Evidence map›Paper›PMID 31973697›Full record

ArticleJournal of neurodevelopmental disorders2020

Health comorbidities and cognitive abilities across the lifespan in Down syndrome.

Carla M Startin, Hana D'Souza, George Ball, Sarah Hamburg, Rosalyn Hithersay, Kate M O Hughes, Esha Massand, Annette Karmiloff-Smith, Michael S C Thomas, LonDownS Consortium and 1 more

Open access · goldAbstract read
In one paragraph

Article in Journal of neurodevelopmental disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 1 pooled it
21.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

78 citing papers in PubMed, 1 synthesis or guideline pooled it, 159 citations in OpenAlex.

  1. Pooled it
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  14. Patient stratification reveals the molecular basis of disease co-occurrences.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  15. Article
  16. Article
  17. Age and sex are associated with Alzheimer's disease neuropathology in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  18. Down syndrome in Africa: Challenges, opportunities, and future directions.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  19. Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder.Journal of autism and developmental disorders · 2025
    Article
  20. Article

18 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

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

11 authors at 4 institutions in 2 countries.

Carla M StartinDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. carla.startin.09@ucl.ac.uk.ORCID 0000-0001-9261-9924
Hana D'SouzaThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
George BallThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
Sarah HamburgDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Rosalyn HithersayDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Kate M O HughesThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
Esha MassandThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
Annette Karmiloff-SmithThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
Michael S C ThomasThe LonDownS Consortium (London Down Syndrome Consortium), London, UK.
LonDownS Consortium
Andre StrydomDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Birkbeck, University of London · GBKing's College London · GBUniversity of Arizona · USUniversity of Cambridge · GB

Funding

Medical Research Council G0701075Medical Research Council G0901254Medical Research Council MR/L501542/1Medical Research Council MR/N026004/1Medical Research Council MR/R024901/1Medical Research Council MR/S011277/1Parkinson's UK G-0907Wellcome TrustWellcome Trust 098330/Z/12/Z
6 · The paper itself

Abstract

backgroundDown syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown. We aimed to describe patterns of physical health and psychiatric comorbidity prevalence, and receptive language ability, in DS across the lifespan, and determine relationships with cognitive outcomes.

methodsDetailed medical histories were collected and cognitive abilities measured using standardised tests for 602 individuals with DS from England and Wales (age range 3 months to 73 years). Differences in prevalence rates between age groups and between males and females were determined using chi-squared or Fisher's exact tests. In adults, rates for psychiatric comorbidities were compared to expected population rates using standardised morbidity ratios (SMRs). Adapted ANCOVA functions were constructed to explore age and sex associations with receptive language ability across the lifespan, and regression analyses were performed to determine whether the presence of health comorbidities or physical phenotypes predicted cognitive abilities.

resultsMultiple comorbidities showed prevalence differences across the lifespan, though there were few sex differences. In adults, SMRs were increased in males and decreased in females with DS for schizophrenia, bipolar disorder, and anxiety. Further, SMRs were increased in both males and females with DS for dementia, autism, ADHD, and depression, with differences more pronounced in females for dementia and autism, and in males for depression. Across the lifespan, receptive language abilities increasingly deviated from age-typical levels, and males scored poorer than females. Only autism and epilepsy were associated with poorer cognitive ability in those aged 16-35 years, with no relationships for physical health comorbidities, including congenital heart defects.

conclusionsOur results indicate the prevalence of multiple comorbidities varies across the lifespan in DS, and in adults, rates for psychiatric comorbidities show different patterns for males and females relative to expected population rates. Further, most health comorbidities are not associated with poorer cognitive outcomes in DS, apart from autism and epilepsy. It is essential for clinicians to consider such differences to provide appropriate care and treatment for those with DS and to provide prognostic information relating to cognitive outcomes in those with comorbidities.

Indexed as

CognitionAdolescentAdultAgedAged, 80 and overChildChild, PreschoolComorbidityDown SyndromeFemaleHumansInfantLanguage Development DisordersLongevityMaleMental DisordersCognitive outcomesDown syndromeHealth comorbiditiesIntellectual disabilityPsychiatric comorbiditiesReceptive language ability

Identifiers

PMID31973697
PMCPMC6979347
OpenAlexW3003016857

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.