Resources
And Research Papers

• Breakthrough Study Links Blood-Brain Barrier Dysfunction and Inflammation With DSRD

  • Researchers led by Children’s Hospital of Los Angeles' Jonathan D. Santoro, MD, have identified signs of neuroinflammation and dysfunction of the blood-brain barrier among patients with Down syndrome Regression Disorder (DSRD).

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• Evidence-based consensus guidelines for the management of catatonia: Recommendations from the BAP

  • The British Association for Psychopharmacology provides comprehensive guidelines for managing catatonia, covering diagnosis, treatment, and special considerations for various patient groups. The guidelines emphasize the use of benzodiazepines and electroconvulsive therapy, along with other pharmacological and neuromodulatory therapies, to effectively manage this severe neuropsychiatric disorder.​​

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• Catatonia in Down syndrome; a treatable cause of regression

  • This research paper explores the clinical features, potential causes, and treatment responses of unexplained regression in adolescents and young adults with Down syndrome. It presents findings from a case series and emphasizes the need for systematic evaluation and multidisciplinary care to better understand and manage this underrecognised condition.

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• Acute Regression in Young People with Down Syndrome

  • This paper reviews cases of regression in individuals with Down syndrome and proposes the term “Down Syndrome Disintegrative Disorder” (DSDD) to describe the condition. It outlines common symptoms, possible causes, diagnostic challenges, and the need for greater clinical awareness and research into targeted treatments.

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• Down Syndrome Regression Disorder: short video resource

  • ​​This brief video introduces the Down Syndrome Regression Checklist, developed in partnership with the National Down Syndrome Society (NDSS), to assist caregivers and professionals in identifying and addressing regression symptoms in individuals with Down syndrome.

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• ​Catatonia: Definition, Causes, Symptoms & Treatment

  • This page explains catatonia as a rare but serious condition involving abnormal movement and behavior, often linked to psychiatric or medical conditions. It outlines symptoms, causes, diagnosis, and available treatments like benzodiazepines or ECT.

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• Catatonia and the immune system: a review

  • This paper provides an overview of catatonia in individuals with autism spectrum disorders (ASD). It discusses how catatonia can present in autistic individuals, challenges in diagnosis due to overlapping symptoms, potential causes, and treatment options—highlighting the importance of early recognition and tailored interventions such as benzodiazepines and ECT.

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• Catatonic Regression in ASD & other Neurodevelopmental Disorders

  • This PDF outlines key information on catatonia and regressive autism, focusing on its symptoms, early warning signs, potential causes, and the importance of early intervention. It highlights the overlap between autism and catatonia and provides guidance for caregivers and professionals in Ireland.

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• Bush-Francis Catatonia Rating Scale

  • This document is a training manual for the Bush-Francis Catatonia Rating Scale (BFCRS), providing guidance on identifying, scoring, and assessing catatonia symptoms in clinical settings using a standardized tool.

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• Obsessive slowness presenting as catatonia in a patient with Borderline Intelligence

  • This article discusses a case of obsessional slowness, a rare and disabling form of OCD, which can resemble catatonia. It highlights the diagnostic challenges in differentiating the two, especially in individuals with borderline intelligence, and emphasizes the need to consider OCD as a possible cause when catatonic-like symptoms are present.

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• Dystonic Movement Disorder as Symptom of Catatonia in Autism Spectrum Disorder

  • This case study describes a young autistic boy with low cognitive functioning who developed catatonia with unusual dystonic movements (involuntary, sustained, or repetitive muscle contractions). Despite diagnostic challenges and refusal of medication, nonpharmacological interventions—like restoring routines and reducing stress—led to full recovery. The report highlights the complexity of diagnosing catatonia in ASD, especially in lower-functioning individuals, and the importance of recognizing subtle or underreported symptoms.

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• Catatonia in Autism Spectrum Disorder

  • This article explains that catatonia can develop in individuals with autism, often presenting as a gradual loss of skills, slowed movement, and increased dependency. It outlines how to recognize early signs, differentiate catatonia from core ASD traits, and highlights the importance of early assessment. Treatment can include behavioral strategies, benzodiazepines (like lorazepam), and in severe cases, electroconvulsive therapy (ECT). Early intervention and trained professionals are critical to preventing worsening or life-threatening outcomes.

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• Catatonia - Royal College of Psychiatrists

  • ​The Royal College of Psychiatrists' webpage on catatonia provides comprehensive information about this serious condition affecting movement, speech, and behavior.

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• “Update on Catatonia” - Andrew Francis MD, PhD

  • ​​In this video, Dr. Andrew Francis provides an update on catatonia, discussing its clinical features, underlying causes, and treatment options. He emphasizes the importance of early recognition and intervention to improve patient outcomes.

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• A mystery illness stole their kids’ personalities. These moms fought for answers.

  • This article tells the story of Sara Smythe, a young woman with Down syndrome who, at 13, experienced a sudden and severe regression, losing her ability to speak and engage with others, eventually becoming catatonic. Her mother, Eileen Quinn, a developmental pediatrician, embarked on a 13-year journey to understand this mysterious condition, advocating for recognition and research into what is now known as Down Syndrome Regression Disorder (DSRD). Quinn's efforts, alongside other determined parents, have led to increased awareness, research initiatives, and the first clinical trials exploring treatments for DSRD, offering hope to affected individuals and their families.

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• Regression in Persons with Down Syndrome: Current Consensus Update for Families

  • This document is a 2023 consensus update for families about Down Syndrome Regression Disorder (DSRD). It outlines key symptoms (like loss of skills, slowed movement, and catatonia), potential causes (medical, psychiatric, neurologic, immune-related), recommended evaluations, and available treatments. It emphasizes early detection, expert consultation, and highlights ongoing clinical trials.

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• Evidence of neuroinfammation and immunotherapy responsiveness in individuals with down syndrome regression disorder

  • This study investigates Down Syndrome Regression Disorder (DSRD)—a sudden, unexplained loss of skills in individuals with Down syndrome. It found that nearly half of affected individuals showed abnormalities in EEG, MRI, or cerebrospinal fluid (CSF), suggesting a possible neuroinflammatory or autoimmune cause in some cases. Those with such abnormalities were four times more likely to respond to immunotherapy, particularly IVIg, compared to those without. The findings support early neurodiagnostic testing and indicate that immunotherapy may be effective, especially when neuroimmune dysfunction is present.

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• Under the Microscope: Unlocking the Mystery of Down Syndrome Regression Disorder

  • ​Dr. Jonathan Santoro is leading the first clinical trial for Down Syndrome Regression Disorder (DSRD), a rare condition causing sudden loss of skills. His research suggests a link to brain inflammation, with promising results from immune-based treatments like IVIG. The trial aims to find the most effective therapy and bring hope to affected families.

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• Updates on Down Syndrome Regression Disorder: What You Need to Know with Dr. Jonathan Santoro​​

  • ​Dr. Santoro discusses Down Syndrome Regression Disorder (DSRD), a condition where individuals with Down syndrome experience a sudden loss of cognitive and functional abilities. He highlights that DSRD may be linked to brain inflammation and notes that treatments like intravenous immunoglobulin (IVIG) have shown promise in improving symptoms. Dr. Santoro emphasizes the importance of early recognition and intervention to enhance outcomes for those affected.