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Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.

Publication ,  Journal Article
Santoro, JD; Partridge, R; Tanna, R; Pagarkar, D; Khoshnood, M; Rehmani, M; Kammeyer, RM; Gombolay, GY; Fisher, K; Conravey, A; El-Dahr, J ...
Published in: J Neurodev Disord
June 3, 2022

BACKGROUND: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention. METHODS: A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms. RESULTS: Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective. CONCLUSIONS: This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology.

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Published In

J Neurodev Disord

DOI

EISSN

1866-1955

Publication Date

June 3, 2022

Volume

14

Issue

1

Start / End Page

35

Location

England

Related Subject Headings

  • Retrospective Studies
  • Neuroinflammatory Diseases
  • Immunotherapy
  • Humans
  • Down Syndrome
  • Case-Control Studies
  • Activities of Daily Living
  • 3209 Neurosciences
  • 1701 Psychology
  • 1109 Neurosciences
 

Citation

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Santoro, J. D., Partridge, R., Tanna, R., Pagarkar, D., Khoshnood, M., Rehmani, M., … Quinn, E. A. (2022). Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord, 14(1), 35. https://doi.org/10.1186/s11689-022-09446-w
Santoro, Jonathan D., Rebecca Partridge, Runi Tanna, Dania Pagarkar, Mellad Khoshnood, Mustafa Rehmani, Ryan M. Kammeyer, et al. “Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.J Neurodev Disord 14, no. 1 (June 3, 2022): 35. https://doi.org/10.1186/s11689-022-09446-w.
Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, et al. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022 Jun 3;14(1):35.
Santoro, Jonathan D., et al. “Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.J Neurodev Disord, vol. 14, no. 1, June 2022, p. 35. Pubmed, doi:10.1186/s11689-022-09446-w.
Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, Kammeyer RM, Gombolay GY, Fisher K, Conravey A, El-Dahr J, Christy AL, Patel L, Manning MA, Van Mater H, Rafii MS, Quinn EA. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022 Jun 3;14(1):35.
Journal cover image

Published In

J Neurodev Disord

DOI

EISSN

1866-1955

Publication Date

June 3, 2022

Volume

14

Issue

1

Start / End Page

35

Location

England

Related Subject Headings

  • Retrospective Studies
  • Neuroinflammatory Diseases
  • Immunotherapy
  • Humans
  • Down Syndrome
  • Case-Control Studies
  • Activities of Daily Living
  • 3209 Neurosciences
  • 1701 Psychology
  • 1109 Neurosciences