intellectual disability


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 has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Top Publications

  1. Dassie Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, et al. Novel B3GALTL mutation in Peters-plus Syndrome. Clin Genet. 2009;76:490-2 pubmed publisher
  2. Minnerop M, Kurzwelly D, Wagner H, Soehn A, Reichbauer J, Tao F, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140:1561-1578 pubmed publisher
    ..Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome. ..
  3. Gertsch E, Kirmani S, Ackerman M, Babovic Vuksanovic D. Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2010;152A:2379-82 pubmed publisher
  4. Kleefman M, Jansen D, Stewart R, Reijneveld S. The effectiveness of Stepping Stones Triple P parenting support in parents of children with borderline to mild intellectual disability and psychosocial problems: a randomized controlled trial. BMC Med. 2014;12:191 pubmed publisher
    Children with borderline to mild intellectual disability (BMID) have been shown to be at increased risk for psychosocial problems. The presence of these psychosocial problems leads to parenting stress...
  5. Murakami Y, Kinoshita T. [Inherited GPI deficiency; a new disease with intellectual disability and epilepsy]. Nihon Rinsho. 2015;73:1227-37 pubmed
    Recently, many cases of inherited GPI deficiency(IGD) are found among individuals with intellectual disability and intractable seizures. To date, about twenty patients have been reported in Japan and up to a hundred in the world...
  6. Prchalová D, Havlovicova M, Sterbova K, Stránecký V, Hancarova M, Sedlacek Z. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. BMC Med Genet. 2017;18:62 pubmed publisher
    ..We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy ..
  7. Gothwal V, Sumalini R, Narasaiah A, Panda S. Vision Profile and Ocular Characteristics of Special Olympics Athletes: Report from India. Ophthalmic Epidemiol. 2017;24:274-280 pubmed publisher
    Previous reports, albeit isolated, of vision and ocular screening of athletes with intellectual disability participating in the Special Olympics, UK, indicated high rates of refractive error and ocular morbidity; however, there have been ..
  8. Lin A, Siebert J, Graham J. Central nervous system malformations in the CHARGE association. Am J Med Genet. 1990;37:304-10 pubmed
    ..This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association...
  9. Jancar J. Sixty years of Stoke Park Hospital (1909-1969). Bristol Med Chir J. 1969;84:77-96 pubmed

More Information


  1. Wang Z, Guo C, Chen G, Zhang L, Wen X, Zheng X. Mutual associations between intellectual disability and epilepsy-related psychiatry disability: Population-based study. Medicine (Baltimore). 2017;96:e6831 pubmed publisher
    Epilepsy is the third-leading cause of psychiatry disability in China, and intellectual disability (ID) is also 1 major type of disabilities in China...
  2. Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini G, et al. Reduced steroidogenesis in patients with PCDH19-female limited epilepsy. Epilepsia. 2017;58:e91-e95 pubmed publisher
    ..These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19-FE. Some of these defects could be addressed by stimulating adrenocortical activity. ..
  3. Dlugacz H, Droubi L. The Reach and Limitation of the ADA and its Integration Mandate: Implications for the Successful Reentry of Individuals with Mental Disabilities in a Correctional Population. Behav Sci Law. 2017;35:135-161 pubmed publisher
    ..Copyright © 2017 John Wiley & Sons, Ltd. ..
  4. Costello H, Moss S, Prosser H, Hatton C. Reliability of the ICD 10 version of the Psychiatric Assessment Schedule for Adults with Developmental Disability (PAS-ADD). Soc Psychiatry Psychiatr Epidemiol. 1997;32:339-43 pubmed
    ..This was probably due mainly to the increase in the severity categories from three to four. However, the new items (most of which related to psychosis) were of comparable reliability to other items. ..
  5. Budisteanu M, Papuc S, Tutulan Cunita A, Budisteanu B, Arghir A. Novel clinical finding in MECP2 duplication syndrome. Eur Child Adolesc Psychiatry. 2011;20:373-5 pubmed publisher
  6. Coutinho E, Jacobson L, Pedersen M, Benros M, Nørgaard Pedersen B, Mortensen P, et al. CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism. J Neurol Neurosurg Psychiatry. 2017;88:718-721 pubmed publisher
    ..These findings complement the known roles of CASPR2 in brain development, and warrant further epidemiological and experimental studies to clarify the role of CASPR2 and possibly other antibodies in neurodevelopmental disorders. ..
  7. Sahin Y, Kiper P, Alanay Y, Liehr T, Utine G, Boduroglu K. Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report. Clin Dysmorphol. 2014;23:147-51 pubmed publisher
  8. Grau C, Starkovich M, Azamian M, Xia F, Cheung S, Evans P, et al. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS ONE. 2017;12:e0175962 pubmed publisher
    ..for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, ..
  9. Gabriele M, Vulto van Silfhout A, Germain P, Vitriolo A, Kumar R, Douglas E, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-925 pubmed publisher
    ..Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators. ..
  10. Netzer C, Klein C, Kohlhase J, Kubisch C. New challenges for informed consent through whole genome array testing. J Med Genet. 2009;46:495-6 pubmed publisher
  11. Burd L, Christensen T. Treatment of fetal alcohol spectrum disorders: are we ready yet?. J Clin Psychopharmacol. 2009;29:1-4 pubmed publisher
  12. Goldberg T. On hermetic reading abilities. J Autism Dev Disord. 1987;17:29-44 pubmed
    ..The deficit in procedures is reflected in the difficulties savants have with routinized activities and in a dissociation of accessible knowledge from action. A disconnected declarative system manifests itself in the savant skill. ..
  13. Carey J. Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability. Am J Med Genet A. 2011;155A:2905 pubmed publisher
  14. Mayo S, Garin I, Monfort S, Roselló M, Orellana C, Oltra S, et al. Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features. J Hum Genet. 2012;57:153-6 pubmed publisher
  15. Allen A, Cossette P, Delanty N, Eichler E, Goldstein D, Han Y, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217-21 pubmed publisher
    ..Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P?<?10(-8)), as has been reported previously for autism spectrum disorders. ..
  16. Kim J, Kang H, Cho J, Lee J, Kim H, Im C. Combined use of multiple computational intracranial EEG analysis techniques for the localization of epileptogenic zones in Lennox-Gastaut syndrome. Clin EEG Neurosci. 2014;45:169-78 pubmed
    ..A combination of multiple iEEG analyses could not only enhance overall accuracy of localizing epileptogenic zones in LGS, but also has the potential to predict outcomes before resective surgery. ..
  17. Biancalana V, Taine L, Bouix J, Finck S, Chauvin A, De Verneuil H, et al. Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet. 1996;59:847-54 pubmed
    ..Our results suggest that the threshold of repeat length for abnormal methylation and fragile-site expression may be smaller at FRAXE than at FRAXA. ..
  18. Bhattacharyya R, Tan A, Chan M, Jamuar S, Foo R, Iyer P. TCR ?? and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. Bone Marrow Transplant. 2016;51:753-4 pubmed publisher
  19. Lessel D, Schob C, Küry S, Reijnders M, Harel T, Eldomery M, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017;101:716-724 pubmed publisher
    ..missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities...
  20. Raikhelkar J, Anyanwu A, Gist R, Somal J, Mechanick J, Scher C, et al. Pheochromocytoma presenting as severe biventricular failure requiring insertion of a biventricular assist device. J Cardiothorac Vasc Anesth. 2010;24:985-7 pubmed publisher
  21. Jancar J. Paroxysmal tachycardia, epilepsy, fragilitas ossium, and mental retardation. Bristol Med Chir J. 1969;84:17-8 pubmed
  22. Myers K, Mandelstam S, Ramantani G, Rushing E, de Vries B, Koolen D, et al. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia. 2017;58:1085-1094 pubmed publisher
    ..epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21...
  23. Schaefer G, Bodensteiner J, Buehler B, Lin A, Cole T. The neuroimaging findings in Sotos syndrome. Am J Med Genet. 1997;68:462-5 pubmed
    ..The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly. ..
  24. Martínez P, Blasco M. Telomere-driven diseases and telomere-targeting therapies. J Cell Biol. 2017;216:875-887 pubmed publisher
    ..Here we review the molecular mechanisms underlying telomere-driven diseases and highlight recent advances in the preclinical development of telomere-targeted therapies using mouse models. ..
  25. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl. 1959;164:1-147 pubmed
  26. Lutz C. Stereotypic behavior in nonhuman primates as a model for the human condition. ILAR J. 2014;55:284-96 pubmed publisher
    ..nonhuman primates may serve as a better model for stereotyped behavior in individuals with autism or intellectual disability than for compulsions in individuals with obsessive-compulsive disorder...
  27. Józefczuk J, Kasprzycka W, Czarnecki R, Graczyk A, Józefczuk P, Krzysztof M, et al. Bioelements in hair of children with selected neurological disorders. Acta Biochim Pol. 2017;64:279-285 pubmed publisher
    ..A high concentration of Ca in girls with cerebral palsy requires separate analysis. The obtained results could be useful as guidance in the direction and determination of the amount of possible patient nutritional supplementation. ..
  28. Gao Y, Stejskal D, Jiang F, Wang W. False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism. Ultrasound Obstet Gynecol. 2014;43:477-8 pubmed publisher
  29. Jordan S. Cardiac lesions in children with "hypercalcaemic" facies. Bristol Med Chir J. 1969;84:121-3 pubmed
  30. Dentici M, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, et al. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. Gene. 2017;628:141-145 pubmed publisher
    ..Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia...
  31. Perez Y, Shorer Z, Liani Leibson K, Chabosseau P, Kadir R, Volodarsky M, et al. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017;140:928-939 pubmed publisher
    ..Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal...
  32. Moscovich M, Ledoux M, Xiao J, Rampon G, Vemula S, Rodriguez R, et al. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013;14:70 pubmed publisher
    ..No pathogenic mutations were identified in BRCA1 or BRCA2. Overexpression of TFDP1 has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient. ..
  33. Rees J. A dental surgical unit for the mentally handicapped. Bristol Med Chir J. 1974;89:5-6 pubmed
  34. Glick M, Zigler E. Developmental differences in the symptomatology of psychiatric inpatients with and without mild mental retardation. Am J Ment Retard. 1995;99:407-17 pubmed
    ..All hypotheses were confirmed. ..
  35. Bassett A, Lowther C, Merico D, Costain G, Chow E, Van Amelsvoort T, et al. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017;174:1054-1063 pubmed publisher
    ..The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia. ..
  36. Lyall K, Croen L, Weiss L, Kharrazi M, Traglia M, DeLorenze G, et al. Prenatal Serum Concentrations of Brominated Flame Retardants and Autism Spectrum Disorder and Intellectual Disability in the Early Markers of Autism Study: A Population-Based Case-Control Study in California. Environ Health Perspect. 2017;125:087023 pubmed publisher
    ..exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID)...
  37. Field H, Waldfogel S. Severe ocular self-injury. Gen Hosp Psychiatry. 1995;17:224-7 pubmed
    ..Two-thirds of the patients were confined at the time of the act. That self-mutilation may occur frequently in confined patients calls for active vigilance from caretakers; that it may recur calls for caution by the psychiatrist. ..
  38. Peng H, Hu B, Shi Q, Ratcliffe M, Zhao Q, Qi Y, et al. Removal of ocular artifacts in EEG--an improved approach combining DWT and ANC for portable applications. IEEE J Biomed Health Inform. 2013;17:600-7 pubmed
    ..The results show that the proposed model is effective in removing OAs and meets the requirements of portable systems used for patient monitoring as typified by the OPTIMI project. ..
  39. Blasi V, Baglio G, Baglio F, Canevini M, Zanette M. Movement cognition and narration of the emotions treatment versus standard speech therapy in the treatment of children with borderline intellectual functioning: a randomized controlled trial. BMC Psychiatry. 2017;17:146 pubmed publisher
  40. Shaughnessy T, Parker F, Hollenshead J, Clottey E, Rubin H. Contemporary Data and Trends in the Economic Costs of Mental Disabilities. Behav Sci Law. 2017;35:162-177 pubmed publisher
    ..Copyright © 2017 John Wiley & Sons, Ltd. ..
  41. Bonneau D, Colin E, Oca F, Ferre M, Chevrollier A, Gueguen N, et al. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. 2014;137:e301 pubmed publisher
  42. Seltzer L, Paciorkowski A. Genetic disorders associated with postnatal microcephaly. Am J Med Genet C Semin Med Genet. 2014;166C:140-55 pubmed publisher
    ..This is an emerging group of disorders with a fascinating combination of brain malformations, specific epilepsies, movement disorders, and other complex neurobehavioral abnormalities. ..
  43. Wisniewski L, Hassold T, Heffelfinger J, Higgins J. Cytogenetic and clinical studies in five cases of inv dup(15). Hum Genet. 1979;50:259-70 pubmed
    ..A maternal origin was indicated in two cases, and parental ages were distinctly elevated. ..
  44. DeVilbiss E, Magnusson C, Gardner R, Rai D, Newschaffer C, Lyall K, et al. Antenatal nutritional supplementation and autism spectrum disorders in the Stockholm youth cohort: population based cohort study. BMJ. 2017;359:j4273 pubmed publisher
    ..during pregnancy is associated with a reduced risk of autism spectrum disorder (ASD) with and without intellectual disability in offspring...
  45. Jancar J, Welfare R. Diabetes mellitus and mental handicap--a preliminary report. Bristol Med Chir J. 1986;101:82 pubmed
  46. Tenorio J, Arias P, Martinez Glez V, Santos F, Garcia Minaur S, Nevado J, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. 2014;9:138 pubmed publisher
    ..b>Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number ..
  47. Marino B, Lipkin P, Newburger J, Peacock G, Gerdes M, Gaynor J, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012;126:1143-72 pubmed
  48. Bostwick B, McLean S, Posey J, Streff H, Gripp K, Blesson A, et al. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9:73 pubmed publisher
    ..Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified. ..
  49. Singh T, Walters J, Johnstone M, Curtis D, Suvisaari J, Torniainen M, et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet. 2017;49:1167-1173 pubmed publisher
    ..In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
  50. Liu J, Hsu R, Chang F, Yeh C, Huang C, Chang S, et al. Increase the risk of intellectual disability in children with scabies: A nationwide population-based cohort study. Medicine (Baltimore). 2017;96:e7108 pubmed publisher
    ..The overall incidences of PDC are similar but patients with scabies had a higher risk of developing intellectual disability (ID) (scabies group vs control group: 1.3% vs 0.6%, adjusted hazard ratio: 2...
  51. Chelban V, Patel N, Vandrovcova J, Zanetti M, Lynch D, Ryten M, et al. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017;100:969-977 pubmed publisher
    ..Our results support a non-redundant developmental role of NKX6-2 in humans and imply that NKX6-2 mutations should be considered in the differential diagnosis of spastic ataxia and hypomyelination. ..
  52. Kawasaki Y, Yokota K, Shinomiya M, Shimizu Y, Niwa S. Brief report: electroencephalographic paroxysmal activities in the frontal area emerged in middle childhood and during adolescence in a follow-up study of autism. J Autism Dev Disord. 1997;27:605-20 pubmed
  53. Baker K, Gordon S, Grozeva D, van Kogelenberg M, Roberts N, Pike M, et al. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest. 2015;125:1670-8 pubmed publisher