Rett syndrome
A perspective on “cure” for Rett syndrome
... Gene editing is a powerful new technology that could correct most of the MECP2 mutations causing Rett syn- drome. It could overcome the ‘Goldilocks’ issue and would work in both males and females. Gene editing ...
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Automatic cortical representation of auditory pitch changes in Rett syndrome
... of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication ...with ...
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Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
... Several studies report a high prevalence of anxiety and mood disturbances in RTT, such as self-abuse, scream- ing episodes, abrupt mood changes, and inconsolable crying [15, 16, 24–29]. Mount and colleagues made a major ...
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Oral health experiences of individuals with Rett syndrome: a retrospective study
... Rett syndrome (RTT) is a neurodevelopmental disorder affecting mostly females [1, 2] and occurring in 1 in 9000 females ...Andreas Rett in 1966 [4], the condition did not become known in the English ...
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Sustained Attention in the Face of Distractors: A Study of Children with Rett Syndrome
... Rett syndrome (Rett, 1966) is a severely disabling, x-linked neurodevelopmental disorder characterized by apparently normal early development followed by developmental regression between 6 and 18 ...
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Fatty Acids and Autism Spectrum Disorders: The Rett Syndrome Conundrum
... [9] K. Miyake, C. Yang, Y. Minakuchi, K. Ohori, M. Sou- tome, T. Hirasawa, Y. Kazuki, N. Adachi, S. Suzuki, M. Itoh, Y. I. Goto, T. Andoh, H. Kurosawa, M. Oshimura, M. Sasaki, A. Toyoda and T. Kubota, “Comparison of ...
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Developmental delay in Rett syndrome: data from the natural history study
... in Rett syndrome (OMIM #312750) and may be more apparent than ...the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of developmental skills or abilities in classic ...
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MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives
... Abstract: Rett syndrome (RTT), an X-linked neurodevelopment disorder, occurs in approxi- mately one out of 10,000 females. Individuals afflicted by RTT display a constellation of signs and symptoms, ...
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Oral findings in Rett syndrome: An update and review of the literature
... in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to Euro- pean Paediatric Neurology Society Meeting, Baden-Baden, Ger- many, 11 September ...
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Management of epilepsy in patients with Rett syndrome: perspectives and considerations
... Abstract: Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of acquired motor skills, loss of purposeful activity, hand stereotypies, loss of acquired ...
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PTP1B inhibition suggests a therapeutic strategy for Rett syndrome
... disorder Rett syndrome (RTT) presents with autistic features and is caused primarily by mutations in a transcriptional regulator, methyl CpG–binding protein 2 ...
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RELATED ASPECTS OF CLINICAL GENETICS AND RETT SYNDROME EVOLUTION
... In the clinical picture of RS, many changes are observed that lead us to suppose some type of autonomic dysfunction. Julu et al 17 observed, from this point of view, 17 girls with RS. Her work showed that the vagal tone ...
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Twenty years of surveillance in Rett syndrome: what does this tell us?
... Our cross-sectional analyses used the largest sample size to date for investigating health and wellbeing in adult- hood. Seizures are common in Rett syndrome and not surprisingly, almost two-thirds ...
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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study
... in Rett syn- drome [8, ...with Rett syndrome using remote cardio- respiratory event monitoring in the home environment found that no dominant pattern emerged, but each indi- vidual demonstrated their ...
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Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
... clinician-completed syndrome-specific measures (RTT Motor Behavioral Assessment [MBA], RTT Domain Specific Concerns–Visual Analog Scale); (2) clinician-completed syndrome-specific global measures (Clinical ...
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Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report
... 11. Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, ...
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Clinical and Genetic Rett Syndrome Variants are Defined by Stable Electrophysiological Profiles
... Despite being the first report on the electrophysio- logical characterization of Rett Syndrome variants, the current study was limited by a relatively small number of the rare subtypes of RTT. This may have ...
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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
... The covariates included age group, gender, mutation type and for comparative purposes the type of disorder (CDKL5 disorder and Rett syndrome). Age at registration to ICDD was grouped into three categories ...
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Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
... Rett syndrome phenotype development within life Typical development of RTT starts with an “asymptom- atic” first stage followed by decreased, arrested and re- tarded development of motor and communication ...
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PTP1B: a new therapeutic target for Rett syndrome
... Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that is characterized by successive loss of acquired cognitive, social, and motor skills and development of autistic ...
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