Marisa Wexler, MS,  senior science writer—

Repetitive movements of rubbing the hands together are associated with an increased risk of skin injuries in people with Rett syndrome, but repetitive movements of raising the hands to the mouth are linked with better mobility in the shoulders and elbows. That’s according to the study, “…

The first woman with Rett syndrome given the gene therapy TSHA-102 has experienced improvements in her sleep, breathing, and motor skills in the first weeks since the treatment. That’s according to new data announced by Taysha Gene Therapies, the company developing TSHA-102. “We believe the initial safety profile…

Parents of children with Rett syndrome are able to detect disease-specific differences in the sounds made by babies who have not yet begun to speak. That’s according to a study, “Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations,” published in Research…

More than a quarter of men at large may carry mutations causing Rett syndrome in a portion of their sperm, a study suggests. The study, “MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males,”…

The Phase 1/2 REVEAL study, which is testing the investigational gene therapy TSHA-102 in women with Rett syndrome, is expected to dose its first participant in the next month or two, according to Taysha Gene Therapies, its developer. “Screening is completed, and dosing is now scheduled for our first…

Daybue (trofinetide) is now available in the U.S. to treat Rett syndrome in patients 2 and older, according to the therapy’s developer Acadia Pharmaceuticals. The announcement comes about a month after Daybue became the first therapy to be approved for Rett syndrome by the U.S.

Girls and women with Rett syndrome who participated in a three-month, at-home physical therapy program with occasional remote supervision met or exceeded most therapy goals and gained in motor abilities, a study reports. “The proposed activity programs … improved gross and fine motor skills, and enhanced the daily physical…

Acadia Pharmaceuticals’ trofinetide has become the first treatment to be approved by the U.S. Food and Drug Administration (FDA) for Rett syndrome. It will be marketed in the U.S. under the brand name Daybue, the company announced. The medication…

Mice with Rett syndrome show abnormalities in their brain circuitry that helps to control movement, which may contribute to motor dysfunction that often arises as a symptom of the disease, a new study reports. The results provide “novel in vivo [in living animals] evidence for abnormal motor circuit function”…

Analyzing babies’ vocalizations using machine learning could aid in the earlier diagnosis of Rett syndrome, a small study illustrates. Researchers say such vocal analysis among infants ages 6 to 11 months may help to identify signs of Rett, or fragile X syndrome, long before a child would typically…