Cargando…

Developmental delay in Rett syndrome: data from the natural history study

BACKGROUND: Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of developmental skills or abilities in classic and atypical RTT and assess phenotype-gen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Neul, Jeffrey L, Lane, Jane B, Lee, Hye-Seung, Geerts, Suzanne, Barrish, Judy O, Annese, Fran, Baggett, Lauren McNair, Barnes, Katherine, Skinner, Steven A, Motil, Kathleen J, Glaze, Daniel G, Kaufmann, Walter E, Percy, Alan K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112822/ https://www.ncbi.nlm.nih.gov/pubmed/25071871 http://dx.doi.org/10.1186/1866-1955-6-20

Ejemplares similares

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings
por: Neul, Jeffrey L., et al.
Publicado: (2020)

When Rett syndrome is due to genes other than MECP2
por: Percy, Alan K., et al.
Publicado: (2018)

Multisystem comorbidities in classic Rett syndrome: a scoping review
por: Fu, Cary, et al.
Publicado: (2020)

Consensus guidelines on managing Rett syndrome across the lifespan
por: Fu, Cary, et al.
Publicado: (2020)

A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome
por: Percy, Alan K., et al.
Publicado: (2023)

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2
por: Sajan, Samin A., et al.
Publicado: (2016)

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na(+)-channel-blocking antiepileptic drugs
por: Herrera, José A., et al.
Publicado: (2015)

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome
por: Ward, Christopher S., et al.
Publicado: (2016)

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
por: Glaze, Daniel G., et al.
Publicado: (2019)

Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome
por: Thapa, Santosh, et al.
Publicado: (2021)

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
por: Buchanan, Caroline B., et al.
Publicado: (2022)

Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
por: Neul, Jeffrey L., et al.
Publicado: (2023)

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence
por: Jefferson, Amanda, et al.
Publicado: (2016)

Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study
por: Neul, Jeffrey Lorenz, et al.
Publicado: (2023)

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
por: Neul, Jeffrey L., et al.
Publicado: (2023)

The relationship of Rett syndrome and MECP2 disorders to autism
por: Neul, Jeffrey Lorenz
Publicado: (2012)

Developmental Dynamics of Rett Syndrome
por: Feldman, Danielle, et al.
Publicado: (2016)

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort
por: Fang, Xiaolan, et al.
Publicado: (2022)

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges
por: Kaufmann, Walter E., et al.
Publicado: (2016)

Progress in Rett Syndrome: from discovery to clinical trials
por: Percy, Alan K.
Publicado: (2016)

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
por: Collins, Bridget E, et al.
Publicado: (2022)

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
por: Brown, Madalyn, et al.
Publicado: (2019)

Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome
por: Collins, Bridget E., et al.
Publicado: (2021)

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review
por: Spagnoli, Carlotta, et al.
Publicado: (2021)

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
por: Barnes, Katherine V., et al.
Publicado: (2015)

Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome
por: O'Leary, Heather M., et al.
Publicado: (2018)

Rett syndrome
por: Sitholey, Prabhat, et al.
Publicado: (2005)

Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome
por: Shovlin, Stephen, et al.
Publicado: (2022)

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives
por: Cuddapah, Vishnu Anand, et al.
Publicado: (2015)

Changing the perspective on early development of Rett syndrome
por: Marschik, Peter B., et al.
Publicado: (2013)

GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes
por: Chao, Hsiao-Tuan, et al.
Publicado: (2010)

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?
por: Marschik, Peter B., et al.
Publicado: (2012)

Simple Energy Balance or Microbiome for Childhood Obesity Prevention?
por: Baranowski, Tom, et al.
Publicado: (2021)

Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth
por: Lozovaya, N., et al.
Publicado: (2019)

Preclinical research in Rett syndrome: setting the foundation for translational success
por: Katz, David M., et al.
Publicado: (2012)

Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders
por: Drobnyk, Wendy, et al.
Publicado: (2019)

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
por: Tascini, Giorgia, et al.
Publicado: (2022)

Delayed Ventricular Repolarization and Sodium Channel Current Modification in a Mouse Model of Rett Syndrome
por: Cheng, Hongwei, et al.
Publicado: (2022)

Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro
por: Baj, Gabriele, et al.
Publicado: (2014)

The Israeli Rett Syndrome Center. Evaluation and Transdisciplinary Play-Based Assessment
por: Lotan, Meir, et al.
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_v20ldtf6m1fgc93pmcp5k3ldpt