Trial reportPediatric neurology2014
Pubertal development in Rett syndrome deviates from typical females.
Trial report in Pediatric neurology, 2014. 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 30 papers, 3 of them syntheses that pooled it.
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.
Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Endocrine disorders in Rett syndrome: a systematic review of the literature.Frontiers in endocrinology · 2024Pooled it
- Quality of life related to clinical features in patients with Rett syndrome and their parents: a systematic review.Metabolic brain disease · 2018Pooled it
- Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.PloS one · 2016Pooled it
- Pubertal development and hypothalamic-pituitary-gonadal axis are altered in male mice lacking Mecp2.Journal of neuroendocrinology · 2026Article
- Article
- MECP2 Rare Variants in Boys With Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2026Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Journal of neurodevelopmental disorders · 2026Article
- Pubertal development is unaffected in femalemicroPublication biology · 2026Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Research square · 2025Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- Rett Syndrome: Thinking Beyond Brain Borders.Advances in experimental medicine and biology · 2025Review
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
- Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.Genes · 2024Observational
- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.Brain sciences · 2024Review
- Natural Course ofChildren (Basel, Switzerland) · 2023Article
- Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.The lancet. Diabetes & endocrinology · 2023Article
- Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome.Journal of neuroscience research · 2023Article
- Examination of pubertal timing and tempo in females and males with autism spectrum disorder compared to typically developing youth.Autism research : official journal of the International Society for Autism Research · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundRett syndrome is a unique neurodevelopmental disorder, affecting approximately one in 10,000 live female births, most experiencing reduced growth. We characterized pubertal trajectories in females with Rett syndrome. We hypothesized that pubertal trajectory deviates from the general female population with early pubertal onset and delayed menarche.
methodsParticipants were individuals enrolled in the Rett Syndrome Natural History Study with clinical diagnosis of Rett syndrome or mutations in MECP2. Intervals to thelarche, adrenarche, and menarche were assessed by survival analysis; body mass index, mutation type, clinical severity, and pubertal milestone relationships were assessed by log-likelihood test; pathway synchrony (relationship between thelarche, adrenarche, and menarche) was assessed by chi-squared analysis.
resultsCompared with the general female population, more than 25% initiated puberty early, yet entered menarche later (median age 13.0 years). A total of 19% experienced delayed menarche. Median length of puberty, from thelarche to menarche, was 3.9 years. Higher body mass index correlated with earlier thelarche and adrenarche but not menarche; milder mutations correlated with earlier menarche; and milder clinical presentation correlated with earlier thelarche and menarche. Fifty-two percent entered puberty in synchrony, but different from the general population, 15% led with thelarche and 32% with adrenarche.
conclusionsPubertal trajectories in Rett syndrome differ from general population, entering puberty early and reaching menarche later. Body mass index affects pubertal timing, but the relationship between specific mutations, clinical presentation, and underlying neuroendocrine pathology is less clear.
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What OpenQuestion holds
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.