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Medium-term open label trial of L-carnitine in Rett syndrome

  • Carolyn J Ellaway
    Affiliations
    Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Sydney, Australia

    Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia
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  • Jennifer Peat
    Affiliations
    Department of Clinical Epidemiology, Royal Alexandra Hospital for Children, Sydney, Australia
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  • Katrina Williams
    Affiliations
    Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia

    Department of Clinical Epidemiology, Royal Alexandra Hospital for Children, Sydney, Australia
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  • Helen Leonard
    Affiliations
    Centre for Child Health Research, The University of Western Australia (TVW Telethon Institute for Child Health Research), West Perth, Australia
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  • John Christodoulou
    Correspondence
    Corresponding author. Western Sydney Genetics Program, Children’s Hospital at Westmead (Sydney), Locked Bag 4001, Westmead, NSW 2145, Australia. Tel.: +61-2-9845-3452; fax: +61-2-9845-1864
    Affiliations
    Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Sydney, Australia

    Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Search for articles by this author

      Abstract

      Treatment strategies in Rett syndrome so far have been essentially symptomatic and supportive. In order to establish the medium-term effects of L-carnitine, an open label trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. Compared with the Rett syndrome controls, treatment with L-carnitine led to significant improvements in sleep efficiency (P=0.027), especially in the subjects with a baseline sleep efficiency less than 90%, energy level (P<0.005) and communication skills (P=0.004). There was no significant difference in the subject's level of physical activity, hand function or in the quality of life of the subject's parents. In addition, before and after comparisons of the treatment group showed improvements in expressive speech (P=0.011). Treatment with L-carnitine seems to be of significant benefit in a subgroup of girls with Rett syndrome. In these girls, small but discernible improvements may be of considerable importance to their parents and carers.

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      References

        • Ellaway C.J.
        • Williams K.
        • Leonard H.
        • Higgins G.
        • Wilcken B.
        • Christodoulou J.
        Rett syndrome: randomised controlled trial of L-carnitine.
        J Child Neurol. 1999; 14: 162-167
        • Leonard H.
        • Bower C.
        • English D.
        The prevalence and incidence of Rett syndrome in Australia.
        Eur Child Adolesc Psychiatry. 1997; 6: 8-10
      1. Ellaway CJ, Peat J, Christodoulou J. Development of the Rett syndrome: symptom index score. World Congress on Rett Syndrome Karuizawa, Japan, July, 2000.

        • Burd L.
        • Cook J.
        • Randall T.
        The hand apraxia scale.
        Percept Mot Skills. 1990; 70: 219-224
        • Sherman W.M.
        • Morris D.M.
        • Kirby T.E.
        • Petosa R.A.
        • Smith B.A.
        • Frid D.J.
        • et al.
        Evaluation of commercial accelerometer (Tritrac-R3D) to measure energy expenditure during ambulation.
        Int J Sports Med. 1998; 19: 43-47
        • Ware J.E.
        • Snow K.K.
        • Kosinski M.
        • Gandek B.
        SF-36 health survey manual and interpretation guide. The Health Institute, New England Medical Center, Boston, MA1993
        • Christodoulou J.
        • Teo S.H.
        • Hammond J.
        • Sim K.G.
        • Hus B.Y.
        • Stanley C.A.
        • et al.
        First prenatal diagnosis of the carnitine transporter defect.
        Am J Med Genet. 1996; 66: 21-24
        • Breningstall G.N.
        Carnitine deficiency states.
        Pediatr Neurol. 1990; 6: 75-81
        • Magistretti P.J.
        • Pellerin L.
        • Rothman D.L.
        • Shulman R.G.
        Energy on demand.
        Science. 1999; 283: 496-497