Prevalence of ataxia in children A systematic review
From the Department of Neuroscience (K.E.M., A.J.B.), Johns Hopkins School of Medicine, Baltimore, MD Neurology
(Impact Factor: 8.29).
11/2013; 82(1). DOI: 10.1212/01.wnl.0000438224.25600.6c
To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes.
A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement. Five databases were searched for articles reporting a frequency measure (e.g., prevalence, incidence) of ataxia in children. Included articles were first grouped according to the World Health Organization (WHO) regions and subsequently classified according to etiology (genetic, acquired, or mixed). Each article was assessed for its risk of bias on the domains of sampling, measurement, and analysis. Incidence values were converted to prevalence estimates whenever possible. European prevalence estimates for different etiologies of ataxia were summed to gauge the overall prevalence of childhood ataxia.
One hundred fifteen articles were included in the review. More than 50% of the data originated from the Europe WHO region. Data from this region also showed the least susceptibility to bias. Little data were available for Africa and Southeast Asia. The prevalence of acquired ataxias was found to vary more greatly across regions than the genetic ataxias. Ataxic cerebral palsy was found to be a significant contributor to the overall prevalence of childhood ataxia across WHO regions. The prevalence of childhood ataxias in Europe was estimated to be ∼26/100,000 children and likely reflects a minimum prevalence worldwide.
The findings show that ataxia is a common childhood motor disorder with a higher prevalence than previously assumed. More research concerning the epidemiology, assessment, and treatment of childhood ataxia is warranted.
Available from: omicsgroup.org
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ABSTRACT: How to motivate children (patients) to perform their exercises during rehabilitation
or at home? This is the challenge met by physical therapists in their daily professional
practice with disabled patients. Indeed, a lack of motivation is one of the most frequent
reasons for patients to drop out.
Commercial video games have significantly evolved over the last decade. Today
computer performance and play experience allow new perspectives for rehabilitation.
Thanks to new gaming controllers (Nintendo Wii Fit™, Microsoft Xbox Kinect™, etc.)
video game playing has changed from a passive (i.e., the player is seated on a sofa) to an
active experience: players have to move in order to interact with games.
Clinicians are now prospecting the new potential use of these games in rehabilitation
mainly through testing available commercial games with patients suffering from various
pathologies (e.g., cerebral palsy, brain stroke, Parkinson disease, elderly…). Physical
rehabilitation must be based on active exercises, and new gaming strategy allows it.
Furthermore, the game environment is obviously a major advantage to increase patient
motivation to perform their rehabilitation schemes. Today challenge is to use games as
However, results of these first clinical tests using commercial video games are not as
good as first expected. Several limitations appeared when using commercial video games
in rehabilitation. Such games are designed for entertainment purpose and obviously do
not include any therapeutically know-how and strategies. Further, the architecture of the
games (i.e., tasks to achieve, visual background, etc) is not adapted for patients showing
various kinds of disabilities like motor or visual disorders. For example, most games are
based on scenario fast movements to succeed while such quick execution is often
contraindicated during many physical rehabilitation schemes related to neurological
disorders. Also, player motion accuracy requested by the player during the games is low
while most therapists will aim to improve patient joint control and coordination. In short,
commercial video games are not adapted for rehabilitation; contrariwise the different
gaming controllers used offer interesting new perspectives for rehabilitation. The current
challenge for therapists is to help the game industry to develop specific games welladapted
for specific pathologies. Since a few years specific solutions have been
developed and tested with cerebral palsy children. This chapter presents an overview of
the different works that have been done in the field both using commercial games as well
as games specifically developed for the target group. Advantages and limits of each
approach will be then discussed. Finally, the last part of this chapter will focus on global
trends for future work and perspectives will be provided on how to integrate
rehabilitation aspects (physiotherapy, occupational therapy) in game scenarios.
Available from: Masayuki Sasaki
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ABSTRACT: Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset spinocerebellar ataxia type 29 (SCA29) and late-onset SCA15, but have not been found in sporadic infantile-onset cerebellar ataxia. We examined if mutations of ITPR1 are also involved in sporadic infantile-onset SCA. Sixty patients with childhood-onset cerebellar atrophy of unknown etiology and their families were examined by whole-exome sequencing. We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia. Patients displayed nystagmus, tremor, and hypotonia from very early infancy. Nonprogressive ataxia, motor delay, and mild cognitive deficits were common clinical findings. Brain magnetic resonance imaging revealed slowly progressive cerebellar atrophy. ITPR1 missense mutations cause infantile-onset cerebellar ataxia. ITPR1-related SCA includes sporadic infantile-onset cerebellar ataxia as well as SCA15 and SCA29.
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