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Physiotherapy and Rehabilitation in a Child with Joubert Syndrome
Özge İpek1, Özge Akyolcu2, Banu Bayar1
1Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Muğla Sıtkı Koçman University, Muğla, Turkey.
Insights
Physiotherapy and rehabilitation significantly improved motor function and independence in a child with Joubert syndrome (JS), a rare genetic disorder. This highlights the effectiveness of tailored programs in managing developmental delays associated with JS.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Joubert syndrome (JS) is a rare, autosomal recessive genetic disorder.
- It is characterized by brain malformations, hypotonia, ataxia, and developmental delays.
Observation:
- A 19-month-old female with mild Joubert syndrome participated in a 13-month physiotherapy program.
- Treatment followed neurodevelopmental principles, with sessions five days a week.
Findings:
- The child demonstrated significant motor improvements, including independent sitting, crawling, and walking.
- Gross Motor Function Measure (GMFM) scores increased, and Pediatric Functional Independence Measure (WeeFIM) scores improved, indicating enhanced functional independence.
Implications:
- Physiotherapy and rehabilitation are effective interventions for managing symptoms in Joubert syndrome.
- Early and consistent therapeutic programs can improve developmental outcomes for children with JS.
Objective:
Joubert 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 Methods:
Our 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.
Results:
The 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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