Pubmed du 20/10/24
1. Horecka-Lewitowicz A, Lewitowicz W, Wawszczak-Kasza M, Lim H, Lewitowicz P. Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects. Int J Mol Sci. 2024; 25(20).
The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as being caused by alterations in the gut-brain axis with an emphasis on gut dysbiosis, post-vaccine complications, and genetic or even autoimmune causes. In this review, we present data covering the main streams that focus on ASD etiology. Data collection occurred in many countries covering ethnically diverse subjects. Moreover, we aimed to show how the progress in genetic techniques influences the explanation of medical White Papers in the ASD area. There is no single evidence-based pathway that results in symptoms of ASD. Patient management has constantly only been symptomatic, and there is no ASD screening apart from symptom-based diagnosis and parent-mediated interventions. Multigene sequencing or epigenetic alterations hold promise in solving the disjointed molecular puzzle. Further research is needed, especially in the field of biogenetics and metabolomic aspects, because young children constitute the patient group most affected by ASD. In summary, to date, molecular research has confirmed multigene dysfunction as the causative factor of ASD, the multigene model with metabolomic influence would explain the heterogeneity in ASD, and it is proposed that ion channel dysfunction could play a core role in ASD pathogenesis.
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2. Wilczyński KM, Cichoń L, Stasik A, Kania K, Rodak N, Wizner M, Janas-Kozik M. An Analysis of the Time Required for the Diagnosis of ASD and the Factors Influencing Its Duration in a Sample of the Pediatric Population from Poland. J Clin Med. 2024; 13(20).
Background/Objectives: Early diagnosis of autism spectrum disorder (ASD) is a very important factor for improving the quality of life of people on the spectrum, but it still remains a major problem in Europe, especially concerning girls. In this study, we tried to answer the question of what factors affect the age of diagnosis in Poland. Additionally, we tried to establish the time between the first visit to the mental health center (MHC) and the diagnosis in this population, and what factors affect its length. Methods: 77 children were randomly recruited among the patients who came to local MHC at the Child and Family Health Centre in Sosnowiec. All participants were tested using the ADOS-2 protocol. In addition, the study used the TAS-20 test and BDI. Results: The mean age of the first enrollment in the MHC was 9.09 years for girls and 6.42 for the boys. The time needed to obtain a diagnosis from the first visit was consecutively 2.90 years and 4.29 years, but the difference was not statistically significant (p > 0.05). Obtaining a different psychiatric diagnosis did not affect the average time to diagnosis and the age of diagnosis. Conclusions: The results of the study indicate that the diagnosis of ASD is still a significant problem both in Poland and in the world. Obtaining an accurate diagnosis requires significant time, and it frequently involves consulting multiple specialists. The diagnostic process should be flexible, and the specialist should always take into account the axial symptoms but remain aware that the « overdiagnosis » of ASD can also have harmful consequences for the child.
