Intellectual Disability

"Intellectual Disability" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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)

Descriptor ID	D008607
MeSH Number(s)	C10.597.606.643 C23.888.592.604.646 F01.700.687 F03.625.539
Concept/Terms	Intellectual Disability Intellectual Disability Disabilities, Intellectual Intellectual Disabilities Retardation, Mental Mental Retardation Disability, Intellectual Intellectual Development Disorder Development Disorder, Intellectual Development Disorders, Intellectual Disorder, Intellectual Development Disorders, Intellectual Development Intellectual Development Disorders Idiocy Idiocy Mental Retardation, Psychosocial Mental Retardation, Psychosocial Mental Retardations, Psychosocial Psychosocial Mental Retardation Psychosocial Mental Retardations Retardation, Psychosocial Mental Retardations, Psychosocial Mental Deficiency, Mental Deficiency, Mental Deficiencies, Mental Mental Deficiencies Mental Deficiency

Below are MeSH descriptors whose meaning is more general than "Intellectual Disability".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Pathological Conditions, Signs and Symptoms [C23]
Signs and Symptoms [C23.888]
Neurologic Manifestations [C23.888.592]
Neurobehavioral Manifestations [C23.888.592.604]
Intellectual Disability [C23.888.592.604.646]
Psychiatry and Psychology [F]
Behavior and Behavior Mechanisms [F01]
Neurobehavioral Manifestations [F01.700]
Intellectual Disability [F01.700.687]
Mental Disorders [F03]
Neurodevelopmental Disorders [F03.625]
Intellectual Disability [F03.625.539]

Below are MeSH descriptors whose meaning is more specific than "Intellectual Disability".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Intellectual Disability" by people in this website by year, and whether "Intellectual Disability" was a major or minor topic of these publications.

Bar chart showing 344 publications over 30 distinct years, with a maximum of 34 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1991	3	1	4
1992	1	3	4
1993	2	0	2
1994	2	3	5
1995	3	0	3
1996	6	1	7
1997	1	1	2
1998	5	0	5
1999	2	2	4
2000	5	0	5
2001	3	2	5
2002	7	2	9
2003	5	2	7
2004	3	4	7
2005	8	4	12
2006	6	4	10
2007	12	5	17
2008	5	3	8
2009	7	3	10
2010	8	4	12
2011	6	3	9
2012	15	13	28
2013	13	6	19
2014	11	1	12
2015	13	0	13
2016	24	5	29
2017	17	5	22
2018	19	7	26
2019	24	10	34
2020	8	6	14

Below are the most recent publications written about "Intellectual Disability" by people in Profiles.

Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.

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Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.

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Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. Am J Hum Genet. 2020 09 03; 107(3):564-574.

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Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020 09 03; 107(3):544-554.

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Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.

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Sánchez Fernández I, Abend NS, Amengual-Gual M, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein J, Goodkin HP, Guerriero RM, Lai YC, McDonough T, Mikati MA, Morgan LA, Novotny E, Payne E, Peariso K, Piantino J, Ostendorf A, Sands TT, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T. Association of guideline publication and delays to treatment in pediatric status epilepticus. Neurology. 2020 09 01; 95(9):e1222-e1235.

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Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.

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Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376.

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Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437.

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Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31.

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