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Mental Retardation

MedGen UID:: 7544
•Concept ID:: C0025362
•: Mental or Behavioral Dysfunction

Synonym:

Mental retardation

Definition

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMental Retardation

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Pediatric Disorder
      - Developmental disorder
        Mental Retardation
        ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
        Alpha thalassemia-X-linked intellectual disability syndrome
        Borjeson-Forssman-Lehmann syndrome
        Christianson syndrome
        Intellectual disability, autosomal dominant 1
        Intellectual disability, autosomal dominant 5
        Intellectual disability, autosomal dominant 39
        Intellectual disability, autosomal recessive 34
        Intellectual disability, X-linked 1
        Mental Retardation, Autosomal Dominant 40
        Mental Retardation, X-linked 102
        Mental Retardation, X-linked 21/34
        Renpenning syndrome
        Hamel cerebro-palato-cardiac syndrome
        X-linked intellectual disability, Golabi-Ito-hall type
        X-linked intellectual disability, Porteous type
        X-linked intellectual disability, Sutherland-Haan type
        Severe intellectual disability-progressive spastic diplegia syndrome
        Syndromic X-linked intellectual disability Lubs type
        X-linked intellectual disability Cabezas type

Professional guidelines

PubMed

Joubert syndrome: Molecular basis and treatment.

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942 Free PMC Article

Neonatal Thyroid Disease: Testing and Management.

Kaplowitz PB
Pediatr Clin North Am 2019 Apr;66(2):343-352. Epub 2019 Jan 28 doi: 10.1016/j.pcl.2018.12.005. PMID: 30819341

Sialorrhea: a management challenge.

Hockstein NG, Samadi DS, Gendron K, Handler SD
Am Fam Physician 2004 Jun 1;69(11):2628-34. PMID: 15202698

See all (700)

Recent clinical studies

Etiology

Epigenetic mechanisms of mental retardation.

Schaefer A, Tarakhovsky A, Greengard P
Prog Drug Res 2011;67:125-46. doi: 10.1007/978-3-7643-8989-5_7. PMID: 21141728

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

X-linked mental retardation.

Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887

Fragile X and reproduction.

Martin JR, Arici A
Curr Opin Obstet Gynecol 2008 Jun;20(3):216-20. doi: 10.1097/GCO.0b013e3282fe7254. PMID: 18460934

The genetics of mental retardation.

Thapar A, Gottesman II, Owen MJ, O'Donovan MC, McGuffin P
Br J Psychiatry 1994 Jun;164(6):747-58. doi: 10.1192/bjp.164.6.747. PMID: 7952981

See all (7014)

Diagnosis

Baraitser-Winter cerebrofrontofacial syndrome.

Yates TM, Turner CL, Firth HV, Berg J, Pilz DT
Clin Genet 2017 Jul;92(1):3-9. Epub 2016 Nov 30 doi: 10.1111/cge.12864. PMID: 27625340

X-linked mental deficiency.

des Portes V
Handb Clin Neurol 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X. PMID: 23622180

XLMR genes: update 2007.

Chiurazzi P, Schwartz CE, Gecz J, Neri G
Eur J Hum Genet 2008 Apr;16(4):422-34. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201994. PMID: 18197188

X-linked mental retardation.

Ropers HH, Hamel BC
Nat Rev Genet 2005 Jan;6(1):46-57. doi: 10.1038/nrg1501. PMID: 15630421

Mental retardation.

Batshaw ML
Pediatr Clin North Am 1993 Jun;40(3):507-21. doi: 10.1016/s0031-3955(16)38547-9. PMID: 8493062

See all (8766)

Therapy

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.

Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A
JAMA Neurol 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850 Free PMC Article

Congenital Hypothyroidism.

Al-Qahtani M
J Matern Fetal Neonatal Med 2022 Oct;35(19):3761-3769. Epub 2020 Oct 28 doi: 10.1080/14767058.2020.1838480. PMID: 33115295

Wilson disease.

Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896

Thyroid Hormone Transporters.

Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE
Endocr Rev 2020 Apr 1;41(2) doi: 10.1210/endrev/bnz008. PMID: 31754699

Fragile-X syndrome.

Simensen RJ, Rogers RC
Am Fam Physician 1989 May;39(5):185-93. PMID: 2655406

See all (2519)

Prognosis

The epidemiology of drug-resistant epilepsy: A systematic review and meta-analysis.

Kalilani L, Sun X, Pelgrims B, Noack-Rink M, Villanueva V
Epilepsia 2018 Dec;59(12):2179-2193. Epub 2018 Nov 13 doi: 10.1111/epi.14596. PMID: 30426482

Congenital hypothyroidism: recent advances.

Wassner AJ, Brown RS
Curr Opin Endocrinol Diabetes Obes 2015 Oct;22(5):407-12. doi: 10.1097/MED.0000000000000181. PMID: 26313902

A comprehensive nationwide study of the incidence rate and lifetime risk for treated mental disorders.

Pedersen CB, Mors O, Bertelsen A, Waltoft BL, Agerbo E, McGrath JJ, Mortensen PB, Eaton WW
JAMA Psychiatry 2014 May;71(5):573-81. doi: 10.1001/jamapsychiatry.2014.16. PMID: 24806211

"Idiopathic" mental retardation and new chromosomal abnormalities.

Galasso C, Lo-Castro A, El-Malhany N, Curatolo P
Ital J Pediatr 2010 Feb 14;36:17. doi: 10.1186/1824-7288-36-17. PMID: 20152051 Free PMC Article

Congenital hypothyroidism.

Jain V, Agarwal R, Deorari AK, Paul VK
Indian J Pediatr 2008 Apr;75(4):363-7. Epub 2008 May 18 doi: 10.1007/s12098-008-0040-7. PMID: 18536892

See all (3510)

Clinical prediction guides

Clinical implications of cell-of-origin epigenetic characteristics in non-functional pancreatic neuroendocrine tumors.

Dreijerink KM, Hackeng WM, Singhi AD, Heaphy CM, Brosens LA
J Pathol 2022 Feb;256(2):143-148. Epub 2021 Dec 18 doi: 10.1002/path.5834. PMID: 34750813

Pathogenesis and prenatal diagnosis of human cytomegalovirus infection.

Revello MG, Gerna G
J Clin Virol 2004 Feb;29(2):71-83. doi: 10.1016/j.jcv.2003.09.012. PMID: 14747024

Phenomenology of self-restraint.

Oliver C, Murphy G, Hall S, Arron K, Leggett J
Am J Ment Retard 2003 Mar;108(2):71-81. doi: 10.1352/0895-8017(2003)108<0071:POSR>2.0.CO;2. PMID: 12564940

New definition of mental retardation for the American Association of Mental Retardation.

Fredericks DW, Williams WL
Image J Nurs Sch 1998;30(1):53-6. doi: 10.1111/j.1547-5069.1998.tb01236.x. PMID: 9549942

XLMR genes: update 1992.

Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA
Am J Med Genet 1992 Apr 15-May 1;43(1-2):373-82. doi: 10.1002/ajmg.1320430158. PMID: 1605215

See all (5196)

Recent systematic reviews

Calcium channelopathies and intellectual disability: a systematic review.

Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586 Free PMC Article

Nervous system involvement in Pfeiffer syndrome.

Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874

The epidemiology of drug-resistant epilepsy: A systematic review and meta-analysis.

Kalilani L, Sun X, Pelgrims B, Noack-Rink M, Villanueva V
Epilepsia 2018 Dec;59(12):2179-2193. Epub 2018 Nov 13 doi: 10.1111/epi.14596. PMID: 30426482

Epidemiology of fragile X syndrome: a systematic review and meta-analysis.

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

See all (81)

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