ArticleJournal of neurodevelopmental disorders2026
Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.
Article in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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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.
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Who cites it
3 citing papers in PubMed.
- Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.Neurology and therapy · 2026Article
- A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.Molecular genetics & genomic medicine · 2026Article
- When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case Report.International journal of molecular sciences · 2026Article
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7 authors.
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Abstract
backgroundPeople with Rett syndrome (RTT) have abnormal psychomotor skill development manifested by delay or failure to acquire skills, loss of skills, and potential regain of lost skills. This study aimed to provide detailed characterization of the frequency, timing, and trajectory of gain, loss, and regain of developmental skills in RTT.
methodsThe occurrence and time of gain, loss, and regain of 51 developmental skills was collected during in-person visits in the RTT Natural History Study from 1228 females with Classic RTT and a pathogenic loss-of-function variant in MECP2. The percentage of participants experiencing gain, loss, or regain events, mean and median age of event and time to event with confidence intervals, and the cumulative incidence curves were calculated and compared to normative data. One-year incidence of either gain or regain of each skill from 0 to 20 years old and one-year incidence of either gain or regain of any of 51 developmental skills was calculated.
resultsAcross skill domains, acquisition occurred more frequently for lower-level skills than more advanced skills, with a median age of gain before 2 years old and rarely after 6 years old. Loss of previously gained skills occurred in all skill domains, with highest frequency in fine motor and expressive language domains. For most skills, loss occurred early in life and within 2 years of gain, except for loss of gross motor skills which occurred at older ages and further from age of gain. Regain of lost skills was infrequent for most skills, occurred mainly before 6 years old, and within 2 years of loss. After 6 years old, the incidence of either gaining or regaining skills was low.
conclusionThese results reveal that most skill gain, loss, and regain in RTT occurs early in life and stabilizes after 6 years old, except for the continued loss of gross motor skills beyond 6 years. The lack of gain or regain of skills beyond 6 years old suggest that any functional gains in these skills after a clinical intervention would represent an important indicator of efficacy as a clinical trial endpoint in RTT.
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