Most children with congenital myopathies maintain preserved intellectual functioning despite varying neuropsychological profilesChildren with Congenital Myopathies Often Maintain Intellectual Functioning

Frontiers in Medicine Published August 7, 2026 DOI ↗ Editorial oversight: Dr. Amelia Tan, PhD · Internal Medicine & Chronic Disease

AI-generated summary of the cited source, checked by automated accuracy review. How we work

Key Takeaway

Note that while intellectual function is often preserved in congenital myopathies, neuropsychological profiles vary by genotype.

This systematic review synthesizes evidence regarding cognitive development, neuropsychological outcomes, and quality of life (QoL) in children with congenital myopathies (CMs), including ACTA1-related disease, X-linked myotubular myopathy (XLMTM), and SELENON-related myopathy. The review included data from 104 patients and 56 caregivers to evaluate outcomes such as adaptive functioning and caregiver burden.

Key findings indicate that most patients maintain preserved intellectual functioning, though some exhibit specific language or domain-specific deficits. Patients with ACTA1-related disease were found to have more severe neuropsychological profiles, often linked to brain abnormalities. In contrast, children with XLMTM showed largely preserved cognition, but frequently experienced reduced adaptive functioning and lower QoL scores. Caregivers reported a substantial and multidimensional burden.

The authors note several limitations, including heterogeneous cognitive outcomes and a lack of reporting on school outcomes. Quality of life data is only available for specific subtypes, namely XLMTM and SELENON-related myopathy. The evidence base is further limited by the high prevalence of case reports or series (72.2%).

Clinically, these findings suggest that while intellectual capacity is often preserved, neuropsychological profiles vary significantly by genotype. Standardized, motor-adapted assessments should be integrated into multidisciplinary care to address specific deficits and caregiver burden.

How this fits prior evidence

This systematic review addresses a gap in the comprehensive characterization of neurodevelopmental outcomes across different congenital myopathy genotypes. It extends the understanding of these conditions beyond physical symptoms by detailing cognitive preservation versus specific neuropsychological impairments. While it does not directly relate to the MTM1 mutation in X-linked centronuclear myopathy, it provides broader context on how various mutations, such as those in ACTA1 or SELENON genes, impact pediatric neurodevelopment.

This review looked at the cognitive development and quality of life for 104 children with various types of congenital myopathies. The study also included 56 caregivers to understand the impact on families. Because these conditions are rare, much of the data comes from individual case reports, which means results can vary significantly between patients.

For most children in the study, intellectual functioning was preserved. However, some children showed specific challenges with language or other areas. Children with ACTA1-related disease often showed more severe neuropsychological profiles, sometimes linked to brain abnormalities. In cases of X-linked myotubular myopathy, while intelligence was generally preserved, these children often faced lower scores in adaptive functioning and quality of life.

Caregivers reported a significant and multidimensional burden when caring for children with these conditions. Because the evidence is limited and varied, it is important to note that outcomes are not uniform across all types of myopathy. Doctors recommend using specialized, motor-adapted assessments to better understand each child's unique needs.

What this means for you:

Most children with congenital myopathies maintain intellectual function, though specific conditions vary in severity.

Common questions

Do children with these conditions have normal intelligence?

Most patients in the study showed preserved intellectual functioning. However, outcomes are not uniform across all genotypes. Some children may still experience specific deficits in areas like language or other specific domains.

How does ACTA1-related disease affect cognitive health?

Children with ACTA1-related disease were found to have more severe neuropsychological profiles. These cases are often associated with brain abnormalities, making the clinical picture different from other types of congenital myopathies.

What is the impact on caregivers?

The study found that caregivers experience a substantial and multidimensional burden when caring for children with these conditions. This highlights the importance of supporting families in managing the complexities of these diseases.

Study Details

Study typeMeta analysis

EvidenceLevel 1

PublishedAug 2026

View Original Abstract ↓

BackgroundCongenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized.ObjectiveTo synthesize current evidence on cognitive development, neuropsychological and quality-of-life (QoL) outcomes in pediatric CMs, including caregiver burden.MethodsA 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.Results18 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.ConclusionNeuropsychological 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 registrationhttps://www.crd.york.ac.uk/PROSPERO/view/CRD420261373780, identifier CRD420261373780.

Most children with congenital myopathies maintain preserved intellectual functioning despite varying neuropsychological profilesChildren with Congenital Myopathies Often Maintain Intellectual Functioning

How this fits prior evidence

Common questions

Study Details

Evaluating the Efficacy of Traditional Chinese Medicine Decoctions for Rheumatoid Arthritis Management

Traditional Chinese medicine decoctions may improve rheumatoid arthritis symptoms

Clinical research that matters. Delivered to your inbox.

Most children with congenital myopathies maintain preserved intellectual functioning despite varying neuropsychological profilesChildren with Congenital Myopathies Often Maintain Intellectual Functioning

How this fits prior evidence

Common questions

More on X-linked myotubular myopathy

Study Details

Evaluating the Efficacy of Traditional Chinese Medicine Decoctions for Rheumatoid Arthritis Management

Traditional Chinese medicine decoctions may improve rheumatoid arthritis symptoms

Clinical research that matters. Delivered to your inbox.

Related in Rheumatology

From Other Specialties