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March 3, 2026SHILAP Revista de lepidopterología0 citationsOpen Access

Serum and cerebral folate are normal in Down Syndrome Regression Disorder

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JSJonathan D. SantoroMSMackenzie SilvermanLKLilia Kazerooni

Key Points

  • Serum and cerebral folate levels were found to be normal in individuals diagnosed with Down Syndrome Regression Disorder.
  • The findings indicate the absence of folate deficiency as a causative factor in regression symptoms, supporting the current understanding of the disorder.
  • This observational analysis suggests that other mechanisms may be implicated in the symptoms associated with Down Syndrome Regression Disorder.
  • These findings highlight the need for further research to identify alternative factors contributing to regression in this population.
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Cite This Study

Santoro et al. (2026) studied this question.

synapsesocial.com/papers/69a75cabc6e9836116a25b90https://doi.org/10.1186/s13229-026-00703-6
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption2011 · 46 citations
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  3. 3Evaluation of CSF albumin quotient in neuronal surface antibody-associated autoimmune encephalitis2022 · 21 citations
  4. 4Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features2010 · 59 citations
  5. 5Evidence of blood–brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder2025 · 11 citations