The protean manifestations of childhood narcolepsy and their misinterpretation

Abstract

Narcolepsy often begins in childhood but is infrequently recognized, partly because of its many manifestations that can be confused with other conditions. The clinical presentations of excessive sleepiness, cataplexy, hallucinatory phenomena, and sleep paralysis (not always occurring together) are very varied. The picture may be further complicated by the occurrence of automatic behaviour, memory and visual problems, and associated sleep disorders, as well as the psychological and social consequences of having narcolepsy. Not surprisingly, therefore, misinterpretation of the symptoms as primarily psychological, or otherwise physical, may well occur leading to inappropriate management including initial referral to psychiatric or educational rather than neurological or sleep disorder services. The wide‐ranging and special features of childhood narcolepsy need to be appreciated by health care and other professionals as well as by parents.

Clinical diagnosis and misdiagnosis of sleep disorders

“…Neurologists had made the correct diagnosis in 55% of the cases they had seen, internists in 23.5%, general practitioners in 21.9% and psychiatrists in 11%. Paediatricians had failed to recognise the condition as narcolepsy in all the children they had seen, possibly because of the special difficulties that can be encountered in recognising the condition at an early age,38 but also because it is not generally realised that the onset of narcolepsy occurs before adulthood in at least a third of cases. Hypothyroidism and hypoglycaemia are other possible misdiagnoses of narcolepsy.…”

Narcolepsy in Children: A Diagnostic and Management Approach

“…2 The exact prevalence of narcolepsy in the pediatric population is not known; however, the condition is not rare and is probably underestimated because of the high rate of misdiagnosis. 3 A recently published study estimated the pooled incidence rate of narcolepsy in children aged 5-19 years from six European countries to be 0.83 per 100,000 person-years. 4 This study, along with other studies that have recently emerged, linked adjuvanted monovalent H1N1 pandemic flu vaccine with an increased incidence of narcolepsy.…”

Cataplectic Facies: Clinical Marker in the Diagnosis of Childhood Narcolepsy—Report of Two Cases

“…Furthermore, frequent daytime naps are considered to be normal up to 4 years of age. 10 Notably in our patients, excessive daytime sleep was felt to represent tiredness and fatigability and even prompted for further investigation of sleep apnea in patient 2.…”