Pediatricians and family physicians together to discover narcolepsy

Narcolepsy is a rare and difficult to diagnose disease. Although, paradoxically, the symptoms of this condition are very simple to recognize, they are often underestimated or suggest other diagnoses. Narcolepsy, in fact, manifests itself through peculiar daytime sleepiness; sufferers take short, restorative naps during the course of the day, during which they often dream, with the risk of hallucinations soon afterwards.

Narcolepsy is often mistaken for epilepsy, psychosis, schizophrenia, depression, movement disorders, or other. In addition to the problem of misdiagnosis, there is that of diagnostic delay, confirmed by the results of numerous research studies. To promote faster diagnosis and more efficient management of the condition, including active involvement of Pediatricians and General Practitioners, in 2019, at the initiative of the National Association of Narcolepsy and Hypersomnia (AIN Onlus), The report of the ‘Red Flags’ project has been published.

Red Flags are defined as the signs and symptoms of the disease that arouse, in any physician, diagnostic suspicion and suggest, at the very least, further evaluation. The project is now in its second phase, which involves disseminating this information to promote a significant reduction in diagnostic delay. Targeted for this disclosure will be specialists from different areas, but especially Pediatricians and General Practitioners: in fact, these are the figures closest to the people and those who first can recognize the symptoms, often confused for features of other diseases. Narcolepsy in fact still remains too little known and neglected, and the correct diagnosis sometimes comes even after 15 years.

Instead, early diagnosis could ensure its more efficient management, especially since it is often individuals in childhood or adolescence who are affected by it.

‘RED FLAGS’ AS AN INNOVATIVE TOOL FOR NARCOLEPSY

The results of the ‘Red Flags’ project were presented Rome, at the Chamber of Deputies, with the Press Conference “1 year on ‘Red Flags’ in narcolepsy“, organized by MA Provider, with an unconditional contribution from Bioprojet. The ‘Red Flags’ project, promoted by the Italian Narcolepsy Association (AIN) and also sponsored by the Italian Association of Sleep Medicine (AIMS), brought together patients, physicians, and different specialists to identify the major obstacles to the diagnosis of narcolepsy and to propose a series of useful elements for the prompt recognition of the disease for immediate clinical evaluation.

“First of all, this project revealed the lack of knowledge of the disease, both on the part of the physician and the patient. That&#8217s the most important obstacle – stated the Professor Giuseppe Plazzi, professor of neurology at the University of Bologna, president of the Italian Association of Sleep Medicine (AIMS) and head of the Center for Sleep Medicine at the Institute of Neurological Sciences in Bologna. – There are conditions that characterize this disease that are quite common in the general population, but when taken together indicate the presence of narcolepsy. In pediatric age, the three main warning signs to watch out for are excessive daytime sleepiness, cataplexy, early puberty and/or rapid weight gain.

These ‘Red Flags’ of the child can manifest in different ways: daytime sleepiness through sleep attacks, changes in the alternation between sleep and wakefulness, inattention or irritability or hyperactivity with automatic behaviors; cataplexy with brief episodes of emotionally provoked loss of muscle tone, with ‘cataplectic face’ (constant but fluctuating presence of eyelid closure, mouth opening and tongue protrusion), sudden loss of tone of head and trunk muscles, intermittent active movements such as grimacing, eyebrow arching, peculiar mouth movements and tongue protrusion. In adulthood, the two main warning symptoms are excessive daytime sleepiness and cataplexy, which may be accompanied by sleep paralysis and hallucinations“.

PATIENTS’ PETITIONS

“‘Red Flags’ are a must-have and indispensable entry card for generating diagnostic suspicion of narcolepsy in clinicians who encounter individuals presenting with the symptoms. Correct early diagnosis of Narcolepsy and easier access to medication could provide patients with the disease with a much better quality of life“. This is what he strongly advocates Massimo Zenti, National President of AIN, the National Association of Narcoleptics and Hypersomniacs.

“Until December 31, 2016, there were only 610 cases of narcolepsy in the National Rare Disease Registry of the National Institute of Health. But international epidemiological data instead picture a harsher reality, where the prevalence of narcolepsy would range between 20 and 50 cases per 100 thousand people. To the point of speculation that, in our country, the number of narcoleptics may range between 12 thousand to 30 thousand. It is evident – Zenti stresses – that, to date, there is a diagnostic delay of the disease of about 10 years, often also preceded by incorrect diagnosis and treatment. Delay also unacceptable in light of high incidence of occurrence of narcolepsy predominantly in pediatric age.

A chronic disabling disease that seriously impairs quality of life“.