Development and Validation of the Pediatric Hypersomnolence Survey.

BACKGROUND AND OBJECTIVES: Narcolepsy and idiopathic hypersomnia usually begin in early adolescence, but diagnostic delays ranging from 5 to 10 years are common, affecting disease burden. To improve early identification of these treatable conditions, we developed and validated the Pediatric Hypersomnolence Survey (PHS). METHODS: Content was developed through literature review, patient focus groups, interviews with experts in the field, and field testing. We then validated the 14-item self-reported survey across 3 hospitals and web recruitment from patient groups. In the validation phase, we recruited a total of 331 participants (patients with narcolepsy type 1 [n = 64], narcolepsy type 2 [n = 34], idiopathic hypersomnia [n = 36], and other sleep disorders [n = 97] and healthy controls [n = 100], ages 8-18 years) to complete the survey. We assessed a range of psychometric properties, including discriminant diagnostic validity for CNS disorders of hypersomnolence using receiver operating characteristic curve analysis and reliability across a 1-week period. RESULTS: Confirmatory factor analysis indicated a 4-domain solution with good reliability expressed by satisfactory omega values. Across groups, the PHS total score showed appropriate positive correlations with other validated surveys of sleepiness (r = 0.65-0.78, p < 0.001) and negative correlations with multiple sleep latency test measures (mean sleep latency: r = -0.27, p = 0.006; number of sleep-onset REM periods: r = 0.26, p = 0.007). Compared to controls and patients with other sleep disorders, the area under the curve for participants with narcolepsy or idiopathic hypersomnia was 0.87 (standard error 0.02, 95% CI 0.83-0.91) with high sensitivity (81.3, 95% CI 73.7%-87.5%) and specificity (81.2%, 95 CI 75.1%-86.4%). Test-retest reliability was r = 0.87. DISCUSSION: The PHS is a valid and reliable tool for clinicians to identify pediatric patients with narcolepsy and idiopathic hypersomnia. Implemented in clinical practice, the PHS will potentially decrease diagnostic delays and time to treatment, ultimately reducing disease burden for these debilitating conditions. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that the PHS accurately identifies patients with central disorders of hypersomnolence.

Perceived challenges in pediatric narcolepsy: a survey of parents, youth, and sleep physicians.

STUDY OBJECTIVES: To clarify the most common and problematic symptoms, psychosocial challenges, and comorbidities among youth with narcolepsy based on input from key stakeholders. METHODS: A nationwide cross-sectional survey of youth with narcolepsy, parents, and sleep physicians. RESULTS: Overall, 116 parents, 35 youth, and 30 providers completed the entire survey. Symptoms that were rated as most common and problematic by both parents and youth were (in descending order) as follows: daytime sleepiness, disturbed nighttime sleep, mood challenges, cataplexy, sleep-related hallucinations, and sleep paralysis. Most of the 18 queried psychosocial concerns were identified as substantial challenges by both adults and youth, including difficulty focusing and memory, school, worry and anxiety, diet and nutrition, lack of motivation, mood problems, and relationship problems. In contrast, while physicians did recognize some of these challenges, they rated medication side effects and driver's license issues as relatively greater challenges. CONCLUSIONS: These data highlight the high prevalence of psychosocial challenges, discordance between physician and family ratings of challenges, and a high rate of medical comorbidities in youth with narcolepsy and support the application of a biopsychosocial framework in the assessment and treatment of pediatric narcolepsy.

Treatment and care delivery in pediatric narcolepsy: a survey of parents, youth, and sleep physicians.

STUDY OBJECTIVES: To describe the most commonly used treatments in pediatric narcolepsy and their perceived effectiveness, as well as to elicit key stakeholder perspectives on the most optimal manner in which care ought to be delivered to youth with narcolepsy. METHODS: A cross-sectional survey of youth with narcolepsy, parents, and sleep physicians. RESULTS: Complete survey results were available for 35 youth with narcolepsy, 116 parents, and 30 sleep physicians. Overall there was general agreement among family and physicians regarding most effective treatments, including both pharmacologic (stimulants, sodium oxybate, and modafinil/armodafinil) and nonpharmacologic (sleep schedule, exercise, diet) approaches. There was a stronger interested in cannabidiol oil (CBD) from families compared to physicians. Both families and physicians also endorsed a need for multispecialty care, ideally delivered in a same day setting and including specialists in mental health, social work, and nutrition. Quality measures were felt to be important but are not currently tracked by most sleep physicians. Qualitative responses highlight the value families place on providers who listen well and remain open-minded. CONCLUSIONS: Our results suggest strong support by key stakeholders for an interdisciplinary approach to care for youth with narcolepsy.