Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment

M. Rosa, A. Pascarella, G. Parenti, S. Buono, A. Romano, R. Della Casa, G. Andria, M. Marino, M. P. Riccio, C. Bravaccio

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: evaluate the psychomotor evolution of a child with Multiple acyl-CoA dehydrogenase deficiency after treatment with L-carnitine, ubiquinone and riboflavin. Methods: an assessment of psychomotor development was performed before the start of farmacological treatment using the Assessment Scale of Mental Development Griffiths (GMDS-R, 0-2 years). The same assessment was performed after a month and after six months of treatment to evaluate the possible benefits of treatment. Results: we noticed a quick and dramatic improvement in muscular tone and motor performances after pharmacological treatment. We also observed a substantial improvement in the personal/social and hearing/language areas, suggesting the presence of intellectual/cognitive improvement. The clinical improvement correlated with the biochemical response. Conclusion: In our patient early therapy resulted in a optimal response in psychomotor development, motor function and muscole hypotonia. Evaluation with GMDS-R, a simple, non-invasive and multidimensional tool, represents a useful instrument to monitor the clinical response to treatment.

Original languageEnglish
Pages (from-to)203-205
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Volume16
Issue number2
DOIs
Publication statusPublished - Mar 2012

Keywords

  • Assessment scale of mental development Griffiths
  • Multiple acyl-coenzymeA dehydrogenase deficiency
  • Psychomotor development
  • Riboflavin

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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