Your Resource for Understanding Down Syndrome Regression Disorder (DSRD)
Regression to Resilience
What is DSRD?
Down Syndrome Regression Disorder (DSRD) is a complex and often misunderstood condition that affects individuals with Down syndrome. This condition is characterized by an unexpected and significant decline in cognitive, motor, and functional abilities. For families, caregivers, and individuals with Down syndrome, DSRD can be both confusing and distressing, as it disrupts progress and independence that may have taken years to achieve.
The exact causes of DSRD remain unclear. Some researchers suggest links to psychological stress, underlying medical conditions, or changes in brain function, but the lack of comprehensive studies leaves many questions unanswered. Because DSRD is underresearched, individuals affected by the condition and their families often face delayed diagnoses and limited treatment options. This gap in understanding highlights the urgent need for greater awareness, research, and resources to support those impacted.
While DSRD may present differently for every individual, most caregivers and family members report symptoms of catatonia, anxiety, social withdrawal, loss of speech, decreased motor function, and a decline in daily living skills. These sudden or gradual changes make early recognition crucial for intervention. With appropriate care and interventions, individuals may be able to work towards regaining daily skills and functional activities.
DSRD can be triggered by various factors, making it difficult to pinpoint a single cause. Research suggests that medical conditions such as autoimmune dysfunction, infections, or underlying thyroid issues may contribute to regression. Additionally, many family members have reported that psychological stressors, such as the loss of a loved one, a sibling leaving home, or significant disruptions in routine may also play a role.
Treatment for DSRD is largely multidisciplinary, requiring a collaborative approach among various healthcare professionals to address the complex needs of individuals affected. Neurologists and psychiatrists play a key role in diagnosing the condition and managing underlying medical and psychological factors, while speech-language pathologists may assist with communication difficulties that may arise. Physical therapists focus on improving mobility and strength due to changes with regression. Among these professionals, occupational therapists (OTs) are uniquely positioned to help individuals with DSRD regain independence by developing personalized interventions that can enhance daily living skills, sensory processing, and overall functional participation.
Why Occupational Therapy?
Fostering health, well-being, and active participation in life through meaningful engagement in occupation describes the profession of occupational therapy. This guiding principle reflects the profession's core belief that involvement in purposeful activities may enhance, support, and improve health.
The OT Scope of Practice
Occupations are the activities people engage in to occupy time and bring meaning and purpose to life (World Federation of Occupational Therapists, 2012). Occupations are categorized as:
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Activities of Daily Living: Activities that require taking care of one's own body.
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Bathing, showering
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Dressing
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Eating
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Personal hygiene
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Instrumental Activities of Daily Living: Activities that support daily life within the home and community environments.
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Meal preparation and cleanup
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Communication management
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Health Management:
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Physical activity
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Nutrition management
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Rest and Sleep
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Education
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Work
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Play
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Leisure
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Social Participation
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Friendships
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Peer group participation
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A person with DSRD may experience a sudden decline in their ability to complete essential daily tasks. For example, an individual who was once able to independently dress, groom, and prepare meals may struggle with motor coordination, sequencing, and initiation due to regression. An occupational therapist would implement targeted interventions to restore these skills, such as using adaptive equipment for dressing, modifying routines for meal preparation, and integrating sensory-motor activities to improve fine and gross motor functions. Additionally, an OT may work with caregivers to establish structured routines to support the individual's engagement in meaningful activities, promoting greater independence and participation in daily life.
Emerging research has demonstrated promising results in the use of intravenous immunoglobulin (IVIG) therapy for DSRD. When combined with OT interventions, IVIG treatment can help restore functional abilities and increase occupational performance.
Through these interventions, occupational therapists can uphold the values of dignity and independence, helping individuals with DSRD and their families navigate challenges and achieve meaningful participation in everyday life.
FOR PARENTS/CAREGIVERS
Caring for a loved one with DSRD can feel overwhelming, but you are not alone. This website was designed to provide you with the knowledge, tools, and support you need to help your child or family member thrive. Here, you will find resources to better understand DSRD, including links to current medical and therapeutic interventions.
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Experts have identified eight key symptom clusters that help assess the likelihood of DSRD. Suppose an individual meets the criteria for four or more clusters. In that case, further medical evaluation is recommended, while those with seven or eight clusters are more likely to receive a DSRD diagnosis. To aid in early identification, NDSS has developed a structured checklist that helps caregivers and healthcare providers recognize regression patterns.
FOR HEALTHCARE PROFESSIONALS
Recent advancements in DSRD research have highlighted the potential of intravenous immunoglobulin (IVIG) therapy as a promising treatment option. Dr. Jonathan Santoro, a leading pediatric neuroimmunologist, has conducted groundbreaking research demonstrating that patients with DSRD who exhibit inflammatory markers show significant improvement with IVIG treatment.
Healthcare professionals are encouraged to adopt a multidisciplinary approach when treating DSRD, integrating medical, rehabilitative, and psychosocial interventions. By combining IVIG interventions with skilled occupational therapy interventions, providers can maximize the potential for recovery and improve the quality of life for individuals with DSRD.
For more information on recent developments in DSRD research, see links below.
TOGETHER WE CAN MAKE A DIFFERENCE
Explore the resources, share your story, and help us build a community dedicated to fighting for those with DSRD. Your voice and participation are essential in advocating for better care for those affected by this condition.
About the Author
Emily Ducote
Doctor of Occupational Therapy Student
Emily
Emily will receive her Doctorate of Occupational Therapy from The University of St. Augustine for Health Sciences in April 2025. Emily's inspiration for this project came after her sister, Elizabeth, was diagnosed with DSRD while her family struggled to find answers for her sudden loss of independence. Emily was then motivated to create a capstone project dedicated to helping family members and caregivers understand this difficult diagnosis.
References
Ghaziuddin, N., Nassiri, A., & Miles, J. H. (2015). Catatonia in Down syndrome; A treatable cause of regression. Neuropsychiatric Disease and Treatment, . https://doi.org/10.2147/ndt.s77307
Mircher, C., Cieuta-Walti, C., Marey, I., Rebillat, A., Cretu, L., Milenko, E., Conte, M., Sturtz, F., Rethore, M., & Ravel, A. (2017). Acute regression in young people with Down syndrome. Brain Sciences, 7(12), 57. https://doi.org/10.3390/brainsci7060057
Regression & down syndrome. (n.d.). National Down Syndrome Society (NDSS). https://ndss.org/resources/regression-down-syndrome
Rosso, M., Fremion, E., Santoro, S. L., Oreskovic, N. M., Chitnis, T., Skotko, B. G., & Santoro, J. D. (2020). Down syndrome disintegrative disorder: A clinical regression syndrome of increasing importance. Pediatrics, 145(6), e20192939. https://doi.org/10.1542/peds.2019-2939
Santoro, J. D., Khoshnood, M. M., Nguyen, L., Vogel, B. N., Boyd, N. K., Paulsen, K. C., & Rafii, M. S. (2023). Alternative diagnoses in the work up of down syndrome regression disorder. Journal of Autism and Developmental Disorders. https://doi.org/10.1007/s10803-023-06057-9
Santoro, J. D., Patel, L., Kammeyer, R., Filipink, R. A., Gombolay, G. Y., Cardinale, K. M., Real de Asua, D., Zaman, S., Santoro, S. L., Marzouk, S. M., Khoshnood, M., Vogel, B. N., Tanna, R., Pagarkar, D., Dhanani, S., Ortega, M. D. C., Partridge, R., Stanley, M. A., Sanders, J. S., Christy, A., … Rafii, M. S. (2022). Assessment and diagnosis of Down syndrome regression disorder: International expert consensus. Frontiers in Neurology, 13, 940175. https://doi.org/10.3389/fneur.2022.940175
Santoro, J. D., Partridge, R., Tanna, R., Pagarkar, D., Khoshnood, M., Rehmani, M., Kammeyer, R. M., Gombolay, G. Y., Fisher, K., Conravey, A., El-Dahr, J., Christy, A. L., Patel, L., Manning, M. A., Van Mater, H., Rafii, M. S., & Quinn, E. A. (2022). Evidence of neuroinflammation and immunotherapy responsiveness in individuals with Down syndrome regression disorder. Journal of Neurodevelopmental Disorders, 14(1), 35. https://doi.org/10.1186/s11689-022-09446-w
Santoro, J. D., Spinazzi, N. A., Filipink, R. A., Hayati-Rezvan, P., Kammeyer, R., Patel, L., Sannar, E. A., Dwyer, L., Banerjee, A. K., Khoshnood, M., Jafarpour, S., Boyd, N. K., Partridge, R., Gombolay, G. Y., Christy, A. L., Real de Asua, D., Del Carmen Ortega, M., Manning, M. A., Van Mater, H., … Rafii, M. S. (2023). Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Translational Psychiatry, 13(1), 276. https://doi.org/10.1038/s41398-023-02579-z
Santoro, J. D., Pagarkar, D., Chu, D. T., Rosso, M., Paulsen, K. C., Levitt, P., & Rafii, M. S. (2021). Neurologic complications of Down syndrome: A systematic review. Journal of Neurology, 268(12), 4495–4509. https://doi.org/10.1007/s00415-020-10179-w
Santoro, J. D., Filipink, R. A., Baumer, N. T., Bulova, P. D., & Handen, B. L. (2022). Down syndrome regression disorder: updates and therapeutic advances. Current Opinion in Psychiatry, 36(2), 96–103. https://doi.org/10.1097/yco.0000000000000845
Santoro, J. D., Jafarpour, S., Khoshnood, M. M., Boyd, N. K., Vogel, B. N., Nguyen, L., Saucier, L. E., Partridge, R., Tiongson, E., Ramos‐Platt, L., Nagesh, D., Ho, E., Rosser, T., Ahsan, N., Mitchell, W. G., & Rafii, M. S. (2024). Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder. American Journal of Medical Genetics Part A, 194(5). https://doi.org/10.1002/ajmg.a.63524
Wang, S., Patel, L., Sannar, E. A., Khoshnood, M., Boyd, N. K., Mendez, L., Spinazzi, N. A., Quinn, E. A., Rafii, M. S., & Santoro, J. D. (2023). Adverse childhood experiences and the development of Down syndrome regression disorder. American Journal of Medical Genetics Part A, 191(7), 1769–1782. https://doi.org/10.1002/ajmg.a.63199
Worley, G., Crissman, B. G., Cadogan, E., Milleson, C., Adkins, D. W., & Kishnani, P. S. (2014). Down Syndrome Disintegrative disorder. Journal of Child Neurology, 30(9), 1147–1152. https://doi.org/10.1177/0883073814554654
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E-mail: emilyducotee@gmail.com