ArticleJournal of autism and developmental disorders2013
Brief report: regression timing and associated features in MECP2 duplication syndrome.
Article in Journal of autism and developmental disorders, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Biobanking of Rett Syndrome and Related Disorders Protocol
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
16 citing papers in PubMed.
- Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.Orphanet journal of rare diseases · 2026Article
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Genome medicine · 2024Article
- Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.World journal of clinical cases · 2023Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Review
- Phenotypic features in MECP2 duplication syndrome: Effects of age.American journal of medical genetics. Part A · 2021Article
- Cortisol profiles and clinical severity in MECP2 duplication syndrome.Journal of neurodevelopmental disorders · 2020Article
- Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clinical genetics · 2019Article
- Article
- Elevated MeCP2 in Mice Causes Neurodegeneration Involving Tau Dysregulation and Excitotoxicity: Implications for the Understanding and Treatment of MeCP2 Triplication Syndrome.Molecular neurobiology · 2018Article
- Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Journal of psychiatric research · 2017Article
- Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome.Journal of child neurology · 2016Article
- Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes.Journal of child neurology · 2015Article
- Infectious and immunologic phenotype of MECP2 duplication syndrome.Journal of clinical immunology · 2015Article
- Epigenetics, autism spectrum, and neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- Genetic insights into the functional elements of language.Human genetics · 2013Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in "other skill" areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression.
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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.