Browse Items (109 total)

BACKGROUND AND PURPOSE: The purpose of this study was to describe gait parameters in children and adolescents with a diagnosis of Friedreich ataxia (FA) and examine the relationship between disease severity, measured by the Friedreich Ataxia Rating…

The mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline. MEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify…

BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the…

Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature,…

Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the…

INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who…

Objectives - It has been assumed that the sterotyped hand movements in Rett syndrome are symmetrical, midline and that they prevent purposeful use of the hands. Their relationship with respiration has not been previously explored. Material and…

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…

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, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and…

Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database.…

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), an extremely rare autosomal recessive disorder resulting in iron accumulation in the brain, has a diverse phenotypic expression. Based on limited case studies of one or two…

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: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct…

Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. This is an increasing problem because bone-marrow transplantation has dramatically…

Objective. To use a meta-analysis on all reported cases of deep brain stimulation (DBS) for dystonia to determine which factors significantly influence outcome. The Burke-Fahn-Marsden (BFM) movement scale, the most reported measure, was chosen as the…

Sixty patients with disabling myoclonus excluding mainly spinal myoclonus were treated by piracetam as an open-labeled study, and myoclonus score, neurological symptoms, functional disability, and intensity of myoclonus were scored before and after…

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…

The Hammersmith functional motor scale for children with spinal muscular atrophy was modified to establish a standard measure of functional ability in children with non-ambulant spinal muscular atrophy types 2 and 3 in a longitudinal multi-center…

BACKGROUND: Cannabis extracts have a wide therapeutic potential but in many countries they have not been approved for treatment in children so far. OBJECTIVE: We conducted an open, uncontrolled, retrospective study on the administration of dronabinol…

BACKGROUND AND PURPOSE: The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase-associated neurodegeneration (PKAN) and to document the outcome of pallidal deep brain stimulation (DBS).…

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…

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: 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 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…

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 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…

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…

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,…
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