Some people with Rett syndrome have an overabundance of nerve fibers associated with the senses in their skin, which may be linked to why some patients have cold hands and feet or are insensitive to pain, a small study found. The findings,…
A study in rats has provided new clues as to how the brain works to control body movements, which may have implications for disorders such as Rett syndrome. The study, “Strong neuron-to-body coupling implies weak neuron-to-neuron coupling in motor cortex,” was published in the journal Nature…
Mutations in the MECP2 gene, the underlying cause of Rett syndrome, affect genes that regulate several cellular functions, including inflammation, cellular stress responses, and organization of cellular structures. The study with that finding, “Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes,” was published in…
In the documentary “Minds Wide Open,” which spotlights advances in brain research, Monica Coenraad is cautiously hopeful about her daughter Chelsea’s future with Rett syndrome. “I don’t expect a 100 percent ‘like it never ever even happened’ cure for Chelsea, but I do think that there can be improvements,”…
Understanding protein alterations during the early phases of neuronal development may open the door to the development of new biomarkers and therapeutic strategies for Rett syndrome, a study says. The finding, “Quantitative proteomic alterations of human iPSC-based neuronal development indicate early onset of Rett syndrome,” was published in…
Physical therapy and other medical interventions, together with daily support from family and caregivers, can help adults with Rett syndrome maintain or even regain their motor skills, and remain physically active, a case report reveals. The report describes how reconstructive orthopedic surgery plus…
Investigational therapy trofinetide showed promising safety and efficacy results as a treatment for children and adolescents with Rett syndrome, according to recent data from a Phase 2 clinical trial. A Phase 3 trial is now planned for the second half of this…
Discovery and development of therapies for Rett syndrome requires better preclinical research practices and study design to raise the chances of success in the clinic, according to a study reviewing current therapy development efforts. The review study, “A Coordinated Attack: Rett…
Clinicians should provide more support and information to parents of girls with Rett syndrome throughout their entire rehabilitation program, according to a study. The study, “Parents’ perception of health care services for girls with Rett syndrome,” was published in the journal…
One injection per year of zoledronic acid (sold under the brand name Reclast) can help prevent bone deterioration and fractures in children with Rett syndrome, a clinical study shows. The study, “Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and…
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