Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Santoro, Stephanie L.; Cannon, Sheila; Capone, George T.; Franklin, Catherine; Hart, Sarah J.; Hobensack, Victoria L; Kishnani, Priya S.; Macklin, Eric A.; Manickam, Kandamurugu; McCormick, Andrew; Nash, Patricia; Oreskovic, Nicolas M.; Patsiogiannis, Vasiliki; Steingass, Katherine; Torres, Amy; Valentini, Diletta; Vellody, Kishore; Skotko, Brian G.

doi:10.1038/s41436-019-0706-8

Cited by 43 publications

(91 citation statements)

References 20 publications

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“…According to a recent database review, the causes of “unexplained regression in Down syndrome” (URDS) are largely unknown (Santoro et al, ). A clear pathophysiologic mechanism has not been identifi ed, and because the etiology continues to remain unclear, recommendations for medical evaluation, management, and treatment of URDS are limited.…”

Section: Establishing a Clinical Definition Will Support Future Reseamentioning

confidence: 99%

“…However, there are distinct differences between regression in DS related to autism and regression in DS related to Alzheimer's disease, and now URDS appears to represent an entity all its own. Based on casecontrol evidence, researchers propose a separate defi nition for URDS, which they say will provide a foundation for future research and investigation of underlying mechanisms (Santoro et al, ).…”

Section: Establishing a Clinical Definition Will Support Future Reseamentioning

confidence: 99%

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New Definition of Unexplained Regression in Down Syndrome Proposed

2020

American J of Med Genetics Pt A

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Section: Establishing a Clinical Definition Will Support Future Reseamentioning

confidence: 99%

Section: Establishing a Clinical Definition Will Support Future Reseamentioning

confidence: 99%

New Definition of Unexplained Regression in Down Syndrome Proposed

2020

American J of Med Genetics Pt A

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Section: Introductionmentioning

confidence: 99%

“…Down syndrome disintegrative disorder (DSDD) is a condition being increasingly recognized in individuals with Down syndrome (1,2), associated with rapid onset of severe cognitive decline, features of catatonia, development of new or worsening features of autism spectrum disorder, sleep difficulty, and psychiatric symptoms (3,4). DSDD has primarily been identified in adolescents and young adults with Down syndrome (4). While the entity of DSDD has been recognized across the Down syndrome medical community, there has been debate on the terminology to describe this condition with common terms including "regression", "unexplained regression", and "catatonia" in Down syndrome (4)(5)(6)(7).…”

Section: Introductionmentioning

confidence: 99%

“…DSDD has primarily been identified in adolescents and young adults with Down syndrome (4). While the entity of DSDD has been recognized across the Down syndrome medical community, there has been debate on the terminology to describe this condition with common terms including "regression", "unexplained regression", and "catatonia" in Down syndrome (4)(5)(6)(7). The etiology of this condition is also unknown, with some hypothesized causes including psychiatric disorders, untreated obstructive sleep apnea, and environmental stressors, and autoimmunity (4,5,(8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

et al. 2021

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Down syndrome disintegrative disorder (DSDD) is a condition of unknown etiology characterized by acute cognitive decline, catatonia, insomnia, and autistic features in individuals with Down syndrome. A prior report of four patients with DSDD suggested a potential autoimmune etiology based on the presence of autoantibodies and on successful treatment with immunotherapy that included intravenous immunoglobulin (IVIG). Herein, we present the case of an 8-year old girl who developed acute cognitive decline to a dementia-like state, insomnia, catatonia, and autistic features. In contrast to the four patients with DSDD above, she had no evidence of autoimmunity and presented at a younger age. Given the gravity of her acute deterioration and the exclusion of other etiologies, she was treated with immunotherapy presumptively. She responded with near complete resolution of symptoms, but demonstrated a pattern of mild decline as she approached each monthly dosing of IVIG and steroids, reversed by treatment. Mycophenolate mofetil (MMF) was therefore added, with stability throughout the month and the ability to taper off IVIG. After stopping IVIG, she had a mild recurrence of symptoms that again resolved with repeat IVIG followed by tapering off. Outcome was assessed at 2.5 years after presentation, at which time she was back to her premorbid condition, except for persistent tics off immunotherapy. This case supports the contention that patients with a rapid onset of severe symptoms consistent with DSDD, who have a thorough evaluation with the exclusion of other etiologies, may warrant a trial of immunotherapy with steroids, IVIG and/or other agents like MMF even in the absence of evidence of autoimmunity on standard evaluation.

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Genetic Counseling: Preconception, Prenatal, and Perinatal

Milunsky

2021

Genetic Disorders and the Fetus

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Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Cited by 43 publications

References 20 publications

New Definition of Unexplained Regression in Down Syndrome Proposed

New Definition of Unexplained Regression in Down Syndrome Proposed

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

Genetic Counseling: Preconception, Prenatal, and Perinatal

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