Original articleMedium-term open label trial of L-carnitine in Rett syndrome
Introduction
Treatment of a cohort of Rett syndrome (RS) females with L-carnitine over an 8-week period led to improvement in patient well-being and hand function [1]. In order to establish the medium-term effects of L-carnitine treatment, an open label trial was undertaken in a cohort of 21 females with RS. The study was designed using objective outcome measures, which included the newly designed and validated Rett syndrome: symptom severity index (RS: SSI), the hand apraxia scale, and a sleep diary. The SF-36 Health Survey was used to assess parental quality of life. In addition, objective measures of physical activity were made using TriTrac-R3D ergometers. A comparison group of 62 girls of similar age with RS completed the RS: SSI, the hand apraxia scale, a sleep diary and the SF-36 Health Survey over the 6-month trial period.
Section snippets
Methods
Subjects enrolled in the previous randomised controlled trial of L-carnitine [1] were invited to participate in a 6-month open label trial of L-carnitine. Twenty-one families agreed to participate in this study. For the RS control group, subjects were recruited from the Australian Rett Syndrome Register [2]. The 21 subjects were assessed prior to commencing the trial for the completion of the baseline assessments. For assessment of outcome, the RS: SSI [3], the hand apraxia scale [4], a 7
Results
All subjects who commenced the open label trial of L-carnitine and the 62 control subjects completed the study. The age range of the cases was 7–41 years, with a mean age of 14.4 years and a median age of 10 years. The age range for the control subjects was 4–30 years, with a mean age of 13.3 years and a median age of 13 years. The mean total plasma carnitine concentration at the commencement of the L-carnitine trial for the cases was 35.2 μmol/l, with a range of 16.0–54.0 μmol/l (normal range,
Discussion
Medium-term treatment of a cohort of RS patients with L-carnitine led to significant improvements in sleep efficiency, sleep latency, proportion of total sleep that occurred during the day, energy level, communication skills, expressive language and teeth grinding over a 6-month period. The improvement in sleep efficiency was most marked in the subjects whose baseline sleep efficiency was less than 90%. All subjects in this group had an improvement in sleep efficiency with a mean increase of
Acknowledgements
This study was supported financially by an NH&MRC Postgraduate PhD Scholarship and funds raised by the Rett Syndrome and Country Women's Associations of New South Wales, Australia.
References (9)
Carnitine deficiency states
Pediatr Neurol
(1990)- et al.
Rett syndrome: randomised controlled trial of L-carnitine
J Child Neurol
(1999) - et al.
The prevalence and incidence of Rett syndrome in Australia
Eur Child Adolesc Psychiatry
(1997) - Ellaway CJ, Peat J, Christodoulou J. Development of the Rett syndrome: symptom index score. World Congress on Rett...