Browse Items (5 total)

We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading…

Medical advances in recent years have led to an increased life span for children with progressive, neurodegenerative illnesses. The purpose of this hermeneutic inquiry was to explore the experience of families caring for their child at home.…

Review During the past 10 years (the "decade of the brain"), some of the genetic causes of many of the primary neurodegenerative diseases, which include Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis,…

Objectives: To identify barriers to delivering patient and family centred end of life care to children with neurodegenerative disease, of which seizures and myoclonic epilepsy is a significant symptom. To highlight good practice in delivery of end of…

Aims:
A systematic review was conducted to appraise and classify evidence related to the life transitions of adolescents and young adults with life-limiting conditions.

Methods:
The databases searched were MEDLINE, CINAHL, PsycINFO, CancerLit, and…
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atom, dcmes-xml, json, omeka-xml, rss2