Lamotrigine in Rett syndrome: Treatment experience from a pilot study

Stenbom, Y.; Tonnby, B.; Hagberg, B

doi:10.1007/s007870050045

Cited by 35 publications

(19 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Carbamazepine is generally tolerated well, but may produce agitation or self-abusive behavior in some girls. Lamotrigine has also proved effective [Uldall et al, 1993;Stenbom et al, 1998]. …”

Section: Seizuresmentioning

confidence: 99%

Clinical trials and treatment prospects

Percy

2002

Ment. Retard. Dev. Disabil. Res. Rev.

View full text Add to dashboard Cite

Prospects for definitive therapeutic intervention for Rett syndrome (RS) have been elevated by the discovery of mutations in the methyl-CpG-binding protein 2 gene (MECP2) in more than 80% of females meeting clinical criteria for this disorder. As such, a review of previous clinical trials, descriptions of the status of clinical management for the prominent medical problems of RS, and a preview of an ongoing clinical trial conducted jointly at the Baylor College of Medicine and the University of Alabama at Birmingham are presented. The conduct of controlled clinical trials requires adherence to diagnostic criteria for RS; stratification by age, stage, and presence of MECP2 mutations; and use of clearly defined outcome measures. Previous clinical trials in RS have been conducted with L-carnitine, the ketogenic diet, and the opiate antagonist, naltrexone. The L-carnitine and naltrexone trials were double blind, placebo-controlled and us ed the motor behavioral analysis described in this review. All failed to provide evidence of dramatic improvements in the clinical features of RS. Specific recommendations are presented for clinical management of growth failure, breathing irregularities, seizures, ambulation, scoliosis, gastrointestinal function, self abuse, and habilitation/education although systematic evaluations of each in the context of RS have not been conducted. The only ongoing trial involves dietary supplementation with folate and betaine and is based on the finding that gene expression of some alleles of the agouti gene could be altered by dietary methyl supplementation. The availability of animal models expressing mutations in MECP2 should enhance the evaluation of innovative therapies for RS.

show abstract

Section: Seizuresmentioning

confidence: 99%

Clinical trials and treatment prospects

Percy

2002

Ment. Retard. Dev. Disabil. Res. Rev.

View full text Add to dashboard Cite

show abstract

“…Other studies have used video to investigate the effectiveness of hand splints on stereotypical hand movements and functional hand use (Bumin, Uyanik, Kayihan, Duger, & Topcu, 2002) and anti-epileptic medication on seizure frequency (Stenbom, Tonnby, & Hagberg, 1998) and to evaluate a music therapy intervention (Yasuhara & Sugiyama, 2001). Retrospective observational studies of home movies have provided opportunities to identify early onset signs in RTT before the child's difficulties become fully apparent Burford & Trevarthen, 1997;Einspieler, Kerr, & Prechtl, 2005a;Einspieler et al, 2005b).…”

Section: Introductionmentioning

confidence: 99%

Development of a Video-based Evaluation Tool in Rett Syndrome

Fyfe

Downs

Mcilroy

et al. 2006

J Autism Dev Disord

View full text Add to dashboard Cite

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT.

show abstract

“…11 Lamotrigine has been reported as being effective in some studies, 14,29e31 with a positive effect on alertness and concentration. 30 Nevertheless, one paper reports a less favourable effect. 13 Huppke et al 13 described sulthiame as being very effective in RTT, nevertheless, it was not administered to any of our patients since it is not available in Italy.…”

Section: Discussionmentioning

confidence: 99%