ArticleCase reports in pediatrics2017
Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.
Article in Case reports in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation.Children (Basel, Switzerland) · 2026Review
- Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.Children (Basel, Switzerland) · 2026Article
- Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report.Progress in rehabilitation medicine · 2026Article
- A novel variant in C5ORF42 gene is associated with Joubert syndrome.Molecular biology reports · 2020Article
- Brain magnetic resonance imaging of Joubert syndrome: case presentation in a child.Quantitative imaging in medicine and surgery · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveJoubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. MATERIALS AND
methodsOur case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles.
resultsThe case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. DISCUSSION: In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay.
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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.