In 1999 it was discovered that mutations of the MECP2 (pronounced meck-pea-two) gene were associated with Rett syndrome. A study done in 2002 concluded that the type of mutation corresponded with whether the symptoms of Rett syndrome were mild or severe. Yet other studies could find no clear correlation. Studies show that anywhere from 70% to 80% of cases of the syndrome are caused by the MECP2 gene defect.
- Chae, J. H., Hwang, Y. S., & Kim, K. J. (2002). Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 17(1), pp. 33-36
- Huppke, P., Held, M., Hanefeld, F., Engel, w., & Laccone, F. (2002). Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 33(2), pp. 63-68
- Van den Veyver, I. B., & Zoghbi, H. Y. (2002). Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev 8(2), pp. 82-86.
Rett syndrome does occur in males
Rett syndrome has always been considered to occur only in females, with the thought that the male fetus with Rett syndrome did not survive. However, a number of studies have examined boys with Rett syndrome, or with the MECP2 gene defect often found in the syndrome. Boys with the MECP2 gene defect may show different symptoms than "classic" Rett syndrome. Researchers recommend that Rett syndrome remain a clinical diagnosis that should not be dismissed in boys.
- Leonard, H., Silberstein, J., Falk, R., Houwink-Manville, I., Ellaway, C., Raffaele, L. S., Engerstrom, I. W., & Schanen, C. (2001). Occurrence of Rett syndrome in boys. J Child Neurol 16(5), pp. 333-338.
- Zeev, B. B., Yaron, Y., Shcanen, N. C., Wolf, H., Brandt, N., Ginot, N., Shomrat, R., & Orr-Urtreger, A. (2002). Rett syndrome: Clinical manifestations in males with MECP2 mutations. J Child Neurol 17(1), pp. 20-24.
Hand splints may help control hand behavior in Rett syndrome
One of the most striking features of Rett syndrome are stereotypic hand-wringing or hand-washing movements. In one study, hands splints and one elbow restraint were used with four girls with the disorder. All of the girls demonstrated a decrease in stereotypic hand behavior after the application of the splints. The authors recommend further study.
- Bumin, G., Uyanik, M., Kayihan, H., Duger, T., & Topcu, M. (2002). The effect of hand splints on stereotypic hand behavior in Rett's syndrome. Turk J Pediatr 44(1), pp. 25-29.
Music therapy may help voluntary hand movement
Researchers used music therapy with three girls with Rett syndrome. They found the girls were able to purposefully grasp and hold on to items for longer periods with the therapy. The authors recommend further research.
- Yasuhara, A., & Sugiyama, Y. (2001). Music therapy for children with Rett syndrome. Brain Dev 23(Suppl 1), pp. S82-84.
Carnitine (Carnitor), Cerebrolysin, lamotrigine (Lamictal) show positive results
A study of 21 females with Rett syndrome who were treated with carnitine (Carnitor) showed significant improvements in sleep efficiency, energy level, and communication skills.
Nine girls with Rett syndrome were treated with Cerebrolysin. The girls showed increases in behavioral activity, attention level, motor functions, and social communication. Their brain wave patterns also changed toward normal values.
Two girls with Rett syndrome and seizures were treated with the anti-seizure drug lamotrigine (Lamictal). Surprisingly, not only were the seizures controlled, the stereotypical hand movements and autistic behaviors of Rett syndrome were markedly decreased. The authors recommend formal studies of treatment with this medication.
- Ellaway, C. J., Peat, J., Williams, K., Leonard, H., & Christodoulou, J. (2001). Medium-term open label trial of L-carnitine in Rett syndrome. Brain Dev 23(Suppl 1), pp. S85-89.
- Gorbachevskaya, N., Bashina, V., Gratchev, V., & Iznak, A. (2001). Cerebrolysin therapy in Rett syndrome: Clinical and EEG mapping study. Brain Dev 23(Suppl 1), pp. S90-93.
- Kumandas, S., Caksen, H., Ciftci, A., Ozturk, M., & Per, H. (2001). Lamotrigine in two cases of Rett syndrome. Brain Dev 23(4), pp. 240-242.
