University of Oulu

Sauna‐aho, O, Bjelogrlic‐Laakso, N, Sirén, A, Kangasmäki, V, Arvio, M. Cognition in adults with Williams syndrome—A 20‐year follow‐up study. Mol Genet Genomic Med. 2019; 7:e695.

Cognition in adults with Williams syndrome : a 20-year follow-up study

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Author: Sauna‐aho, Oili1,2; Bjelogrlic‐Laakso, Nina3; Sirén, Auli4;
Organizations: 1KTO‐Special Welfare District of Varsinais‐Suomi, Paimio, Finland
2Public Health, Turku University Hospital, Clinical Research Centre and University of Turku, Turku University, Turku, Finland
3Special Welfare District of Pirkanmaa, Tampere University Hospital, Tampere, Finland
4Kanta‐Häme Central Hospital, Hämeenlinna, Finland
5Neurology, Päijät‐Häme Joint Municipal Authority, Lahti, Finland
6PEDEGO, University of Oulu, Oulu, Finland
7Clinical Genetics, Turku University Hospital, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.6 MB)
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Language: English
Published: John Wiley & Sons, 2019
Publish Date: 2020-03-24


Background: Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70–79) or abnormally low intelligence (IQ < 70). According to earlier studies young individuals with WBS demonstrate generally a slightly higher verbal IQ (VIQ) compared to performance/nonverbal IQ (PIQ). WBS was recognized as a distinct entity already about 60 years ago, but still cognition in adults with WBS is poorly known.

Methods: We followed 25 adults (age at baseline 19–68, median 38) with genetically confirmed WBS for about 20 years. The study subjects underwent medical and neuropsychological assessments at the baseline and at the end of follow‐up.

Results: The mean VIQ remained quite stable from early adulthood up to 40 years of age after which it declined. The mean PIQ kept on improving from early adulthood until 50 years of age after which it gradually declined. At the end of the study, all study subjects had at least two longstanding health problems out of which hypertension, psychiatric disorder, and scoliosis or kyphosis occurred most frequently. At end of the study, two patients suffered from vascular dementia. Seven patients died during the follow‐up.

Conclusions: In adults with WBS, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co‐morbidities may increase risk to shortened life span.

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Series: Molecular genetics & genomic medicine
ISSN: 2324-9269
ISSN-E: 2324-9269
ISSN-L: 2324-9269
Volume: 7
Issue: 6
Article number: UNSP e695
DOI: 10.1002/mgg3.695
Type of Publication: A1 Journal article – refereed
Field of Science: 3111 Biomedicine
Funding: Päijät‐Häme Cultural Foundation, Finland has promoted this study.
Copyright information: © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.