Browse Items (109 total)

No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared…

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and…

BACKGROUND: Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. In addition to neurodevelopmental regression and loss of hand skills, apraxia, deceleration of head growth, and increasing spasticity and scoliosis, a…

Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected…

The role of surgical intervention for carpal tunnel syndrome (CTS) and trigger digits in children with mucopolysaccharide storage disorders (MPSDs) has not been clearly defined, particularly as the treatment of the underlying disease has advanced to…

The purposes of this study were to replicate a recent report of the positive effects of hand splinting on the stereotypic hand movement of children with Rett syndrome and to evaluate the generality of these results to a different setting. Two…

Purpose There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular)…

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

This study was aimed at extending the use of assistive technology (i.e., photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose…

We assessed a microswitch-based program to improve self-determination to access to preferred stimuli and to foster locomotor behavior by two girls with Rett syndrome and multiple disabilities. To enhance the first behavior (access to preferred…

A single-subject rapidly alternating treatment design was used to compare the effectiveness of bilateral band splints and an elbow orthosis in decreasing stereotypic band behaviors and increasing toy play in 2 children with Rett syndrome. The…

Objective To evaluate the reliability of the motor function measure (MFM) scale in the assessment of disease severity and progression when administered at home and clinic and assess its correlation with the Paediatric Outcomes Data Collection…

Hurler syndrome is the most severe form of mucopolysaccharidosis type I. There is a paucity of literature reporting the gross motor abilities of children with untreated Hurler syndrome. The purpose of this case series is to describe the gross motor…

Rett syndrome (RTT) considerably limits participation in daily activities but food and mealtimes are most often motivating activities for persons with RTT. The aim of this study was to investigate whether there is a difference in participation during…

Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting females. It is characterized by apparently normative development of motor and communicative abilities followed by deterioration in these domains. Stereotypic hand movements are…

Few studies have examined the extent to which functional hand-use may be taught to girls with Rett syndrome after those skills have been lost. In this investigation, five females with classic Rett syndrome taught to feed themselves using a method of…

Background: GPi (Internal globus pallidus) DBS (deep brain stimulation) is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia. Objectives: This report describes the long-term clinical…

INTRODUCTION: Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features,…

Spinal muscular atrophy is a genetic disease of the anterior horn cell with high morbidity rate in childhood. Certain drugs may be of benefit and are in or under consideration for Phase II trials. Outcome measures that are age appropriate and…

Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature,…

The purpose of this multiple baseline study was to examine the effect of bilateral hand splints on the persistent stereotypic hand movements of three adolescent girls with Rett syndrome. Among the most characteristic features of Rett syndrome are…

The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was…

Four cases of the Lesch Nyhan syndrome found in the Tokyo area were given L 5 hydroxytryptophan orally. L 5 hydroxy tryptophan relieved self mutilation effectively without causing any side effects. However this substance did not alleviate…

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20 item version of the Motor Function Measure in non ambulant SMA children and adults at baseline and…

INTRODUCTION: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. OBJECTIVE:…

BACKGROUND: To investigate the feasibility of a physical exercise programme with treadmill for persons with Rett syndrome (RS) in order to promote fitness and health. METHODS: A daily training programme on a treadmill was designed for four females…

INTRODUCTION: Gabapentin has been used in the management of neuropathic pain, epilepsy and occasionally movement disorders. METHODS: A four-year retrospective, observational study analysed the use of gabapentin for severe dystonia in children at the…
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