SMA, acronym for Spinal Muscular Atrophy, is a neuromuscular disease caused by the progressive degeneration and irreversible loss of motor neurons in the anterior horn cells of the spinal cord. It is a neuromuscular disease with the highest infant mortality rate. Based on the age of onset of the disease and its severity, it is classified into four subtypes (I-IV). SMA1 is the most severe form, with onset before six months of life. In SMA2, also called intermediate, the standing position and walking independently are not achieved. SMA3 is the mildest form and begins after 18 months of life, while the type 4 form is typical of adulthood. Based on my personal experience it was decided to deal with the case of Marika, suffering from SMA2, in this paper. The disease was diagnosed at the age of 16 months by electromyography and genetic examination. The treatments for this disease are constantly evolving, in fact, before the children with SMA1 and SMA2 at the first episode of respiratory failure were tracheostomized depriving them of alternative methods that would have improved the quality of life of the child and the family. Thanks to the tenacity of her parents, today Marika, at the age of 21, is a girl who, aware of her condition, does not let herself be discouraged by the difficulties of the case and lays the foundations for her future. The goal of this thesis work is to analyze the care pathway adopted for the management of people suffering from spinal muscular atrophy. In particular, based on the nursing model of Dorothea Orem "Self care deficit nursing theory", nursing management was deepened with regard to the respiratory, nutritional, physiatric-rehabilitative, psychological, domiciliation and follow-up aspects, in order to ensure an optimal quality of life. A care plan was then constructed based on the clinical characteristics of the case in question. A search was made within the scientific literature on the subject, using medical databases such as PubMed and The Cochrane Library; the guidelines of the last 10 years have been taken into consideration, thus consolidated within clinical practice. All this made it possible to explain what the pathology is, the four stages of severity in which it differs, such as diagnosis, treatment, as well as the involvement of parents in taking care of these children, analyzing the most important aspects, problems and related frailties. In fact, it is often difficult to ensure global care for these patients, whether due to the lack of hospital-territory integration or due to the lack of resources. For those living with a rare disease, every day is a challenge made up of small and big concerns, so my wish is also to raise public awareness so that the living conditions of those who suffer from it and their families improve.
La SMA, acronimo di Atrofia Muscolare Spinale, è una patologia neuromuscolare causata dalla degenerazione progressiva e perdita irreversibile dei motoneuroni delle cellule del corno anteriore del midollo spinale. È una malattia neuromuscolare con il più alto tasso di mortalità infantile. In base all’età di esordio della malattia ed alla sua gravità, viene classificata in quattro sottotipi (I-IV). La SMA1 è la forma più grave, con esordio prima dei sei mesi di vita. Nella SMA2, detta anche intermedia, non si raggiunge la posizione eretta e la deambulazione in autonomia. La SMA3 è la forma più lieve ed esordisce dopo i 18 mesi di vita, mentre la forma di tipo 4 è tipica dell’età adulta. Sulla base della mia esperienza personale si è deciso di trattare in questo elaborato il caso di Marika, affetta da SMA2. La patologia le è stata diagnosticata all’età di 16 mesi mediante elettromiografia ed esame genetico. I trattamenti per questa malattia sono continuamente in evoluzione, prima infatti i bambini affetti da SMA1 e SMA2 al primo episodio di insufficienza respiratoria venivano tracheostomizzati privandoli di metodiche alternative che avrebbero migliorato la qualità di vita del bambino e della famiglia. Grazie alla tenacia dei genitori, oggi Marika, all’età di 21 anni, è una ragazza che consapevole della sua condizione, non si lascia abbattere dalle difficoltà del caso e pone le basi per il suo futuro. L’obiettivo di questo lavoro di tesi è di analizzare il percorso assistenziale adottato per la gestione delle persone affette da atrofia muscolare spinale. In particolare, basandoci sul modello infermieristico di Dorothea Orem “Self care deficit nursing theory” è stata approfondito la gestione infermieristica per quanto riguarda l’aspetto respiratorio, nutrizionale, fisiatrico-riabilitativo, psicologico, la domiciliazione ed il follow up, al fine di garantire una qualità di vita ottimale. E’ stato poi costruito un piano assistenziale basandosi sulle caratteristiche cliniche del caso in questione. È stata fatta una ricerca all’interno della letteratura scientifica presente sull’argomento, utilizzando i database medici come PubMed e The Cochrane Library; sono state prese in considerazione le linee guida degli ultimi 10 anni, consolidate quindi all’interno della pratica clinica. Tutto ciò ha permesso di spiegare cos’è la patologia, i quattro stadi di gravità in cui si differenzia, come avviene la diagnosi, il trattamento, nonché il coinvolgimento dei genitori nella presa in carico di questi bambini, analizzando gli aspetti più importanti, le problematiche e le fragilità correlate. Spesso infatti risulta difficoltoso garantire una presa in carico globale a questi pazienti, che sia per la mancata integrazione ospedale-territorio o per la mancanza di risorse. Per chi vive una patologia rara, ogni giorno è una sfida fatta di piccole e grandi preoccupazioni, per cui il mio auspicio è anche quello di sensibilizzare l’opinione pubblica affinché migliorino le condizioni di vita di coloro che ne soffrono e delle loro famiglie.
Assistenza al paziente con Atrofia Muscolare Spinale
PELLEGRINO, MILENA
2019/2020
Abstract
SMA, acronym for Spinal Muscular Atrophy, is a neuromuscular disease caused by the progressive degeneration and irreversible loss of motor neurons in the anterior horn cells of the spinal cord. It is a neuromuscular disease with the highest infant mortality rate. Based on the age of onset of the disease and its severity, it is classified into four subtypes (I-IV). SMA1 is the most severe form, with onset before six months of life. In SMA2, also called intermediate, the standing position and walking independently are not achieved. SMA3 is the mildest form and begins after 18 months of life, while the type 4 form is typical of adulthood. Based on my personal experience it was decided to deal with the case of Marika, suffering from SMA2, in this paper. The disease was diagnosed at the age of 16 months by electromyography and genetic examination. The treatments for this disease are constantly evolving, in fact, before the children with SMA1 and SMA2 at the first episode of respiratory failure were tracheostomized depriving them of alternative methods that would have improved the quality of life of the child and the family. Thanks to the tenacity of her parents, today Marika, at the age of 21, is a girl who, aware of her condition, does not let herself be discouraged by the difficulties of the case and lays the foundations for her future. The goal of this thesis work is to analyze the care pathway adopted for the management of people suffering from spinal muscular atrophy. In particular, based on the nursing model of Dorothea Orem "Self care deficit nursing theory", nursing management was deepened with regard to the respiratory, nutritional, physiatric-rehabilitative, psychological, domiciliation and follow-up aspects, in order to ensure an optimal quality of life. A care plan was then constructed based on the clinical characteristics of the case in question. A search was made within the scientific literature on the subject, using medical databases such as PubMed and The Cochrane Library; the guidelines of the last 10 years have been taken into consideration, thus consolidated within clinical practice. All this made it possible to explain what the pathology is, the four stages of severity in which it differs, such as diagnosis, treatment, as well as the involvement of parents in taking care of these children, analyzing the most important aspects, problems and related frailties. In fact, it is often difficult to ensure global care for these patients, whether due to the lack of hospital-territory integration or due to the lack of resources. For those living with a rare disease, every day is a challenge made up of small and big concerns, so my wish is also to raise public awareness so that the living conditions of those who suffer from it and their families improve.File | Dimensione | Formato | |
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Open Access dal 26/11/2023
Descrizione: Tesi compilativa in cui viene trattato il percorso assistenziale di una persona affetta da atrofia muscolare spinale, una rara malattia neuromuscolare
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https://hdl.handle.net/20.500.12075/4252