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Sample records for mental retardation syndrome

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

    African Journals Online (AJOL)

    J.A. Avina Fierro

    2015-06-09

    Jun 9, 2015 ... Abstract We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anoma- lies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed.

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

    African Journals Online (AJOL)

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

  3. 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.

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

    African Journals Online (AJOL)

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

  5. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.

    Science.gov (United States)

    Nevin, N C; Thomas, P S; Hutchinson, J

    1986-05-01

    We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  7. Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

    Directory of Open Access Journals (Sweden)

    J.A. Avina Fierro

    2016-01-01

    Full Text Available We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique showed a balanced translocation between the chromosomes two and eleven: t(2:11 (q32.2/q24.

  8. Implicit Memory in Aging Adults with Mental Retardation with and without Down Syndrome.

    Science.gov (United States)

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

    2003-01-01

    This study examined effects of age and IQ on implicit memory in adults with mild or moderate mental retardation with (n=48) and without (n=46) Down syndrome. Although implicit memory showed an age-associated difference and IQ-associated variation in adults with mental retardation, these effects were relatively small, which supported theories…

  9. Retardo mental Mental retardation

    Directory of Open Access Journals (Sweden)

    Marcio M. Vasconcelos

    2004-04-01

    Online Mendelian Inheritance in Man (OMIM database was searched for information on clinical genetics. SUMMARY OF THE FINDINGS: In October 2003, the number of genetic syndromes associated with mental retardation reached 1,149. Considering the genetic or environmental and congenital or acquired causes of mental retardation, current diagnostic investigation is able to detect the etiology in 50 to 70% of cases. CONCLUSIONS: Diagnostic evaluation should follow a stepwise approach in order to make rational use of the expensive tools of cytogenetics, molecular biology, and neuroimaging.

  10. 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.

  11. Haspeslagh syndrome without severe mental retardation and pterygia?

    NARCIS (Netherlands)

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

    1995-01-01

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

  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. 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.

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

    Science.gov (United States)

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

    2011-10-01

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

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

    Directory of Open Access Journals (Sweden)

    Yoichiro Oka

    2011-10-01

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

  16. Introduction to Mental Retardation

    Science.gov (United States)

    Arc of the United States, 2004

    2004-01-01

    The purpose of this document is to define mental retardation and answer questions related to this topic. According to the American Association on Mental Retardation (AAMR), mental retardation is a disability that occurs before age 18. It is characterized by significant limitations in intellectual functioning and adaptive behaviors as expressed in…

  17. 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...

  18. 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....

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

    African Journals Online (AJOL)

    Rabah M. Shawky

    2016-02-18

    Feb 18, 2016 ... trisomy [19], 3q trisomy [16], distal 3q trisomy with deletion of distal 3p [20], and inversion in chromosome 3 [21]. Chinen et al. [22] described a patient with a severe Opitz trigono- cephaly C syndrome phenotype and balanced reciprocal translocation t(3; 18) (q13.13; q12.1). C syndrome is inherited in an ...

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

    International Nuclear Information System (INIS)

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

    2000-01-01

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

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

    NARCIS (Netherlands)

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

    2007-01-01

    We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven

  2. Mental Retardation in Perspective.

    Science.gov (United States)

    Horvath, Michael; And Others

    This monograph presents a general introduction to the history, classification, and characteristics of mental retardation. It begins with a discussion of the history of mental retardation from ancient Greece and Rome to the present. The beginnings of special education are traced to the early 19th century in Europe. Major influences in treatment of…

  3. Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

    NARCIS (Netherlands)

    Wortmann, S.B.; Rodenburg, R.J.T.; Schwahn, B.; Smeitink, J.A.M.; Morava, E.

    2007-01-01

    We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat.

  4. 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.

  5. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

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

  6. 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.

  7. Radiation and mental retardation

    International Nuclear Information System (INIS)

    Pochin, E.E.

    1988-01-01

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

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

    Science.gov (United States)

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

    2007-08-01

    We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR. Six of the seven had anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. None of the sibs with normal intelligence had jaw or dental anomalies. The child with MR but without a jaw anomaly was somewhat less severely retarded, had seizures and severe psychosis, which may point to his having a separate disorder. Biochemical and neurological studies, including brain MRI and standard cytogenetic studies, yielded normal results; fragile X was excluded, no subtelomeric rearrangements were detectable, and X-inactivation studies in the mother showed random inactivation. We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus). (c) 2007 Wiley-Liss, Inc.

  9. 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...

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  11. A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.

    Science.gov (United States)

    Dundar, M; Ozdemir, S Y; Fryns, J P

    2012-01-01

    In this report we present two brothers with abnormal neurological development, hypotonia, short stature, pylorus stenosis, pectus excavatum, brachycephaly due to craniosynostosis, frontal bossing, depressed nasal bridge, high arched-wide palate, downslant palpebral fissures, low-set, large ears, thin upper lip and bilateral cryptorchidism. The brothers were born to a couple of second cousins and were the third and fourth pregnancies of the mother. The father, the mother and the eldest sibling were phenotypically and chromosomally normal. The clinical findings of the brothers were found to be similar. These clinical findings were compared with syndromes showing some of the symptoms, namely Apert, FG, Floating-Harbor, Shprintzen-Goldberg and Rett Syndromes. However, when the findings were detailed, we observed that they did not match completely any of the syndromes in a discernable way. The MECP2 gene mutation was analysed because of mental retardation, poor neurological evolution and large ears, but no mutation was found. So these cases are presented as a new syndrome with apparent autosomal recessive inheritance.

  12. 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…

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

    Science.gov (United States)

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

    1997-08-22

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-12-31

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

  15. 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.

  16. Sterilization of mentally retarded persons.

    Science.gov (United States)

    Van der Merwe, J V; Roux, J P

    1987-08-01

    South Africa's Abortion and Sterilization Act No 2 (1975) authorizes sterilization for severely retarded women provided the procedure is performed in a state hospital, certified by 2 medical practitioners (1 a psychiatrist), and the parent or guardian gives informed consent. Since 1975, 152 sterilizations (140 female, 12 male) have been performed under the provisions of this Act at Pretoria's H F Verwoerd Hospital. 92% of the patients were under 20 years of age. The majority were classified as profoundly or severely retarded (74) or moderately severely retarded (68). There were 20 patients with Down's syndrome and 22 with cerebral palsy. Hysterectomy was the method of choice in the 109 women in whom menstrual hygiene was a pertinent factor; the remaining 31 women were sterilized by tubal ligation. 98% of the parents or guardians of hysterectomy acceptors surveyed were satisfied with their decision and its outcome. Several indicated their daughter was more calm, cooperative, productive, and less irritable once relieved of her menstrual periods. A multidisciplinary team approach to the decision making process and the individualization of each case are essential to protect the rights of the mentally retarded. Factors such as the psychological trauma likely to result from pregnancy and childbirth, an inability to use contraception, and unsuitability to rear a child must be demonstrated. To ensure that legislation pertaining to the sterilization of the mentally retarded does not lead to abuse, inputs from the mental health professions are required.

  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. Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

    Science.gov (United States)

    Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

    2008-09-01

    Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  20. Mental Illness in Persons with Mental Retardation: ARC Facts.

    Science.gov (United States)

    Weber, Linda R.; Wimmer, Sharon

    This brief factsheet presents information on mental illness in mentally retarded persons. The most prevalent disorders found in this population are schizophrenia, organic brain syndrome, adjustment disorders, personality disorders, depression, and behavioral problems. Few standardized methods of assessment exist for the diagnosis of mental illness…

  1. 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

  2. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

    OpenAIRE

    Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

    1997-01-01

    We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

  3. Deletion 17p11.2 (Smith-Magenis syndrome) is relatively common among patients having mental retardation and myopia

    Energy Technology Data Exchange (ETDEWEB)

    Finucane, B.; Jaeger, E.R. [Elwyn, Inc. PA (United States); Freitag, S.K. [Jefferson Medical College, Philadelphia, PA (United States)

    1994-09-01

    We recently reported the finding of moderate to severe myopia in 6 of 10 patients with Smith-Magenis syndrome (SMS). To investigate the prevalence of SMS among mentally retarded people having myopia, we surveyed a cohort of patients residing at a facility for individuals with mental retardation (MR). Of 547 institutionalized individuals with MR, 72 (13.2%) had moderate to high myopia defined as a visual acuity of minus 3 diopters or more. It should be noted that our institution does not specifically select for people with visual impairment; rather, the facility serves people with a primary diagnosis of MR. Sixty-five of 72 (90.3%) myopic individuals identified were available for cytogenetic analysis. Seventeen (26.2%) of these patients had trisomy 21. Down syndrome (DS) is well known to be associated with eye abnormalities, including myopia. Of 48 individuals with moderate to high myopia not having DS, 5 (10.4%) were shown to have deletions of 17p11.2. This is a high prevalence considering the relative rarity of SMS. By contrast, in a randomized sample of 48 patients without significant myopia at the same facility, we found no individuals with deletion 17p11.2. We conclude that the diagnosis of SMS should be considered in any non-Down syndrome individual having MR and myopia, and that ophthalmologists serving people with MR should be made aware of this deletion syndrome. Furthermore, our results suggest that significant numbers of people having SMS could be identified through selective institutional screening of patients having a combination of MR and moderate to severe myopia.

  4. 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

  5. Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

    OpenAIRE

    Fridman, Cintia; Kok, Fernando; Diament, Aron; Koiffmann, Célia P.

    1997-01-01

    Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.The authors describe the case of a typical Angelman syndrome patient. The proband...

  6. Genetic Syndromes Causing Mental Retardation: deficit and surplus in school performance and social adaptability compared to cognitive capacity

    Directory of Open Access Journals (Sweden)

    Vianello, Renzo

    2009-06-01

    Full Text Available In this paper we reported some results of research carried out in Italy with participants with Mental Retardation (better defined as Intellectual Developmental Disability due to genetic syndromes (Down, Fragile-X, Cornelia de Lange and Prader-Willi, evidencing specific conditions characterized by deficit or ‘surplus’ in reading, writing and maths performances, and in social adjustment respect to the intellectual competencies. In some cases the comparison was made also with respect to abilities of memory and language. Results suggested that the cases of ‘surplus’ are in our context more frequent than those found in International literature, and this may be due to the positive effects of the integration in normal classrooms of most pupils with intellectual disabilities. A debate on these issues, comparing diverse cultural and social realities, is welcome.

  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. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

    Science.gov (United States)

    Murakami, Yoshiko; Kanzawa, Noriyuki; Saito, Kazunobu; Krawitz, Peter M; Mundlos, Stefan; Robinson, Peter N; Karadimitris, Anastasios; Maeda, Yusuke; Kinoshita, Taroh

    2012-02-24

    Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels, is caused by mutations in the coding region of the phosphatidylinositol glycan anchor biosynthesis, class V (PIGV) gene, the product of which is a mannosyltransferase essential for glycosylphosphatidylinositol (GPI) biosynthesis. Mutations found in four families caused amino acid substitutions A341E, A341V, Q256K, and H385P, which drastically decreased expression of the PIGV protein. Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. In contrast, a previously reported PIGM deficiency, in which there is a defect in the transfer of the first mannose, does not result in hyperphosphatasia. To provide insights into the mechanism of ALP secretion in HPMR patients, we took advantage of CHO cell mutants that are defective in various steps of GPI biosynthesis. Secretion of ALP requires GPI transamidase, which in normal cells, cleaves the C-terminal GPI attachment signal peptide and replaces it with GPI. The GPI-anchored protein was secreted substantially into medium from PIGV-, PIGB-, and PIGF-deficient CHO cells, in which incomplete GPI bearing mannose was accumulated. In contrast, ALP was degraded in PIGL-, DPM2-, or PIGX-deficient CHO cells, in which incomplete shorter GPIs that lacked mannose were accumulated. Our results suggest that GPI transamidase recognizes incomplete GPI bearing mannose and cleaves a hydrophobic signal peptide, resulting in secretion of soluble ALP. These results explain the molecular mechanism of hyperphosphatasia in HPMR.

  9. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

    Science.gov (United States)

    Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F; Arold, Stefan T; Monies, Dorota

    2017-11-14

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency. A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic. These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  10. Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

    KAUST Repository

    Alsemari, Abdulaziz

    2017-11-14

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

  11. People with Mental Retardation Are Dying, Legally.

    Science.gov (United States)

    Keyes, Denis; And Others

    1997-01-01

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

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

    OpenAIRE

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

    2017-01-01

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

  13. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

    Science.gov (United States)

    Huang, C; Yang, Y-F; Zhang, H; Xie, L; Chen, J-L; Wang, J; Tan, Z-P; Luo, H

    2012-08-13

    Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance). High-resolution genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in chromosome region 17p11.2. This chromosome region contains RAI1, a critical gene involved in SMS. To the best of our knowledge, this is the first report of an SMS patient in mainland China.

  14. Autism, ADHD, Mental Retardation and Behavior Problems in 100 Individuals with 22q11 Deletion Syndrome

    Science.gov (United States)

    Niklasson, Lena; Rasmussen, Peder; Oskarsdottir, Solveig; Gillberg, Christopher

    2009-01-01

    This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention…

  15. Frequency of fragile-x in x-linked mental retardation

    African Journals Online (AJOL)

    introduction: Fragile X syndrome (FXS) is the most common form of inher‑ ited 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 ...

  16. Parental Attitude Towards Mental Retardation

    Directory of Open Access Journals (Sweden)

    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

  17. Ocular disorder in children with mental retardation.

    Science.gov (United States)

    Joshi, Rajesh Subhash; Somani, Abhishek Arun Kumar

    2013-04-01

    Ocular problems are common in mentally retarded children. Due to population growth these problems are increasing. Prevalence rate is variable from region to region. Data on ocular problems in mentally retarded school children is lacking in this region. The aim of the present study was to identify the ocular disorders in children with mental retardation attending special schools in a district and to study their relationship with the degree of retardation. A total of 241 mentally retarded school children in the age group of 6-16 years attending special schools for the mentally retarded children in a district in central India were examined by a team of ophthalmologist, psychiatrist, and a resident in ophthalmology department of a medical college. Complete ocular examination was done. Ocular problems were identified and categorized according to the intelligent quotient. One hundred and twenty four children (51.45%) had ocular problems. Strabismus (10.37%) and refractive error (20.75%) were the common ocular problems seen in this study. An association was found between the severity of mental retardation and ocular problems (P<0.005). However, no association was seen between the severity of mental retardation and strabismus and refractive error. A high prevalence of ocular problems was seen in mentally retarded school children. Children with mental retardation should undergo annual ophthalmological check up. Early detection and correction of ocular problems will prevent visual impairment in future.

  18. A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

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

  19. A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-03-01

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

  20. Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation.

    Science.gov (United States)

    Kosztolányi, G; Weisenbach, J; Méhes, K

    1995-09-11

    We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme under-development of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients. It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded.

  1. Study of duplication 24bp of ARX gene among patients presenting a Mental Retardation with a syndromic and non syndromic forms

    International Nuclear Information System (INIS)

    Essouissi, Imen

    2006-01-01

    Mental Retardation (MR) is the most frequent handicap. It touches 3% of the general population. The genetic causes of this handicap account for 40% of these cases. ARX gene (Aristaless related homeobox gene) belongs to the family of the genes homeobox located in Xp22.1. It is considered as the most frequently muted gene after the FMR1 gene. It is implicated in various forms of syndromic and nonsyndromic MR. Several types of mutation were identified on the level of this gene, including deletions/insertions, duplications, missense and nonsense mutations, responsible for a wide spectrum of phenotypes. The goal of this work is to seek the most frequent change of gene ARX: duplication 24pb (at the origin of an expansion of the field poly has protein ARX in the position 144-155AA) among Tunisian boys presenting in particular family forms of non specific MR, sporadic forms of non specific MR like certain patients presenting a West syndrome.To prove the duplication of 24 Pb, we used in this work the Pcr technique. The change of duplication 24pb was not found in our series, this could be explained by the low number of cases family studied (38 families) and by the absence of connection studies accusing a mode of transmission related to X chromosome in particular for the sporadic cases. (Author)

  2. The Mentally Retarded Defendant-Offender.

    Science.gov (United States)

    Reichard, Cary L.; And Others

    1980-01-01

    Three conclusions were drawn regarding the majority of the states: they have not adopted a definition of mental retardation; they have litte information on the prevalence of mentally retarded imprisoned persons; and they are not providing training for judges or lawyers on this topic. (CL)

  3. Defining Mental Retardation from an Instructional Perspective.

    Science.gov (United States)

    Dever, R. B.

    1990-01-01

    A definition of mental retardation is presented to clarify perceptions of what should happen to persons with mental retardation after identification and program placement. The definition refers to the need for specific skill training and the development of independence. A rationale and six corollaries to the definition are discussed. (JDD)

  4. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-01-01

    Full Text Available We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. 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.

  5. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

    Science.gov (United States)

    Kirel, B; Kural, N; Yakut, A; Adapinar, B

    2000-01-01

    We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

  6. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, S.; Splitt, M.; Edney, S. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

    1996-06-01

    We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at {theta} = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested. 31 refs., 2 figs., 2 tabs.

  7. CASE REPORT OF A MENTALLY RETARDED CHILD

    Directory of Open Access Journals (Sweden)

    Vasilka GALEVSKA

    2006-06-01

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

  8. SLEEP DISORDERS IN MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    I. A. Kelmanson

    2014-01-01

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

  9. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

    Science.gov (United States)

    Chiyonobu, Tomohiro; Inoue, Norimitsu; Morimoto, Masafumi; Kinoshita, Taroh; Murakami, Yoshiko

    2014-03-01

    Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more kinds of proteins to the human cell surface. There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs). Recently, inherited GPI deficiencies (IGDs) were reported which cause intellectual disability often accompanied by epilepsy, coarse facial features and multiple anomalies that vary in severity depending upon the degree of defect and/or step in the pathway of affected gene. A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW by targeted sequencing. Here we describe the first patient with deficiency of PIGW, which is involved in the addition of the acyl-chain to inositol in an early step of GPI biosynthesis. Therefore, IGD should be considered in West syndrome and flow cytometric analysis of blood cells is effective in screening IGD.

  10. Education of Mentally Retarded Adults

    Directory of Open Access Journals (Sweden)

    Dora Jelenc

    2000-12-01

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

  11. Practitioner Review: Psychopharmacology in Children and Adolescents with Mental Retardation

    Science.gov (United States)

    Handen, Benjamin L.; Gilchrist, Richard

    2006-01-01

    Background: The use of psychotropic medication to treat children and adults with mental retardation (MR) has a long and extensive history. There are no identified medications to address specific cognitive deficits among persons with MR. Instead, psychotropic medications are used to treat specific behavioral symptoms and/or psychiatric syndromes.…

  12. Familial mental retardation: a continuing dilemma.

    Science.gov (United States)

    Zigler, E

    1967-01-20

    The heterogeneous nature of mental retardation, as well as certain common practices of workers in the area, has resulted in a variety of conceptual am biguities. Considerable order could be brought to the area if, instead of viewing all retardates as a homogeneous group arbitrarily defined by some I.Q. score, workers would clearly distinguish between the group of retardates known to suffer from some organic defect and the larger group of retardates referred to as familial retardates. It is the etiology of familial retardation that currently constitutes the greatest mystery. A number of authorities have emphasized the need for employing recent polygenic models of inheritance in an effort to understand the familial retardate. While appreciating the importance of environment in affecting the distribution determined by genetic inheritance, these workers have argued that familial retardates are not essentially different from individuals of greater intellect, but represent, rather, the lower portion of the intellectual curve which reflects normal intellectual variability. As emphasized by the two-group approach, retardates with known physiological or organic defect are viewed as presenting a quite different etiological problem. The familial retardate, on the other hand, is seen as a perfectly normal expression of the population gene pool, of slower and more limited intellectual development than the individual of average intellect. This view generates the proposition that retardates and normals at the same general cognitive level-that is, of the same mental age-are similar in respect to their cognitive functioning. However, such a proposition runs headlong into findings that retardates and normals of the same mental age often differ in performance. Such findings have bolstered what is currently the most popular theoretical approach to retarded functioning-namely, the view that all retardates suffer from some specific defect which inheres in mental retardation and thus

  13. The Revised AAMR Definition of Mental Retardation: The MRDD Position.

    Science.gov (United States)

    Smith, J. David

    1994-01-01

    The Division on Mental Retardation and Developmental Disabilities (MRDD) of the Council for Exceptional Children adopted this position statement concerning the revised American Association on Mental Retardation (AAMR) definition of mental retardation. The position statement views the revised mental retardation definition and classification as a…

  14. Mental Retardation, Poverty and Community Based Rehabilitation

    Directory of Open Access Journals (Sweden)

    Einar Helander

    2009-10-01

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

  15. 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,…

  16. Intrauterine radiation exposures and mental retardation

    International Nuclear Information System (INIS)

    Miller, R.W.

    1988-01-01

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

  17. Intrauterine radiation exposures and mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Miller, R.W.

    1988-08-01

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

  18. Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

    Directory of Open Access Journals (Sweden)

    Cintia Fridman

    1997-06-01

    Full Text Available Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.

  19. 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...

  20. 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

  1. 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...

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

    LENUS (Irish Health Repository)

    Reardon, William

    2010-08-01

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

  3. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

    Science.gov (United States)

    Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita

    2002-03-15

    Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al. [1998: J Med Genet 35: 617-623] is specific for ZFHX1B mutations. In order to address these open questions we analyzed the ZFHX1B gene in five patients, three of whom had "syndromic Hirschsprung disease" two with and one without the facial phenotype described by Mowat et al. [1998], and two of whom had the distinct facial gestalt without Hirschsprung disease. Analyses of microsatellite markers and newly identified SNPs, and/or FISH with BACs from the ZFHX1B region excluded large deletions in all five patients. Direct sequencing demonstrated truncating ZFHX1B mutations in all four patients with the characteristic facial phenotype, but not in the patient with syndromic Hirschsprung disease without the distinct facial appearance. We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."

  4. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-01-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

  5. 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)

  6. 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.

  7. Skin mastocytosis, hearing loss and mental retardation

    NARCIS (Netherlands)

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

    1992-01-01

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

  8. 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…

  9. 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)

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

    African Journals Online (AJOL)

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

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

    Science.gov (United States)

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

    2006-06-15

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

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

    Science.gov (United States)

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

    2003-11-01

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

  13. Differences of the oral colonization by Streptococcus of the mutans group in children and adolescents with Down syndrome, mental retardation and normal controls.

    Science.gov (United States)

    Linossier, Alfredo G; Valenzuela, Carlos Y; Toledo, Héctor

    2008-09-01

    to compare the concentration and serotype of Streptococcus mutans in saliva of Down syndrome (DS), mental retarded (MR) and healthy control (C) individuals of the Región Metropolitana Sur of Santiago of Chile. Hundred and seventy nine male and females children and adolescents, aged between 5 to 19 years, 59 DS, 60 MR and 60 C were studied. Saliva samples were cultured in TYCSB agar for quantification, biochemical and serological tests. ANOVA and Chi-square for homogeneity tests were applied. C, DS and MR presented Streptococcus mutans (serotypes c, e, f) and Streptococcus sobrinus (d, g, h), but only among DS and MR non-typifiable (No-tip) Streptococcus mutans were found. MR and DS showed higher bacteria concentration scores than C (P=0.001). Serotypes showed a significant heterogeneity of concentration scores: d, g, h showed the highest and No-tip the lowest one (P = 0.037). No-tip bacteria were absent in C and present in MR and DS; this result indicates different immune and ecological conditions among these human groups. The score of Streptococcus mutans in saliva was higher in DS and MR than in C.

  14. Older Mentally Retarded Persons: Demographic Profile and Service Requirements.

    Science.gov (United States)

    Seltzer, Marsha Mailick

    An overview is presented on current knowledge about elderly mentally retarded persons. Definitional and incidence issues are addressed, and support is voiced for use of a lower cut-off for the beginning of old age among the retarded than for the general population. Conflicting findings of age-related differences in mentally retarded adults are…

  15. 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).…

  16. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

    Science.gov (United States)

    Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold

    2016-01-01

    ABSTRACT HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI‐anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability. In about half of the patients with the clinical diagnosis of HPMRS, pathogenic mutations can be identified in the coding region in one of the six genes, one among them is PGAP3. In this work, we describe a screening approach with sequence specific baits for transcripts of genes of the GPI pathway that allows the detection of functionally relevant mutations also including introns and the 5′ and 3′ UTR. By this means, we also identified pathogenic noncoding mutations, which increases the diagnostic yield for HPMRS on the basis of intellectual disability and elevated serum alkaline phosphatase. In eight affected individuals from different ethnicities, we found seven novel pathogenic mutations in PGAP3. Besides five missense mutations, we identified an intronic mutation, c.558‐10G>A, that causes an aberrant splice product and a mutation in the 3′UTR, c.*559C>T, that is associated with substantially lower mRNA levels. We show that our novel screening approach is a useful rapid detection tool for alterations in genes coding for key components of the GPI pathway. PMID:27120253

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

    Science.gov (United States)

    Haskins, Jimmy R.; Friel, Charles M.

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

  18. Our Sedation Experience on Mentally Retarded Patients

    Directory of Open Access Journals (Sweden)

    Metin Alkan

    2014-03-01

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

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

    Science.gov (United States)

    Grimm, D; Assouline, B; Piero, A

    2015-12-01

    Autism Spectrum Disorders belong to Pervasive Development Disorders. Although access to education is recommended by the French National High Authority for Health (HAS), the practice remains limited and the reasons for the low education rate of these children have still not been sufficiently explored in the literature. The main objective of this study was to analyze the links between Autism Spectrum Disorder without mental retardation, psychiatric comorbidity and education. The secondary objective was to analyze the cognitive and contextual factors that could limit educational inclusion. Eighty-three autistic patients (3-18years old; 73 males and 10 females) with childhood autism, atypical autism or Asperger's syndrome (criteria from the International Classification of Diseases-10) without mental retardation and in education were assessed at the Alpine Centre for Early Diagnosis of Autism. The sample included 45 subjects with childhood autism, 12 subjects with atypical autism and 26 subjects with Asperger's syndrome. The diagnosis was based on the Autism Diagnostic Interview Revised (ADI-R), in accordance with the recommendations of the HAS, the Autism Diagnostic Observation Schedule (ADOS) and the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV). Our results showed that childhood autism and atypical autism were mainly found in nursery and primary school, whereas Asperger's syndrome was mainly found in secondary school (Chi(2)=18.23; df=6; Pautism and atypical autism were more likely to receive the support of a special educational assistant (Chi(2)=15.61; df=2; Pautism and atypical autism (respectively, F=23.11, PAutism Spectrum Disorders and neuropsychological functioning, as assessed by WISC-IV, along a continuum that ranges from childhood autism (more needs and deficits) to atypical autism to Asperger's syndrome. The Verbal Comprehension Index (VCI) and the Processing Speed Index (PSI) could be used to evaluate the number of hours of support needed

  20. 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,

  1. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

    NARCIS (Netherlands)

    Meloni, I.; Muscettola, M.; Raynaud, M.; Longo, I.; Bruttini, M.; Moizard, M.P.; Gomot, M.; Chelly, J.; Portes, V. des; Fryns, J.P.; Ropers, H.H.; Magi, B.; Bellan, C.; Volpi, N.; Yntema, H.G.; Lewis, S.E.; Schaffer, J.E.; Renieri, A.

    2002-01-01

    X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up to 136 conditions leading to 'syndromic', or 'specific', mental retardation (MRXS) and 66 entries leading

  2. A MENTALLY RETARDED PATIENT WITH SCHIZOPHRENIA

    Directory of Open Access Journals (Sweden)

    KHOO EM

    2008-01-01

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

  3. A mentally retarded patient with schizophrenia.

    Science.gov (United States)

    Rabia, K; Khoo, Em

    2008-01-01

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

  4. 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-.

  5. Social support of mentally retarded persons

    Directory of Open Access Journals (Sweden)

    Danuta Zwolinska

    2015-01-01

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

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

    Science.gov (United States)

    Kropf, Nancy P.; And Others

    1993-01-01

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

  7. Reflections on a Lifetime in Human Services and Mental Retardation

    Science.gov (United States)

    Wolfensberger, Wolf

    2011-01-01

    The author, a life member of the American Association on Mental Retardation, has reflected on over 30 years of primary engagement in mental retardation and inventoried what he believes are certain changes for the better and for the worse that have occurred since the 1950s as well as certain things that have not changed. Some action implications…

  8. Defining Mental Retardation: A Matter of Life or Death

    Science.gov (United States)

    Lichten, William; Simon, Elliot W.

    2007-01-01

    Because persons with mental retardation cannot be executed for murder, the diagnosis becomes a life and death matter. The American Association on Mental Retardation (now the American Association on Intellectual and Developmental Disabilities) and other associations agree that IQ alone is an insufficient criterion and adaptive functioning also…

  9. Mental Retardation and the Neglected Construct of Motivation.

    Science.gov (United States)

    Switzky, Harvey N.

    1997-01-01

    Argues that an educational definition of mental retardation has to be sensitive to the motivational self-system and the self-regulatory processes that underpin performance of students with mental retardation. The theory of motivational orientation that explains the differences in students with intrinsic motivation or extrinsic motivation is…

  10. Defining Mental Retardation and Ensuring Access to the General Curriculum.

    Science.gov (United States)

    Wehmeyer, Michael L.

    2003-01-01

    Discussion of trends in the American Association on Mental Retardation's definition of mental retardation notes a shift toward a support paradigm and a definition stressing the interaction between a person's independent functioning and the various contexts of the person's life. The current definition is seen to promote greater access to the…

  11. 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…

  12. 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…

  13. 38 CFR 4.127 - Mental retardation and personality disorders.

    Science.gov (United States)

    2010-07-01

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

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

    NARCIS (Netherlands)

    Spiecker, B.; Steutel, J.W.

    2002-01-01

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

  15. of retarded inborn errors among mentally Screening for metabolism ...

    African Journals Online (AJOL)

    associated with mental retardation, as well as on the r~sults obtained at the Witrand Care and Rehabilitation Centre at Pot- chefstroom, Transvaal. The prevalence of different types of inborn errors of metabolism among the mentally retarded patients at the Witrand Care and Rehabilitation Centre. were determined by means ...

  16. Crisis Intervention With the Mentally Retarded: The New Treatment Look.

    Science.gov (United States)

    Sternlicht, Manny; Deutsch, Martin R.

    The trend toward normalization of the mentally retarded has brought a new dimension to the problem of their adjustment. Within the past several years, large numbers of the mentally retarded have been discharged into the community from residential facilities; the stress and anxiety they experience at being thrust into a strange and alien world…

  17. Psychiatric Illness in Mentally Retarded Adolescents: Clinical Features.

    Science.gov (United States)

    Masi, Gabriele

    1998-01-01

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

  18. Genetic mental services for retardation patients with severe - The ...

    African Journals Online (AJOL)

    In South Africa mental retardation is still ill-defined as regards the aetiology and general epidemiology. A systematic diagnostic/genetics programme implemented at various institutions for the mentally retarded within the framework of a comprehensive genetic service is described. The progress made is reported and the ...

  19. Social skills development among children with mental retardation ...

    African Journals Online (AJOL)

    The purpose of the study was to find out the extent to which special schools in Ghana enhance social skills development among children with mild and moderate mental retardation. Five special schools for the mentally retarded were used for the study. Fifty-eight teachers and one hundred children (100) formed the sample ...

  20. Thoughts on the Police Interrogation of Individuals with Mental Retardation.

    Science.gov (United States)

    Perske, Robert

    1994-01-01

    This article presents 20 reasons why it is usually easy for police to get confessions from individuals with mental retardation. It urges that police training be seen as everyone's responsibility and that individuals with mental retardation be prepared for possible police interrogation. (DB)

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

    Science.gov (United States)

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

    2015-07-01

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

  2. 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.

  3. Multifarious Functions of the Fragile X Mental Retardation Protein.

    Science.gov (United States)

    Davis, Jenna K; Broadie, Kendal

    2017-10-01

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

  4. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

    Science.gov (United States)

    Guion-Almeida, Maria Leine; Vendramini-Pittoli, Siulan; Passos-Bueno, Maria Rita Santos; Zechi-Ceide, Roseli Maria

    2009-12-01

    We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance.

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

    African Journals Online (AJOL)

    Persons with mental retardation face multiple emotional, cognitive and social challenges. Mental health professionals increasingly agree that individuals with mental disabilities are more vulnerable to sexual abuse and exploitation than the general population. They are particularly exposed to peril because of their often ...

  6. 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,

  7. 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

  8. Cytogenetic Survey for Autistic Fragile X Carriers in a Mental Retardation Center.

    Science.gov (United States)

    Cantu, Eduardo S.; And Others

    1990-01-01

    The cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed only 1.5 percent with the fragile X chromosome. The finding suggests that most persons with fragile X syndrome do not have autistic behaviors severe enough to be identified as a secondary psychiatric diagnosis. (Author/DB)

  9. 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

  10. 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)

  11. 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.…

  12. Development programme motor function of children with mental retardation

    Directory of Open Access Journals (Sweden)

    Zh.L. Kozina

    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. Mental retardation after prenatal exposure. Re-analysis indicated

    International Nuclear Information System (INIS)

    Paile, W.

    2000-01-01

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

  15. Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.

    Science.gov (United States)

    Pretto, Dalyir I; Kumar, Madhur; Cao, Zhengyu; Cunningham, Christopher L; Durbin-Johnson, Blythe; Qi, Lihong; Berman, Robert; Noctor, Stephen C; Hagerman, Randi J; Pessah, Isaac N; Tassone, Flora

    2014-05-01

    A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein. Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, individuals with PM, particularly male carriers, are at high risk to develop fragile X-associated tremor/ataxia syndrome (FXTAS) with aging. Human postmortem FXTAS brains show extensive white matter disease in the cerebellum and the presence of intranuclear inclusions throughout the brain, although their etiologic significance is unknown. In the current work, expression levels of the metabotropic glutamate (Glu) receptor 5 and the Glu transporter excitatory amino acid transporter 1, examined by reverse transcription polymerase chain reaction and western blot analyses, were found to be reduced in the postmortem cerebellum of PM carriers with FXTAS compared with age matched controls, with higher CGG repeat number having greater reductions in both proteins. These data suggests a dysregulation of Glu signaling in PM carriers, which would likely contribute to the development and severity of FXTAS. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Children with Usher syndrome: mental and behavioral disorders

    Directory of Open Access Journals (Sweden)

    Dammeyer Jesper

    2012-03-01

    Full Text Available Abstract Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder. Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

  17. 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.

  18. Unexplained mental retardation: is brain MRI useful?

    Energy Technology Data Exchange (ETDEWEB)

    Decobert, Fabrice; Merzoug, Valerie; Kalifa, Gabriel; Adamsbaum, Catherine [Saint Vincent de Paul Hospital, Department of Radiology, 75674 Paris Cedex 14 (France); Grabar, Sophie [Cochin Hospital, Department of Biostatistics and Medical Information, Paris (France); Ponsot, Gerard [Saint Vincent de Paul Hospital, Department of Neuropaediatrics, Paris (France); Des Portes, Vincent [Saint Vincent de Paul Hospital, Department of Neuropaediatrics, Paris (France); Debrousse Hospital, Department of Neuropaediatrics, Lyon (France)

    2005-06-01

    Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children. Patients and methods: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100). Two radiologists conducted an independent review of the MRI scans. Univariate and multivariate analyses showed a higher incidence of brain anomalies in the MR group than in the control group (53 vs 17, OR=5.7 [2.9-11.1]), for signal abnormalities within the periventricular white matter (OR=20.3 [2.6-155.3]), lateral ventricular dilatation (OR=15.6 [2.0-124]), mild corpus callosum abnormalities (shortness, atrophy) (OR=6.8 [1.8-25.6]) and subtle cerebellar abnormalities, including fissure enlargement (OR=5.2 [1.1-26.2]). The diagnostic value of MRI abnormalities was considered good in 5% of patients (Alexander disease n=1, diffuse cortical malformation n=1, leukomalacia n=1, vermian agenesis n=1, commissural agenesis n=1), and weak in 48% of patients, in whom non-specific abnormalities did not lead to a diagnosis. Some clinical features resulted in a significantly higher percentage of abnormal MRI scans: abnormal neurological examination (82% vs 47%, P=0.008), abnormal skull circumference (66% vs 49%, P=0.04). Motor delay was associated with cerebellar abnormalities (P=0.01). (orig.)

  19. Reproductive rights of mentally retarded persons.

    Science.gov (United States)

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

    2012-03-01

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

  20. Unexplained mental retardation: is brain MRI useful?

    International Nuclear Information System (INIS)

    Decobert, Fabrice; Merzoug, Valerie; Kalifa, Gabriel; Adamsbaum, Catherine; Grabar, Sophie; Ponsot, Gerard; Des Portes, Vincent

    2005-01-01

    Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in children. Patients and methods: The MRI features and clinical data of 100 patients (age 1-18 years) affected with non-progressive MR of unknown origin were compared to an age-matched control group (n=100). Two radiologists conducted an independent review of the MRI scans. Univariate and multivariate analyses showed a higher incidence of brain anomalies in the MR group than in the control group (53 vs 17, OR=5.7 [2.9-11.1]), for signal abnormalities within the periventricular white matter (OR=20.3 [2.6-155.3]), lateral ventricular dilatation (OR=15.6 [2.0-124]), mild corpus callosum abnormalities (shortness, atrophy) (OR=6.8 [1.8-25.6]) and subtle cerebellar abnormalities, including fissure enlargement (OR=5.2 [1.1-26.2]). The diagnostic value of MRI abnormalities was considered good in 5% of patients (Alexander disease n=1, diffuse cortical malformation n=1, leukomalacia n=1, vermian agenesis n=1, commissural agenesis n=1), and weak in 48% of patients, in whom non-specific abnormalities did not lead to a diagnosis. Some clinical features resulted in a significantly higher percentage of abnormal MRI scans: abnormal neurological examination (82% vs 47%, P=0.008), abnormal skull circumference (66% vs 49%, P=0.04). Motor delay was associated with cerebellar abnormalities (P=0.01). (orig.)

  1. STRUCTURE OF BODY DEFORMATIES AMONG PERSONS WITH MENTAL RETARDATION

    Directory of Open Access Journals (Sweden)

    Blagoja GESHOSKI

    2010-04-01

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

  2. 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.

  3. Improving health care communication for persons with mental retardation.

    Science.gov (United States)

    Harper, D C; Wadsworth, J S

    1992-01-01

    There has been little effort directed at training health care professionals in behaviors and attitudes that are effective in communicating with persons with mental retardation. Such training would be beneficial not only to assist those with congenital cognitive deficits but for those with acquired central nervous system conditions as well, for example, dementia. Persons with mental retardation are living in community settings in greater numbers and increasingly participating in vocational, residential, and health care programs. Yet, most health care professionals are not routinely offered an opportunity to gain experience interacting with people who have limited ability to express and understand health care information. An education program was focused on health care professionals' use of basic communication skills when providing health information to an adult who is mentally retarded. A self-study instructional text and a 20-minute companion video provided methods of communicating with a patient with mental retardation in medical and dental care settings. Resident physicians, medical students, nurses, and nursing assistants improved their communication skills, knew more about mental retardation, and were more proactive in health care interviews following training. Health care training needs to incorporate educational opportunities focusing on skills to assist special populations. Brief, structured, and interactive skill training in communication offered early in the health care professional's career has positive benefits for the recipient and the provider.

  4. 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,…

  5. Abandoning the Myth of Mental Retardation

    Science.gov (United States)

    Smith, J. David

    2003-01-01

    In this article, the author talks about the concept underlying the term metal retardation and the effort to define it in a way that is scientifically accurate and in a way that promotes greater sensitivity to the needs of people described by the term which has been continuous for centuries. The author states that a scientifically sound and…

  6. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-07-03

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

  8. 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

  9. OCCUPATIONS IN THE CARE AND REHABILITATION OF THE MENTALLY RETARDED.

    Science.gov (United States)

    BOSS, MILTON R.; GREGG, RANDOLPH M.

    TWENTY-SEVEN FULL TIME OCCUPATIONS INVOLVING DIAGNOSIS, CARE, AND REHABILITATION OF THE MENTALLY RETARDED ARE DISCUSSED. FOR EACH, AN OCCUPATIONAL DEFINITION, THE NEEDED QUALIFICATIONS, AND SOME INDICATION OF THE NECESSARY WORKER TRAIT REQUIREMENTS SUCH AS APTITUDES, INTERESTS, TEMPERAMENT, AND PHYSICAL DEMANDS AND WORKING CONDITIONS ARE…

  10. Prison Adjustment of Youthful Inmates with Mental Retardation.

    Science.gov (United States)

    Smith, Craig; And Others

    1990-01-01

    Youthful prison inmates (N=170) with mental retardation were studied to evaluate adjustment to incarceration, based on the frequency of five disciplinary infractions: hygiene violations, noncompliance with authority, assault on an inmate, assault on a correctional officer, and attempted escape. Results showed that subjects demonstrated poor…

  11. Employment Outlook for Young Adults with Mental Retardation.

    Science.gov (United States)

    Wehman, Paul; And Others

    1985-01-01

    Assesses the employment status of mentally retarded young adults. Results indicated that the total unemployment rate was 58 percent, almost three-fourths of those who were employed earned less than $500 per month, most individuals had never used professional job placement services, and those who were employed had obtained their jobs through family…

  12. Persons with Mental Retardation and Technology Use Patterns and Needs.

    Science.gov (United States)

    Parette, Howard P., Jr.; VanBiervliet, Alan

    A questionnaire examining consumer needs, spending, travel, credit options and utilization practices in adaptive/assistive and educational technology was answered by 2,201 Arkansans with disabilities of all ages. This paper emphasizes results relating to Arkansans with mental retardation. Results indicate Medicare/Medicaid as the single most…

  13. The Mentally Retarded and the Educational System in Denmark.

    Science.gov (United States)

    Finkelstein, Harry

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

  14. Screening for inborn errors of metabolism among mentally retarded ...

    African Journals Online (AJOL)

    The prevalence of different types of inborn errors of metabolism among the mentally retarded patients at the Witrand Care and Rehabilitation Centre. were determined by means of a biochemical screening survey. These results are compared with those of other surveys in South Africa and abroad. One important result points ...

  15. Predictors of Maternal Adjustment to a Child with Mental Retardation.

    Science.gov (United States)

    Oh, Kil Sung; And Others

    1994-01-01

    This survey of South Korean mothers (n=135) of children with mental retardation found significant correlations between parental score on a scale of parental adjustment and socioeconomic status, age of mother, and age of child. No significant trend was found for maternal adjustment and the child's IQ level. (DB)

  16. Psychological Effects on the Family of a Mentally Retarded Child.

    Science.gov (United States)

    Russell, Dorothy S.

    The paper discusses the birth of a mentally retarded infant in terms of initial parent reactions, adjustment, decision to institutionalize, psychological effect on the mother, psychological effect on the father, impact on the marriage, and impact on siblings. The birth is a traumatic experience for the parents and can result in initial feelings of…

  17. Factors which Motivate Job Acceptance and Profoundly Mentally Retarded Children.

    Science.gov (United States)

    Marozas, Donald S.; May, Deborah C.

    1980-01-01

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

  18. 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…

  19. THE MENTALLY RETARDED CHILD AT HOME, A MANUAL FOR PARENTS.

    Science.gov (United States)

    DITTMANN, LAURA L.

    THIS MANUAL IS DEVOTED CHIEFLY TO THE MANAGEMENT OF YOUNG RETARDED CHILDREN AND CONCENTRATES ON DAY-TO-DAY ACTIVITIES--PHYSICAL HEALTH, MENTAL HEALTH, NEED FOR LOVE AND AFFECTION, SIBLING UNDERSTANDING, AND TRAINING IN SELF HELP AND OTHER SKILLS. EARLY CHARACTERISTICS AND NEEDS ARE DISCUSSED. THE FOLLOWING SKILLS ARE TREATED--FEEDING, DRINKING,…

  20. 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…

  1. Career Development and Adults with Moderate to Severe Mental Retardation.

    Science.gov (United States)

    Wadsworth, John; Cocco, Karen

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

  2. Helping Adults with Mental Retardation Grieve a Death Loss.

    Science.gov (United States)

    Luchterhand, Charlene; Murphy, Nancy

    Adults with mental retardation often grieve the loss of their loved ones. However, many times this grief goes unnoticed and individuals are never given the chance to express their grief and recover from the death of those close to them. This guide is designed for helping professionals, including therapists, clergy, nurses, psychologists, hospice…

  3. 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.

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

    African Journals Online (AJOL)

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

  5. Deconstructing visual imagery by the mentally retarded: Implications ...

    African Journals Online (AJOL)

    Deconstructing visual imagery by the mentally retarded: Implications for methodology theory. A Mamvuto. Abstract. No Abstract. Zimbabwe Journal of Educational Research Vol. 18 (1) March 2006: 50-89. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  6. 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…

  7. Learning in Mental Retardation: A Comprehensive Bibliography.

    Science.gov (United States)

    Gardner, James M.; And Others

    The bibliography on learning in mentally handicapped persons is divided into the following topic categories: applied behavior change, classical conditioning, discrimination, generalization, motor learning, reinforcement, verbal learning, and miscellaneous. An author index is included. (KW)

  8. 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., ...

  9. Gitelman′s syndrome: Rare presentation with growth retardation

    Directory of Open Access Journals (Sweden)

    A Gaur

    2014-01-01

    Full Text Available Gitelman′s syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman′s syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman′s syndrome in a four-year-old boy with growth retardation.

  10. 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…

  11. 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.

  12. Slogans and Euphemisms: The Functions of Semantics in Mental Health and Mental Retardation Care.

    Science.gov (United States)

    Bachrach, Leona L.

    The paper examines the way in which semantics relates to policies of deinstitutionalization of persons with mental illness and mental retardation. Different understandings of common terms in the field are illustrated and it is suggested that the government plays many games, both number games and word games, in dealing with homeless people, migrant…

  13. Developmental Differences in the Symptomatology of Psychiatric Inpatients with and without Mild Mental Retardation.

    Science.gov (United States)

    Glick, Marion; Zigler, Edward

    1995-01-01

    The symptomatology of 93 psychiatric inpatients with mild mental retardation was compared with that of a matched sample of inpatients without mental retardation. Patients with retardation displayed more outwardly directed and less inwardly directed symptoms; more symptoms involving action than thought; and psychotic symptom pictures which more…

  14. Studies on oral health in mentally retarded adults.

    Science.gov (United States)

    Gabre, P

    2000-01-01

    During the last decades, a new policy involving normalisation, integration, equality and deinstitutionalisation of mentally retarded (MR) individuals has been accepted in Sweden. Consequently, many institutions have been closed and an increased number of people with MR are now integrated into the Swedish community. The general aim of this thesis was to investigate if a greater degree of independence for MR adults influenced the prevalence of oral diseases. The caries incidence and prevalence, number of remaining teeth, incidence of tooth mortality and interproximal bone loss were investigated in a group of MR adults, aged 21-40 years, all with protracted, regular preventive dental care. The studied variables were related to living arrangements and degree of MR, and were followed during 8.5 years (Papers I, II and VI). Incidence and reasons for tooth mortality were studied during 10 years in institutionalised MR individuals (Paper III). In connection with the closing-down of an institution for MR adults, the changes of oral hygiene habits, sucrose intake and oral microbiological flora were studied in the new integrated living (Papers IV and V). Less restrictive living arrangements and mild forms of MR were correlated to a high caries prevalence in persons with MR. After 8.5 years, the caries incidence had decreased in all subjects, but persons with mild MR and those who lived integrated still had a higher caries prevalence than other MR adults. With the exception of subjects with Down syndrome, the interproximal bone loss during 8.5 years was similar or lower compared to normal Swedish populations. Institutionalised MR subjects had lost an average of 3.72 teeth during 10 years. Periodontitis was the main reason for tooth mortality. Persons who cooperated well with dental treatment and those who used neuroleptics lost fewer teeth during the 10-year period compared to other MR individuals. The proportion of subjects with high levels of mutans streptococci and subjects

  15. Teaching Mental Abacus Calculation to Students with Mental Retardation

    Science.gov (United States)

    Shen, Hong

    2006-01-01

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

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

    Directory of Open Access Journals (Sweden)

    C.B. Santos

    2000-12-01

    Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18% representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

  17. 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......, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...... a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described...

  18. 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.

  19. The Van Hiele geometry thinking levels of mild mental retardation students

    Science.gov (United States)

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

    2017-12-01

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

  20. 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.

  1. 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.

  2. 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...

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

    Directory of Open Access Journals (Sweden)

    Олег Анатольевич Сычев

    2018-12-01

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

  4. 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…

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

    International Nuclear Information System (INIS)

    Otake, Masanori

    1991-01-01

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

  6. 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.

  7. 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.

  8. Superior mesenteric artery syndrome causing growth retardation

    Directory of Open Access Journals (Sweden)

    Halil İbrahim Taşcı

    2013-03-01

    Full Text Available Superior mesenteric artery syndrome is a rare and lifethreateningclinical condition caused by the compressionof the third portion of the duodenum between the aortaand the superior mesenteric artery’s proximal part. Thiscompression may lead to chronic intermittent, acute totalor partial obstruction. Sudden weight-loss and the relateddecrease in the fat tissue are considered to be the etiologicalreason of acute stenosis. Weight-loss accompaniedby nausea, vomiting, anorexia, epigastric pain, andbloating are the leading complaints. Barium radiographs,computerized tomography, conventional angiography,tomographic and magnetic resonance angiography areused in the diagnosis. There are medical and surgical approachesto treatment. We hereby present the case ofa patient with superior mesenteric artery syndrome withdelayed diagnosis.Key words: superior mesenteric artery syndrome, nausea-vomiting, anorexia

  9. 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.

  10. The Attitudes of Individuals with Autism and Mental Retardation towards Sexuality.

    Science.gov (United States)

    Lunsky, Yona; Konstantareas, M. Mary

    1998-01-01

    A study compared sociosexual attitudes of 31 adults with developmental disability, 15 with autism, and 16 with mental retardation, and 25 typical Canadians and 28 Americans. Most differences were contributed by the individuals with mental retardation who endorsed significantly fewer than 50% of sexual activities presented. (Author/CR)

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

    Science.gov (United States)

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

    2008-01-01

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

  12. Mental Retardation as an Educational Construct: Time for a New Shared View?.

    Science.gov (United States)

    Smith, J. David

    1997-01-01

    Examines the historical definition and use of the term "mental retardation," and the 1992 revision of the term by the American Association on Mental Retardation that focuses on limitations in functioning rather than as a characteristic of an individual. Educational implications of the new definition are discussed. (CR)

  13. Levels of Deficits or Supports in the Classification of Mental Retardation: Implementation Practices.

    Science.gov (United States)

    Polloway, Edward A.; Chamberlain, Jolie; Denning, Christopher B.; Smith, J. David; Smith, Tom E. C.

    1999-01-01

    Analyzes the application of levels of deficits or supports in the classification of mental retardation in published research. Analysis of data from three professional journals indicated that the supports model of classification has had no significant impact in subject descriptions reported in mental-retardation research. Implications for teacher…

  14. An Evaluation of State Guidelines for Mental Retardation: Focus on Definition and Classification Practices.

    Science.gov (United States)

    Denning, Christopher B.; Chamberlain, Jolie A.; Polloway, Edward A.

    2000-01-01

    A study investigated the impact of the American Association on Mental Retardation's 1992 manual that provided an alternative approach to mental retardation definition and classification. Forty-four states indicated they based their guidelines on the 1983 manual, four states reported using the 1992 manual, and three used neither model. (Contains…

  15. Developmental Principles of the Luckasson et al. (1992) AAMR Definition of Mental Retardation: A Retrospective.

    Science.gov (United States)

    Polloway, Edward A.

    1997-01-01

    Discusses the revised definition of mental retardation in a 1992 manual by the American Association on Mental Retardation. The key principles that provided the foundation for the development of the new definition are described, including the paradigm shift from facility-based to services-based to supports-based models. (CR)

  16. Social Skills Training for Adults with Mental Retardation in Job-Related Settings.

    Science.gov (United States)

    Huang, Weihe; Cuvo, Anthony J.

    1997-01-01

    Discusses the rationale for social-skills training for workers with mental retardation. Offers definitions and behavioral standards of these skills and differences in the interaction patterns between workers with and without mental retardation. Critically reviews various intervention strategies. Makes recommendations on how to introduce…

  17. 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…

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

    Science.gov (United States)

    Ghaziuddin, M.; And Others

    1991-01-01

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

  19. Sexual Abuse and Exploitation of Children and Adults with Mental Retardation and Other Handicaps.

    Science.gov (United States)

    Tharinger, Deborah; And Others

    1990-01-01

    Issues in the sexual abuse and exploitation of individuals with mental retardation are discussed, including sociolegal considerations of special protection from abuse and neglect, incidence of sexual abuse, increased vulnerability of individuals with mental retardation, nature of the abuse, initial and long-term effects, professional response, and…

  20. Sleep Studies of Adults with Severe or Profound Mental Retardation and Epilepsy.

    Science.gov (United States)

    Espie, Colin A.; Paul, Audrey; McFie, Joyce; Amos, Pat; Hamilton, David; McColl, John H.; And Others

    1998-01-01

    A study of the sleep patterns of 28 people with severe or profound mental retardation and epilepsy found atypical sleep stages with significant depletion of REM sleep and a predominance of indiscriminate non-REM sleep. Sleep diaries completed by caregivers reveal lengthy sleep periods, especially among those with profound mental retardation.…

  1. Current Issues in Mental Retardation: Psychologists' Regional In-Service Meeting.

    Science.gov (United States)

    Caster, Jerry A.; Grimes, Jeff

    Written for Iowa's school psychologists, the report examines current issues in mental retardation including the problem of definition, court actions affecting the schools, and trends in educational programming, evaluation, and diagnosis. Considered are reasons why mental retardation is difficult to define (such as the lack of an acceptable…

  2. Trends in Residential Institutions for the Mentally Retarded. Trends in Education Series.

    Science.gov (United States)

    Roos, Philip

    The author begins with a discussion of definitions of mental retardation, early developments in the care of the mentally retarded, trends in the institutional population, and the disillusionment and dissatisfaction being expressed by professionals, consumer groups, and interested citizens. The detrimental effects of institutionalization documented…

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

    Science.gov (United States)

    Merrill, Edward C.

    2006-01-01

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

  4. Drug utilisation by children and adolescents with mental retardation : a population study

    NARCIS (Netherlands)

    Tobi, H; Scheers, T; Netjes, KA; Mulder, EJ; de Bildt, A; Minderaa, RB

    Objective: Little is known about the utilisation of drugs by mentally retarded children; population studies are even more sparse. In this study the chronic drug utilisation in children aged 4-18 years with mental retardation in a large population in the Netherlands was investigated. Methods:

  5. Mindfulness Training Assists Individuals with Moderate Mental Retardation to Maintain Their Community Placements

    Science.gov (United States)

    Singh, Nirbhay N.; Lancioni, Giulio E.; Winton, Alan S. W.; Adkins, Angela D.; Singh, Judy; Singh, Ashvind N.

    2007-01-01

    The mindfulness procedure "Meditation on the Soles of the Feet" can help individuals with mild mental retardation control aggressive behavior. In this study, our aim was to teach this mindfulness technique, using a multiple baseline design, to 3 individuals with moderate mental retardation who were at risk of losing their community placements…

  6. Medical Diagnostic Consultation concerning Mental Retardation: An Analogue Study of School Psychologists' Attitudes

    Science.gov (United States)

    Wodrich, David L.; Tarbox, Jennifer; Balles, John; Gorin, Joanna

    2010-01-01

    Recent research of relevance to school psychologists suggests that the cause, or etiology, of mental retardation can be established by medical diagnosticians in approximately one-half of cases. In the current study, 109 practicing school psychologists considered a hypothetical case of an elementary student with mental retardation and indicated…

  7. Visual acuity and stereoacuity among mentally retarded children.

    Science.gov (United States)

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

    1992-12-01

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

  8. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

    Science.gov (United States)

    Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

    1991-12-01

    We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

  9. 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.

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

    Science.gov (United States)

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

  11. A Trial of Metformin in Individuals With Fragile X Syndrome

    Science.gov (United States)

    2018-04-10

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

  12. The relationship between characteristics of women with mental retardation and outcomes of the gynecologic examination.

    Science.gov (United States)

    Pulcini, J; Taylor, M O; Patelis, T

    1999-07-01

    This study examines the relationships among client characteristics and the outcomes of gynecologic examination success, sedation use, and cooperation with the examination in a sample of 99 women with mental retardation who received services from a nurse-managed women's health clinic in a large county medical center. Client characteristics that were associated with a successful gynecologic examination for this population of women were isolated. The findings from this study suggest that the presence of behavioral problems, profound mental retardation, and expressive language difficulties are important signals to providers. Special approaches are necessary when performing gynecologic examinations for women with mental retardation.

  13. Work Readiness Skills Among Students with Mild Mental Retardation

    Directory of Open Access Journals (Sweden)

    Vanitha. C.

    2013-12-01

    Full Text Available The main purpose of the present study was to determine the percentage of male and female students with mild mental retardation (MR in exhibiting different levels of work readiness (WR in Karnataka state. The major result of the study was that the majority of students with mild MR (75% exhibited independent level of performance in WR. Less than 25% of students with mild MR exhibited dependent level of performance in WR- (a leading peer group in simple activities under social behaviour skills, (b numbering, purchasing, financing and timing subskills under functional academics skills, (c washing cloths and cooking subskills under domestic behaviour skills, (d understanding and completing a task under occupational skills. In all the skills of WR, more percentage of students with mild MR exhibited independent level of performance compared to female students with mild MR. Where as, female students with mild MR exhibited more independent level of performance compared to male in cooking and washing cloth subskills under domestic behaviour skills. Hence it can be concluded that more percentage of the students with mild MR were able to perform at independent level in WR. Only in certain skills of WR, more percentage of male performed at independent level compared to female students with mild MR. There is a need to identify the reasons for their dependent level of performance in the skills. For their difficulty in certain skills of WR, more training is required to enhance their level of performance

  14. 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.

  15. Some Aspects of Mental Retardation. A Training Guide for the Vocational Rehabilitation Counselor. Final Report.

    Science.gov (United States)

    Phelps, William R.

    Presented for vocational counselors is an overview of mental retardation, including the definition, and etiology. Described are the prenatal factors of heredity (including familial retardation and cranial anomalies), infections (including syphilis and encephalitis), radiation, blood group incompatibility, and unknown or variable etiological…

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

    Science.gov (United States)

    Baroff, George S.

    1991-01-01

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

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

    Science.gov (United States)

    Seltzer, Marsha Mailick; Krauss, Marty Wyngaarden

    1989-01-01

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

  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. A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

    NARCIS (Netherlands)

    Jensen, L.R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.R.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.P.; Chelly, J.; Brouwer, A.P.M. de; Hamel, B.C.J.; Gecz, J.; Ropers, H.H.; Kuss, A.W.

    2010-01-01

    ABSTRACT: BACKGROUND: Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it

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

    Directory of Open Access Journals (Sweden)

    Gunsu YILMA

    2014-01-01

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

  1. 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)

  2. 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)

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

    Science.gov (United States)

    Revenq, Bernard

    1974-01-01

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

  4. 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

  5. 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.

  6. 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

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...

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

    OpenAIRE

    Sahar Mirghobad Khodarahmi; Najmeh Sedrpoushan; Fatemeh Rezaei

    2013-01-01

    The present study investigates the effectiveness of resilience training on life satisfaction among the mothers with mentally retarded children. The method is semi experimental using pretest posttest with control group. Statistical population of research includes elementary mentally retarded student who were enrolled in Najafabad Sareban exceptional school over the period 2012-2013 educational year. Sample group includes 50 subjects who randomly replaced in control and experimental groups. Exp...

  9. [Etiology of mental retardation in children: experience in two third level centers].

    Science.gov (United States)

    Cabarcas, Lissete; Espinosa, Eugenia; Velasco, Harvy

    2013-01-01

    One to three per cent of the world population has mental retardation. This is a frequently consulted and diagnosed disorder in neuropediatric services. Causes are heterogeneous and only a proportion of these patients achieve an accurate etiologic diagnosis. To determine the etiology of patients with mental retardation who go to the neuropediatric services in two third level hospitals. We included pediatric patients diagnosed with mental retardation, and used the diagnostic algorithm proposed by the committee of medical genetics and the Academy of Pediatrics for the evaluation of these patients. The data were entered into an Excel database and subsequently analyzed in SPSS 1.5. The etiology of cognitive impairment was classified into five categories. We included 239 patients: 60.3% were male; according to the severity, 39% of the patients had mild mental retardation, 37.7% had moderate mental retardation, 13.4% had severe mental retardation, and 9.6% had profound mental retardation. In the clinical findings, we found the presence of minor anomalies in 70.3% of patients; these findings in more than two patients suggested a genetic etiology. Definitive etiology of mental retardation was determined in 64.4% of the patients. Environmental causes accounted for 36.4% of this disability in which perinatal hypoxia is the most frequent cause. Genetic causes accounted for 23.8% of the etiology. Finally, 23.8% continued to have no specific diagnosis. Perinatal hypoxia is the most common cause of cognitive impairment in our population. Early treatment of comorbidities of premature infants can impact the bottom line by decreasing motor and cognitive impairment in these patients. Patients with genetic etiology are the second cause. The proportion of undiagnosed patients could decrease if patient access to genetic studies were better and if these studies were covered by the social security regime in our country, regardless of affiliation.

  10. Relationship between the intellectual diagnosis and social development in mild mentally retarded and borderline children

    OpenAIRE

    Sótil de Pacheco, Amparo; Facultad de Psicología, Universidad Nacional Mayor de San Marcos, Lima, Perú

    2014-01-01

    The present study is fruit of the professional experience during years, in the treatment of children and teenagers with educable mental retardation that study in the Center of Special Education N° 06. It seeks to be a contribution to the exact knowledge of the problem of the student with mental retardation, regarding the relationship between intelligence and social adaptation. The Educational System through the modality of Special Education, comes implementing the opening of Shops where labor...

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

    Science.gov (United States)

    Campbell, E M; Meyer, P A

    1981-07-01

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

  12. Prevalence of refractive error in mentally retarded students of Kathmandu Valley.

    Science.gov (United States)

    Ghising, R; Shakya, S; Rizyal, A; Shrestha, R; Shrestha, S; Wang-Harris, S

    2007-12-01

    Mental retardation also known as 'mentally handicap' means a delay or insufficient development of mental capacities. The prevalence of mental retardation in Nepal is 4.1%. Vision being the best sense for their education and daily activities, a cross-sectional and descriptive study was conducted to find out the refractive error among the students in the schools for mentally retarded people. A total of 134 clinically diagnosed cases of mentally retarded students from three different schools of Kathmandu Valley were examined. Distance visual acuity was taken with the help of Cat Ford Vision Drum, SG chart and Kay Picture Test method but first preference was given to SG chart. Cyclo-retinoscopy and fundus examination under mydriasis were done in all the cases. Examination revealed that more than half of the examined had one or more ocular disorders with refractive error being the most common type of ocular morbidity followed by ocular motility disorders. Refractive errors were found in 34.4% in which the most common type of refractive error was simple hypermetropia. In conclusion refractive error was seen commonly among mentally retarded people of Kathmandu Valley.

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

    Science.gov (United States)

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

    2002-08-01

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

  14. Relations in families with a mentally retarded child from the perspective of the siblings.

    Science.gov (United States)

    Andersson, E A

    1997-01-01

    Nowadays most handicapped children in Sweden live with their families. In this study some of the consequences of the normalisation of their lives are analysed, focusing on young siblings of mentally retarded children. Sixteen siblings, aged 5-11, were tested with the Family Relations Test and Kvebaek Family Sculpture Technique, as were siblings in a control group in which each child was chosen to match a sibling in the target group with respect to age and family constellation. The results show few differences between the two groups. According to the Family Relations Test, however, the emotional involvement in the eldest non-retarded sibling differs statistically significant from that of the corresponding child in the control group and especially so with respect to negative incoming feelings. Young siblings also show a tendency to unconsciously place the mentally retarded child at larger distances from themselves than they place the other siblings with respect to the Kvebaek Family Sculpture Technique. The results indicate that siblings of mentally retarded children have another frame of reference when judging family relations compared with that of the children in the control group. Thus siblings of mentally retarded children seem to adapt to change in the family because of the mentally retarded child and qualitatively alter their thinking in relation to the family members.

  15. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    Directory of Open Access Journals (Sweden)

    Baekgaard Peter

    2009-02-01

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

  16. 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.

  17. 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…

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

    Science.gov (United States)

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

    2016-06-28

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

  19. Similarities in the Detection of Stimulus Symmetry by Individuals with and without Mental Retardation.

    Science.gov (United States)

    Carlin, Michael T.; Soraci, Sal A., Jr.

    1993-01-01

    This study found that 10 adolescents with mental retardation processed stimuli varying with respect to symmetry in comparable manner to peers matched for mental age and chronological age. Results argue for the robustness of the symmetry effect across groups differing in intelligence and physically dissimilar stimulus types (checkerboard versus…

  20. 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)

  1. [Clinical research on children mental retardation treated with acupuncture].

    Science.gov (United States)

    Huang, Jin-Bai; Cao, Hui-Fang; Hu, Jiao; Liu, Long-Hao; Wang, Zhi; Lin, Hai

    2013-08-01

    To observe the impacts of acupuncture on intelligent structure, social adaptability and fMRI brain function in children mental retardation (MR). Sixty cases of MR in compliance with the diagnostic standard were randomized into an acupuncture group and a medication group, 30 cases in each one. In the acupuncture group, Sishenzhen [four points, 1.5 cun anterior, posterior and bilateral to Baihui (GV 20)], Zhisanzhen [Shenting (GV 24), bilateral Benshen (GB 13)], Niesanzhen (the point 2 cun directly above the ear a-pex, the two points 1 cun bilateral the first point) and Naosanzhan [Naohu (GV 17) and bilateral Naohu (GB 19)] were selected as the main points. In the medication group, piracetam tablets were prescribed for oral administration. One course of treatment was 4 months in the two groups. The comprehensive efficacy was compared between the two groups at the end of treatment course. China-Wechsler Intelligence Scale for Children (C-WISC) was used to assess the intelligent improvements. Infant-Junior School Student Social Life Ability Scale was adopted to assess the improvements of social adaptability. Five cases were selected from the acupuncture group and fMRI was adopted to compare the brain function imaging changes before and after acupuncture treatment. In the acupuncture group, the final intelligence quotient (FIQ) and social adaptability score after treatment were higher than those before treatment (Pintelligence quotient (PIQ) was improved significantly, indicating the statistically significant difference (Pintelligence quotient (VIQ) did not change apparently (P>0.05). In the medication group, the changes in all the indices were not apparent before and after treatment (P>0.05). In comparison of the changes after treatment between the two groups, FIQ, PIQ and social adaptability score in the acupuncture group were improved more significantly as compared with the medication group (Pintelligent recovery of MR children and improves their social adaptability

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

    OpenAIRE

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

    2016-01-01

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

  3. 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.

  4. 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.

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

    Science.gov (United States)

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

    2008-01-01

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

  6. 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…

  7. 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…

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

    African Journals Online (AJOL)

    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 parents significantly. The study recommends preventative measures to reduce the factors ...

  9. Analysis of trace elements in scalp hair of mentally retarded children

    International Nuclear Information System (INIS)

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

    2002-01-01

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

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating...... that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P......-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation....

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  12. 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.

  13. 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.

  14. 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.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating......-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation....

  16. 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.    

  17. Comparison of Direct Instruction and Problem Solving Approach in Teaching Social Skills to Children with Mental Retardation

    Science.gov (United States)

    Dagseven Emecen, Deniz

    2011-01-01

    This study was aimed at comparing the effectiveness and efficiency of direct instruction and problem solving approaches in teaching social skills to children with mental retardation. The design was adapted alternating treatment design. The subjects of the study consist of a girl and a boy between the ages of 11 and 13 who are mentally retarded. In…

  18. Identifying Feeding Problems in Mentally Retarded Persons: Development and Reliability of the Screening Tool of Feeding Problems (STEP).

    Science.gov (United States)

    Matson, Johnny L.; Kuhn, David E.

    2001-01-01

    A study involving 570 individuals with mental retardation developed the Screening Tool of Feeding Problems, an assessment designed to identify feeding problems presented by persons with mental retardation, and thus facilitate the process of identifying who would benefit from some type of behavioral or medical intervention. Psychometric data are…

  19. 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…

  20. Repetitive Activity in the Play of Children with Mental Retardation.

    Science.gov (United States)

    Lender, Winifred Lloyds; Goodman, Joan F.; Linn, Margaret Inman

    1998-01-01

    This study investigated the amount, quality, and persistence of spontaneous repetitive play and alternative types of play with 28 children (half with Down syndrome). Down-syndrome children engaged in more repetitive activity, though the quality of play was similar for both groups. Results suggest that repetitive play may serve the same…

  1. 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.

  2. 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.

  3. 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.

  4. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

    Science.gov (United States)

    Sempere, Angela; Arias, Angela; Farré, Guillermo; García-Villoria, Judith; Rodríguez-Pombo, Pilar; Desviat, Lurdes R; Merinero, Begoña; García-Cazorla, Angels; Vilaseca, Maria A; Ribes, Antonia; Artuch, Rafael; Campistol, Jaume

    2010-02-01

    Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.

  5. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

    Science.gov (United States)

    Duszyc, Kinga; Terczynska, Iwona; Hoffman-Zacharska, Dorota

    2015-02-01

    Epilepsy in females with mental retardation (EFMR) is a rare early infantile epileptic encephalopathy (EIEE), phenotypically resembling Dravet syndrome (DS). It is characterised by a variable degree of intellectual deficits and epilepsy. EFMR is caused by heterozygous mutations in the PCDH19 gene (locus Xq22.1) encoding protocadherin-19, a protein that is highly expressed during brain development. The protein is involved in cell adhesion and probably plays an important role in neuronal migration and formation of synaptic connections. EFMR is considered X-linked of variable mutations' penetrance. Mutations in the PCDH19 gene mainly arise de novo, but if inherited, they show a unique pattern of transmission. Females with heterozygous mutations are affected, while hemizygous males are not, regardless of mutation carriage. This singular mode might be explained by cell interference as a pathogenic molecular mechanism leading to neuronal dysfunction. Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients. Therefore, the PCDH19 gene is now estimated to be the second, after SCN1A, most clinically relevant gene in epilepsy.

  6. 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…

  7. 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…

  8. Acquisition and Maintenance of Toothbrushing Skills by Students with Cerebral Palsy and Mental Retardation.

    Science.gov (United States)

    Snell, Martha E.; And Others

    1989-01-01

    Three elementary-aged students with quadriplegic cerebral palsy and severe/profound mental retardation were taught three toothbrushing tasks (brushing teeth, rinsing, and wiping mouth) using time delay to fade physical prompts, reinforcement, and error correction. Two students reached criterion on all three tasks; one student reached criterion on…

  9. Cognitive studies in children with mild mental retardation with externalizing behavioural disorders

    NARCIS (Netherlands)

    Meer, Dirk Jan van der

    2000-01-01

    This study had an exploratory character. The aim was to gain more insight into the complex behaviour of children with mild mental retardation and externalizing behavioural disorders. This study is one of the first to focus on such a complex target-group. The goals were: making recommendations for

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

    Science.gov (United States)

    Arc, Arlington, TX.

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

  11. General Papers and Studies Related to the Employment of Individuals with Mental Retardation.

    Science.gov (United States)

    Wehman, Paul, Ed.; Hill, Janet W., Ed.

    Seven papers address the employment of individuals with mental retardation. The first cites nine values critical for employment programs, including opportunities in integrated settings and decent pay for meaningful work. The next paper offers a supported work program consisting of job placement, job-site training, ongoing assessment, and job…

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

    Science.gov (United States)

    Floyd, Frank J.; Phillippe, Kent A.

    1993-01-01

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

  13. Descriptive Assessment of Sleep Patterns among Community-Living Adults with Mental Retardation

    Science.gov (United States)

    Luiselli, James K.; Magee, Christine; Sperry, James M.; Parker, Shawn

    2005-01-01

    There is little information about the sleep patterns of adults who have mental retardation and are supported in the community. In the present study, direct-care staff recorded sleep behaviors of 59 adults residing in 16 suburban group homes. Based on direct observation and measurement procedures, the adults averaged 7.9 hours of sleep each evening…

  14. Family Participation in Assistive Technology Assessment for Young Children with Mental Retardation and Developmental Disabilities.

    Science.gov (United States)

    Parette, Howard P., Jr.; Brotherson, Mary Jane

    1996-01-01

    This article discusses a family-centered approach to assistive technology assessment for young children with mental retardation or developmental disabilities and their families. After a literature review, legal definitions of assistive technology are examined, and a model is presented for supporting and involving families in technology assessment…

  15. Generalization of Work-Related Social Behavior for Persons with Mental Retardation.

    Science.gov (United States)

    Black, Rhonda S.; Langone, John

    This paper reviews the research and attempts to identify instructional techniques and settings to promote generalization of appropriate work-related social behavior in individuals with mental retardation. First, it provides a definition of transition and discusses the importance of training for generalization, discrimination, and maintenance.…

  16. 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…

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

    Science.gov (United States)

    Taylor, Derek V.; And Others

    1993-01-01

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

  18. 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…

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

    Science.gov (United States)

    Conners, Frances A.

    1992-01-01

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

  20. Antecedent Control of Oral Reading Errors and Self-Corrections by Mentally Retarded Children.

    Science.gov (United States)

    Singh, Nirbhay N.; Singh, Judy

    1984-01-01

    The study evaluated effects of manipulating two antecedent stimulus events with respect to oral reading errors and self-corrections of four mentally retarded adolescents. Oral reading errors decreased and self-corrections increased when the children previewed the target text with their teacher before reading it orally. (Author/CL)

  1. Teaching sight words to children with moderate to mild mental retardation: Comparison between instructional procedures

    NARCIS (Netherlands)

    Didden, H.C.M.; Graaff, S.E.H. de; Nelemans, M.; Vooren, M.; Lancioni, G.E.

    2006-01-01

    Differential effects of three training procedures to teach sight words to 13 children with moderate to mild mental retardation were investigated in an alternating treatments design. Number of correct responses was assessed during probe sessions in word-alone (word was presented without picture),

  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. 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…

  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. Reasons for Staff Turnover at a Summer Camp for Mentally Retarded Children and Adults.

    Science.gov (United States)

    Osborne, Norman; Williams, Robert

    1982-01-01

    Factors related to staff turnover in a camp for mentally retarded persons were examined during 1971-1977. Staff were live-in college or graduate school counselors with special education or related majors. Not being able to cope and poor performance occurred in small proportion to total number of reasons documented. (Author/RD)

  6. Effect of a Summer Camp Program on Self-Concept of Mentally Retarded Young Adults.

    Science.gov (United States)

    Hourcade, Jack

    The effectiveness of a summer camp program in enhancing self-concept was investigated with 13 mildly and moderately mentally retarded young adults. The California Test of Personality, Primary Level, was utilized as the measure of self-concept. Results indicated significant improvement in self-concept of the experimental group over the 2-week camp…

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

    Science.gov (United States)

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

    2004-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Mohit Joshi

    2015-01-01

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

  9. Conceptions of Work among Adolescents and Young Adults with Mental Retardation

    Science.gov (United States)

    Cinamon, Rachel Gali; Gifsh, Limor

    2004-01-01

    Semistructured interviews were conducted with 16 Israeli adolescents and young adults with mild mental retardation to examine their perceptions of the world of work. A consensual qualitative strategy of analysis (C. E. Hill, B. J. Thompson, & E. N. Williams, 1997) yielded 4 domains (Definitions of Work, Reasons for Working, Self-Awareness,…

  10. 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…

  11. 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…

  12. 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…

  13. An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly

    International Nuclear Information System (INIS)

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

    1988-01-01

    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. (orig.)

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

    International Nuclear Information System (INIS)

    Otake, M.; Schull, W.J.

    1984-01-01

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

  15. 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…

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

    Science.gov (United States)

    Kuna, Jason

    2001-01-01

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

  17. Self-Injury by People with Mental Retardation: A Compulsive Behavior Hypothesis.

    Science.gov (United States)

    King, Bryan H.

    1993-01-01

    This paper reviews hypotheses suggesting psychological, behavioral, physiological, or neurochemical factors as causes of self-injury in individuals with severe/profound mental retardation. A compulsive behavior hypothesis is introduced, suggesting that self-injury occurs with cerebral dysfunction is compulsive, may occur in the context of a…

  18. Diagnosis and Fluoxetine Treatment of Compulsive Behavior Disorder of Adults with Mental Retardation.

    Science.gov (United States)

    Bodfish, James W.; Madison, James T.

    1993-01-01

    Ten adults with compulsive behavior disorder and six comparison subjects, all with mental retardation, were treated using the medication fluoxetine. Seven of the 10 experimental subjects responded favorably to fluoxetine treatment; none of the comparison subjects responded favorably to the medication. There appeared to be a relation between…

  19. Brief Report: Clonazepam Behavioral Side Effects with an Individual with Mental Retardation.

    Science.gov (United States)

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

    2003-01-01

    This article describes an individual (age 49) with mental retardation who experienced behavioral exacerbation associated with clonazepam prescribed at 2 mg/day to treat aggression, self-injurious behavior, property destruction, and screaming. When clonazepam was reduced and discontinued, these behaviors significantly decreased from 3.1% of…

  20. Current Thrusts of Research Related to Mental Retardation-A Conversation

    Science.gov (United States)

    Thomas, M. Angele, Ed.

    1978-01-01

    Dr. Michael Begab, head of the research centers program in the mental retardation branch of the National Institute of Child Health and Human Development, and Dr. Carl Haywood, director of the John F. Kennedy Center for Research on Education and Human Development at George Peabody College, express their views on relevant issues and describe some…

  1. State of Alaska Plan for Construction of Facilities for the Mentally Retarded.

    Science.gov (United States)

    Betit, J. W.

    The 1970 Alaska State plan for construction of facilities for the mentally retarded is discussed. State agency organization charts, methods of administration, program goals and policies, an election district map showing catchment areas and Indian reservations, an explanation of inventories, and a survey of need and ranking of areas comprise the…

  2. 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…

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

    Science.gov (United States)

    Isett, Robert; Roszkowski, Michael

    1979-01-01

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

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

    Science.gov (United States)

    Sahin, Yasar Guneri; Cimen, Fatih Mehmet

    2011-01-01

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

  5. Self-Management "Additives" for Improving Work Productivity of Mentally Retarded Workers in Sheltered Workshops.

    Science.gov (United States)

    Mullen, Heather; Martin, Garry L.

    1988-01-01

    This study compared the addition of two self-management strategies to typical supervision to improve productivity of eight mentally retarded workers in a sheltered workshop. Both strategies--(1) self monitoring plus goal setting and social contingencies and (2) addition of a monetary bonus for productivity--were equally effective in improving…

  6. Karyotypic studies of 100 mental retarded school children in Bushehr/Iran

    Directory of Open Access Journals (Sweden)

    Manoochehr Shariaty

    2004-02-01

    Full Text Available Mental Retardation (MR is a major complex medical and health problem affecting at least 3-4 percent of world total population. Genetic causes at both the chromosomal and molecular (DNA level accounts for around 50 per cent of all MR cases. To investigate the prevalence of chromosomal abnormalities among mental retarded school age children of Bushehr, 100 mentally retarded school age pupils attending five special training schools aged 10-18 years old were studied using standard Q & G banding techniques. Karyotypes were prepared according to ISCN nomenclature at the 350 bands level. From 96 successfully karyotyped pupils, 25 chomosomal abnormalities were identified in which trisomy 21 was the most frequent abnormality (19 cases. The other observed abnormalities were inversion 9q (two cases, 46,XX+M(one case, 47,XXX/46,XX (one case, 46,XY+15/13 (one case and one case of 47,XXY/46,XY. In conclusion, the overall frequency of chromosomal abnormalities among mental retarded children in Bushehr/Iran is similar to the majority of the West European and Middle Eastern countries and should attract similar health and medical attention & preventive approaches.

  7. 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…

  8. Advanced Microscopic Imaging Methods to Investigate Cortical Development and the Etiology of Mental Retardation

    Science.gov (United States)

    Haydar, Tarik F.

    2005-01-01

    Studies on human patients and animal models of disease have shown that disruptions in prenatal and early postnatal brain development are a root cause of mental retardation. Since proper brain development is achieved by a strict spatiotemporal control of neurogenesis, cell migration, and patterning of synapses, abnormalities in one or more of these…

  9. Physical and psychosocial benefits of modified judo practice for blind, mentally retarded children: a pilot study.

    Science.gov (United States)

    Gleser, J M; Margulies, J Y; Nyska, M; Porat, S; Mendelberg, H; Wertman, E

    1992-06-01

    A modified form of judo training was practiced by a class of 7 blind, mentally retarded children with associated neuropsychiatric disturbances. The biweekly training program lasted for 6 months. Analysis indicated improvements in physical fitness, motor skills, and psychosocial attitude. The authors concluded that a modified form of judo can be used as a therapeutic, educational, and recreational tool for multiply handicapped children.

  10. Commentary on Simon and Lichten's "Defining Mental Retardation: A Matter of Life and Death"

    Science.gov (United States)

    Bellini, James

    2007-01-01

    This article presents the author's comments on Simon and Lichten's "Defining Mental Retardation: A Matter of Life and Death." Lichten and Simon (2007) argued for the use of a Total Quotient (TQ) that combines existing IQ and adaptive functioning scores into a single index. They proposed that the TQ index will improve the accuracy of mental…

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  12. 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

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

    NARCIS (Netherlands)

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

    2007-01-01

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

  14. 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%.

  15. 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)

  16. 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…

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

    Science.gov (United States)

    Holowinsky, Ivan Z.

    1993-01-01

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

  18. 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…

  19. 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…

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

    Science.gov (United States)

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

    2013-01-01

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

  1. 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…

  2. 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,…

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

    Science.gov (United States)

    Gencoz, Faruk

    1997-01-01

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

  4. 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…

  5. Physical fitness of mentally retarded athletes in the North-West ...

    African Journals Online (AJOL)

    Physical fitness of mentally retarded athletes in the North-West Province, South Africa. M Coetzee, MA Monyeki, JH de Ridder. Abstract. No Abstract. African Journal for Physical, Health Education, Recreation and Dance Vol. 12(1) 2006: 82-88. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT ...

  6. 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…

  7. 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…

  8. Age-Appropriate Activities: Effects on the Social Perception of Adults with Mental Retardation.

    Science.gov (United States)

    Calhoun, Mary Lynne; Calhoun, Lawrence G.

    1993-01-01

    Observers (n=94) of videotapes of a young woman with mental retardation engaging in either an age-appropriate leisure activity or an activity designed for much younger persons found that observers associated age-appropriate activities with higher ratings of estimated IQ and reading level. Findings support the development of age-appropriate and…

  9. Annotated Research Bibliography in Physical Education, Recreation, and Psychomotor Function of Mentally Retarded Persons.

    Science.gov (United States)

    Klappholz, Lowell, Ed.

    Presented is a research bibliography (covering the years 1888 to 1975) which contains annotations of 439 studies and bibliographical citations of 419 additional projects on physical education, recreation, and psychomotor function of mentally retarded persons. In addition to review and analyses of trends and major findings, unanswered questions…

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

    Science.gov (United States)

    Ferron, Laurent

    2016-10-15

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

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

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    Hassan Daneshmandi

    2013-10-01

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

  12. [Autism and mental retardation: a study of the early social communication].

    Science.gov (United States)

    Viellard, M; Da Fonseca, D; De Martino, S; Girardot, A-M; Bastard-Rosset, D; Duverger, H; Genest, E; Yvonnet, K; Pala, H; Deruelle, C; Poinso, F

    2007-03-01

    To determine developmental communication profiles in young autistic children with mental retardation. A group of 19 autistic children (mean age=43 months) were matched with a group of 11 mentally retarded children (mean age=39 months) on mental age (17,6 months). All of these children were without speech (less than 5 words of vocabulary). Communication skills were assessed with the Guidetti-Tourrette scales (ECSP), French adaptation of the Seibert-Hogan scales. Autistic children displayed a much lower score than mentally retarded children in the 3 functions of early social communication (behavior regulation, social interaction and joint attention). The developmental communication profiles was the same in the 2 groups. The results showed evidence of distortion in autistic children development: they displayed important deficits in communication skills, in comparison with cognitive skills. Autistic children mainly displayed requesting gestures: they used adults to help them to reach a goal, instead of regarding them as social partners. However, young children who have mental age less than 18 months mainly use the same functions of communication, with or without autistic trouble. There is a same developmental sequence in communication skills in young children, with or without autistic trouble.

  13. Efficacy of two antiplaque and antigingivitis treatments in a group of young mentally retarded patients.

    Science.gov (United States)

    Montiel-Company, J M; Almerich-Silla, J M

    2002-01-01

    Chemical management of dental plaque for controlling oral hygiene becomes necessary in high-risk patients such as the mentally retarded. Thirty-seven mentally handicapped patients aged 10-19 years and with severe plaque and gingivitis were divided into two treatment groups: Group I (daily mouthrinse with triclosan-zinc for 8 weeks) and Group II (0.2% chlorhexidine spray for 2 weeks). Both groups were evaluated at the start of the study and after 2 and 8 weeks. Significant reductions in plaque were observed in Group I after two weeks, with very significant improvements in both plaque and gingivitis after 8 weeks. In Group II, highly significant reductions in both indices were recorded after two weeks of treatment - significance persisting after 8 weeks. Triclosan-zinc mouthrinse and chlorhexidine spray can be effective adjuncts to tooth brushing for controlling dental plaque and gingivitis in mentally retarded patients.

  14. of retarded inborn errors among mentally Screening for metabolism ...

    African Journals Online (AJOL)

    regard are ~ocumented and discussed. S Atr Med J 1~; 63: 14-16. Patients. When the biochemical screening programme was initiated at. Witrand Centre, very little information on the aetiology of the mental handicap of the patients was available. Moreover, for a substantial number the family history was fragmentary or even.

  15. 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.

  16. 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.

  17. Genetics Home Reference: Mowat-Wilson syndrome

    Science.gov (United States)

    ... is often associated with an unusually small head ( microcephaly ), structural brain abnormalities, and intellectual disability ranging from ... for This Condition Hirschsprung disease-mental retardation syndrome microcephaly, mental retardation, and distinct facial features, with or ...

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

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    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.

  19. Molecular characterization of X chromosome fragility in idiopathic mental retardation

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    Heba Alla Hosny Omar

    2016-04-01

    Conclusions: A simplified checklist of fragile X should be used for patients with idiopathic MR and those patients above score 3 should be tested for FXS. The diagnostic assay may be used as a screening method for fragile X syndrome being rapid and cost effective compared to other techniques. In addition, screening of all relatives of proven patients should be performed to detect clinically unidentified cases for provision of proper counseling and optimal management of detected cases.

  20. 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.

  1. Homemaking for the Educable Mentally Retarded Girl; In-Service Training Materials for Teachers of the Educable Mentally Retarded.

    Science.gov (United States)

    Meyen, Edward L.; Carr, Donald L.

    Designed for use with educable mentally handicapped girls, the guide stresses the importance of certain homemaking areas. They include grooming and personality, home management, foods and nutrition, clothing, and child care. For each area, an outline of suggested content is provided, specifying sub-units, general objectives, and activities. Sample…

  2. Ukuran kranial dan indeks sefalik pada anak retardasi mental (Cranial size and cephalic index of mentally retarded children

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    Dewi Elianora

    2013-09-01

    Full Text Available Background: Mental retardation is imperfect condition of mental development which resulted in delay of motoric development, speech and in adaption with the environment. The common symptoms is brain growth disorder, which affects the cranial size and the intelectual function lower than average (<70. Purpose: This study was aimed to determine the difference of cranial size and cephalic index of mentally retarded children compared with normal chilren based on antropometry and cephalometric measurement. Methods: This research was epidemiology analytic observational with case control design. The cranial size and cephalic index measurements were carried out on 168 children in range of age 7-12 years old (84 were moderate mental retarded children and 84 were normal children. Data was statistically analyzed with t-test. Results: The size of cranial and cephalic on index on mentally retarded children were smaller than normal children. S-N and G-Op size were shorter than normal children, the results of S-N differences (-4.4, S-Ar (-2.38 and G-Op (-5.5, Eu-Eu (-8.24. The results analysis of linear and angle component cranial base (S-N, S-Ar and mentally retarded children were smaller than normal children.Latar belakang: Retardasi mental merupakan ketidaksempurnaan perkembangan mental yang mengakibatkan keterlambatan perkembangan motorik, bicara dan penyesuaian diri dengan lingkungan. Gejala umum adalah gangguan

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

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    Samuel H. Friedman

    2013-11-01

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

  4. Self-determination and mental retardation: is there an association with living arrangement and lifestyle satisfaction?

    Science.gov (United States)

    Duvdevany, I; Ben-Zur, H; Ambar, A

    2002-10-01

    Self-determination and lifestyle satisfaction of 80 adults with mild or medium mental retardation living in group homes or their parents' homes were examined. They were assessed in regard to self-determination, as indicated by choices made in the domestic, financial, health, social, and work domains. Lifestyle satisfaction with residence, the community, associated services, and employment was also assessed. Results show that those from group homes were lower on self-determination but higher on lifestyle satisfaction, providing support for the commitment to normalization and community inclusion to enhance lifestyle satisfaction. However, questions about the extent to which people with mental retardation are afforded decision-making opportunities and self-determined behavior remain. We suggest that service providers and caregivers should encourage and create such opportunities.

  5. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

    Science.gov (United States)

    Arias, Angela; Corbella, Marc; Fons, Carmen; Sempere, Angela; García-Villoria, Judit; Ormazabal, Aida; Poo, Pilar; Pineda, Mercé; Vilaseca, María Antonia; Campistol, Jaume; Briones, Paz; Pàmpols, Teresa; Salomons, Gajja S; Ribes, Antonia; Artuch, Rafael

    2007-11-01

    To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall. We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS. Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test: pdeficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.

  6. Influences of an analog of the neuropeptide ACTH 4--9 on mentally retarded adults.

    Science.gov (United States)

    Walker, B B; Sandman, C A

    1979-01-01

    In a double-blind procedure, 24 mentally retarded adults received 0 mg, 5mg, or 20 mg of an analog of the neuropeptide ACTH 4--9. Following treatment with peptide, the subjects were given the Trails B Test (from the Halstead-Reitan Neuropsychological Battery), the Peabody Picture Vocabulary test, the Benton Visual Retention Test, a concept-formation task, and a standard orienting sequence. The results of the behavioral tests suggested that attentional processes were enhanced in subjects treated with the peptide. The present study, in conjunction with another investigation using the neuropeptide ACTH/MSH 4--10 (Sandman, George, Walker, Nolan & Kastin, 1976), indicates that attentional deficits in mentally retarded adults, traditionally assumed to be irreversible, may be influenced by treatment with fragments of the neuropeptides ACTH and MSH.

  7. 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. 

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

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    Sahar Mirghobad Khodarahmi

    2013-11-01

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

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

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    Habibollah Ghassemzadeh

    1994-06-01

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

  10. [Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)].

    Science.gov (United States)

    Plöchl, E; Jarosch, E

    1977-10-01

    Congenital hyperdibasicaminoaciduria without cystinuria was detected in a mentally but not physically retarded boy. Plasma lysine and arginine were normal, whereas plasma ornithine was decreased. Although oral or intravenous loading tests could not be performed, the history without vomiting or diarrhea, and the normal physical development indicated an unimpaired intestinal transport of basic aminoacids. Our case could be a further mutant of this transport defect which concerns the renal tubuli only.

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

    International Nuclear Information System (INIS)

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

    1981-01-01

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

  12. 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...

  13. Structural Studies of the Tandem Tudor Domains of Fragile X Mental Retardation Related Proteins FXR1 and FXR2

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. 3. Specifics of Implementation Forum Theatre for People with Mild and Moderate Mental Retardation

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    Kozáková Zdeňka

    2016-03-01

    Full Text Available The paper presents an empirical study in the area of implementation theatre forum for people with mild and moderate mental retardation in an environment of sheltered housing. Forum Theatre already takes place in primary schools, in orphanages, in the Roma community and so on. There is a lack of experience and research studies with the target group of people with intellectual disabilities. The present research was carried out in several phases over a period of one year. The main objective was to determine whether it is possible to use forum theatre techniques and subjects with mild to moderate mental retardation - whether this target group will be able to process the theatre forum to engage, understand the meaning and function of these techniques and that these techniques can be used as an alternative remedy to solve the problem and conflict situations. The research sample consisted of 11 adult clients of sheltered housing with mild to moderate mental retardation and 11 members of the realization team of the forum theatre (7 Actors and 4 employees in direct care in sheltered housing. Used qualitative research methods were focus groups (always followed the realization of the theatre workshop forum, participant observation and quantitative method was a questionnaire. Research has brought new insights and information.

  15. 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.

  16. Effect of Rhythmic Movement and Music on Attention Span of Mentally-Retarded Female Students

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    Seyyd Mahmoud Mirzamani

    2008-04-01

    Full Text Available Objective: This research is aimed to investigate the effect of rhythmic movement and music on attention span of mentally-retarded girl students. Materials & Methods: Twenty six mentally- retarded forth and fifth graded girls who were educating in an exceptional children school in shahr-e-rey participated in this survey. In this research which is an experimental–interventional study with a pretest-posttest and control group design, the students were selected by convenient sampling and assigned to two matched groups by balanced randomized method. Then musical activities intervention including music and rhythmic movements executed in experimental group for 15 weeks and twice in a week. During this period the control group received routine educational program. Before and after intervention, the attention spans of two groups were assessed by cancellation subscale of KLT. Data were analyzed by use of non – parametric statistical tests such as: Wilcoxon test and U-Man-Witney test. Results: There was significant difference in experimental group between mean of attention pretest and posttest scores (P<0/001, but in control group, there was no significant difference (P=0/367. Also, there was significant difference between mean of attention scores of two groups after intervention (P=0/002, but there was no significant difference before intervention (P=0/520. Conclusion: This finding reveals that musical activities can enhance attention level in mentally-retarded students.

  17. Behavioral treatment of challenging behavior in individuals with mild mental retardation: A 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

  18. 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

  19. Hyperconnectivity and slow synapses during early development of medial prefrontal cortex in a mouse model for mental retardation and autism

    NARCIS (Netherlands)

    Testa-Silva, G.; Loebel, A.; Giugliano, M.; de Kock, C.P.J.; Mansvelder, H.D.; Meredith, R.M.

    2012-01-01

    Neuronal theories of neurodevelopmental disorders (NDDs) of autism and mental retardation propose that abnormal connectivity underlies deficits in attentional processing. We tested this theory by studying unitary synaptic connections between layer 5 pyramidal neurons within medial prefrontal cortex

  20. Interstitial Deletions of the Short Arm of Chromosome 4 in a Patient With Mental Retardation and Focal Seizure

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    Pen-Hua Su

    2011-06-01

    Full Text Available Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4(p12p15.2].

  1. Cross-sectional studies of grammatical morphemes in autistic and mentally retarded children.

    Science.gov (United States)

    Bartolucci, G; Pierce, S J; Streiner, D

    1980-03-01

    The frequency of occurrence of functors in obligatory contexts was studied in verbal autistic and mentally retarded children matched for nonverbal mental age, and the percentages of correct use of functors were rank-ordered. The grammatical complexity of their language was also described using a transformational grammar. The data were compared to those obtained in a normal group matched for mental age and to the data presented by Brown (1973) and deVilliers and deVilliers (1973) in younger children. The autistic subjects omitted functors frequently and independently of the grammatical complexity of their language. The rank ordering of morphemes was consistent within both the autistic and mentally retarded groups but showed no correlation between the two groups or to the rank ordering described by deVilliers and deVilliers. It is suggested that functors in autistic subjects may develop in an atypical but consistent order and that this may be due to specific semantic deficits, particularly in the areas of person and time deixis.

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

    Directory of Open Access Journals (Sweden)

    Franc Smole

    2004-05-01

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

  3. 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.

  4. Descriptive epidemiology of Cornelia de Lange syndrome in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Tokic, Visnja; Loane, Maria

    2008-01-01

    Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present...

  5. The bantam microRNA is associated with drosophila fragile X mental retardation protein and regulates the fate of germline stem cells.

    Directory of Open Access Journals (Sweden)

    Yingyue Yang

    2009-04-01

    Full Text Available Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP. We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Drosophila ovary; however, the molecular mechanism behind this remains elusive. In this study, we used an immunoprecipitation assay to reveal that specific microRNAs (miRNAs, particularly the bantam miRNA (bantam, are physically associated with dFmrp in ovary. We show that, like dFmr1, bantam is not only required for repressing primordial germ cell differentiation, it also functions as an extrinsic factor for germline stem cell maintenance. Furthermore, we find that bantam genetically interacts with dFmr1 to regulate the fate of germline stem cells. Collectively, our results support the notion that the FMRP-mediated translation pathway functions through specific miRNAs to control stem cell regulation.

  6. 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.

  7. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    Science.gov (United States)

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. © 2015 S. Karger AG, Basel.

  8. 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

  9. The 1983 A.A.M.D. Definition and Classification of Mental Retardation: The Apparent Impact of the CEC-MR Position.

    Science.gov (United States)

    Kidd, John W.

    1983-01-01

    The 1983 definition and classification of mental retardation of the American Association on Mental Deficiency reflects positions of the Council for Exceptional Children's Mental Retardation division by raising the ceiling IQ for classification, abandoning the standard deviation as a measurement criterion, and providing flexibility in IQ scores at…

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

    Science.gov (United States)

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

    2013-04-01

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

  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

    previously reported cases with SBCADD, both originating from Somalia and Eritrea, indicating that it is relatively prevalent in this population. Autism has not previously been described with mutations in this gene, thus expanding the clinical spectrum of SBCADD. PMID: 17883863 [PubMed - in process]......ABSTRACT: BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. METHODS: We report a four-year-old mentally retarded Somali boy with autism...

  12. 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....

  13. Chernobyl nuclear catastrophe and the high risk potential for mental retardation

    International Nuclear Information System (INIS)

    Holowinsky, I.Z.

    1993-01-01

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

  14. Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

    Science.gov (United States)

    Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

    2016-01-01

    Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

  15. 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.

  16. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  17. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

    Science.gov (United States)

    Le Meur, N; Holder-Espinasse, M; Jaillard, S; Goldenberg, A; Joriot, S; Amati-Bonneau, P; Guichet, A; Barth, M; Charollais, A; Journel, H; Auvin, S; Boucher, C; Kerckaert, J-P; David, V; Manouvrier-Hanu, S; Saugier-Veber, P; Frébourg, T; Dubourg, C; Andrieux, J; Bonneau, D

    2010-01-01

    Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH. 5q14.3 microdeletions ranging from 216 kb to 8.8 Mb were detected in five unrelated patients with the following phenotypic similarities: severe mental retardation with absent speech, hypotonia and stereotypic movements. Facial dysmorphic features, epilepsy and/or cerebral malformations were also present in most of these patients. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, the gene for a protein known to act in brain as a neurogenesis effector, which regulates excitatory synapse number. In a patient with a similar phenotype, an MEF2C nonsense mutation was subsequently identified. Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.

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

    NARCIS (Netherlands)

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

    2002-01-01

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

  19. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms vs focal seizures

    Science.gov (United States)

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-01-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure-free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex, but was less effective in patients with focal seizures. PMID:22752486

  20. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures.

    Science.gov (United States)

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-03-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in a single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex but was less effective in patients with focal seizures.

  1. 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

  2. [Place of socialization/communication learning groups in autism with moderate mental retardation].

    Science.gov (United States)

    Liratni, M; Blanchet, C; Pry, R

    2014-01-01

    Studies based on social skills training groups for people with autism always target people without mental retardation and the subjects are more often teenagers and adults than children. Quantitative and standardized psychometrics are not routinely studied. Describing the changes in symptoms and social communication skills of five children with autism and moderate mental retardation, who participated in 20 sessions in a social skills training group appropriate to their developmental level. Standardized scales to develop the target skills and applied behavioral analysis and structured techniques were implemented in these sessions. To measure changes, we assessed the children before and after the 20 sessions (Vineland Adaptative Behavior Scale and Autism Diagnostic Observation Schedule) and we noted whether or not of the target skills were achieved. The scores showed a significant improvement in autistic symptoms and social communication skills. The results show that this type of educational experience appears relevant to meeting objectives in social and communication skills. However, any conclusions as to a significant impact of the intervention are strongly limited by the absence of a control group. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. Mental retardation and parental occupation: a study on the applicability of job exposure matrices.

    Science.gov (United States)

    Roeleveld, N; Zielhuis, G A; Gabreëls, F

    1993-10-01

    In a case-referent study on mental retardation and parental occupation, the applicability of job exposure matrices for the identification of risk factors was evaluated. The parents of 306 mentally retarded children (cases) and 322 referents were interviewed about their occupational activities in the pregnancy period. Detailed occupational histories were obtained that were compared with exposures generated by two different job exposure matrices. The agreement between interview and matrices was low: the sensitivity ranged from 17.9% to 32.4% and the percentages of false positive exposures from 66.7% to 96.0%. By means of the interview, significantly increased odds ratios (ORs) were found for exposure of the mother in late pregnancy to radiation (OR = 9.3), mercury (OR = 8.7), organic solvents (OR = 1.7), hair cosmetics and dyes (OR = 3.7), paint (OR = 2.7), hexachlorophene/phenylphenol (OR = 3.1), antibiotics (OR = 2.9), and dust (OR = 2.2) and for working with copying machines (OR = 3.0) or in occupations with poor climatological circumstances and permanent contact with people. The last was confirmed by the British matrix (OR = 1.7). Otherwise, most of the mentioned associations were missed by the job exposure matrices. Therefore, these matrices were not considered to be applicable in this particular study, nor in most other reproductive epidemiological studies in view of their general properties and limitations.

  4. Brain abnormalities among the mentally retarded prenatally exposed atomic bomb survivors

    International Nuclear Information System (INIS)

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

    1992-07-01

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

  5. A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2015-01-01

    Full Text Available The introduction of the latest genetic techniques into practice could discover a basis for the comorbidity of genetic epilepsies and behavioral disturbances with cognitive impairments. Some chromosomal syndromes are characterized by a specific electroencephalogram (EEG pattern, the type of seizures, and the variant of the course of epilepsy. This paper describes a case of synaptic RAS GTP-ase-activating protein 1 (SYNGAP1 gene mutation in a 9-year-old female patient with eyelid myoclonic epilepsy, atypical absences, and atypical autism with mental retardation. The patient’s parents visited a physician for epilepsy (myoclonic absences, markedly delayed psycho-speech development, and specific communication problems in the child. The characteristics of autistic behavior were manifested from birth; routine EEG recorded epileptiform activity at the age of 2 years; epileptic seizures appeared at 5 years. Valproic acid and levetiracetam in this patient exerted a good effect on seizures; however, a clinical and encephalographic remission was achieved by a combination of levetiracetam and ethosuximide. The clinical case including the neurological and psychic statuses, logopedic characteristics, the result of psychological testing, and video-EEG monitoring findings are analyzed in detail.The SYNGAP1 gene is located on chromosome 6p21.3. About 50 cases of SYNGAP1 syndrome are now known worldwide. After normal maternal pregnancy and delivery, the patients show delayed psychomotor development with pronounced regression at 1 to 3 years of age. At this age, there are diffuse polyspike discharges on the EEG or an onset of generalized epileptic seizures (atonic, myoclonic, eyelid myoclonic, and absence seizures, commonly photosensitivity and autoinduction, mental development stops, speech regresses, behavioral disorders that are typical of autism develop. Drug-resistant epilepsy is noted in approximately half of the described cases. There is a correlation

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

    Directory of Open Access Journals (Sweden)

    Aguinaldo Gonçalves

    1976-03-01

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

  7. Recurrent seizures, mental retardation and extensive brain calcinosis related to delayed diagnosis of hypoparathyroidism in an adolescent boy.

    Science.gov (United States)

    Eom, Tae-Hoon; Kim, Young-Hoon; Kim, Jung-Min

    2015-05-01

    Reports of adolescent patients presenting with intractable seizures and mental retardation secondary to idiopathic hypothyroidism are uncommon in the literature. In this case, we report a 17-year-old boy who developed recurrent seizures, mental retardation and extensive brain calcinosis related to delayed diagnosis of hypoparathyroidism. Hypoparathyroidism can be easily missed in children and adolescents, and may lead to irreversible neurologic sequelae. This case highlights the need to consider hypocalcemia in any patient with uncontrolled seizures. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

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

    2017-12-01

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

  9. 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.

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

    Science.gov (United States)

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

    2009-01-01

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

  11. 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…

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

    Science.gov (United States)

    Everington, Caroline; Luckasson, Ruth

    1989-01-01

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

  13. "Me? I'm not a drooler. I'm the Assistant": Is It Time To Abandon Mental Retardation as a Classification?.

    Science.gov (United States)

    Smith, J. David; Mitchell, Alison L.

    2001-01-01

    This article uses a short story by Jack London to discuss the classification of individuals with mental retardation and argues that mental retardation and its various definitions are manifestations of the typological thinking that inevitably creates a simplistic and misleading aggregation of people with very diverse needs and characteristics.…

  14. 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.

  15. 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.

  16. References to people in the communications of female and male youths with mental retardation.

    Science.gov (United States)

    Wilkinson, K M; Murphy, N A

    1998-01-01

    Gender-related differences have consistently been reported in the language of adults and children with no disabilities. One well-replicated finding is that females discuss people and relationships more often than do males, particularly in conversations with other females. These stylistic variations in language are considered to have implications for the adaptive functioning of language users, most particularly females. Although studied thus far only in nondisabled individuals, such issues of language style use may be of equal or greater concern for those with mental retardation. How does a cognitive impairment intensify or reduce gender-linked language styles and their effects? Language transcripts were obtained from eight male and eight female participants with retardation, interacting separately with one male and one female adult partner. Half of the participants used speech as their primary mode of communication: the others relied on vocalization, gesture, or augmented modes. Participants using speech showed gender-linked language patterns similar to nondisabled individuals, with females discussing people significantly more often than males. Females using nonspeech modes, in contrast, showed a severe reduction in person-referencing that was not accountable by their expressive speech limitations.

  17. 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.

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

    Directory of Open Access Journals (Sweden)

    Isabelle Plante

    2006-01-01

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

  19. A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation.

    Science.gov (United States)

    Najafi, Reza; Mostofizadeh, Neda; Hashemipour, Mahin

    2018-01-01

    Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures. Two months later, she was admitted again with status epilepticus. Laboratory data showed increased level of tyrosine in the blood. She was treated with a diet low in tyrosine and phenylalanine and anamix formula that leading to catch-up growth and improvement of her symptoms. Plasma tyrosine level dropped to normal values. In any child who presents with the neurologic symptom, some rare diagnosis like tyrosinemia type III should be considered.

  20. Cerebral perfusion abnormalities in therapy-resistant epilepsy in mentally retarded pediatric patients

    International Nuclear Information System (INIS)

    Abdel-Dayem, H.M.; Nawaz, K.; Hassoon, M.; Rahman, M.; Olofsson, O.E.

    1990-01-01

    This paper identifies sites of cerebral perfusion abnormalities in therapy-resistant epilepsy in mentally retarded pediatric patients (TREMRPP) using Tc-99m HMPAO and to compare it with the results of electroencephalography (EEG) and fluorographic CT. Thirteen children underwent Tc-99m HMPAO single photon emission CT (SPECT) studies; 11 had fluorographic CT, and 12 had EEG (four had EEG twice). All studies for same patients were within 2 weeks of each other. SPECT studies were reviewed twice by two nuclear medicine physicians without any knowledge of the results of other tests. Fluorographic CT results showed cerebral atrophy in only three and were normal in eight. EEG results were abnormal in all 12 patients examined. Epileptogenic spikes (EPS) were seen in eight patients only. Tc-99m HMPAO SPECT studies were abnormal in all patients; they showed 21 foci of decreased perfusion on nine patients and nine foci of increased perfusion in seven patients (three patients had mixed lesions)

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

    Science.gov (United States)

    Tarpey, Patrick S; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P M; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E; Srivastava, Anand K; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E; Gecz, Jozef; Raymond, F Lucy; Futreal, P Andrew; Stratton, Michael R

    2010-01-01

    Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence. PMID:19377476

  2. 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.

  3. 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.

  4. Psychological distress among parents of children with mental retardation in the United Arab Emirates.

    Science.gov (United States)

    Khamis, Vivian

    2007-02-01

    This study was designed to identify predictors of parental stress and psychological distress among parents of children with mental retardation in the United Arab Emirates. It examined the relative contributions of child characteristics, parents' sociodemographics, and family environment to parental stress and psychological distress. Participants were parents of 225 mentally retarded children, of whom 113 were fathers and 112 were mothers. Measures of parental stress (QRS-F), psychiatric symptom index (PSI) and family environment scale (FES) were administered in an interview format. Hierarchical multiple regression was used to predict parental stress and psychological distress. The results indicate that the model containing all three predictor blocks, child characteristics, parents' sociodemographics, and family environment, accounted for 36.3% and 22.5% of parental stress and parents' psychiatric symptomatology variance, respectively. The age of the child was significantly associated with parents' feelings of distress and psychiatric symptom status, and parental stress was less when the child was older. Parents reported more psychiatric symptomatology when the child showed a high level of dysfunction. Fathers' work appeared to be a significant predictor of parental stress, indicating that for fathers who were not working the level of stress was higher than fathers who were working. Lower socioeconomic level was associated with greater symptom rates of cognitive disturbance, depression, anxiety, and despair among parents. Among the family environment variables, only the personal growth dimension stood out as a predictor of parental stress. An orientation toward recreational and religious pursuits, high independence, and intellectual and recreational orientations were associated with lower levels of parental stress. On the other hand, parents in achievement-oriented families showed elevated levels of parental stress. Implications for prevention, and intervention as

  5. 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…

  6. 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.)…

  7. Social Competence and Social Skills Training for Persons with Mental Retardation: An Expansion of a Behavioral Paradigm.

    Science.gov (United States)

    Gumpel, Tom

    1994-01-01

    Social skills training practices for persons with mental retardation are summarized, along with reasons for their lack of maintenance and generalization. A cognitive-behavioral definition and model of social competence and social skills are described, which unify social learning concepts with recent research and practice and focus on their utility…

  8. States' Eligibility Guidelines for Mental Retardation: An Update and Consideration of Part Scores and Unreliability of IQs

    Science.gov (United States)

    Bergeron, Renee; Floyd, Randy G.; Shands, Elizabeth I.

    2008-01-01

    Mental retardation (MR) has traditionally been defined as a disorder in intellectual and adaptive functioning beginning in the developmental period. Guided by a federal definition of MR described in the Individuals with Disabilities Education Act, it is the responsibility of each of the United States to describe eligibility guidelines for special…

  9. Sources of Job Stress and Job Satisfaction Reported by Direct-Care Staff of Large Residential Mental Retardation Facilities.

    Science.gov (United States)

    Buckhalt, Joseph A.; And Others

    1990-01-01

    An instrument measuring ratings of sources of job stress and satisfaction resulting from characteristics of residents and work conditions was completed by 136 direct-care staff members in 4 regional state mental retardation facilities. Differences by facility were noted. The instrument offers some unique information appropriate for studies of job…

  10. Treatment of Chronic Breath-Holding in an Adult with Severe Mental Retardation: A Clinical Case Study

    Science.gov (United States)

    Reed, Derek D.; Martens, Brian K.

    2008-01-01

    We describe a clinical case study surrounding the behavioral assessment and operant treatment of, an adult with severe mental retardation who engaged in chronic breath-holding. In this clinical case, previous neurological and medical testing had ruled out biological bases for the individual's breath-holding. A functional behavioral assessment…

  11. 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

  12. 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…

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

    Science.gov (United States)

    Yanagisawa, S.; Hiraoka, K.

    1971-01-01

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

  14. 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.

  15. 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.

  16. 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)

  17. Delayed Identity Matching to Complex Samples: Teaching Students with Mental Retardation Spelling and the Prerequisites for Equivalence Classes.

    Science.gov (United States)

    Stromer, Robert; Mackay, Harry A.

    1993-01-01

    Two students with moderate to severe mental retardation learned delayed matching to sample in which some of the trials involved complex sample stimuli, each consisting of a picture and a printed word. Matching to either the preceding picture or printed word sample was reinforced. Evidence for the formation of equivalence classes was observed.…

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

    International Nuclear Information System (INIS)

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

    2011-01-01

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

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

    Science.gov (United States)

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

    2010-01-01

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

  20. 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...

  1. 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

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

    Science.gov (United States)

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

    2005-01-01

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

  3. Review of the Role of Two Antilibidinal Drugs in the Treatment of Sex Offenders with Mental Retardation.

    Science.gov (United States)

    Cooper, A. J.

    1995-01-01

    This paper reviews the efficacy, cautions, side effects, and modes of action of two antiandrogens (medroxyprogesterone acetate and cyproterone acetate) in treating individuals with mental retardation who have engaged in offensive sexual behavior. Ethical and medico-legal issues are also discussed. (Author/JDD)

  4. 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…

  5. 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...

  6. 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…

  7. 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…

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

    Science.gov (United States)

    Facon, Bruno; Sahiri, Safia; Riviere, Vinca

    2008-01-01

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

  9. 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

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  12. 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.

  13. 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 mental retardation. The number of years in school was also another statistically significant factor (p sports activities was a significant factor responsible for improving the functioning of children with mild to moderate mental retardation.

  14. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

    Science.gov (United States)

    Feng, Aiping; Dai, Xiaohua; Wang, Xiaoran; Gao, Yong; Luo, Ruili; Li, Yulei; Zhang, Na; Liu, Jingyu

    2011-08-01

    Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age. Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy, clinical features of mental retardation and mild facial and pinkie anomalies. In the family 1, we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis. Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171, an interval of about 2.9 Mb on 9p21.3, and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446, a region of about 1.5 Mb on 21q22.3. In the family 2, a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter, and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother. Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33. Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family. These results further implicate that trisomy 9p is associated with mental retardation, and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly. This result has been applied successfully in prenatal diagnosis of the second family.

  15. A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta.

    Science.gov (United States)

    Dane, Cem; Karaca, Aysegul; Karaca, Ender; Dane, Banu

    2013-02-01

    46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue. Here we report a case of a 17-year-old with clinical features of 46,XY complete gonadal dysgenesis including external female genitalia, hypoplastic uterus, hypergonadotrophic hypogonadism, incomplete secondary sex characterics, primary amenorrhea, and normal male karyotype. In addition, she had mild mental retardation, severe rotoscoliosis, pectus excavatus, spina bifida occulta, hip dislocation, and long, slender extremities. She had a rudimentary uterus and streak gonads; after giving her cyclic estrogen and progesterone pills, she was able to menstruate. In this report, a Swyer syndrome case was discussed regarding clinical features, especially those are not characteristic for Swyer syndrome after a review of the literature. Copyright © 2013 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  16. Some Thoughts on Counseling Parents of the Mentally Retarded. Final Report.

    Science.gov (United States)

    Phelps, William R.

    Discussed are techniques in counseling parents of retarded children. Suggested are ways to structure the interview as well as methods to help the parents deal with such problems as overprotection and initial reactions to the diagnosis of retardation. (CL)

  17. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

    Energy Technology Data Exchange (ETDEWEB)

    Arena, J.F.; Lubs, H. [Univ. of Miami School of Medicine, Miami, FL (United States); Schwartz, C. [Greenwood Genetic Center, SC (United States)] [and others

    1996-07-12

    We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson (MINI 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft palate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3{prime} end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome. 22 refs., 6 figs., 2 tabs.

  18. 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.

  19. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

    NARCIS (Netherlands)

    Slavotinek, A. M.; Searby, C.; Al-Gazali, L.; Hennekam, R. C. M.; Schrander-Stumpel, C.; Orcana-Losa, M.; Pardo-Reoyo, S.; Cantani, A.; Kumar, D.; Capellini, Q.; Neri, G.; Zackai, E.; Biesecker, L. G.

    2002-01-01

    McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies. Bardet-Biedl syndrome is genetically heterogeneous with

  20. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). : Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

    NARCIS (Netherlands)

    M. Goeteyn (M.); A.P. Oranje (Arnold); V.D. Vuzevski (Vojislav); R. de Groot (Ronald); L.W.A. van Suijlekom-Smit (Lisette)

    1991-01-01

    textabstractThe Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe

  1. Rubinstein-Taybi syndrome

    African Journals Online (AJOL)

    congenital anomalies/mental retardation syndrome', are a characteristic facies, broad thumbs and great toes, stunted stature and mental retardation. Following the initial documentation by Rubinstein and Taybi (1963),[1] the condition that bears their names has been extensively reviewed by Hennekam et al.[2] and Stevens.

  2. Effects of Special Olympics International on social competence in persons with mental retardation.

    Science.gov (United States)

    Dykens, E M; Cohen, D J

    1996-02-01

    To evaluate the social and emotional goals of Special Olympics International, specifically whether Special Olympics facilitates social competence and self-esteem in persons with mental retardation. Findings were "triangulated" across three studies on the social competence, adaptation, and self-perceptions of 104 athletes from 1993 Team USA (mean age = 22 years; mean IQ = 59). Study 1 related behavior to athletes' length of time in Special Olympics. Study 2 compared Team USA to an appropriately matched group of non-Special Olympians. Study 3 assessed Team USA before and 4 months after their participation in the World Games held in Salzburg, Austria. Relative to age and IQ, length of time in Special Olympics was the most powerful predictor of social competence. Special Olympics athletes had higher social competence scores and more positive self-perceptions than the comparison group. Team USA's behavioral data remained stable over time, suggesting that high pre-Game scores were not simply a function of parental or athlete pre-Game excitement. Based on the most conservative meaning of triangulation, more support was found linking Special Olympics to social competence than to remaining behavioral domains.

  3. 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 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 training.

  4. MRI in spastic cerebral palsy - correlations with motor development and mental retardation

    International Nuclear Information System (INIS)

    Kulal, W.; Sobaniec, W.; Kubas, B.

    2004-01-01

    The introduction of magnetic resonance (MR) has improved our understanding of the pathophysiology and early diagnosis of cerebral palsy (CP). The aim of this study was to evaluate types of lesions on MR in children with CP in correlations with motor development, cognitive impairment and risk factors. Twenty-two children aged 4-17 years (boys 12, girls 10) with CP diplegia - 16 and tetraplegia - 6 were studied. Routine MR images were performed in all children. Results: All patients had periventricular leukomalacia (PVL) in MR findings. In addition three different degrees of MRI lesion patterns were defined: a mild pattern (nucleus lentiformis and thalamus) moderate (nucleus lentiformis, thalamus and pericentral region)and a severe pattern (nucleus lentiformis , thalamus, pericentral region and hippocampus). Significant correlations of the MR findings with the motor development and mental retardation were found. No significant relationships between the MR findings and the etiological factors (prematurity, low birthweight, Apgar score, sepsis, seizures, pre-eclamsia , and gestational age) were noted. MR imaging is useful in the evaluation structural abnormalities in the brains in the children with spastic diplegia and tetraplegia. (author)

  5. 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.

  6. Selected factors correlated to athletic performance in adults with mental retardation.

    Science.gov (United States)

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

    2010-04-01

    The aims of this study were to assess the contribution of selected factors to the athletic performance in adults with mental retardation (MR) and to analyze the correlation of each factor with subjects' MR levels. Twenty-nine trained athletes with MR aged 20-45 years were recruited. The fundamental factors included anthropometric measurements, flexibility, muscular strength and endurance, explosive leg power, cardiovascular endurance, and motor coordination. The athletic performances were as follows: 60 m, 300 m, 400 m in walking, standing long jump, and vortex throw (Level I) or 100-m run, shot put, and long jump (Level II). Motor coordination and body weight had significant contributions to 60 m (p jump (p shot put (p jump (p < 0.05). MR level was positively correlated to motor coordination (p < 0.05) and negatively to abdominal muscular strength and endurance (p < 0.05). In conclusion, the results showed the possibility to determine the contributions of selected factors to the athletic performance. This should be addressed in athletics training to help athletes with MR to perform successfully in their competitions.

  7. 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.

  8. Mental retardation occurring in embryo exposed in utero to the atomic bomb (Hiroshima)

    International Nuclear Information System (INIS)

    Ishikawa, Hiroya; Shimasaki, Akira; Fujiwara, Koichi; Harada, Masazumi; Minami, Ryuichi.

    1978-01-01

    This paper deals with a long term follow-up study on psychological symptoms in four patients with microscopically microcephaly induced by prenatal exposed to atomic bomb. They were exposed to atomic bomb at 8- and 12-week-embryos. The distance from the center of the explosion was 780 - 1180 m. All their mothers had acute radiation hazards. Their growths in the uterus were markedly damaged. Postnatal body weight ranged between 1,300 and 2,000 g. They were commonly characterized by microcephaly, physiological and mental retardation, stigmata of degeneracy, and skin symptoms, who were diagnosed as ''microcephaly induced by early prenatal exposure to atomic bomb'' by the research group for microcephaly in the Ministry of Health and Welfare. These common symptoms such as microcephaly, stigmata of degeneracy, and disturbed growth, but neurological symptoms such as motor aphasia were slighter in these patients than in those having congenital Minamata disease prenatal. These results suggested that the prognosis of these patients in whom 30 years have passed is unexpectedly serious. (Namekawa, K.)

  9. SEXUAL EDUCATION IN MENTAL RETARDATION ADOLESCENTS IN THE SCHOLAR AND FAMILY CONTEXTS

    Directory of Open Access Journals (Sweden)

    Diana Estela Pérez-Chávez

    2016-07-01

    Full Text Available The unique expression that sexuality acquires among persons with special educative needs and the necessity that they can be educated to assume a responsible sexual behavior constitutes object of special attention for both society and family. The educational practice has proven that insufficiencies exits in the education of the adolescent with the mental retardation, to which the investigation was aimed at: determine the main needs of the adolescents in this key aspect. To answer the given needs a pedagogical strategy is designed and implemented, aimed at coordinating the action of the professionals of the Special Education and the family, which was validated en the professional practice through a pre- experiment. The following investigation methods were applied: documental analysis, observation, pools and interviews, inventory of youth problems and methodological triangulation, which allowed defining the main issues. By means of the pedagogical strategy, this is structured in four stages: diagnosis, planning, instrumentalization, and assessment, several educative actions aimed at school teacher, familiars and the adolescents were implemented. Among the most important results are a increased preparation among the scholars and the rest of the specialists for the sexual education of their students, the improvement of the educative activity of the family and a positive change in the knowledge, self- perception, attitudes and behavior of the adolescents.

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

    Directory of Open Access Journals (Sweden)

    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

  11. Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

    Directory of Open Access Journals (Sweden)

    Zagorac Andreja

    2011-08-01

    Full Text Available Abstract Background Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3. Discussion To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.

  12. 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.

  13. 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.

  14. Dental caries associated with dietary and toothbrushing habits of 6- to 12-year-old mentally retarded children in Taiwan

    OpenAIRE

    Liu, Hsiu-Yueh; Huang, Shun-Te; Hsuao, Szu-Yu; Chen, Chun-Chih; Hu, Wen-Chia; Yen, Ya-Yin

    2009-01-01

    In this study, we analyzed the influence of dietary factors and toothbrushing habits on dental caries in children with mental retardation (MR). Materials and methods: In total, 168 children with MR, aged 6–12 years, were selected from a large cross-sectional survey entitled “Oral health survey and oral hygiene education for the disabled in Taiwan”, which used a stratified cluster sampling design and probability proportional to size for sampling. Oral examinations were carried out by dentis...

  15. [Klinefelter's syndrome with 48,XXYY (author's transl)].

    Science.gov (United States)

    López Pajares, I; Delicado, A; Barreiro, E; Pascual Castroviejo, I; Nistal, M

    1977-01-01

    This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.

  16. 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.

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

    International Nuclear Information System (INIS)

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

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Leila Ahmadnezhad

    2016-07-01

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

  19. Dilemmas in counselling females with the fragile X syndrome

    NARCIS (Netherlands)

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

    1999-01-01

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

  20. Assessing the Employment-Related Interpersonal Competence of Mildly Mentally Retarded Workers.

    Science.gov (United States)

    Bullis, Michael; Foss, Gilbert

    1986-01-01

    The Test of Interpersonal Competence for Employment (TICE) designed to assess a mildly retarded worker's knowledge of interpersonal skills in the employment setting, was developed based on analysis of problems that mildly retarded workers experience and identification of correct responses to those problems by competitive employers. Initial…

  1. Mental and growth retardation after medulloblastoma radiation therapy. MRI assessment of radiation injuries

    International Nuclear Information System (INIS)

    Miyagi, Koichi; Mukawa, Jiro; Mekaru, Susumu; Harakuni, Tsuyoshi; Yamaguchi, Keiichiro; Tominaga, Daisuke; Nakasone, Susumu.

    1996-01-01

    We report on 3 cases of a medulloblastoma and discuss the usefulness of calculating the T2 value from long-term follow-up MRIs of 1.5 T in order to analyze the cause of mental retardation. Of 13 medulloblastoma patients who were treated at our hospital from 1970 through 1984, 4 patients survived. Excluding 1 of these patients, a 2-year-old child, the remaining 3 cases are discussed. The 3 patients underwent surgery and received postoperative craniospinal irradiation and chemotherapy. The radiation dose (tumoral dose) was 40 to 85 Gy to the posterior fossa, 0 to 30.4 Gy to the spinal cord, and 25.6 to 35.2 Gy to the whole brain. The long-term effects were evaluated by calculating the T2 value and conducting a psychometric analysis from 2 to 11 years after radiation therapy. Their respective Tanaka-Vineland IQ test results were 32, 46, and 102 and their respective growth heights were -3.6 SD, -6.4 SD, and +0.18 SD. Growth hormone deficiencies were identified in all 3 patients. The decline in ability and failure to grow became more pronounced with time. The calculated T2 values showed alterations in the hippocampus, the occipital white matter, and the hypothalamus of all 3 patients. The hippocampal alteration contributed to a decline in intellectual ability and resulted in learning difficulties at school. It should be noted that in addition to whole-brain radiation that was pursued, the focal radiation provided delivers the same radiation dose to the hippocampus as to the tumor. Such a high radiation dose thus might be responsible for the decline in intellectual ability. Therefore, to avoid radiation injury to these areas, stereotactic radiosurgery must be planned for focal radiation therapy. (K.H.)

  2. 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.

  3. The effect of basketball training on the muscle strength of adults with mental retardation.

    Science.gov (United States)

    Tsimaras, Vasilios K; Samara, Christina A; Kotzamanidou, Marianna C; Bassa, Eleni I; Fotiadou, Eleni G; Kotzamanidis, Christos M

    2009-12-01

    The purpose of this study was to evaluate the effect of basketball training on the muscle strength of adults with mental retardation (MR). Twenty-four adults with and without MR were separated into 3 groups. Eight adults (mean age 25.4 years) with normal IQ constituted the control group (NIQ). Eight adults (mean age 26.5 years) with MR and all participating in a 4-year systematic basketball exercise program constituted the trained group (MR-T), and 8 adults (mean age 25.3 years) with MR exercised occasionally for recreational reasons formed the MR-R group. Parameters measured were isometric and isokinetic concentric and eccentric muscle strength. All subjects performed a leg strength test on a Cybex Norm isokinetic dynamometer. Analysis of variance was used to examine mean differences between the values of the 3 groups. A significance level of 0.05 was used for all tests. The NIQ group showed a statistically significant difference in all measured values compared to the MR groups. The MR-T group presented higher absolute and relative torque scores for both knee extensors and flexors than the MR-R group, whereas the MR-R group presented statistically higher antagonistic activity for both knee extensors and flexors than the MR-T group. In addition, both MR groups presented statistically higher antagonistic activity for both knee extensors and flexors compared to the NIQ group. Data support participation on a systematic and well-designed basketball training program to improve muscle strength levels of adults with MR. Participation in basketball without necessarily focusing on developing specific fitness components may be an effective training strategy for the promotion of strength of adults with MR.

  4. Severe mental retardation among the prenatally exposed survivors of the atomic bombing of Hiroshima and Nagasaki

    International Nuclear Information System (INIS)

    Otake, Masanori; Yoshimaru, Hiroshi; Schull, W.J.

    1988-05-01

    In March 1986, as a result of a comprehensive reevaluatioin of the exposures of the survivors of the A-bombing of Hiroshima and Nagasaki, a new method for the estimation of individual doses was introduced, termed the Dosimetry System 1986 (DS86). In the new system they are computed individually without the use generally of explicit, average correction factors and thus allow better for the scattering of radiant energy that occurs within tissues. The comparisons described here rest on the computed dose to the mother's uterus. The DS86 sample itself consists of 1,544 individuals (96.6 %) of the 1,598 belonging to the clinical sample on whom T65DR doses are available. A variety of models with and without a threshold have been fitted to the individual as well as grouped dose data to ascertain the most suitable dose-response relationship. Briefly the findings of this comparison are as follows: The risk of severe mental retardation due to radiation exposure changes little from one dosimetric system to the other. The highest risk of radiation damage to the embryonic and fetal brain occurs 8 - 15 weeks after fertilization under both the T65DR and DS86 systems. Somewhat more evidence exists under the DS86 system of a threshold to the dose-response relationship in the 8 - 15 week interval than existed with the T65DR doses. However, the location and reality of the threshold are difficult to assess. Damage to the fetus 16 - 25 weeks after fertilization seems linear-quadratically or quadratically related to dose, especially in the DS86 sample, and suggests a threshold in the neighborhood of 0.70 Gy (DS86 dose), under a linear model using the individual dose data, with a lower 95 % confidence bound of 0.21 Gy. Grouped dose data give the same lower bound, but an estimate of the threshold of 0.64 Gy. (author)

  5. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients

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    Vijay R Boggula

    2014-01-01

    Full Text Available Background & objectives: Developmental delay (DD/mental retardation also described as intellectual disability (ID, is seen in 1-3 per cent of general population. Diagnosis continues to be a challenge at clinical level. With the advancement of new molecular cytogenetic techniques such as cytogenetic microarray (CMA, multiplex ligation-dependent probe amplification (MLPA techniques, many microdeletion/microduplication syndromes with DD/ID are now delineated. MLPA technique can probe 40-50 genomic regions in a single reaction and is being used for evaluation of cases with DD/ID. In this study we evaluated the clinical utility of MLPA techniques with different probe sets to identify the aetiology of unexplained mental retardation in patients with ID/DD. Methods: A total of 203 randomly selected DD/ID cases with/without malformations were studied. MLPA probe sets for subtelomeric regions (P070/P036 and common microdeletions/microduplications (P245-A2 and X-chromosome (P106 were used. Positive cases with MLPA technique were confirmed using either fluorescence in situ hybridization (FISH or follow up confirmatory MLPA probe sets. Results: The overall detection rate was found to be 9.3 per cent (19 out of 203. The detection rates were 6.9 and 7.4 per cent for common microdeletion/microduplication and subtelomeric probe sets, respectively. No abnormality was detected with probe set for X-linked ID. The subtelomeric abnormalities detected included deletions of 1p36.33, 4p, 5p, 9p, 9q, 13q telomeric regions and duplication of 9pter. The deletions/duplications detected in non telomeric regions include regions for Prader Willi/Angelman regions, Williams syndrome, Smith Magenis syndrome and Velocardiofacial syndrome. Interpretation & conclusions: Our results show that the use of P245-A2 and P070/P036-E1 probes gives good diagnostic yield. Though MLPA cannot probe the whole genome like cytogenetic microarray, due to its ease and relative low cost it is an

  6. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  7. Genetics Home Reference: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

    Science.gov (United States)

    ... deficit syndrome, Say-Barber/Biesecker/Young-Simpson type BMRS SBBYS Ohdo syndrome, Say-Barber-Biesecker variant Ohdo ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

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

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    Seyyed Behnamedin Jame'ei

    2003-01-01

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

  9. Diagnosis and Administrative Interventions for Students with Mental Retardation in Australia, France, United States, and Zimbabwe 98 Years after Binet's First Intelligence Test.

    Science.gov (United States)

    Oakland, Thomas; Mpofu, Elias; Glasgow, Ken; Jumel, Bernard

    2003-01-01

    Summarizes some prevailing policies and practices important to the assessment of mental retardation in Australia, France, the United States, and Zimbabwe. Discusses international standards for diagnosis and classification of mental disorders and cross-national similarities and differences. Also discusses implications for test development. (SLD)

  10. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

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    Wang Liwen

    2010-05-01

    Full Text Available Abstract Background Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR. Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China. Methods This study included 451 Chinese children with moderate to severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent probe amplification and Affymetrix human SNP array 6.0 were used to determine the subtelomeric copy number variations. The exact size and the breakpoint of each identified aberration were well defined. Results The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. The deletions involved 14 different subtelomeric regions (1p, 2p, 4p, 6p, 7p, 7q, 8p, 9p, 10p, 11q, 14q, 15q, 16p and 22q, and duplications involved 7 subtelomeric regions (3q, 4p, 6q, 7p, 8p, 12p and 22q. Of all the subtelomeric aberrations found in Chinese subjects, the most common was 4p16.3 deletion. The sizes of the deletions varied from 0.6 Mb to 12 Mb, with 5-143 genes inside. Duplicated regions were 0.26 Mb to 11 Mb, with 6-202 genes inside. In this study, four deleted subtelomeric regions and one duplicated region were smaller than any other previously reported, specifically the deletions in 11q25, 8p23.3, 7q36.3, 14q32.33, and the duplication in 22q13. Candidate genes inside each region were proposed. Conclusions Submicroscopic subtelomeric aberrations were detected in 5.1% of Chinese children with clinically unexplained DD/MR. Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which

  11. 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.

  12. A Social Attitude Approach to Sex Education for the Educable Mentally Retarded. In-Service Training Materials for Teachers of the Educable Mentally Retarded, Session III.

    Science.gov (United States)

    Meyen, Edward L.; Carr, Donald L.

    Designed for educable mentally handicapped children, these lessons on social attitudes stress sex education and also present broader coverage of information relevant to the development of social skills. The pre-primary unit, for ages 4 to 7, includes lessons on healthy body image, proper toilet habits, male and female roles, sequence of growth,…

  13. Mental Health Problems in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Elison, Sarah; Howlin, Patricia

    2010-01-01

    Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…

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

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    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.

  15. Passwell syndrome

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    Muhammed K

    2003-03-01

    Full Text Available There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.

  16. Comparative Evaluation of Pediatric Patients with Mental Retardation undergoing Dental Treatment under General Anesthesia: A Retrospective Analysis.

    Science.gov (United States)

    Ahuja, Ravish; Jyoti, Bhuvan; Shewale, Vinod; Shetty, Shridhar; Subudhi, Santosh Kumar; Kaur, Manpreet

    2016-08-01

    Behavioral management of patients forms one of the foremost components of pediatric dental treatment. Some children readily cooperate with dental treatment, while others require general anesthesia as a part of treatment protocol for carrying out various dental procedures. Hence, we evaluated the pediatric patients with and without mental retardation, who underwent dental treatment under general anesthesia. The present study analyzed the record of 480 pediatric patients reporting in the department of pedodontics from 2008 to 2014. Analysis of the records of the patients who underwent dental treatment under general anesthesia was done and all the patients were divided into two study groups depending upon their mental level. For the purpose of evaluation, the patients were also grouped according to their age; 4 to 7 years, 8 to 12 years, and 13 to 18 years. Measurement of decayed, missing, and filled teeth and scores for both deciduous and permanent dentition was done before and after the commencement of the dental treatment. Chi-square test and independent t-test were used for evaluating the level of significance. While comparing the patients in the two groups, maximum number of patients is present in the age group of 13 to 18 years. While comparing the indices' score between the two study groups in various age intervals, no statistically significant results were obtained. Restorative treatment and dental extractions were the most common dental treatments that were seen at a higher frequency in the intellectual disability study group. In patients with mental retardation, a higher frequency of restorative treatment and extractions occurs as compared to healthy subjects of similar age group. Therefore, they require special attention regarding maintenance of their oral health. Special attention should be given for maintaining the oral health of patients with special health care needs as compared to their physically and mentally normal counterparts.

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

    Directory of Open Access Journals (Sweden)

    Jasmina IVANOVSKA

    2000-06-01

    Full Text Available PKU is the rare single-gene disease belonging to disturbance of metabolism of the amino acids, which in its own basics halved the mutated gene, whose leaning at the 12-chromosome charge for the synthesis of phenylalanine hydroxylase, turning on phenylalanine into tyrosine. Enzyme block usually leads to the accumulation of a toxic substrate and/or the deficient synthesis of a product needed for normal body function. In PKU there is a toxic accumulation of phenylalanine behind the deficient enzyme, phenylalanine hydrоxylase. The symptoms are: lighten hare, blue eyes, lithe pigmented skin, convulsion, mental retardation, low level of adrenalin caused for the lack of tyrosine, the urine have a specific smell of rats or gab.Inheritance of disease become in autosomal recessive way which always become possibility to stay hidden in the family and to inherit from knee to knee without manifestation of its own phenotype.The only therapy that successfully avoids the causes of this disease is phenylalanine-restricted diet. Today we have some affords for improvement of gene therapy, which can help us for determination to these disease. The success of the therapy depends from timing of the right detection also diagnostics all trough equivalent therapy which can successfully interrupt the new forms of mental retardation and other symptoms.

  20. 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.

  1. Hyperconnectivity and slow synapses during early development of medial prefrontal cortex in a mouse model for mental retardation and autism.

    Science.gov (United States)

    Testa-Silva, Guilherme; Loebel, Alex; Giugliano, Michele; de Kock, Christiaan P J; Mansvelder, Huibert D; Meredith, Rhiannon M

    2012-06-01

    Neuronal theories of neurodevelopmental disorders (NDDs) of autism and mental retardation propose that abnormal connectivity underlies deficits in attentional processing. We tested this theory by studying unitary synaptic connections between layer 5 pyramidal neurons within medial prefrontal cortex (mPFC) networks in the Fmr1-KO mouse model for mental retardation and autism. In line with predictions from neurocognitive theory, we found that neighboring pyramidal neurons were hyperconnected during a critical period in early mPFC development. Surprisingly, excitatory synaptic connections between Fmr1-KO pyramidal neurons were significantly slower and failed to recover from short-term depression as quickly as wild type (WT) synapses. By 4-5 weeks of mPFC development, connectivity rates were identical for both KO and WT pyramidal neurons and synapse dynamics changed from depressing to facilitating responses with similar properties in both groups. We propose that the early alteration in connectivity and synaptic recovery are tightly linked: using a network model, we show that slower synapses are essential to counterbalance hyperconnectivity in order to maintain a dynamic range of excitatory activity. However, the slow synaptic time constants induce decreased responsiveness to low-frequency stimulation, which may explain deficits in integration and early information processing in attentional neuronal networks in NDDs.

  2. 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

  3. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    Science.gov (United States)

    Moretti, Paolo; Peters, Sarika U.; del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J.; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin; Bacino, Carlos A.; Scaglia, Fernando

    2008-01-01

    We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects…

  4. A System for Planning and Achieving Comprehensive Health Care in Residential Institutions for the Mentally Retarded.

    Science.gov (United States)

    Decker, Harold A.

    Based on a view of health care intertwining medicine intimately with other components of institutional care, the monograph presents a system of concepts and operating techniques for providing comprehensive health care to institutionalized retardates. Background of the system is explained in terms of its research basis (two studies by the author of…

  5. Stability of territorial and aggressive behavior in profoundly mentally retarded institutionalized male adults.

    Science.gov (United States)

    Rago, W V

    1978-03-01

    Previous research has documented that institutionalized profoundly retarded male adults are territorial and aggresive. The present study represents a follow-up on the same group of males. Results demonstrated that the behavior initially observed remained highly stable across the 19 months since the previous study.

  6. Elsahy-Waters Syndrome: Evidence for Autosomal Recessive Inheritance

    NARCIS (Netherlands)

    Castori, Marco; Cascone, Piero; Valiante, Michele; Laino, Luigi; Iannetti, Giorgio; Hennekam, Raoul C. M.; Grammatico, Paola

    2010-01-01

    Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism/telechantus, broad nose, concave nasal ridge,

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

    Science.gov (United States)

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

    2017-08-02

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

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

    Science.gov (United States)

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

    2010-03-01

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

  9. 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

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

    NARCIS (Netherlands)

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

    2005-01-01

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

  11. Study of health status and etiological factors of mentally challenged ...

    African Journals Online (AJOL)

    6.89%). In 70.68% children no clinical syndrome was associated with mental retardation. 60.35% children were offspring of consanguineous marriages. In 63.8% children the causes for mental retardation were idiopathic, and genetic causes ...

  12. Music and Anxiety in Williams Syndrome: A Harmonious or Discordant Relationship?

    Science.gov (United States)

    Dykens, Elisabeth M.; Rosner, Beth A.; Ly, Tran; Sagun, Jaclyn

    2005-01-01

    In this two-part study, we assessed musical involvements in two samples of persons with Williams syndrome compared to others with mental retardation and also related musicality to anxiety and fears in Study 2. Relative to others with mental retardation, those with Williams syndrome were more likely to take music lessons, play an instrument, and…

  13. Food Preferences among Individuals with and without Prader-Willi Syndrome.

    Science.gov (United States)

    Glover, Dorothy; And Others

    1996-01-01

    A study of 41 adults with mental retardation (11 with Prader-Willi syndrome and 30 with mental retardation due to other causes--13 overweight and 17 with normal weight) sought to determine differences in food preferences. While controls selected sweet food over larger quantities of unpreferred food, individuals with Prader-Willi syndrome selected…

  14. Comparison of word-supply and word-analysis error-correction procedures on oral reading by mentally retarded children.

    Science.gov (United States)

    Singh, J; Singh, N N

    1985-07-01

    An alternating treatments design was used to measure the differential effects of two error-correction procedures (word supply and word analysis) and a no-training control condition on the number of oral-reading errors made by four moderately mentally retarded children. Results showed that when compared to the no-training control condition, both error-correction procedures greatly reduced the number of oral-reading errors of all subjects. The word-analysis method, however, was significantly more effective than was word supply. In terms of collateral behavior, the number of self-corrections of errors increased under both intervention conditions when compared to the baseline and no-training control conditions. For 2 subjects there was no difference in the rate of self-corrections under word analysis and word supply but for the other 2, a greater rate was achieved under word analysis.

  15. Proposal of math activities to develop the process of teaching-learning in schoolchildren with severe mental retard

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

  17. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

    Science.gov (United States)

    Puusepp, H; Kall, K; Salomons, G S; Talvik, I; Männamaa, M; Rein, R; Jakobs, C; Õunap, K

    2010-12-01

    The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild mental retardation (MR) and attention deficit disorder), but patient 2 had all typical clinical signs of SLC6A8 defect such as moderate MR, autistic features, expressive dysphasia and epilepsy. Among our patients, we saw significant problems in speech and language development combined with attention and behavioural difficulties. The number of false-positive biochemical results with increased urinary Cr:Crn ratio was higher (18%) in our study than in previous reports (1.8–10%). We therefore suggest that repeated biochemical testing should be performed before DNA sequencing analysis. Our study suggests that 2% (95% confidence limits: 0.05–11.1%) of this Estonian XLMR panel are due to mutations in the SLC6A8, which is similar to the prevalence reported in other populations. We therefore conclude that creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar MR and diagnostic screening of them should always include screening for SLC6A8 deficiency.

  18. The Impact of Modified Multi-Component Cognitive Strategy Instruction in the Acquisition of Metacognitive Strategy Knowledge in the Text Comprehension Process of Students with Mental Retardation

    Science.gov (United States)

    Doganay Bilgi, Arzu; Ozmen, E. Ruya

    2014-01-01

    The purpose of this study was to determine the impact of Modified Multi-component Cognitive Strategy Instruction on the metacognitive strategy knowledge used for the comprehension process of descriptive texts for students with mild mental retardation (MMR). Three students with MMR from inclusive classes participated in the study. The study was…

  19. ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

    NARCIS (Netherlands)

    Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Reeuwijk, J. van; Nabuurs, S.B.; Vries, L.B.A. de; Hamel, B.C.J.; Brouwer, A.P.M. de; Bokhoven, J.H.L.M. van

    2006-01-01

    Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked

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

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Koushesh

    2007-01-01

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