mental retardation

Summary

Summary: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)

Top Publications

  1. ncbi Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
    Yolande van Bever
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Med Genet A 135:91-5. 2005
  2. ncbi A de novo paradigm for mental retardation
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 42:1109-12. 2010
  3. pmc CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 85:655-66. 2009
  4. ncbi Dendritic anomalies in disorders associated with mental retardation
    W E Kaufmann
    Departments of Pathology, Neurology, Pediatrics, and Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
    Cereb Cortex 10:981-91. 2000
  5. pmc Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    Audrey Guilmatre
    Institut National de la Sante et de la Recherche Medicale, Unité 614, Institut hospitalo universitaire de recherche biomédicale, 76000 Rouen, France
    Arch Gen Psychiatry 66:947-56. 2009
  6. ncbi Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
  7. ncbi Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    Michael J Friez
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Pediatrics 118:e1687-95. 2006
  8. ncbi Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
    Hum Mol Genet 12:2853-61. 2003
  9. pmc Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties
    Mikiko C Siomi
    Institute for Genome Research, University of Tokushima, Kuramoto, Tokushima 770 8503, Japan
    Mol Cell Biol 22:8438-47. 2002
  10. ncbi Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    Simone Berkel
    Department of Molecular Human Genetics, Ruprecht Karls University, Heidelberg, Germany
    Nat Genet 42:489-91. 2010

Detail Information

Publications304 found, 100 shown here

  1. ncbi Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
    Yolande van Bever
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Med Genet A 135:91-5. 2005
    ..rare cases reported previously provides further evidence for a specific phenotype of 1q patients, including mental retardation, growth retardation, sometimes with prenatal onset, progressive microcephaly, seizures, hand and foot ..
  2. ncbi A de novo paradigm for mental retardation
    Lisenka E L M Vissers
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 42:1109-12. 2010
    ..based exome sequencing approach to test this de novo mutation hypothesis in ten individuals with unexplained mental retardation. We identified and validated unique non-synonymous de novo mutations in nine genes...
  3. pmc CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 85:655-66. 2009
    ..via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically ..
  4. ncbi Dendritic anomalies in disorders associated with mental retardation
    W E Kaufmann
    Departments of Pathology, Neurology, Pediatrics, and Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
    Cereb Cortex 10:981-91. 2000
    Dendritic abnormalities are the most consistent anatomical correlates of mental retardation (MR)...
  5. pmc Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    Audrey Guilmatre
    Institut National de la Sante et de la Recherche Medicale, Unité 614, Institut hospitalo universitaire de recherche biomédicale, 76000 Rouen, France
    Arch Gen Psychiatry 66:947-56. 2009
    Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrum disorders, and schizophrenia.
  6. ncbi Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
    The underlying cause of mental retardation remains unknown in up to 80% of patients...
  7. ncbi Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    Michael J Friez
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Pediatrics 118:e1687-95. 2006
    ..the neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently includes the ..
  8. ncbi Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
    Hum Mol Genet 12:2853-61. 2003
    ..We studied 36 patients with muscular dystrophy and either mental retardation, structural brain changes or abnormal alpha-dystroglycan immunolabelling, unlinked to any reported CMD loci...
  9. pmc Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties
    Mikiko C Siomi
    Institute for Genome Research, University of Tokushima, Kuramoto, Tokushima 770 8503, Japan
    Mol Cell Biol 22:8438-47. 2002
    ..These studies support the model that the biological functions of FMR1, such as regulation of gene expression, are likely regulated by its phosphorylation...
  10. ncbi Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    Simone Berkel
    Department of Molecular Human Genetics, Ruprecht Karls University, Heidelberg, Germany
    Nat Genet 42:489-91. 2010
    ..in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 ..
  11. pmc Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
    Fadi F Hamdan
    Centre Hospitalier Universitaire Sainte Justine Research Center, Centre of Excellence in Neuromics, Universite de Montreal, QC, Canada
    N Engl J Med 360:599-605. 2009
    Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown...
  12. pmc Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
    Ortal Barel
    The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva 84105, Israel
    Am J Hum Genet 83:193-9. 2008
    We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to approximately 7...
  13. pmc Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
    Stephen R Williams
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Am J Hum Genet 87:219-28. 2010
    Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37...
  14. ncbi Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
    Hum Genet 121:501-9. 2007
    ..2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders...
  15. ncbi Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C
    Beata A Nowakowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet B Neuropsychiatr Genet 153:1042-51. 2010
    ..These deletions further support that haploinsufficiency of MEF2C is responsible for severe mental retardation, seizures, and hypotonia...
  16. ncbi Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
    Peter M Krawitz
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 42:827-9. 2010
    Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase...
  17. ncbi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians caring for such patients...
  18. ncbi A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
    H G Yntema
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 62:332-43. 1999
    ..in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), mental retardation (MRX), and choroideremia (CHM)...
  19. ncbi Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
    Frederic Laumonnier
    INSERM U619 Génétique de l autisme et des déficiences mentales, Laboratoire de génétique chromosomique, CHR La Source BP86709 45067 Orléans cedex 2, France
    Am J Psychiatry 163:1622-9. 2006
    ..In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation.
  20. ncbi Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
    William T Gibson
    Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada
    Am J Med Genet A 146:225-32. 2008
    ..The presence of HbH bodies and her clinical presentation raised suspicion for autosomal alpha-thalassemia mental retardation syndrome (ATR-16)...
  21. ncbi De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
    Fadi F Hamdan
    Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte Justine Research Center, Universite de Montreal, Montreal, Quebec, Canada
    Ann Neurol 65:748-53. 2009
    ..proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c...
  22. ncbi The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre
    Rajesh P Menon
    National Institute for Medical Research, London NW7 1AA, UK
    J Mol Biol 343:43-53. 2004
    Absence of the fragile X mental retardation protein (FMRP) causes fragile X syndrome, the most common form of hereditary mental retardation...
  23. ncbi Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
    Eleni Katzaki
    Medical Genetics, University of Siena, Siena, Italy
    Am J Med Genet A 152:1711-7. 2010
    ..the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute ..
  24. ncbi The renaming of mental retardation: understanding the change to the term intellectual disability
    Robert L Schalock
    Hastings College, Hastings, Nebraska, USA
    Intellect Dev Disabil 45:116-24. 2007
  25. pmc Altered synaptic plasticity in a mouse model of fragile X mental retardation
    Kimberly M Huber
    Department of Neuroscience, Howard Hughes Medical Institute, Brown University, Providence, RI 02912, USA
    Proc Natl Acad Sci U S A 99:7746-50. 2002
    Fragile X syndrome, the most common inherited form of human mental retardation, is caused by mutations of the Fmr1 gene that encodes the fragile X mental retardation protein (FMRP)...
  26. ncbi De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation
    Milen Velinov
    Department of Human Genetics, NYS Institute for Basic Research, in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
    Clin Dysmorphol 18:9-12. 2009
    Distal Xq disomy in males results in characteristic phenotypes that typically include mental retardation, microcephaly, prominent hypotonia and hypogonadism...
  27. ncbi Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
    Lisenka E L M Vissers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 47:289-97. 2010
    ..Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital malformations...
  28. ncbi The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Jeroen van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:453-9. 2006
    ..result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly, and mental retardation. Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities ..
  29. ncbi Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
    Ilaria Bertani
    Dipartimento di Biologia Strutturale e Funzionale, Universita dell Insubria, 21052 Busto Arsizio VA, Italy
    J Biol Chem 281:32048-56. 2006
    ..and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. Disease-causing mutations are distributed in both the catalytic domain and in the large COOH terminus...
  30. pmc Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
    Florence Molinari
    Laboratoire de génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement INSERM U781, Universite Paris Descartes, Hopital Necker Enfants Malades, F 75015 Paris, France
    Am J Hum Genet 82:1150-7. 2008
    b>Mental retardation (MR) is the most frequent handicap among children and young adults...
  31. pmc Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Matthew A Deardorff
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Am J Hum Genet 80:485-94. 2007
    ..2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation.
  32. ncbi A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
    R Borgatti
    Divisione di Neuroriabilitazione 1, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
    Neurology 63:57-65. 2004
    ..This current limits neuronal hyperexcitability by causing spike-frequency adaptation...
  33. ncbi Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome
    Lena Niklasson
    Child Neuropsychiatry Clinic, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Res Dev Disabil 30:763-73. 2009
    ..In nine of these cases with ASD or ADHD there was a combination of these diagnoses. Mental retardation (MR) with or without ASD/ADHD was diagnosed in 51 individuals. ASD, ADHD, and/or MR were present in 67 cases...
  34. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
    ..None of the families had mental retardation, but affected family members had the Williams Syndrome Cognitive Profile (WSCP)...
  35. pmc Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Christiane Zweier
    Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:994-1001. 2007
    Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation...
  36. ncbi Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
    Pascale Saugier-Veber
    Department of Genetics, Rouen University Hospital, Rouen, France
    Eur J Hum Genet 14:1009-17. 2006
    ..Multiplex PCR of Short fluorescent Fragments) able to explore simultaneously 12 candidate loci involved in mental retardation (MR) and known to be the target of genomic rearrangements...
  37. ncbi Brain dystrophin, neurogenetics and mental retardation
    M F Mehler
    Departments of Neurology, Neuroscience and Psychiatry, the Einstein Comprehensive Cancer Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Brain Res Brain Res Rev 32:277-307. 2000
    ..In DMD/BMD, the individual profiles of cognitive and behavioral deficits, mental retardation and other phenotypic variations appear to depend on complex profiles of transcriptional regulation ..
  38. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  39. ncbi A novel mutation in JARID1C gene associated with mental retardation
    Cristina Santos
    Genetics Service, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain
    Eur J Hum Genet 14:583-6. 2006
    X-linked mental retardation (XLMR) is an extremely heterogeneous condition that account for 15-25% of all mentally retarded patients...
  40. pmc Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome
    Tom Van de Putte
    Department of Developmental Biology, Flanders Interuniversity Institute for Biotechnology, and Laboratory of Molecular Biology Celgen, University of Leuven, Leuven, Belgium
    Am J Hum Genet 72:465-70. 2003
    ..protein-1 (SIP1), were found to be implicated in the etiology of a dominant form of Hirschsprung disease-mental retardation syndrome in humans...
  41. pmc Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, United Kingdom
    Am J Hum Genet 76:717-28. 2005
    ..It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. The microcephaly is the consequence of a small but architecturally normal brain, and it is the cerebral ..
  42. ncbi PAK3 mutation in nonsyndromic X-linked mental retardation
    K M Allen
    Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 20:25-30. 1998
    Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders, whose genetic bases are largely unknown...
  43. ncbi Beating the barriers: recruitment of people with intellectual disability to participate in research
    N Lennox
    Queensland Centre for Intellectual and Developmental Disability, School of Population Health, Faculty of Health Sciences, The University of Queensland, Mater Hospital, South Brisbane, Queensland, 4101 Australia
    J Intellect Disabil Res 49:296-305. 2005
    ..There are several barriers to performing this research. The aim of our research was to examine the significant barriers encountered in recruiting adults with ID to participate in research...
  44. ncbi A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
    A Carrie
    INSERM Unité 129 ICGM, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Nat Genet 23:25-31. 1999
    ..enabled us to identify a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation. This gene encodes a 696 amino acid protein that has homology to IL-1 receptor accessory proteins...
  45. ncbi Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation
    Julie A Osterling
    Center on Human Development and Disability, University of Washington, Seattle 98195, USA
    Dev Psychopathol 14:239-51. 2002
    ..The present study addresses the question of whether autism can be distinguished from mental retardation by 1 year of age...
  46. ncbi Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
    The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14...
  47. pmc CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
    Arijit Mukhopadhyay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Hum Genet 128:281-91. 2010
    Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity...
  48. ncbi Healthy behavior change of adults with mental retardation: attendance in a health promotion program
    Joshua Mann
    University of South Carolina School of Medicine, USA
    Am J Ment Retard 111:62-73. 2006
    Participation in a health promotion program for 192 overweight and obese adults with mental retardation was associated with behavior change resulting in reduction of body mass index-BMI (weight in kg, divided by height in meters, squared) ..
  49. pmc Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37
    L C Wilson
    Department of Genetics, University of Leicester, United Kingdom
    Am J Hum Genet 56:400-7. 1995
    We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO). Four patients had cytogenetically visible de novo deletions of chromosome 2q37...
  50. ncbi Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH
    R Caselli
    Medical Genetics, Department of Molecular Biology, University of Siena, Policlinico Le Scotte, V Le Bracci 2, 53100, Siena, Italy
    J Hum Genet 52:535-42. 2007
    ..without a peculiar facial phenotype may have a different deletion syndrome or a casual association of mental retardation and retinoblastoma...
  51. ncbi Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation
    S Ranta
    Folkhalsan Institute of Genetics, and Department of Medical Genetics, University of Helsinki, Finland
    Eur J Hum Genet 8:381-4. 2000
    In search of the gene for progressive epilepsy with mental retardation (EPMR) we identified DLGAP2, the human homolog of the gene encoding the rat PSD-95/SAP90-associated protein-2 (Dlgap2)...
  52. ncbi "I'd rather watch TV": an examination of physical activity in adults with mental retardation
    Georgia C Frey
    Department of Kinesiology, HPER 179, Indiana University, Bloomington, IN 47405, USA
    Ment Retard 43:241-54. 2005
    ..was used as a framework to examine perceptions of physical activity behavior of 12 adults with mild mental retardation. Four parents and two job supervisors also agreed to participate...
  53. ncbi Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome
    A K Shetty
    Department of Pediatrics, Louisiana State University Medical Center and Children s Hospital, New Orleans, USA
    J Child Neurol 15:61-3. 2000
    ..This unique combination of clinical manifestations appears to constitute a "new syndrome." We speculate that this association may represent a contiguous gene syndrome...
  54. ncbi Biology of the fragile X mental retardation protein, an RNA-binding protein
    E W Khandjian
    Département de Biologie médicale, Faculte de Medecine, Universite Laval, Quebec, QC, Canada
    Biochem Cell Biol 77:331-42. 1999
    The fragile X syndrome, an X-linked disease, is the most frequent cause of inherited mental retardation. The syndrome results from the absence of expression of the FMR1 gene (fragile mental retardation 1) owing to the expansion of a CGG ..
  55. ncbi Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation
    Kausik Mandal
    Department of Medical Genetic, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India
    Indian J Pediatr 76:1027-31. 2009
    To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation.
  56. pmc MicroRNAs as a molecular basis for mental retardation, Alzheimer's and prion diseases
    Patrick Provost
    CHUL Research Center CHUQ and Faculty of Medicine, Universite Laval, Quebec, QC, Canada
    Brain Res 1338:58-66. 2010
    ....
  57. ncbi NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
    Bernard Grisart
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium
    Eur J Hum Genet 16:305-11. 2008
    ..microdeletion carriers present a more severe phenotype than patients with intragenic mutations, including mental retardation, cardiac anomalies and dysmorphic features...
  58. ncbi Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis
    Roxanne Node-Langlois
    Department of Basic Neuroscience, University of Geneva, School of Medicine, 1211 Geneva 4, Switzerland
    J Cell Sci 119:4986-93. 2006
    The biological mechanisms underlying the mental retardation associated with mutation of the ARHGEF6 gene, a Rac1/Cdc42 exchange factor, are still unknown, although defects in the plasticity of synaptic networks have been postulated...
  59. ncbi On the cause of mental retardation in Down syndrome: extrapolation from full and segmental trisomy 16 mouse models
    Z Galdzicki
    Section on Brain Physiology and Metabolism, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Brain Res Brain Res Rev 35:115-45. 2001
    Down syndrome (DS, trisomy 21, Ts21) is the most common known cause of mental retardation. In vivo structural brain imaging in young DS adults, and post-mortem studies, indicate a normal brain size after correction for height, and the ..
  60. ncbi Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
    Kunio Kitamura
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Hum Mol Genet 18:3708-24. 2009
    ..Many ARX mutations have been identified in X-linked lissencephaly and mental retardation with epilepsy, and thus ARX is considered to be a causal gene for the two syndromes although the ..
  61. ncbi Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 S Euclid Ave, St Louis, Missouri 63110, USA
    Arch Neurol 65:550-3. 2008
    ..To determine gene(s) disrupted in a patient with partial frontal lobe epilepsy and cognitive impairment with concomitant de novo balanced chromosomal translocation t(2;13)(q24;q31)...
  62. ncbi Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Nat Genet 37:1345-50. 2005
    ..exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21...
  63. pmc Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
    D A Koolen
    Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, Netherlands
    J Med Genet 41:892-9. 2004
    Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes...
  64. pmc Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
    Ute I Scholl
    Department of Genetics, The Howard Hughes Medical Institute, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 106:5842-7. 2009
    ..kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)...
  65. ncbi Pervasive developmental disorders in preschool children
    S Chakrabarti
    MRC Child Psychiatry Unit, Institute of Psychiatry/King's College London, Denmark Hill, London SE5 8AF, England
    JAMA 285:3093-9. 2001
    ..Of the 97 children with a PDD, 25.8% had some degree of mental retardation and 9.3% had an associated medical condition...
  66. pmc Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
    T Kleefstra
    Department of Human Genetics, University Medical Centre St Radboud, Nijmegen, The Netherlands
    J Med Genet 42:299-306. 2005
    ..These have in common severe mental retardation, hypotonia, brachycephaly, flat face with hypertelorism, synophrys, anteverted nares, thickened lower lip, ..
  67. ncbi Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study
    P Strømme
    Department of Paediatrics, Rikshospitalet, The National Hospital, Oslo, Norway
    Dev Med Child Neurol 42:266-70. 2000
    The main purpose of the study was to estimate the prevalence of psychiatric diagnoses in children with mental retardation (MR) (IQ < or = 70)...
  68. pmc Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Hum Genet 77:442-53. 2005
    ..MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males...
  69. pmc Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
    Paolo Moretti
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Autism Dev Disord 38:1170-7. 2008
    ..These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities.
  70. ncbi Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes 7, quai Moncousu, 44000 Nantes Cedex, France
    Am J Med Genet A 152:175-80. 2010
    ..Point mutations in CUL4B were identified recently in patients with syndromic X-linked mental retardation (XLMR)...
  71. ncbi Low-frequency bilateral hypothalamic stimulation for treatment of drug-resistant aggressiveness in a young man with mental retardation
    Virgilio Hernando
    Functional Neurosurgery Unit, Hospital Universitario La Princesa, Madrid, Spain
    Stereotact Funct Neurosurg 86:219-23. 2008
    ..The patient had an improved response to low-frequency stimulation that was sustained 18 months later at a follow-up examination...
  72. ncbi The influence of combined exercise training on indices of obesity, physical fitness and lipid profile in overweight and obese adolescents with mental retardation
    Sami Mohammed Elmahgoub
    Rehabilitation Sciences and Physiotherapy Ghent Campus Heymans 1B3, University of Ghent, De Pintelaan 185, 9000 Ghent, Belgium
    Eur J Pediatr 168:1327-33. 2009
    This study investigated the effect of combined exercise training on indices of body composition, physical fitness and lipid profile in adolescents with mental retardation.
  73. ncbi De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
    P Makrythanasis
    Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Clin Genet 78:175-80. 2010
    ..Furthermore, duplication of the entire gene has recently been described in boys with mental retardation and recurrent infections. We describe a girl with a heterozygous de novo MECP2 duplication...
  74. pmc Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods
    Alenka Erjavec-Skerget
    Medical Genetics Laboratory, Maribor Teaching Hospital, Maribor, Slovenia
    Croat Med J 47:841-50. 2006
    To identify cryptic subtelomeric rearrangement, a possible cause of idiopathic mental retardation by means of multiprobe telomere fluorescent in situ hybridization (T-FISH).
  75. pmc Pax6 3' deletion results in aniridia, autism and mental retardation
    L K Davis
    Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA
    Hum Genet 123:371-8. 2008
    ..Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1...
  76. ncbi Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
    C Cardoso
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Firenze, Italy
    Neurology 72:784-92. 2009
    ..Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned...
  77. ncbi X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
    P Poo-Arguelles
    Department of Neuropediatrics, Hospital Sant Joan de Deu, Barcelona, Spain
    J Inherit Metab Dis 29:220-3. 2006
    ..The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS...
  78. ncbi A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae
    Keiko Shimojima
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku Ward, Tokyo 162 8666, Japan
    Eur J Med Genet 52:433-5. 2009
    ..This suggests that haploinsufficiency of TBX6 can lead to vertebral malformation in low penetrance...
  79. ncbi Urinary tract infections during pregnancy and mental retardation and developmental delay
    S McDermott
    Department of Family and Preventive Medicine, University of South Carolina School of Medicine, Columbia 29203, USA
    Obstet Gynecol 96:113-9. 2000
    To investigate the association between urinary tract infections during pregnancy and mental retardation or developmental delay in infants.
  80. ncbi Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome
    A Mishra
    Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre, Manesar, Gurgaon, 122 050, India
    Cell Mol Life Sci 65:656-66. 2008
    ..Partial knockdown also increased neuronal cell death, which may be mediated partly via p53. Our result suggests that E6-AP not only enhances the degradation of p53 but also regulates the neuronal cell growth...
  81. pmc Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases
    Bixia Xiang
    University of Miami Miller School of Medicine, Mailman Center for Child Development, Room 7050, 1601 Northwest 12th Avenue, Miami, FL 33136, USA
    J Mol Diagn 12:204-12. 2010
    To assess the clinical utility of genome-wide oligonucleotide arrays in diagnosis of mental retardation and to address issues relating to interpretation of copy number changes (CNCs), we collected results on a total of 1499 proband ..
  82. ncbi Effects of low-intensity behavioral treatment for children with autism and mental retardation
    Sigmund Eldevik
    Akershus University Hospital, Nordbyhagen, Norway
    J Autism Dev Disord 36:211-24. 2006
    ..However, gains were more modest than those reported in previous studies with children receiving more intensive behavioral treatment, and it is questionable whether they were clinically significant...
  83. ncbi Perinatal risk for mortality and mental retardation associated with maternal urinary-tract infections
    S McDermott
    Department of Family and Preventive Medicine, University of South Carolina School of Medicine, Columbia 29203, USA
    J Fam Pract 50:433-7. 2001
    The researchers analyzed the relationship between fetal exposure to maternal urinary tract infections (UTIs) and mental retardation or developmental delay and fetal death.
  84. ncbi Siblings' experiences of having a brother or sister with autism and mental retardation: a case study of 14 siblings from five families
    Ylva Benderix
    Department of Health Sciences, Section of Nursing, Lund University, Lund, Sweden
    J Pediatr Nurs 22:410-8. 2007
    ..past experiences of 14 siblings from five families in terms of having a brother or sister with autism and mental retardation. Personal interviews were conducted with the siblings before their brothers or sisters were moved to a newly ..
  85. ncbi Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements
    A P A Stegmann
    Cytogenetics Laboratory, Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
    Eur J Med Genet 51:93-105. 2008
    ..subtelomeric unbalanced chromosomal rearrangements (UCRs) that are believed to cause 3-5% of all cases of mental retardation (MR), but often remain undetected by routine karyotyping because of limited resolution in light microscopy...
  86. pmc Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation
    Orianne Philippe
    INSERM U781, Département de Génétique and Département de Radiologie Pédiatrique, Universite Paris Descartes, Hopital Necker Enfants Malades, 75015 Paris, France
    Am J Hum Genet 85:903-8. 2009
    Autosomal-recessive inheritance accounts for nearly 25% of nonsyndromic mental retardation (MR), but the extreme heterogeneity of such conditions markedly hampers gene identification...
  87. ncbi Rho proteins, mental retardation and the cellular basis of cognition
    Ger J A Ramakers
    Neurons and Networks, Netherlands Institute for Brain Research, Graduate School Neurosciences Amsterdam, Meibergdreef 33, 1105 AZ Amsterdam ZO, The Netherlands
    Trends Neurosci 25:191-9. 2002
    For several decades, it has been known that mental retardation (MR) is associated with abnormalities in dendrites and dendritic spines...
  88. pmc Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
    Denise Horn
    Institute of Medical Genetics, Charite, University Medicine of Berlin, Berlin, Germany
    Hum Mutat 31:E1851-60. 2010
    b>Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently...
  89. ncbi Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
    Fatma Daoud
    Institut Cochin, Universite Paris Descartes, INSERM, CNRS UMR, France
    Hum Mol Genet 18:3779-94. 2009
    The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem...
  90. ncbi Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Neurogenetics 7:59-66. 2006
    b>Mental retardation (MR) is displayed by 57% of NF1 patients with microdeletion syndrome as a result of 17q11.2 region haploinsufficiency...
  91. ncbi The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity
    Katherine Gotham
    University of Michigan Autism and Communication Disorders Center, Ann Arbor, MI, 48109 2054, USA
    J Autism Dev Disord 37:613-27. 2007
    ....
  92. ncbi Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder
    D Kirby
    Clin Genet 67:448-9. 2005
  93. ncbi PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase
    Christoph Loenarz
    Oxford Centre for Integrative Systems Biology, University of Oxford, Oxford, UK
    Hum Mol Genet 19:217-22. 2010
    Mutations of human PHF8 cluster within its JmjC encoding exons and are linked to mental retardation (MR) and a cleft lip/palate phenotype...
  94. pmc A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
    James Y Garbern
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain 133:1391-402. 2010
    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...
  95. ncbi Disruption of the epigenetic code: an emerging mechanism in mental retardation
    Hans van Bokhoven
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neurobiol Dis 39:3-12. 2010
    b>Mental retardation (MR) is a highly diverse group of cognitive disorders. Gene defects account for about half of all patients and mutations causative for impaired cognition have been identified in more than 400 genes...
  96. ncbi Calcium/calmodulin-dependent serine protein kinase and mental retardation
    Yi Ping Hsueh
    Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan
    Ann Neurol 66:438-43. 2009
    ..have also indicated that mutations in the human CASK gene result in X-linked malformations of the brain and mental retardation. At the molecular level, many studies indicate that CASK is critical for synapse formation at both ..
  97. ncbi Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies
    Tamim H Shaikh
    Division of Human Genetics, The Children s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Genet Med 9:617-25. 2007
    ..become a widely used approach in the genome-wide analysis of copy number alterations in children with mental retardation and/or multiple congenital anomalies...
  98. ncbi Rho proteins and the cellular mechanisms of mental retardation
    G J Ramakers
    Neurons and Networks, Netherlands Institute for Brain Research, Amsterdam, The Netherlands
    Am J Med Genet 94:367-71. 2000
    The biological basis of mental retardation is poorly understood...
  99. pmc Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
    Bradley L Griggs
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA
    Genomics 91:195-202. 2008
    We have identified disruptions in the dedicator of cytokinesis 8 gene, DOCK8, in two unrelated patients with mental retardation (MR)...
  100. ncbi Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
    Loic de Pontual
    Unité INSERM U 781, Universite Paris Descartes, Faculte de Medecine, INSERM
    Hum Mutat 30:669-76. 2009
    ..In summary, we further delineate an underdiagnosed mental retardation syndrome, highlighting TCF4 function during development and facilitating diagnosis within the first year of ..
  101. ncbi The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2, Calambrone, Pisa 56018, Italy
    Brain Dev 27:365-9. 2005
    ..the Prader-Willi/Angelman syndrome region, are associated with altered behaviour, developmental delay/mental retardation, and seizures/epilepsy...

Research Grants71

  1. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
    ..Nondisjunction is a leading cause of miscarriage, birth defects and mental retardation. Although nondisjunction is clinically important, little is known about the mechanisms and risk factors ..
  2. Cre, Dre Dual Lineage Model for Calcium Imaging and Optogenetic Manipulations
    Petr Tvrdik; Fiscal Year: 2013
    ..for example, have been implicated in neurodevelopmental diseases such as Rett syndrome, fragile X mental retardation and in epileptogenesis...
  3. Glutamate receptor recruitment to new synapses in vivo
    PHILIP ERIC WASHBOURNE; Fiscal Year: 2013
    ..Minor irregularities during synapse formation can lead to developmental disorders such as autism, mental retardation and may contribute to psychological disorders...
  4. Environmental Risk Factors for Copy Number Variation in Human Chromosomes
    THOMAS EDWARD WILSON; Fiscal Year: 2010
    ..spontaneous CNVs are now well known to be a major cause of genetic and developmental disorders, including mental retardation, autism, schizophrenia, epilepsy, cleft palate and many others...
  5. Identifying all Meckel-like ciliopathy genes by established total exome capture a
    Friedhelm Hildebrandt; Fiscal Year: 2010
    ..Retinal-renal ciliopathies cause kidney failure, retinal degeneration, liver fibrosis, mental retardation and malformations of brain, bone and heart...
  6. Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    Robert L Nussbaum; Fiscal Year: 2013
    ..The Lowe OculoCerebroRenal syndrome of (LOCR) is a rare X-linked disorder of congenital cataracts, mental retardation, behavioral abnormalities, and renal tubulopathy...
  7. Retroviral Vector-mediated Liver Gene Therapy for MPS I
    Katherine P Ponder; Fiscal Year: 2013
    ..causes bone and joint abnormalities, pulmonary and cardiac disease, hearing and visual deficiencies, mental retardation, and death around age 5 if untreated...
  8. Mechanisms of ethanol-induced neurodevelopmental effects
    Marina Guizzetti; Fiscal Year: 2011
    ..Different degrees of mental retardation are often observed in inborn errors of cholesterol synthesis such as Smith-Lemli-Opitz syndrome...
  9. Structural biology of enzymes in fatty acid metabolism
    Liang Tong; Fiscal Year: 2012
    ..PC deficiency is linked to lactic acidosis and mental retardation in humans. Carnitine acyltransferases catalyze the exchange of acyl groups between carnitine and CoA...
  10. The Mucolipin TRP Ion Channels
    Haoxing Xu; Fiscal Year: 2013
    ..ML4 patients exhibit motor defects, mental retardation, retinal degeneration, and iron-deficiency anemia...
  11. Dietary Cholesterol and Defects in Cholesterol Synthesis
    ROBERT DAVID STEINER; Fiscal Year: 2013
    ..Affected individuals exhibit multiple malformations and mental retardation. The features of SLOS are thought to be primarily related to cholesterol deficiency and accumulation of 7DHC...
  12. MECHANISMS OF DENDRITE MORPHOGENESIS BY THE ANAPHASE-PROMOTING COMPLEX
    ALBERT HONG JAE KIM; Fiscal Year: 2013
    ..Human cohesinopathy syndromes are linked to mutations in cohesion genes and are characterized by mental retardation. This aim will test the hypothesis that dysregulation of a Cdc20-APC/cohesion dendrite morphogenesis pathway ..
  13. Ephrin-A3 in Neuron-Glia Communication
    Elena B Pasquale; Fiscal Year: 2011
    ..gene contribute to neurological diseases characterized by abnormalities in dendritic spinesincluding mental retardation, autism, epilepsy, and schizophreniaand whether the ephrin-A3 knockout mouse may represent a useful ..
  14. Attenuating the retinal and CNS adverse effects of vigabatrin with NKCC1 inhibito
    Frances E Jensen; Fiscal Year: 2010
    ..2000 live births, with seizures being refractory and if untreated leads to greater than a 50% incidence in mental retardation. These compelling numbers have lead to a recent increase in newer antiepileptic drugs (AEDs) being approved ..
  15. Novel genetics, pathobiology &therapy of nephronophthisis-related ciliopathies
    Friedhelm Hildebrandt; Fiscal Year: 2013
    ..It can be associated with progressive blindness (retinal degeneration), liver fibrosis, mental retardation and malformations of brain, heart and bone...
  16. Chromosomal Control of Segregation of C. Elegans
    Abby F Dernburg; Fiscal Year: 2013
    ..Errors in meiosis are a major cause of human miscarriages, infertility, and mental retardation arising from chromosomal birth defects such as Down syndrome...
  17. Iodine Nutrition and Thyroid Disease During Pregnancy and Lactation
    ANGELA MEI TIN LEUNG; Fiscal Year: 2013
    ..Research Iodine deficiency is debilitating, prevalent, and the leading cause of mental retardation worldwide. Dietary iodine is necessary for thyroid hormone synthesis...
  18. Epidemiological Research on Autism in Jamaica
    Mohammad H Rahbar; Fiscal Year: 2010
    ..lifelong neurodevelopmental and behavioral disorders and about 50% of ASD children suffer some degree of mental retardation and other developmental disorders...
  19. NFAT Signaling and Down Syndrome
    Gerald R Crabtree; Fiscal Year: 2012
    ..The characteristics of DS include certain constant phenotypic characteristics such as mental retardation, craniofacial features, and immunodeficiency as well as inconstant characteristics such as congenital heart ..
  20. Dissecting the role of one neuronal RhoGEF amongst many: the Kalirin-7 null mouse
    Richard E Mains; Fiscal Year: 2012
    ..b>Mental retardation is associated with deficits in individual Rho proteins, in the guanine nucleotide exchange factors (GEFs) ..
  21. Role of histone acetyltransferases in memory storage and synaptic plasticity
    MARCEL ANDRE ESTEVEZ; Fiscal Year: 2012
    ..play a crucial role in a variety of neurological and mental disorders, including Alzheimer's disease, mental retardation, epilepsy and depression...
  22. Control of Renal Glutaminase Expression during Acidosis
    Norman P Curthoys; Fiscal Year: 2012
    ..Chronic acidosis causes mental retardation in children and osteomalacia, nephrocalcinosis and urolithiasis in adults...
  23. STRUCTURE AND FUNCTION OF PAXILLIN
    Christopher E Turner; Fiscal Year: 2012
    ..normal embryonic development, tissue repair and immune surveillance, but is also a contributing factor in mental retardation, developmental defects, tumor cell invasion and tissue fibrosis...
  24. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2012
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS ..
  25. Epigenetic Effects of Prenatal Ethanol Exposure
    Thomas P Yang; Fiscal Year: 2010
    Fetal alcohol syndrome (FAS) is a significant cause of mental retardation and birth defects worldwide...
  26. Novel vaccine to CMV based on a disc virus
    Alistair McGregor; Fiscal Year: 2010
    ..by HCMV (approximately 1% of live births in the US) can lead to serious symptomatic disease including mental retardation and hearing loss...
  27. The Role of Cks Proteins in Mammalian Meiosis
    Charles H Spruck; Fiscal Year: 2010
    ..is the most common genetic abnormality in human pregnancies (5-25% of cases) and the predominant cause of mental retardation in humans...
  28. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2011
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS ..
  29. Prophage-associated virulence factors in pathogenic Neisseria species
    ANNA KARLS; Fiscal Year: 2009
    ..Despite the use of chemotherapeutics, 10-40% of invasive meningococcal infections are fatal and 10-15% of survivors have serious sequelae, including mental retardation and deafness.
  30. A Phase II Trial of Levodopa in Angelman Syndrome
    Wen Hann Tan; Fiscal Year: 2013
    ..AS is characterized by mental retardation, limited speech, seizures, abnormal movements such as tremors, and ataxic gait...
  31. Intravenous Protein Therapy for Treatment of Congenital Muscular Dystrophy
    Bradley L Hodges; Fiscal Year: 2010
    ..respiratory insufficiency, feeding difficulties, joint contractures and scoliosis, and in some patients mental retardation and epilepsy...
  32. Regulation of TRP channels and visual transduction
    Craig Montell; Fiscal Year: 2013
    ..dominant polycystic kidney disease, and mucolipidosis type IV, which causes severe neurodegeneration, mental retardation and retinal degeneration...
  33. Molecular and cellular mechanism of Microcephaly
    Arnold Kriegstein; Fiscal Year: 2013
    ..Patients often have a broad spectrum of neurological problems, including mental retardation, focal or generalized seizures, hyperactivity, and attention deficit disorder...
  34. The Ethics of Fragile X Genetic Screening and Testing Across the Lifespan
    Kruti Acharya; Fiscal Year: 2012
    ..Proposed screening programs for Fragile X Syndrome (FXS), the most common cause of inherited mental retardation (MR), highlight the significant ethical challenges of diagnosing a condition when the meaning of a genotype ..
  35. Regulation of 22q11 Genes in Embroyonic and Adult Forebrain
    Anthony S LaMantia; Fiscal Year: 2013
    ..of the relationship between genetic mutations and devastating behavioral disorders including autism, mental retardation, attention deficit/hyperactivity disorder (ADHD), mood disorders, and schizophrenia...
  36. Gene Therapy of Mucopolysaccharidosis VII
    Mark E Haskins; Fiscal Year: 2012
    ..The severe form has bone and joint abnormalities, pulmonary and cardiac disease, visual deficiencies, mental retardation, and death before adulthood...
  37. Distance-Dependent Structure and Function of Neuronal Dendrites
    Kristen M Harris; Fiscal Year: 2013
    ..of Neuronal Dendrites" Neuronal dendrites, axons and synapses are structurally distorted in individuals with mental retardation and other neurological disorders. Their structure also differs greatly in normal brains...
  38. MRDD Research Center
    KARL PFENNINGER; Fiscal Year: 2009
    DESCRIPTION [provided by applicant]: The University of Colorado Mental Retardation and Developmental Disabilities Research Center requests support for nine cores (eight previously funded and one proposed) for a comprehensive research ..
  39. Pathogenesis/Treatment-Inherited Cholesterol Deficiency
    Gordon L Watson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Smith-Lemli-Opitz syndrome (SLOS) is a dysmorphology and mental retardation disorder lacking adequate therapy options...
  40. DOSAGE COMPENSATION OF THE ACTIVE X CHROMOSOME IN MAMMALS
    Christine M Disteche; Fiscal Year: 2010
    ..biology of the X chromosome and the role of X-linked gene expression in sex chromosome disorders and mental retardation. The proposed research is relevant to the role of the X chromosome in human diseases...
  41. Thyroid hormone-dependent DNA methylation in the developing brain
    Yasuhiro Kyono; Fiscal Year: 2012
    ..Such understanding can contribute to the prevention, diagnosis and treatment of human neurological conditions such as mental retardation, autism spectrum disorder and schizophrenia.
  42. Mediator and epigenetic control of neuronal gene expression and differentiation
    Thomas G Boyer; Fiscal Year: 2013
    ..Genetic variation in MED12 has been linked to neuropsychiatric illness and X-linked mental retardation (XLMR)...
  43. Pathophysiology and potential therapy for a childhood neurodegenerative disease
    Marquis T Walker; Fiscal Year: 2011
    ..with MLIV are diagnosed typically at about 1-3 years of age and display severe motor function deficits, mental retardation and retinal degeneration...
  44. Distance-Dependent Structure and Function of Neuronal Dendrites
    Kristen M Harris; Fiscal Year: 2010
    ..provided by applicant): Neuronal dendrites and synapses are structurally distorted in individuals with mental retardation and other neurological disorders...
  45. Early Identification of Developmental Disorders in Infants
    B Eugene Parker; Fiscal Year: 2012
    ..g., cerebral palsy, mental retardation) and an additional 25-50% exhibiting mild to moderate neurodevelopmental disabilities (e.g...
  46. Translating Dosage Compensation to Trisomy
    Jeanne Bentley Lawrence; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: Lay Summary: Down Syndrome is the leading genetic cause of mental retardation and is caused by an extra copy of Chromosome 21...
  47. Neuronal RNA processing defects in ALS4 caused by SETX mutations
    Craig L Bennett; Fiscal Year: 2013
    ..is well established including loss of SMN in spinal muscular atrophy (SMA) and loss of FMRP in fragile-X mental retardation. However, the recent discovery of the involvement of TDP-43 and FUS in familial and sporadic ALS (FALS and ..
  48. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2013
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS ..
  49. The Role of BAF53b Mediated Nucleosome Remodeling in Long-Term Memory Formation
    ANNIE THERESE VOGEL-CIERNIA; Fiscal Year: 2013
    ..proper gene expression and are central to mechanisms of development, cancer, and human disease, including mental retardation. A major discovery in understanding the role of nucleosome remodeling in neurons was the identification of a ..
  50. Genetic and Molecular Mechanisms of Ethanol-Induced Developmental Defects
    RACHAEL LOUISE FRENCH; Fiscal Year: 2013
    ..exposure to ethanol in mammals leads to a range of developmental problems, from growth deficiency to mental retardation and behavioral abnormalities...
  51. Fragile X and Synaptic Plasticity
    Julie C Lauterborn; Fiscal Year: 2012
    ..PUBLIC HEALTH RELEVANCE: Efforts to identify causes of mental retardation associated with Fragile X Syndrome led to the discovery of synaptic plasticity impairments in a mouse model ..
  52. The Role of Intracellular Metabotropic Glutamate Receptor 5 at the Synapse
    CAROLYN ANN PURGERT; Fiscal Year: 2012
    ..In FXS, a single-gene disorder characterized by mental retardation and a range of autistic features, an expanded trinucleotide repeat results in a deficiency of Fragile X ..
  53. Effects of Ethanol on Insulin Signaling in the Brain
    Suzanne M de la Monte; Fiscal Year: 2013
    Fetal alcohol spectrum disorder (FASD) is the most common preventable cause of mental retardation in the USA...
  54. Physiological Disturbances Associated with Neonatal Intraventricular Hemorrhage
    JEFFREY RADIN KAISER; Fiscal Year: 2012
    ..Approximately 75% of these infants develop mental retardation and/or cerebral palsy, resulting in profound individual and familial consequences...
  55. Regulation of Synapse Morphogenesis in Drosophila
    David L Van Vactor; Fiscal Year: 2013
    ..synapse form and function leads to a number of neurological disorders, including epilepsy, autism and mental retardation. Our goal is to explore the molecular machinery that mediates synapse development and morphogenesis...
  56. INTERNATIONAL HERPESVIRUS WORKSHOP
    Jay A Nelson; Fiscal Year: 2010
    ..CMV is a major cause of birth defects including mental retardation, blindness and deafness due to congenital transmission but also a significant opportunistic pathogen in AIDS ..
  57. EFFECT OF ETHANOL ON CELL PROLIFERATION
    Michael W Miller; Fiscal Year: 2010
    ..cause of developmental mental dysfunction affecting ~2% of all live births (indeed, it is the chief cause of mental retardation in the USA), and it provides insights into the etiology of other (often co-morbid) mental health disorders (..
  58. Elucidating the role of the eIF2alpha kinase PERK in synaptic plasticity and memo
    MY AI TRINH; Fiscal Year: 2010
    ..to accompany several human neurological disorders and neurodegenerative diseases including Fragile X linked mental retardation, Alzheimer's disease (AD), Parkinson's disease (PD) and tuberous sclerosis...
  59. Repair of HCMV-Induced DNA Damage in Infected Cells
    Elizabeth A Fortunato; Fiscal Year: 2013
    ..observed in the central nervous system (CNS) and include hearing loss, vision loss, microcephaly and mental retardation. Despite considerable effort, the underlying mechanisms causing these CNS defects remain unknown...
  60. Kinetics of Chromosome Synapsis During Meiosis
    Jennifer C Fung; Fiscal Year: 2013
    ..during meiosis is directly tied to human infertility and is also the leading known genetic cause for mental retardation and developmental disabilities...
  61. Is Maternal Iron Status a Risk Factor in Fetal Alcohol Syndrome?
    Susan M Smith; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Fetal Alcohol Spectrum Disorder (FASD) is the leading known cause of mental retardation. Its severity increases with parity, prompting suggestions that parity depletes some maternal factor/s that ..
  62. Polarization and directed cell movements in engineered cellular environments
    Deborah E Leckband; Fiscal Year: 2010
    ..It also drives disease progression in cancer, mental retardation, atherosclerosis, and arthritis...
  63. Effects of Methylmercury on Neuronal Cell Migration
    Hitoshi Komuro; Fiscal Year: 2010
    ..The victims manifested a cerebral palsy-like syndrome characterized by severe mental retardation, motor dysfunction, and repeated convulsions...
  64. GUIDING VISUAL ATTENTION TO ENHANCE DISCRIMINATION LEARNING
    Michael T Carlin; Fiscal Year: 2011
    ..g., line orientation, curvature) in populations with autism, Down syndrome, mixed-etiology mental retardation, and no intellectual disability (MA-matched);(2) assess visual search skills in complex visual arrays within ..
  65. Neuroligin Regulation of Central GABAergic Synapses
    Zhanyan Fu; Fiscal Year: 2010
    ..synaptic dysfunction may lead to severe neurodevelopmental disorders, such as autism, Asperger syndrome and mental retardation. These studies will enable us to understand how neuroligins regulate inhibitory synaptic transmission, and, ..
  66. Functional studies of the Fragile X Mental Retardation Protein: switching from re
    Mihaela Mihailescu; Fiscal Year: 2009
    Fragile X mental retardation syndrome is the most common form of inherited mental retardation, affecting ~1 in 4000 males and ~ 1 in 8000 females...
  67. Cognitive Derminants of Mild Mental Retardation
    Dasen Luo; Fiscal Year: 2005
    ..from which the intellectual development of school children, particularly children identified to have mild mental retardation, can be examined...
  68. GENE THERAPY: LYSOSOMAL DISEASES WITH MENTAL RETARDATION
    ROBERT DESNICK; Fiscal Year: 1999
    ..Central to this application is the fact that, unlike other disorders causing mental retardation in which the primary metabolic defect lies outside the CNS, the primary cell type which must be targeted in ..
  69. MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES
    ROBERT DESNICK; Fiscal Year: 2007
    ..provided by applicant): This revised application is designed to continue and expand the training program in mental retardation and developmental disabilities (MRDD) at Mount Sinai School of Medicine...
  70. LOCALIZATION OF MRNAS AT SYNAPTIC SITES ON DENDRITES
    Oswald Steward; Fiscal Year: 2011
    ..Recent studies indicate that the core neurological defect in a common neurological disorder Fragile X Mental Retardation Syndrome (FXS), may involve a disruption of protein synthesis at synapses due to the loss of Fragile X ..
  71. GENETIC BIOCHEMICAL DISORDERS IN MENTAL RETARDATION
    Stephen Goodman; Fiscal Year: 2004
    This application is for continued support of a Program Project Grant in an NICHD-funded Mental Retardation Research Center (MRRC)...