Evidence map›Paper›PMID 36650105›Full record

ArticleJournal of intellectual disability research : JIDR2023

Health in Down syndrome: creating a conceptual model.

S L Santoro, M J Cabrera, J P T Co, M Constantine, K Haugen, K Krell, B G Skotko, J P Winickoff, K Donelan

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of intellectual disability research : JIDR, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04631237 (Developing a Down Syndrome Health Instrument), which is not on this map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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.

NCT04631237 completednot on this map

Developing a Down Syndrome Health Instrument

TypeobservationalSponsorMassachusetts General HospitalRan2020 to 2025Enrolled758ConditionsDown Syndrome, Health, SubjectiveArmsObservational, no intervention
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Caregiver Interviews Regarding Health in Down Syndrome.American journal of medical genetics. Part A · 2026
    Observational
  4. Observational
  5. Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey.American journal on intellectual and developmental disabilities · 2025
    Article
  6. Global health measures from a National Down Syndrome Registry.American journal of medical genetics. Part A · 2023
    Article
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

9 authors.

S L SantoroDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-4172-0288
M J CabreraDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
J P T CoDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
M ConstantinePatient-Centered Research, Evidera, Bethesda, MD, USA.
K HaugenDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
K KrellDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
B G SkotkoDown Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-5232-9882
J P WinickoffDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
K DonelanHealth Policy Research Center, The Mongan Institute, Survey Research Unit, Massachusetts General Hospital, Boston, MA, USA.

Funding

Developing a Down Syndrome Health InstrumentK23HD100568 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI SANTORO, STEPHANIE LYNN · 2020 to 2024
$847k
NICHD NIH HHSNICHD NIH HHS K23 HD100568NIH HHS K23 HD100568
6 · The paper itself

Abstract

backgroundDown syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being.

methodsIn 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS.

resultsFeedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS.

conclusionHealth in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.

Indexed as

Down SyndromeAdolescentAdultChildChild, PreschoolFocus GroupsHumansInfantInfant, NewbornParentsYoung AdultDown syndromegeneticshealth inequitiesmental healthmethodology in researchquality of life

Identifiers

PMID36650105
PMCPMC9992291

What OpenQuestion holds

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Registered trials

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.