Browse Items (73 total)

BACKGROUND: Research ethics committees are commonly perceived as a 'barrier' to research involving seriously ill children. Researchers studying seriously ill children often feel that committees view their applications more harshly compared to…

OBJECTIVES: To assess the ability of two illness severity scores, Pediatric Logistic Organ Dysfunction Score 2 and Pediatric Index of Mortality 3, in predicting PICU-acquired morbidity. DESIGN: Retrospective chart review conducted from April 2015 to…

BACKGROUND: Better tools are needed to diagnose and identify children at risk of clinical malnutrition. OBJECTIVES: We aimed to compare body composition (BC) and malnutrition screening tools (MSTs) for detecting malnutrition on admission; and examine…

IMPORTANCE: Children with medical complexity (CMC) represent a growing population in the pediatric health care system, with high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management,…

Intrahospital transport of a critically ill patient is often required to achieve a diagnostic and/or therapeutic objective. However, clinicians who recommend a procedure that requires transport are often not fully aware of the risks of transport.…

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…

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…

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…

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…

Aberrant sleep patterns are commonly experienced by girls with the Rett syndrome. In this investigation, the problematic sleep of three girls with the Rett syndrome was regulated using a bedtime fading procedure with response cost. The treatment…

Previous studies on the characteristics of disturbed sleep/wake patterns in children with the Rett syndrome have yielded inconsistent findings. In the current study, momentary time sampling procedures were used to measure the sleep/wake patterns of…

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h,…

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…

As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS…

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…

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation…

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