Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-848d4c4894-x24gv Total loading time: 0 Render date: 2024-05-01T17:30:59.445Z Has data issue: false hasContentIssue false

Section 1 - Understanding Intellectual Disability

Published online by Cambridge University Press:  14 January 2019

Edited by
Mark Scheepers  and
Mike Kerr
Mark Scheepers
Affiliation:
2gether NHS Trust
Mike Kerr
Affiliation:
Cardiff University
Get access
Type
Chapter
Information
Seminars in the Psychiatry of Intellectual Disability , pp. 1 - 52
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

References

American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (DSM-5®). American Psychiatric Publishing.Google Scholar
Bertelli, M., Hassiotis, A., Deb, S. et al. (2009) New contributions of psychiatric research in the field of intellectual disabilities. Advances in Psychiatry, 3, 37–43.Google Scholar
Bertelli, M., Munir, K., Harris, J. et al. (2016) ‘Intellectual developmental disorders’: Reflections on the international consensus document for redefining ‘mental retardation-intellectual disability’ in ICD-11. Advances in Mental Health and Intellectual Disabilities, 10(1), 1–23.Google Scholar
Bittles, A. H., Petterson, B. A., Sullivan, S. G. et al. (2002) The influence of intellectual disability on life expectancy. Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 57(7), M470–M472.Google Scholar
Buckles, J., Luckasson, R. & Keefe, E. (2013) A systematic review of the prevalence of psychiatric disorders in adults with intellectual disability 2003–2010. Journal of Mental Health Research in Intellectual Disabilities, 6(3), 181–207.Google Scholar
Buntinx, W. (2015) Adaptive behaviour and support needs. In The Handbook of Intellectual Disability and Clinical Psychology Practice (2nd edn) (eds. Carr, A., Linehan, C., O’Reilly, G. et al.), pp. 107–35. Routledge.Google Scholar
Bush, A. & Beail, N. (2004) Risk factors for dementia in people with Down syndrome: Issues in assessment and diagnosis. American Journal on Mental Retardation, 109(2), 83–97.Google Scholar
Chan, L., Doctor, J. N., Maclehose, R. F. et al. (1999) Do Medicare patients with disabilities receive preventative services? A population-based study. Archives of Physical and Medical Rehabilitation, 80(6), 642–6.Google Scholar
Cooper, S. A., Smiley, E., Morrison, J., et al. (2007) Mental ill-health in adults with intellectual disabilities: Prevalence and associated factors. British Journal of Psychiatry, 190(1), 27–35.Google Scholar
Cooper, S. A. & van der Speck, R. (2009) Epidemiology of mental ill health in adults with intellectual disabilities. Current Opinion in Psychiatry, 22(5), 431–6.Google Scholar
Dave, U., Shetty, N. & Mehta, L. (2005) A community genetics approach to population screening in India for mental retardation – A model for developing countries. Annals of human biology, 32(2), 195–203.Google Scholar
Devlieger, J. P. (2003) From ‘idiots’ to ‘person with mental retardation’. Defining differences in an effort to dissolve it. In Rethinking Disability: The Emergence of New Definitions, Concepts and Communities (eds. Devlieger, J. P., Rusch, R. & Pfeiffer, D.), pp. 169–188. Garant.Google Scholar
Devlieger, J. P., Rusch, F. & Pfeiffer, D. (2003) Rethinking Disability: The Emergence of New Definition, Concepts and Communities. Garant.Google Scholar
Doyle, A. & Carew, A. M. (2016) Annual Report of the National Intellectual Disability Database Committee 2015. Health Research Board.Google Scholar
Drum, C. E. (2009) Models and approaches to disability. In Disability and Public Health (eds. Drum, C. E., Krahn, G. L. & Bersani, H.), pp. 27–44. American Association on Intellectual and Developmental Disabilities.Google Scholar
Dykens, E. M. (1995) Measuring behavioural phenotypes: Provocations from the ‘new genetics’. American Journal on Mental Retardation, 99, 522–32.Google Scholar
Einfeld, S. L., Piccinin, A. M., Mackinnon, A. et al. (2006) Psychopathology in young people with intellectual disability. JAMA, 296(16), 1981–9.Google Scholar
Emerson, E. (2011) Health status and health risks of the ‘hidden majority’ of adults with intellectual disability. Intellectual and Developmental Disabilities, 49, 155–65.Google Scholar
Emerson, E. (2012) Deprivation, ethnicity and the prevalence of intellectual and developmental disabilities. Journal of Epidemiology and Community Health, 66(3), 218–24.Google Scholar
Emerson, E., Emerson, E. & Glover, G. (2012) The ‘transition cliff’ in the administrative prevalence of learning disabilities in England. Tizard Learning Disability Review, 17(3), 139–43.Google Scholar
Emerson, E. & Hatton, C. (2007) Poverty, socio‐economic position, social capital and the health of children and adolescents with intellectual disabilities in Britain: A replication. Journal of Intellectual Disability Research, 51(11), 866–74.Google Scholar
Farrington, D. & Welsh, B. (2007) Saving Children from a Life of Crime. Oxford University Press.Google Scholar
Felstrom, A., Mulryan, N., Reidy, J. et al. (2005) Refining diagnoses: Applying the DC‐LD to an Irish population with intellectual disability. Journal of Intellectual Disability Research, 49(11), 813–19.Google Scholar
Greenspan, S. (2003) Mental retardation: Some issues for concern. In What Is Mental Retardation? Ideas for an Evolving Disability (eds. Switzky, H. N. & Greenspan, S.), pp. 64–74. American Association on Mental Retardation.Google Scholar
Greenspan, S. (2006a) Functional concepts in mental retardation: Finding the natural essence of an artificial category. Exceptionality, 14, 205–24.Google Scholar
Greenspan, S. (2006b) Mental retardation in the real world: Why the AAMR definition is not there yet. In What Is Mental Retardation? Ideas for an Evolving Disability (eds. Switzky, H. N. & Greenspan, S.), pp. 165–83. American Association on Mental Retardation.Google Scholar
Grossman, H. J. (1983) Classification in Mental Retardation (rev. edn) American Association on Mental Deficiency.Google Scholar
Gustavsson, A., Svensson, M., Jacobi, F. et al. (2011) Cost of disorders of the brain in Europe 2010. European Neuropsychopharmacology, 21(10), 718–79.Google Scholar
Hassiotis, A. (2015) Borderline intellectual functioning and neurodevelopmental disorders: Prevalence, comorbidities and treatment approaches. Advances in Mental Health and Intellectual Disabilities, 9(5), 275–83.Google Scholar
Hatton, C. (2012) Intellectual Disabilities – Classification, epidemiology and causes. In Clinical Psychology and People with Intellectual Disabilities (2nd edn) (eds. Emerson, E., Hatton, C., Dickson, K. et al.), pp. 3–22. Wiley.Google Scholar
Havercamp, S. M. & Scott, H. M. (2015) National health surveillance of adults with disabilities, adults with intellectual and developmental disabilities, and adults with no disabilities. Disability and Health Journal, 8(2), 165–72.Google Scholar
Heber, R. (1959) A manual on terminology and classification in mental retardation: A monograph supplement to the American Journal on Mental Deficiency, 64.Google Scholar
Heikura, U., Taanila, A., Olsen, P. et al. (2003) Temporal changes in incidence and prevalence of intellectual disability between two birth cohorts in Northern Finland. American Journal on Mental Retardation, 108(1), 19–31.Google Scholar
Heslop, P., Blair, P. S., Fleming, P. et al. (2014) The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: A population-based study. The Lancet, 383(9920), 889–95.Google Scholar
Hodaoom, R. M., Burack, J. A. & Zigler, E. (1990) Issues in the Developmental Approach to Mental Retardation. Cambridge University Press.Google Scholar
Hollins, S. Attard, M., van Fraunhofer, N. et al. (1998) Mortality in people with learning disability: Risks causes, and death certification findings in London. Developmental Medicine and Child Neurology, 40, 50–6.Google Scholar
Iezzoni, L. I., McCarthy, E. P., Davis, R. B. et al. (2000) Mobility impairments and use of screening and preventative services. American Journal of Public Health, 90, 955–61.Google Scholar
Katusic, S. K., Colligan, R. C., Beard, C. M. et al. (1996) Mental retardation in a birth cohort, 1976–1980, Rochester, Minnesota. American Journal of Mental Retardation, 100(4), 335–44.Google Scholar
King, B. H., Toth, K. E., Hodapp, R. M. et al. (2009) Intellectual disability. In Kaplan and Sadock’s Comprehensive Textbook of Psychiatry (eds. Sadock, B. J., Sadock, V. A., Ruiz, P.), pp. 3444–74. Lippencott, Williams & Wilkins.Google Scholar
Krahn, G. L., Hammond, L. & Turner, A. (2006) A cascade of health disparities: Health and health care access for people with intellectual disabilities. Mental Retardation and Developmental Disabilities Research Reviews, 12, 70–82.Google Scholar
Leonard, H., Petterson, B., Bower, C. et al. (2003) Prevalence of intellectual disability in Western Australia. Paediatric and Perinatal Epidemiology, 17(1), 58–67.Google Scholar
Leonard, H. & Wen, X. (2002) The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Reviews, 8(3), 117–34.Google Scholar
McGuidan, S. M., Hollins, S., Attard, M. (1995) Age specific standardised mortality rates in people with learning disability. Journal of Intellectual Disability Research, 39, 527–31.Google Scholar
McKenzie, K., Milton, M., Smith, G. et al. (2016) Systematic review of the prevalence and incidence of intellectual disabilities: Current trends and issues. Current Developmental Disorders Reports, 3, 104–15.Google Scholar
McLaren, J. & Bryson, S. E. (1987) Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. American Journal on Mental Retardation, 92, 243–54.Google Scholar
Maulik, P. K. & Harbour, C. K. (2010) Epidemiology of intellectual disability. In International Encyclopedia of Rehabilitation (eds. Stone, J. H. & Blouin, M.) Center for International Rehabilitation Research Information and Exchange.Google Scholar
Maulik, P. K., Mascarenhas, M. N., Mathers, C. D. et al. (2011) Prevalence of intellectual disability: A meta-analysis of population-based studies. Research in Developmental Disabilities, 32, 419–36.Google Scholar
Morgan, V., Leonard, H, Bourke, J. et al. (2008) Intellectual disability co-occurring with schizophrenia and other psychiatric illness: Population-based study. British Journal of Psychiatry, 193(5), 364–72.Google Scholar
Parish, S. L., Seltzer, M. M., Greenberg, J. S. et al. (2004) Economic implications of caregiving at midlife: Comparing parents with and without children who have developmental disabilities. Mental Retardation, 42(6), 413–26.Google Scholar
Patja, K., Iivanainen, M., Vesala, H. et al. (2000) Life expectancy of people with intellectual disability: A 35‐year follow‐up study. Journal of Intellectual Disability Research, 44(5), 591–9.Google Scholar
Pedersen, C. B., Mors, O., Bertelsen, A. et al. (2014) A comprehensive nationwide study of the incidence rate and lifetime risk for treated mental disorders. JAMA Psychiatry, 71(5), 573–81.Google Scholar
Porta, M. (ed.) (2008) A Dictionary of Epidemiology. Oxford University Press.Google Scholar
Puri, B. K., Lekh, S. K., Langa, A. et al. (1995) Mortality in a hospitalised mentally handicapped population: A 10-year survey. Journal of Intellectual Disability Research, 39, 442–6.Google Scholar
Ramirez, A., Farmer, G. C., Grant, D. et al. (2005) Disability and preventive cancer screening: Results from the 2001 California Health Interview Survey. American Journal of Public Health, 95(11), 2057–64.Google Scholar
Rocca, W. A., Yawn, B. P., St. Sauver, J. L. et al. (2012) History of the Rochester Epidemiology Project: Half a century of medical records linkage in a US population. Mayo Clinic Proceedings, 87(12), 1202–13.Google Scholar
Salvador-Carulla, L., García-Gutiérrez, J. C., Gutiérrez-Colosía, M. R. et al. (2013) Borderline intellectual functioning: consensus and good practice guidelines. Revista de Psiquiatría y Salud Mental (English Edition), 6(3), 109–20.Google Scholar
Salvador-Carulla, L., Ruiz, M. & Nadal, M. (2011), Funcionamiento Intelectual Límite (FIL): Guía de Consenso y Buenas Prácticas, Obra Social Caja Madrid.Google Scholar
Schalock, R. L. (2013) Introduction to the intellectual disability construct. In The Story of Intellectual Disability: An Evolution of Meaning, Understanding, and Public Perception (ed. Wehmeyer, M. L.). Brookes.Google Scholar
Schalock, R. L., Borthwick-Duffy, S. A., Bradley, V. J. et al. (2010) Intellectual Disability: Definition, Classification, and Systems of Supports. American Association on Intellectual and Developmental Disabilities.Google Scholar
Shahtahmasebi, S., Emerson, E., Berridge, D. et al. (2011) Child disability and the dynamics of family poverty, hardship and financial strain: Evidence from the UK. Journal of Social Policy, 40(4), 653–73.Google Scholar
Simonoff, E. (2015) Intellectual disability. In Rutter’s Child and Adolescent Psychiatry (6th edn) (eds. Thapar, A., Pine, D. S., Leckman, J. F. et al.), pp. 719–37. Wiley-Blackwell.Google Scholar
Siperstein, G. N., Parker, R. C. & Drascher, M. (2013) National snapshot of adults with intellectual disabilities in the labor force. Journal of Vocational Rehabilitation, 39(3), 157–65.Google Scholar
Stein, Z., Belmont, L. & Durkin, M. (1987) Mild mental retardation and severe mental retardation compared: Experiences in eight less developed countries. Upsala Journal of Medical Sciences. Supplement, 44, 89–96.Google Scholar
Strydom, A., Hassiotis, A. & Livingston, G. (2005) Mental health and social care needs of older people with intellectual disabilities. Journal of Applied Research in Intellectual Disabilities, 18, 229–35.Google Scholar
Switzky, H. N. & Greenspan, S. (2006) What Is Mental Retardation? Ideas for an Evolving Disability in the 21st Century. American Association of Mental Retardation.Google Scholar
Tassé, M. J., Luckasson, R. & Schalock, R. L. (2016) The relation between intellectual functioning and adaptive behavior in the diagnosis of intellectual disability. Intellectual and Developmental Disabilities, 54(6), 381–90.Google Scholar
Thapar, A., Pine, D. S., Leckman, J. F. et al. (2015) Rutter’s Child and Adolescent Psychiatry. Wiley.Google Scholar
Thompson, J. R., Bradley, V. J., Buntinx, W. et al. (2009) Conceptualising supports and the support needs of people with intellectual disability. Intellectual and Developmental Disabilities, 47(2), 135–46.Google Scholar
Tyrer, F. & McGrother, C. (2009) Cause-specific mortality and death certificate reporting in adults with moderate to profound intellectual disabilities. Journal of Intellectual Disability Research, 53, 898–904.Google Scholar
Schrojenstein, Van, Lantman de Valk, H., Metsemakes, J., Haveman, M. et al. (2000) Health problems in people with intellectual disability in general practice: A comparative study. Family Practice, 17(5), 405–7.Google Scholar
Wells, T., Sandefur, G. D. & Hogan, D. P. (2003) What happens after the high school years among young persons with disabilities? Social Forces, 82, 803–32.Google Scholar
Whitehead, M. (1990) The Concepts and Principles of Equity in Health. World Health Organization.Google Scholar
WHO (1992) The ICD-10 Classification of Mental and Behavioural Disorders. Clinical Descriptions and Diagnostic Guidelines. World Health Organization.Google Scholar
WHO (2001) International Classification of Functioning, Disability and Health: ICF. World Health Organization.Google Scholar
Ziegler, E. (1967) Familial mental retardation: A continuing dilemma. Science, 155, 292–8.Google Scholar

References

Amir, R. E. et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185–8. doi: 10.1038/13810Google Scholar
Blau, N., Van Spronsen, F. J. & Levy, H. L. (2010) Phenylketonuria. The Lancet, 376(9750), 1417–27. doi: 10.1016/S0140-6736(10)60961-0Google Scholar
Butler, M. G. (2011) Prader–Willi syndrome: Obesity due to genomic imprinting, Current Genomics, 12(3), 204–15, doi: 10.2174/138920211795677877Google Scholar
Carter, N. (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nature Genetics, 39, S16–S21. doi: 10.1038/ng2028.MethodsGoogle Scholar
Cassidy, S. B. & Driscoll, D. J. (2009) Prader–Willi syndrome. European Journal of Human Genetics, 17(1), 3–13. doi: 10.1038/ejhg.2008.165Google Scholar
Cederbaum, S. (2002) Phenylketonuria: An update. Current Opinion in Pediatrics, 14(6), 702–6.Google Scholar
Chahrour, M. & Zoghbi, H. Y. (2007) The story of Rett syndrome: From clinic to neurobiology. Neuron, 56(3), 422–37. doi: 10.1016/j.neuron.2007.10.001Google Scholar
Coe, B. P. et al. (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics, 46(10). doi: 10.1038/ng.3092Google Scholar
Cooper, G. M. et al. (2011) A copy number variation morbidity map of developmental delay. Nature Genetics, 43(9), 838–46. doi: 10.1038/ng.909Google Scholar
Crawford, D. C., Acuña, J. M. & Sherman, S. L. (2001) FMR1 and the fragile X syndrome: human genome epidemiology review. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 3(5), 359–71. doi: 10.1097/00125817-200109000-00006Google Scholar
D’Angelo, D. et al. (2015) Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry, 10032, 1. doi: 10.1001/jamapsychiatry.2015.2123Google Scholar
Doherty, J. L. & Owen, M. J. (2014) Genomic insights into the overlap between psychiatric disorders: Implications for research and clinical practice. Genome Medicine, 6(4), 29. doi: 10.1186/gm546Google Scholar
Giaroli, G. et al. (2014) Does rare matter? Copy number variants at 16p11.2 and the risk of psychosis: A systematic review of literature and meta-analysis. Schizophrenia research, 159(2–3), 340–6. doi: 10.1016/j.schres.2014.09.025Google Scholar
Gilissen, C. et al. (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature, 511(7509), 344–7. doi: 10.1038/nature13394Google Scholar
Guy, J. et al. (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science, 315(5815), 1143–7. doi: 10.1126/science.1138389Google Scholar
Habel, A. et al. (2014) Towards a safety net for management of 22q11.2 deletion syndrome: Guidelines for our times. European Journal of Pediatrics, 173(6), 757–65. doi: 10.1007/s00431-013-2240-zGoogle Scholar
Hooper, S. R. et al. (2013) A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Research in Developmental Disabilities, 34(5), 1758–69. doi: 10.1016/j.ridd.2012.12.003Google Scholar
Horsler, K. & Oliver, C. (2006) The behavioural phenotype of Angelman syndrome. Journal of Intellectual Disability Research, 50(1), 33–53. doi: 10.1111/j.1365-2788.2005.00730.xGoogle Scholar
Iafrate, A. J. et al. (2004) Detection of large-scale variation in the human genome. Nature Genetics, 36(9), 949–51. doi: 10.1038/ng1416Google Scholar
Jacobs, P. A. & Strong, J. A. (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature, 183(4657), 302–3. Available at: www.ncbi.nlm.nih.gov/pubmed/13632697Google Scholar
Jamuar, S. S. et al. (2014) Somatic mutations in cerebral cortical malformations. New England Journal of Medicine, 371(8), 733–43. doi: 10.1056/NEJMoa1314432Google Scholar
Karmiloff-Smith, A. et al. (2016) The importance of understanding individual differences in Down syndrome. F1000Research, 5, 389. doi: 10.12688/f1000research.7506.1Google Scholar
Khwaja, O. S. et al. (2014) Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America, 111(12), 4596–601. doi: 10.1073/pnas.1311141111Google Scholar
Kirov, G. et al. (2014) The penetrance of copy number variations for schizophrenia and developmental delay. Biological Psychiatry, 75(5), 378–85. doi: 10.1016/j.biopsych.2013.07.022Google Scholar
LaFramboise, T. (2009) Single nucleotide polymorphism arrays: A decade of biological, computational and technological advances. Nucleic Acids Research, 37(13), 4181–93. doi: 10.1093/nar/gkp552Google Scholar
Ledbetter, D. H. et al. (1981) Deletions of chromosome 15 as a cause of the Prader–Willi syndrome. New England Journal of Medicine, 304(6), 325–9. doi: 10.1056/NEJM198102053040604Google Scholar
Lehner, T., Senthil, G. & Addington, A. M. (2014) Convergence of advances in genomics, team science, and repositories as drivers of progress in psychiatric genomics. Biological Psychiatry, 77(1), 6–14. doi: 10.1016/j.biopsych.2014.01.003Google Scholar
Lejeune, J. et al. (1959) Les chromosomes humains en culture de tissus. Comptes rendus hebdomadaires des séances de l’Académie des sciences, (248), 602–3.Google Scholar
Lejeune, J. et al. (1963) Ségrégation familiale d’une translocation 5–13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie du ‘cri du chat’ et sa ‘réciproque’. Comptes rendus hebdomadaires des séances de l’Académie des sciences, 257, 3098–102. Available at: www.ncbi.nlm.nih.gov/pubmed/14095841Google Scholar
Lubs, H. A., Stevenson, R. E. & Schwartz, C. E. (2012) Fragile X and X-linked intellectual disability: Four decades of discovery. American Journal of Human Genetics, 90(4), 579–90. doi: 10.1016/j.ajhg.2012.02.018Google Scholar
Lynch, M. (2010) Rate, molecular spectrum, and consequences of human mutation. Proceedings of the National Academy of Sciences, 107(3), 961–8. doi: 10.1073/pnas.0912629107Google Scholar
MacDonald, J. R. et al. (2014) The Database of Genomic Variants: A curated collection of structural variation in the human genome. Nucleic Acids Research, 42, D986–92. doi: 10.1093/nar/gkt958Google Scholar
McRae, J. F. et al. (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542(7642), 433–8. doi: 10.1038/nature21062Google Scholar
Miller, D. T. et al. (2010) Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86(5), 749–64. doi: 10.1016/j.ajhg.2010.04.006Google Scholar
Monks, S. et al. (2014) Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome. Schizophrenia Research, 153(1–3), 231–6. doi: 10.1016/j.schres.2014.01.020Google Scholar
Najmabadi, H. et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature, 478(7367), 57–63. doi: 10.1038/nature10423Google Scholar
Neul, J. L. & Zoghbi, H. Y. (2004) Rett Syndrome: A prototypical neurodevelopmental disorder. Neuroscientist, 10(2), 118–28. doi: 10.1177/1073858403260995Google Scholar
O’Donovan, M. C. & Owen, M. J. (2016) The implications of the shared genetics of psychiatric disorders. Nature Medicine, 22(11). doi: 10.1038/nm.4196Google Scholar
Ou, Z. et al. (2008) Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 10(4), 267–77. doi: 10.1097/GIM.0b013e31816b64c2Google Scholar
Palmer, E. et al. (2014) Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability. American Journal of Medical Genetics. Part A, 164A(2), 377–85. doi: 10.1002/ajmg.a.36279Google Scholar
Pelc, K., Cheron, G. & Dan, B. (2008) Behavior and neuropsychiatry manifestations in Angelman syndrome. Neuropsychiatric Disease and Treatment, 4(3), 577–84. doi: 10.2147/NDT.S2749Google Scholar
Pieretti, M. et al. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817–22. Available at: www.ncbi.nlm.nih.gov/pubmed/1878973Google Scholar
Portnoï, M. F. (2009) Microduplication 22q11.2: A new chromosomal syndrome. European Journal of Medical Genetics. Elsevier Masson SAS, 52(2–3), 88–93. doi: 10.1016/j.ejmg.2009.02.008Google Scholar
Redon, R. et al. (2006) Global variation in copy number in the human genome. Nature, 444(7118), 444–54. doi: 10.1038/nature05329Google Scholar
Rees, E. et al. (2014) Evidence that duplications of 22q11.2 protect against schizophrenia. Molecular Psychiatry, 19(1), 37–40. doi: 10.1038/mp.2013.156Google Scholar
Rees, E. et al. (2016) Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry, 73(9), 963–9. doi: 10.1001/jamapsychiatry.2016.1831Google Scholar
Rousseau, F. et al. (2011) The fragile X mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. Clinical Biochemist. Reviews, 32(3), 135–62. Available at: www.ncbi.nlm.nih.gov/pubmed/21912443Google Scholar
Schneider, M. et al. (2014) Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. American Journal of Psychiatry, 171(6), 627–39. doi: 10.1176/appi.ajp.2013.13070864Google Scholar
Scriver, C. R. (2007) The PAH gene, phenylketonuria, and a paradigm shift. Human Mutation, 28(9), 831–45. doi: 10.1002/humu.20526Google Scholar
Sebat, J. et al. (2004) Large-scale copy number polymorphism in the human genome. Science, 305(5683), 525–8. doi: 10.1126/science.1098918Google Scholar
Shprintzen, R. J. (2008) Velo-Cardio-Facial Syndrome: 30 years of study. Developmental Disabilities Research Reviews, 14(1), 3–10. doi: 10.1002/ddrr.2.Velo-Cardio-FacialGoogle Scholar
Sigafoos, J., O’Reilly, M. F. & Lancioni, G. E. (2009) Cri-du-chat. Developmental Neurorehabilitation, 12(3), 119–21. doi: 10.1080/17518420902975720Google Scholar
Tjio, J. H. & Levan, A. (1956) The chromosome number of man. Hereditas, 42, 1–6. doi: 10.1111/j.1601-5223.1956.tb03010.xGoogle Scholar
Van Buggenhout, G. & Fryns, J.-P. (2009) Angelman syndrome (AS, MIM 105830). European Journal of Human Genetics, 17(11), 1367–73. doi: 10.1038/ejhg.2009.67Google Scholar
Verri, A. et al. (2010) Klinefelter’s syndrome and psychoneurologic function. Molecular Human Reproduction, 16(6), 425–33. doi: 10.1093/molehr/gaq018Google Scholar
de Villiers, J. & Porteous, M. (2012) Genetic testing of adults with intellectual disability. Psychiatrist, 36(11), 409–13. doi: 10.1192/pb.bp.111.038216Google Scholar
Visootsak, J. & Graham, J. M. (2006) Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet Journal of Rare Diseases, 1, 42. doi: 10.1186/1750-1172-1-42Google Scholar
Vissers, L. E. et al. (2010) A de novo paradigm for mental retardation. 42(12), 1109–12. doi: 10.1038/ng.712Google Scholar
Vissers, L. E. L. M., Gilissen, C. & Veltman, J. A. (2015) Genetic studies in intellectual disability and related disorders. Nature Reviews Genetics, 17(1), 9–18. doi: 10.1038/nrg3999Google Scholar
Weiss, L. A. et al. (2008) Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine, 358(7), 667–75. doi: 10.1056/NEJMoa075974Google Scholar
Wiseman, F. K. et al. (2015) A genetic cause of Alzheimer disease: Mechanistic insights from Down syndrome. Nature Reviews Neuroscience, 16(9), 564–74. doi: 10.1038/nrn3983Google Scholar
Wolfe, K., Strydom, A. et al. (2017) Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. European Journal of Human Genetics: EJHG, 25(1), 66–72. doi: 10.1038/ejhg.2016.107Google Scholar
Wolfe, K., Stueber, K. et al. (2017) Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists. Journal of Applied Research in Intellectual Disabilities, 23, 1–12. doi: 10.1111/jar.12391Google Scholar
Zufferey, F. et al. (2012) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics, 49(10), 660–8. doi: 10.1136/jmedgenet-2012-101203Google Scholar

References

Akefeldt, A. (2009) Water intake and risk of hyponatraemia in Prader–Willi syndrome. Journal of Intellectual Disability Research, 53, 521–8.Google Scholar
Baieli, S., Pavone, L., Meli, C. et al. (2003) Autism and phenylketonuria. Journal of Autism and Developmental Disorders, 33(2), 201–4.Google Scholar
Baker, G. A., Bromley, R. L., Briggs, M. et al. (2015) IQ at 6 years after in utero exposure to antiepileptic drugs: A controlled cohort study. Neurology, 84(4), 382–90.Google Scholar
Bender, B. G., Puck, M. H., Salbenblatt, J. A. et al. (1986) Dyslexia in 47, XXXY boys identified at birth. Behavior genetics, 16(3), 343–54.Google Scholar
Boyle, L. & Kaufmann, W. E. (2010) The behavioral phenotype of FMR1 mutations. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 154C, 469–76.Google Scholar
Budimirovic, D. B. & Kaufmann, W. E. (2011) What can we learn about Autism from studying fragile X syndrome? Developmental Neuroscience, 33, 379–94.Google Scholar
Cebula, K. R., Moore, D. G. & Wishart, J. G. (2010) Social cognition in children with Down’s syndrome: Challenges to research and theory building. Journal of Intellectual Disability Research, 54(2), 113–34.Google Scholar
Christensen, J., Grønborg, T. K., Sørensen, M. J. et al. (2013) Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. Jama, 309(16), 1696–1703.Google Scholar
Clayton-Smith, J. (2001) Angelman syndrome: Evolution of the phenotype in adolescents and adults. Developmental Medicine and Child Neurology, 43, 476–80.Google Scholar
Clifford, S., Dissanayake, C., Bui, Q. et al. (2007) Autism spectrum phenotype in males and females with fragile X full mutation and permutation. Journal of Autism Development Disorders, 37, 738–47.Google Scholar
Cornish, K., Turk, J. & Hagerman, R. (2008) The fragile X continuum: New advances and perspectives. Journal of Intellectual Disability Research, 52(6), 469–82.Google Scholar
Curatolo, P., D’Argenzio, L., Pinci, M. et al. (2008) Behavioural and cognitive phenotypes in tuberous sclerosis complex. European Journal of Paediatric Neurology, 12(suppl. 1), S4.Google Scholar
Daunhauer, L. & Fidler, D. (2011) The Down syndrome behavioural phenotype: Implications for practice and research in occupational therapy. Occupational Therapy in Health Care, 25(1), 7–25.Google Scholar
de Vries, P. Humphrey, A., McCartney, D. et al. (2005) Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. European Child and Adolescent Psychiatry, 14 (4) 183–90.Google Scholar
Fletcher, R, Loschen, E., Stavrakaki, C. et al. (2007) Diagnostic Manual – Intellectual Disability: A Textbook of Diagnosis of Mental Disorders in Persons with Intellectual Disability. Nadd Press.Google Scholar
Ganthous, G. and Rossi, N. F. & Giacheti, G. (2015) Language in fetal alcohol spectrum disorder: A review. Revista CEFAC, 17(1), 253–63.Google Scholar
Ghazziuddin, M., Tsai, L. Y. & Ghazziuddin, N. (1992) Autism in Down’s syndrome: Presentation and diagnosis. Journal of Intellectual Disability Research, 36, 449–56.Google Scholar
Gilbert, P. (2013) The A–Z Reference Book of Syndromes and Inherited Disorders. Springer.Google Scholar
Holland, A. J., Whittington, J. E., Butler, J. et al. (2003) Behavioural phenotypes associated with specific genetic disorders: Evidence from a population-based study of people with Prader–Willi syndrome. Psychological Medicine, 33, 141–53.Google Scholar
Howlin, P. & Udwin, O. (eds.) (2002), Outcomes in Neurodevelopmental and Genetic Disorders. Cambridge University Press.Google Scholar
Koren, G., Zelner, I., Nash, K. et al. (2014) Foetal alcohol spectrum disorder. Current Opinion in Psychiatry, 27(2), 98.Google Scholar
Moore, S., Turnpenny, P, Quinn, A. et al. (2000). A clinical study of 57 children with fetal anticonvulsant syndromes. Journal of Medical Genetics, 37(7), 489–97.Google Scholar
Morris, C. A. (2010) The behavioural phenotype of Williams syndrome: A recognizable pattern of neurodevelopment. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 154C, 427–31.Google Scholar
O’Brien, G. (2002) Behavioural Phenotypes in Clinical Practice. No. 157. Cambridge University Press.Google Scholar
O’Brien, G., Pearson, J., Berney, T. et al. (2001) Measuring behaviour in developmental disability: A review of existing schedules. Developmental Medicine & Child Neurology, 43(suppl. 87), 1–70Google Scholar
Parisi, L., Di Filippo, T. & Roccella, M. (2015) Behavioural phenotype and autism spectrum disorders in Cornelia de Lange syndrome. Mental illness, 7(2), 5988.Google Scholar
Rosner, B., Hodapp, R., Fidler, D. et al. (2004) Social competence in persons with Prader–Willi, Williams and Down’s syndromes. Journal of Applied Research in Intellectual Disabilities, 17, 209–17.Google Scholar
Ross, J. L., Roeltgen, D. P., Kushner, H. et al. (2012) Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics, 129(4), 769–78.Google Scholar
Rovet, J. & Ireland, L. (1994) Behavioral phenotype in children with Turner syndrome. Journal of Pediatric Psychology, 19(6), 779–90.Google Scholar
Samango‐Sprouse, C., Stapleton, E. J., Lawson, P. et al. (2015). Positive effects of early androgen therapy on the behavioral phenotype of boys with 47, XXY. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 169(2), 150–7.Google Scholar
Sinnema, M., Einfeld, S. L., Schrander-Stumpel, C. T. R. M. et al. (2011) Behavioural phenotype in adults with Prader–Willi syndrome. Research in Developmental Disabilities, 32, 604–12.Google Scholar
Skuse, D. H., James, R. S., Bishop, D. V. et al. (1997). Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature, 387, 705–8.Google Scholar
Smith, L. E., Barker, E. T., Mailick Seltzer, M. et al. (2012) Behavioral phenotype of fragile X syndrome in adolescence and adulthood. American Journal on Intellectual and Developmental Disabilities, 117, 1–17.Google Scholar
Steinhausen, H. C., Willms, J., Winkler, C. et al. (2003) Behavioural phenotype in foetal alcohol syndrome and foetal alcohol effects. Developmental Medicine & Child Neurology, 45 179–82.Google Scholar
Tartaglia, N., Cordeiro, L., Howell, S. et al. (2010) The spectrum of the behavioral phenotype in boys and adolescents 47, XXY (Klinefelter syndrome). Pediatric Endocrinology Reviews, 8(01), 151.Google Scholar
Taylor, L. & Oliver, C. (2008) The behavioural phenotype of Smith–Magenis syndrome: Evidence for a gene–environment interaction. Journal of Intellectual Disability Research, 52(10), 830–41.Google Scholar
Tomson, T. & Battino, D. (2008) Teratogenic effects of antiepileptic drugs. Seizure, 17(2), 166–71.Google Scholar
Torres, R. J., Puig, J. G. & Jinnah, H. A. (2012) Update on the phenotypic spectrum of Lesch–Nyhan disease and its attenuated variants. Current Rheumatology Reports, 14(2), 189–94.Google Scholar
Triantafyllou, P., Katzos, G., Rousso, I. et al. (2015) Neurophysiologic evaluation of infants with congenital hypothyroidism before and after treatment. Acta Neurologica Belgica, 115(2), 129–36.Google Scholar
van Rijn, S., Stockmann, L., Borghgraef, M. et al. (2014) The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and trisomy X): A comparison with autism spectrum disorder. Journal of Autism and Developmental Disorders, 44(2), 310–20.Google Scholar
Vinten, J., Bromley, R. L., Taylor, J. et al. (2008) The behavioral consequences of exposure to antiepileptic drug in utero. Epilepsy & Behavior, 14(1), 197–201.Google Scholar
Williams, C. A. (2010) The behavioural phenotype of the Angelman syndrome. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 154C, 432–7.Google Scholar
Wulffaert, J., Berckelaer-Onnes, I., Kroonenberg, P. et al. (2009) Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 53, 604–19.Google Scholar
Wyper, K. R. & Rasmussen, C. R. (2011) Language impairments in children with fetal alcohol spectrum disorders. Journal of Population Therapeutics and Clinical Pharmacology, 18(2), e364–e376.Google Scholar
Zarcone, J., Napolitano, D., Peterson, C. et al. (2007) The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader–Willi syndrome. Journal of Intellectual Disability Research, 51, 478–87.Google Scholar

References

Berko Gleason, J. (1997) The Development of Language (4th edn). Allyn & Bacon.Google Scholar
de Villiers, J. & de Villiers, P. (1973) A cross-sectional study of the acquisition of grammatical morphemes in child speech. Journal of Psycholinguistic Research, 2(3), 267–78.Google Scholar
I CAN (2016) Speech sounds factsheet. Available at: www.ican.org.uk/~/media/Ican2/What%20We%20Do/Enquiry%20Service/Speech%20Sounds%20factsheet.ashx [accessed 2 January 2017]Google Scholar
NHS England (2015) Accessible Information Standard. Available at: www.england.nhs.uk/ourwork/accessibleinfo [accessed 30 September 2016].Google Scholar
Ockelford, A. (1994) Objects of Reference. RNIB.Google Scholar
Pyramid Educational Consultants (2016) Picture Exchange Communication System. Available at: www.pecs-unitedkingdom.com/pecs.php [accessed 5 December 2016].Google Scholar
Royal College of Speech and Language Therapists (2010)Adults with learning disabilities: Position paper. Available at: www.rcslt.org/members/publications/ald_position_paper [accessed 01 December 2017].Google Scholar
Royal College of Speech and Language Therapists (2013a) Five Good Communication Standards. RCSLT.Google Scholar
Royal College of Speech and Language Therapists (2013b) Five Good Communication Standards: Reasonable Adjustments that Individuals with Learning Disability and/or Autism Should Expect in Specialist Hospital and Residential Settings, RCSLT.Google Scholar

Further Reading

Bondy, A. and Frost, L. (1994) The Picture Exchange Communication System. Focus on Autistic Behaviour, 9(3), 1–19.Google Scholar
Department of Health (2009) Basic Guidelines for People Who Commission Easy Read Information. Department of Health.Google Scholar
Gloucestershire Total Communication (2005) Total communication. Available at: www.totalcommunication.org.uk [accessed 10 December 2016].Google Scholar
Halpern, H. and Goldfarb, R. (2012) Language and Motor Speech Disorders in Adults (3rd edn). Jones and Bartlett Learning.Google Scholar
Makaton (2017) About Makaton. Available at: www.makaton.org [accessed 10 December 2016].Google Scholar
Royal College of Speech and Language Therapists (2016) Inclusive communication and the role of speech and language therapy. Available at: www.rcslt.org/cq_live/resources_a_z/docs/inclusive/ICposition_paper [accessed 10 December 2016].Google Scholar
Signalong Group (2017) Signalong. Available at: www.signalong.org.uk [accessed 11 December 2016].Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×