U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Intellectual impairment

MedGen UID:
151917
•Concept ID:
C0683322
•
Mental or Behavioral Dysfunction

Professional guidelines

PubMed

Current treatment for childhood arterial ischaemic stroke.
Sporns PB, Fullerton HJ, Lee S, Kirton A, Wildgruber M
Lancet Child Adolesc Health 2021 Nov;5(11):825-836. Epub 2021 Jul 29 doi: 10.1016/S2352-4642(21)00167-X. PMID: 34331864
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Biancalana V, Glaeser D, McQuaid S, Steinbach P
Eur J Hum Genet 2015 Apr;23(4):417-25. Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.185. PMID: 25227148Free PMC Article
Neuroscience: implications for treatment.
Petrakis I, Krystal J
Alcohol Health Res World 1997;21(2):157-60. PMID: 15704353Free PMC Article

Recent clinical studies

Etiology

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):128-138. Epub 2023 Jun 9 doi: 10.1002/ajmg.c.32054. PMID: 37296540
Main nutritional deficiencies.
Kiani AK, Dhuli K, Donato K, Aquilanti B, Velluti V, Matera G, Iaconelli A, Connelly ST, Bellinato F, Gisondi P, Bertelli M
J Prev Med Hyg 2022 Jun;63(2 Suppl 3):E93-E101. Epub 2022 Oct 17 doi: 10.15167/2421-4248/jpmh2022.63.2S3.2752. PMID: 36479498Free PMC Article
Term Birth Weight and Neurodevelopmental Outcomes.
Cortese M, Moster D, Wilcox AJ
Epidemiology 2021 Jul 1;32(4):583-590. doi: 10.1097/EDE.0000000000001350. PMID: 34001752Free PMC Article
Early neurodevelopmental outcomes of extremely preterm infants.
Rogers EE, Hintz SR
Semin Perinatol 2016 Dec;40(8):497-509. Epub 2016 Nov 16 doi: 10.1053/j.semperi.2016.09.002. PMID: 27865437
Paralympic medicine.
Webborn N, Van de Vliet P
Lancet 2012 Jul 7;380(9836):65-71. doi: 10.1016/S0140-6736(12)60831-9. PMID: 22770458

Diagnosis

The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J
JCI Insight 2023 Oct 23;8(20) doi: 10.1172/jci.insight.162100. PMID: 37698939Free PMC Article
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):128-138. Epub 2023 Jun 9 doi: 10.1002/ajmg.c.32054. PMID: 37296540
Current treatment for childhood arterial ischaemic stroke.
Sporns PB, Fullerton HJ, Lee S, Kirton A, Wildgruber M
Lancet Child Adolesc Health 2021 Nov;5(11):825-836. Epub 2021 Jul 29 doi: 10.1016/S2352-4642(21)00167-X. PMID: 34331864
Dravet Syndrome: Diagnosis and Long-Term Course.
Connolly MB
Can J Neurol Sci 2016 Jun;43 Suppl 3:S3-8. doi: 10.1017/cjn.2016.243. PMID: 27264139
Apathy: a neuropsychiatric syndrome.
Marin RS
J Neuropsychiatry Clin Neurosci 1991 Summer;3(3):243-54. doi: 10.1176/jnp.3.3.243. PMID: 1821241

Therapy

Developmental alcohol exposure is exhausting: Sleep and the enduring consequences of alcohol exposure during development.
Wilson DA, Sullivan RM, Smiley JF, Saito M, Raineki C
Neurosci Biobehav Rev 2024 Mar;158:105567. Epub 2024 Feb 1 doi: 10.1016/j.neubiorev.2024.105567. PMID: 38309498Free PMC Article
Pharmacological Neuroprotection of the Preterm Brain: Current Evidence and Perspectives.
Siahanidou T, Spiliopoulou C
Am J Perinatol 2022 Apr;39(5):479-491. Epub 2020 Sep 22 doi: 10.1055/s-0040-1716710. PMID: 32961562
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
Evers RAF, van Vliet D, van Spronsen FJ
J Inherit Metab Dis 2020 Mar;43(2):189-199. Epub 2019 Aug 20 doi: 10.1002/jimd.12151. PMID: 31373030
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC
Curr Neurol Neurosci Rep 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. PMID: 23443458
Hypoxic-ischemic encephalopathy: pathophysiology and implications for therapy.
Sunshine P
Przegl Lek 2002;59 Suppl 1:6-9. PMID: 12108076

Prognosis

The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J
JCI Insight 2023 Oct 23;8(20) doi: 10.1172/jci.insight.162100. PMID: 37698939Free PMC Article
Term Birth Weight and Neurodevelopmental Outcomes.
Cortese M, Moster D, Wilcox AJ
Epidemiology 2021 Jul 1;32(4):583-590. doi: 10.1097/EDE.0000000000001350. PMID: 34001752Free PMC Article
Early neurodevelopmental outcomes of extremely preterm infants.
Rogers EE, Hintz SR
Semin Perinatol 2016 Dec;40(8):497-509. Epub 2016 Nov 16 doi: 10.1053/j.semperi.2016.09.002. PMID: 27865437
Dravet Syndrome: Diagnosis and Long-Term Course.
Connolly MB
Can J Neurol Sci 2016 Jun;43 Suppl 3:S3-8. doi: 10.1017/cjn.2016.243. PMID: 27264139
Neuroanatomy of autism.
Amaral DG, Schumann CM, Nordahl CW
Trends Neurosci 2008 Mar;31(3):137-45. Epub 2008 Feb 6 doi: 10.1016/j.tins.2007.12.005. PMID: 18258309

Clinical prediction guides

The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J
JCI Insight 2023 Oct 23;8(20) doi: 10.1172/jci.insight.162100. PMID: 37698939Free PMC Article
Mortality after discharge from hospital following an episode of diabetic ketoacidosis.
Shand JAD, Morrow P, Braatvedt G
Acta Diabetol 2022 Nov;59(11):1485-1492. Epub 2022 Aug 11 doi: 10.1007/s00592-022-01953-5. PMID: 35951132
Term Birth Weight and Neurodevelopmental Outcomes.
Cortese M, Moster D, Wilcox AJ
Epidemiology 2021 Jul 1;32(4):583-590. doi: 10.1097/EDE.0000000000001350. PMID: 34001752Free PMC Article
Epigenetic mechanisms of gene expression regulation in neurological diseases.
Gos M
Acta Neurobiol Exp (Wars) 2013;73(1):19-37. doi: 10.55782/ane-2013-1919. PMID: 23595281
Neuroanatomy of autism.
Amaral DG, Schumann CM, Nordahl CW
Trends Neurosci 2008 Mar;31(3):137-45. Epub 2008 Feb 6 doi: 10.1016/j.tins.2007.12.005. PMID: 18258309

Recent systematic reviews

Different corticosteroids and regimens for accelerating fetal lung maturation for babies at risk of preterm birth.
Williams MJ, Ramson JA, Brownfoot FC
Cochrane Database Syst Rev 2022 Aug 9;8(8):CD006764. doi: 10.1002/14651858.CD006764.pub4. PMID: 35943347Free PMC Article
Association of Intrauterine Growth Restriction and Small for Gestational Age Status With Childhood Cognitive Outcomes: A Systematic Review and Meta-analysis.
Sacchi C, Marino C, Nosarti C, Vieno A, Visentin S, Simonelli A
JAMA Pediatr 2020 Aug 1;174(8):772-781. doi: 10.1001/jamapediatrics.2020.1097. PMID: 32453414Free PMC Article
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ
J Med Genet 2008 Oct;45(10):609-21. Epub 2008 Jun 25 doi: 10.1136/jmg.2008.058743. PMID: 18603627Free PMC Article
WITHDRAWN: Maternal iodine supplements in areas of deficiency.
Mahomed K, Gülmezoglu AM
Cochrane Database Syst Rev 2007 Jul 18;2006(3):CD000135. doi: 10.1002/14651858.CD000135.pub2. PMID: 17636600Free PMC Article
Maternal iodine supplements in areas of deficiency.
Mahomed K, Gülmezoglu AM
Cochrane Database Syst Rev 2000;(2):CD000135. doi: 10.1002/14651858.CD000135. PMID: 10796152

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...