Open research questions in Down syndrome and intellectual disability research
622 gap statements mined from Down syndrome and intellectual disability research papers in our 7.9M-paper local library, which holds 4,364 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.
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What the literature leaves open
The authors highlight the challenge of finding alternative terms that are clearly defined and effective. The study notes the challenge of ensuring that the needs of people with intellectual disability are appropriately met and understood through positive and constructive support.
Revisiting the use of the term “challenging behaviour” in services for people with intellectual disability · 2026 · DOIThe gap in understanding and interpreting the term 'challenging behaviour' has led to criticisms and misinterpretations. The lack of clear definition and understanding of alternative terms may work against the needs of people with intellectual disability. The authors identify a need to revisit the term's intended meaning and clarify its importance in current times.
Revisiting the use of the term “challenging behaviour” in services for people with intellectual disability · 2026 · DOILimited research examines demographics and psychosocial factors among families adopting children with Down syndrome (DS).
Characterization of Families Adopting Children With Down Syndrome and Exploratory Associations With Neuropsychiatric Outcomes · 2026 · DOIThe study faced challenges in terms of small sample size and limited control over potential confounding variables. The study had to address the complexity of examining the relationship between circadian rest-activity rhythms and cognitive function in adults with Down syndrome.
Circadian Rest-Activity Rhythms, Cognition, and Alzheimer Disease Dementia in Adults With Down Syndrome · 2026 · DOIThere is a lack of research on the role of circadian rhythm disruption in Alzheimer's disease-related cognitive impairments in adults with Down syndrome. The study aims to address this gap by examining the association between the 24-hour rest-activity rhythm and cognition, dementia symptoms, and clinical Alzheimer's disease status in adults with Down syndrome.
Circadian Rest-Activity Rhythms, Cognition, and Alzheimer Disease Dementia in Adults With Down Syndrome · 2026 · DOIFuture research should focus on developing strategies for radical inclusion. Future research should investigate the experiences of individuals with I/DD and their families in healthcare transition.
Structural Ableism and Healthcare Transition for Adults with Intellectual and/or Developmental Disabilities · 2026 · DOIThe gap is the lack of understanding of structural ableism in healthcare transition. The gap is the exclusion of individuals with I/DD from healthcare services.
Structural Ableism and Healthcare Transition for Adults with Intellectual and/or Developmental Disabilities · 2026 · DOIAdolescents and young adults with intellectual and developmental disabilities (IDs) experience disproportionately low physical activity and high sedentary time yet remain insufficiently served by scalable and cognitively accessible health-enhancing physical activity (HEPA) programmes.
A co-designed gamified mHealth platform for adolescents and young adults with intellectual and developmental disabilities: System architecture and mixed-methods proof-of-concept · 2026 · DOIThere is a need for further research on the effects of dual-task training interventions on postural control and gait in individuals with Down syndrome. The current evidence is limited by the heterogeneity of outcome measures and the lack of long-term follow-up data.
The effect of dual-task on postural control and gait in individuals with Down syndrome: a systematic review · 2026 · DOIFuture research should consider a comparative analysis of physical disability representation across multiple studios, including other animation giants like DreamWorks, and across various film genres.
“Little Freak…Yes, Him with Those Ears Only a Mother Could Love”: Representation of Physical Disability in Disney Across Three Eras · 2026 · DOIThe study highlights the challenges faced by individuals with disabilities, including structural inequities and limited access to healthcare services. The study underscores the challenges of developing disability-inclusive service systems governance. The study notes the challenges of empowering individuals with disabilities to articulate their needs and exercise agency.
Fostering Posttraumatic Growth in Individuals with Disabilities: Implications from the COVID-19 Experience · 2026 · DOIFuture research should investigate the long-term effects of the COVID-19 pandemic on posttraumatic growth among individuals!!!!!!!!!!!!!!!!!!!!!!!!!!!!!-with disabilities. Future research should explore the development of disability-inclusive service systems governance.
Fostering Posttraumatic Growth in Individuals with Disabilities: Implications from the COVID-19 Experience · 2026 · DOIMoving forward Research Further research is required regarding ethnicity and its relation to premature deaths.
An Exploration of the Characteristics of Adults Being Screened Using an Online Intellectual Disability Screening Tool · 2026 · DOIThe medical model and social model of disability can be limiting and stigmatizing for neurodivergent individuals. Counselors may lack training and understanding of neurodiversity and its implications for practice. The neurodiversity movement faces challenges in terms of recognition and acceptance within the counseling profession.
The neurodiversity movement is largely absent from the peer-reviewed counseling literature. There is a lack of understanding and support for neurodivergent individuals in the counseling profession.
Because EF was not assessed in participants with ID, it remains unclear whether they exhibited an EF deficit relative to the VA-matched TD group. To support generalization of the findings, the task’s validity and reliability in children with ID should be investigated, for example by examining correlations with real-life dressing performance or by assessing test–retest reliability.
Script Execution and Turning Back by Children with Intellectual Disability: An Investigation Using Dressing Scripts · 2026 · DOIFuture research should examine the characteristics of patients on learning disability registers that might help understand which patients are being missed. Future research should investigate the factors that explain the temporal trends, regional disparities, and variability between practices.
Disparities in the uptake of learning disability (intellectual disability) annual health checks · 2026 · DOIThere is a lack of comprehensive and up-to-date information on the uptake of annual health checks among people with a learning disability. There is a need to understand the factors that explain the temporal trends, regional disparities, and variability between practices.
Disparities in the uptake of learning disability (intellectual disability) annual health checks · 2026 · DOIThe Rosenberg Self-Esteem Scale (RSES) is widely used to assess global self-esteem, including among adolescents with LDs, yet its psychometric properties remain insufficiently established in this population.
A Confirmatory Factor Analysis of the Rosenberg Self-Esteem Scale for Adolescents With Learning Disabilities: A Pilot Study · 2026 · DOIDown syndrome (DS) is the most common genetic cause of intellectual disability, yet age-related cortical maturation patterns that contribute to developmental delays remain poorly understood.
Altered early cortical EEG maturation and its relationship to language development in Down syndrome · 2026 · DOIHere, we addressed these gaps in the literature by examining individual differences in emotion regulation among individuals with DS using a multi‐measure, multi‐informant approach.
Although there is clear evidence that individuals with Down syndrome (DS) experience difficulties in identifying and interpreting emotions, there is limited research on emotional regulation in this population.
These results demonstrate that fasudil can alter multiple T21-associated abnormalities in a beneficial manner, suggesting that fasudil warrants further study as a candidate prenatal pharmacotherapy for DS.
Fasudil induces anti-inflammatory transcriptomic changes and increased proliferation in human trisomy 21 neural progenitor cells · 2026 · DOIFuture research should build on this initial study by investigating what co-production activities are evident in a broader range of community-based services for children with intellectual disabilities and behaviours that challenge, utilising more in-depth methodologies to better understand what co…
Co-production within community-based services for children with intellectual disabilities and behaviours that challenge in England · 2026 · DOIAs higher-level definitions of co-production often have funding implications production is occurring (e.g., documentary analysis, ethnography), as well as investigating in more Future research should build on this initial study by investigating what co-production activities are Research should also endeavour to consider how these findings fit within broader debates around services to address their lack of current…
Co-production within community-based services for children with intellectual disabilities and behaviours that challenge in England · 2026 · DOI
Most-cited papers in Down syndrome and intellectual disability research
- Developing the World Health Organization Disability Assessment Schedule 2.0 · Bulletin of the World Health Organization · 2010 · 1,526 citations
- Prevalence of intellectual disability: A meta-analysis of population-based studies · Research in Developmental Disabilities · 2011 · 1,452 citations
- Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008 · PEDIATRICS · 2011 · 1,361 citations
- Mental ill-health in adults with intellectual disabilities: prevalence and associated factors · The British Journal of Psychiatry · 2006 · 1,047 citations
- Down's syndrome · The Lancet · 2003 · 959 citations
- Persons With Disabilities as an Unrecognized Health Disparity Population · American Journal of Public Health · 2015 · 927 citations
- Prevalence of Disabilities and Health Care Access by Disability Status and Type Among Adults — United States, 2016 · MMWR Morbidity and Mortality Weekly Report · 2018 · 725 citations
- The ‘F‐words’ in childhood disability: I swear this is how we should think! · Child Care Health and Development · 2011 · 589 citations
- Defining social inclusion of people with intellectual and developmental disabilities: An ecological model of social networks and community participation · Research in Developmental Disabilities · 2014 · 454 citations
- The Neurodiversity Approach(es): What Are They and What Do They Mean for Researchers? · Human Development · 2022 · 441 citations
Most recent work
- Altered hepatic metabolism in Down syndrome · Cell Reports · 2026
- Accessibility and responsiveness of Better Access treatment services: Insights from the use of linked administrative data in the evaluation of Better Access · Australian & New Zealand Journal of Psychiatry · 2026
- Single-cell atlas of the developing Down syndrome brain cortex · Nature Medicine · 2026
- Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons · Cell Death and Disease · 2026
- Promoting Health Equity for People With Intellectual and Developmental Disabilities Through Research · JAMA Internal Medicine · 2026
- Relationship of cholinergic basal forebrain atrophy with the time course of Alzheimer's disease pathology and cognitive decline in adults with Down syndrome: a longitudinal cohort study · Alzheimer s & Dementia · 2026
- Advancing health-care access to optimise health and quality of life for children and young people with Down syndrome worldwide · The Lancet Child & Adolescent Health · 2026
- Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex · Science · 2026
- Co‐Producing a Patient Reported Experience Measure (PREM) With and for People With Intellectual Disability · Health Expectations · 2026
- Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 induced pluripotent stem cell-derived neural cells · Disease Models & Mechanisms · 2026
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