DeustoTeka Examinando por Autor "Luna Ovalle, Paula"

Examinando por Autor "Luna Ovalle, Paula"

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Aspectos neuropsicológicos de personas afectadas por fenilcetonuria
(Universidad de Deusto, 2024-11-15) Luna Ovalle, Paula; López Paz, Juan Francisco; García Martín, Maitane; Facultad de Ciencias de la Salud
La fenilcetonuria (PKU, por sus siglas en inglés) es un trastorno metabólico hereditario caracterizado por una deficiencia en la enzima fenilalanina hidroxilasa (PAH), la cual es necesaria para la conversión del aminoácido fenilalanina (Phe) en tirosina (Tyr, por sus siglas en inglés). La acumulación de fenilalanina en la sangre conduce a una variedad de complicaciones neurológicas si no se trata. Los principales síntomas de la fenilcetonuria incluyen discapacidad intelectual, problemas de comportamiento, convulsiones y un distintivo olor a humedad en el aliento, la piel y la orina debido al exceso de fenilalanina. Los programas de detección neonatal han mejorado significativamente la detección temprana de la fenilcetonuria, permitiendo intervenciones dietéticas oportunas que restringen la ingesta de fenilalanina, lo cual es esencial para prevenir el deterioro cognitivo y otros resultados graves. La fenilcetonuria tiene una prevalencia de aproximadamente 1 por cada 10.000/15.000 nacidos vivos en todo el mundo, con variaciones dependiendo de la población. La base principal de esta tesis explora el impacto neuropsicológico de la fenilcetonuria, destacando la importancia de la monitorización y el apoyo continuos para las personas que viven con esta enfermedad metabólica a lo largo de sus vidas, y cómo esto puede influir en las manifestaciones psicológicas y conductuales, y en la calidad de vida. Para realizar esta investigación, se reclutó una muestra de 40 personas, divididas en un grupo experimental (n = 20) con fenilcetonuria clásica, y un grupo de control (n = 20) emparejado por edad, género y años de educación. Se evaluaron variables cognitivas como funciones ejecutivas, fluidez verbal, funciones visoespaciales, lenguaje, memoria, velocidad de procesamiento y cognición social, además de los aspectos conductuales, psicológicos y de calidad de vida. Los resultados revelaron que las personas con fenilcetonuria tienen un rendimiento cognitivo inferior en comparación con las personas sin este diagnóstico en áreas como el funcionamiento ejecutivo, las funciones visuoespaciales, la memoria, la velocidad de procesamiento y la cognición social. Además, los participantes con niveles de fenilalanina <600 mumol/l mostraron un mejor rendimiento en general que aquellos con niveles >600 mumol/l. En cuanto a la calidad de vida, los resultados sugirieron que las personas con este diagnóstico tienen un impacto significativo, especialmente en la ansiedad debido a los niveles de fenilalanina en general y durante el embarazo, sentimientos de culpa por una baja adherencia a los suplementos y su sabor, y finalmente, culpa por no seguir una dieta baja en fenilalanina. Estos resultados apoyan la importancia de un diagnóstico temprano, para comenzar lo antes posible el control metabólico correspondiente, basado principalmente en una dieta baja en proteínas y la ingesta de suplementos a lo largo de la vida. Esto permitirá un adecuado desarrollo cognitivo y, por lo tanto, que las personas afectadas por fenilcetonuria puedan tener una mejor calidad de vida.
Cognitive functioning in adults with phenylketonuria in a cohort of Spanish patients
(Hindawi Limited, 2023) Luna Ovalle, Paula; López Paz, Juan Francisco; García Martín, Maitane; Amayra Caro, Imanol; Martínez, Óscar; Pérez Álvarez, Manuel; Rodríguez Bermejo, Alicia Aurora; Pérez Núñez, Paula; Ceberio, Imanol; Mansilla, Noelia; Soria, Cristina
The early introduction of a low phenylalanine (Phe) diet has been demonstrated to be the most successful treatment in subjects with phenylketonuria (PKU), especially for preventing severe cognitive and neurological damages. However, it still concerns that even if treated in the first months of life with supplements and following a diet, they can show slight scores below people without PKU in neuropsychological assignments. We investigated 20 adults with classical PKU aged 19-48 years (mean age 29 years) and 20 heathy controls matched by age, gender, and years of education. Patients and controls were assessed with an extended neuropsychological battery, as well as psychological aspects and quality of life, also the last Phe level result was obtained. Results showed that the most affected cognitive domains are processing speed, executive functioning, memory, and also theory of mind, but very well-preserved verbal fluency, language, and visuospatial functioning. In quality of life, some significant results were seen specially in anxiety of Phe levels, anxiety of Phe levels during pregnancy, guilt if poor adherence to supplements, and if dietary protein restriction not followed. No significant results were obtained for the psychological variables. In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
(BioMed Central Ltd, 2020-10-19) Berrocoso Cascallana, Sarah; Amayra Caro, Imanol; Lázaro Pérez, Esther; Martínez, Óscar; López Paz, Juan Francisco; García Martín, Maitane; Pérez Álvarez, Manuel; Al-Rashaida, Mohammad Ali Hussein; Rodríguez Bermejo, Alicia Aurora; Luna Ovalle, Paula; Pérez Núñez, Paula; Blanco, Raquel; Nevado, Julián
Background: Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. Results: The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents’ QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. Conclusions: WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers’ well-being and QoL by strengthening their social support network and using positive coping styles.
Diseases costs and impact of the caring role on informal carers of children with neuromuscular disease
(MDPI AG, 2021-03-15) Rodríguez Bermejo, Alicia Aurora ; Martinez Gutierrez, Oscar ; Amayra Caro, Imanol ; López Paz, Juan Francisco; Al-Rashaida, Mohammad Ali Hussein ; Lázaro Pérez, Esther; Caballero, Patricia ; Pérez Álvarez, Manuel ; Berrocoso Cascallana, Sarah; García Martín, Maitane; Luna Ovalle, Paula ; Pérez Núñez, Paula ; Passi, Nicole
This study aims to evaluate the costs of informal care for children with neuromuscular disease and evaluate how physical and psychological health is associated with socio-demographic variables. A cross sectional design was used with a convenience sample of 110 carers that participated in this study. Participants were recruited from Spanish hospitals and rare diseases organizations. Economic costs and sociodemographic aspects were assessed using the economic costs questionnaire and the sociodemographic questionnaire. Physical and psychological health was evaluated using the CarerQol-7D, PHQ-15, Barthel Index, Zarit Overload Scale and Satisfaction with Life Scale. Carers of children with neuromuscular disease spent a large percentage of their annual income in physical therapy, psychological care and speech therapy. Informal costs differed according to the degree of dependency of the child. These were higher in those caregivers whose child under their care presented low functional independence. The loss of work productivity was related to marital status, use of professional services and the child’s dependency. Finally, carers who were female, single or separated and without a job showed worse physical and psychological health. The results highlighted that carers have to face a number of high costs because of the non-existence of social protection and due to the child’s diagnosis.
Effects of teleassistance on the quality of life of people with rare neuromuscular diseases according to their degree of disability
(Frontiers Media S.A., 2021-03) Martínez, Óscar; Amayra Caro, Imanol; López Paz, Juan Francisco; Lázaro Pérez, Esther; Caballero, Patricia; García Urquiza, Irune; Rodríguez Bermejo, Alicia Aurora; García Martín, Maitane; Luna Ovalle, Paula; Pérez Núñez, Paula; Barrera, Jaume; Passi, Nicole; Berrocoso Cascallana, Sarah; Pérez Álvarez, Manuel; Al-Rashaida, Mohammad Ali Hussein
Rare neuromuscular diseases (RNMDs) are a group of pathologies characterized by a progressive loss of muscular strength, atrophy, fatigue, and other muscle-related symptoms, which affect quality of life (QoL) levels. The low prevalence, high geographical dispersion and disability of these individuals involve difficulties in accessing health and social care services. Teleassistance is presented as a useful tool to perform psychosocial interventions in these situations. The main aim of this research is to assess the effects of a teleassistance psychosocial program on the QoL levels of people with RNMDs who have different levels of disability. A sample of 73 participants was divided into an experimental group (n = 40), which participated in the intervention, and a control wait list group (n = 33). QoL was evaluated through the SIP and the SF-36, and disability through the WHO-DAS II. The participants with a moderate to severe level of disability were those who most benefited from the intervention. The results also revealed that the psychosocial teleassistance program was suitable to improve physical and psychosocial aspects of people suffering from a rare neuromuscular disease with a moderate level of disability, but just psychosocial aspects in those with a severe level of disability.
Intrusion errors during verbal fluency task in amyotrophic lateral sclerosis
(Public Library of Science, 2020-05-29) Pérez Álvarez, Manuel; Amayra Caro, Imanol; Lázaro Pérez, Esther; García Martín, Maitane; Martínez, Óscar; Caballero, Patricia; Berrocoso Cascallana, Sarah; López Paz, Juan Francisco; Al-Rashaida, Mohammad Ali Hussein; Rodríguez Bermejo, Alicia Aurora; Luna Ovalle, Paula; Varona, Luis
Background Numerous studies have noted the presence of a dysexecutive component of the ALS-FTD. The most widely replicated result refers to the significantly reduced verbal fluency of ALS patients when compared to healthy people. As ALS patients have motor alterations that interfere with production, qualitative studies have the advantage of being independent of the degree of motor disability and revealing patients' cognitive state. This study examined the production differences between 42 ALS patients who presented with different degrees of dementia and motor impairment and 42 healthy people. Production processes were studied by extending the administration time of a letter fluency task to 2 minutes for the phonemic verbal fluency (PVF) and semantic verbal fluency (SVF) categories. This ensured that the qualitative aspects of verbal fluency were addressed, paying special attention to the new perseverations and intrusions, as well as any clinical correlates that may exist. Results The ALS patients produced a significantly lower number of responses in PVF (p = .017) and SVF (p = .008). The rest of the indicators for frontal lobe alteration also suggested the existence of a dysfunction. The most remarkable results were the number of intrusions on the PVF task, which was much higher in the ALS group (p = .002). However, the number of perseverations did not differ significantly. Conclusions This study highlights the value of intrusions in addressing cognitive deterioration in ALS patients. This deterioration seems to be independent of the degree of motor impairment and of behavioural alterations. Therefore, the value of the intromissions on the verbal fluency task was highlighted as an indicator of a new cognitive alteration, which can be easily evaluated, even retrospectively.
Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
(BioMed Central Ltd, 2021-11-20) Pérez Núñez, Paula; Lázaro Pérez, Esther ; Amayra Caro, Imanol ; López Paz, Juan Francisco; Caballero, Patricia; Martinez Gutierrez, Oscar; Pérez, Manuel; Berrocoso Cascallana, Sarah; Al-Rashaida, Mohammad Ali Hussein; García Martín, Maitane; Rodríguez Bermejo, Alicia Aurora; Luna Ovalle, Paula
Introduction: Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge to provide a diagnosis and psychological treatment for affected children. Method: The main objective of this study was to describe a form of music therapy treatment applied to three children diagnosed with MPS III. The psychological variables were evaluated by an ad hoc observation recording template, and the physiological variables were measured with a digital meter before and after each session. The perception of the parents was also considered through a semi-structured interview. Results: An improvement in the psychological variables was shown in all cases. Changes in the physiological variables were also noted, although they varied according to each child. The parents report some benefit of music therapy and they share difficulty in assessing the extent of benefits of the music therapy. Discussion: Findings indicate that music therapy can be a useful form of treatment with multiple benefits for children with conditions such as MPS III or similar conditions. However, further research is needed in this area and in the development of specific ways of evaluating music therapy.
The role of associations in reducing the emotional and financial impact on parents caring for children with Duchenne Muscular Dystrophy: a cross-cultural study
(MDPI, 2022-09-22) Rodríguez Bermejo, Alicia Aurora ; Amayra Caro, Imanol ; López Paz, Juan Francisco; Martínez, Óscar ; García Martín, Maitane ; Salgueiro, Monika ; Al-Rashaida, Mohammad Ali Hussein; Luna Ovalle, Paula ; Pérez Núñez, Paula ; Passi, Nicole ; García Urquiza, Irune; Ortega, Javiera
Caregivers’ emotions and finances are affected by the deterioration of functional capacity of patients with Duchenne muscular dystrophy (DMD), both in Mexico and Spain. Patient associations may reduce this impact on caregivers. This study aims to study the role of two models of associations, inspired by two different cultural models, in how the services they provide can help decrease the emotional and financial impact on the caregivers of children with DMD. The sample consisted of 34 caregivers from Mexico and 40 from Spain recruited from Spanish hospitals and rare disease organizations in Spain and Mexico. The instruments used consisted of a sociodemographic and socioeconomic questionnaire, the CarerQol-7D, the PHQ-15, the Zarit Caregiver’s Burden Scale and the SWLS. The results showed that caregivers in Mexico are in better physical and psychological health than caregivers in Spain. They also receive more subsidies than those in Spain. Caregivers in Mexico have a greater well-being and are less affected by the economic impact of the disease due to the associations’ day-to-day work and the fact that they generate a network of health services that they make available to the patient free of charge. These differences may also be attributable to cultural issues and to the fact that Mexico has a deeply established culture of support.
Using a virtual serious game (Deusto-e-motion1.0) to assess the theory of mind in primary school children: observational descriptive study
(JMIR Publications Inc., 2020-04-02) Lázaro Pérez, Esther; Amayra Caro, Imanol; López Paz, Juan Francisco; Martínez, Óscar; Pérez Álvarez, Manuel; Berrocoso Cascallana, Sarah; Al-Rashaida, Mohammad Ali Hussein; García Martín, Maitane; Luna Ovalle, Paula; Pérez Núñez, Paula; Rodríguez Bermejo, Alicia Aurora; Fernández, Paula; Parada Fernández, Pamela; Oliva Macías, Mireia
Background: Given the interactive media characteristics and intrinsically motivating appeal, virtual serious games are often praised for their potential for assessment and treatment. Objective: This study aims to validate and develop normative data for a virtual serious game (Deusto-e-motion1.0) for the evaluation of emotional facial expression recognition and social skills, both of which are components of the theory of mind. Methods: A total of 1236 children took part in the study. The children were classified by age (8-12 years old), gender (males=639, females=597), and educational level (between the third and sixth years of Primary Education). A total of 10 schools from the Basque Country and 20 trained evaluators participated in this study. Results: Differences were found in Deusto-e-motion1.0 scores between groups of children depending on age and gender. Moreover, there was a moderately significant correlation between the emotional recognition scores of Deusto-e-motion1.0 and those of the Feel facial recognition test. Conclusions: Deusto-e-motion1.0 shows concurrent validity with instruments that assess emotional recognition. Results support the adequacy of Deusto-e-motion1.0 in assessing components of the theory of mind in children.

Examinando por Autor "Luna Ovalle, Paula"

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