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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1987 1
1989 2
1990 1
1991 4
1992 1
1993 5
1994 2
1995 5
1996 3
1997 4
1998 3
1999 6
2000 5
2001 8
2002 5
2003 6
2004 5
2005 5
2006 5
2007 8
2008 5
2009 3
2010 3
2011 10
2012 5
2013 5
2014 11
2015 11
2016 10
2017 11
2018 8
2019 1
2020 10
2021 12
2022 7
2023 11
2024 7

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195 results

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Page 1
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has been poorly investigated. ...Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed mor …
Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental del …
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 Review.
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neonatal screening programmes ident …
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperpheny …
16p11.2 deletion syndrome.
Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. Chung WK, et al. Curr Opin Genet Dev. 2021 Jun;68:49-56. doi: 10.1016/j.gde.2021.01.011. Epub 2021 Mar 2. Curr Opin Genet Dev. 2021. PMID: 33667823 Free PMC article. Review.
Studies of genetically defined conditions, particularly CNVs that are not associated with profound disabilities, provide homogeneity to study genetic impact on brain development, structure, and function to better understand complex neurobehavioral phenotypes such as autism …
Studies of genetically defined conditions, particularly CNVs that are not associated with profound disabilities, provide homogeneity …
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
RESULTS: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). ...CONCLUSION: De …
RESULTS: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 …
Severe Intellectual Disability: Systematic Review of the Prevalence and Nature of Presentation of Unipolar Depression.
Walton C, Kerr M. Walton C, et al. J Appl Res Intellect Disabil. 2016 Sep;29(5):395-408. doi: 10.1111/jar.12203. Epub 2015 Jun 22. J Appl Res Intellect Disabil. 2016. PMID: 26101049 Review.
BACKGROUND: The diagnosis of depression in severe and profound intellectual disability is challenging. Without adequate skills in verbal self-expression, standardized diagnostic criteria cannot be used with confidence. The purpose of this systematic review wa …
BACKGROUND: The diagnosis of depression in severe and profound intellectual disability is challenging. Without adequate …
Prevalence of Sexual Abuse in Adults with Intellectual Disability: Systematic Review and Meta-Analysis.
Tomsa R, Gutu S, Cojocaru D, Gutiérrez-Bermejo B, Flores N, Jenaro C. Tomsa R, et al. Int J Environ Res Public Health. 2021 Feb 18;18(4):1980. doi: 10.3390/ijerph18041980. Int J Environ Res Public Health. 2021. PMID: 33670753 Free PMC article. Review.
Subgroup analyses revealed that prevalence of sexual abuse was higher in institutionalized individuals. The most prevalent profile of abuser is of a peer with intellectual disability. Prevalence increases from mild to severe levels of intellectual disabili …
Subgroup analyses revealed that prevalence of sexual abuse was higher in institutionalized individuals. The most prevalent profile of abuser …
A systematic review of the behaviours associated with depression in people with severe-profound intellectual disability.
Eaton C, Tarver J, Shirazi A, Pearson E, Walker L, Bird M, Oliver C, Waite J. Eaton C, et al. J Intellect Disabil Res. 2021 Mar;65(3):211-229. doi: 10.1111/jir.12807. Epub 2021 Jan 11. J Intellect Disabil Res. 2021. PMID: 33426741 Review.
The assessment of depression in people with severe to profound intellectual disability (severe-profound ID) is challenging, primarily due to inability to report internal states such as mood, feelings of worthlessness and suicidal ideation. This group a …
The assessment of depression in people with severe to profound intellectual disability (severe-profound ID) is c …
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one large family with profound X-linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike t …
To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one …
Scoping review on communication systems used by adults with severe/profound intellectual disability for functional communication.
Danker J, Dreyfus S, Strnadová I, Pilkinton M. Danker J, et al. J Appl Res Intellect Disabil. 2023 Sep;36(5):951-965. doi: 10.1111/jar.13133. Epub 2023 Jun 21. J Appl Res Intellect Disabil. 2023. PMID: 37341439 Review.
BACKGROUND: Adults with severe/profound intellectual disability typically face poor communication outcomes as they are often nonverbal and need their supporters to provide for their communication needs. ...Several barriers (e.g., individual factors related to …
BACKGROUND: Adults with severe/profound intellectual disability typically face poor communication outcomes as they are …
Promoting self-determination of persons with severe or profound intellectual disabilities: a systematic review and meta-analysis.
Kuld PB, Frielink N, Zijlmans M, Schuengel C, Embregts PJCM. Kuld PB, et al. J Intellect Disabil Res. 2023 Jul;67(7):589-629. doi: 10.1111/jir.13036. Epub 2023 May 11. J Intellect Disabil Res. 2023. PMID: 37165964 Review.
People with severe or profound intellectual disabilities (IDs) are believed to experience low levels of self-determination, which negatively affects their quality of life. ...Further research is needed to explore relationships between individuals with severe or p …
People with severe or profound intellectual disabilities (IDs) are believed to experience low levels of self-determination, wh …
195 results