Dendritic spine membrane proteome and its alterations in autistic spectrum disorder

2022 ◽  
pp. 435-474
Author(s):  
Ana Sofía Vallés ◽  
Francisco J. Barrantes
2018 ◽  
Vol 15 (2) ◽  
pp. 99
Author(s):  
Oktafian Farhan ◽  
Agus Subekti

Autisme merupakan disabilitas perkembangan yang dialami sepanjang hidup penderita Autistic Spectrum Disorder (ASD). Semakin cepat ditangani, semakin besar kemungkinan anak akan kembali normal. Untuk alasan ini, diperlukan metode baru yang dapat membantu orang tua dengan cepat mengenali gejala autisme pada anak-anak mereka. Dalam studi sebelumnya yang dilakukan oleh Fadi Fayez Tabhtah, suatu data set dihasilkan untuk mendeteksi apakah seorang anak memiliki autisme atau tidak. Tetapi penelitiannya hanya menghasilkan data set, ia tidak memeriksa lebih lanjut dimana algoritma cocok untuk data set yang telah dihasilkan. Atribut data set ternyata memiliki nilai yang salah, yang mengundang pertanyaan tentang keakurasian data. Dalam penelitian ini peneliti menggunakan metode CRISP-DM dan menguji keakuratan data set penelitian sebelumnya menggunakan algoritma C.45. Selanjutnya, aplikasi WEKA menggunakan pemilihan fitur dan pengaruh dari nilai yang salah untuk setiap atribut dan menemukan atribut yang paling signifikan. Atribut-atribut ini kemudian diuji dengan algoritma C.45 sehingga model prediksi dari data set diperoleh. Atribut A6 dari perhitungan pohon keputusan tidak muncul sama sekali sebagai cabang. Sebuah model baru diperoleh di mana atribut A6 dihilangkan, sehingga ketika diukur oleh algoritma C.45, nilai akurasi yang lebih baik diperoleh. Hasil model baru kemudian diuji pada data kuesioner baru, yang menghasilkan prediksi yang tepat.


2016 ◽  
Vol 15 (4) ◽  
pp. 390-402 ◽  
Author(s):  
Sarah A. Khan ◽  
Shahida A. Khan ◽  
A.R. Narendra ◽  
Gohar Mushtaq ◽  
Solafa A. Zahran ◽  
...  

2021 ◽  
Vol 11 (7) ◽  
pp. 924
Author(s):  
Claudia B. Pratesi ◽  
Alessandra Baeza Garcia ◽  
Riccardo Pratesi ◽  
Lenora Gandolfi ◽  
Mariana Hecht ◽  
...  

Studies have shown that children and adolescents with autism and their relatives present a high level of stress and more family problems, impacting parents’ and caregivers’ quality of life (QoL). Despite studies on this subject, there is no specific questionnaire to evaluate QoL in parents or caregivers of children and adolescents with an autistic spectrum disorder (ASD) in Brazil. Therefore, this study’s primary purpose was to develop and validate a specific questionnaire to evaluate QoL in these individuals. The study was performed using the following steps: development of the ASD Parent/caregiver QoL questionnaire (autistic spectrum disorder parent/caregiver quality of life—ASDPC-QoL), subjective evaluation, validation of the questionnaire by the Delphi method, assessment of internal consistency, responsiveness, and reliability of the ASLPC-QoL, and administration of the questionnaire to 881 Brazilian ASD caregivers or parents. ASDPC-QoL comprises 28 questions divided into four domains (social, concerns, physical and mental health) with good psychometric properties (reproducibility, reliability, internal consistency, responsiveness, and validity). Our data showed that worries and physical health were the domains with the lowest scores in ASDPCA-QoL. ASDPCA-QoL did not differ among gender and age of child considering the total and all domains. Older participants (≥41 y/o) presented the best scores for social and worries domains but did not differ in other domains and the total. Parents or caregivers of ASD children diagnosed for more than three years have better mental and physical health domains than those recently diagnosed (up to 1 year) but did not differ in the total and other domains. Individuals with a partner and with the highest educational level present the best score for the social domain. Employed individuals showed better scores than unemployed ones for all domains and the total, except for worries, which did not differ. It also occurred comparing the individuals that do not use antidepressants and the ones that use them. Assessing and better understanding the QoL of caregivers is highly relevant. By understanding the social, worries, physical, and emotional health domains of caregivers, it is possible to track harmful aspects, prevent and treat pathologies, in addition to assisting in the implementation of effective public policies.


2009 ◽  
Vol 40 (7) ◽  
pp. 1171-1181 ◽  
Author(s):  
F. Toal ◽  
E. M. Daly ◽  
L. Page ◽  
Q. Deeley ◽  
B. Hallahan ◽  
...  

BackgroundAutistic spectrum disorder (ASD) is characterized by stereotyped/obsessional behaviours and social and communicative deficits. However, there is significant variability in the clinical phenotype; for example, people with autism exhibit language delay whereas those with Asperger syndrome do not. It remains unclear whether localized differences in brain anatomy are associated with variation in the clinical phenotype.MethodWe used voxel-based morphometry (VBM) to investigate brain anatomy in adults with ASD. We included 65 adults diagnosed with ASD (39 with Asperger syndrome and 26 with autism) and 33 controls who did not differ significantly in age or gender.ResultsVBM revealed that subjects with ASD had a significant reduction in grey-matter volume of medial temporal, fusiform and cerebellar regions, and in white matter of the brainstem and cerebellar regions. Furthermore, within the subjects with ASD, brain anatomy varied with clinical phenotype. Those with autism demonstrated an increase in grey matter in frontal and temporal lobe regions that was not present in those with Asperger syndrome.ConclusionsAdults with ASD have significant differences from controls in the anatomy of brain regions implicated in behaviours characterizing the disorder, and this differs according to clinical subtype.


2021 ◽  
Vol 132 ◽  
pp. S136
Author(s):  
Josef Srovnal ◽  
Zuzana Capkova ◽  
Pavlina Capkova ◽  
Martin Prochazka ◽  
Marian Hajduch

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