DSRD

Down syndrome regression disorder (DSRD) is a rare condition that affects individuals with Down syndrome, characterized by a sudden and significant decline in previously acquired skills and abilities.  

• Loss of language and communication skills
• Decline in motor function and coordination
• Cognitive regression
• Behavioral changes, such as apathy, withdrawal, or aggression
• Sleep disturbances
• Loss of interest in activities previously enjoyed 

  The exact cause of DSRD is unknown, but it is believed to be related to an underlying immune dysfunction or neuroinflammatory process.

DSRD is diagnosed based on a thorough medical evaluation, including: 

• Physical examination
• Medical history
• Cognitive and developmental assessment
• Blood tests
• Imaging studies (e.g., MRI) 

There is no cure for DSRD, but treatments aim to manage symptoms and improve quality of life. These may include: 

• Immunotherapy (e.g., intravenous immunoglobulin  IVIG)
• Medications (e.g., anti-inflammatories, corticosteroids)
• Physical and occupational therapy
• Behavioral interventions
• Support for families and caregivers 

 There are ongoing clinical trials investigating new treatments for DSRD, such as: 

 JAK inhibitors: 

•  JAK inhibitors are a class of drugs that treat autoimmune and inflammatory disorders by blocking the Janus kinase (JAK) enzyme, which plays a crucial role in immune cell signaling.  
•   Xeljanz (tofacitinib) is currently being studied  for the treatment of DSRD

 The prognosis for DSRD varies depending on the severity of symptoms and the response to treatment. Some individuals may experience a partial or complete recovery, while others may have long-term disabilities. 

Additional Information:

• DSRD is more common in older individuals with Down syndrome. 
• The onset of symptoms can be gradual or sudden. 
• Research into DSRD is ongoing to better understand its causes and develop more effective treatments.