RESUMEN
The daily functioning and overall well-being of people with ASD depends largely on understanding how the wider public views ASD. Indeed, an increased level of ASD knowledge in the general population may result in earlier diagnosis, earlier intervention, and better overall outcomes. The present study aimed to examine the current state of ASD knowledge, beliefs, and sources of information in a Lebanese general population sample, to identify the factors that could influence this knowledge. A total of 500 participants were involved in this cross-sectional study, which was conducted in Lebanon between May 2022 and August 2022 using the Autism Spectrum Knowledge scale, General Population version (ASKSG). Overall, the participants' understanding of autism spectrum disorder was low, with a mean score of 13.8 (6.69) out of 32, or 43.1%. The highest knowledge score was found for items related to knowledge of the symptoms and associated behaviors (52%). However, the level of knowledge regarding the etiology and prevalence, assessment and diagnosis, treatment, outcomes, and prognosis of the disease was low (29%, 39.2%, 46%, and 43.4%, respectively). Moreover, age, gender, place of residence, sources of information, and ASD case were all statistically significant predictors of ASD knowledge (p < 0.001, p < 0.001, and p = 0.012, p < 0.001, p < 0.001, respectively). The general public in Lebanon perceive a lack of awareness and insufficient knowledge regarding ASD. This results in delayed identification and intervention, leading to unsatisfactory outcomes in patients. Raising awareness about autism among parents, teachers, and healthcare professionals should be a top priority.
Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Personal Docente , Humanos , Adulto , Trastorno del Espectro Autista/epidemiología , Estudios Transversales , PrevalenciaRESUMEN
In our previous study, in which array CGH was used on 19 Lebanese ASD subjects and their parents, we identified rare copy number variants (CNVs) in 14 subjects. The five remaining subjects did not show any CNVs related to autism spectrum disorders (ASD). In the present complementary study, we applied whole-exome sequencing (WES), which allows the identification of rare genetic variations such as single nucleotide variations and small insertions/deletions, to the five negative CNV subjects. After stringent filtering of initial data on the five families, three novel genes potentially related to neurodevelopment were identified, including a de novo mutation in the MIS18BP1 gene. In addition, genes already known to be related to ASD contained sequence variations. Our findings outline the potential involvement of the novel de novo mutation in the MIS18BP1 gene in the genetic etiology and pathophysiology of ASD and highlights the genetic complexity of these disorders. Further studies with larger cohorts of subjects are needed to confirm these observations, and functional analyses need to be performed to understand the precise pathophysiology in these cases.
Asunto(s)
Trastorno del Espectro Autista , Trastorno del Espectro Autista/genética , Variaciones en el Número de Copia de ADN , Exoma/genética , Humanos , Secuenciación del ExomaRESUMEN
Autism spectrum disorders (ASD) are among the most common childhood neurodevelopmental disorders. Identification of risk and protective factors are necessary to improve the guidance of prevention and intervention strategies. Our study aims to determine the potential risk and protective factors in ASD in the Lebanese population. Our case-control study included 100 ASD patients and 100 healthy matched controls recruited from all the Lebanese districts. The data collected from the questionnaires was analyzed using SPSS 23.0. Independent Student T-test and Chi-Square test were carried out for the bivariate analysis of the data. In addition, the variables revealing a p-value < 0.05 were used for the multivariate logistic regression analysis. Multivitamins intake, especially omega 3 and vitamin B (Odds Ratio (OR) = 0.257; 95% Confidence Interval (CI) [0.115-0.579]), rich cereal diet (OR = 0.212; 95% CI [0.089-0.510]), and supplementation in iron during pregnancy (OR = 0.229; 95% CI [0.083-0.627]) were identified as protective factors against ASD. On the other hand, stress during pregnancy (OR = 6.339; 95% CI [2.845-14.125]), the presence of ASD patients in the family (OR = 7.878; 95% CI [1.877-33.065]) and the presence of attention deficit hyperactivity disorder (ADHD) patients in the family (OR = 6.981; 95% CI [1.362-35.789]) were associated with ASD. This study shed light on risk and protective factors associated with ASD in the Lebanese population. Further rigorous research, taking into consideration these factors, is needed to assist in early detection, prevention and subsequent intervention targeting ASD and its associated comorbidities, given that our study is not experimental and does not prove causality.