According to recent data from the Italian Association for Sleep Medicine (AIMS), about 1 in 4 adults in our country suffers from chronic or transient insomnia. It is above all women who are most interested, about 60% of the total. On the other hand, 20% of cases concern children and minors. Figures that, according to experts, would have even doubled in the year of the COVID pandemic. Very often, sleep disturbances lead to excessive daytime sleepiness (ESD), with consequences, for example, on the risk of road accidents, at home or at work, and in children learning and socialization difficulties. Excessive daytime sleepiness often associated with narcolepsy and obstructive sleep apnea (OSA).
Narcolessia
Narcolepsy, a rare disease that is difficult to diagnose, instead affects 4-5 people out of 10 thousand, for a total of about 27 thousand patients estimated in Italy, of which only 2,500 are currently being treated after a correct diagnosis. Narcolepsy characterized by an irregular sleep-wake cycle and by the appearance, during wakefulness, of sudden periods of sleep that cannot be controlled by the subject. The most prominent symptoms are excessive daytime sleepiness, disturbed nighttime sleep, hallucinations upon falling asleep or upon awakening, and sleep paralysis, which consist of the sensation of not being able to move for a few seconds, sometimes even minutes, always in the moment. falling asleep or waking up. Being able to reach an early diagnosis of narcolepsy – explained Giuseppe Plazzi, president of AIMS – Italian Association of Sleep Medicine during a press conference organized by Aims – is particularly important because the treatments, even if at the moment they are only symptomatic, at the beginning of the disease would be far more effective. Narcolepsy in 50% of cases is a pediatric disease, onset around the age of 12, but can appear at any age. It is often not recognized in children and adolescents who show attention or learning difficulties, the consequence of which school performance and interpersonal skills are compromised. ADHD-Attention / Deficit Hyperactivity / Disorder, one of the most common misdiagnoses made to these subjects due to the similar symptoms of both conditions. Sentinel symptoms are represented not only by sleep, but also by nervousness, cataplexy or metabolic problems. In children, daytime sleepiness, disturbed sleep, hallucinations when falling asleep or waking up. While important strides are being made in accelerating the diagnosis of narcolepsy, the years of delay in diagnosis remain too many. The delay in diagnosis – Massimo Zenti, president of the Associazione Italina Narcolettici e Ipersonni (AIN) has reinforced – is mainly due to the little knowledge of the disease and, in general, to the little attention that there is towards sleep and related disorders. The consequences for patients are enormous: incorrect diagnoses and therapies, years of journeys of hope to find an expert who knows something, money spent on examinations and private visits, loss of days of work and school, difficulties in having social relationships, inferiority complexes, depression, anxiety, obesity. However, you can learn to live with the disease by knowing its characteristics, the possibility of living well even with the disease is there: planning naps, taking medications regularly, avoiding bingeing, alcohol use. You can lead a life very close to normal, you can study, work, drive your car. Often it is enough to realize and accept the condition that it takes different times to do many things to people with narcolepsy.
Obstructive sleep apnea
Obstructive sleep apnea (Osa) is estimated to affect about 7 million people in Italy. Breathing pauses during sleep, due to partial or total obstruction of the upper airways, are their main manifestation. The consequences are, also in this case, daytime sleepiness, fatigue, attention and memory deficit, but also a greater risk of cardiovascular, neurological and metabolic diseases. In the long term, the risk of stroke, arterial hypertension, coronary heart disease and arrhythmias, diabetes, increases for those who suffer from it. The main symptom of obstructive sleep apnea is snoring. Among the causes are obesity and overweight, but also for example, a small jaw, very abundant palates or a large tongue, which can contribute to reduce the pharyngeal air space and obstruct the upper airways, facilitating apneas. Even the intake of alcohol in the evening can promote the onset of obstructive apneas, while the tonsils or adenoids can be the cause in pediatric age. The OSA – underlined Giuseppe Insalaco, researcher at the CNR / IRIB of Palermo – a disease that has a serious impact on the quality of life of those who suffer from it and too often the diagnosis of the delayed pathology. Obtaining a correct diagnosis, followed by optimal monitoring of nocturnal respiratory events and effective therapy, a necessary condition to significantly affect the quality of life related to health, improving neurocognitive functions and the ability to cope with daily activities, work and of couple. Certainly what can be recommended to almost all subjects is a correct lifestyle and physical activity which, even if they do not solve the problem, help to improve it. Very often – said Luca Roberti, president of the Associazione Apnoici Italiani APS (AAI) – patients arrive at a diagnosis and the consequent therapeutic choice at a late age, when the disease is now chronic and numerous comorbidities such as drug resistant hypertension have emerged. , type 2 diabetes and heart problems. However, if properly trained, general practitioners and pediatricians who manage the population on the national territory, can become important epidemiological sentinels, identifying potential cases of patients at risk to be referred to multi-disciplinary territorial specialist centers. a strong synergistic action is needed between political and institutional decision makers, aimed at increasing the awareness that this pathology is a social disease; it is necessary to include the pathology in the Essential Assistance Levels (LEA) and in the National Chronicity Plan (PNC); it is necessary to activate diagnostic and therapeutic paths on the national territory, eliminate inequalities between regions, improve the quality of life of all people affected by this pathology “.
Law proposal
To date, in Italy there is no shared diagnostic path at national level that allows for the early and timely identification of patients who should benefit from a therapeutic approach. A law proposal on rare diseases, presented in 2018 and scheduled again in the classroom for May, goes in the direction of facilitating an early diagnosis and a personalized path for rare diseases such as narcolepsy and some rare sleep disorders. The main purposes of the law – explains the Honorable Fabiola Bologna, Secretary of the Social Affairs and Health Commission of the Chamber – are to provide homogeneous treatment throughout the national territory and promote the advancement of research in the field of rare diseases, preserving good practices and all the paths developed in recent years. The personalized diagnostic therapeutic assistance plan includes health treatments and essential devices paid for by the National Health Service and also guarantees a structured path in the transition from pediatric age to adulthood. Osas is a pathology of multidisciplinary interest and for this reason it is essential that all Regions equip themselves with dedicated Pdta that facilitate diagnosis, treatment and promote a good quality of social and working life for patients throughout the national territory.