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Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome [PDF]
Human Vaccines & ImmunotherapeuticsRett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with
Ludovica Soldateschi +14 more
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Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome [PDF]
Frontiers in NeurologyBackgroundIn children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities.MethodsThis was a prospective longitudinal study conducted at the Danish ...
Anne-Marie Bisgaard +6 more
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Nature Reviews Disease PrimersRett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
Asuncion RMD, Ramani PK.
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Validating the Rett Syndrome Gross Motor Scale. [PDF]
PLoS ONE, 2016 Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this ...
Jenny Downs +6 more
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Molecular Syndromology, 2011 Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in <i>MECP2 ...
Smeets, Eric, Pelc, Karine, Dan, Bernard
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Evaluation Tools Developed for Rett Syndrome
Diagnostics, 2023 Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several ...
Meir Lotan +3 more
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Trofinetide—a new chapter in rett syndrome’s treatment
Frontiers in Pharmacology, 2023 Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies.
Muhammad Furqan
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Indian Journal of Psychiatry, 2005 Rett syndrome is a rare, progressive, neurodevelopmental disorder that has been reported only in the girl child. We describe the case of a 6.9-year-old girl with Rett syndrome. She had normal development till the age of 2 years. However, over the next 4-5 months, she lost her acquired, purposeful hand skills; expressive and receptive language; and ...
Sitholey, Prabhat +2 more
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PLoS ONE, 2023 Rett syndrome, a rare genetic neurodevelopmental disorder in humans, does not have an effective cure. However, multiple therapies and medications exist to treat symptoms and improve patients’ quality of life.
Pradyumna Byappanahalli Suresha +4 more
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Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease
Case Reports in Dentistry, 2022 Rett syndrome is a neurodevelopmental genetic X-linked disorder. It is predominantly found in females with a prevalence rate of 1 : 9000. Rett syndrome patients are usually healthy the first months of their lives.
Wisam Al-Hathlol +3 more
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