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.
S. Rinella, Gennaro Anastasio, A. Sapuppo et al.· Frontiers in Medicine· 0 citations
Epilepsy associated with periventricular nodular heterotopia (PVNH) frequently begins in childhood and often proves refractory to medication. Surgical management is challenging, as lesions are frequently deep-seated or bilateral, and seizure onset often involves networks extending beyond the heterotopic tissue itself, with the precise contribution of the nodules varying between patients. This systematic review synthesises all available evidence on neurosurgical and invasive interventions for childhood-onset PVNH-associated epilepsy, focusing on outcomes and prognostic factors. We conducted a PRISMA 2020-compliant systematic review searching PubMed/MEDLINE, Scopus, and Web of Science from inception to 13 December 2025. Eligible studies reported neurosurgical interventions in patients with MRI- or histopathology-confirmed PVNH whose epilepsy began before age 18, with outcomes reported using Engel or ILAE classification. Two reviewers independently screened and extracted data. Methodological quality was appraised using GRADE. Findings were synthesised narratively due to the inherent heterogeneity of the included studies. Thirty studies comprising 134 patients met our inclusion criteria. Excellent outcomes, defined as seizure freedom or auras only, were achieved in 50.7% (n = 68), with 76.9% (n = 103) experiencing meaningful benefit, defined as at least a 50% reduction in seizure frequency. Outcomes were better in unilateral than bilateral PVNH (75.9%vs 33.8%, p < 0.001) and with complete rather than incomplete nodule removal (72.9%vs 25.0%, p < 0.001). Permanent morbidity was 10.4% (n = 14), predominantly visual field deficits. Invasive EEG-guided approaches can achieve seizure freedom in around half of children with PVNH-related epilepsy, with outcomes strongly predicted by laterality. As with all subgroup comparisons in this review, reported p-values reflect effect size across pooled retrospective cohorts rather than formal hypothesis testing. Minimally invasive ablation appears effective and safe, while neuromodulation offers palliation where curative treatment is not feasible. Evidence remains limited by retrospective study designs and small sample sizes, and prospective multicentre data are needed.
Srishruthi Thirumalai, D. Champsas, M. L. Bianco et al.· Seizure· 0 citations
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