SynthesisFrontiers in medicine2026
Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.
Synthesis in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Congenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized. Objective: To synthesize current evidence on cognitive development, neuropsychological and quality-of-life (QoL) outcomes in pediatric CMs, including caregiver burden. Methods: A systematic review was conducted according to PRISMA guidelines and registered on PROSPERO (CRD420261373780). PubMed, Scopus, Web of Science and ClinicalTrials.gov were searched up to June 2026. Observational studies reporting neuropsychological or psychosocial outcomes in children with CMs were included. Results: 18 studies (104 patients; 56 caregivers) were included, predominantly case reports/series (72.2%). Cognitive outcomes were heterogeneous: most patients showed preserved intellectual functioning; however, beyond the expected motor impairment, some exhibited additional language or domain-specific deficits. More severe profiles were observed in ACTA1-related disease and selected rare genotypes, often associated with brain abnormalities. In contrast, cognition was largely preserved in X-linked myotubular myopathy, although adaptive functioning and QoL were frequently reduced. School outcomes were rarely reported. Caregiver data indicated a substantial and multidimensional burden. Conclusion: Neuropsychological and psychosocial outcomes in pediatric CMs are clinically relevant but understudied and heterogeneous across genotypes. Standardized, motor-adapted assessment should be integrated into multidisciplinary care. QoL evidence remains limited to XLMTM and SELENON-related myopathy. Prospective, genotype-stratified studies including longitudinal, academic, adaptive and caregiver outcomes are needed, particularly alongside emerging disease-modifying therapies. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/view/CRD420261373780, identifier CRD420261373780.
Indexed as
Identifiers
What Socratic 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 Socratic graph.