ArticleJournal of developmental and physical disabilities2014
Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.
Article in Journal of developmental and physical disabilities, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.Current issues in molecular biology · 2024Article
- Emerging Verbal Functions in Early Infancy: Lessons from Observational and Computational Approaches on Typical Development and Neurodevelopmental Disorders.Advances in neurodevelopmental disorders · 2022Article
- Vocalisation Repertoire at the End of the First Year of Life: An Exploratory Comparison of Rett Syndrome and Typical Development.Journal of developmental and physical disabilities · 2022Article
- Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?Current developmental disorders reports · 2019Review
- Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome.Research in developmental disabilities · 2018Article
- Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.Developmental neurorehabilitation · 2018Article
- Behavioural biomarkers of typical Rett syndrome: moving towards early identification.Wiener medizinische Wochenschrift (1946) · 2016Article
- Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett Syndrome.Research in autism spectrum disorders · 2014Article
- Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.Research in developmental disabilities · 2014Article
- Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.Research in developmental disabilitiesArticle
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 5 countries.
Funding
Abstract
The first two years of life for children with Rett syndrome (RTT) have previously been viewed as relatively asymptomatic. However, it is possible that subtle symptoms may be present in early development. To identify possible early indicators of RTT, we analysed videotapes of two twin girls with RTT. The videotapes were analysed to (a) describe the motor and communicative development of this twin pair with RTT; and to (b) explore whether early abnormalities and their age of onset differed between the twins and were related to their later clinical phenotypes. The results indicated several neurodevelopmental abnormalities present before the children exhibited any obvious signs of regression. Abnormalities were evident in the motor, speech-language and communicative domains. These data support an emerging evidence base showing the presence of developmental abnormalities in children with RTT during the first year of life. The results have implications for early screening and clinical assessment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.