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A Síndrome X-Frágil é uma doença genética hereditária causada pela mutação no gene FMR1
no cromossoma X, responsável pela deficiência intelectual. Esta síndrome é caraterizada por
diversas manifestações fenotípicas que envolvem a presença de alterações nos domínios
cognitivo (incluindo as funções executivas), linguístico, comportamental, motor e sensorial,
associadas muitas vezes a Perturbações do Neurodesenvolvimento. Objetivo: o presente estudo
pretendeu contribuir para uma visão mais abrangente do funcionamento executivo na Síndrome
X-Frágil e do impacto das comorbilidades associadas, por intermédio de uma metodologia de
avaliação indireta do comportamento executivo. Metodologia: o Inventário Comportamental de
Avaliação das Funções Executivas versão para Pais (ICAFE-P) foi preenchido numa versão
online por 28 pais/cuidadores de crianças e adolescentes com Síndrome X-Frágil com idades
compreendidas entre os 7 e os 18 anos. Para o efeito de tratamento de dados, recorreu-se à
análise percentual e estatística das respostas parentais. Resultados: a amostra apresentou um
perfil clínico de gravidade moderada, com comorbilidades associadas nomeadamente em
termos das dificuldades de aprendizagem. Do ponto de vista das funções executivas, as
respostas parentais revelaram que a escala mais significativamente prejudicada foi a escala de
Memória de Trabalho e a escala menos prejudicada foi a escala de Organização de Materiais.
O Índice de Metacognição foi o mais prejudicado em termos globais, enquanto o Índice de
Regulação Comportamental foi o mais significativamente prejudicado em termos da influência
da gravidade clínica do diagnóstico Síndrome X-Frágil. A idade não demonstrou influenciar
significativamente o perfil executivo. Relativamente às comorbilidades associadas, apenas a
Perturbação do Desenvolvimento Intelectual apresentou diferenças estatisticamente
significativas entre os subgrupos Síndrome X-Frágil em termos metacognitivos. Conclusões:
com base nos resultados obtidos, foi possível estabelecer uma nova visão acerca dos pontos
fortes e fracos do perfil executivo da Síndrome X-Frágil na população portuguesa, com a
utilização de avaliação indireta. A escala de Memória de Trabalho foi a mais prejudicada em
termos das dificuldades no foco atencional e na manutenção da atenção durante o período de
tempo necessário para o término da tarefa, associadas a atrasos do neurodesenvolvimento
específicos da própria síndrome. As escalas de Monitorização, Planeamento e Alternância
foram igualmente evidenciadas pelos pais/cuidadores como mais prejudicadas, mas não a escala
de Inibição como esperado. A escala de Organização de Materiais foi a menos prejudicada,
provavelmente devido à intervenção frequente em contexto familiar. Nos índices clínicos, o
Índice de Metacognição revelou ser o mais prejudicado globalmente, possivelmente devido à
forte associação desta síndrome com a deficiência intelectual. No entanto, o Índice de
Regulação Comportamental mostrou-se mais suscetível a alterações que variam de acordo com
a gravidade clínica da Síndrome X-Frágil, uma vez que quanto maior a gravidade do
diagnóstico clínico, maiores as manifestações fenotípicas cognitivas e comportamentais
associadas. No âmbito do impacto das comorbilidades, verificou-se que a presença de
Perturbação do Desenvolvimento Intelectual interferiu significativamente nas funções
executivas. Nas restantes comorbilidades analisadas, a presença de Perturbação de
Hiperatividade/Défice de Atenção e de Perturbação do Espectro do Autismo não interferiram
significativamente nas funções executivas da Síndrome X-Frágil, sendo que a sua influência
poderá estar potencialmente associada aos critérios de diagnóstico que as definem e que se
manifestam nos quadros fenotípicos desta síndrome que não justificam os défices executivos.
Fragile X Syndrome is an inherited genetic disorder caused by a mutation in the FMR1 gene on the X chromosome, responsible for intellectual disability. This syndrome is characterized by several phenotypic manifestations that involve the presence of alterations in the cognitive (including executive functions), linguistic, behavioral, motor and sensory domains, associated with Neurodevelopmental Disorders Objective: this study intended to contribute to a broader view of executive functioning in Fragile X Syndrome and its associated comorbidities, through an indirect assessment methodology of executive behavior. Methodology: the Behavioral Assessment of Executive Functions Inventory for Parents (ICAFE-P) was completed in an online version by 28 parents/caregivers of children and adolescents with Fragile X Syndrome aged between 7 and 18 years. For the purpose of data treatment, we used the percentagem and statistical analysis of parental responses. Results: the sample presented a clinical profile of moderate severity, with associated comorbilities namely in terms of learning difficulties. From the standpoint of executive functions, parental responses revealed that the most significantly impaired scale was the Working Memory scale and the least impaired scale was the Material Organization scale. The Metacognitive Index was the most impaired overall, while the Behavioral Regulation Index was the most significantly impaired in terms of the influence of the clinical severity of the Fragile X Syndrome diagnosis. Age has not been shown to significantly influence the executive profile. Regarding the associated comorbidities, only Intellectual Development Disorder showed statistically significant differences between the Fragile X Syndrome sobgroups. Conclusions: based on the results obtained, it was possible to establish a new vision about the strenghts and weaknesses of the executive profile of the Fragile X Syndrome in portuguese population, using indirect assessment. The Working Memory scale was the most impaired in terms of difficulties in focusing attention and maintaining attention during the period of time necessary to complete the task, associated with neurodevelopmental delays specific to the syndrome itself. The Monitor, Planning and Alternation scales were also evidenced by parents/caregivers as more impaired, but not the Inhibition scale as expected. The Material Organization scale was the least affected, possibly due to frequente intervention in the family context. In the clinical indexes, the Metacognition Index proved to be the most impaired globally, possibly due the strong association of this syndrome with intelectual disability. However, the Behavioral Regulation Index proved to be more susceptible to changes that vary according to the clinical severity of Fragile X Syndrome, since the greater the severity of clinical diagnosis, the greater the associated cognitive and behavioral phenotypic manifestations. In terms of the impact of comorbidities, it was found that the presence of Intellectual Developmental Disorder significantly interferes with executive functions. In the remaining comorbidities analyzed, the presence of Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder did not significantly interfere in the executive functions of Fragile X Syndrome, and their influence could potentially be associated with the diagnostic criteria that define them and their manifested in phenotypic pictures of this syndrome that do not justify executive deficits.
Fragile X Syndrome is an inherited genetic disorder caused by a mutation in the FMR1 gene on the X chromosome, responsible for intellectual disability. This syndrome is characterized by several phenotypic manifestations that involve the presence of alterations in the cognitive (including executive functions), linguistic, behavioral, motor and sensory domains, associated with Neurodevelopmental Disorders Objective: this study intended to contribute to a broader view of executive functioning in Fragile X Syndrome and its associated comorbidities, through an indirect assessment methodology of executive behavior. Methodology: the Behavioral Assessment of Executive Functions Inventory for Parents (ICAFE-P) was completed in an online version by 28 parents/caregivers of children and adolescents with Fragile X Syndrome aged between 7 and 18 years. For the purpose of data treatment, we used the percentagem and statistical analysis of parental responses. Results: the sample presented a clinical profile of moderate severity, with associated comorbilities namely in terms of learning difficulties. From the standpoint of executive functions, parental responses revealed that the most significantly impaired scale was the Working Memory scale and the least impaired scale was the Material Organization scale. The Metacognitive Index was the most impaired overall, while the Behavioral Regulation Index was the most significantly impaired in terms of the influence of the clinical severity of the Fragile X Syndrome diagnosis. Age has not been shown to significantly influence the executive profile. Regarding the associated comorbidities, only Intellectual Development Disorder showed statistically significant differences between the Fragile X Syndrome sobgroups. Conclusions: based on the results obtained, it was possible to establish a new vision about the strenghts and weaknesses of the executive profile of the Fragile X Syndrome in portuguese population, using indirect assessment. The Working Memory scale was the most impaired in terms of difficulties in focusing attention and maintaining attention during the period of time necessary to complete the task, associated with neurodevelopmental delays specific to the syndrome itself. The Monitor, Planning and Alternation scales were also evidenced by parents/caregivers as more impaired, but not the Inhibition scale as expected. The Material Organization scale was the least affected, possibly due to frequente intervention in the family context. In the clinical indexes, the Metacognition Index proved to be the most impaired globally, possibly due the strong association of this syndrome with intelectual disability. However, the Behavioral Regulation Index proved to be more susceptible to changes that vary according to the clinical severity of Fragile X Syndrome, since the greater the severity of clinical diagnosis, the greater the associated cognitive and behavioral phenotypic manifestations. In terms of the impact of comorbidities, it was found that the presence of Intellectual Developmental Disorder significantly interferes with executive functions. In the remaining comorbidities analyzed, the presence of Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder did not significantly interfere in the executive functions of Fragile X Syndrome, and their influence could potentially be associated with the diagnostic criteria that define them and their manifested in phenotypic pictures of this syndrome that do not justify executive deficits.
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Síndrome X-Frágil Funções executivas ICAFE-P Fragile X syndrome Executive functions