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The diagnosis of a child’s complex chronic illness may impact family relationships and cohesion. The Impact on Family Scale (IFS) is an instrument used to assess the parental perception of the effects of children’s chronic illness on family life.…
Background/aims: The death of a child or young adult is fundamentally painful. Evaluating end-of-life care experiences can identify specific needs and ensure good quality care is provided. Our aim was to identify tools assessing quality of dying,…
Background/aims: The COVID-19 pandemic has resulted in global mass bereavement; in the UK alone there have been 140,000 deaths to date, with a disproportionate impact on Black, Asian or minoritized ethnic (BME) communities. Voluntary and community…
Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients' clinical status. We constructed a motor…
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,…
AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia…
Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Methods: Twenty-six…
Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods:…
Contemporary classification of human disease derives from observational correlation between pathological analysis and clinical syndromes. Characterizing disease in this way established a nosology that has served clinicians well to the current time,…
The question of suffering and its relation to organic illness has rarely been addressed in the medical literature. This article offers a description of the nature and causes of suffering in patients undergoing medical treatment. A distinction based…
