B
BUDDSBarnet Unified Document
for Down Syndrome

Down Syndrome Regression Disorder

Sudden loss of skills typically between ages 10-30, symptom checklists, diagnostic challenges, treatment options including ECT and immunotherapy, and the importance of early intervention

Overview

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 ages 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 12 weeks, 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 before the onset of symptoms. Early intervention is important.

Diagnosis and Challenges

Diagnosing DSRD is challenging due to the lack of standardised 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 the cause.

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 standardised diagnostic criteria and effective treatment protocols for DSRD. Multidisciplinary care involving various medical specialities 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

  • 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.

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