Down Syndrome Regression Disorder (DSRD) Delphi Survey in the United Kingdom

Down Syndrome Regression Disorder (DSRD) is a term used to describe the sudden significant deterioration/loss of previously acquired motor, language and behaviour skills, most often preceded by a potential emotional or environmental trigger, such as a change in school or family circumstances not explained by autism or dementia. Although some therapies have been tried and some are still under research, no definitive treatments have been approved.

This disorder is a separate entity to dementia and to autism – however, poor awareness amongst professionals of DSRD along with some of the overlap of symptoms with autism and dementia, has meant that little is known about the true incidence and therefore management of it.

Down’s Syndrome Scotland are very aware of individuals with Down’s syndrome that appear to regress and families are concerned and confused as to why there doesn’t seem to be any explanation of why this has happened. The condition was also a significant area of discussion at this year’s World Down Syndrome Congress which highlighted that it is still not well understood and there is limited awareness and understanding amongst healthcare professionals.  

We are therefore pleased to share details of a UK study which hopes that by identifying the number of individuals with DSRD in the United Kingdom, it will help to improve knowledge and awareness of this condition and in turn, will lead to research on the management of this condition, in the UK, in the future.

A survey will look at the numbers of people aged between 10 – 45 years old who may have Down Syndrome Regression Disorder (DSRD). i.e. individuals that have a loss of previously acquired skills not associated with a diagnosis of autism or Alzheimer’s disease.

The research team are gathering information, including a detailed survey of symptoms, to build a clearer picture of how many people may be affected and will be looking to use this information to demonstrate the need for more awareness, education and research into this specialised but really important area.

The online survey is being conducted by Drs Rachamim and Seenivasan and should only take around five minutes to complete.

The questions are aimed at identifying any potential triggers like difficult experiences and challenging issues that the young person has encountered in the past.

In the United Kingdom, the exact occurrence of this condition remains unknown. A series of symptoms and triggering factors have been developed recently, by researchers and clinicians, that are very helpful in potentially identifying this condition. The survey questions relate to these series of symptoms and triggers that could possibly help in identifying DSRD.

Further information about the study can be found by clicking here: Participant Information Sheet

Click here to take part in the survey: DSRD – Delphi Survey (parents/carers version)

About the research team

Dr Ella Rachamim

Specialist doctor in Community Paediatrics,

Edgware Community Hospital,

Barnet (Royal Free Hospital Trust)

Dr. Abinaya Seenivasan

ST5, Paediatric Neurology GRID,

Royal Manchester Children’s Hospital.