The epidemiology of mental retardation: challenges and opportunities in the new millennium.

There are a number of problems and challenges in relating the science of epidemiology to mental retardation (MR). These relate to how MR is defined and classified and how these definitions may change over time. These as well as other differences in ascertainment sources and methods need to be considered when comparing MR prevalence over time and place. On the other hand, advances in technology also provide new and efficient methods of data collection both by data linkage and by use of web-based methods to study rare diseases. While prevalence studies have not been individually reviewed, we have examined the range of data including recent studies relating to how prevalence differs according to age, gender, social class and ethnicity. Some problems with available etiological classification systems have been identified. Recent etiological studies, most of which use different classification systems, have been reviewed and explanations have been postulated to account for differences in results. Individual risk factors for MR are considered whilst the option of considering a population as opposed to a high risk strategy to MR prevention is raised. This might well involve improving the social milieu surrounding the occurrence of individual risk factors. The impact of biotechnological advances such as antenatal and neonatal screening and assisted reproduction on MR are discussed. The issue of how inequalities in access to technology may impact on case identification and even have the potential to further widen inequalities is raised. The importance of extending the use of epidemiological tools to study the social, health and economic burden of MR is also emphasized. However, in order to apply to MR the "prevention-intervention-research" cycle, which surely underpins all epidemiology, it is vital to ensure that the methodological challenges we raise are adequately addressed.

[1]  D. Clair,et al.  Apolipoprotein E is a genetic risk factor for fetal iodine deficiency disorder in China , 2000, Molecular Psychiatry.

[2]  Derek Chapman,et al.  The Impact of Maternal Intergenerational Risk Factors on Adverse Developmental Outcomes , 2001 .

[3]  Nel Roeleveld,et al.  The prevalence of mental retardation: a critical review of recent literature , 1997, Developmental medicine and child neurology.

[4]  R. Viscardi,et al.  Placental lesion multiplicity: risk factor for IUGR and neonatal cranial ultrasound abnormalities. , 2001, Early human development.

[5]  I. Liebaers,et al.  Mental development of 201ICSI children at 2 years of age , 1998, The Lancet.

[6]  H. Leonard,et al.  Intellectual disability in Western Australia , 2000, Journal of paediatrics and child health.

[7]  W. Gardner,et al.  Increasing identification of psychosocial problems: 1979-1996. , 2000, Pediatrics.

[8]  D. Mutton,et al.  Results of first year (1989) of a national register of Down's syndrome in England and Wales. , 1991, BMJ.

[9]  H. Zoghbi,et al.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.

[10]  A. Federico,et al.  A Rett syndrome MECP2 mutation that causes mental retardation in men , 2002, Neurology.

[11]  R. Hodapp,et al.  Research in mental retardation: toward an etiologic approach. , 2001, Journal of child psychology and psychiatry, and allied disciplines.

[12]  H. Ropers,et al.  MECP2 is highly mutated in X-linked mental retardation. , 2001, Human molecular genetics.

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

[14]  C. Bower,et al.  Congenital malformations in Aborigines and non‐Aborigines in Western Australia, 1980–1987 (for editorial comment see page 241) , 1989, The Medical journal of Australia.

[15]  H. Leonard,et al.  Medical aspects of school-aged children with Down syndrome. , 1999 .

[16]  F. Gresham,et al.  Conceptual and psychometric concerns about the 1992 AAMR definition of mental retardation. , 1993, American journal of mental retardation : AJMR.

[17]  G Rose,et al.  Sick individuals and sick populations. , 1985, International journal of epidemiology.

[18]  S. Selvin,et al.  The epidemiology of mental retardation of unknown cause. , 2001, Pediatrics.

[19]  C. Mervis,et al.  Low birthweight and the risk for mental retardation later in childhood. , 1995, Paediatric and perinatal epidemiology.

[20]  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.

[21]  K. Sonnander,et al.  Classification, prevalence, prevention and rehabilitation of intellectual disability: an overview of research in the People's Republic of China. , 1997, Journal of intellectual disability research : JIDR.

[22]  L. Burd,et al.  Fetal alcohol syndrome: maternal and neonatal characteristics , 1998, Journal of perinatal medicine.

[23]  I. Scheffer,et al.  doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein , 1998, Cell.

[24]  C D Drews,et al.  The relationship between idiopathic mental retardation and maternal smoking during pregnancy. , 1996, Pediatrics.

[25]  C. Holman The impracticable nature of consent for research use of linked administrative health records. , 2001 .

[26]  C Dezateux,et al.  Issues underlying the evaluation of screening programmes. , 1998, British medical bulletin.

[27]  A. Crocker The causes of mental retardation. , 1989, Pediatric annals.

[28]  D. Lev,et al.  Behavioral phenotypes of genetic syndromes: a reference guide for psychiatrists. , 2001, Journal of the American Academy of Child and Adolescent Psychiatry.

[29]  H. Leonard,et al.  Using genetic epidemiology to study Rett syndrome: the design of a case-control study. , 2000, Paediatric and perinatal epidemiology.

[30]  L. Wheeler,et al.  Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders , 2000, Pediatrics.

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

[32]  S. Rasmussen,et al.  Assisted reproductive technology in the United States : 1997 results generated from the American Society for Reproductive Medicine/Society for Assisted Reproductive Technology Registry. Commentary , 2000 .

[33]  R. Pollitt Tandem mass spectrometry screening: proving effectiveness , 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[34]  M. Shohat,et al.  Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. , 2001, American journal of human genetics.

[35]  H. Grossman,et al.  Classification of Mental Retardation , 1960 .

[36]  C. Cans,et al.  Aetiological findings and associated factors in children with severe mental retardation , 1999, Developmental medicine and child neurology.

[37]  P. Decouflé,et al.  Variation in the influence of selected sociodemographic risk factors for mental retardation. , 1995, American journal of public health.

[38]  F. Vogel,et al.  Some problems in the genetics of X-linked mental retardation , 2000, Cytogenetic and Genome Research.

[39]  S. Broman,et al.  Maternal and neonatal risk factors for mental retardation: defining the 'at-risk' child. , 1998, Early human development.

[40]  C. Mellis,et al.  Evaluation of a national surveillance unit , 1999, Archives of disease in childhood.

[41]  S. Reiss,et al.  The changing conception of mental retardation: implications for the field. , 1994, Mental retardation.

[42]  F L Bookstein,et al.  Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder. , 1997, Teratology.

[43]  T. Hulsey,et al.  Racial differences in temporal changes in newborn viability and survival by gestational age. , 2000, Paediatric and perinatal epidemiology.

[44]  B. Wilfond,et al.  Ethical issues with genetic testing in pediatrics. , 2013, Pediatrics.

[45]  R. Brand,et al.  Outcome of very preterm small for gestational age infants: the first nine years of life , 1998, British journal of obstetrics and gynaecology.

[46]  A. Claussen,et al.  Early childhood anemia and mild or moderate mental retardation. , 1999, The American journal of clinical nutrition.

[47]  RJ Pollitt Principles and performance: assessing the evidence , 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[48]  G. O'brien Adult outcome of childhood learning disability. , 2001, Developmental medicine and child neurology.

[49]  G. O'Brien Defining learning disability: what place does intelligence testing have now? , 2001, Developmental medicine and child neurology.

[50]  M. Sculpher,et al.  Screening for Down's syndrome: effects, safety, and cost effectiveness of first and second trimester strategies. , 2001, BMJ.

[51]  H. Leonard,et al.  Survival of infants born with Down's syndrome: 1980-96. , 2000, Paediatric and perinatal epidemiology.

[52]  S. Greenspan What is meant by mental retardation , 1999 .

[53]  F. Gibson,et al.  Medical and developmental outcome at 1 year for children conceived by intracytoplasmic sperm injection , 1998, The Lancet.

[54]  P. Louhiala RISK INDICATORS OF MENTAL RETARDATION: CHANGES BETWEEN 1967 AND 1981 , 1995, Developmental medicine and child neurology.

[55]  A. Munnich,et al.  MECP2 mutation in non-fatal, non-progressive encephalopathy in a male , 2001, Journal of medical genetics.

[56]  T. Fryers Epidemiological issues in mental retardation. , 2008, Journal of mental deficiency research.

[57]  J. Dambrosia,et al.  Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation , 2001, Annals of neurology.

[58]  J. Grudzinskas,et al.  Outcome in the second year of life after in-vitro fertilisation by intracytoplasmic sperm injection: a UK case-control study , 2001, The Lancet.

[59]  M. Msall,et al.  Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. , 2001, Disability and rehabilitation.

[60]  F. Gresham,et al.  Heightened concerns over the 1992 AAMR definition: advocacy versus precision. , 1995, American journal of mental retardation : AJMR.

[61]  P. Magnus,et al.  Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children , 2000, Social Psychiatry and Psychiatric Epidemiology.

[62]  J. Mercer The myth of 3% prevalence. , 1973, Monographs of the American Association on Mental Deficiency.

[63]  M. Yeargin-Allsopp,et al.  A multiple-source method for studying the prevalence of developmental disabilities in children: the Metropolitan Atlanta Developmental Disabilities Study. , 1992, Pediatrics.

[64]  B. Tonge,et al.  Genes on the X chromosome are important in undiagnosed mental retardation. , 2000, American journal of medical genetics.

[65]  D K Stevenson,et al.  Term infants with fetal growth restriction are not at increased risk for low intelligence scores at age 17 years. , 2001, The Journal of pediatrics.

[66]  M. Gissler,et al.  Health registers as a feasible means of measuring health status in childhood--a 7-year follow-up of the 1987 Finnish birth cohort. , 1998, Paediatric and perinatal epidemiology.

[67]  T. Fryers,et al.  The epidemiology of severe mental handicap. , 1979, Early human development.

[68]  P. Decouflé,et al.  The relationship between maternal education and mental retardation in 10-year-old children. , 1995, Annals of epidemiology.

[69]  S. Bryson,et al.  Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. , 1987, American journal of mental retardation : AJMR.

[70]  M. Preece,et al.  A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. , 1998, Journal of medical genetics.

[71]  M. Durkin,et al.  Socioeconomic status and the prevalence of mental retardation in Bangladesh. , 1993, Mental retardation.

[72]  C. Bower,et al.  Measuring the impact of conjugate vaccines on invasive Haemophilus influenzae type b infection in Western Australia , 1998, Australian and New Zealand journal of public health.

[73]  R. Mckeown,et al.  Low birthweight and risk of mild mental retardation by ages 5 and 9 to 11. , 1993, Paediatric and perinatal epidemiology.

[74]  M. Haveman Epidemiological issues in mental retardation , 1996 .

[75]  G. Lindmark,et al.  Maternal smoking affects fetal growth more in the male fetus. , 2000, Paediatric and perinatal epidemiology.

[76]  M. Gissler,et al.  Boys have more health problems in childhood than girls: follow‐up of the 1987 Finnish birth cohort , 1999, Acta paediatrica.

[77]  S. Waisbren,et al.  "Maternal Thyroid Deficiency During Pregnancy and Subsequent Neuropsychological Development of the Child" (1999), by James E. Haddow et al. , 2014 .

[78]  J. Kurinczuk,et al.  Fetal growth and subsequent mental health problems in children aged 4 to 13 years , 2000, Developmental medicine and child neurology.

[79]  K. Schoendorf,et al.  Differences between black and white women in the use of prenatal care technologies. , 1994, American journal of obstetrics and gynecology.

[80]  A. Birmingham Assisted reproductive technology in the United States: 2000 results generated from the American Society for Reproductive Medicine/Society for Assisted Reproductive Technology Registry. , 2004, Fertility and sterility.

[81]  M. Msall,et al.  Functional status of school‐aged children with Down syndrome , 2002, Journal of paediatrics and child health.

[82]  B. de Benoist,et al.  Iodine deficiency in the world: where do we stand at the turn of the century? , 2001, Thyroid : official journal of the American Thyroid Association.

[83]  T. Fryers Epidemiology and taxonomy in mental retardation. , 1992, Paediatric and perinatal epidemiology.

[84]  D. Glaze,et al.  Epidemiology of Rett syndrome: a population-based registry. , 1993, Pediatrics.

[85]  N. Bailey,et al.  Psychiatric disorders amongst adults with learning disabilities - prevalence and relationship to ability level , 2001, Irish Journal of Psychological Medicine.

[86]  Michaeline Bresnahan,et al.  Influence of variation in birth weight within normal range and within sibships on IQ at age 7 years: cohort study , 2001, BMJ : British Medical Journal.

[87]  Neurological sequelae in children born after in-vitro fertilisation: a population-based study , 2002, The Lancet.

[88]  R L Kruse,et al.  The Zipper: a method for using personal identifiers to link data while preserving confidentiality. , 2001, Child abuse & neglect.

[89]  E. Fombonne,et al.  The epidemiology of autism: a review , 1999, Psychological Medicine.

[90]  A. Curran,et al.  Time costs of caring for children with severe disabilities compared with caring for children without disabilities. , 2001, Developmental medicine and child neurology.

[91]  H. Zoghbi,et al.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. , 1999, American journal of human genetics.

[92]  A. Federico,et al.  MECP2 mutation in male patients with non‐specific X‐linked mental retardation , 2000, FEBS letters.

[93]  J. Kurinczuk,et al.  Congenital hypothyroidism in Western Australia 1981–1998 , 2002, Journal of paediatrics and child health.

[94]  J. Mandel,et al.  Monogenic causes of X-linked mental retardation , 2001, Nature Reviews Genetics.

[95]  F. Stanley,et al.  Prevalence of intellectual handicap in Western Australia: a community study. , 1992, The Medical journal of Australia.

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

[97]  J. Goldblatt,et al.  The Impact of Antenatal Screening for Down Syndrome in Western Australia: 1980–1994 , 1996, The Australian & New Zealand journal of obstetrics & gynaecology.

[98]  P. Decouflé,et al.  Reported biomedical causes and associated medical conditions for mental retardation among 10‐year‐old children, metropolitan Atlanta, 1985 to 1987 , 1997, Developmental medicine and child neurology.

[99]  P. Strømme,et al.  Mental retardation in Norway: prevalence and sub‐classification in a cohort of 30 037 children born between 1980 and 1985 , 1998, Acta paediatrica.

[100]  J. Fryns,et al.  A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. , 2000, American journal of human genetics.

[101]  J. Kurinczuk,et al.  The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. , 2002, The New England journal of medicine.

[102]  E. Susser,et al.  Stability and change in children's intelligence quotient scores: a comparison of two socioeconomically disparate communities. , 2001, American journal of epidemiology.

[103]  E. Fernell,et al.  Mild mental retardation in schoolchildren in a Swedish suburban municipality: prevalence and diagnostic aspects , 1996, Acta paediatrica.

[104]  E. Pollitt Early iron deficiency anemia and later mental retardation. , 1999, The American journal of clinical nutrition.

[105]  J. Kurinczuk,et al.  A population maternal and child health research database for research and policy evaluation in Western Australia , 1997 .

[106]  J. Fletcher,et al.  Inherited metabolic diseases: beyond newborn screening , 1999, Medical Journal of Australia.

[107]  I. Kawachi,et al.  Socioeconomic determinants of health : Health and social cohesion: why care about income inequality? , 1997 .

[108]  J. Chelly,et al.  Two affected boys in a Rett syndrome family , 2000, Neurology.

[109]  George J. Feldman,et al.  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 , 1997, Nature Genetics.

[110]  M. Durkin,et al.  Prenatal and postnatal risk factors for mental retardation among children in Bangladesh. , 2000, American journal of epidemiology.

[111]  Naming, defining, and classifying in mental retardation. , 2001, Mental retardation.

[112]  X. Gu,et al.  Current status of neonatal screening in China , 1999, Journal of medical screening.

[113]  E. Haan,et al.  Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. , 2002, American journal of medical genetics.

[114]  P. Strømme,et al.  Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study , 2000 .

[115]  V. Abadie,et al.  Neonatal screening and long-term follow-up of phenylketonuria: the French database. , 2001, Early human development.

[116]  H. Zoghbi,et al.  Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. , 2000, American journal of medical genetics.

[117]  D. Schendel,et al.  Epidemiology of mental retardation in children , 1998 .

[118]  A. Starza-Smith Recent Trends in Prevalence Studies of Children with Severe Mental Retardation , 1989 .

[119]  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.

[120]  R. Hodapp,et al.  Importance of typologies for science and service in mental retardation. , 1998, Mental Retardation.

[121]  M. Steinhoff,et al.  Vaccines for children in rich and poor countries , 1999, The Lancet.

[122]  K. Durrheim,et al.  Association between the diagnosis of mental retardation and socioeconomic factors. , 1998, American journal of mental retardation : AJMR.

[123]  P. Decouflé,et al.  Mild mental retardation in black and white children in metropolitan Atlanta: a case-control study. , 1995, American journal of public health.

[124]  A. Veiga,et al.  Assisted reproductive technology (ART) in humans: facts and uncertainties. , 2000, Theriogenology.

[125]  C. Bower,et al.  Sequelae of Haemophilus influenzae type b meningitis in Aboriginal and non‐Aboriginal children under 5 years of age , 1994, Journal of paediatrics and child health.

[126]  P. Decouflé,et al.  The administrative prevalence of mental retardation in 10-year-old children in metropolitan Atlanta, 1985 through 1987. , 1995, American journal of public health.

[127]  J. Clayton-Smith,et al.  Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males , 2000, The Lancet.

[128]  Daniel J. Driscoll,et al.  Angelman syndrome: Consensus for diagnostic criteria , 1995 .

[129]  W. Callaghan,et al.  Perinatal risk for mortality and mental retardation associated with maternal urinary-tract infections. , 2001, The Journal of family practice.

[130]  M. Kiely,et al.  THE PREVALENCE OF MENTAL RETARDATION , 1987 .

[131]  K. Scott,et al.  Use of Data Base Linkage Methodology in Epidemiological Studies of Mental Retardation , 1993 .

[132]  D. English,et al.  The prevalence and incidence of Rett syndrome in Australia. , 1997, European child & adolescent psychiatry.

[133]  J. H. Lee,et al.  Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 National Health Interview Survey Disability Supplements. , 2001, American journal of mental retardation : AJMR.

[134]  P. Rantakallio,et al.  Risk factors for mental retardation. , 1985, Archives of disease in childhood.

[135]  E. Elliott,et al.  The Australian Paediatric Surveillance Unit , 1994 .

[136]  F. Stanley,et al.  The decline in congenital rubella syndrome in Western Australia: an impact of the school girl vaccination program? , 1986, American journal of public health.

[137]  D. Lawton,et al.  Acknowledging the extra care parents give their disabled children. , 2001, Child: care, health and development.

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

[139]  I. Veyver Skewed X inactivation in X-linked disorders. , 2001 .

[140]  D. Higgs,et al.  Molecular-clinical spectrum of the ATR-X syndrome. , 2000, American journal of medical genetics.

[141]  B. Tonge,et al.  Population prevalence of psychopathology in children and adolescents with intellectual disability: I. Rationale and methods. , 1996, Journal of intellectual disability research : JIDR.

[142]  D. Mutton,et al.  Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings , 1995, British journal of obstetrics and gynaecology.

[143]  T. Webb,et al.  Prevalence of fragile X syndrome. , 1996, Journal of medical genetics.

[144]  N. Wald,et al.  Down's syndrome screening in the UK in 1998 , 1999, The Lancet.

[145]  R. Regan,et al.  Clinical studies on submicroscopic subtelomeric rearrangements: a checklist , 2001, Journal of medical genetics.