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 journalArticle

4 Citations (Scopus)

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

Fingerprint

Oxidoreductases
Pharmacology
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Therapeutics
Muscle Hypotonia
Ubiquinone
Riboflavin
Carnitine
Secondary Prevention
Hearing
Language

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

Cite this

Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment. / Rosa, M.; Pascarella, A.; Parenti, G.; Buono, S.; Romano, A.; Della Casa, R.; Andria, G.; Marino, M.; Riccio, M. P.; Bravaccio, C.

In: European Journal of Paediatric Neurology, Vol. 16, No. 2, 03.2012, p. 203-205.

Research output: Contribution to journalArticle

Rosa, M, Pascarella, A, Parenti, G, Buono, S, Romano, A, Della Casa, R, Andria, G, Marino, M, Riccio, MP & Bravaccio, C 2012, 'Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment', European Journal of Paediatric Neurology, vol. 16, no. 2, pp. 203-205. https://doi.org/10.1016/j.ejpn.2011.07.003
Rosa, M. ; Pascarella, A. ; Parenti, G. ; Buono, S. ; Romano, A. ; Della Casa, R. ; Andria, G. ; Marino, M. ; Riccio, M. P. ; Bravaccio, C. / Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment. In: European Journal of Paediatric Neurology. 2012 ; Vol. 16, No. 2. pp. 203-205.
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