Browse Items (57 total)

Background: Individuals with cystic fibrosis (CF) face the challenges of managing a chronic, progressive disease. While palliative care is a standard of care in serious illnesses, there are no guidelines for its incorporation into CF care. Patients…

It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a…

Medical advances over the past two decades have increased the numbers of children who survive serious conditions. Mortality from premature birth and genetic syndromes has improved such that more clinicians offer, and more families request,…

Background: Pain is one of the most common symptoms in children and young people (CYP) with life-limiting conditions (LLCs) which include a wide range of diagnoses including cancer. The current literature indicates that pain is not well managed,…

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Background Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be…

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Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand…
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