race, Henrietta V.; Hoff, Lillian M.; Schlotter, Bertha E.; Wygant, Alice W.

    1936-01-01

    This handbook is a cooperative project, the outcome of a conference called by the United States Office of Education to consider the problems of curriculum adjustment for mentally retarded children. The members of the conference are the joint authors of this bulletin. In October 1934, 13 leaders in the education of retarded children, working in…

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

    Directory of Open Access Journals (Sweden)

    Mohammad Kazem Atefvahid

    2017-03-01

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

  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

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  4. 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.

  5. 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)

  6. 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.

  7. Comparison of Psychopathology in the Mothers of Autistic and Mentally Retarded Children

    National Research Council Canada - National Science Library

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

    2002-01-01

    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...

  8. A study of cognitive development and behavior problems in mentally retarded children

    National Research Council Canada - National Science Library

    Hashino, K; Iida, J; Iwasaka, H; Ito, N; Sakiyama, S; Kitera, K; Matsumoto, H; Tsujimoto, H; Ikawa, G; Kishimoto, T

    1997-01-01

    ...), and other developmental scales. Behavior problems were also examined. The present study reports on the utility of Ohta's stage in non-autistic children, and the relationship between cognitive development level and behavior problems in mentally retarded children...

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

    NARCIS (Netherlands)

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

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

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

    Science.gov (United States)

    Campbell, Edward M.; Meyer, Philip A.

    1981-01-01

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

  11. Adaptive behavior assessment and the diagnosis of mental retardation in capital cases.

    Science.gov (United States)

    Tassé, Marc J

    2009-01-01

    There are essentially three main prongs to the definition and diagnosis of the condition known as mental retardation: deficits in intellectual functioning, deficits in adaptive behavior, and onset of these deficits during the developmental period. The U.S. Supreme Court ruled in 2002 in a decision known as Atkins v. Virginia that it was essentially cruel and unusual punishment to execute a person with mental retardation, thus violating the Eighth Amendment of the American Constitution. For the purpose of this article, we focused on the issues as they relate to the second prong of the definition of mental retardation, that is, adaptive behavior. We present and discuss the primary concerns and issues related to the assessment of adaptive behavior when making a diagnosis of mental retardation in an Atkins claim case. Issues related to standardized assessment instruments, self-report, selection of respondents, use of collateral information, malingering, and clinical judgment are discussed.

  12. Use of Structured Teaching for Treatment of Children with Autism and Severe and Profound Mental Retardation.

    Science.gov (United States)

    Panerai, Simonetta; Ferrante, Letizia; Caputo, Valeria; Impellizzeri, Carmela

    1998-01-01

    Multidimentional assessment procedure was used to evaluate effects of the Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) program principles and strategies on 18 children and adolescents with autism after 12 and 18 months of structured intervention. Results showed an increase in working skills and functional…

  13. THEORETICAL BASSES OF SPEECH ACTIVITY OF MENTALLY RETARDED CHILDREN OF PRIMARY SCHOOL AGE

    OpenAIRE

    Oksana Boryak

    2016-01-01

    The article deals with the problem of forming and correction of speech activity of mentally retarded children of primary school age. The author is presented an integrated system of correction of speech development on the basis of the results of the study of speech development level of mentally retarded children of primary school within the modern educational space. The present system has a block structure with comprises: 1. Theoretical and methodological foundations of the technology of formi...

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

    OpenAIRE

    Santos, C.B.; Boy, R.T.; Santos, J.M.; Silva, M.P.S.; Pimentel, M.M.G.

    2000-01-01

    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 Tu...

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

    OpenAIRE

    S Askari Shahed; K Karimzadeh Shirazi; SA Mousavizadeh

    2016-01-01

    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 qual...

  16. Upper gastrointestinal tract bleeding in institutionalized mentally retarded adults. Primary role of esophagitis.

    Science.gov (United States)

    Orchard, J L; Stramat, J; Wolfgang, M; Trimpey, A

    1995-01-01

    Upper gastrointestinal (UGI) tract bleeding is a common reason for hospitalization of mentally retarded adults. The purpose of this study was to determine the frequency and cause of and risk factors for UGI tract bleeding in institutionalized mentally retarded adults admitted to our hospital. Case-control study, with a retrospective review of medical records. Inner-city tertiary care hospital. Mentally retarded adults who reside in one of three long-term care facilities. Data on demographic features, clinical features, and concurrent medical conditions were collected on mentally retarded adults admitted to our hospital for UGI tract bleeding (n = 40). Data from these patients were compared with those from a control group of mentally retarded adults admitted for nonbleeding conditions (n = 124). Endoscopic data were reviewed on the patients who bled to further clarify the causes of UGI tract bleeding. The patients who bled were compared with those who did not bleed using the chi 2 and Mann-Whitney rank sum tests. Upper gastrointestinal tract bleeding was the most common reason for hospitalization in this patient population. Such bleeding was most commonly caused by erosive esophagitis (70% of patients who bled). Conditions associated with an increased risk for UGI tract bleeding were hiatal hernia, reduced activity, incontinence, hypoalbuminemia, kyphoscoliosis, and spastic quadriplegia. Upper gastrointestinal tract bleeding is a common cause of hospitalization in mentally retarded adults and is usually due to erosive esophagitis. It is hoped that vigorous efforts to treat gastroesophageal reflux disease may reduce hospitalization in these patients.

  17. APPRAISAL OF THE ORTHOGRAPHY LEVEL OF THE HANDWRITING IN EASY MENTAL RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    Aneta HRISTOVA

    2009-11-01

    Full Text Available Mental retardation is a very complex and specific society problem that appears in the earliest period of the child development. Speech represents one of the most important human qualities and undoubtedly a need for each individual, therefore, the logical conclusion is that it is essential for everyone, even for the mentally retarded individual as well.It is a fact that the speech deficit is one of the general and serious problems with mentally retarded children, which results in damaged, underdeveloped and late development of their speech. Therefore, these conditions also lower success in orthography level of handwriting. That is why we decided to use instruments which the special rehabilitation diagnostic offers, to evaluate the orthography level of handwriting of the mildly mentally retarded pupils in special primary schools, and to compare the obtained results with the success in Macedonian language, gender and the age of the pupil, in order to view their connection and continuance in their developing period.Many researches, as well as this one, have shown that the disorthography in a huge percentage is found in children with mild mental retardation.The results of the research have shown a low orthography level of the handwriting in children with mild mental retardation, which is dependant on the class-age, sex and the success in Macedonian language.

  18. 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.

  19. The Number of Mentally Retarded--A Result of Steps Taken by Society? Changes in the Age Structure among Mentally Retarded Persons in Sweden 1973-1982.

    Science.gov (United States)

    Wallner, Teut

    1988-01-01

    From 1973 to 1983 the number and proportion of mentally retarded persons in the total population of Sweden has not changed, but there are fewer children and young persons and more adults. The changes are hypothetically attributed to prenatal diagnosis, improved obstetrical techniques, and the introduction of antibiotics in 1948. (Author/VW)

  20. Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.

    Science.gov (United States)

    Mosrati, Mohamed Ali; Schrauwen, Isabelle; Kamoun, Hassen; Charfeddine, Ilhem; Fransen, Erik; Ghorbel, Abdelmonem; Van Camp, Guy; Masmoudi, Saber

    2012-12-01

    Hearing loss is a common congenital anomaly with an incidence of 1 in 1000 live births. It has been described together with several other clinical features as fortuitous association or commune genetic syndrome. In this study, we investigated a consanguineous Tunisian family with moderate to profound congenital hearing loss, mental retardation and autistic behaviors. We performed a genome wide microarray analysis study using approximately 300,000 SNPs in a common set of 7 invidious of this family. We identified regions of suggestive linkage with hearing loss on chromosomes 6p12 and 7q34. In addition, we identified a deletion on chromosome 8p in the two autistic individuals. This report presents an illustration of how consanguinity could increase familial clustering of multiple hereditary diseases within the same family. The application of next generation sequencing for this family seems to be a good strategy for further analysis leading to the identification of candidate genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  1. 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…

  2. Perceptual-Motor Testing of Mentally Retarded Persons

    Science.gov (United States)

    Shurrager, Phil S.; And Others

    1975-01-01

    Compared were the performances on a visual-motor task of 130 8-to 30-year-old retarded persons with separate etiologies but similar intelligence levels (in five categories ranging from IQ 30-91). (Author/CL)

  3. Genetic mental services for retardation. patIents with seve.re

    African Journals Online (AJOL)

    1982-01-04

    Jan 4, 1982 ... 9%) causing mental retardation, and that approximately one- third of the X-linked conditions may be prevented by genetic counselling. Another relatively common X-linked mental retar- dation condition is the Martin-Bell syndrome which can be diagnosed by the detection of a fragile site on the X chromo-.

  4. 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)

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

    Science.gov (United States)

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

    2003-01-01

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

  6. 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.

  7. Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

    Science.gov (United States)

    Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar

    2011-10-01

    Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

  8. Factors affecting the health of people with mental retardation and ways of their prevention

    Directory of Open Access Journals (Sweden)

    Letunovskaya S.V.

    2013-06-01

    Full Text Available Empirical evidence obtained by researchers in recent years indicates the necessity of increasing the efficiency of prophylaxes in people with mental retardation. In a related move foreign psychology and pedagogy are fully engaged in study of this category of people. The review presented in this study regards the sedentary lifestyle, overweight and obesity, tobacco smoking, insecure sex, stress in children and adults with intellectual retardation; their incidence, peculiarities of their pressure; methods of preventing their negative influences.

  9. 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

  10. 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…

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

    African Journals Online (AJOL)

    Sometimes, problems arise in the marital life and in social participation. The research showed that most parents suffered from degrees of anxiety and depression ranging mainly from severe to moderate. The number, age or degree of retardation of the children did not affect the social and psychological impacts on the ...

  12. Use of the 16PF with Mentally Retarded Adults

    Science.gov (United States)

    Muhlern, Thomas J.

    1975-01-01

    The experimental form of the Sixteen Personality Factor Questionnaire (16PF) for a low literate population was verbally administered to a population of retarded adults. Teacher ratings were also obtained on the most important personality dimensions involved in the 16PF. Results suggested a modest degree of agreement. (Author)

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

    Directory of Open Access Journals (Sweden)

    Santos C.B.

    2000-01-01

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

  14. 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

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

  15. 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. Copyright 2003 Wiley-Liss, Inc.

  16. 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.

  17. 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.

  18. 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.

  19. Competence to confess: measuring understanding and suggestibility of defendants with mental retardation.

    Science.gov (United States)

    Everington, C; Fulero, S M

    1999-06-01

    Groups of individuals with or without mental retardation, all of whom were currently on probation, were tested with measures of comprehension of Miranda rights and of suggestibility. As in previous work, participants with mental retardation were found to be less able to comprehend their Miranda rights. In addition, they were significantly more likely to respond to suggestive questioning and to change their answers. Significant correlations were found between measures of comprehension of Miranda rights and measures of suggestibility. Implications of these results were discussed.

  20. 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.

  1. 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.    

  2. Comparison of Irrational Believes between Mothers of Severe or Profound Mentally Handicapped Children with Healthy Children Mothers

    Directory of Open Access Journals (Sweden)

    Behrouz Hivadi

    2007-10-01

    Full Text Available Objective: The purpose of present research was the comparison of mothers irrational believes with severe or profound mentally handicapped child and mothers with normal child from 6 to14 years old in Tehran city. Materials & Methods: This study was an analytical, cross – sectional and comparative (case – control research. From mothers with severe or profound mentally handicapped child who had refered to Tehran welfare services centers, 80 mothers were selected by regular randomized sampling from two rehabilitation centers and 80 mothers with normal child were selected for peering with the group of testimonial from schools areas of east, west, south, north and center of Tehran, through multi - stage cluster sampling in for variables of: age of mothers, educational levels, the location of living and the number of children. They answered to questionnaire of irrational believes of jons (IBT. Analysis of data was done by descriptive and infringing statistics methods (Independent T test, U Mann Whitney, Chi-square and fisher. Results: The findings showed that: there are significantly differences in total irrational believes and irrational believes of blame proneness, frustration reactive, anxious over concern, problem avoiding and dependency, perfectionism between two groups of mothers (P<0/05. There was no significant difference in irrational believes between mothers who had mental handicap daughter and mothers who had mental handicap son (P=0/314. There was no significantly difference between two groups of mothers in four believes of demand for approval (P=0/737, high-self expectation (P=0/126, emotional irresponsibility (P=0/727, helplessness for change (p=0/283. Conclusion: Irrational believes and many its sub scales. In mothers of severe or profound mental handicap children were more than mothers with normal child. But believes of demand for approval, high self expectation, emotional irresponsibility, helplessness for change in mothers with

  3. Implicit Mentalizing Persists beyond Early Childhood and Is Profoundly Impaired in Children with Autism Spectrum Condition.

    Science.gov (United States)

    Schuwerk, Tobias; Jarvers, Irina; Vuori, Maria; Sodian, Beate

    2016-01-01

    Implicit mentalizing, a fast, unconscious and rigid way of processing other's mental states has recently received much interest in typical social cognitive development in early childhood and in adults with autism spectrum condition (ASC). This research suggests that already infants implicitly mentalize, and that adults with ASC have a sustained implicit mentalizing deficit. Yet, we have only sparse empirical evidence on implicit mentalizing beyond early childhood, and deviations thereof in children with ASC. Here, we administered an implicit mentalizing eye tracking task to assess the sensitivity to false beliefs to a group of 8-year-old children with and without ASC, matched for chronological age, verbal and non-verbal IQ. As previous research suggested that presenting outcomes of belief-based actions leads to fast learning from experience and false belief-congruent looking behavior in adults with ASC, we were also interested in whether already children with ASC learn from such information. Our results provide support for a persistent implicit mentalizing ability in neurotypical development beyond early childhood. Further, they confirmed an implicit mentalizing deficit in children with ASC, even when they are closely matched to controls for explicit mentalizing skills. In contrast to previous findings with adults, no experience-based modulation of anticipatory looking was observed. It seems that children with ASC have not yet developed compensatory general purpose learning mechanisms. The observed intact explicit, but impaired implicit mentalizing in ASC, and correlation patterns between mentalizing tasks and executive function tasks, are in line with theories on two dissociable mentalizing systems.

  4. Basketball ability testing and category for players with mental retardation: 8-month training effect.

    Science.gov (United States)

    Franciosi, Emanuele; Gallotta, Maria Chiara; Baldari, Carlo; Emerenziani, Gian Pietro; Guidetti, Laura

    2012-06-01

    Although sport for athletes with mental retardation (MR) is achieving an important role, the literature concerning basketball tests and training is still poor. The aims of this study were to verify whether the basketball test battery could be an appropriate modality to classify the players in the Promotion (Pro) category, to assess basketball abilities before (PRE) and after (POST) an 8-month training in players with MR in relation to Competitive (Comp) and Pro categories, to analyze the variation of specific basketball abilities based on subjects' MR diagnosis. Forty-one male basketball players with MR (17 Comp and 24 Pro; age range 18-45 years; MR: 15% mild, 54% moderate, 29% severe, and 2% profound) were assessed PRE and POST training through the basketball test battery, which assessed 4 ability levels of increasing difficulty (from I to IV), each one characterized by the analysis of fundamental areas (ball handling, reception, passing, and shooting). Level I was significantly changed after the intervention period regardless of the Category, whereas shooting was affected by the interaction between Category and Intervention. The results showed significant differences between categories in the scores of individual global, level I, level II, level III, and in all fundamental areas. Individual global score in both categories significantly increased. The players of Comp significantly improved in level III, in ball handling, reception, passing, and shooting scores. The players of Pro improved significantly in level II, in ball handling, reception, and passing scores. Individual global, ability levels I-III, and fundamental area scores were negatively correlated to the MR level indicating that the players with a lower MR obtained higher ability scores. In conclusion, it was found that the basketball test battery could be useful for improving and monitoring training in both Comp and Pro players.

  5. Using basketball test battery to monitor players with mental retardation across 2 sports seasons.

    Science.gov (United States)

    Baldari, Carlo; Franciosi, Emanuele; Gallotta, Maria Chiara; Emerenziani, Gian Pietro; Reis, Victor Machado; Guidetti, Laura

    2009-11-01

    Although sport for athletes with mental retardation (MR) is achieving an important role, literature concerning basketball test and training is still poor. The aims of this study were to assess basketball ability before (PRE) and after (POST) a 6-month training in athletes with MR across 2 sports seasons (ss) and to analyze the variation of basketball abilities by subjects' MR level. Fifteen trained basketball players with MR participated (11 men and 4 women; age range 19-43 years; MR: 3 Mild, 8 Moderate, 3 Severe, and 1 Profound). Athletes were tested PRE and POST a 6-month training during 2 following sports seasons (ss1 and ss2). The tests assessed 4 ability levels, each one characterized by the analysis of 4 fundamental areas (ball handling, reception, passing, and shooting), divided into 5 specific components. The athletes' global score improved after training in both ss1 (41.5 +/- 12.0 vs. 48.6 +/- 15.4; p < 0.01) and ss2 (41.7 +/- 12.4 vs. 50.8 +/- 16.2; p < 0.01). Levels II, III, and IV showed an increase both after each ss and the 2 following ss (p < 0.01). No significant difference was found between POST-ss1 and POST-ss2 due to score decrease during the resting period between the 2 ss. In both ss, global and level scores were negatively correlated to MR level indicating that athletes with a lower MR obtained higher ability scores. In conclusion, a 6-month training caused a general improvement, especially evident in levels II and III in both ss. Global and level scores were negatively correlated to MR level (p < 0.05) indicating that athletes with a lower MR obtained higher scores. Therefore, the basketball test battery could be useful for improving and monitoring training.

  6. 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)…

  7. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

    NARCIS (Netherlands)

    Sismani, C.; Syrrou, M.; Christodoulou, K.; Hamel, B.C.J.; Chelly, J.; Yntema, H.G.; Bokhoven, J.H.L.M. van; Tzoufi, M.; Georgiou, I.; Patsalis, P.C.

    2003-01-01

    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

  8. 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…

  9. 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…

  10. Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.

    Science.gov (United States)

    Stoll, C; Alembik, Y; Repetto, M

    1998-01-01

    Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in which are combined in a syndrome or which do not fit in any of the known syndromes. We report a child with congenital bilateral deficiency of the fibula and an unusual combination of features. The patient, a girl, was born after an uneventful pregnancy at term to young healthy parents. Absent fibulae were noted at birth. At age 4 she was found to have growth retardation with delayed bone age, overlapping, short toes, syndactyly of the toes, clinodactyly of the 5th and 2nd fingers, syndactyly of the three last fingers and facial dysmorphia. Mental retardation was present. Karyotype and laboratory investigations were normal. Differential diagnosis included syndromes with aplasia or hypoplasia of fibula, but none of these syndromes seemed to include the girl's features.

  11. 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…

  12. Tremor Frequency Profile as a Function of Level of Mental Retardation

    Science.gov (United States)

    Sprague, Robert L.; Deutsch, Katherine M.; Newell, Karl M.

    2007-01-01

    The characteristic slowness of movement initiation and execution in adult individuals with mental retardation may be driven by the slower frequency profile of the dynamics of the system. To investigate this hypothesis, we examined the resting and postural finger tremor frequency profile (single and dual limb) of adults as a function of level of…

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

    NARCIS (Netherlands)

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

    2008-01-01

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

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

    Science.gov (United States)

    Burt, Diana Byrd; And Others

    1992-01-01

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

  15. 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…

  16. Loneliness, Depression, and Social Skills among Students with Mild Mental Retardation in Different Educational Settings.

    Science.gov (United States)

    Heiman, Tali; Margalit, Malka

    1998-01-01

    This study assessed 575 students with mild mental retardation in three educational settings. Their loneliness, depression, and social skills were assessed through student self-reports and peer perception of social status. Among findings were that preadolescent students in self-contained classes in regular schools exhibited more loneliness and…

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

    NARCIS (Netherlands)

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

    2007-01-01

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

  18. 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.…

  19. 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,…

  20. Meta-Analytic Study on Treatment Effectiveness for Problem Behaviors With Individuals Who Have Mental Retardation

    NARCIS (Netherlands)

    Didden, R.; Duker, P.C.C.; Korzilius, H.P.L.M.

    1997-01-01

    Meta-analysis of 482 empirical studies on treatment of problem behaviors of individuals with mental retardation was conducted. A metric of treatment effectiveness was computed for 1,451 comparisons between baselines and treatments, 34 topographies of problem behavior, and 64 treatment procedures.

  1. 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…

  2. The Evaluation of Athlete and Non-Athlete Mentally Retarded Children’s Dynamic Balance Level

    Directory of Open Access Journals (Sweden)

    Sinan Akın

    2016-04-01

    Full Text Available Balance is an extremely important fundamental skill for the survival of the individual’s life. The main purpose of this study was to evaluate dynamic balance of mentally retarded children who participated in sports active and regularly (athlete and did not participate in sports actively (non-athlete. The study group was consisted of total 29 mentally retarded children, 14 athletes and 15 non-athletes. In this study, the average ages of athletes were 13.25 and non-athletes’ were 12.95. As a data collection tool “Star Excursion Balance Test” was used. The obtained data was evaluated using t-test for the independent groups. The results showed a statistically significant difference between groups according to all sub-dimension of star excursion balance test (p< 0.05. It was determined that, the average values of mentally retarded athletes were higher than non-athletes. Consequently, it can be said that regular physical activity has a significant effect for improvement in balance skills of individuals with mentally retarded.

  3. 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,

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

    Science.gov (United States)

    Wiggins, J. D.

    1976-01-01

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

  5. 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…

  6. 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,…

  7. 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.

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

    Science.gov (United States)

    Friedman, Paul, Ed.; Beck, Ronna Lee, Ed.

    Included in the booklet on mental retardation and the law are reports on 11 new court cases and updated information on 35 court cases reported in previous issues. Court cases cover the following issues: architectural barriers, commitment, criminal law, education, employment, guardianship, protection from harm, sterilization, treatment, and zoning.…

  9. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

    NARCIS (Netherlands)

    Laumonnier, F.; Ronce, N.; Hamel, B.C.J.; Thomas, P.; Lespinasse, J.; Raynaud, M.; Paringaux, C.; Bokhoven, J.H.L.M. van; Kalscheuer, V.M.M.; Fryns, J.P.; Chelly, J.; Moraine, C.; Briault, S.

    2002-01-01

    Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region

  10. 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

  11. 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)

  12. PMSP: A Program To Develop Perceptive-Motor Skills in Adolescents and Adults with Mental Retardation.

    Science.gov (United States)

    Pallisera, Maria

    This monograph describes the Perceptive Motor Skills Program (PMSP) being used with adolescents and adults having mental retardation in Catalonia, Spain. The program is based on the following principles: chronologically age appropriate activities; use of daily living tools; multiple objectives and working materials; and balance between…

  13. Informal Support Networks among Aging Persons with Mental Retardation: A Pilot Study.

    Science.gov (United States)

    Krauss, Marty Wyngaarden; Erickson, Marji

    1988-01-01

    Data collected on the informal support networks of 49 aging persons with mental retardation indicated that persons living with family had significantly smaller support networks (composed primarily of family members), while those living in community residences or institutions had informal support networks composed equally of family, friends, and…

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

    Science.gov (United States)

    Harper, Dennis C.; Wadsworth, John S.

    1990-01-01

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

  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. High prevalence of SLC6A8 deficiency in X-linked mental retardation

    NARCIS (Netherlands)

    Rosenberg, EH; Almeida, LS; Kleefstra, T; deGrauw, RS; Yntema, HG; Bahi, N; Moraine, C; Ropers, HH; Fryns, JP; deGrauw, TJ; Jakobs, C; Salomons, GS

    A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by

  17. 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

  18. Vitamin/Mineral Supplements and Intelligence of Institutionalized Mentally Retarded Adults.

    Science.gov (United States)

    Ellis, Norman R.; Tomporowski, Phillip D.

    1983-01-01

    Vitamin/mineral supplements were administered to 19 institutionalized mentally retarded adults in a double-blind study over a seven-month period. No changes were observed in IQ nor in adaptive behavior. This was a replication with adults of a previous study of children that had obtained positive results. (Author/CL)

  19. 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…

  20. Review of Adaptive Behavior Studies in Mentally Retarded Persons with Autism/Pervasive Developmental Disorder.

    Science.gov (United States)

    Kraijer, Dirk

    2000-01-01

    A review of research on the adaptive behavior of persons with both mental retardation and autism/pervasive developmental disorder finds the performances of these dually disabled individuals to be particularly poor in the domain of social skills/socialization and somewhat less poor in the communication domain. In addition, autistic mentally…

  1. Vineland Adaptive Behavior Scales with Mentally Retarded Adults: Informant versus Self-Report.

    Science.gov (United States)

    Voelker, Sylvia L.; And Others

    1987-01-01

    The validity of using self report to assess competence on the Vineland Adaptive Behavior Scales was investigated with 16 mentally retarded adults. Self report and informant report showed close agreement for both daily living skills and socialization. Higher functioning subjects provided more information regarding problem behaviors than did their…

  2. 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

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

    Science.gov (United States)

    Martin, James E.; And Others

    1982-01-01

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

  4. 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…

  5. 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…

  6. The Remedial Role of Pre-School Education: Mentally Retarded Children.

    Science.gov (United States)

    Watson, B.

    A study of the benefits of early childhood education for mentally retarded children focuses on preschool services in the Sheffield Metropolitan District of South Yorkshire, England. Reviewed are incidence and etiological statistics along with early detection and multidisciplinary assessment procedures in the district. Educational programs based on…

  7. 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)

  8. REPORT OF SPECIAL ON-THE-JOB TRAINING FOR MENTALLY RETARDED YOUTH AND ADULTS.

    Science.gov (United States)

    MOCEK, EVE; AND OTHERS

    A 52-WEEK DEMONSTRATION PROJECT ORGANIZED TO PROVIDE VOCATIONAL TRAINING FOR SEVERELY TO MODERATELY MENTALLY RETARDED YOUTH AND ADULTS IS DESCRIBED. INFORMATION CONCERNING SELECTION OF THE 18 TRAINEES TREATS ETIOLOGY AND EDUCATIONAL EXPERIENCE, CHARACTERISTICS OF THE POPULATION, ASSESSMENT AND DIAGNOSIS (PROCEDURES AND TESTS USED), AND ADMISSION.…

  9. Abuse of Mentally Retarded Persons: Characteristics of the Abused, the Abuser, and the Informer.

    Science.gov (United States)

    Marchetti, Allen

    The possible casues of abuse of mentally retarded persons in residential facilities are examined and a study of all reported abuse cases occurring in Alabama's residential facilities from January, 1984, to September, 1986 is reviewed. Fifty-seven confirmed cases of abuse were identified for further examination using facility records and system…

  10. Educational Relevance and Diagnosis of the Mentally Retarded. Working Paper No. 27.

    Science.gov (United States)

    Alper, Ted

    Presented for diagnosticians and referral agents is an overview of four major types of diagnostic procedures utilized in the assessment of mental retardation: differential, etiological, diagnostic-remedial, and behavioral-task analysis. The rationale, definition, method, assets, and limitations of each method are discussed and are summarized in…

  11. Bone-anchored hearing aid in patients with moderate mental retardation: impact and benefit assessment.

    NARCIS (Netherlands)

    Kunst, S.J.W.; Hol, M.K.S.; Cremers, C.W.R.J.; Mylanus, E.A.M.

    2007-01-01

    OBJECTIVE: To assess the impact and the subjective benefit of Bone-anchored Hearing Aid (BAHA) implementation in patients with hearing impairment combined with moderate mental retardation. STUDY DESIGN: Case control study using two validated patient-oriented instruments. SETTING: Tertiary referral

  12. Children on Medication: Volume I. Hyperactivity, Learning Disabilities, and Mental Retardation.

    Science.gov (United States)

    Gadow, Kenneth D.

    Intended for caregivers, the book provides basic information about the use of medication for children with hyperactivity, learning disabilities, and mental retardation. The main emphasis is on psychotropic drug use for hyperactivity and aggressiveness. Chapter 1 explains fundamental terms and concepts relating to drug therapy. Major stresses…

  13. Effects of a Leisure Education Program on Youth with Mental Retardation.

    Science.gov (United States)

    Hoge, Gail; Dattilo, John

    1999-01-01

    This study evaluated a leisure-education program with 19 adolescents and young adults with mild to moderate mental retardation. The program focused on developing leisure appreciation, self-determination and decision-making skills, social interactions and friendships, and leisure resources. Significant improvement in achievement of educational…

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

    Science.gov (United States)

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

    2002-01-01

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

  15. 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

  16. A sex police for adults with "mental retardation"? Comment on Spiecker and Steutel.

    Science.gov (United States)

    Greenspan, Stephen

    2002-06-01

    This article is a rebuttal of the claim by Spiecker and Steutel that sex between people with mild and moderate "mental retardation" is morally permissable only with the substitutive consent of caregivers. After a review of historical, empirical and practical considerations, an ethical analysis is undertaken which concludes that Spiecker and Steutel's arguments are deeply flawed and their proposed policy morally objectionable.

  17. Treatment Effects of Methylphenidate on Cognitive Functioning in Children with Mental Retardation and ADHD

    Science.gov (United States)

    Pearson, Deborah A.; Santos, Cynthia W.; Casat, Charles D.; Lane, David M.; Jerger, Susan W.; Roache, John D.; Loveland, Katherine A.; Lachar, David; Faria, Laura P.; Payne, Christa D.; Cleveland, Lynne A.

    2004-01-01

    Objective: Cognitive effects of stimulant medication were investigated in children with mental retardation (MR) and attention-deficit/hyperactivity disorder (ADHD). Method: Performance on tasks tapping sustained attention, visual and auditory selective attention, inhibition, and immediate memory was assessed for 24 children (mean age 10.9 years)…

  18. Peer Groups: The Effect on Conversational Interactions among Adults with Mental Retardation

    Science.gov (United States)

    Moleon, Toni Chapman

    2012-01-01

    Different beliefs exist about the ability of individuals with mental retardation to recognize certain social roles or relationships appropriate for the acquisition of critical skills for successful social development. In particular, a major social skill is conversational proficiency. The purpose of this study was to look at the concept of…

  19. 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…

  20. 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…

  1. Effectiveness of Cognitive Process Approached Social Skills Training Program for People with Mental Retardation

    Science.gov (United States)

    Tekinarslan, Ilknur Cifci; Sucuoglu, Bulbin

    2007-01-01

    The purpose of this study was to determine whether cognitive-process approach based social skills program was effective on learning and generalizing three social skills (apologizing, coping with teasing and avoiding inappropriate touching) of the nine students with mental retardation. Social skills program covered dimensions of the cognitive…

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

    Science.gov (United States)

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

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

  3. Communicating about Loss and Mourning: Death Education for Persons with Mental Retardation.

    Science.gov (United States)

    Yanok, James; Beifus, Joan Addis

    This paper describes a death education curriculum designed for and field-tested on verbally expressive adults with mental retardation. The Communicating About Loss and Mourning (CALM) curriculum was presented to an experimental group in 8 sessions each lasting 50 minutes. Lectures and group discussions were used to convey information about death…

  4. Communicating about Loss and Mourning: Death Education for Individuals with Mental Retardation.

    Science.gov (United States)

    Yanok, James; Beifus, Joan Addis

    1993-01-01

    The Communicating about Loss & Mourning curriculum was designed for and field tested on a sample of 25 verbally expressive adults with mental retardation. Findings from a pilot study implementing the curriculum suggest that these individuals have a need for and can benefit from a formal program of death education and grief counseling. (Author/JDD)

  5. 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…

  6. Training of Toothbrushing Behaviors of Mentally Retarded Adolescents. Working Paper No. 305.

    Science.gov (United States)

    Horner, R. Don; Keilitz, Ingo

    A comprehensive toothbrushing program including detailed task analysis and specific training procedures was developed and evaluated for eight institutionalized mentally retarded adolescents (mean IQ 43.1). The first group of four Ss received token plus social reinforcement while the second group received only social reinforcement. All eight Ss…

  7. Evaluation of a Cardiovascular Health Program for Participants with Mental Retardation and Normal Learners

    Science.gov (United States)

    Ewing, Gary; McDermott, Suzanne; Thomas-Koger, Marlo; Whitner, Wendy; Pierce, Kristen

    2004-01-01

    An evaluation was conducted to compare the impact of an 8-week cardiovascular disease risk reduction group teaching program for 92 individuals with mental retardation (MR; IQ less than 70) and 97 normal learners. The curriculum emphasized exercise, nutritional choices, and stress reduction. Body Mass Index (BMI; weight in kilograms, divided by…

  8. Library Information Service Programs in Residential Facilities for the Mentally Retarded.

    Science.gov (United States)

    Matthews, Geraldine M.

    The directory lists approximately 120 library information service programs in residential facilities for the mentally retarded. Each program is described in terms of its collection (journals, books, films, and tapes), space, services (story hours, reference questions, bibliographies, and translation services), budget, clientele, and program…

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

    NARCIS (Netherlands)

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

    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%.

  10. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome

    NARCIS (Netherlands)

    Shkalim, Vered; Baris, Hagit N.; Gal, Gavriel; Gleiss, Ruth; Calderon, Shlomo; Wessels, Marja; Maat-Kievit, Anneke; Menten, Björn; de Baere, Elfride; Hennekam, Raoul C. M.; Schirmacher, Anja; Bale, Sherri; Shohat, Mordechai; Willems, Patrick J.

    2009-01-01

    We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies

  11. 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…

  12. 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)

  13. Cognitive Antecedents of Imitativeness and Persistence in Children with Mental Retardation.

    Science.gov (United States)

    Kreitler, Shulamith; Kreitler, Hans

    1990-01-01

    Two studies with children (n=123) with mild mental retardation were designed to test whether specific clusters of beliefs would predict imitation and persistence behaviors in this population. The studies found that belief scores were significantly related to such behaviors. Implications concerning motivation, the developmental-difference…

  14. Evaluation of Screening Tools for Dementia in Older Adults with Mental Retardation

    Science.gov (United States)

    Shultz, Jennifer; Aman, Michael; Kelbley, Thomas; Wallace, Cheryl LeClear; Burt, Diana B.; Primeaux-Hart, Sharon; Loveland, Katherine; Thorpe, Lilian; Bogos, Eleanor S.; Timon, John; Patti, Paul; Tsiouris, John

    2004-01-01

    We compared groups with and without diagnosed dementia matched on IQ, age, and presence of Down syndrome. The Dementia Scale for Down Syndrome and Dementia Questionnaire for Mentally Retarded Persons were used to assess participants. We developed two performance tasks to determine whether they were useful in separating subjects with and without…

  15. Verbal Self-Instruction for the Mentally Retarded: The Missing Link.

    Science.gov (United States)

    Walters, Elizabeth; And Others

    The paper examines research on locus of control, learned helplessness, and attribution theory, and discusses the implications of the mentally retarded child's attitudes toward his or her successes. Studies are cited linking internal locus of control with achievement, and it is suggested that more attention should be paid to promoting students'…

  16. Relationship of Muscular Strength on Work Performance in High School Students with Mental Retardation

    Science.gov (United States)

    Smail, Karen M.; Horvat, Michael

    2006-01-01

    The relationship of muscular strength on work performance measures in high school students with mild mental retardation was investigated. Ten students from a self contained Special Education class were matched according to age, gender, height, and weight then randomly assigned to either the treatment group or control group. The treatment group…

  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. Reducing the Risks in Pregnant Teens Who Are Very Young and Those with Mild Mental Retardation.

    Science.gov (United States)

    Levy, Susan R.; And Others

    1992-01-01

    The Children and Adolescent Pregnancy Project is a Chicago (Illinois) school-based intervention that serves pregnant teens (most either African American or Hispanic) who are either very young or have mild to moderate mental retardation. Outcome data indicate that serving these two groups together is an effective and developmentally appropriate…

  19. Paroxetine Treatment of Aggression and Self-Injury in Persons with Mental Retardation.

    Science.gov (United States)

    Davanzo, Pablo A.; Belin, Thomas R.; Widawski, Mel H.; King, Bryan H.

    1998-01-01

    An open, prospective assessment of the treatment of severe aggression and self-injurious behavior (SIB) with paroxetine in 15 institutionalized persons with mental retardation was undertaken. Frequency and severity of aggression and SIB were charted. Results found that aggression severity only was reduced over the entire four-month follow-up…

  20. Implicit mentalizing persists beyond early childhood and is profoundly impaired in children with autism spectrum conditions

    Directory of Open Access Journals (Sweden)

    Tobias Schuwerk

    2016-10-01

    Full Text Available Implicit mentalizing, a fast, unconscious and rigid way of processing other's mental states has recently received much interest in typical social cognitive development in early childhood and in adults with autism spectrum conditions (ASC. This research suggests that already infants implicitly mentalize, and that adults with ASC have a sustained implicit mentalizing deficit. Yet, we have only sparse empirical evidence on implicit mentalizing beyond early childhood, and deviations thereof in children with ASC. Here, we administered an implicit mentalizing eye tracking task to assess the sensitivity to false beliefs to a group of 8-year-old children with and without ASC, matched for chronological age, verbal and nonverbal IQ. As previous research suggested that presenting outcomes of belief-based actions leads to fast learning from experience and false belief-congruent looking behavior in adults with ASC, we were also interested in whether already children with ASC learn from such information. Our results provide support for a persistent implicit mentalizing ability in neurotypical development beyond early childhood. Further, they confirmed an implicit mentalizing deficit in children with ASC, even when they are closely matched to controls for explicit mentalizing skills. In contrast to previous findings with adults, no experience-based modulation of anticipatory looking was observed. It seems that children with ASC have not yet developed compensatory general purpose learning mechanisms. The observed intact explicit, but impaired implicit mentalizing in ASC, and correlation patterns between mentalizing tasks and executive function tasks, are in line with theories on two dissociable mentalizing systems.

  1. 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

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

    Directory of Open Access Journals (Sweden)

    Sonal Kothari

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Zivko SOKOLOSKI

    1999-05-01

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

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

    African Journals Online (AJOL)

    2011-09-03

    Sep 3, 2011 ... Manual of Mental Disorders, 4th edition (DSM-IV-TR),11 is defined as significantly sub-average general intellectual functioning (having an IQ of 70 or less) that is accompanied by significant limitations in adaptive functioning in at least two of the following skills areas: communication, self-care, home living, ...

  5. The Placement of the Mentally Retarded Child | Wagner | South ...

    African Journals Online (AJOL)

    A mentally handicapped child brings tremendous problems to his family. He may be rejected entirely, or he may be given an undue amount of attention to the detriment of the whole family. An attempt is made to point out an intermediate course which will give happiness to the child and yet not disrupt the family. S. Afr. Med.

  6. Curriculum Guide for Teachers of Educable Mentally Retarded -- Primary.

    Science.gov (United States)

    Palm Beach County Board of Public Instruction, West Palm Beach, FL.

    Designed for use with primary level educable mentally handicapped children, the guide lists general objectives, gives a unit and a daily lesson plan on wise buying from the grocery or stationery store, and explains how to make experience charts. Over three-fourths of the guide consists of behavioral objectives with general objectives and terminal…

  7. Exploring the Flynn effect in mentally retarded adults by using a nonverbal intelligence test for children.

    Science.gov (United States)

    Nijman, E E; Scheirs, J G M; Prinsen, M J H; Abbink, C D; Blok, J B

    2010-01-01

    Increases in the scores on IQ tests across generations have been called the Flynn effect (FE). One of the unresolved questions is whether the FE affects all subsamples of the intellectual ability distribution equally. The present study was aimed at determining the size of the FE in moderately mentally retarded individuals. A nonverbal intelligence test developed for children, the Snijders-Oomen Nonverbal Intelligence Test (SON), was administered to 32 retarded adults with a mental age of 3-6 years. Sixty-nine children with a biological age in the same range and with normal intelligence served as a comparison group. Both an older and a more recent version of the SON were presented to all participants in a counterbalanced order. The proportion of items answered correctly was taken as a measure of the dependent variable. It was found that a FE existed in both the group of children and in the group of retarded adults, but that the FE was largest in the latter group. The importance of not using obsolete test norms when diagnosing mental retardation was stressed, and possible causes of the Flynn effect were discussed. Copyright © 2010 Elsevier Ltd. All rights reserved.

  8. Developmental psychology and mental retardation. Integrating scientific principles with treatment practices.

    Science.gov (United States)

    Landesman, S; Ramey, C

    1989-02-01

    The current debates about "best practices" within mental retardation reflect key unresolved issues about the nature of mental retardation and the goals of treatment programs. The central axiom proposed is that better integration of basic principles about human development with treatment practices for children will yield substantial benefits to individuals and society. To illustrate the format for this proposed integration, three principles have been abstracted from scientific inquiry in human development: (a) targeted environmental prevention, (b) metacognitive conveyance, and (c) ecological dominion. A contextual analysis, using special education as an example of a major treatment setting, indicates that application of these developmental principles is likely to reduce the prevalence of mild retardation (as currently defined), to minimize social and behavioral problems, and to foster improved levels of environmental mastery (adaptive success) for many children with low IQs and cognitive deficiencies. Consistent with these developmental principles, the current construct of mental retardation is judged inadequate, and an alternative diagnostic strategy is proposed. This strategy is based on repeated developmental profiling of a child and his or her biosocial environmental history.

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

    Science.gov (United States)

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

    2013-07-03

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

  10. Measurement tools for mental health problems and mental well-being in people with severe or profound intellectual disabilities: A systematic review.

    Science.gov (United States)

    Flynn, Samantha; Vereenooghe, Leen; Hastings, Richard P; Adams, Dawn; Cooper, Sally-Ann; Gore, Nick; Hatton, Chris; Hood, Kerry; Jahoda, Andrew; Langdon, Peter E; McNamara, Rachel; Oliver, Chris; Roy, Ashok; Totsika, Vasiliki; Waite, Jane

    2017-11-01

    Mental health problems affect people with intellectual disabilities (ID) at rates similar to or in excess of the non-ID population. People with severe ID are likely to have persistent mental health problems. In this systematic review (PROSPERO 2015:CRD42015024469), we identify and evaluate the methodological quality of available measures of mental health problems or well-being in individuals with severe or profound ID. Electronic searches of ten databases identified relevant publications. Two reviewers independently reviewed titles and abstracts of retrieved records (n=41,232) and full-text articles (n=573). Data were extracted and the quality of included papers was appraised. Thirty-two papers reporting on 12 measures were included. Nine measures addressed a broad spectrum of mental health problems, and were largely observational. One physiological measure of well-being was included. The Aberrant Behavior Checklist, Diagnostic Assessment for the Severely Handicapped Scale-II and Mood, Interest and Pleasure Questionnaire are reliable measures in this population. However, the psychometric properties of six other measures were only considered within a single study - indicating a lack of research replication. Few mental health measures are available for people with severe or profound ID, particularly lacking are tools measuring well-being. Assessment methods that do not rely on proxy reports should be explored further. Copyright © 2017 Elsevier Ltd. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Raina

    2016-01-01

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

  12. 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. Copyright 2003 John Wiley & Sons, Ltd.

  13. Assessing the employment-related interpersonal competence of mildly mentally retarded workers.

    Science.gov (United States)

    Bullis, M; Foss, G

    1986-07-01

    Interpersonal competence has been identified as a key variable in the vocational success of mentally retarded adolescents and adults. Unfortunately, few tests are available that address this critical skill area. The purpose of this article is to describe the Test of Interpersonal Competence for Employment (TICE), a measure designed to assess mildly retarded worker's knowledge of interpersonal skills in the employment setting. This test was developed using the Behavioral-Analytic Model of Test Development (Goldfried & D'Zurilla, 1969). This procedure called for the detailed analysis of the problems that mildly retarded workers experience in the vocational setting and the identification of correct responses to those problems by competitive employers. The TICE was standardized on both high school and workshop populations. Overall, the initial psychometric properties of the test are uniformly adequate and encouraging.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

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

    Science.gov (United States)

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

    2004-01-01

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

  17. The mGluR theory of fragile X mental retardation.

    Science.gov (United States)

    Bear, Mark F; Huber, Kimberly M; Warren, Stephen T

    2004-07-01

    Many of the diverse functional consequences of activating group 1 metabotropic glutamate receptors require translation of pre-existing mRNA near synapses. One of these consequences is long-term depression (LTD) of transmission at hippocampal synapses. Loss of fragile X mental retardation protein (FMRP), the defect responsible for fragile X syndrome in humans, increases LTD in mouse hippocampus. This finding is consistent with the growing evidence that FMRP normally functions as a repressor of translation of specific mRNAs. Here we present a theory that can account for diverse neurological and psychiatric aspects of fragile X syndrome, based on the assumption that many of the protein-synthesis-dependent functions of metabotropic receptors are exaggerated in fragile X syndrome. The theory suggests new directions for basic research as well as novel therapeutic approaches for the treatment of humans with fragile X, the most frequent inherited cause of mental retardation and an identified cause of autism.

  18. Essential characteristics of self-determined behavior of individuals with mental retardation.

    Science.gov (United States)

    Wehmeyer, M L; Kelchner, K; Richards, S

    1996-05-01

    Despite increased emphasis on self-determination for individuals with mental retardation, only a few theoretical models have been formulated that specify measurable characteristics for the promotion and evaluation of this outcome. We propose that self-determination refers to acting as the primary causal agent in one's life and making choices and decisions regarding one's quality of life free from undue external influence or interference. Self-determined behavior is autonomous, self-regulated, based on psychological empowerment, and self-realizing. We evaluated this definition by asking participants with mental retardation to complete various instruments that measured self-determined behavior and these essential characteristics. Discriminant function analysis indicated that measures of essential characteristics predicted differences between groups based on exhibition of self-determined behavior.

  19. Laboral training: a way for correction - compensation to behavior problems of student with mental retarded

    Directory of Open Access Journals (Sweden)

    Irina González-Navarro

    2016-07-01

    Full Text Available Laboral training of the mental retarded student from the psychopedagogical point of view finds room in education, at work and for the work, that has been studied by different authors. From this standpoint, laboral training constitute a way for the development of the personality of this kind of student. Taking advantage of the antecedents, the article regards as its objective to reflex toward the potentialities of the mental retarded student in the process of laboral training for compensation-correction of behaivor problems present in these students and their possibilities for integral development. They used the following empirical and theoretical methods: documentary analysis, analysis – synthesis and induction-deduction. 

  20. 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)

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Therapeutic implications of the mGluR theory of fragile X mental retardation.

    Science.gov (United States)

    Bear, M F

    2005-08-01

    Evidence is reviewed that the consequences of group 1 metabotropic glutamate receptor (Gp1 mGluR) activation are exaggerated in the absence of the fragile X mental retardation protein, likely reflecting altered dendritic protein synthesis. Abnormal mGluR signaling could be responsible for remarkably diverse psychiatric and neurological symptoms in fragile X syndrome, including delayed cognitive development, seizures, anxiety, movement disorders and obesity.

  3. X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Morava, E.; Storcz, J.; Kosztolanyi, G. [Univ. Medical School, Pecs (Hungary)

    1996-07-12

    We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. supports their suggestion that these patients are representative of a distinct entity. 8 refs., 3 figs., 1 tab.

  4. Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report.

    Science.gov (United States)

    Suhanya, J; Aggarwal, Chakshu; Mohideen, Khadijah; Jayachandran, S; Ponniah, I

    2010-06-01

    Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

  5. A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

    OpenAIRE

    Barnes, I C; Curtis, D; Duncan, S L

    1988-01-01

    A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms ...

  6. 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.

  7. A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

    OpenAIRE

    Kalscheuer, Vera M.; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard

    2009-01-01

    Clustering of inhibitory γ-aminobutyric acidA (GABAA) and glycine receptors at synapses is thought to involve key interactions between the receptors, a “scaffolding” protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the brea...

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

    OpenAIRE

    A.M. Ntswane; L. van Rhyn

    2007-01-01

    This article reports on a research study done in Katutura Township, near Windhoek. A qualitative, exploratory, descriptive and contextual design was followed to answer the research question investigating experiences of mothers caring for mentally retarded children at home. Phenomenological interviews were conducted with a purposefully selected sample of twelve mothers. The meaning of their experiences was analysed by using Teschxs method (1990 in Creswell, 1994:155) of analysing qualitative d...

  9. Thermodynamics of the fragile X mental retardation protein RGG box interactions with G quartet forming RNA.

    Science.gov (United States)

    Zanotti, Kimberly J; Lackey, Patrick E; Evans, Genevieve L; Mihailescu, Mihaela-Rita

    2006-07-11

    Fragile X syndrome, the most common form of inherited mental retardation, is the result of an unstable expansion of a CGG trinucleotide repeat in the 5' UTR of the fragile X mental retardation-1 (FMR1) gene. The abnormal hypermethylation of the expanded CGG repeats causes the transcriptional silencing of the FMR1 gene and, consequently, the loss of the fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that binds to G quartet forming RNA using its RGG box motif. In this study we have performed a thermodynamic analysis of the interactions between the FMRP RGG box domain and Sc1, an RNA molecule which had been previously shown to be bound with high affinity by both the full-length FMRP and by its RGG box domain. We have determined that the association between the FMRP RGG box and Sc1 RNA is dominated by hydrophobic and hydrogen bond interactions, with minor contributions from electrostatic interactions, and that the FMRP RGG box binding increases the stability of the G quartet RNA structure significantly. Interestingly, we found that the G quartet recognition is necessary but not sufficient for the FMRP RGG box binding to this RNA target, indicating that additional interactions of the peptide, possibly with the stem and/or stem-G quartet junction region, are required. Our results also indicate that the G quartet RNA recognition is not a general feature of the RGG box motif but rather carries some sequence, protein and/or RNA, specificity.

  10. Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA.

    Science.gov (United States)

    Menon, Lakshmi; Mader, Samantha Ann; Mihailescu, Mihaela-Rita

    2008-08-01

    Fragile X mental retardation syndrome, the most common form of inherited mental retardation, is caused by the absence of the fragile X mental retardation protein (FMRP). FMRP has been shown to use its arginine-glycine-glycine (RGG) box to bind to a subset of RNA targets that form a G quadruplex structure. We performed a detailed analysis of the interactions between the FMRP RGG box and the microtubule associated protein 1B (MAP1B) mRNA, a relevant in vivo FMRP target. We show that MAP1B RNA forms an intramolecular G quadruplex structure, which is bound with high affinity and specificity by the FMRP RGG box. We determined that hydrophobic interactions are important in the FMRP RGG box-MAP1B RNA association, with minor contributions from electrostatic interactions. Our findings that at low protein:RNA ratios the RNA G quadruplex structure is slightly stabilized, whereas at high ratios is unfolded, suggest a mechanism by which the FMRP concentration variation in response to a neurotransmitter stimulation event could act as a regulatory switch for the protein function, from translation repressor to translation activator.

  11. Fragile X Mental Retardation-1 Knockout Zebrafish Shows Precocious Development in Social Behavior.

    Science.gov (United States)

    Wu, Yao-Ju; Hsu, Mao-Ting; Ng, Ming-Chong; Amstislavskaya, Tamara G; Tikhonova, Maria A; Yang, Yi-Ling; Lu, Kwok-Tung

    2017-10-01

    Fragile X syndrome (FXS) is a generally hereditary form of human mental retardation that is caused by triplet repeat expansion (CGG) mutation in fragile X mental retardation 1 (fmr1) gene promoter and that results in the absence of the fragile X mental retardation protein (FMRP) expression. The common symptoms of FXS patients include learning disabilities, anxiety, autistic behaviors, as well as other behavioral abnormalities. Our previous results demonstrated the behavioral abnormalities in fmr1 knockout (KO) zebrafish such as fear memory impairment and autism-like behavior. Here, we studied the functional role of fmr1 gene on the development of social behavior by behavioral experiments, including shoaling behavior, shoaling preference, light/dark test, and novel tank task. Our results demonstrated that precocious development of shoaling behavior is found in fmr1 KO zebrafish without affecting the shoaling preference on conspecific zebrafish. The shoaling behavior appeared after 14 days postfertilization (dpf), and the level of shoaling elevated in fmr1 KO zebrafish. Furthermore, the fmr1 KO zebrafish at 28 dpf expressed higher anxiety level in novel tank task. These results suggest that the change of shoaling behavior in fmr1 KO zebrafish may result from hyperactivity and an increase of anxiety.

  12. A syntactic investigation of verbal autistic, mentally retarded, and normal children.

    Science.gov (United States)

    Pierce, S; Bartolucci, G

    1977-06-01

    The syndrome of childhood autism is typified by major abnormalities in language development, yet there are few systematic descriptions of autistic children's linguistic systems. We have, therefore, begun a comprehensive investigation of the language of verbal autistic children and concentrate in this paper on comparing the syntax used by 10 verbal autistic children matched for nonlinguistic mental age with a group of mentally retarded subjects and normal controls. Two different means of assessing syntactic development were utilized: Lee's Developmental Sentence analysis and Chomsky's Transformational analysis. The autistic group was found to rank significantly lower than either the mentally retarded or the normal groups in terms of Developmental Sentence Scores. When a transformational grammar was used to describe the language samples of our subjects the autistic children were typified by a higher error rate and lower level of complexity compared to the other two groups. However, the results also indicate that the grammatical system of autistic children is rule-governed and probably not unlike that of young normal or retarded children. In conclusion, it appears that the syntactic abnormalities characteristic of autism are attributable to an extreme delay in language development as well as to an impaired ability to make use of linguistic rules.

  13. Validity of a cardiorespiratory fitness test for men with mental retardation.

    Science.gov (United States)

    Rintala, P; Dunn, J M; McCubbin, J A; Quinn, C

    1992-08-01

    The purpose of this study was to validate a field test of cardiorespiratory fitness for men with mental retardation. The subjects were 19 healthy young men (26 +/- 6 yr) with moderate mental retardation (IQ = 48 +/- 11). Each subject underwent a maximal treadmill test after a three-phase familiarization process. Each subject also completed a 1-mile walk test twice (Rockport Fitness Walking Test = RFWT). The correlation coefficients between peak VO2 on the treadmill and the two 1-mile walks varied from 0.78 to 0.83. When weight, height, age, heart rates of 1-mile walks, and their combinations were held constant, the correlations were strengthened. Using multiple correlation analysis the best equation for predicting peak VO2 was: Peak VO2 = 101.92 - 2.356(mile-1 time) - 0.42(weight). This model accounted for 85% of total variance. The standard error of estimate was 4.06 ml.kg-1.min-1. The test-retest reliability of the RFWT for the 19 subjects used in this study was very high (R = 0.97). This finding suggests that the RFWT is a valid and reliable field test for this population and appears to be a valid indicator of cardiorespiratory fitness for these men with mental retardation.

  14. [Mental retardation as a risk factor to develop a psychotic disease].

    Science.gov (United States)

    López, M Negueruela; Domíngeuz, A Ceverino; Quintero, J; Rodríguez, M M Pérez; Fernández Del Moral, A; Arriero, M A Jiménez; Vigo, M Martínez; Villamor, I Basurte; Vicente, M J Sevilla; Castromán, J López; Jiménez, R Navarro; Zambrano-Enríquez, D; González de Rivera, J L; García, E Baca

    2009-01-01

    One of the main aims of research on schizophrenia has been to pinpoint the early symptoms and signals of the disease before its appearance. We have examined the diagnoses previously given to patients before they were diagnosed of schizophrenia. This is a case-control study in which we used a data register including the fields of minimum basic data set (MBDS) whose time period included 1999 to 2005. In our study, there was a 3.6% frequency of mental retardation and 2.1% one of behavioral and emotional disorders with onset usually occurring in childhood and adolescence, both diagnosed previously. The estimated odds ratio for a mentally retarded patient to suffer adult onset psychosis is 4.6 (95%CI [3.43-6.26]), schizophrenia 5.8 (95% CI [4.20-7.88]), paranoid schizophrenia 4.8 (95% CI [3.39 -6.93]), residual schizophrenia 7.0 (95% CI [4.81 -10.09]) and persistent delusional disorder 2.7 (95% CI [1.57 -4.73]). It can be concluded from our study that there is an increased frequency of mental retardation among the pathological records of subjects who will be diagnosed with paranoid schizophrenia and residual schizophrenia in the future. This fact supports the etiological thesis of schizophrenia involving neurodevelopment disorders.

  15. The ARX mutations: a frequent cause of X-linked mental retardation.

    Science.gov (United States)

    Nawara, Magdalena; Szczaluba, Krzysztof; Poirier, Karine; Chrzanowska, Krystyna; Pilch, Jacek; Bal, Jerzy; Chelly, Jamel; Mazurczak, Tadeusz

    2006-04-01

    The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR). Beside FMR1, in families with X-linked mental retardation (XLMR), the ARX dysfunction was demonstrated to be among the most frequent causes of this heterogeneous group of disorders. Nevertheless, in sporadic cases of MR, ARX mutations are extremely rare. In order to evaluate the frequency of ARX mutation in XLMR, we performed mutational analysis of ARX in 165 mentally retarded probands negative for FRAXA and belonging to families in which the condition segregates as an X-linked condition. The same recurrent mutation, an in frame 24 bp insertion (c.428-451 dup (24 bp)), was identified in five patients. In one family, the mother of two affected boys was found not to carry the mutation detected in her sons. These data suggest the presence of germline mosaicism for the mutation in the mother. Our results confirm the significant contribution of ARX mutations in the etiology of MR, especially in this group of patients selected for XLMR (3%). These data, together with those reported in the literature, imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR. Copyright 2006 Wiley-Liss, Inc.

  16. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

    Science.gov (United States)

    Guerrini, Renzo; Moro, Francesca; Andermann, Eva; Hughes, Elaine; D'Agostino, Daniela; Carrozzo, Romeo; Bernasconi, Andrea; Flinter, Frances; Parmeggiani, Lucio; Volzone, Anna; Parrini, Elena; Mei, Davide; Jarosz, Jozef M; Morris, Robin G; Pratt, Polly; Tortorella, Gaetano; Dubeau, François; Andermann, Frederick; Dobyns, William B; Das, Soma

    2003-07-01

    DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an arg178cys mutation at the initial portion of R2, in the putative beta-sheet structure. Carrier female subjects with normal MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal.

  17. 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.

  18. Behavioral Treatment of Challenging Behaviors in Individuals With Mild Mental Retardation: Meta-Analysis of Single-Subject Research

    NARCIS (Netherlands)

    Didden, H.C.M.; Korzilius, H.P.L.M.; Oorsouw, W.M.W.J. van; Sturmey, P.

    2006-01-01

    A meta-analytic study on effectiveness of behavioral and psychotherapeutic treatments for challenging behaviors in individuals with mild mental retardation is reported. Eighty articles were examined. For each comparison, several study variables and two effect sizes (percentage of nonoverlapping

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

    NARCIS (Netherlands)

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

    2007-01-01

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

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

    Directory of Open Access Journals (Sweden)

    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.

  1. The decoding of the flouting of the Gricean relevance maxim is impaired in mental retardation caused by perinatal hypoxia. A brief report.

    Science.gov (United States)

    Tényi, Tamás; Csábi, Györgyi; Hamvas, Edina; Varga, Eszter; Herold, Róbert

    2008-12-01

    The authors examined the decoding of the flouting of the Gricean relevance maxim among children with mental retardation compared to a mental age matched control group with average intellectual capacities, where the cause of mental retardation was perinatal hypoxia. They have investigated the decoding deficit by five short "question and answer" conversation vignettes, where the flouting of the relevance maxim was presented. They have found significant deficit in the mental retardation group in their capacity to decode properly the flouting of the Gricean relevance maxim. These data are the first that point at a pragmatic language use deficit in mental retardation caused by perinatal hypoxia.

  2. Memorizing: a test of untrained mildly mentally retarded children's problem-solving.

    Science.gov (United States)

    Belmont, J M; Ferretti, R P; Mitchell, D W

    1982-09-01

    Forty untrained mildly mentally retarded and 32 untrained nonretarded junior high school students were given eight trails of practice on a self-paced memory problem with lists of letters or words. For each trail a new list was presented, requiring ordered recall of terminal list items followed by ordered recall of initial items. Subgroups of solvers and nonsolvers were identified at each IQ level by a criterion of strict recall accuracy. Direct measures of mnemonic activity showed that over trails, solvers at both IQ levels increasingly fit a theoretically ideal memorization method. At neither IQ level did nonsolvers show similar inventions. On early trials, for both IQ levels, fit to the ideal method was uncorrelated with recall accuracy. On late trials fit and recall were highly correlated at each IQ level and across levels. The results support a problem-solving theory of individual differences in retarded and nonretarded children's memory performances.

  3. 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…

  4. 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

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

    Science.gov (United States)

    Kozlowski, B W

    1992-01-01

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

  6. A biogenic amine-synapse mechanism for mental retardation and developmental disabilities.

    Science.gov (United States)

    Okado, N; Narita, M; Narita, N

    2001-12-01

    Recent studies have demonstrated that biogenic amines have a function of facilitating formation and maintenance of synapses in diverse regions of the central nervous system in developing and adult animals. The normal number of synapses maintained by biogenic amines are crucial to acquire learning and memory. The level of biogenic amines was reported to decrease in the brain by several neurodevelopmental disorders associated with mental retardation and developmental disabilities such as Rett syndrome, autism and Down syndrome. Taken into consideration this fact together with the function of biogenic amines for synapses, the density of synapses appears to decrease considerably in the brains of patients suffered from the neurodevelopmental disorders. The synaptic overproduction during the critical period of development especially 1 year after birth has been considered as a background mechanism to provide plasticity for the developing brain. Synaptic overproduction does not appear to occur in the brains of patients suffered from the neurodevelopmental disorders, which they are observed mental retardation occurring in the first 1 year after birth. Along with the neurodevelopmental disorders, environmental factors (stress, drugs and nutrition) during pre- and post-natal critical developmental periods are known to change levels of biogenic amines in the brain. In fact, maternal stress has been shown to decrease the levels of serotonin and the density of synapses in the hippocampus of the offspring, and they showed developmental disabilities in the spatial learning and memory. A cascade appears to exist from either the child neurological disorders or the environmental factors to mental retardation and developmental disabilities by decreases in the levels of biogenic amines and synaptic density.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  8. 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.

  9. 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....

  10. 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......, and this article reviews clinical and therapeutic aspects of the syndrome....

  11. 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...... previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD. PMID: 17883863 [PubMed - in process]...

  12. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

    OpenAIRE

    Hu, Jie; Madan-Khetarpal, Suneeta; Serrano Russi, Alvaro H.; Kochmar, Sally; DeWard, Stephanie J.; Sathanoori, Malini; Surti, Urvashi

    2011-01-01

    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 indic...

  13. High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

    OpenAIRE

    Rosenberg, Efraim H.; Almeida, Ligia S.; Kleefstra, Tjitske; deGrauw, Rose S.; Yntema, Helger G.; Bahi, Nadia; Moraine, Claude; Ropers, Hans-Hilger; Fryns, Jean-Pierre; deGrauw, Ton J.; Jakobs, Cornelis; Salomons, Gajja S.

    2004-01-01

    A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium. The full-length open reading frame and splice sites of the SLC6A8 gene were investigated by DNA sequence analysis. Six pathogenic mutations, of which five were novel, ...

  14. 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....

  15. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation)

    Energy Technology Data Exchange (ETDEWEB)

    Glaser, T.; Maas, R.L. (Harvard Medical School, Boston, MA (United States)); Ton, C.C.T.; Housman, D.E. (Massachusetts Institute of Technology, Cambridge, MA (United States)); Mueller, R.; Oliver, C. (Leeds General Infirmary (United Kingdom)); Petzl-Erler, M.L. (Federal Univ. of Parana, Curitiba (Brazil)); Nevin, N.C. (Queen' s Univ. of Belfast (Ireland))

    1994-01-01

    The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. The authors have tested the role of PAX6 mutations in three families with Gillespie syndrome, a rare autosomal recessive condition consisting of partial aniridia, cerebellar ataxia, and mental retardation. Single-strand conformational polymorphism analysis of affected individuals revealed no alteration of PAX6 sequences. In two families, the disease trait segregates independently from chromosome 11p markers flanking PAX6. The authors conclude that Gillespie syndrome is genetically distinct from autosomal dominant aniridia. 28 refs., 2 figs., 1 tab.

  16. Pax6 3′ deletion results in aniridia, autism and mental retardation

    Science.gov (United States)

    Davis, L. K.; Meyer, K. J.; Rudd, D. S.; Librant, A. L.; Epping, E. A.; Sheffield, V. C.; Wassink, T. H.

    2009-01-01

    The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1.3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia. PMID:18322702

  17. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Musante, Luciana; Fang, Cheng

    2009-01-01

    Clustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the receptors, a "scaffolding" protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation ......(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory....... in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the breakpoint indicates disruption of the collybistin gene (ARHGEF9) on chromosome Xq11, while the other...

  18. ANALISIS KESULITAN BELAJAR SISWA MENTAL RETARDATION DI SDN KEDUNGPUTRI 2 (Studi Kasus di SDN Kedungputri 2, Paron Kabupaten Ngawi

    Directory of Open Access Journals (Sweden)

    Melik Budiarti dan Candra Dewi

    2017-12-01

    Full Text Available This study entitled Analysis of Reading Difficulties in Mental Retardation Students In Primary School (Case Study In SDN Kedungputri 2. The background of this research is the emergence of learning problems in mentally retarded children attending regular elementary school (not designated as inclusive primary. This study aims to find out the learning process, especially learning to read mental retardation children in SDN Kedungputri 2, Paron, Ngawi and to find out the steps taken in overcoming the difficulties of reading children mental retardation in SDN Kedungputri 2, Paron, Ngawi. This research is descriptive qualitative research. The data collected in this research are facts and information on the implementation of character education of discipline in elementary school. In this study the data source is teachers and students. Data collection techniques used in this study consist of (a observation, (b interview, and (c test. In this study the validity of the data using data triangulation. Data analysis technique is done by using interactive data model analysis technique. Based on the data collected can be seen that students who experience mental retardation initials AS and the students have difficulty reading. Teachers continue to pay attention to the difficulties of learning to read the beginning to the AS.

  19. 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

  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. 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.

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

    Science.gov (United States)

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

    2014-10-01

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

  3. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

    Directory of Open Access Journals (Sweden)

    Kanavin Oivind J

    2007-09-01

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

  4. Drosophila fragile X mental retardation protein developmentally regulates activity-dependent axon pruning.

    Science.gov (United States)

    Tessier, Charles R; Broadie, Kendal

    2008-04-01

    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 or both: a distinction that is vital for engineering intervention strategies. To address this crucial issue, we have used the Drosophila FraX model to investigate the developmental function of Drosophila FMRP (dFMRP). dFMRP expression and regulation of chickadee/profilin coincides with a transient window of late brain development. During this time, dFMRP is positively regulated by sensory input activity, and is required to limit axon growth and for efficient activity-dependent pruning of axon branches in the Mushroom Body learning/memory center. These results demonstrate that dFMRP has a primary role in activity-dependent neural circuit refinement during late brain development.

  5. A novel function for fragile X mental retardation protein in translational activation.

    Directory of Open Access Journals (Sweden)

    Elias G Bechara

    2009-01-01

    Full Text Available Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP, an RNA-binding protein involved in several steps of RNA metabolism. To date, two RNA motifs have been found to mediate FMRP/RNA interaction, the G-quartet and the "kissing complex," which both induce translational repression in the presence of FMRP. We show here a new role for FMRP as a positive modulator of translation. FMRP specifically binds Superoxide Dismutase 1 (Sod1 mRNA with high affinity through a novel RNA motif, SoSLIP (Sod1 mRNA Stem Loops Interacting with FMRP, which is folded as three independent stem-loop structures. FMRP induces a structural modification of the SoSLIP motif upon its interaction with it. SoSLIP also behaves as a translational activator whose action is potentiated by the interaction with FMRP. The absence of FMRP results in decreased expression of Sod1. Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism.

  6. A novel function for fragile X mental retardation protein in translational activation.

    Science.gov (United States)

    Bechara, Elias G; Didiot, Marie Cecile; Melko, Mireille; Davidovic, Laetitia; Bensaid, Mounia; Martin, Patrick; Castets, Marie; Pognonec, Philippe; Khandjian, Edouard W; Moine, Hervé; Bardoni, Barbara

    2009-01-20

    Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps of RNA metabolism. To date, two RNA motifs have been found to mediate FMRP/RNA interaction, the G-quartet and the "kissing complex," which both induce translational repression in the presence of FMRP. We show here a new role for FMRP as a positive modulator of translation. FMRP specifically binds Superoxide Dismutase 1 (Sod1) mRNA with high affinity through a novel RNA motif, SoSLIP (Sod1 mRNA Stem Loops Interacting with FMRP), which is folded as three independent stem-loop structures. FMRP induces a structural modification of the SoSLIP motif upon its interaction with it. SoSLIP also behaves as a translational activator whose action is potentiated by the interaction with FMRP. The absence of FMRP results in decreased expression of Sod1. Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism.

  7. Seventh international workshop on the fragile X and X-linked mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Tranebjaerg, L.; Lubs, H.A. [Univ. Hospital of Tromso (Norway); Borghgraef, M.; Fryns, J.P. [Univ. Hospital of Leuven (Belgium)] [and others

    1996-07-12

    The Seventh International Workshop on the Fragile X and X-linked Mental Retardation was held at the University of Tromso in Norway on August 2-5, 1995. Approximately 120 participants from 20 countries attended the Workshop. By special invitation Dr. Felix de la Cruz, who initiated the first international Workshop on fragile X, attended this Workshop. For the first time, the workshop took place in Scandinavia and was hosted by Lisbeth Tranebjaerg and Herbert Lubs. For most participants this Workshop, held at the northernmost university in the world, presented a unique opportunity to visit this exotic place. Between sessions, the participants had a chance to experience 24 hours of daylight, codfishing, and extreme weather situations with excessive amounts of rain as well as spectacular changes in the light and rainbows. The format of the Workshop was a combination of platform presentations and poster presentations. In contrast to previous meetings, the Workshop opened with syndromal and non-syndromal X-linked mental retardation in order to allow time for discussion. 34 refs., 1 fig.

  8. The integrated approach of yoga: a therapeutic tool for mentally retarded children: a one-year controlled study.

    Science.gov (United States)

    Uma, K; Nagendra, H R; Nagarathna, R; Vaidehi, S; Seethalakshmi, R

    1989-10-01

    Ninety children with mental retardation of mild, moderate and severe degree were selected from four special schools in Bangalore, India. Forty-five children underwent yogic training for one academic year (5 h in every week) with an integrated set of yogic practices, including breathing exercises and pranayama, sithilikarana vyayama (loosening exercises), suryanamaskar, yogasanas and meditation. They were compared before and after yogic training with a control group of 45 mentally retarded children matched for chronological age, sex, IQ, socio-economic status and socio environmental background who were not exposed to yoga training but continued their usual school routine during that period. There was highly significant improvement in the IQ and social adaptation parameters in the yoga group as compared to the control group. This study shows the efficacy of yoga as an effective therapeutic tool in the management of mentally retarded children.

  9. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.

    Science.gov (United States)

    Hosomi, Naoko; Oiso, Naoki; Fukai, Kazuyoshi; Hanada, Kazushi; Fujita, Hiroko; Ishii, Masamitsu

    2007-01-01

    X-linked ichthyosis (XLI) is caused by deficiency of steroid sulfatase (STS) activity. About 90% XLI patients have large deletions involving the entire STS gene and flanking regions. Recently, VCXA, which is located approximately 0.7Mb telomeric to the STS gene, was reported as a candidate gene for mental retardation (MR) in patients with XLI. To delineate the X-chromosomal deletion of a XLI patient with borderline mental retardation. We carried out FISH analysis to show that the whole STS gene is deleted, and PCR analysis for fine-scale deletion mapping. The deleted segment is approximately 1.6Mb in size, and includes the entire STS and VCXB1 genes. VCXA itself is intact, but its promoter is deleted. A deletion that includes the VCXA promoter is associated with borderline mental retardation in a patient with XLI.

  10. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.

    Science.gov (United States)

    Marco, E J; Abidi, F E; Bristow, J; Dean, W B; Cotter, P; Jeremy, R J; Schwartz, C E; Sherr, E H

    2008-02-01

    We identified a female patient with mental retardation and sensory hyperarousal. She has a de novo paracentric inversion of one X chromosome with completely skewed inactivation of the normal X chromosome. We aimed to identify whether a single gene or gene region caused her cognitive and behavioural impairment and that of others. Fluorescent in situ hybridisation (FISH) showed that the centromeric breakpoint disrupts a single gene: ARHGEF9 (CDC42 guanine nucleotide exchange factor (GEF) 9). The telomeric break lies in a gene poor region. We also found that the levels of the ARHGEF9 transcript from the patient are 10-fold less than those found in control samples. Consequently, we sequenced the coding exons and intron/exon borders of the ARHGEF9 gene in 99 probands from families with X linked mental retardation (XLMR) and 477 mentally retarded males in whom a diagnosis of Fragile X syndrome had been excluded. We did not identify any pathogenic changes; however, we did identify intronic nucleotide changes that might alter splicing. ARHGEF9 encodes a RhoGEF family protein: collybistin (hPEM), which is highly expressed in the developing and adult brain. Collybistin can regulate actin cytoskeletal dynamics and may also modulate GABAergic and glycinergic neurotransmission through binding of a scaffolding protein, gephyrin, at the synapse. This potential dual role may explain both the mental retardation and hyperarousal observed in our patient. While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal.

  11. Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

    OpenAIRE

    Yolanda de Diego; Abdelkrim Hmadcha; Francisco Moron; Miguel Lucas; Mercedes Carrasco; Elizabeth Pintado

    2002-01-01

    Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we calle...

  12. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

    Science.gov (United States)

    Gohlke, B C; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, G A; Haverkamp, F

    2000-08-01

    We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

  13. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

    OpenAIRE

    Gohlke, B; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, G; Haverkamp, F.

    2000-01-01

    We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narro...

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

    KAUST Repository

    Altawashi, Azza

    2012-02-28

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

  15. A comparison on HBsAg and HBsAb prevalence in patients with Down syndrome and other mentally retarded patients living in retarded children institutes in Tehran

    Directory of Open Access Journals (Sweden)

    Sahebjamei M. Associate Professor

    2003-06-01

    Full Text Available Statement of Problem: The Prevalence of HBsAg, among patients with Down Syndrome (DS has been"nreported higher than normal population. Living in institutes, comparing to home, leads to higher"nprobability of HBsAg prevalence."nAim: The purpose of the present study was to determine HBsAg prevalence in patients with DS and"ncompare it with other mentally retarded patients with similar conditions, and also with healthy population"nin Iran."nMaterials and Methods: One hundred patients, with average age of 12 years, living in five institutes in"nTehran, were chosen. Children with DS and other mentally retarded children were considered as the first"nand second groups, respectively (50 members in each group. Blood samples were taken and tested"n(ELLSA to determine HBsAg and HBsAb titre. For statistical analysis, Chi- Square test was used."nResults: HBsAg was positive in 8% and 4% of DS and MR groups, respectively. HBsAb was seen in"n25% of DS, comparing to 32% of MR. The prevalence of HBsAg in retarded patients living in institutes"nwas higher than normal population of Iran (less than 3%, which was not statistically significant."nConclusion: Consideration of sterilization principles and infection control upon dental operations, in"nthese centers, are necessary. It is also suggested that these children, as a high- risk population, should be"nvaccinated against hepatitis B.

  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 men...

  17. 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

  18. 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

  19. 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…

  20. Differential Diagnosis of Speech and Hearing Problems of Mental Retardates; Workshop on Speech and Hearing Problems of Mental Retardates (Catholic University of America, Washington, D.C., June 13-24, 1966).

    Science.gov (United States)

    Waldon, Edgar F., Ed.

    Attention to differential diagnosis and diagnostic and testing procedures provides a framework for articles on the speech and hearing of the mentally retarded. Aspects considered include medical diagnosis, by Philip L. Calcagno; diagnostic evaluation, by Richmond S. Paine; developmental tests as diagnostic tools, by Katerina K. Haka;…

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    A.M. Ntswane

    2007-09-01

    Full Text Available This article reports on a research study done in Katutura Township, near Windhoek. A qualitative, exploratory, descriptive and contextual design was followed to answer the research question investigating experiences of mothers caring for mentally retarded children at home. Phenomenological interviews were conducted with a purposefully selected sample of twelve mothers. The meaning of their experiences was analysed by using Teschxs method (1990 in Creswell, 1994:155 of analysing qualitative data. The results indicated various emotions and challenges experienced by these mothers during the care of their children. Feelings of shock, despondency and sadness dominated the early stages when the retarded children were still young. During later years, as the children were growing up, the mothers felt shame, fear, frustration, anger, disappointment and worry. However, acceptance followed, as the children grew older. Stigma seemed to affect all the respondents. Support in any form or lack thereof seemed to be the decisive factor-positioning mothers along a continuum of two extremes, namely despairing isolation and integrated happiness. Recommendations were made regarding the improvement of heath care services and education of the mothers and their families.

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

    Science.gov (United States)

    Ntswane, A M; van Rhyn, L

    2007-03-01

    This article reports on a research study done in Katutura Township, near Windhoek. A qualitative, exploratory, descriptive and contextual design was followed to answer the research question investigating experiences of mothers caring for mentally retarded children at home. Phenomenological interviews were conducted with a purposefully selected sample of twelve mothers. The meaning of their experiences was analysed by using Teschxs method (1990 in Creswell, 1994:155) of analysing qualitative data. The results indicated various emotions and challenges experienced by these mothers during the care of their children. Feelings of shock, despondency and sadness dominated the early stages when the retarded children were still young. During later years, as the children were growing up, the mothers felt shame, fear, frustration, anger, disappointment and worry. However, acceptance followed, as the children grew older. Stigma seemed to affect all the respondents. Support in any form or lack thereof seemed to be the decisive factor-positioning mothers along a continuum of two extremes, namely despairing isolation and integrated happiness. Recommendations were made regarding the improvement of heath care services and education of the mothers and their families.

  4. Giardiasis and other intestinal parasitic infections in a Manitoba residential school for the mentally retarded.

    Science.gov (United States)

    Naiman, H. L.; Sekla, L.; Albritton, W. L.

    1980-01-01

    A case of severely symptomatic giardiasis in a school for the mentally retarded prompted an epidemiologic survey of the institution. The rate of parasitic infection in the children were just under 50%. Multiple infections were common and one child harboured five different protozoa. The yield included known pathogens (Giardia lamblia, Metorchis conjunctus and Diphyllobothrium sp.), protozoa of potential pathogenicity (Dientamoeba fragilis) and other protozoa, the significance of which has yet to be determined. The prevalence of G. lamblia in the index ward was significantly higher than in a control ward matched for age and mobility of the children. The epidemiologic data suggested person-to-person transmission of G. lamblia within the institution. Recommendations for the control of protozoal intestinal infections in custodial institutions are presented. PMID:7363211

  5. 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

    -phenotype correlations, including the possibility of the abnormalities being normal genomic variants. The abnormalities were detected using metaphase HR-CGH; their size was estimated to range from 1.6 to 7.5 Mb using tiling path array-CGH and real-time PCR. The abnormalities were transmitted through two to four...... generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient...

  6. 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.

  7. Supernumerary teeth and mental retardation: the importance of early surgical intervention.

    Science.gov (United States)

    Cozza, P; Mucedero, M; Ballanti, F; De Toffol, L

    2006-03-01

    This paper reported a rare case of hyperdontia in a child of 10 years who revealed a mixed dentition and a light mental retardation. The therapeutic approach has been based on interdisciplinary cooperation between the pediatric dentist, orthodontist and oral surgeon. TC-Dentascan, with a panoramic and occlusal radiographs revealed the presence of two supernumerary teeth in the premaxillary region and clinical examination showed an abnormality of dentoalveolar complex. Both impacted supernumerary teeth were extracted under general anesthesia. Clinical examination revealed that they appeared two premolars in shape with fully formed crowns and partly formed roots. Three months after the extraction of supernumerary teeth there was a spontaneous eruption of permanent central incisors and left lateral incisor. The authors emphasized the importance of removal of supernumerary teeth to eliminate the cause of a delayed eruption of permanent teeth.

  8. 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...... implications. The translocation breakpoint at 9p was within a cluster of interferon a genes and the 18q21 breakpoint truncated ZBTB7C (zinc finger and BTB containing 7C gene). In addition, analyses with array-CGH revealed a 931 kb maternally inherited deletion on chromosome 8q22 as well as an 875 kb maternally...

  9. 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.

  10. Bilateral anterior capsulotomy and amygdalotomy for mental retardation with psychiatric symptoms and aggression: A case report.

    Science.gov (United States)

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

    2017-01-01

    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. We encountered a 19-year-old female who had MR with aggression and psychiatric symptoms. She was diagnosed with mild MR with aggressiveness and psychiatric symptoms. 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. After surgery, the patient showed significant alleviation of her psychiatric symptoms and aggression with no observed side effects. 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.

  11. 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

    Directory of Open Access Journals (Sweden)

    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

  12. Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia.

    Science.gov (United States)

    Werner-Favre, C; Wyss, M; Cabrol, C; Félix, F; Guenin, R; Laufer, D; Engel, E

    1984-06-01

    Bloom syndrome (BS) was diagnosed in a 7-year-old boy during hospitalization for acute lymphoblastic leukemia (ALL). The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation. Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister-chromatid exchanges (SCE). This child's ALL was of non-B, non-T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq - chromosome was detected in about 10% of PHA-stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.

  13. Form E of the 16PF and adults with mental retardation: internal consistency and validity.

    Science.gov (United States)

    Spirrison, C L

    1992-06-01

    Form E of the Sixteen Personality Factors Questionnaire (16PF-E) was administered to 70 adults (45 men and 25 women) who resided in a public facility for mentally retarded persons. Alpha coefficients were computed for each of 16 primary trait scales. The Intelligence (B), Ego Strength (C), Dominance (E), Superego Strength (G), Parmia (H), Protension (L), Autia (M), Shrewdness (N), Guilt Proneness (O), and Self-Sentiment (Q3) scales exhibited low internal consistency, whereas Premsia (I) and Self-Sufficiency (Q2) evidence relatively higher levels. Personality traits of subjects were also assessed by staff ratings. Ratings were compared to 16PF-E primary and secondary trait scores via correlation coefficients. Results provided virtually no support for the validity of the 16PF-E primary scales and the Exvia, Anxiety, and Cortertia secondary factors as applied to the subject population. Limited support for the validity of the Independence secondary factor was found.

  14. 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.

  15. Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.

    Science.gov (United States)

    Mariën, Peter; Brouns, Raf; Engelborghs, Sebastiaan; Wackenier, Peggy; Verhoeven, Jo; Ceulemans, Berten; De Deyn, Peter P

    2008-01-01

    Although previous studies of Gillespie syndrome have systematically reported a generalized delay of cognitive development (mental retardation or oligophrenia), psychometric data to substantiate this view are strikingly absent. In the present study two first degree relatives (mother and daughter) with Gillespie syndrome were neuropsychologically investigated. Aside from a marked asymmetry in the Wechsler-IQ profile, consisting of significantly better results on the verbal [Verbal IQ (VIQ)] than on the nonverbal part [Performance IQ (PIQ)] of the test, cognitive and behavioral assessments revealed a pattern of abnormalities that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS) (Schmahmann and Sherman, 1998). Aside from prefrontal dysexecutive dysfunctions such as disturbed cognitive planning and set-shifting, parietal lobe involvement was reflected by impaired visuo-spatial memory and visuo-spatial disorganization in constructional tasks. Within the linguistic domain involvement of the prefrontal and temporal language regions was indicated by impaired letter fluency, incidences of agrammatism, apraxia of speech and disrupted language dynamics. With regard to mood and behavior, a number of personality and affective characteristics were found that are typically associated with prefrontal lobe damage and dysfunction of limbic related regions in the cingulate and parahippocampal gyri. Disinhibited symptoms characterized behavior and affect of the mother while the daughter displayed a variety of inhibited symptoms. As a result, behavioral and cognitive findings in these patients do not support the prevailing view of a global mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry.

  16. 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.

  17. Pericentromeric genes for non-specific X-linked mental retardation (MRX)

    Energy Technology Data Exchange (ETDEWEB)

    Gedeon, A. [Univ. of Adelaide (Australia); Kerr, B.; Mulley, J.; Turner, G. [Prince of Wales Children`s Hospital, Randwick (Australia)

    1994-07-15

    Extensive linkage analysis in three families with non-specific X-linked mental retardation (MRX) have localized the gene in each family to the pericentromeric region of the chromosome. The MRX17 gene is localized with a peak lod of 2.41 ({theta} = 0.0) with the trinucleotide repeat polymorphism at the androgen receptor (AR) gene locus. The gene lies in the interval between the markers DSX255 and DXS990, as defined by recombinants. The MRX18 gene maps to the interval between the markers DXS538 and DXS1126, with a peak lod score of 2.01 ({theta} = 0.0) at the PFC gene locus. In the third family (Family E) with insufficient informative meioses for assignment of an MRX acronym, the maximum lod score is 1.8 at a recombination fraction of zero for several marker loci between DXS207 and DXS426. Exclusions from the regions of marker loci spanning Xq support the localization of the MRX gene in Family E to the pericentromeric region. Localizations of these and other MRX genes have determined that MRX2 and MRX19 map to distal Xp, MRX3, and MRX6 map to distal Xq, whilst the majority cluster in the pericentromeric region. In addition, we confirm that there are at least two distinct MRX genes near the centromere as delineated by the non-overlapping regional localizations of MRX17 and MRX18. Determination of these non-overlapping localizations is currently the only means of classifying non-syndromal forms of mental retardation and determining the minimum number of MRX loci. 27 refs., 14 figs., 5 tabs.

  18. 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.)…

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

    Directory of Open Access Journals (Sweden)

    Arianti Iman Sari

    2016-12-01

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

  20. Written Lists as Mediating Stimuli in the Matching-to-Sample Performances of Individuals with Mental Retardation.

    Science.gov (United States)

    Stromer, Robert; Mackay, Harry A.; McVay, Alison A.; Fowler, Thomas

    1998-01-01

    A study of three adolescents with mental retardation found that six-picture matching was more accurate when a written list was available at the time the participant selected the comparison pictures than on trials in which a list was written, read, or both, but was not available during comparison selection. (CR)

  1. SOME ANTICIPATIONS FOR THE TREATMENT OF THE MENTALLY RETARDED CHILDREN THROUGH THE WORK IN THE SPECIAL PRIMARY SCHOOL-VELES

    Directory of Open Access Journals (Sweden)

    Tanja POPOVA

    1998-04-01

    Full Text Available In this article is presented the quantitative analysis of the distribution of the children in Special Primary School "Maca Ovcarova"-Veles, in the period from 1973 to 1996. Also here given some important factors for reduction of the children in this school, as well as the suggestions for bigger range of the mentally retarded children in special education.

  2. 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

  3. Examining the Effectiveness of Direct Instruction on the Acquisition of Social Skills of Mentally Retarded Students in Regular Classroom Settings

    Science.gov (United States)

    Özokcu, Osman; Akçamete, Gönül; Özyürek, Mehmet

    2017-01-01

    The purpose of this study is to reveal whether or not the social skills teaching program based on the direct instruction approach is effective on the ability of mentally retarded students in regular classroom settings to gain social skills such as apologizing, asking for help and finishing a task on time, and to generalize these abilities. This…

  4. 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…

  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. 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…

  7. Self-Restraint: A Review of Etiology and Applications in Mentally Retarded Adults with Self-Injury.

    Science.gov (United States)

    Isley, Ellen M.; And Others

    1991-01-01

    This article summarizes and critically analyzes the literature on self-restraint (in which a mentally retarded individual restricts or prevents motion of a body part), particularly its identification, etiology, modification, and relationship to self-injurious behavior. The paper examines the hypotheses of negative reinforcement and stimulus…

  8. Rehabilitation of patients with conductive hearing loss and moderate mental retardation by means of a bone-anchored hearing aid.

    NARCIS (Netherlands)

    Kunst, S.J.W.; Hol, M.K.S.; Snik, A.F.M.; Mylanus, E.A.M.; Cremers, C.W.R.J.

    2006-01-01

    OBJECTIVE: To evaluate whether the bone-anchored hearing aid (BAHA) can be applied successfully to patients with conductive hearing loss and moderate mental retardation. STUDY DESIGN: Retrospective clinical evaluation. SETTING: Tertiary referral center. PATIENTS: Twenty-two patients with congenital

  9. Effectiveness of Resiliency Training in Improving Mother-Child Relationship in Mothers of Children With Mental Retardation

    Directory of Open Access Journals (Sweden)

    Taghi Hadizad

    2016-09-01

    Discussion: It seems that the resiliency training program improves the mother-child relationship in the case of mothers and their mentally retarded children and hence, reduces the exclusion, extreme support, and being easy-going nature. This improvement may be due to the changing attitude towards disability and improvement in the skills and behaviors of mothers.

  10. Parents as Teachers: Teaching Parents How to Teach Toilet Skills to Their Children with Autism and Mental Retardation

    Science.gov (United States)

    Ozcan, Nihal; Cavkaytar, Atilla

    2009-01-01

    The purpose of this study was to determine the effectiveness of a parent training program for teaching toilet skills to children with autism and mental retardation. The study was conducted with three mothers and their children. A multiple probe design using probe sessions across subjects was used. The experimental procedure consisted of two…

  11. PIEBALDISM IN A MENTALLY-RETARDED GIRL WITH RARE DELETION OF THE LONG ARM OF CHROMOSOME-4

    NARCIS (Netherlands)

    SIJMONS, RH; KRISTOFFERSSON, U; TUERLINGS, JHAM; LJUNG, R; DIJKHUISSTOFFELSMA, R; BREED, ASPM

    A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations

  12. 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…

  13. 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

  14. 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, C.; Lespinasse, J.; Esch, H. van; Lacombe, D.; Goizet, C.; Phan-Dinh Tuy, F.; Bokhoven, J.H.L.M. van; Fryns, J.P.; Chelly, J.; Ropers, H.H.; Moraine, C.; Hamel, B.C.J.; 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

  15. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

    Science.gov (United States)

    Shimojima, Keiko; Sugawara, Midori; Shichiji, Minobu; Mukaida, Souichi; Takayama, Rumiko; Imai, Katsumi; Yamamoto, Toshiyuki

    2011-08-01

    Microarray-based comparative genomic hybridization analysis identified a 737-kb microdeletion of Xq11.1, including the cell division cycle 42 guanine nucleotide exchange factor (GEF)-9 gene (ARHGEF9), encoding collybistin, which has a pivotal role in formation of postsynaptic glycine and γ-aminobutyric acid receptor clusters, in a male patient with severe mental retardation and epilepsy. No overlapping deletion with this was identified in the database of genomic copy number variations. A cohort study of ARHGEF9 nucleotide sequence identified a nonsense mutation in another male patient with severe mental retardation and epilepsy. This mutation affects one of the three transcript variants of ARHGEF9, which was confirmed to be expressed in the brain by reverse transcription-PCR. Although this nonsense mutation was shared with the patient's mother, it was not observed in 100 normal individuals. Both male patients suffered epileptic seizures after 1 year of age. Brain magnetic resonance imaging revealed mild frontal atrophy in the first patient and right frontal polymicrogyria in the second patient. Three previously reported mutations of ARHGEF9 consisted of a missense mutation in a male patient with hyperekplexia and two chromosomal disruptions in two female patients. The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy. Therefore, ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy.

  16. 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…

  17. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

    DEFF Research Database (Denmark)

    Møller, R S; Hansen, C P; Jackson, G D

    2007-01-01

    In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild mental retardation, epilepsy and polymicrogyria adjacent to an arachnoid cyst of the left temporal lobe. The deletion was ascertained through array-comparative genome hybridization screening of patien...

  18. 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 de...

  19. 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.

  20. Rehabilitation of patients with conductive hearing loss and moderate mental retardation by means of a bone-anchored hearing aid.

    Science.gov (United States)

    Kunst, Sylvia J W; Hol, Myrthe K S; Snik, Ad F M; Mylanus, Emmanuel A M; Cremers, Cor W R J

    2006-08-01

    To evaluate whether the bone-anchored hearing aid (BAHA) can be applied successfully to patients with conductive hearing loss and moderate mental retardation. Retrospective clinical evaluation. Tertiary referral center. Twenty-two patients with congenital moderate mental retardation and conductive or mixed hearing loss were selected to receive a BAHA at the University Medical Centre Nijmegen, the Netherlands. Four of them were fitted despite a limited air-bone gap. Rehabilitative BAHA application. Implantation results, skin reactions, and audiological data were evaluated during a mean follow-up of 36 months. All the patients were still using the BAHA 7 days a week and for more than 8 hours a day after a follow-up period between 5 and 96 months. Two implants (9%) were lost due to insufficient integration but were reimplanted successfully. With the BAHA, mean free-field thresholds showed a clear mean improvement of 9 dB compared with the previous hearing aid. Considerable improvements in daily activities were seen in at least five patients. Moderate mental retardation should no longer be considered as a contraindication for BAHA application. Although implant loss was low, extra attention may be required from the personal care providers to maintain the percutaneous implant. The BAHA was well-accepted by the patients with moderate mental retardation and was being used for most of the day. Implementation of the BAHA as hearing aid treatment in patients with moderate mental retardation proved to be sufficiently effective and may have strongly positive effects on activities at school or at work.

  1. STDP and mental retardation: dysregulation of dendritic excitability in Fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Rhiannon M Meredith

    2010-06-01

    Full Text Available 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.

  2. Mentally retarded hepatitis-B surface antigen carriers in NYC public school classes: a public health dilemma.

    Science.gov (United States)

    Bakal, C W; Novick, L F; Marr, J S; Millner, E S; Goldman, W D; Pitkin, O

    1980-07-01

    The placement of retarded children who have been institutionalized and are asymptomatic hepatitis-B surface antigen carriers into public school classes for the retarded has caused controversy and presented the New York City Health Department with an unusual medical-ethical dilemma. In this situation, the cost of interfering with deinstitutionalization, an important social advance, must be balanced against the benefit of controlling the unquantified but real risk of transmitting a potentially serious disease. The Health Department guidelines for managing this problem recommended serological surveillance, promotion of classroom hygiene where possible, and teaching of carriers in classes separate from their susceptible peers. A federal court disallowed the cohorting provisions of these guidelines. Changing policies and practices towards the mentally retarded, such as deinstitutionalization, raise important public health issues which will have to be faced by the involved communities.

  3. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Effect of stress inoculation training on coping styles and psychological well-being status of mothers with mental retard children

    Directory of Open Access Journals (Sweden)

    Jahanshir Tavakolizadeh

    2017-09-01

    Full Text Available Mental retardation is one of the most significant problems of human society among children and adolescents. It puts families, especially mothers, under a lot of stress and threatens their mental health. The initial purpose of this study was to determine the effect of stress inoculation training on coping styles and psychological well-being status in women who have children with mental retardation. In this quasi-experimental study, 30 participants were randomly were selected by simple sampling method that were assigned into the experimental and control groups. The statistical population comprised the mothers who have children with mental retardation at the training center. Ryff scales of psychological well-being and coping inventory for stressful situations and psychological well-being scale were implemented before and after the stress inoculation training (presented only for the experimental group in eight sessions. The results of the statistical analysis showed that the training increased the problem-oriented coping style and decreased the avoidant and emotional coping styles. Thus, the results demonstrated that stress inoculation training was effective in stress coping and improving psychological well-being in mothers. According to the obtained finding, psychological well-being scores in the experimental group were remarkably different from those in the control group. Based on these results, it is recommended for the experts in the field to use stress inoculation training to decrease stress and enhance psychological well-being of mothers.

  5. Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

    Science.gov (United States)

    CARULLA, LUIS SALVADOR; REED, GEOFFREY M.; VAEZ-AZIZI, LEILA M.; COOPER, SALLY-ANN; LEAL, RAFAEL MARTINEZ; BERTELLI, MARCO; ADNAMS, COLLEEN; COORAY, SHERVA; DEB, SHOUMITRO; DIRANI, LEYLA AKOURY; GIRIMAJI, SATISH CHANDRA; KATZ, GREGORIO; KWOK, HENRY; LUCKASSON, RUTH; SIMEONSSON, RUNE; WALSH, CAROLYN; MUNIR, KEMIR; SAXENA, SHEKHAR

    2011-01-01

    Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features. PMID:21991267

  6. [Antegrade colonic enemas for intractable constipation in non-mentally retarded children].

    Science.gov (United States)

    Blasco Alonso, J; Sierra Salinas, C; Navas López, V M; Gil Gómez, R; Barco Gálvez, A; Unda Freire, A; Gaztambide Casellas, J; Miguélez Lago, C

    2009-09-01

    A descriptive review of 12 patients who underwent appendicocecostomy or caecostomy for antegrade colonic lavage from January 2002 to February 2008. There were 9 appendicocecostomies performed patients from 3 to 13 years suffering from myelomeningocele, of which 8 of them had a very good outcome, with one case withdrawn due to poor use by the family. Three caecostomies were performed in non-mentally retarded constipated children. One was an otherwise healthy 7 year-old boy with hard stools since he was 10 months old, in spite of multiple laxative treatments, with normal morphology and function. He had a percutaneous caecostomy five years ago, with some improvement and a good quality of life, but still some occasional partial impactions. Another healthy 12 year-old boy with daily constipation associated faecal incontinence since he was 3 years old (normal manometry and rectal biopsy with signs of mild neuronal dysplasia) had a percutaneous caecostomy performed three years ago, with improvement in the faecal incontinence and better psychological outcome. The last caecostomy patient was an 8-year-old boy, with a similar clinical history and good progress in last three years after placing a Chait's button using an endoscopic procedure. Stubborn constipation continuing into adult life has a negative impact on the social and emotional adaptation of the paediatric patient, affecting family interactions. Antegrade colonic lavage allows independence and improves the quality of life in patients affected by recurrent faecal impactions. This technique needs to be performed on more patients to find out its true effectiveness.

  7. 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.

  8. Recombinant bacterial expression and purification of human fragile X mental retardation protein isoform 1.

    Science.gov (United States)

    Evans, Timothy L; Mihailescu, Mihaela-Rita

    2010-12-01

    The loss of expression of the fragile X mental retardation protein (FMRP) leads to fragile X syndrome. FMRP has two types of RNA binding domains, two K-homology domains and an arginine-glycine-glycine box domain, and it is proposed to act as a translation regulator of specific messenger RNA. The interest to produce sufficient quantities of pure recombinant FMRP for biochemical and biophysical studies is high. However, the recombinant bacterial expression of FMRP has had limited success, and subsequent recombinant eukaryotic and in vitro expression has also resulted in limited success. In addition, the in vitro and eukaryotic expression systems may produce FMRP which is posttranslationally modified, as phosphorylation and arginine methylation have been shown to occur on FMRP. In this study, we have successfully isolated the conditions for recombinant expression, purification and long-term storage of FMRP using Escherichia coli, with a high yield. The expression of FMRP using E. coli renders the protein devoid of the posttranslational modifications of phosphorylation and arginine methylation, allowing the study of the direct effects of these modifications individually and simultaneously. In order to assure that FMRP retained activity throughout the process, we used fluorescence spectroscopy to assay the binding activity of the FMRP arginine-glycine-glycine box for the semaphorin 3F mRNA and confirmed that FMRP remained active. Copyright © 2010 Elsevier Inc. All rights reserved.

  9. Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.

    Science.gov (United States)

    Joost, K; Tammur, P; Teek, R; Zilina, O; Peters, M; Kreile, M; Lace, B; Zordania, R; Talvik, I; Ounap, K

    2011-09-01

    Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation (MR) rarely occurs. The haploinsufficiency of deleted genes that escape X-inactivation may explain the occurrence of MR and autism. Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder and is inherited in an X-linked semi-dominant trait, and the OTC gene maps to Xp21. Methods: We report on a girl with MR, epilepsy and biochemical changes characteristic of OTC deficiency but no identifiable point mutation in the OTC gene. Standard G-banding cytogenetic analysis, whole genome karyotyping, and X-inactivation studies were performed to determine the genetic etiology of the OTC deficiency in the patient. Results: Cytogenetic analysis and molecular karyotyping using SNP array revealed a deletion of the whole short arm of the X chromosome (Xp22.33-p11.1). Inactivation studies also revealed a completely skewed X-inactivation. Conclusion: Our patient presented with MR, epilepsy, and some evidence of reduced OTC activity, but performed genetic studies gave no explanation for this phenotype. We hope that this case report contributes to the understanding of the underlying genetic factors of the manifestation of X-linked disorders in female patients.

  10. 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.

  11. 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.

  12. 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.

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

    Directory of Open Access Journals (Sweden)

    Giuseppe LaFauci

    2016-12-01

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

  14. Fragile X mental retardation protein promotes astrocytoma proliferation via the MEK/ERK signaling pathway

    Science.gov (United States)

    Zhang, Hui; Hao, Zhuofang; Long, Yuesheng; Chen, Shengqiang; Su, Hang; Yuan, Zhongmin; Xu, Meng; Chen, Jingqi

    2016-01-01

    Objective To examine the association between fragile X mental retardation protein (FMRP) expression and astrocytoma characteristics. Methods Pathologic grade and expressions of glial fibrillary acidic protein (GFAP), Ki67 (proliferation marker), and FMRP were determined in astrocytoma specimens from 74 patients. Kaplan-Meier survival analysis was undertaken. Pathologic grade and protein levels of FMRP were determined in 24 additional patients with astrocytoma and 6 controls (cerebral trauma). In cultured U251 and U87 cell lines, the effects of FMRP knock-down on cell proliferation, AKT/mTOR/GSK-3β and MEK/ERK signaling were studied. The effects of FMRP knock-down on the volumes and weights of U251 cell-derived orthotopic tumors in mice were investigated. Results In patients, FMRP expression was increased in grade IV (5.1-fold, Pastrocytoma, compared with controls. FMRP and Ki67 expressions were positively correlated (R2=0.877, P30 (Pastrocytoma cell lines, FMRP knock-down slowed proliferation (Pastrocytoma may promote proliferation through activation of MEK/ERK signaling. PMID:27683117

  15. Validation of the Rockport Fitness Walking Test for adults with mental retardation.

    Science.gov (United States)

    Kittredge, J M; Rimmer, J H; Looney, M A

    1994-01-01

    This study determined if the generalized equations created for the Rockport Fitness Walking Test were a valid estimation of cardiorespiratory fitness for adults with mental retardation (MR). Subjects included 25 males and females (mean age = 33.3 +/- 7.4 yr) with MR. A maximal treadmill test was administered (mean VO2peak = 29.5 +/- 7.2 ml.kg-1 x min-1; 2.2 +/- 0.62 l.min-1). Subjects' age, weight, sex, walk time, and immediate post-HR were used in the generalized equations for predicting VO2peak (mean VO2peak = 36.5 +/- 7.6 ml.kg-1 x min-1 and 2.7 +/- 0.66 l.min-1). Significant correlations (P < 0.01) were obtained between the measured and predicted peak VO2 levels. However, significant and consistent differences were also observed between the measured and predicted VO2peak values (P < 0.02). Only 28% (l.min-1) and 36% (ml.kg-1 x min-1) of the subjects' measured VO2peak fell within the prespecified value of the predicted VO2peak, thus indicating that the prediction equations overestimated the VO2peak and cardiovascular fitness levels of adults with MR.

  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. Performance of children with mental retardation after cochlear implantation: speech perception, speech intelligibility, and language development.

    Science.gov (United States)

    Lee, Young-Mee; Kim, Lee-Suk; Jeong, Sung-Wook; Kim, Jeong-Seo; Chung, Seung-Hyun

    2010-08-01

    Children with mental retardation (MR) obtain demonstrable benefit from cochlear implantation, and their postoperative performance was tempered by the degree of MR. The purpose of this study was to investigate the performance of children with MR after implantation, and to explore their progress according to the degree of MR. Fifteen implanted children with MR were included. Progress in speech perception, speech intelligibility, and language was measured using Categories of Auditory Performance, monosyllabic word test, Speech Intelligibility Rating, and Language Scale before and after implantation. We retrospectively examined outcomes and explored the association between the progress and the degree of MR after implantation. We compared monosyllabic word test scores using repeated-measures ANOVA. Speech perception and speech intelligibility for children with mild MR improved consistently after implantation. After implantation, monosyllabic word test scores did not differ significantly between children with mild MR and children with no additional disabilities. Although language development of children with mild MR was slow, they could communicate verbally 3 years after implantation. Children with moderate MR progressed more slowly and had limitations in speech and language development, and these children could communicate by vocalization and gesture 3 years after implantation.

  18. 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.

  19. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

    Science.gov (United States)

    Schenkel, Laila C; Kernohan, Kristin D; McBride, Arran; Reina, Ditta; Hodge, Amanda; Ainsworth, Peter J; Rodenhiser, David I; Pare, Guillaume; Bérubé, Nathalie G; Skinner, Cindy; Boycott, Kym M; Schwartz, Charles; Sadikovic, Bekim

    2017-01-01

    Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of histone H3 and DNA methylation, while mutations in the ATRX gene may lead to the downstream epigenetic and transcriptional effects. Elucidating the underlying epigenetic mechanisms altered in ATR-X will provide a better understanding about the pathobiology of this disease, as well as provide novel diagnostic biomarkers. We performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity. Most significant methylation changes in the 14 genomic loci provide a unique epigenetic signature for this syndrome that may be used as a highly sensitive and specific diagnostic biomarker to support the diagnosis of ATR-X, particularly in patients with phenotypic complexity and in patients with ATRX gene sequence variants of unknown significance.

  20. Treatment of Intestinal Parasitic Infections in Elderly and Mentally Retarded Patients

    Directory of Open Access Journals (Sweden)

    Sima Rasti

    2011-04-01

    Full Text Available Objectives: The rate of person to person transmission of intestinal parasites is high in elderly and mentally retarded patients and lack of treatment may cause disease spread.This sudy was conducted to evaluate the efficacy of treatment of intestinal parasitic infections in elderly and mentallyretardedpatients of Golabchi center of Kashan. Methods & Materials: This descriptive study was carried out on 133 elderly and mentallyretardedpatients of Golabchi center of Kashan in 2007. Infected participants were treated according to the stool examination and scotch tape results. These tests were performedagain after one month and response to treatment wasdetermined. A questionnaire was completed during interview with patients to obtain the data of sex and age,clinical symptoms and side effects of drugs. Descriptive data analysis was performed to evaluate the results. Results: In general, 64.7% of patients were male and the rate of response to treatment was 93.2%. The response rate was highest (79.5% and lowest (26.7% in patients with 70 years of age respectively. Besides, theresponse rate was 93.6%, 89.2%, 90% and 100% in oxyur, entamoeba histolytica, giardia lamblia anddientamoeba fragilis respectively. Conclusion: With regardsto the high rate of response to treatment,resistance to routin anti parasitic drugs seems unlikely. The lack of response to tratment can be either dut to high severity of the infection or due to incorrect using of drugs.

  1. Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities.

    Science.gov (United States)

    Abbeduto, L; Evans, J; Dolan, T

    2001-01-01

    We argue that researchers interested in language and communication problems in mental retardation or any other developmental disorder should view such problems as emerging within the broader context of the behavioral profile, or phenotype, associated with a particular genetic condition. This will require understanding the direct and indirect effects of genes on the development of language and communication and thereby an understanding of the complex relations that exist between language and other dimensions of psychological and behavioral functioning as well as an understanding of the environments in which the developing person acts and is acted upon. We believe that the dominant model for understanding language and communication problems--the nativist approach, which emphasizes the child's innate capacity for acquiring language and characterizes language as consisting of a set of context-free deterministic rules that operate on abstract representations--is inconsistent with an emphasis on indirect genetic effects. We review recent evidence that undermines the nativist approach--evidence concerning the initial state of the language-learning child, the role of environmental input, the competence-performance distinction, and modularity. In place of nativism, we argue for Emergentism, which is a model in which language is seen to emerge from the interaction between the child's biological abilities to map statistical properties of the language input into a distributed representation and the characteristics of the language learning environment and for the purpose of engaging in real-time, meaningful language use.

  2. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    Science.gov (United States)

    Bernardini, Laura; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Bottillo, Irene; Battaglia, Agatino; Digilio, Maria Cristina; Zampino, Giuseppe; Ertel, Adam; Fortina, Paolo; Surrey, Saul; Dallapiccola, Bruno

    2010-02-01

    We used Affymetrix 6.0 GeneChip SNP arrays to characterize copy number variations (CNVs) in a cohort of 70 patients previously characterized on lower-density oligonucleotide arrays affected by idiopathic mental retardation and dysmorphic features. The SNP array platform includes approximately 900,000 SNP probes and 900,000 non-SNP oligonucleotide probes at an average distance of 0.7 Kb, which facilitates coverage of the whole genome, including coding and noncoding regions. The high density of probes is critical for detecting small CNVs, but it can lead to data interpretation problems. To reduce the number of false positives, parameters were set to consider only imbalances >75 Kb encompassing at least 80 probe sets. The higher resolution of the SNP array platform confirmed the increased ability to detect small CNVs, although more than 80% of these CNVs overlapped to copy number 'neutral' polymorphism regions and 4.4% of them did not contain known genes. In our cohort of 70 patients, of the 51 previously evaluated as 'normal' on the Agilent 44K array, the SNP array platform disclosed six additional CNV changes, including three in three patients, which may be pathogenic. This suggests that about 6% of individuals classified as 'normal' using the lower-density oligonucleotide array could be found to be affected by a genomic disorder when evaluated with the higher-density microarray platforms.

  3. Fragile X Mental Retardation Protein expression in the retina is regulated by light.

    Science.gov (United States)

    Guimarães-Souza, E M; Perche, O; Morgans, C W; Duvoisin, R M; Calaza, K C

    2016-05-01

    Fragile X Mental Retardation Protein (FMRP) is a RNA-binding protein that modulates protein synthesis at the synapse and its function is regulated by glutamate. The retina is the first structure that participates in vision, and uses glutamate to transduce electromagnetic signals from light to electrochemical signals to neurons. FMRP has been previously detected in the retina, but its localization has not been studied yet. In this work, our objectives were to describe the localization of FMRP in the retina, to determine whether different exposure to dark or light stimulus alters FMRP expression in the retina, and to compare the pattern in two different species, the mouse and chick. We found that both FMRP mRNA and protein are expressed in the retina. By immunohistochemistry analysis we found that both mouse and chick present similar FMRP expression localized mainly in both plexiform layers and the inner retina. It was also observed that FMRP is down-regulated by 24 h dark adaptation compared to its expression in the retina of animals that were exposed to light for 1 h after 24 h in the dark. We conclude that FMRP is likely to participate in retinal physiology, since its expression changes with light exposure. In addition, the expression pattern and regulation by light of FMRP seems well conserved since it was similar in both mouse and chick. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.

    Science.gov (United States)

    Grigsby, Jim

    2016-08-01

    To provide an historical perspective and overview of the phenotypes, mechanism, pathology, and epidemiology of the fragile X-associated tremor/ataxia syndrome (FXTAS) for neuropsychologists. Selective review of the literature on FXTAS. FXTAS is an X-linked neurodegenerative disorder of late onset. One of several phenotypes associated with different mutations of the fragile X mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and impaired executive functioning, among other features. It affects carriers of the FMR1 premutation, which may expand when passed from a mother to her children, in which case it is likely to cause fragile X syndrome (FXS), the most common inherited developmental disability. This review briefly summarizes current knowledge of the mechanisms, epidemiology, and mode of transmission of FXTAS and FXS, as well as the neuropsychological, neurologic, neuropsychiatric, neuropathologic, and neuroradiologic phenotypes of FXTAS. Because it was only recently identified, FXTAS is not well known to most practitioners, and it remains largely misdiagnosed, despite the fact that its prevalence may be relatively high.

  5. Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

    Directory of Open Access Journals (Sweden)

    Yolanda de Diego

    2002-01-01

    Full Text Available Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females, and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA. Similar to other south European populations, allele 2 (25 CA at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion.

  6. 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.

  7. Prevalence of Strongyloides stercoralis and other intestinal parasitic infections among mentally retarded residents in central institution of southern Iran

    OpenAIRE

    Azar Shokri; Khojasteh Sharifi Sarasiabi; Saeed Hosseini Teshnizi; Hamid Mahmoodi

    2012-01-01

    Objective: To determine the prevalence of intestinal parasitic infections among mentally retarded residents of rehabilitation center of Bandar Abbas, Hormozgan province, southern Iran. Methods: A cross-sectional study was carried out in central rehabilitation institute of Hormozgan province in summer 2010. Fecal samples of all 133 residents (72 males, 61 females) aged 3-52, were collected in triplicate. Specimens were examined by direct smear, formalin-ether concentration techniques and st...

  8. A cytogenetic study of nonpolymalformed patients with mental retardation of clinically undefined etiology: application of a high resolution banding technique.

    OpenAIRE

    Kikkawa,Kiyoshi; Narahara,Kouji; Kimoto,Hiroshi

    1989-01-01

    We performed a cytogenetic study on 140 nonpolymalformed patients with mental retardation of clinically undefined origin, using a high resolution banding technique, to determine how much chromosome abnormalities contribute to the etiology of this condition. A total of 15 patients (10.7%) were found to have autosomal or sex chromosomal abnormalities. Autosomal abnormalities included partial monosomy (5 cases), reciprocal translocation (one case), 13/14 robertsonian translocation (3 cases), unb...

  9. Development of Theory of Mind in Mentally Retarded Students and its Relation with the Number of the Siblings

    Directory of Open Access Journals (Sweden)

    Mehdi Abdollah-Zadeh Rafi

    2011-01-01

    Conclusion: Theory of mind development of mental retarded students varies based on that type of task being used to assess. In total, the claim of Theory-Theory approach, that says theory of mind development is on the basis of necessary processes, could be accepted. Also those theories which are based on cultural-social approaches calming that experience with other people causes development of mind understanding need to be more examined.

  10. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

    OpenAIRE

    Marco, E J; Abidi, F E; Bristow, J; Dean, W B; Cotter, P.; Jeremy, R.J.; Schwartz, C E; Sherr, E.H.

    2009-01-01

    We identified a female patient with mental retardation and sensory hyperarousal. She has a de novo paracentric inversion of one X chromosome with completely skewed inactivation of the normal X chromosome. We aimed to identify whether a single gene or gene region caused her cognitive and behavioural impairment and that of others. Fluorescent in situ hybridisation (FISH) showed that the centromeric breakpoint disrupts a single gene: ARHGEF9 (CDC42 guanine nucleotide exchange factor (GEF) 9). We...

  11. Functional improvement and social participation through sports activity for children with mental retardation: a field study from a developing nation.

    Science.gov (United States)

    Ghosh, Dipanwita; Datta, Tarit K

    2012-09-01

    While the positive effect of sports and exercise on physical and psychological well being is well documented within the general population, the effects of sports on the functional ability of a child with mental retardation are limited. To determine if sports activities have been detrimental in improving functional ability in sample of children with mental retardation based in Kolkata, a metropolis in India. Field level study. Six sports associations registered under the Sports Authority of India for training children with mental retardation were shortlisted on the basis of four criteria. From the register, every third name (gender irrespective) belonging to the second (12-15 years) and third (15-21 years) subclasses (out of the four categories laid down in the Special Olympics participation rules) against a constraint of at least two years active attendance in the sports facility for the child was selected. A sample of 31 children was drawn and the WHO Disability Assessment Schedule 2.0 (WHODAS 2.0) 12-item version was administered to the caregiver-teacher-coach team of the sample. Relative changes in scores between the point when the survey was conducted and the point when the child joined the sports facility was used as the dependent variable for regression analysis. The number of years in active sports, in school age of the respondent and base score of the children when they joined school were the independent variables. For seven of the WHODAS 2.0 12-item attributes, the number of years in sports activities was found to have a statistically significant effect (p sports activities was a significant factor responsible for improving the functioning of children with mild to moderate mental retardation.

  12. 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.

  13. 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. Copyright 2003 Wiley-Liss, Inc.

  14. 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.

  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 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.

  16. Adapt the Program to Fit the Needs: A Conversation with Kenneth E. Wyatt about the Least Restrictive Environment for Mentally Retarded Students.

    Science.gov (United States)

    Thomas, M. Angele, Ed.

    1979-01-01

    In an interview, K. Wyatt, president of The Council for Exceptional Children, discusses issues related to determining the most appropriate and least restrictive environment (LRE) placement for mentally retarded persons. (CL)

  17. 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. (c) 2007 Wiley-Liss, Inc.

  18. Etiologija in klinična slika duševne manjrazvitosti pri otrocih: Etiology and clinical features of mental retardation in children:

    OpenAIRE

    Bon, Jurij

    1998-01-01

    Children with mental retardation constitute a group with special medical needs. There are several hundrede known etiological (mostly biomedical) factors, that can influence the development of a child's brain. We experience the changes in their prevalence rates, mainly because of improvements in health care. There is more than one etiological factor present in more than half of mentally retarded children. We are recognizing the role of psychosocial factors in development of borderline and mild...

  19. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    DEFF Research Database (Denmark)

    Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

    2009-01-01

    ABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract...... in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region....

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

    DEFF Research Database (Denmark)

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

    2017-01-01

    ) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR...... and experimental studies to clarify the role of CASPR2 and possibly other antibodies in neurodevelopmental disorders....

  1. Increased Lead Burdens and Trace-Mineral Status in Mentally Retarded Children.

    Science.gov (United States)

    Marlowe, Mike; And Others

    1982-01-01

    Hair trace mineral concentrations were compared to a group of 40 retarded children with a nonretarded control group of 27. The retarded group had significantly raised hair lead concentrations. There were also differences in the mean levels of six nutrient minerals. (Author)

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

    Directory of Open Access Journals (Sweden)

    Boer Riet

    2008-06-01

    Full Text Available Abstract Background Gastroesophageal reflux disease (GERD occurs when stomach acid frequently backs up (or refluxes into the gullet (or esophagus, and it has serious consequences for the quality of life. Usually this is felt as heartburn. Because severely mentally retarded people usually do not utter complaints of heartburn, it requires a high index of suspicion to discover possible GERD. Therefore it is relevant for care professionals such as nurses to have knowledge of those with a higher risk of GERD and of the possible manifestations of GERD. Methods Using a predefined search method, electronic databases were searched for studies relating the presence of symptoms to the presence of GERD. Relevant data were extracted and the methodological quality of the studies assessed. The results of the included studies were synthesized and conclusions about the level of evidence were drawn. Results Nineteen studies were found relating symptoms to the presence of GERD. Only four were of good methodological quality. The studies were very diverse concerning the studied population, the study method, and the kind of symptoms examined. This makes it difficult to synthesize the results of the studies. There is evidence that patients with cerebral palsy, patients using anticonvulsive drugs, and those with an IQ lower than 35 more frequently have GERD. There is also evidence that vomiting, rumination and hematemesis are associated with a higher risk of the presence of GERD, whereas there is no clear scientific evidence that particular behavior symptoms are indicative for GERD. Conclusion The possible manifestations of GERD are many and varied. A guideline will be made for care professionals to aid systematic observation of possible manifestations of GERD.

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

    Directory of Open Access Journals (Sweden)

    Samuel H. Friedman

    2013-11-01

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

  4. Cross validation of the 1-mile walking test for men with mental retardation.

    Science.gov (United States)

    Rintala, P; McCubbin, J A; Downs, S B; Fox, S D

    1997-01-01

    The purpose of this study was to cross validate the equation developed by Rintala et al. (1992) to estimate the cardiorespiratory efficiency of men with mental retardation (MR). Subjects were 19 healthy men (27 +/- 8 yr) with MR (IQ = 58 +/- 12). Following familiarization, a graded maximal treadmill test and two 1-mile walk tests (Rockport Fitness Walking Test, RFWT) were administered. The peak VO2 value was the criterion measure used to cross validate the equation. The equation was: Peak VO2 (ml.kg-1.min-1) = 101.92 - 2.356 (MILE)-0.420 (WEIGHT). The mean differences were 2.04 (MILE1)(P = 0.02) and 2.43 (MILE2)(P = 0.004) ml.kg-1.min-1. A significant positive correlation was found between measured peak VO2 and predicted peak VO2 on both 1-mile walks (r = 0.91 and 0.93). For both predicted peak VO2 values, the Total Error (TE) was greater than standard error of estimate (SEE), indicating a systematic difference between the measured and predicted peak VO2 values. Moreover, only 58% of the measured peak VO2 values fell within the prespecified range. Test-retest reliability of RFWT was R = 0.96. However, the prediction equation underestimated the actual cardiorespiratory levels in 74% and 79% of the subjects, depending on the trial. Because the equation developed in this research underestimates the measured VO2 values for the majority of these subjects, the test is probably not statistically valid, even if reliable, and the prediction formula needs to be revised for this population.

  5. Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX

    Directory of Open Access Journals (Sweden)

    Deakin Janine E

    2008-02-01

    Full Text Available Abstract Background The human X chromosome has a biased gene content. One group of genes that is over-represented on the human X are those expressed in the brain, explaining the large number of sex-linked mental retardation (MRX syndromes. Results To determine if MRX genes were recruited to the X, or whether their brain-specific functions were acquired after relocation to the mammalian X chromosome, we examined the location and expression of their orthologues in marsupials, which diverged from human approximately 180 million years ago. We isolated and mapped nine tammar wallaby MRX homologues, finding that six were located on the tammar wallaby X (which represents the ancient conserved mammal X and three on chromosome 5, representing the recently added region of the human X chromosome. The location of MRX genes within the same synteny groups in human and wallaby does not support the hypothesis that genes with an important function in the brain were recruited in multiple independent events from autosomes to the mammalian X chromosome. Most of the tammar wallaby MRX homologues were more widely expressed in tammar wallaby than in human. Only one, the tammar wallaby ARX homologue (located on tammar chromosome 5p, has a restricted expression pattern comparable to its pattern in human. The retention of the brain-specific expression of ARX over 180 million years suggests that this gene plays a fundamental role in mammalian brain development and function. Conclusion Our results suggest all the genes in this study may have originally had more general functions that became more specialised and important in brain function during evolution of humans and other placental mammals.

  6. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

    Science.gov (United States)

    Kalscheuer, Vera M; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard; Ropers, Hans-Hilger; Harvey, Kirsten; Harvey, Robert J

    2009-01-01

    Clustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the receptors, a "scaffolding" protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the breakpoint indicates disruption of the collybistin gene (ARHGEF9) on chromosome Xq11, while the other breakpoint lies in a region of 18q11 that lacks any known or predicted genes. We show that defective collybistin transcripts are synthesized and exons 7-10 are replaced by cryptic exons from chromosomes X and 18. These mRNAs no longer encode the pleckstrin homology (PH) domain of collybistin, which we now show binds phosphatidylinositol-3-phosphate (PI3P/PtdIns-3-P), a phosphoinositide with an emerging role in membrane trafficking and signal transduction, rather than phosphatidylinositol 3,4,5-trisphosphate (PIP3/PtdIns-3,4,5-P) as previously suggested in the "membrane activation model" of gephyrin clustering. Consistent with this finding, expression of truncated collybistin proteins in cultured neurons interferes with synaptic localization of endogenous gephyrin and GABA(A) receptors. These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory. Copyright 2008 Wiley-Liss, Inc.

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

    Directory of Open Access Journals (Sweden)

    A Afkhami Aqda

    2016-07-01

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

  8. 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…

  9. Validity of a modified aerobic fitness test for adults with mental retardation.

    Science.gov (United States)

    Draheim, C C; Laurie, N E; McCubbin, J A; Perkins, J L

    1999-12-01

    The purpose of this study was to determine whether further modifications to the Rockport Fitness Walking Test (RFWT) protocol produces similar results to the previously modified protocol (Rintala et al., 1992) used for adults with mental retardation (MR). A second purpose of this study was to evaluate prediction equations developed to estimate aerobic capacity from the 1:5RFWT. In an effort to make the RFWT more efficient for testing adults with MR the one pacer to one walker protocol (1:1RFWT) was further modified to one pacer to five walkers (1:5RFWT). Ten healthy men and 13 women (21.7 +/- 2.6 yr) with MR (IQ = 42-68) performed graded maximal treadmill tests, one 1:1RFWT and two 1:5RFWT. The end times (P = 0.326) and end heart rates (P = 0.457) did not significantly differ between the 1:1RFWT, the first 1:5RFWT, and the second 1:5RFWT. Separate Bland and Altman plots indicated that both end time and end heart rate had good agreement between protocols and also had good repeatability between the two 1:5RFWT. The main predictor variable, end time, from the 1:1RFWT and the 1:5RFWT was highly (and similarly) associated with the measured aerobic capacity (VO2peak), indicating a high predictive value for the 1:5RFWT end time. Bland and Altman plots of predicted and measured VO2peak for the prediction equations of Kline et al. (1987) and Rintala et al. (1987) indicated a general overestimation of measured values. The 1:5RFWT provides similar end times and end heart rates as the 1:1RFWT along with similar associations of end times to measured VO2peak. The 1:5RFWT could be used to predict aerobic capacity; unfortunately, the present prediction equations overpredict VO2peak for adults with MR and need to be revised.

  10. High prevalence of SLC6A8 deficiency in X-linked mental retardation.

    Science.gov (United States)

    Rosenberg, Efraim H; Almeida, Ligia S; Kleefstra, Tjitske; deGrauw, Rose S; Yntema, Helger G; Bahi, Nadia; Moraine, Claude; Ropers, Hans-Hilger; Fryns, Jean-Pierre; deGrauw, Ton J; Jakobs, Cornelis; Salomons, Gajja S

    2004-07-01

    A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium. The full-length open reading frame and splice sites of the SLC6A8 gene were investigated by DNA sequence analysis. Six pathogenic mutations, of which five were novel, were identified in a total of 288 patients with XLMR, showing a prevalence of at least 2.1% (6/288). The novel pathogenic mutations are a nonsense mutation (p.Y317X) and four missense mutations. Three missense mutations (p.G87R, p.P390L, and p.P554L) were concluded to be pathogenic on the basis of conservation, segregation, chemical properties of the residues involved, as well as the absence of these and any other missense mutation in 276 controls. For the p.C337W mutation, additional material was available to biochemically prove (i.e., by increased urinary creatine : creatinine ratio) pathogenicity. In addition, we found nine novel polymorphisms (IVS1+26G-->A, IVS7+37G-->A, IVS7+87A-->G, IVS7-35G-->A, IVS12-3C-->T, IVS2+88G-->C, IVS9-36G-->A, IVS12-82G-->C, and p.Y498) that were present in the XLMR panel and/or in the control panel. Two missense variants (p.V629I and p.M560V) that were not highly conserved and were not associated with increased creatine : creatinine ratio, one translational silent variant (p.L472), and 10 intervening sequence variants or untranslated region variants (IVS6+9C-->T, IVS7-151_152delGA, IVS7-99C-->A, IVS8-35G-->A, IVS8+28C-->T, IVS10-18C-->T, IVS11+21G-->A, IVS12+15C-->T, *207G-->C, IVS12+32C-->A) were found only in the XLMR panel but should be considered as unclassified variants or as a polymorphism (p.M560V). Our data indicate that the frequency of SLC6A8 mutations in the XLMR population is close to that of CGG expansions in FMR1, the gene

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

    Science.gov (United States)

    Kennedy, Tyler; Broadie, Kendal

    2017-10-11

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

  12. A gene defect causing a novel progressive epilepsy with mental retardation, EPMR, maps to chromosome 8p

    Energy Technology Data Exchange (ETDEWEB)

    Ranta, S.; Tahvanainen, E.; Karila, E. [Univ. of Helsinki (Finland)] [and others

    1994-09-01

    EPMR (progressive epilepsy with mental retardation) is a newly discovered autosomal recessively inherited disorder which occurs with high frequency in an isolated rural population in Finland. So far 25 patients have been identified, 21 of whom are alive. Twenty-three patients share a common ancestor from the 18th century. The main features of EPMR are: normal early development, tonic-clonic seizures with onset between ages 5 and 10, and mental retardation which begins approximately 2 years after the onset of epilepsy and soon leads to deepening mental retardation. Adult patients do not manage their daily life without help. The EEG is normal at the onset of epilepsy but later progressive slowing of the background activity occurs. The etiology and pathogenesis of EPMR remain known. As this is a novel disease entity without any definitive diagnostic marker we wished to begin its elucidation by first defining its gene locus. A random search for linkage in four multiplex families (only 20 individuals tested) resulted in the finding of linkage to marker D8S264 with a lod score of 4.45 at zero recombination. The EPMR gene resides in a 7 centimorgan interval between marker loci AFM185xb2 and D8S262 with a maximum multipoint lod score of 7.03 at 1.8 centimorgans proximal to D8S264. Physically this region is very distal on 8p. Of the sixteen EPMR chromosomes haplotyped 15 were identical or almost identical. One chromosome, however, had a distinctly different haplotype raising the possibility of there being two different mutations or one very old mutation. These findings are a starting point toward isolating and characterizing the gene and its protein product. Physical mapping has been initiated by isolating nine YACs from the region.

  13. Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study.

    Science.gov (United States)

    Wang, Yang-Yang; Pang, Ling-Yu; Ma, Shu-Fang; Zhang, Meng-Na; Liu, Li-Ying; Zou, Li-Ping

    2017-12-01

    Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis. No statistical significant result was found on genotype-neurocognitive phenotype correlations, which contrasted the previous report. The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748). Statistical significant results were found on epilepsy-neurocognitive phenotype correlations, both on E-chess score (p=0.01) and the occurrence of infantile spasms (p=0.014), which was consistent to the previous study. For children with tuberous sclerosis, instead of genetic factors, epilepsy may play the main role for the presence of mental retardation. Patients with mental retardation tend to have earlier seizure attack, take more AEDs, have more seizure types, and have higher seizure frequency. Among the four cognitive functions in Denver II, social ability and language ability are more vulnerable to be influenced than fine and gross motor ability. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

    Science.gov (United States)

    Curry, Cynthia J; Mao, Rong; Aston, Emily; Mongia, Shella K; Treisman, Tamara; Procter, Melinda; Chou, Bob; Whitby, Heidi; South, Sarah T; Brothman, Arthur R

    2008-08-01

    We describe two unrelated patients with mental retardation and normal karyotypes found to have relatively large homozygous deletions (>150 kb) of different regions detected by array comparative genomic hybridization (aCGH). Patient 1 showed a 157-214 kb deletion at 8q24.2, containing BAC clone RP11-17M8. This patient was born to phenotypically normal parents and has microcephaly, distinctive craniofacial features, brachymetacarpia, brachymetatarsia and severe mental retardation. This BAC clone is listed as a copy number variant on the Database of Genomic Variants (http://projects.tcag.ca/variation/). Heterozygosity for the deletion was found in the mother (father is deceased) and uniparental disomy of chromosome 8 was excluded. Patient 2 showed a 812-902 kb deletion at 12q21.1, containing BAC clone RP11-89P15. This region was not listed in any public database as a known variant. This patient has mild craniofacial dysmorphic features, bifid uvula, peripheral pulmonic stenosis and developmental delay. Heterozygosity for this deletion was confirmed in the phenotypically normal parents and two normal siblings, but surprisingly, homozygosity for the deletion in an apparently normal younger sibling brings into question whether this large homozygous copy number change (CNC) is causal. Homozygous deletions of CNCs have not previously been reported in association with a phenotype or mental retardation. These cases represent homozygosity for presumably benign CNCs, and while causality for the phenotypes cannot be confirmed, similar deletions are bound to be identified more frequently as aCGH is used with increasing regularity. Such homozygous deletions should be viewed as potentially clinically relevant.

  15. Tendency to Ingest Foreign Bodies in Mentally Retarded Patients: A Case with Ileal Perforation Caused by the Ingestion of a Teaspoon

    Directory of Open Access Journals (Sweden)

    İhsan Yıldız

    2016-01-01

    Full Text Available Introduction. Unintentional foreign body ingestion commonly occurs accidentally in children aged between 3 months and 6 years and at advanced ages or results from psychiatric disorders such as hallucination in patients with mental retardation. Most of the ingested foreign bodies are naturally discharged from the body but some of them may require surgical intervention. Presentation of Case. A 29-year-old mentally retarded female patient was admitted to the emergency service with a two-day history of abdominal pain, nausea, and vomiting. Physical examination revealed abdominal tenderness, defense, and rebound on palpation. Radiological examination revealed diffuse air-fluid levels and a radiopaque impression of a metal object in the right upper quadrant. The metal teaspoon causing ileal perforation was extracted by emergency laparotomy. On postoperative day 7, the patient was uneventfully discharged following a psychiatric consultation. Discussion. Foreign body ingestion can occur intentionally in children at developing ages and old-age patients, or adults and prisoners, whereas it may occur unintentionally in patients with mental retardation due to hallucination. However, repeated foreign body ingestion is very rare in individuals other than mentally retarded patients. Conclusion. Mentally retarded patients should be kept under close surveillance by surgeons and psychiatrists due to their tendency to ingest foreign bodies.

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

    Directory of Open Access Journals (Sweden)

    Blackwood Douglas HR

    2004-08-01

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

  17. A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

    Science.gov (United States)

    Männik, Katrin; Parkel, Sven; Palta, Priit; Zilina, Olga; Puusepp, Helen; Esko, Tõnu; Mägi, Reedik; Nõukas, Margit; Veidenberg, Andres; Nelis, Mari; Metspalu, Andres; Remm, Maido; Ounap, Katrin; Kurg, Ants

    2011-01-01

    The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of neurodevelopmental disorders and several recurrent genomic disorders have been defined during recent years. However, some variants considered to be pathogenic have also been observed in phenotypically normal individuals. This underlines the importance of further characterization of genomic variants with potentially variable expressivity in both patient and general population cohorts to clarify their phenotypic consequence. In this study whole-genome SNP arrays were used to investigate genomic rearrangements in 77 Estonian families with idiopathic mental retardation. In addition to this family-based approach, phenotype and genotype data from a cohort of 1000 individuals in the general population were used for accurate interpretation of aberrations found in mental retardation patients. Relevant structural aberrations were detected in 18 of the families analyzed (23%). Fifteen of those were in genomic regions where clinical significance has previously been established. In 3 families, 4 novel aberrations associated with intellectual disability were detected in chromosome regions 2p25.1-p24.3, 3p12.1-p11.2, 7p21.2-p21.1 and Xq28. Carriers of imbalances in 15q13.3, 16p11.2 and Xp22.31 were identified among reference individuals, affirming the variable phenotypic consequence of rare variants in some genomic regions considered as pathogenic. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

    Kousoulidou, Ludmila; Parkel, Sven; Zilina, Olga; Palta, Priit; Puusepp, Helen; Remm, Maido; Turner, Gillian; Boyle, Jackie; van Bokhoven, Hans; de Brouwer, Arjan; Van Esch, Hilde; Froyen, Guy; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; Gecz, Jozef; Kurg, Ants; Patsalis, Philippos C

    2007-01-01

    The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using a chromosome X-specific array-MAPH platform with median resolution of 238kb. Among the 20 families, 18 were experimental, as they were not previously screened with any microarray method, and two were blind controls with known aberrations, as they were previously screened by array-CGH. This study presents the first clinical application of chromosome X-specific array-MAPH methodology. The screening of 20 affected males from 20 unrelated XLMR families resulted in the detection of an unknown deletion, spanning a region of 7-23kb. Family studies and population screening demonstrated that the detected deletion is an unknown rare copy number variant. One of the control samples, carrying approximately 6-Mb duplication was correctly identified, moreover it was found to be interrupted by a previously unknown 19kb region of normal copy number. The second control 50kb deletion was not identified, as this particular region was not covered by array-MAPH probes. This study demonstrates that the chromosome X-specific array-MAPH platform is a valuable tool for screening patients with XLMR, or other X-linked disorders, and emerges the need for introducing new high-resolution screening methods for the detection of genetic imbalances.

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

    Science.gov (United States)

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

    2011-01-01

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

  20. Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Chyi-Chyang; Li, Yueh-Chun; Hsieh, Lie-Jiau; Lee, Chen-Chi; Wang, Wayseen

    2006-11-01

    To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation. Descriptive case study. Mackay Memorial Hospital, National Yang-Ming University, China Medical University, China Medical University Hospital, and Chung Shan Medical University. A 33-year-old woman with primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism. None. Ultrasound, cytogenetic analysis, and laboratory studies of hormones. Laboratory studies revealed the following values: FSH level 72.48 mIU/mL (normal women: 5q32, resulting in monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The patient's karyotype was 46,X,der(X)t(X;5)(q27.3;q32). The parental karyotypes were normal. This is the first report of partial monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The present case provides evidence for the occurrence of primary ovarian failure and mental retardation in females with unbalanced X;autosome translocations.

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

    Science.gov (United States)

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

    2014-04-01

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

  2. Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.

    Science.gov (United States)

    Keppler-Noreuil, Kim; Welch, Judy; Baker-Lange, Katherine

    2007-11-01

    An apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation was described by Gripp et al. 1996. The authors reported on two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, mental retardation, postnatal short stature, and skeletal changes. We report on two additional patients with findings most similar to the reported patients by Gripp et al. 1996, including bilateral congenital cataracts, hearing loss, craniofacial abnormalities, short stature, skeletal abnormalities, and developmental delay. Both of the patients reported herein had chromosome microarray analysis, which showed normal results in Patient 2 but abnormal results in Patient 1 and his mother who both had a chromosome 11q25 subtelomere deletion. Patient 1 and his mother's findings are atypical for the common findings reported in Jacobsen syndrome (11q terminal deletion syndrome), and consistent with the patients reported by Gripp et al. 1996. The etiology for these cases has been unknown. The microarray results on Patient 1 suggest that the other patients with findings of developmental delay, short stature, congenital cataracts, sensorineural hearing loss, and similar craniofacial features may have either a microdeletion of chromosome 11q terminal region or haploinsufficiency of a gene localized to this region. Copyright 2007 Wiley-Liss, Inc.

  3. A new association of multiple congenital anomalies/mental retardation syndrome with bradycardia-tachycardia syndrome: a case report

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    Muralidhar Kanchi

    2009-12-01

    Full Text Available Abstract Introduction Congenital bradycardia-tachycardia syndrome is a rare disorder. Its association with multiple congenital anomalies/mental retardation (MCA/MR syndrome is exceptional. Case presentation We report a case of a new association of MCA/MR with bradycardia-tachycardia syndrome in an 18-year-old Indian man. This syndrome is characterized by mental retardation with delayed development of milestones, progressive scoliosis, cryptorchidism, asymmetrical limbs involving both the upper and lower limbs, sleep apnea syndrome, bradycardia-tachycardia syndrome and Dandy-Walker syndrome. Our patient was admitted for septoplasty with adenoidectomy. Patients with MCA/MR with bradycardia-tachycardia syndrome pose a unique challenge to the anesthesiologist. Establishing a good rapport with these patients is imperative. In addition to that, the anesthesiologist should anticipate the difficulty in intubation and rhythm abnormalities during the peri-operative period. Bradycardia or sinus arrest is a well-known complication during the induction and maintenance of anesthesia. Lignocaine should be used with caution in patients with bradycardia-tachycardia syndrome. Monitoring of ventilation parameters (end-tidal CO2, SPO2, airway pressure is essential as these patients are prone to develop pulmonary artery hypertension secondary to sleep apnea syndrome. Conclusion Based on our clinical experience in detailed pre-operative evaluation and planning, we would emphasize peri-operative anticipation and monitoring for dysrhythmias in patients with MCA/MR and bradycardia-tachycardia syndrome undergoing any surgical procedure.

  4. High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

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    Trovó-Marqui A.B.

    2005-01-01

    Full Text Available A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1 was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis. Among 55 patients (60% females, 40% males who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G were identified. These data were recently published.

  5. THE DISTURBANCE OF METABOLISM OF THE AMINO ACIDS AS A CAUSATIVE FOR THE MENTAL RETARDATION-PHENYLKETONURIA

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    Jasmina IVANOVSKA

    2000-06-01

    Full Text Available PKU is the rare single-gene disease belonging to disturbance of metabolism of the amino acids, which in its own basics halved the mutated gene, whose leaning at the 12-chromosome charge for the synthesis of phenylalanine hydroxylase, turning on phenylalanine into tyrosine. Enzyme block usually leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for normal body function. In PKU there is a toxic accumulation of phenylalanine behind the deficient enzyme, phenylalanine hydrоxylase. The symptoms are: lighten hare, blue eyes, lithe pigmented skin, convulsion, mental retardation, low level of adrenalin caused for the lack of tyrosine, the urine have a specific smell of rats or gab.Inheritance of disease become in autosomal recessive way which always become possibility to stay hidden in the family and to inherit from knee to knee without manifestation of its own phenotype.The only therapy that successfully avoids the causes of this disease is phenylalanine-restricted diet. Today we have some affords for improvement of gene therapy, which can help us for determination to these disease. The success of the therapy depends from timing of the right detection also diagnostics all trough equivalent therapy which can successfully interrupt the new forms of mental retardation and other symptoms.

  6. Effects of stretching and heat treatment on hamstring extensibility in children with severe mental retardation and hypertonia.

    Science.gov (United States)

    Lee, Glory Ps; Ng, Gabriel Yf

    2008-09-01

    To examine the effect of heat and duration of stretching on the extensibility of hamstring muscles and their electromyographic responses to passive stretch in children with hypertonia and severe mental retardation. Randomized cross-over trial. Developmental disability unit in a local hospital. Twenty-nine subjects (9 females) with ages ranged from 4 to 13 years with spastic and/or dystonic hypertonia and hamstring tightness. Subjects received four treatment sessions in random order with each consisting of five repetitions of stretching: (A) 10-second stretching, (B) 30-second stretching, (C) hot pack followed by 10-second stretching, and (D) hot pack followed by 30-second stretching. Each treatment session comprised five repetitions of stretch and successive treatments were separated by at least 24 hours. The distance between greater trochanter and lateral malleolus and hamstring electromyographic (EMG) activity during passive knee extension stretching. Two-way ANOVA showed a larger increase in hamstring extensibility in conditions C and D (1.3 +/- 1.1 cm) than conditions A and B (0.7 +/- 0.9 cm) (Pstretching could result in greater increase in extensibility than stretching alone in children with hypertonia and severe mental retardation. Stretching could promote relaxation of the hamstring muscles regardless of prior heat treatment. Stretching sustained for 30 seconds led to greater relaxation than that for 10 seconds.

  7. Parent and Social-Skills Training for Mentally Retarded Mothers Identified as Child Maltreaters.

    Science.gov (United States)

    Fantuzzo, John W.; And Others

    1986-01-01

    A social skills training program, with the components of individualized performance standards, response-specific feedback, self-monitoring, and group rewards, was conducted with three mildly retarded black mothers identified as child maltreaters. The game contingencies effectively increased the mothers' ability to identify the most effective…

  8. Recent onmiddellijk geheugenonderzoek bij zwakzinnigen [Investigation of short term memory in mentally retarded subjects

    NARCIS (Netherlands)

    Bunt, A.A.

    1975-01-01

    The aim of this literature review is to get a preliminary answer to the problem of the type of information processing deficit of undifferentiated retardates (with an IQ of about 70). Taking the topic of verbal short-term memory as a framework, it appears that children or adults of a subnormal

  9. Public and Professional Constructions of Mental Retardation: Glen Ridge and the Missing Narrative of Disability Rights.

    Science.gov (United States)

    Biklen, Douglas; Schein, Philip Lambert

    2001-01-01

    This article discusses a court case of an adolescent labeled retarded who was sexually assaulted. It examines implications of being spoken about and of others speaking for the labeled person. It then considers how a disability rights/People First framework could shift public and professional understandings and responses to human abuse. (Contains…

  10. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

    Science.gov (United States)

    Uyguner, O; Kayserili, H; Li, Y; Karaman, B; Nürnberg, G; Hennies, Hc; Becker, C; Nürnberg, P; Başaran, S; Apak, M Y; Wollnik, B

    2007-03-01

    Autosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non-specific mental retardation (NSMR). Although many X-linked genes have been identified as a cause of NSMR, only three autosomal genes are known to cause ARNSMR. We present here a large consanguineous Turkish family with four mentally retarded individuals from different branches of the family. Clinical tests showed cognitive impairment but no neurological, skeletal, and biochemical involvements. Genome-wide mapping using Human Mapping 10K Array showed a single positive locus with a parametric LOD score of 4.92 in a region on chromosome 1p21.1-p13.3. Further analyses using polymorphic microsatellite markers defined a 6.6-Mb critical region containing approximately 130 known genes. This locus is the fourth one linked to ARNSMR.

  11. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

    Science.gov (United States)

    Ben Khelifa, Hela; Soyah, Najla; Ben-Abdallah-Bouhjar, Inesse; Gritly, Ryma; Sanlaville, Damien; Elghezal, Hatem; Saad, Ali; Mougou-Zerelli, Soumaya

    2013-09-25

    X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2 Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. Copyright © 2013 Elsevier B.V. All rights reserved.

  12. Chronic hip pain in a boy with mental retardation and cerebral palsy.

    Science.gov (United States)

    Stein, Martin T; Gottsegen, David; Blasco, Peter A; Wolraich, Mark; Hennessy, Michael J

    2010-04-01

    Jonny is a 13 year old boy with spastic quadriparesis and severe mental retardation following Haemophilus influenza type B (HIB) meningitis at 2-months of age. Signs of meningitis started on the evening of his 2-month immunizations that included the HIB vaccine. He presented to his pediatrician with left hip pain that occurred intermittently for a few years and more frequently in the past six months. His parents initially attributed the pain to whizzing around the back yard in a motorized wheelchair. An earlier evaluation of hip pain led to bilateral femoral osteotomies for hip dysplasia. Obesity, associated with inactivity and a tendency to consume fatty foods, complicates Jonny's disabilities. His only activity is a modest amount of physical therapy at school and "floor time" for about one hour each day at home. In the office of his pediatrician, Jonny is friendly, smiling, and verbalizing a few words with his limited expressive vocabulary. He is resistant to a hip examination and grimaces with manipulation of his left hip. Spasticity of the left leg appears increased compared to previous examinations. He has nonpitting edema of his lower legs and feet, a cryptorchid left testicle, and a somewhat tender left inguinal area. Jonny lives with his mother and father in a small house on a busy street less than one-half mile from the pediatrician's office. Jonny's pediatrician often sees him in his wheelchair, accompanied by his mother or grandmother, and waves or stops to chat. He has van services to school, and there is a Hoyer lift in the home, but his parents do not own a van. Recently, Jonny's father finds it more difficult to lift him. The family has also been challenged by the mental health problems of Jonny's two older brothers, and a serious eye injury suffered by his middle brother in a motor-vehicle accident. Jonny's pediatrician has cared for him and his two brothers since birth. Although the parents continue to believe that the HIB vaccine caused his

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

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    Alireza Agha Yousefi

    2013-06-01

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

  14. Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

    Energy Technology Data Exchange (ETDEWEB)

    De Coo, I.F.M.; Smeets, H.J.M.; Oost, B.A. van [and others

    1996-03-01

    Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and subacute necrotizing encephalomyelopathy (Leigh disease) are both associated with an alteration of nt 8993 in the mitochondrial ATPase 6 gene. In NARP, the T-to-G transversion at that position changes leucine into arginine. In Leigh syndrome, the same mutation can be found, as can a T-to-C transition, which changes this leucine into proline. Clinical manifestations occur for NARP when {approximately}60%-90% mutated mtDNA is present. In case of Leigh, these percentages usually exceed 95%. It is known that this mutation can segregate very rapidly within pedigrees. Here we report on a sporadic case with mental retardation and ataxia without retinitis pigmentosa in which the T8993G mutation was found. 13 refs., 1 fig.

  15. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

    Science.gov (United States)

    Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans Hilger; Kuss, Andreas Walter; Tzschach, Andreas

    2009-01-01

    We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 flanked by SNPs rs728293 (4p12) and rs1105434 (4q12). This interval contains more than 40 genes, none of which has been implicated in MR so far. The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye.

  16. Proposal of math activities to develop the process of teaching-learning in schoolchildren with severe mental retard

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    Blanca Rosa Fernández-Carela

    2018-01-01

    Full Text Available This research has as aim to devise a proposal of math activities that they guarantee to increase the development of knowledge, habits and skills that contribute to the development of teaching-learning process of Mathematics in the schoolchildren with severe mental retard. For that, it was selected a sample of schoolchild and teachers, equallythe methodological treatments, the systems of skills and the number of hour’s classes of the subject "Elementary Notions of Mathematics" were analyzed; andthey were conducted interviews to teachers and to the parents of schoolchildren. Analyzing these preliminary results it was elaborated 18 math activities, and they were subjected to valuation using empirical methods, that showed that they contribute to the development of the skills cognitive of the schoolchildren.

  17. Two tails of the normal curve. Similarities and differences in the study of mental retardation and giftedness.

    Science.gov (United States)

    Robinson, N M; Zigler, E; Gallagher, J J

    2000-12-01

    Professionals in the fields of mental retardation and giftedness have much to teach each other as well as the field of human development in general. Examining the commonalities and differences between the fields in social issues, definitions, developmental differences from the norm, values and policy issues, and educational and long-term implications deepens insights about both normal and deviant development. The authors stress the importance of individual differences in the differential design of educational strategies and the application of approaches developed with specialized populations to normally developing children. Current social inequalities affect both of these fields in particular ways. Finally, numerous research agendas can be enhanced by including representatives of both ends of the normal curve.

  18. MULTIDISCIPLINARY APPROACH TO CORRECTIONAL WORK WITH PRESCHOOL CHILDREN, HAVE MENTAL RETARDATION

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    Ольга Сергеевна Кузьмина

    2016-12-01

    Full Text Available Article is devoted to the description of multidisciplinary approach to correctional work with the preschool children having a delay of mental development. Authors of article have described complex multidisciplinary actions within medico-improving, social, pedagogical escort of children with a delay of mental development. In article the principles of correctional work and activity of experts of the different directions which gradually expands informative opportunities of children with a delay of mental development are proved and finally exerts positive impact on development and formation of the personality.

  19. The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

    Science.gov (United States)

    Lenski, Claus ; Frank Kooy, R. ; Reyniers, Edwin ; Loessner, Daniela ; Wanders, Ronald J. A. ; Winnepenninckx, Birgitta ; Hellebrand, Heide ; Engert, Stefanie ; Schwartz, Charles E. ; Meindl, Alfons ; Ramser, Juliane 

    2007-01-01

    Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding l-3-hydroxyacyl-CoA dehydrogenase II displayed a sequence alteration (c.574 C→A; p.R192R) in all patients and carrier females that was absent in unaffected male family members and could not be found in 2,500 control X chromosomes, including in those of 500 healthy males. The silent C→A substitution is located in exon 5 and was shown by western blot to reduce the amount of HADH2 protein by 60%–70% in the patient. Quantitative in vivo and in vitro expression studies revealed a ratio of splicing transcript amounts different from those normally seen in controls. Apparently, the reduced expression of the wild-type fragment, which results in the decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, is pathogenic. Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein. PMID:17236142

  20. Structural Studies of the Tandem Tudor Domains of Fragile X Mental Retardation Related Proteins FXR1 and FXR2

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    Adams-Cioaba, Melanie A.; Guo, Yahong; Bian, ChuanBing; Amaya, Maria F.; Lam, Robert; Wasney, Gregory A.; Vedadi, Masoud; Xu, Chao; Min, Jinrong (Toronto)

    2011-11-23

    Expansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome. In unaffected individuals, the FMRP protein, together with two additional paralogues (Fragile X Mental Retardation Syndrome-related Protein 1 and 2), associates with mRNA to form a ribonucleoprotein complex in the nucleus that is transported to dendrites and spines of neuronal cells. It is thought that the fragile X family of proteins contributes to the regulation of protein synthesis at sites where mRNAs are locally translated in response to stimuli. Here, we report the X-ray crystal structures of the non-canonical nuclear localization signals of the FXR1 and FXR2 autosomal paralogues of FMRP, which were determined at 2.50 and 1.92 {angstrom}, respectively. The nuclear localization signals of the FXR1 and FXR2 comprise tandem Tudor domain architectures, closely resembling that of UHRF1, which is proposed to bind methylated histone H3K9. The FMRP, FXR1 and FXR2 proteins comprise a small family of highly conserved proteins that appear to be important in translational regulation, particularly in neuronal cells. The crystal structures of the N-terminal tandem Tudor domains of FXR1 and FXR2 revealed a conserved architecture with that of FMRP. Biochemical analysis of the tandem Tudor doamins reveals their ability to preferentially recognize trimethylated peptides in a sequence-specific manner.