Narcolepsy and Cataplexy – a practical approach to diagnosis and managing the impact of this chronic condition on children and their families

摘要

Narcolepsy is a relatively common neurological condition affecting the regulation of normal sleep/wake cycles leading to excessive daytime sleepiness (EDS). It is almost certainly under-recognised as it has a prevalence of 20–50 per 100,000 population and most cases have an onset in adolescence. Cataplexy (attacks of muscle weakness often precipitated by strong emotions) is a hallmark of this condition and represents the intrusion of REM sleep into wakefulness. Narcolepsy is caused by destruction of hypocretin producing cells due to an autoimmune process often by an infective trigger. Hypocretin is found in the hypothalamus and plays a role in stabilisation of the transition between wake and sleep states. In establishing a diagnosis a comprehensive history to exclude other causes of EDS, including poor sleep habits, is essential. Primary sleep related conditions such as sleep apnoea should be excluded. Investigations for confirmation of the diagnosis include Actigraphy, Polysomnography (PSG), Multiple Sleep Latency Testing (MSLT) and CSF analysis. The symptoms of this debilitating condition can have a huge impact on a child's life and are often vastly underestimated. The impact of EDS on cognitive function is an important factor in difficulties at school, mood, quality of life and future career opportunities. Advances in understanding the pathophysiology have led to trials of novel treatment approaches. The aim of this article is to briefly summarise the recent advances in understanding and give an overview of this important condition for those who are involved in the care of a child with this disease.