Browse Items (1391 total)

Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having…

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…

In children with severe generalized recessive dystrophic epidermolysis bullosa (RDEB), esophageal scarring leads to esophageal strictures with dysphagia, followed by malnutrition and delayed development. We describe a two-step multidisciplinary…

OBJECTIVE: To assess the rate and type of urinary incontinence in a large sample of children and adolescents with spinal muscular atrophy (SMA), a genetic disorder characterized by loss of motor function caused by anterior horn degeneration.…

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…

Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the…

Little emphasis has been accorded to peripheral skin temperature impairments in children with neurological disorders but attention has been paid to the significance of cold extremities (autonomic failure) for well-being and quality of life in adults…

BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is a simple and reliable method, but there are few data about its use in pediatric forms of neuromuscular diseases (NMD). The aim of this study was to evaluate the nutritional effects and…

Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine…

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…

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a…

The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The…

BACKGROUND: Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. AIMS: To delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder. METHOD: A total of…

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,…

The results of a survey given to parents with Sanfilippo syndrome (MPS III) children (n = 30) are described with an emphasis in several areas. Developmental and degenerative patterns are outlined in detail and contrasted with developmental milestones…

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…

Previous studies have indicated increased immunoreactivity of the endogenous opioid peptide beta-endorphin in the cerebrospinal fluid (CSF) of infants under 2 years of age with apnea. To assess the role of endogenous opioids in the pathogenesis of…

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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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: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD:…

Sleep disordered breathing is a common but under-diagnosed complication causing sleep disturbance and daytime symptoms in children with spinal muscular atrophy. Non-invasive (positive pressure) ventilation is an established treatment of respiratory…

Sleep disturbances are prevalent in mucopolysaccharidosis Type III (MPS III), yet there is a lack of objective, ecologically valid evidence detailing sleep quantity, quality or circadian system. Eight children with MPS III and eight age-matched…

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