Gennaio 2020 - Volume XXXIX - numero 1
Problemi speciali
1Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna; 2IRCCS Istituto delle Scienze Neurologiche di Bologna; 3Associazione Italiana Narcolettici e Ipersonni; 4Società Italiana di Medicina Generale (SIMG); 5Centro Nazionale Malattie Rare, Istituto Superiore di Sanità; 6Società Italiana di Neurologia (SIN); 7Società Italiana di Neuropsichiatria dell’Infanzia e dell’Adolescenza (SIMPIA); 8Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna; 9Società Italiana Neurologia Pediatrica (SINP); 10Società Italiana di Pediatria Preventiva e Sociale (SIPPS); 11Società Italiana di Pediatria (SIP); 12IRCCS Istituto Scientifico “San Raffaele”, Dipartimento di Neuroscienze Cliniche, Neurologia - Centro dei Disturbi del Sonno, Milano; 13Centro di Ricerca sul Sonno, Dipartimento di Neurologia IC, Istituto Oasi IRCCS, Troina (Enna)
Indirizzo per corrispondenza: elenaantelmi@gmail.com
Key words: Narcolepsy symptoms, Diagnosis, Red Flags, Diagnostic delay
Rationale - Narcolepsy is a chronic rare disease that frequently develops in children. It is characterised by excessive daily sleepiness, cataplexy, sleep paralysis, hypnagogic and hypnopompic hallucinations as well as disturbed nocturnal sleep. Moreover, psychiatric disorders, obesity and early puberty can complete the clinical picture. Narcolepsy diagnosis is often delayed and many patients receive wrong diagnoses and inappropriate treatments.
Objective - The Associazione Italiana Narcolettici e Ipersonni (AIN) promoted the “Red Flags Project” in order to increase early detection by doctors that visit subjects with narcolepsy symptoms. The project has been developed by a multidisciplinary panel including main Scientific Societies involved in narcolepsy diagnosis, with the methodological contribution of the Neurological Sciences Institute of Bologna University and Istituto Superiore di Sanità.
Method - The project has been divided into three phases. Phase 1: preparation of a questionnaire aimed at defining diagnostic delay, barriers and solutions and questionnaire filling in by Scientific Societies representatives and AIN members. Phase 2: shaping of typical and atypical narcolepsy pictures in adults and in children, on whose basis Red Flags have been defined. Phase 3: the panel has produced suggestions aimed at Red Flags spreading and barriers overcoming.
Results - Narcolepsy Red Flags are 5 paradigmatic clinical pictures: 3 for children and 2 for adults. The limited early symptoms knowledge of doctors, in particular on symptoms different from sleep attacks, is the main barrier to diagnosis.
Conclusions - “Red Flags Project” deals with diagnostic delay, proposing paradigmatic clinical pictures, in order to arouse diagnostic suspect and suggest targets of Red Flags spreading.
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