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World Sleep 2022 | The underdiagnosis of narcolepsy and related disorders – comorbidity and the development of the PHS

Kiran Maski, MD, MPH, Boston Children’s Hospital, Boston, MA, discusses the underdiagnosis of narcolepsy, related disorders, and the related diagnostic odyssey that patients face. Narcolepsy is underdiagnosed, likely a result of poor awareness and recognition of the symptoms. This results in a very long process of accurate diagnosis, which may result from a misunderstanding of the symptoms and, thus, treatment for something else. An example is described with sleepiness and fatigue, which may be interpreted as a psychiatric disorder or related to depression. Dr Maski discusses that in children, sleepiness can often look like daytime behavioral issues, like moodiness and hyperactivity – sometimes being diagnosed with attention deficit disorder (ADD). Overall, there are several ways the diagnosis can be delayed. Dr Maski presented a project at the World Sleep Conference where they developed a pediatric hyper-somnolence screening tool to help identify patients with idiopathic hypersomnia and narcolepsy sooner. The qualitative survey was developed from the issue of delayed diagnosis – specifically with narcolepsy – but did include the experience of patients with idiopathic hypersomnia in its development. Interviews with patients, their parents, and their teachers were conducted to discover the signs and symptoms, which retrospectively should have been brought to medical attention earlier. A survey was constructed out of this, which was later tested and validated in different groups – finding that if the pediatric hypersomnia survey demonstrated a total score greater than 24, a patient yielded a very high sensitivity of over 80% and specificity of over 80% for narcolepsy and idiopathic hypersomnia. Dr Maski hopes this tool can help patients get the correct diagnosis in a timelier fashion. This interview took place at the World Sleep Conference 2022 in Rome, Italy.