Evidence map›Paper›PMID 41845890›Full record

ArticleDevelopmental medicine and child neurology2026

Clinical and genetic characterization of intellectual disability.

Aarni Venetvaara, Minna Kraatari-Tiri, Jussi-Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Jonna Komulainen-Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala

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Article in Developmental medicine and child neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Clinical and genetic characterization of intellectual disability.Developmental medicine and child neurology · 2026
    Article
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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Aarni VenetvaaraClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.
Minna Kraatari-TiriClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.
Jussi-Pekka TolonenResearch Unit of Clinical Medicine and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Marko MerikukkaResearch Service Unit, Research Unit of Clinical Medicine, Oulu University Hospital, Oulu, Finland.
IDGEN Study GroupClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.
Jonna Komulainen-EbrahimResearch Unit of Clinical Medicine and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Jukka MoilanenClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.
Johanna UusimaaResearch Unit of Clinical Medicine and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Outi KuisminClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.
Elisa RahikkalaClinical Genetics Unit, Oulu University Hospital, Oulu, Finland.ORCID https://orcid.org/0000-0003-2760-7059

Funding

Alma och K. A. Snellman FoundationCompetitive State Funding for Health Research for the Wellbeing Services County of North Ostrobothnia, and the Medical Research Center OuluFinnish Brain Foundation 20230066Finnish Medical FoundationFoundation for Pediatric ResearchResearch Council of Finland 331436Research Council of Finland 338446Research Council of Finland 356676Sigrid Jusélius FoundationTerttu Foundation
6 · The paper itself

Abstract

aimTo examine the clinical and genetic characteristics of intellectual disability.

methodWe conducted a population-based retrospective analysis on the clinical and genetic data of 959 children with diagnosed intellectual disability during a 5-year period (2017-2021) at Oulu University Hospital, Finland.

resultsPathogenic or likely pathogenic gene variants were detected in 89 of 194 patients (46%) who underwent exome sequencing. Chromosomal abnormalities, including those with low penetrance, were observed in 106 of 530 patients (20%) who underwent chromosomal microarray testing. Chromosomal abnormalities and causative gene variants were more frequently identified in patients with moderate to profound intellectual disability than in those with mild intellectual disability; however, this difference was not significant in the diagnostic yield analysis. Epilepsy, congenital heart disease, hearing loss, ophthalmological abnormalities, and autism spectrum disorder were more common among patients with moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was associated with mild intellectual disability. Chromosomal abnormalities were associated with congenital heart disease and hearing loss, while pathogenic gene variants were associated with epilepsy and ophthalmological abnormalities.

interpretationSomatic comorbidities were more common in moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was more frequent in mild intellectual disability.

Indexed as

Intellectual DisabilityAdolescentAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderChildChild, PreschoolChromosome AberrationsComorbidityEpilepsyExome SequencingFemaleFinlandHumansMaleRetrospective StudiesSeverity of Illness Index

Identifiers

PMID41845890
PMCPMC13649302

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