Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

[1]  M. Butler,et al.  Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome. , 2008, Journal of intellectual disability research : JIDR.

[2]  J. Fryns,et al.  A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience. , 2008, Journal of mental deficiency research.

[3]  D. J. Coetzee,et al.  A multidisciplinary diagnostic/genetic study on the 105 patients with mental retardation of the E.S. Le Grange School. , 2008, Journal of mental deficiency research.

[4]  J M Freeman,et al.  Practice parameter: evaluation of the child with global developmental delay. , 2003, Neurology.

[5]  James L. Bellini,et al.  Mental Retardation: Definition, Classification, and Systems of Supports , 2003 .

[6]  Dagmar Wieczorek,et al.  Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. , 2002, American journal of human genetics.

[7]  R. Hennekam,et al.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience , 2002, Journal of medical genetics.

[8]  Robert L. Schalock,et al.  Mental Retardation: Definition, Classification, and Systems of Supports , 2002 .

[9]  A. Munnich,et al.  Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation , 2002, Journal of medical genetics.

[10]  J. Tyson,et al.  Risk factors for early death among extremely low-birth-weight infants. , 2002, American journal of obstetrics and gynecology.

[11]  R. Weksberg,et al.  Detecting rearrangements in children using subtelomeric FISH and SKY. , 2002, American journal of medical genetics.

[12]  E. Blennow,et al.  Subtelomeric rearrangements detected in patients with idiopathic mental retardation. , 2002, American journal of medical genetics.

[13]  Douglas G Altman,et al.  Systematic reviews in health care: Assessing the quality of controlled clinical trials. , 2001, BMJ.

[14]  P. A. van den Brandt,et al.  The art of quality assessment of RCTs included in systematic reviews. , 2001, Journal of clinical epidemiology.

[15]  R. Regan,et al.  Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay , 2001, European Journal of Human Genetics.

[16]  C. Romano,et al.  Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations , 2001, Journal of medical genetics.

[17]  J. Weber,et al.  Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. , 2001, American journal of human genetics.

[18]  C R Bauer,et al.  Sex differences in outcomes of very low birthweight infants: the newborn male disadvantage , 2000, Archives of disease in childhood. Fetal and neonatal edition.

[19]  A. Papavasiliou,et al.  Neurometabolic Testing in Developmental Delay , 2000, Journal of child neurology.

[20]  J. Ménard,et al.  [MRI of the brain in the evaluation of children with developmental delay]. , 2000, Journal de radiologie.

[21]  C. Tzeng,et al.  Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. , 2000, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

[22]  C. Noa,et al.  Etiological Characterization of 512 Severely Mentally Retarded Institutionalized Patients in Havana , 2000, Public Health Genomics.

[23]  M. Abrahamowicz,et al.  Etiologic yield of subspecialists' evaluation of young children with global developmental delay. , 2000, The Journal of pediatrics.

[24]  H. Law,et al.  DNA testing for fragile X syndrome in 255 males from special schools in Singapore. , 2000, Annals of the Academy of Medicine, Singapore.

[25]  M. Clarke The QUORUM statement , 2000, The Lancet.

[26]  G. Hagberg,et al.  Aetiology in severe and mild mental retardation: a population‐based study of Norwegian children , 2000, Developmental medicine and child neurology.

[27]  G. Hagberg,et al.  Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. , 2000 .

[28]  A. Hunter Outcome of the routine assessment of patients with mental retardation in a genetics clinic. , 2000, American journal of medical genetics.

[29]  B. D. de Vries,et al.  Screening for the fragile X syndrome among the mentally retarded: a clinical study , 1999, Journal of medical genetics.

[30]  A. Vianna-Morgante,et al.  Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. , 1999, American journal of medical genetics.

[31]  C. Sismani,et al.  Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. , 1999, American journal of medical genetics.

[32]  W. Brown,et al.  Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients. , 1999, American journal of medical genetics.

[33]  S. Faradz,et al.  Molecular screening for fragile X syndrome among Indonesian children with developmental disability. , 1999, American journal of medical genetics.

[34]  A. Smith,et al.  Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes , 1998, Human Genetics.

[35]  A. Hokama,et al.  Biliary Sludge Extruding into the Duodenum , 1998 .

[36]  E. Fernell Aetiological factors and prevalence of severe mental retardation in children in a Swedish municipality: the possible role of consanguinity , 1998, Developmental medicine and child neurology.

[37]  B. D. de Vries,et al.  Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. , 1998, American journal of human genetics.

[38]  J. Hou,et al.  An epidemiological and aetiological study of children with intellectual disability in Taiwan. , 1998, Journal of intellectual disability research : JIDR.

[39]  E. Jellum,et al.  Childhood autism: the need for physical investigations , 1998, Brain and Development.

[40]  M. Durkin,et al.  Prevalence and correlates of mental retardation among children in Karachi, Pakistan. , 1998, American journal of epidemiology.

[41]  S Schwartz,et al.  Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. , 1997, American journal of medical genetics.

[42]  M. Peippo,et al.  Applicability of a checklist for clinical screening of the fragile X syndrome , 1997, Clinical genetics.

[43]  X. Estivill,et al.  Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation , 1997, Human Genetics.

[44]  Ben A. Oostra,et al.  Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey , 1997 .

[45]  L. Shaffer,et al.  Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. , 1997, American journal of human genetics.

[46]  C. Aston,et al.  A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. , 1996, The Journal of pediatrics.

[47]  I. Olkin,et al.  Improving the quality of reporting of randomized controlled trials. The CONSORT statement. , 1996, JAMA.

[48]  I. Verma,et al.  Fragile X syndrome among children with mental retardation , 1996, Indian journal of pediatrics.

[49]  P. S. Massey,et al.  Preventable fraction of mental retardation: analysis based on individuals with severe mental retardation. , 1996, Mental retardation.

[50]  A. Majnemer,et al.  Diagnostic yield of the neurologic assessment of the developmentally delayed child. , 1995, The Journal of pediatrics.

[51]  E. Airaksinen,et al.  A population‐based study on the causes of mild and severe mental retardation , 1995, Acta paediatrica.

[52]  J. Flint,et al.  The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation , 1995, Nature Genetics.

[53]  T. Arinami,et al.  Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals. , 1994, American journal of medical genetics.

[54]  M. Marafie,et al.  Disease profile of 400 institutionalized mentally retarded patients in Kuwait , 1993, Clinical genetics.

[55]  M. Selikowitz,et al.  Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically , 1993, Journal of paediatrics and child health.

[56]  J. Clayton-Smith Syndromes of the Head and Neck , 1993 .

[57]  J. Bodensteiner,et al.  Evaluation of the child with idiopathic mental retardation. , 1992, Pediatric clinics of North America.

[58]  M. Partington,et al.  Population screening for fragile X , 1992, The Lancet.

[59]  S. Ohdo,et al.  Etiologic and Pathogenetic Study of Mental Retardation with Multiple Congenital Anomalies , 1992, Acta paediatrica Japonica : Overseas edition.

[60]  J. Sutcliffe,et al.  Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox , 1991, Cell.

[61]  F. Stanley,et al.  THE AETIOLOGY OF INTELLECTUAL DISABILITY IN WESTERN AUSTRALIA: A COMMUNITY‐BASED STUDY , 1991, Developmental medicine and child neurology.

[62]  K. Hsiao,et al.  Chromosomal and biochemical screening on mentally retarded school children in Taiwan , 1991, Japanese Journal of Human Genetics.

[63]  J. Fryns,et al.  A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X‐linked mental retardation , 1991, Clinical genetics.

[64]  R. Hagerman,et al.  Fragile X checklist. , 1991, American journal of medical genetics.

[65]  M. Cheang,et al.  Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study , 1990, Clinical genetics.

[66]  H. Kingston,et al.  Survey of adolescents with severe intellectual handicap. , 1990, Archives of disease in childhood.

[67]  A J Barkovich,et al.  Brain MR imaging in children with developmental retardation of unknown cause: results in 76 cases. , 1990, AJNR. American journal of neuroradiology.

[68]  B E Kendall,et al.  MYELINATION PATTERNS ON MAGNETIC RESONANCE OF CHILDREN WITH DEVELOPMENTAL DELAY , 1990, Developmental medicine and child neurology.

[69]  R. Berry,et al.  Institutional screening for the fragile X syndrome. , 1988, American journal of diseases of children.

[70]  J. Fryns,et al.  A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience , 1988, Clinical genetics.

[71]  J. Jeret,et al.  Agenesis of the Corpus Callosum: Clinical, Neuroradiological and Cytogenetic Studies* , 1988, Neuropediatrics.

[72]  Preventive Screening for Fragile X Syndrome , 1986, The Lancet.

[73]  T. Arinami,et al.  Frequency of the fragile X syndrome in Japanese mentally retarded males , 1986, Human Genetics.

[74]  M. Seabright,et al.  Chromosome abnormalities in pupils attending ESN/M schools. , 1986, Archives of disease in childhood.

[75]  T. Webb,et al.  A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. , 1985, Journal of medical genetics.

[76]  H. Berghe,et al.  Cytogenetic Findings in Moderate and Severe Mental Retardation A Study of an Institutionalized Population of 1991 Patients , 1984, Acta paediatrica Scandinavica. Supplement.

[77]  M. Kähkönen,et al.  Marker X-associated mental retardation. A study of 150 retarded males. , 1984, Clinical genetics.

[78]  G. Holmgren,et al.  Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence study , 1983, Clinical genetics.

[79]  M. Bojko Human meiosis VIII. Chromosome pairing and formation of the synaptonemal complex in oocytes , 1983 .

[80]  G. Turner,et al.  The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. , 1983, American journal of medical genetics.

[81]  F. Crivelli,et al.  [Ovarian androblastoma with heterologous elements]. , 1983, Pathologica.

[82]  P. Jacobs,et al.  A study of mental retardation in children in the Island of Hawaii , 1983, Clinical genetics.

[83]  K. B. Nielsen,et al.  A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies. , 1983, Danish medical bulletin.

[84]  Y. Kodama Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution. , 1982, Acta medica Okayama.

[85]  E. Brett,et al.  Value of computerised tomography in children with non-specific mental subnormally. , 1982, Archives of disease in childhood.

[86]  K. Narahara A cytogenetic study of children with clinically unclassifiable multiple congenital malformations and mental retardation. , 1981, Acta medica Okayama.

[87]  G. Hagberg,et al.  MILD MENTAL RETARDATION IN SWEDISH SCHOOL CHILDREN , 1981, Acta paediatrica Scandinavica.

[88]  M. Faed,et al.  A chromosome survey of a hospital for the mentally subnormal , 1979, Clinical genetics.

[89]  D. Soudek,et al.  Chromosomal variants in mentally retarded and normal men , 1979, Clinical genetics.

[90]  B. Kint,et al.  A cytogenetic study of a mentally retarded population in South Africa. , 1979, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

[91]  H. J. Grace,et al.  Chromosome abnormalities in South African mental retardates. , 1979, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

[92]  P. Jacobs,et al.  A cytogenetic survey of an institution for the mentally retarded , 1978, Human Genetics.

[93]  G. Sutherland Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. , 1977, Science.

[94]  G. Turner,et al.  AN AETIOLOGICAL STUDY OF 1,000 PATIENTS WITH AN I.Q. ASSESSMENT BELOW 51 , 1975, The Medical journal of Australia.

[95]  N. Herschkowitz,et al.  [Mental retardation in childhood. Clinical, biochemical and epidemiological studies on 286 institutionalized children]. , 1974, Schweizerische medizinische Wochenschrift.

[96]  A. D. McDonald,et al.  Severely retarded children in Quebec: prevalence, causes, and care. , 1973, American journal of mental deficiency.

[97]  D. Gurry,et al.  PHENYLKETONURIA IN CHILDREN IN SPECIAL AND REMEDIAL CLASSES , 1973, The Medical journal of Australia.

[98]  P. Jacobs,et al.  A chromosome survey of a hospital for the mentally subnormal Part 1: Sex chromosome abnormalities , 1972, Clinical genetics.

[99]  P. Jacobs,et al.  Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities , 1972, Clinical genetics.

[100]  S. Sinclair Etiological factors in mental retardation: a study of 470 cases. , 1972, Indian pediatrics.

[101]  L. Weller,et al.  PARENTAL CONSANGUINITY AMONG ISRAELI MENTAL RETARDATES , 1972, Acta paediatrica Scandinavica.

[102]  P. Jacobs,et al.  Chromosome studies on male patients at a mental subnormality hospital , 1971, Clinical genetics.

[103]  H. Moser,et al.  The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School. , 1971, Birth defects original article series.

[104]  E. Brett,et al.  An assessment of the value and limitations of air encephalography in children with mental retardation and with epilepsy. , 1969, Brain : a journal of neurology.

[105]  Punekar Bd Phenylketonuria: a survey of institutions for the mentally retardates. , 1968 .

[106]  W. Centerwall,et al.  Phenylketonuria among the mentally retarded in India. , 1966, Lancet.

[107]  G. E. Roberts A Survey of Mentally Retarded Children: I. General Findings , 1966, Developmental medicine and child neurology.

[108]  M. Marshall STERILISATION BY STEAM UNDER INCREASED PRESSURE; A THIRD COMMUNICATION TO THE MEDICAL RESEARCH COUNCIL BY THE WORKING PARTY ON PRESSURE-STEAM STERILISERS. , 1964, Lancet.

[109]  B. Kendall,et al.  Isolated neurodevelopmental delay in childhood: Clinicoradiological correlation in 170 patients , 2005, Pediatric Radiology.

[110]  U. Froster-Iskenius,et al.  Screening for fra(X)(q) in a population of mentally retarded males , 2004, Human Genetics.

[111]  C. Christophe,et al.  MRI of patients with cerebral palsy and normal CT scan , 2004, Neuroradiology.

[112]  L. Ambani,et al.  Cytogenetic studies in a selected group of mentally retarded children , 2004, Human Genetics.

[113]  M. Gingold,et al.  CME Practice parameter : Evaluation of the child with global developmental delay , 2003 .

[114]  P. Limprasert,et al.  Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital. , 2000, Journal of the Medical Association of Thailand = Chotmaihet thangphaet.

[115]  L. Orozco,et al.  Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico. , 2000, Annales de genetique.

[116]  A. Battaglia,et al.  Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. , 1999, American journal of medical genetics.

[117]  K. Devriendt,et al.  Etiologisch-diagnostisch onderzoek bij 66 volwassen personen met mentale handicap verblijvend in een bezigheidstehuis , 1998 .

[118]  R. Mueller,et al.  The prevalence of Fragile‐X syndrome in an institution for people with learning disability , 1997, Psychiatric genetics.

[119]  R. Regan,et al.  Development and Clinical Application of an Innovative Fluorescence in situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres , 1997, European journal of human genetics : EJHG.

[120]  C. Be,et al.  [Spontaneous abortion: cytogenetic study of 609 cases]. , 1997, Revista medica de Chile.

[121]  B. Gérard,et al.  Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children. , 1997, Annales de genetique.

[122]  J. Fryns,et al.  A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience. , 1995, Genetic counseling.

[123]  S. Agarwal Multicentric study on genetic causes of mental retardation in India. ICMR Collaborating Centres & Central Co-ordinating Unit. , 1991, The Indian journal of medical research.

[124]  Prospects Liubolong Improving quality. , 1990, The Psychiatric clinics of North America.

[125]  B. Dutrillaux [High-resolution chromosome staining]. , 1983, Pathologica.

[126]  J. Opitz,et al.  Diagnostic/genetic studies in severe mental retardation. , 1978, Birth defects original article series.

[127]  J. Opitz,et al.  An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967. , 1977, American journal of medical genetics.

[128]  J. Clavert,et al.  [Cytogenetic study of 350 mental deficient patients at medico-pedagogic institutions]. , 1977, Annales medico-psychologiques.

[129]  G. Holmgren Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden. , 1973, Human heredity.

[130]  D. Kutter,et al.  [The frequency of some oligophrenias due to metabolic diseases in the grand-duchy of Luxembourg]. , 1968, Schweizer Archiv fur Neurologie, Neurochirurgie und Psychiatrie = Archives suisses de neurologie, neurochirurgie et de psychiatrie.

[131]  Wld Hlth Org. Techn. Rep. Ser. Organization of services for the mentally retarded. Fifteenth report of the WHO Expert Committee on Mental Health. Geneva, 26 Sept.-2 Oct. 1967. , 1968 .