Wiki Number: PW189
Diagnosis: Rett Syndrome
World Patients: 1 in 8500 girls.
Sex Ratio: G only; B’s don’t survive birth or, at best, two years. No known cure. Girls may live until age 40.
Age Onset: 6-12 months; ages 1-4 loses hand and language skills; motor problems and seizures; spine curves, muscle weakness, walking gone?
Brain Area: MECP2 gene on the X-chromosome; mostly new genetic mutations, not inherited; less norepinephrine; poorer locus coeruleus cells
Symptoms: girls with smaller heads, slower growth, difficulty walkng; repetitious moves, may have seizures, scholiosis and sleeping problems
Causes: genetic; gene therapy through animal studies is underway.
Medications: anticonvulsants for seizures
Therapies: Braces, physiotherapy and special education.
4 CURRENT ARTICLES
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PubMed article’s summary-abstract.
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disordersby Clara Xiol on October 13, 2021
Rett syndrome (RTT) is a severe neurodevelopmental disorder that constitutes the second most common cause of intellectual disability in females worldwide. In the past few years, the advancements in genetic diagnosis brought by next generation sequencing (NGS), have made it possible to identify more than 90 causative genes for RTT and significantly overlapping phenotypes (RTT spectrum disorders). Therefore, the clinical entity known as RTT is evolving towards a spectrum of overlapping phenotypes...
- Mitochondrial DNA Copy Number in Rett Syndrome Caused by MECP2 Variantsby Siwen Liu on October 7, 2021
CONCLUSIONS: The mtDNA copy number of RTT patients has increased significantly, suggesting that changes in mitochondrial function in RTT patients trigger a compensatory increase in mtDNA copy number, and providing new possibilities for RTT treatments such as mitochondria-targeted therapies.
- The Chloride Homeostasis of CA3 Hippocampal Neurons Is Not Altered in Fully Symptomatic Mepc2-null Miceby Yasmine Belaïdouni on October 4, 2021
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused mainly by mutations in the MECP2 gene. Mouse models of RTT show reduced expression of the cation-chloride cotransporter KCC2 and altered chloride homeostasis at presymptomatic stages. However, whether these alterations persist to late symptomatic stages has not been studied. Here we assess KCC2 and NKCC1 expressions and chloride homeostasis in the hippocampus of early [postnatal (P) day 30-35] and late (P50-60) symptomatic...
- Skype Supervised, Individualized, Home-Based Rehabilitation Programs for Individuals With Rett Syndrome and Their Families - Parental Satisfaction and Point of Viewby Meir Lotan on October 4, 2021
Individuals with Rett syndrome (RTT) experience impaired gross motor skills limiting their capacity. Therefore, they need support to participate in physical activities, and it is crucial to work with primary caregivers when developing appropriate strategies, thereby leading to an active lifestyle. There is limited evidence supporting the effectiveness of remotely supported physical activity interventions. This project aimed to evaluate the effects of a skype-based, telehealth-delivered physical...