Browse Items (291 total)

[Purpose] This study aimed to examine problematic behaviors of mentally handicapped children receiving pediatric physical therapy, through applying the Japanese version of the Aberrant Behavior Checklist(ABC-J) to persons receiving pediatric physical…

Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have…

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…

© 2016 Downs et al. Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross…

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with…

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.Methods:…

BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral,…

The occurrence of obstructive sleep apnea (OSA) is achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensory-evoked potentials (SEP's, 10 subjects) were recorded before and after conventional…

Purpose: Early screening and intervention for dysphagia is crucial to offset potential outcomes such as compromised nutrition or reduced respiratory function. Current paediatric dysphagia screening tests are subjective with poor sensitivity and…

Background: Difficulties in initiating and maintaining sleep are common in children with neurodevelopmental disorders. Melatonin is unlicensed in children yet widely prescribed for sleep problems. Objective: To determine whether or not…

Incessant hand to mouth movements are often noted as part of the movement disorder of the hands in the Rett syndrome (RS). Elbow splints were designed to inhibit this behavior and prevent further injury to the hands. A study of eight RS patients was…

PURPOSE: The aim of this article was to determine reliability of the Test of Infant Motor Performance (TIMP) in infants with spinal muscular atrophy, type I (SMA-I). METHODS: Interrater reliability training was undertaken by 17 physical therapist…

Rett Syndrome (RS) is a neuro-developmental disorder, predominantly affecting females, resulting in severe mental retardation and neuro-behavioral disability. Some RS theoreticians hypothesize that behaviors that are neurologically driven are not…

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…

OBJECTIVES: To explore the feasibility and validity of forced spirometry in patients with ataxia telangiectasia (A-T). STUDY DESIGN: Twenty-eight patients (aged 3.7-19.3 years) performed spirometry on 47 occasions. Parameters studied were technical…

Four patients with Lesch Nyhan disease were treated with L 5 hydroxytryptophan, alone, or in combination with carbidopa, and their effect on self mutilatory behavior was compared to that observed during periods in which placebo was administered.…

The purpose of this study was to examine the effect of hand splints and one elbow restraint on persistent stereotypic hand movements of four girls with Rett's syndrome. Among the most characteristic features of Rett's syndrome are stereotypic hand…

Background: Children with severe psychomotor impairment (SPMI) often experience sleep disturbances that severely distress both the child and his or her parents. Validated questionnaires for the assessment of parents' distress related to their child's…

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:…

The motor skills of patients with spinal muscular atrophy, type I (SMA-I) are very limited. It is difficult to quantify the motor abilities of these patients and as a result there is currently no validated measure of motor function that can be…

BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across…

Aim: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. Methods: The gait parameters of 14 participants with CdCS (mean…

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…

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…

Sleep disturbances in children with neurodevelopmental disabilities are common and frequently difficult to treat with conventional pharmacological and behavioural methods. Melatonin is a pineal hormone known to be important in the regulation of the…

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…

Carnitine is an essential nutrient for the mitochondrial transport of fatty acids. Carnitine deficiency causes a variety of symptoms in multiple organs. Patients with severe motor and intellectual disabilities often have carnitine deficiency. This…

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Cataplexy is a brief episode of bilateral loss of muscle tone with intact consciousness, triggered by a variety of strong emotions such as anger, laugh, humor or surprise and it is considered to represent the physiologic atonia of rapid eye movement…

Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with…
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