Browse Items (46 total)

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

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…

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.…

Illness narratives have become very popular. The stories of children, however, are rarely ever studied. This paper aims to provide insight into how children, parents and physicians make sense of progressive childhood cancer. It also explores how this…

Abstract Background: Missing data is a common phenomenon with survey-based research; patterns of missing data may elucidate why participants decline to answer certain questions. Objective: To describe patterns of missing data in the Pediatric Quality…

OBJECTIVES: To determine whether new-onset clinical depression emerges over time, and whether positive and negative mood levels change among patients with terminal cancer. METHODS: In this two-site study, 58 cancer patients seen at least twice were…

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during…

BACKGROUND: Physicians are often asked to prognosticate patient survival. However, prediction of survival is difficult, particularly with critically ill and dying patients within the hospitals. The Palliative Performance Scale (PPS) was designed to…

OBJECTIVE: Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study…

The objective of this study was to provide a preliminary description of trajectories of life-limiting conditions (LLCs) using qualitative experiential data. Semi-structured interviews were conducted with families of children with LLCs, selected to…

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease. STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid alpha-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier…

OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and…

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others,…

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional…

Children with neurodegenerative, life-threatening illnesses (NLTIs) account for a significant proportion of children requiring palliative care, yet there is a lack of of research that examines families' experiences. This grounded theory study…

OBJECTIVES: We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases. MATERIAL AND METHODS:…

AIM: The purpose of this study was to survey symptoms in children/young people with progressive cancer and identify which are the most important and which are the most difficult to treat effectively. PATIENTS AND METHODS: This was a questionnaire…

A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of…

OBJECTIVES: Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural…

This article presents the findings of a study that explored documentation surrounding the end-of-life care of children with cancer. An in-depth history audit of 18 children with cancer, who died from disease progression at a single tertiary…

We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed…

The fear of "choking to death" is on the mind of most patients suffering from amyotrophic lateral sclerosis (ALS). So far, however, there have been no systematic surveys concerning the dying phase in a general ALS population. We therefore performed a…

Randomised controlled trials (RCTs) alone are unlikely to provide reliable estimates of the incidence of rare events because of their limited size. Cohort, case control, and other observational studies have large numbers but are vulnerable to various…

The clinical course of Japanese patients with childhood and adolescent adrenoleukodystrophy (ALD) who were treated with Lorenzo's oil after the progression of early symptoms was investigated by Kaplan-Meier analyses. Many of the early symptoms,…

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of…

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