Down Syndrome Regression Disorder
Down Syndrome Regression Disorder (DSRD) is a condition where a person with Down syndrome loses skills and abilities they had previously learned. The changes are usually sudden and can happen over a few weeks. The person may experience a sudden change in communication, social interaction or self-care skills. They may also experience changes in behaviour, mood and thinking.
DSRD is rare and not all people with Down syndrome experience DSRD. When DSRD occurs it is usually between the age of 10 and 30 years.
When someone with Down syndrome shows signs of regression, it is often severe and affects the quality of life of both the person and their caregivers.
You may notice some of these changes:
Loss of speech
Changes in eating, drinking or sleep patterns
Needing more help with showering, dressing, toileting or moving
Social withdrawal, decreased eye contact or becoming agitated
Changes in mood like anxiety, depression or irritability
Movement changes like slowness, repeated movements, freezing or difficulty starting a movement
Psychiatric changes like hallucinations or disorganised thoughts.
Here is a checklist from the US National Down Syndrome Society.
Early intervention is important. If you notice sudden changes and a loss of skills within a 12 week period, talk to your doctor.
Causes and Mechanisms
The exact causes of DSRD remain largely unknown, with no clear pathophysiological mechanism identified. However, several hypotheses have been proposed, including psychological stress, primary psychiatric disorders, and autoimmune processes, Emotional stress has been noted as a potential trigger for regression episodes, with many patients experiencing significant stress prior to the onset of symptoms. Early intervention is important.
Diagnosis and Challenges
Diagnosing DSRD is challenging due to the lack of standardized diagnostic criteria and tools. Current approaches often involve ruling out other potential causes of regression, such as physical health issues, and using a combination of clinical assessments and caregiver reports. The absence of a validated diagnostic tool for catatonia, a common symptom in DSRD, complicates the diagnosis further.
You can use a DSRD checklist to help you describe the changes. You can also show your doctor videos of the person before they started losing skills, and compare these with videos of new or unusual behaviours.
People may develop DSRD due to different reasons. Doctors will need to eliminate a range of possible medical or environmental reasons for the regression. There are different treatment options depending on what the cause may be.
Guidelines and symptom checklists are available to help with making a diagnosis.
Treatment and Management
Treatment for DSRD is primarily symptomatic, with a focus on managing neuropsychiatric symptoms. Various therapeutic interventions have been explored, including psychiatric medications, electroconvulsive therapy (ECT), and immunotherapy such as intravenous immunoglobulin (IVIG). While IVIG has shown some effectiveness, its use is associated with potential risks, and its efficacy without concurrent treatments like lorazepam remains unclear. ECT has been noted for its rapid and sustained response in some cases.
Future Directions
There is a need for further research to establish standardized diagnostic criteria and effective treatment protocols for DSRD. Multidisciplinary care involving various medical specialties is crucial for the comprehensive management of this condition. Establishing a clear definition and understanding of DSRD will aid in advancing research and improving clinical outcomes for affected individuals.
Further information:
https://www.downsyndrome.org.au/blog/resource-category/down-syndrome-regression-disorder/
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. PMID: 35911905; PMCID: PMC9335003. Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS.
Webinars:
Down Syndrome Regression disorder: What it is and what can be done about it (2024)
Presentation slides from Dr Cathy Franklin’s talk at the 2024 World Down Syndrome Congress.
Immune-based treatments for Down Syndrome Regression Disorder (2024)
Dr Jonathan Santoro presents his plenary session on immune-based treatments from the World Down Syndrome Congress 2024
Down Syndrome Regression Disorder: Symptoms, treatments and how to manage (2024)
This 2024 webinar by Dr Jonathan Santoro was hosted by Down Syndrome Western Australia.
Down Syndrome Regression Disorder Checklist (2023)
A short video guide to the NDSS Down Syndrome Regression Disorder Checklist, by NDSS and Dr Jonathan Santoro.
The Symptom Checklist is available on the NDSS website.
Updates on Down Syndrome Regression Disorder (2023)
A 2023 webinar with Dr. Jonathan Santoro and the National Down Syndrome Society (NDSS).
Down Syndrome Regression Disorder (2023)
Dr Cathy Franklin discusses regression disorder in young people with Down syndrome. This webinar was hosted by Down Syndrome Queensland.