Cited by 100Attention Deficit Hyperactivity DisorderGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

A double‐blind, parallel, multicenter comparison of L‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

Torrioli, M. Giulia, Vernacotola, Silvia, Peruzzi, Laura, Tabolacci, Elisabetta, Mila, Montserrat, Militerni, Roberto, Musumeci, Sebastiano, Ramos, Feliciano J. +13 more·2008·American Journal of Medical Genetics Part A

Abstract

Attention deficit hyperactivity disorder (ADHD) is a frequent behavioral problem in young boys with fragile X syndrome (FXS), and its treatment is critical for improving social ability. The short‐term efficacy of stimulant medications like methylphenidate (MPH) is well established in children with ADHD. FXS boys treated with MPH have improved attention span and socialization skills; however their mood becomes unstable at higher doses. Therefore, alternative pharmacological treatment of ADHD symptoms is desirable. A recent study showed that carnitine has a beneficial effect on the hyperactive–impulsive behavior in boys with ADHD without side effects. Our previous placebo‐controlled trial indicated that L‐acetylcarnitine (LAC) reduces hyperactivity in FXS boys. The objective of this study was to determine the efficacy of LAC in a larger sample of FXS boys with ADHD. The study design was randomized, double blind placebo controlled, parallel, and multicenter (with eight centers involved in Italy, France, and Spain). Sixty‐three FXS males with ADHD (aged 6–13 years) were enrolled; 7 patients dropped out, 56 completed the one‐year treatment, and 51 were included in the statistical analysis. Both groups improved their behavior, showing that psychosocial intervention has a significant therapeutic effect. However, we observed a stronger reduction of hyperactivity and improvement of social behavior in patients treated with LAC, compared with the placebo group, as determined by the Conners' Global Index Parents and the Vineland Adaptive Behavior Scale. Our results show that LAC (20–50 mg/kg/day) represents a safe alternative to the use of stimulant drugs for the treatment of ADHD in FXS children. © 2008 Wiley‐Liss, Inc.

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Crossref · 10.1002/ajmg.a.32268

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  • In boys with fragile X syndrome, acetyl-l-carnitine produced significant amelioration of hyperactivity and adaptive behavior compared with placebo, but did not change FMR1 methylation state or increase gene expression.

    “A significant amelioration of the hyperactivity and adaptive behavior of drug-treated boys (compared with those treated with placebo) was observed; however, the methylation state of FMR1 did not change, and the expression of the gene did not increase (100).”

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Authors
Torrioli, M. G., Vernacotola, S., Peruzzi, L., Tabolacci, E., Mila, M., Militerni, R., Musumeci, S., Ramos, F. J., Frontera, M., Sorge, G., Marzullo, E., Romeo, G., Vallee, L., Veneselli, E., Cocchi, E., Garbarino, E., Moscato, U., Chiurazzi, P., D'Iddio, S., Calvani, M., & Neri, G.
Affiliations
  • Università Cattolica del Sacro Cuore (IT)
  • University of Naples Federico II (IT)
  • Universidad de Zaragoza (ES)
  • University of Catania (IT)
  • Istituto Giannina Gaslini (IT)
  • Sigma Tau (Italy) (IT)
Corresponding author
Neri, Giovanni
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2008-02-19
Volume
146A
Issue
7
Pages
803-812
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W2025025319
Cited by
100
References
43
Citations by year
2024: 4 · 2023: 4 · 2022: 4 · 2021: 3 · 2020: 1 · 2019: 3 · 2018: 2 · 2017: 5 · 2016: 8 · 2015: 10 · 2014: 11 · 2013: 8 · 2012: 6
FWCI
7.26
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
Funders
Fondazione Telethon
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
acetyl-L-carnitine, fragile X syndrome, attention deficit hyperactivity disorder, hyperactivity, social behavior, children, L-carnitine
MeSH terms
Acetylcarnitine, Adolescent, Attention Deficit Disorder with Hyperactivity, Child, Double-Blind Method, Fragile X Syndrome, Humans, Male, Neuropsychological Tests, Placebos, Treatment Outcome

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