Browse Items (336 total)

This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2…

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…

Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16…

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…

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…

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…

BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder that is associated with significant esophageal strictures, resulting in dysphagia and nutritional failure. Although endoscopically guided balloon…

We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children…

OBJECTIVE: To assess health insurance status and health care access of young adults with disabilities attributable to a chronic condition. DESIGN AND SETTING: We analyzed data from the National Health Interview Survey from 1999 to 2002. We present…

OBJECTIVE: To describe the clinical and demographic characteristics of nonneuronopathic Gaucher disease (GD) in children at the time of diagnosis. DESIGN: Longitudinal observational database of the International Collaborative Gaucher Group Gaucher…

CONTEXT: Cardiac arrests in adults are often due to ventricular fibrillation (VF) or pulseless ventricular tachycardia (VT), which are associated with better outcomes than asystole or pulseless electrical activity (PEA). Cardiac arrests in children…

CONTEXT: Magnetic resonance imaging (MRI) findings have been reported for specific clinical cerebral palsy (CP) subgroups or lesion types but not in a large population of children with all CP subtypes. Further information about the causes of CP could…

Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment. To delineate the natural history of trisomy 18 managed under intensive treatment,…

BACKGROUND: Estimates of the probability of developing or dying from cancer, either over a lifetime or over a specified number of years, are useful summary measures of the burden of cancer in a population. METHODS: The authors used publicly available…

BACKGROUND: The prevalence of malnutrition in children with cancer ranges between 8% and 60%. Malnutrition is strongly associated with the nature of treatment and increases an individual's risk of infection. Clinical studies have suggested that…

Guided by the role strain and the role enhancement theories, this study examined the effect of caregivers' multiple roles, such as being employed and taking care of minors in their household, on their psychological adjustment.Of the caregivers who…

In the current study, we investigated the psychometric properties of a Dutch translation of the posttraumatic growth inventory in a heterogeneous group of cancer patients. Its original five-factor structure was maintained. The internal consistency of…

BACKGROUND: We conducted a prospective two-group evaluation of pediatric cancer patients and their siblings regarding experiences and affective changes resulting from a 1-week summer camp experience. METHODS: The patients and siblings were assessed…

Individuals with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to their severely impaired pulmonary function, these individuals are at risk of severe complications…

BACKGROUND: Rheumatoid arthritis is a common, disabling, autoimmune disease with significant psychiatric sequelae. AIMS: We aimed to identify the prevalence of depression and anxiety in patients with rheumatoid arthritis attending hospitals, and to…

The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and…

ENS consists of a complex network of neurons, organised in several plexuses, which interact by means of numerous neurotransmitters. It is capable of modulating the intestinal motility, exocrine and endocrine secretions, microcirculation and immune…

The objective of this study was to assess how frequently end-of-life decisions (ELDs) with a possible or certain life-shortening effect in neonates and infants were discussed with parents, and to determine if consultation of parents was associated…

OBJECTIVE: The aim of this study was to investigate the efficacy and efficiency of an add-on treatment with the synthetic cannabinomimetic nabilone on patients with chronic pain. Of major interest were the evaluation of the influence the treatment…

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated…

Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake…

A significant population of children will experience bereavement because of the death of a parent or a sibling. This grief is different from the bereavement seen in adults and needs to be understood in a developmental context. Cognitive and emotional…

This article reviews mood disorders in children and adolescents, the diagnostic criteria, and important differential diagnoses to be considered. Critical points in the treatment of mood disorders and comorbid conditions and the important role the…

In the United States the majority of infants who die in the first 27 days end their lives in the neonatal intensive care unit (NICU). This article describes the implementation of a NICU-based team approach to providing end-of-life care to dying…

Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is…
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