ArticleMolecular genetics & genomic medicine2023
Caregiver-based perception of disease burden in Schaaf-Yang syndrome.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
6 citing papers in PubMed, 6 citations in OpenAlex.
- Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.Clinical science (London, England : 1979) · 2026Article
- Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.Journal of clinical laboratory analysis · 2026Article
- In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.Scientific reports · 2025Article
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Caregiver-based perception of disease burden in Schaaf-Yang syndrome.Molecular genetics & genomic medicine · 2023Article
- Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.Sage open pediatricsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSchaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader-Willi syndrome-region on chromosome 15q. In addition to hypotonia and intellectual disability, individuals with SYS are frequently affected by neonatal contractures and autism spectrum disorder. In this study, we focus on the burden of disease on patients and their families for the first time.
methodsBased on the online SYS Patient Voices Survey the perspective of 81 primary caregivers on SYS was assessed.
resultsThe perceived severity of muscular and developmental manifestations dominated the evaluation of the phenotype in early childhood, while behavioral issues were considered more impactful later in life. Importantly, an apprehension toward symptoms with a later onset was observed in caregivers of younger children. Available therapeutic options, while mostly effective, did not sufficiently alleviate the total burden of disease. Overall, parents stated that caring for an individual with SYS was very challenging, affecting their daily lives and long-term planning.
conclusionOur study demonstrates the necessity for treatments that, adapted to age and in accordance with the caregivers' prioritization, improve the patients' medical condition and thus facilitate their and their families' social participation.
Indexed as
Identifiers
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.