Phenylketonuria (PKU) is a rare autosomal recessive disease that impairs the metabolism of the amino acid phenylalanine (Phe) through genetic mutations in the enzyme phenylalanine hydroxylase (PAH). Thus, the enzyme cannot efficiently perform its regulatory activity against phenylalanine (Phe), going on to cause increased concentrations of it in the blood circulation of the sufferer. Because it is a chronic disorder, there is no cure that guarantees a cure, but one can intervene, avoiding serious damage to the cognitive functions of the individual, with treatments that go to regulate and lower the levels of phenylalanine (Phe) in the body: dietary restriction of phenylalanine (Phe), administration of tetrahydrobiopterin (BH4), supplementation of large neutral amino acids (LNAA), and administration of pegvaliase (PEG-PAL). Considering the onerous situation imposed by the disease, a study investigating the psychological functioning of children and adolescents with PKU and their mothers was carried out; in particular, the presence of internalizing and externalizing symptoms, uncertainty intolerance in pediatric patients, and depressive symptoms in their mothers were investigated through the use of some test instruments. In addition, differences in terms of the presence of these constructs were explored among the three forms of the disease: classic PKU, the most severe; BH4 responsive PKU and hyperphenylalaninemia (HPA), the mildest. Finally, the presence of correlations between disease severity and certain psychological constructs (internalizing and externalizing symptoms, uncertainty intolerance) was predicted. This investigation showed that mainly children and adolescents with PKU did not experience high levels of internalizing, externalizing and uncertainty intolerance symptoms, and similarly, mothers did not experience depressive symptoms. Interestingly, however, they reported a greater presence of inhibitory anxiety in the investigation of uncertainty intolerance related to the most severe form of the disease (classical PKU) than patients suffering from hyperphenylalaninemia. The correlations highlighted by the study involve the forms of the disease and some Ad Hoc Survey items investigating the quality of life of pediatric patients, indicating a worse quality of life in children and adolescents with more severe forms of PKU. Finally, a final major correlation involves the form of the disease and the subscale of inhibitory anxiety identified in the uncertainty intolerance construct, in agreement with what was said earlier about its greater presence in subjects with a more severe form of the disease.
La fenilchetonuria (PKU) è una malattia autosomica recessiva rara che intacca il metabolismo dell’amminoacido fenilalanina (Phe) attraverso mutazioni genetiche dell’enzima fenilalanina idrossilasi (PAH). In questo modo, l’enzima non riesce a svolgere efficientemente l’attività regolatoria nei confronti della fenilalanina (Phe), andando a causarne un aumento delle concentrazioni nella circolazione ematica del soggetto che ne soffre. Essendo un disturbo cronico, non esiste una cura che garantisca la guarigione, ma si può intervenire, evitando gravi danni alle funzioni cognitive dell’individuo, con dei trattamenti che vanno a regolare e ad abbassare i livelli di fenilalanina (Phe) presenti nell’organismo: la restrizione dietetica di fenilalanina (Phe), la somministrazione della tetraidrobiopterina (BH4), l’integrazione di grandi amminoacidi neutri (LNAA) e la somministrazione di pegvaliase (PEG-PAL). Considerata la situazione gravosa imposta dalla malattia, è stato svolto uno studio che indaga il funzionamento psicologico di bambini e adolescenti affetti da PKU e delle loro madri; in particolare, è stata studiata, attraverso l’utilizzo di alcuni strumenti testistici, la presenza di sintomi internalizzanti ed esternalizzanti, dell’intolleranza all’incertezza nei pazienti pediatrici e di sintomi depressivi nelle loro madri. Inoltre, sono state esplorate le differenze, in termini di presenza di questi costrutti, tra le tre forme della malattia: PKU classica, la più grave; PKU BH4 responsiva e iperfenilalaninemia (HPA), la più lieve. Infine, è stata prevista la presenza di correlazioni tra la gravità della malattia e alcuni costrutti psicologici (sintomi internalizzanti ed esternalizzanti, intolleranza all’incertezza). Da questa indagine è emerso che principalmente i bambini e gli adolescenti con PKU non accusavano la presenza di alti livelli di sintomi internalizzanti, esternalizzanti e di intolleranza all’incertezza e che, allo stesso modo, le madri non presentavano sintomi depressivi. Interessante è il dato che riportava, invece, una maggiore presenza di ansia inibitoria nell’indagine dell’intolleranza all’incertezza legata alla forma più grave di malattia (PKU classica) rispetto ai pazienti che soffrivano di iperfenilalaninemia. Le correlazioni messe in luce dallo studio coinvolgono le forme di malattia e alcuni item della Survey ad hoc che indagano la qualità di vita dei pazienti pediatrici, indicandone una qualità peggiore in bambini e adolescenti con forme più gravi di PKU. Infine, un’ultima correlazione di rilievo riguarda la forma di malattia e la sottoscala dell’ansia inibitoria individuata nel costrutto dell’intolleranza all’incertezza, in accordo con quanto detto precedentemente circa la sua maggiore presenza in soggetti con una forma più grave della malattia.
Valutazione dell'intolleranza all'incertezza, di sintomi internalizzanti ed esternalizzanti in bambini e adolescenti affetti da PKU e di sintomi depressivi nelle loro madri
FUREGATO, MARIA LUISA
2022/2023
Abstract
Phenylketonuria (PKU) is a rare autosomal recessive disease that impairs the metabolism of the amino acid phenylalanine (Phe) through genetic mutations in the enzyme phenylalanine hydroxylase (PAH). Thus, the enzyme cannot efficiently perform its regulatory activity against phenylalanine (Phe), going on to cause increased concentrations of it in the blood circulation of the sufferer. Because it is a chronic disorder, there is no cure that guarantees a cure, but one can intervene, avoiding serious damage to the cognitive functions of the individual, with treatments that go to regulate and lower the levels of phenylalanine (Phe) in the body: dietary restriction of phenylalanine (Phe), administration of tetrahydrobiopterin (BH4), supplementation of large neutral amino acids (LNAA), and administration of pegvaliase (PEG-PAL). Considering the onerous situation imposed by the disease, a study investigating the psychological functioning of children and adolescents with PKU and their mothers was carried out; in particular, the presence of internalizing and externalizing symptoms, uncertainty intolerance in pediatric patients, and depressive symptoms in their mothers were investigated through the use of some test instruments. In addition, differences in terms of the presence of these constructs were explored among the three forms of the disease: classic PKU, the most severe; BH4 responsive PKU and hyperphenylalaninemia (HPA), the mildest. Finally, the presence of correlations between disease severity and certain psychological constructs (internalizing and externalizing symptoms, uncertainty intolerance) was predicted. This investigation showed that mainly children and adolescents with PKU did not experience high levels of internalizing, externalizing and uncertainty intolerance symptoms, and similarly, mothers did not experience depressive symptoms. Interestingly, however, they reported a greater presence of inhibitory anxiety in the investigation of uncertainty intolerance related to the most severe form of the disease (classical PKU) than patients suffering from hyperphenylalaninemia. The correlations highlighted by the study involve the forms of the disease and some Ad Hoc Survey items investigating the quality of life of pediatric patients, indicating a worse quality of life in children and adolescents with more severe forms of PKU. Finally, a final major correlation involves the form of the disease and the subscale of inhibitory anxiety identified in the uncertainty intolerance construct, in agreement with what was said earlier about its greater presence in subjects with a more severe form of the disease.File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.12608/47514