About Down's Syndrome : Completed Research by Condition


Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. Di Guiseppi, C., Hepburn, S., Davis, J.M., Fidler, D.J., Hartway, S.R.N., Lee, N.R., Miller, L., Ruttenber, M. & Robinson, C.(2010). Journal of Developmental and Behavioural Paediatrics, 31(3), 181–191. Abstract

Autistic disorders in Down’s syndrome: background factors and clinical correlates. Rasmussen, P., Borjesson, O., Wentz, E., Gillberg, C. (2001). Developmental Medicine & Child Neurology, 43(11), 750-754. Abstract

The continuing challenge of diagnosing autism spectrum disorder in children with Down syndrome Gray, L., Ansell, P., Baird, G. & Parr, J.R. (2011). Child: Care, Health and Development, 37(4), 459–461.

Autism Characteristics and Behavioural Disturbances in ∼ 500 Children with Down’s Syndrome in England and Wales. Warner G., Moss J., Smith P., Howlin P. (Online/Print 2014). Autism Research, Vol 7, Issue 4, 433-441 Abstract http://onlinelibrary.wiley.com/doi/10.1002/aur.1371/abstract See further information.


Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down syndrome .Mehers, K. L., Williams, A. J. K., Brown, J. L., Bingley, P. J., Holl, R. W., Rohrer, T. P., Schober, E., Abdul-Rasoul, M. M., Hamilton-Shield, J. P. & Gillespie, K. M. (Online 2012/Print 2013). Diabetes Care, 36(5), 1181-1185. Abstract

Responsibility for Diabetes Management by People with Learning Disabilities and Those who Support Them. Lorna Rouse. Anglia Ruskin University. Summary of findings.


Social cognition in children with Down’s syndrome: challenges to research and theory building. Cebula, K.R. and Moore, D.G. and Wishart, J.G. (2010). Journal of Intellectual Disability Research, 54(2), 113-134. Abstract

ACORNS: A tool for the visualisation and modelling of atypical development. [ACORNs an Accessible Cause-Outcome Representation and Notation System]. Moore, D.G and George, R. Journal of Intellectual Disability Research, 55(10), 956–972. Abstract


Assessment of the feasibility and clinical value of further research to evaluate the management options for children with Down syndrome and otitis media with effusion: a feasibility study. Fortnum, H., Leighton, P., Smith, M.D., Brown, L., Jones, M., Benton, C., et al. (2014). Health Technol Assess, 18(60). Abstract

Improving Language

A new model of service delivery using Electropalatography (EPG)

Children with Down’s syndrome present with specific difficulties in speech production making them less intelligible to family and friends. Previous research funded by the Medical Research Council and Baily Thomas Charitable Fund at QMU trialled the use of Electropalatography (EPG) as a therapy technique for these specific difficulties with a group of young people with Down’s syndrome. This research found that speech intelligibility can be improved using EPG as a therapy tool. This project is expanding on this finding. However, instead of providing EPG therapy at QMU as previously, the research team are developing and evaluating a consultative model of intervention, providing specialised training to educational support staff who will provide speech input within the child’s normal school environment. The project ran from April 2012 to April 2014.

Data is currently being analysed (Oct 2014) – Awaiting feedback

For more information see: http://www.qmu.ac.uk/nuffield-epg-down-syndrome/default.htm


Post-study Report: Memory training study for individuals with Down syndrome. Research at the University of Bristol led by Professor Chris Jarrold and Liz Smith. Report 2015. PDF

Hebb learning, verbal short-term memory, and the acquisition of phonological forms in children. Mosse, E. K., & Jarrold, C. (2008). The Quarterly Journal of Experimental Psychology, 61(4), 505-514. Abstract

Searching for the Hebb effect in Down syndrome: evidence for a dissociation between verbal short-term memory and domain-general learning of serial ord. Mosse, E. K., & Jarrold, C. (2010). Journal of Intellectual Disability Research, 54, 295-307. Abstract

Evidence for preserved novel word learning in Down syndrome suggests multiple routes to vocabulary acquisition. Mosse, E. K., & Jarrold, C. (2011). Journal of Speech, Language, and Hearing Research, 54, 1137-1152. Abstract


Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. Ashworth, A., Hill, C.M., Karmiloff-Smith, A. and Dimitriou, D. (2013). Research in Developmental Disabilities, 34(5), 1572-1580 Abstract


An EPG analysis of /t/ in young people with Down’s syndrome. Timmins, C., Hardcastle, W.J., Wood, S. & Cleland, J. (2011). Clinical Linguistics & Phonetics, 25(11-12), 1022-1027. Abstract

The relationship between speech, oromotor, language and cognitive abilities in children with Down’s syndrome. Cleland, J., Wood, S., Hardcastle, W., Wishart, J. and Timmins, C. (2010). International Journal of Language and Communication Disorders, 45(1), 83-95.  Abstract

How do parents view the impact of sibling interaction and relationships on the communication of their child with Down’s syndrome? New research has demonstrated a positive relationship between the communication of a child with Down’s syndrome and sibling interaction. See: Do Siblings Affect the Development of Language in a Child with Down’s Syndrome?

The Adjustment of Siblings of Children with a Disability

This research project, undertaken by a Trainee Educational Psychologist at the University of Southampton, looked at how siblings are influenced by growing up with a brother or sister with Down’s syndrome or Autism Spectrum Disorder (ASD).

Typically developing siblings recruited to the study were:

  • Aged 7 to 11, attending a day primary school, living in the same household as their disabled sibling, and without a disability.
  • The sibling with Down’s syndrome or ASD was aged between 5 and 16 years and attending school as a day pupil.

Children without a disabled sibling were also asked to participate to form a comparison control group.

Data gathering involved both the typically developing sibling and one of their parents completing a series of questionnaires, either as a paper booklet or online

The study has been written up (Oct 2014) – Awaiting feedback