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Clinical research

The Committee for Clinical Research, lead by Dr. André Strydom (University College London), will be focusing our efforts on enabling opportunities for collaboration in large scale cohort studies of health issues in Down syndrome as well as clinical trials of treatment options. We plan to achieve this by considering the possibility of creating a research registry, developing a data sharing platform, and agreeing a minimum dataset for future studies. We are particularly keen on improving standardisation of cognitive tests and protocols, and plan to produce relevant research guidelines. This work will hopefully be of equal benefit to research participants with Down syndrome and the research community. This committee is organised in two sub committees:

Adult (AD) Clinical committee:

Andre Strydom (UK) (Chair); Shahid Zaman (UK) ; Juan Fortea (Spain); Wayne Silverman (USA); Tonnie Coppus (Netherlands); Ben Handen (USA); Elizabeth Head (USA); Weihong Song (Canada/ China)

Child/ developmental committee

Stephanie Sherman (USA)  - co-chair; Stefano Vicari (Italy)  - Co-chair; Cecile Cieuta-Walti; Brain Skotko (USA); Julie Korenberg (USA); Silvia Sacco (France); Rafael de la Torre (Spain) ; Jamie Edgin (USA); Stefania Veltri (Italy)


Cognitive test batteries - downloads

The T21RS Committee for Clinical Research has summarized the various cognitive test batteries currently in use in several longitudinal studies of cognitive decline associated with Alzheimer's disease in Down syndrome. It is hoped that this will help towards increasing harmonisation of procedures and assessments used in clinical studies.

As T21RS member, you can log-in with your personal account at the top of the page (e-mail address and password). After log-in, click on Downloads, where you'll find PDF documents about cognitive test batteries used in US and EU studies on Alzheimer's disease in people with Down syndrome.



1- "Sindrome de Down: Neurobiologia, Neuropsicologia, Salud mental", editors: Jesus Florez, Beatriz Garvia, Roser Fernandez-Olaria in Ciencias de la Educacion Preescolar y Especial


2- Frontiers in Behavioral Neuroscience

Research Topic:  Intellectual Disabilities in Down Syndrome from Birth and Throughout Life: Assessment and Treatment

Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening.

For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS.
Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.

Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)

Building an adaptive brain across development: targets for neurorehabilitation must begin in infancy

Timing of therapies for Down syndrome: the sooner, the better

Narrative language competence in children and adolescents with Down Syndrome

Semantic Verbal Fluency Pattern, Dementia Rating Scores and Adaptive Behavior Correlate With Plasma Ab42 Concentrations in Down Syndrome Young Adults

Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer’s Dementia in Down Syndrome: Multi-Faceted Roles of APP

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study

The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer’s disease biomarkers in down syndrome

Pain perception in people with Down syndrome: a synthesis of clinical and experimental research