Search

Background: Hypersomnias of central origin (HOCO) are diverse in origin and symptomatology and remain poorly described in an Australian population. We hypothesised that the rate of human leukocyte antigen (HLA) DQB1*0602 positivity in the Australian cohort would be comparable to international registries. Aims: The current study aims to evaluate epidemiological and clinical characteristics of Australian patients with HOCO, including prevalence of HLA DQB1*0602 positivity, the most specific HLA marker associated with narcolepsy. Methods: This is a retrospective study. Patients ≥ 16 years of age presenting with symptoms of hypersomnolence who attended one of two Australian sleep centres (New South Wales and Queensland) in the preceding 24 months and had undergone both HLA serology and multiple sleep latency tests (MSLTs) were included. Main outcome measures included demographics, HLA DQB1*0602 positivity, MSLT, and clinical parameters (presence of auxiliary narcolepsy symptoms, laboratory tests, relevant prescribed medications). Results: Eighty‐eight patients were included. HLA DQB1*0602 positivity was highest in those with type 1 narcolepsy (NT1) (95.7%) and lowest in those without a classifiable disorder (9.1%). Mean sleep latency was lowest and number of sleep‐onset rapid eye movement periods (SOREMPs) highest in the NT1 group. Comorbid disorders, particularly depression and overweight/obesity, were prevalent in all cohorts. Across all diagnostic groups, dexamphetamine was the most commonly prescribed agent for excessive daytime sleepiness. Conclusions: Patients with HOCO assessed in two specialised Australian clinics demonstrate comparable clinical characteristics to other published cohorts internationally; however, available pharmacological agents in Australia do not reflect international standards of care. [ABSTRACT FROM AUTHOR]

Study Objectives: Idiopathic hypersomnia (IH) is a disorder of central hypersomnolence that results in excessive daytime sleepiness in the absence of another identifying cause. Case studies from sleep clinic patients may not be a fair representation of the wider IH population. This study aims to better characterize patients diagnosed with IH in Australia and New Zealand using online patient-driven survey data., Methods: A retrospective analysis of 686 participants from the Hypersomnolence Australia Patient Data Registry diagnosed with either IH (n = 554), narcolepsy type 1 (n = 54), or narcolepsy type 2 (n = 78) between January 2013 and October 2022 was performed., Results: Participants with IH reported additional sleep disorders such as obstructive sleep apnea (16.4%) and restless legs syndrome (7.9%), and notable comorbidities included depression (46.2%) and anxiety (50%). There was a mean delay in diagnosis of 10 years in participants with IH, when compared to symptom onset. IH presents with unique but also overlapping symptomatology with narcolepsy type 2, with similar reporting of long daytime naps, unrefreshed sleep, and automatic behavior. Modafinil was the most common medication (45.5%) used by participants with IH, followed by dexamphetamine (44.2%). Most participants with IH reported receiving physicians' advice regarding positive lifestyle changes but recommend that newly diagnosed patients be given more advice about medication use., Conclusions: This study demonstrates a delay in IH diagnosis when compared to symptom onset and overlapping features of IH and narcolepsy type 2. It also highlights the heterogeneous presentation of IH and the value of large patient registries in future research., Citation: Anderson J, Yee BJ, Grunstein R, et al. Insights from a 10-year Australasian idiopathic hypersomnia patient data registry study. J Clin Sleep Med. 2024;20(12):1955-1964., (© 2024 American Academy of Sleep Medicine.)

Introduction: Understanding how persons with narcolepsy conceptualize symptoms, daily impact and illness experience is key to facilitating dialogue between patients and healthcare professionals. These concepts are usually explored from the perspective of healthcare professionals/researchers and rarely from the perspective of those with narcolepsy., Methods: 127 self-reported persons with narcolepsy were recruited from an Australian patient support group. A short demographic survey was completed. All agreed to participate in a subsequent 1:1 semi-structured interview. Saturation was reached after 24 interviews (mean age = 33 years (SD 11) with 44% reporting cataplexy). A multidisciplinary team of researchers/clinicians analyzed interview transcripts using thematic analysis., Results: Participants perceived physical fatigue, sleepiness, and two separate experiences of 'falling asleep/sleep attacks' as distinct symptoms rather than a multidimensional construct (i.e. excessive daytime sleepiness). We also identified two experiences of cataplexy, one triggered by acute emotion and another by a stressor. Participants determined their narcolepsy to be 'well-managed' by the level of functional impairment rather than the frequency of any symptom. Almost all participants described experiencing anticipated stigma and internalized or 'self-' stigma, likely stemming from societal devaluation of sleep and the conflation of sleepiness with laziness., Conclusion: Descriptions of common symptoms often differed between participants and the existing literature. These differences likely impact patient-physician communication, with both parties utilizing the same terminology to communicate different concepts. The characterization of stigma in narcolepsy presents opportunities for future research exploring the impact and possible development of interventions to reduce the substantial psychological comorbidity in persons with narcolepsy., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Corresponding author AS is a member of several narcolepsy patient support groups., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Abstract: There are distinct differences in the accessibility, purity, dosing, and misuse associated with illicit gamma-hydroxybutyrate (GHB) compared to pharmaceutical sodium oxybate. Gamma-hydroxybutyrate sodium and sodium oxybate are the chemical and drug names, respectively, for the pharmaceutical product Xyrem® (sodium oxybate) oral solution. However, the acronym GHB is also used to refer to illicit formulations that are used for non-medical purposes. This review highlights important differences between illicit GHB and sodium oxybate with regard to their relative abuse liability, which includes the likelihood and consequences of abuse. Data are summarized from the scientific literature; from national surveillance systems in the U.S., Europe, and Australia (for illicit GHB); and from clinical trials and post-marketing surveillance with sodium oxybate (Xyrem). In the U.S., the prevalence of illicit GHB use, abuse, intoxication, and overdose has declined from 2000, the year that GHB was scheduled, to the present and is lower than that of most other licit and illicit drugs. Abuse and misuse of the pharmaceutical product, sodium oxybate, has been rare over the 5 years since its introduction to the market, which is likely due in part to the risk management program associated with this product. Differences in the accessibility, purity, dosing, and misuse of illicit GHB and sodium oxybate suggest that risks associated with illicit GHB are greater than those associated with the pharmaceutical product sodium oxybate. [Copyright &y& Elsevier]

Objective Parliamentary inquiries into health-related issues empower everyday Australians to contribute to the development and reform of health policy. We explored how patient and family/carers concerns are translated by this process, using a less well-known disease, narcolepsy, as an example. Methods Written submissions made to the Parliamentary Inquiry into Sleep Health Awareness in Australia 2018 by self-identified patients or family/carers with narcolepsy (n  = 13) were extracted and thematically analysed using the Framework Approach. Each submission was systematically coded and abstracted into emergent themes before being evaluated against the final policy recommendations. Results Although patients and their family/carers prioritised issues that affected their daily lives (i.e. mental health sequela, workplace accommodations), the policy recommendations in the report focused mainly on issues of healthcare infrastructure, funding and engagement. Our analysis highlighted several barriers that patients and their family/carers face when contributing to this part of healthcare policy formation. Conclusions Our findings suggest that the parliamentary inquiry process in its current form is not an ideal vehicle by which patients and family/carers can contribute or influence healthcare policy. Despite calling for submissions from patients and their family/carers, the final report and subsequent health policy recommendations made by the inquiry do not appear to be patient-centric or reflective of the submissions written by these stakeholders. Increased transparency, development of processes to balance stakeholder priorities and improved accessibility for stakeholders to participate are needed if health-related parliamentary inquiries are to produce healthcare policy that ultimately meets the needs of patients and family/carers.

Study Objectives: The Multiple Sleep Latency Test (MSLT) is central to the diagnosis of narcolepsy and idiopathic hypersomnia. This study is the first to assess the impact of a 5-nap protocol on meeting MSLT-derived diagnostic criteria in a general cohort referred for MSLT, without selection bias., Methods: Data for all MSLTs performed at 2 tertiary sleep units in Australia between May 2012 and May 2018 were retrospectively assessed for the impact of the fifth nap on mean sleep latency (MSL) and sleep onset rapid eye movement periods., Results: There were 122 MSLTs included. The MSL was 8.7 ± 5.1 minutes after 4 naps, compared with 9.2 ± 5.2 minutes for 5 naps (P < .0001). In 8 cases, inclusion of the fifth nap changed the MSL to a value above the diagnostic threshold of 8 minutes. There were no instances in which the MSL moved to ≤ 8 minutes based on fifth nap data. A sleep onset rapid eye movement period occurred in the fifth nap in 9 patients and altered the interpretation in 2 cases., Conclusions: The fifth nap in an MSLT is associated with an increased MSL, although this difference is rarely clinically significant. In patients with borderline MSL or 1 sleep onset rapid eye movement period after 4 naps, a fifth nap can alter the outcome and should be performed. However, for many cases, a 4-nap MSLT protocol will suffice, potentially allowing resource savings without compromising diagnostic accuracy. We propose the adoption of a conditional 4-nap or 5-nap protocol based on specific criteria., (© 2021 American Academy of Sleep Medicine.)