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Providing a working version of MECP2 — the gene mutated in most cases of Rett syndrome — to cells reversed disease-specific symptoms in a mouse model of a common, milder form of Rett syndrome, a study shows. However, female mice treated with this approach showed signs of excessive, toxic levels of MeCP2, the…
The richness and diversity of the gut’s microbial community, or microbiota, are reduced significantly after puberty and associated with greater disease severity in girls and young women with Rett syndrome, a study shows. These findings add to the growing body of evidence linking Rett syndrome and altered gut microbiota.
A gene therapy-like approach that provided a full-length MECP2 — the gene mutated in most cases of Rett syndrome — to cells safely and effectively lessened disease-specific symptoms in a mouse model of a milder form of Rett, a study shows. However, female mice treated with this approach showed…
Elevated levels of two neuroprostanes — markers of oxidative stress, a result of insufficient antioxidant defenses against toxic free radicals — are linked with symptom severity and type of mutations in people with Rett syndrome, a study reports. These findings support the potential of the neuroprostanes as biomarkers to…
According to their parents, children with Rett syndrome have diminished quality of life (QoL) across all measured dimensions, a study found. In the study’s parent-reported assessments, the neurodevelopmental disorder was associated with reduced family functioning, and with physical, emotional, and psychological symptoms that impact the children’s…
TSHA-102, an experimental gene therapy for Rett syndrome, safely and effectively normalized levels of MeCP2 — the protein missing or defective in most Rett patients — in the brain and significantly improved survival in a mouse model of the disease, a study shows. Notably, the data suggest this investigational treatment can…
The International Rett Syndrome Foundation (IRSF) has designated 15 clinics across the U.S. as members of the Center of Excellence Network. These 15 centers, some newly designated and located in 14 states across the country, will integrate the foundation’s network of clinics designed to provide best-in-class care for people…
Skin conductance — the electrical activity on the surface of the skin in response to stimuli, as measured using wrist-worn devices — is indicative of changes in emotions and behaviors that affect the autonomic nervous system of Rett syndrome patients, a pilot study reports. Together, these alternations are known as…
A study suggests lower intake of dietary protein is associated with more severe growth deficits in Taiwanese children with Rett syndrome. While dystonia — uncontrolled movements due to muscle contractions — increased with age, it did not affect growth, the scientists…
People with Rett syndrome who grind their teeth during the day had a higher incidence of dental treatment, particularly restorations, than those who did not, an international database study reported. The findings also showed that patients fed orally had more dental…
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