As funções executivas na síndrome X-Frágil

Abstract

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 Neuro developmental Disorders Objective: this study intended to contribute to a broaderview of executive functioning in Fragile X Syndrome and its associated comorbidities, throughan indirect assessment methodology of executive behavior. Methodology: the BehavioralAssessment of Executive Functions Inventory for Parents (ICAFE-P) was completed in anonline version by 28 parents/caregivers of children and adolescents with Fragile X Syndromeaged 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 sob groups. 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 there maining 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.

Date of Award	25 Nov 2021
Original language	Portuguese
Awarding Institution	Universidade Católica Portuguesa
Supervisor	Filipa Ribeiro (Supervisor) & Cláudia Bandeira de Lima (Co-Supervisor)