ArticleThe Journal of international medical research2021
Clinical presentation of Rett syndrome in relation to quality of life and family functioning.
Article in The Journal of international medical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- The psychosocial impact of childhood dementia on children and their parents: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis.Journal of computational chemistry · 2026Article
- Family quality of life in the context of Rett syndrome: insights from Brazilian families.Journal of community genetics · 2026Article
- Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.Orphanet journal of rare diseases · 2025Article
- Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.Brain sciences · 2025Review
- Enhancing cognitive-motor recovery in Rett syndrome: effects of integrated intervention on neuropsychological and motor outcome.Frontiers in psychology · 2025Article
- From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning.Journal of clinical medicine · 2024Article
- Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome.Epilepsia open · 2024Observational
- Rett syndrome in Ireland: a demographic study.Orphanet journal of rare diseases · 2024Article
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families.International journal of environmental research and public health · 2022Article
- Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial.Epilepsia · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveRett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children's quality of life (QoL) and family functioning. The objective of this cross-sectional descriptive correlation study was to understand the clinical presentation of RTT in relation to QoL and family functioning.
methodsWe included 23 parents of children with RTT. In this study, we used the PedsQL™ Family Impact Module, the Pediatric Quality of Life Inventory 4.0 generic core scales (PedsQL™ 4.0), and an author-designed questionnaire to assess QoL and family functioning.
resultsA significant relationship was observed between PedsQL™ 4.0 score and child's age in the physical functioning dimension. Children aged 8 to 12 years demonstrated significantly higher scores than those in the other age groups. Malnutrition in the child significantly affected functioning of the family in the family relationships dimension. Children receiving 5 hours of rehabilitation treatment a week had significantly higher QoL in the school functioning dimension.
conclusionsQOL in children with RTT, as perceived by their parents, is reduced. RTT has a significant negative correlation with family functioning.
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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.