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      A practical guide to the pharmacological and behavioral therapy of Narcolepsy 

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          Abstract

          Narcolepsy is a rare, chronic, and disabling central nervous system hypersomnia; two forms can be recognized: narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). Its etiology is still largely unknown, but studies have reported a strong association between NT1 and HLA, as well as a pathogenic association with the deficiency of cerebrospinal hypocretin-1. Thus, the most reliable pathogenic hypothesis is an autoimmune process destroying hypothalamic hypocretin-producing cells. A definitive cure for narcolepsy is not available to date, and although the research in the field is highly promising, up to now, current treatments have aimed to reduce the symptoms by means of different pharmacological approaches. Moreover, overall narcolepsy symptoms management can also benefit from non-pharmacological approaches such as cognitive behavioral therapies (CBTs) and psychosocial interventions to improve the patients’ quality of life in both adult and pediatric-affected individuals as well as the well-being of their families. In this review, we summarize the available therapeutic options for narcolepsy, including the pharmacological, behavioral, and psychosocial interventions.

          Supplementary Information

          The online version contains supplementary material available at 10.1007/s13311-021-01051-4.

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          Peer support within a health care context: a concept analysis.

          Peer support, and the integration of peer relationships in the provision of health care, is a concept of substantial significance to health scientists and practitioners today, as the focus shifts from the treatment of disease to health promotion. If the nursing profession is to effectively incorporate peer relationships into support-enhancing interventions as a means to improve quality care and health outcomes, it is essential that this growing concept be clearly explicated. This paper explores the concept of peer support through the application of Walker and Avant's (Strategies for Theory Construction in Nursing, 3rd Edition, Prentice-Hall, Toronto, 1995) concept analysis methodology. This analysis will provide the nursing profession with the conceptual basis to effectively develop, implement, evaluate, and compare peer support interventions while also serving as a guide for further conceptual and empirical research.
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            Orexin A activates locus coeruleus cell firing and increases arousal in the rat

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              Is Open Access

              Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

              Background Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease. Methods We developed a self-administered survey for parents/carers incorporating pre-validated tools. The survey included questions about experiences of diagnosis, health services use and needs, needs for peer and financial supports. Forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children’s Hospital at Westmead, Sydney were invited to participate. Results Of 46 families who received the survey, 30 (65%) completed it. Most (93%) found the survey acceptable and relevant (91%). Patients were 1–17 years old, 14 (47%) male, and 12 (40%) non-Caucasian. Eighteen (60%) had a lysosomal storage disease and 12(40%) had a mitochondrial disorder. Eleven (38%) saw 3–5 doctors and four (14%) saw 6–10 doctors before receiving the correct diagnosis; 43% felt diagnosis was delayed. Four (13%) were dissatisfied with the way diagnosis was given, due to insensitive style of communication, inadequate information and psychological support. Psychosocial impact was moderate to high for 90% of families and the level of impact was not dependent on the level of health functioning of the child. Twenty-six (87%) wanted, but only 13(43%) received, information about peer-support groups. The 30 children accounted for 168 visits to general practitioners and 260 visits to specialist doctors; 21 (70%) children had at least one admission to hospital, including one who had 16 admissions in the previous 12 months. Most families (77%) received financial assistance but 52% believed this was insufficient. Families benefited from a specialised multi-disciplinary clinic but called for patient-held electronic medical records. Conclusions Australian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.
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                Author and article information

                Contributors
                giuseppe.plazzi@unimore.it
                Journal
                Neurotherapeutics
                Neurotherapeutics
                Neurotherapeutics
                Springer International Publishing (Cham )
                1933-7213
                1878-7479
                22 April 2021
                : 1-14
                Affiliations
                [1 ]GRID grid.10383.39, ISNI 0000 0004 1758 0937, Department of Medicine and Surgery, , University of Parma, ; Parma, Italy
                [2 ]GRID grid.6292.f, ISNI 0000 0004 1757 1758, Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, , University of Bologna, ; Bologna, Italy
                [3 ]GRID grid.7548.e, ISNI 0000000121697570, Department of Biomedical, Metabolic and Neural Sciences, , University of Modena and Reggio Emilia, ; Modena, Italy
                [4 ]GRID grid.492077.f, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, ; Bologna, Italy
                Author information
                http://orcid.org/0000-0002-1051-0472
                Article
                1051
                10.1007/s13311-021-01051-4
                8061157
                33886090
                638fccda-e842-42b7-9eff-2c56149433d8
                © The American Society for Experimental NeuroTherapeutics, Inc. 2021

                This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.

                History
                : 23 March 2021
                Categories
                Review

                Neurology
                narcolepsy,adults,children,pharmacological treatment,cognitive behavioral treatment,behavioral treatment

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