scholarly journals Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders

2021 ◽  
Vol 14 ◽  
Author(s):  
Mario O. Caracci ◽  
Miguel E. Avila ◽  
Francisca A. Espinoza-Cavieres ◽  
Héctor R. López ◽  
Giorgia D. Ugarte ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Cell Fate ◽  
Pyramidal Neurons ◽  
Cell Types ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
High Confidence ◽  
Developmental Abnormalities ◽  
Cell Fate Decisions ◽  
Spectrum Disorders

Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by synaptic dysfunction and defects in dendritic spine morphology. In the past decade, an extensive list of genes associated with ASD has been identified by genome-wide sequencing initiatives. Several of these genes functionally converge in the regulation of the Wnt/β-catenin signaling pathway, a conserved cascade essential for stem cell pluripotency and cell fate decisions during development. Here, we review current information regarding the transcriptional program of Wnt/β-catenin signaling in ASD. First, we discuss that Wnt/β-catenin gain and loss of function studies recapitulate brain developmental abnormalities associated with ASD. Second, transcriptomic approaches using patient-derived induced pluripotent stem cells (iPSC) cells, featuring mutations in high confidence ASD genes, reveal a significant dysregulation in the expression of Wnt signaling components. Finally, we focus on the activity of chromatin-remodeling proteins and transcription factors considered high confidence ASD genes, including CHD8, ARID1B, ADNP, and TBR1, that regulate Wnt/β-catenin-dependent transcriptional activity in multiple cell types, including pyramidal neurons, interneurons and oligodendrocytes, cells which are becoming increasingly relevant in the study of ASD. We conclude that the level of Wnt/β-catenin signaling activation could explain the high phenotypical heterogeneity of ASD and be instrumental in the development of new diagnostics tools and therapies.

scholarly journals Autism Spectrum Disorders in Mali: Parental concerns about child developmental milestones and late diagnostic age

2020 ◽  
Author(s):  
Modibo Sangare ◽  
Ya Diarra ◽  
Djeneba Konate ◽  
Mohamed S Haidara ◽  
Adama Karembe ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Autistic Children ◽  
Medical Visit ◽  
Developmental Abnormalities ◽  
Medical Visits ◽  
Parental Concerns ◽  
Parental Recognition ◽  
Spectrum Disorders ◽  
Detection And Diagnosis

Abstract Background: In Mali, the national health facility-based prevalence of autism spectrum disorders (ASD) was 4.5% (105/2,343) and the age of first medical visit for autistic children was around 7 years old in 2018. Parental recognition of developmental abnormalities initiates the early autism detection and diagnosis. Our aim was to investigate if parental concerns were associated with early first medical visits and subsequent ASD diagnostic in Mali. Methods: We conducted a pilot study from November 2017 to July 2019. We surveyed parents of 57 out of 60 available autistic children aged 3-14 years old. Results: Parents were concerned over verbal communication in 54.1% and reciprocal social interaction in 43.8%. Children with ASD had their first medical visit after 18 months old in 66.7%, ≥ two medical visits in 87.7%, and were identified after 36 months old in 76.8%. Conclusion: Parental concerns were not significantly associated with early first medical visit and ASD identification. Our results will guide future full scale studies on parental concerns in ASD in Mali.

scholarly journals Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

2013 ◽  
Vol 19 (8) ◽  
pp. 872-879 ◽  
Author(s):  
E M Kenny ◽  
P Cormican ◽  
S Furlong ◽  
E Heron ◽  
G Kenny ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Spectrum Disorders

scholarly journals A Pilot Study on Autism Spectrum Disorders in Mali: Parental Concerns About Child Developmental Milestones and Late Diagnostic Age

2021 ◽  
Author(s):  
Modibo Sangare ◽  
Ya DIARRA ◽  
Djeneba Konate ◽  
Mohamed Sanoussi Haidara ◽  
Adama Karembe ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Pilot Study ◽  
Autism Spectrum ◽  
Autistic Children ◽  
Medical Visit ◽  
Developmental Abnormalities ◽  
Medical Visits ◽  
Parental Concerns ◽  
Spectrum Disorders ◽  
Detection And Diagnosis

Abstract BackgroundIn Mali, the health facility-based prevalence of autism spectrum disorders (ASD) in Mali was 4.5% (105/2,343) and the age of first medical visit for autistic children was around 7 years old in 2018. Parental recognition of developmental abnormalities initiates the early autism detection and diagnosis. We aimed to assess the feasibility of a main study to associate parental concerns with early first medical visits and subsequent ASD diagnostic in Mali.MethodsWe conducted a pilot study from November 2017 to July 2019. We surveyed 57 parents of autistic children aged 3-14 years old.ResultsParents were concerned over verbal communication in 54.1% and reciprocal social interaction in 43.8%. Children with ASD had their first medical visit after 18 months old in 66.7%, ≥ two medical visits in 87.7%, and were identified after 36 months old in 76.8%.ConclusionParental concerns were not significantly associated with early first medical visit and ASD identification. This pilot study will help in the design of larger studies on the same topic in Mali.

scholarly journals Autism Spectrum Disorders in Mali: Parental concerns about child developmental milestones and late diagnostic age

2020 ◽  
Author(s):  
Modibo Sangare ◽  
Ya Diarra ◽  
Djeneba Konate ◽  
Mohamed S Haidara ◽  
Adama Karembe ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Autistic Children ◽  
Medical Visit ◽  
Developmental Abnormalities ◽  
Medical Visits ◽  
Parental Concerns ◽  
Parental Recognition ◽  
Spectrum Disorders ◽  
Detection And Diagnosis

Abstract Background In Mali, the health facility-based prevalence of autism spectrum disorders (ASD) was 4.5% (105/2,343) and the age of first medical visit for autistic children was around 7 years old in 2018. Parental recognition of developmental abnormalities initiates the early autism detection and diagnosis. Our aim was to investigate if parental concerns were associated with early first medical visits and subsequent ASD diagnostic in Mali. Methods We conducted a pilot study from November 2017 to July 2019. We surveyed parents of 57 autistic children aged 3-14 years old. Results Parents were concerned over verbal communication in 54.1% and reciprocal social interaction in 43.8%. Children with ASD had their first medical visit after 18 months old in 66.7%, ≥ two medical visits in 87.7%, and were identified after 36 months old in 76.8%.Conclusion: Parental concerns were not significantly associated with early first medical visit and ASD identification. A full scale study will be conducted for more consistent results.

Exposure to Toxic Environmental Agents in the Form of Fragrances and Development of Autism Spectrum Disorders (ASD)

2019 ◽  
pp. 52-85 ◽  
Author(s):  
Omar Bagasra ◽  
Anisah Bagasra
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Body ◽  
Fetal Brain ◽  
Autism Spectrum ◽  
Scientific Data ◽  
Critical Periods ◽  
Developmental Abnormalities ◽  
Social Fabric ◽  
Environmental Agents ◽  
Spectrum Disorders

In this chapter, the authors explore how the human brain develops and what the critical stages are in which a fetal brain may acquire genetic and developmental abnormalities through environmental agents. They summarize the prevailing theories regarding the etiologies of autism and present scientific data supporting the thesis that some of the most commonly used environmental agents that we have so easily accepted into our social fabric of life may be major contributors in the development of autism spectrum disorders (ASD). They provide a large body of scientific data carried out in their laboratory, utilizing developing human neurons exposed to femtomolar concentrations of chemicals found in fragrances. The studies demonstrate that synthetic fragrances can impart profound neuromodifications at the morphologic, immunologic, and molecular levels. It is hypothesized that high exposure to teratogenic neurotoxins in our environment during critical periods of development best explains the rapid rise of autism spectrum disorder diagnosis over the past three decades.

scholarly journals A Pilot Study on Autism Spectrum Disorders in Mali: Parental concerns about child developmental milestones and late diagnostic age

2020 ◽  
Author(s):  
Modibo Sangare ◽  
Ya Diarra ◽  
Djeneba Konate ◽  
Mohamed S Haidara ◽  
Adama Karembe ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Pilot Study ◽  
Autism Spectrum ◽  
Autistic Children ◽  
Medical Visit ◽  
Developmental Abnormalities ◽  
Medical Visits ◽  
Parental Concerns ◽  
Spectrum Disorders ◽  
Detection And Diagnosis

Abstract Background: In Mali, the health facility-based prevalence of autism spectrum disorders (ASD) in Mali was 4.5% (105/2,343) and the age of first medical visit for autistic children was around 7 years old in 2018. Parental recognition of developmental abnormalities initiates the early autism detection and diagnosis. In this pilot study, our aim was to investigate if parental concerns were associated with early first medical visits and subsequent ASD diagnostic in Mali. Methods: We conducted a pilot study from November 2017 to July 2019. We surveyed 57 parents of autistic children aged 3-14 years old. Results: Parents were concerned over verbal communication in 54.1% and reciprocal social interaction in 43.8%. Children with ASD had their first medical visit after 18 months old in 66.7%, ≥ two medical visits in 87.7%, and were identified after 36 months old in 76.8%. Conclusion: Parental concerns were not significantly associated with early first medical visit and ASD identification. This pilot study will help in the design of larger studies on the same topic in Mali.

scholarly journals Gesture Anak Autis dalam Menyelesaikan Soal Matematika Materi Penjumlahan Bilangan Bulat

2019 ◽  
Vol 4 (9) ◽  
pp. 1132
Author(s):  
Rizky Nova Damayanti ◽  
Subanji Subanji ◽  
Cholis Sa’dijah
Keyword(s):  
Autism Spectrum Disorders ◽  
Autistic Child ◽  
Developmental Disorders ◽  
Mathematical Problem ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Developmental Abnormalities ◽  
Spectrum Disorders ◽  
Math Problems ◽  
Different Levels

<p class="Abstrak"><strong>Abstract:</strong> Children with autism spectrum disorders or ASD are one of the developmental disorders of the nerves that are characterized by social and communication definitions. Developmental abnormalities in the nerve will affect brain development and child communication. Therefore, when children communicate, a gesture will emerge as a sign the child is communicating to convey the message. Based on this, researchers will conduct research on child gestures that arise in solving math problems. Gesture that appears will be recorded using a camera so that it will be known what gesture appears in the child. The study was conducted on two moderate autistic children with different levels but the same material. This study resulted in the gesture of an autistic child appearing in solving a mathematical problem as a gesture of conformity and incompatibility. Where the suitability of the corresponding gesture shown by the child is like pointing and counting. Whereas for gesture mismatch shows the child turns to another object, calculates with different hand gestures and points but not to solve the problem.</p><strong>Abstrak:</strong> Anak dengan gangguan spektrum autisme atau ASD adalah salah satu kelainan perkembangan pada saraf yang ditandai oleh definisi sosial dan komunikasi. Kelainan perkembangan pada saraf tersebut akan memengaruhi perkembangan otak dan komunikasi anak. Oleh karena itu, ketika anak berkomunikasi, maka akan muncullah <em>gesture</em> sebagai tanda anak berkomunikasi untuk menyampaikan pesan. Berdasarkan hal tersebut peneliti akan melakukan penelitian tentang <em>gesture</em> anak yang muncul dalam menyelesaikan soal matematika. <em>Gesture </em>yang muncul akan direkam menggunakan kamera sehingga akan diketahui gesture apa yang muncul pada anak. Penelitian dilakukan pada dua anak autis sedang dengan jenjang tingkatan yang berbeda tetapi materi yang sama. Penelitian ini menghasilkan bahwa <em>gesture</em> anak autis yang muncul dalam menyelesaikan soal matematika merupakan <em>gesture</em> kesesuaian dan ketidaksesuaian. Dimana kesesuaian berisi <em>gesture</em> yang sesuai ditunjukkan anak, seperti menunjuk dan menghitung. Sementara itu, untuk ketidaksesuaian <em>gesture</em> menunjukkan anak menoleh ke objek lain, menghitung dengan <em>gesture</em> tangan yang berbeda dan menunjuk, tetapi bukan untuk menyelesaikan soal.

Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb
Keyword(s):  
Autism Spectrum Disorders ◽  
Young Children ◽  
Children With Autism ◽  
Descriptive Study ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Children With Asd ◽  
Young Children With Autism ◽  
Spectrum Disorders ◽  
Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

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