Clinical and genetic characterization of intellectual disability
Venetvaara, Aarni; Kraatari-Tiri, Minna; Tolonen, Jussi-Pekka; Merikukka, Marko; IDGEN Study Group; Komulainen-Ebrahim, Jonna; Moilanen, Jukka; Uusimaa, Johanna; Kuismin, Outi; Rahikkala, Elisa (2026-03-17)
John Wiley & Sons
17.03.2026
Venetvaara A, Kraatari-Tiri M, Tolonen J-P, Merikukka M, Komulainen-Ebrahim J, Moilanen J, et al. Clinical and genetic characterization of intellectual disability. Dev Med Child Neurol. 2026;00:1–9. https://doi.org/10.1111/dmcn.70252
https://creativecommons.org/licenses/by/4.0/
© 2026 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
https://creativecommons.org/licenses/by/4.0/
© 2026 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
https://creativecommons.org/licenses/by/4.0/
Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:oulu-202603232296
https://urn.fi/URN:NBN:fi:oulu-202603232296
Tiivistelmä
Abstract
Aim:
To examine the clinical and genetic characteristics of intellectual disability.
Method:
We 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.
Results:
Pathogenic 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.
Interpretation:
Somatic comorbidities were more common in moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was more frequent in mild intellectual disability.
Aim:
To examine the clinical and genetic characteristics of intellectual disability.
Method:
We 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.
Results:
Pathogenic 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.
Interpretation:
Somatic comorbidities were more common in moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was more frequent in mild intellectual disability.
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