Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review

Huang, Min; Qi, Qi; Xu, Tan

doi:10.3389/fnmol.2023.1128974

Cited by 3 publications

(2 citation statements)

References 198 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Rare inherited and de novo mutations in the SHANK3 gene have been reported for some time in animal and human studies, with associated impacts including alterations to synaptic maturation and function, disrupted neural communication, 'abnormal' brain development, and impaired cognitive and behavioural functioning (e.g. Boccuto et al, 2013;Huang et al, 2023;Uchino & Waga, 2013). As examples of how the SHANK3 mutation may influence ASD features, Guo et al (2019) found structural and functional alterations in the glutamatergic synapses of the pyramidal neurones in the anterior cingulate cortex in mice with a SHANK3 mutation and noted that this was linked to disrupted social behaviour.…”

Section: Synaptic Functioningmentioning

confidence: 99%

Neurobiological Concomitants of Autism as Informers of Clinical Practice: a Status Review

Bitsika

Sharpley

2023

Adv Neurodev Disord

View full text Add to dashboard Cite

Objectives Although a great deal of research is conducted into the neurobiological correlates of autism, there has been no recent overview of the findings from this research in terms of how they translate to clinical practice. To provide an overview of recent literature in the fields of head size, brain volume, brain region, connectivity between brain regions, and synaptic function, as they apply to autism, with a view to informing clinical practice. Methods Major empirical and review papers on these topics from the last 30 years were identified via a search of PubMed, Google Scholar, and PsychInfo, using the descriptors ‘autism’, ‘head size’, ‘brain volume’, ‘brain region’, ‘connectivity between brain regions’, and ‘synaptic function’. To distil the key findings relevant to clinical practice, both authors conducted blind reviews, producing a set of ‘key’ papers for this purpose. Results Each field produced a number of major findings, which were then described and discussed, and translated into a table of ‘Findings’, ‘Diagnostic suggestions’ (for the clinician’s protocols), and ‘Clinical actions’ (suggestions for interactions with carers of autistic children and adults). Conclusions The stability of the research within each field varies, with some clear findings and others that are yet to be consistently verified. Despite this, some specific clinical implications for diagnosis and treatment (particularly clinician-carer interactions) are described.

show abstract

Section: Synaptic Functioningmentioning

confidence: 99%

Neurobiological Concomitants of Autism as Informers of Clinical Practice: a Status Review

Bitsika

Sharpley

2023

Adv Neurodev Disord

View full text Add to dashboard Cite

show abstract

“…Over the past decade, research about the genetic correlates of ASD has witnessed remarkable advancements, progressing from monoclonal gene studies to contemporary large-scale investigations employing whole-genome sequencing (WGS) ( 8 ). Numerous highly reliable and reproducible risk genes have been identified, including Shank3 ( 9 ), Cntnap2 ( 10 ), and Nlgn3 ( 11 ), among others. These genes are associated with neuronal connectivity, synaptic function, and neurodevelopment.…”

Section: Introductionmentioning

confidence: 99%

A bibliometric analysis of autism spectrum disorder signaling pathways research in the past decade

Lyu,

Li,

Chen

et al. 2024

Front. Psychiatry

View full text Add to dashboard Cite

BackgroundThis study employs bibliometric methods to comprehensively understand the fundamental structure of research about Autism Spectrum Disorder (ASD) Signaling Pathways by examining key indicators such as nations, institutions, journals, authors, and keywords.MethodologyWe utilized the WoScc database to retrieve literature relevant to ASD Signaling Pathways published between 2013 and 2023. Through visual analysis and tools like CiteSpace and VosViewer, we explored nations, institutions, journals, authors, and keywords, thereby constructing relevant networks.Results26 The study encompasses 1,396 articles, revealing a consistent increase in publications. The United States, China, and Germany are leading nations in this literature. Regarding research institutions, the University of California system and Eric Klann have garnered significant attention due to their substantial contributions to the field of ASD Signaling Pathways. Most relevant research is published in the journal “Molecular Autism.” Research interests are concentrated across various themes, including “elevating neuronal β-catenin levels,” “Tunisian children,” “Fmr1 knockout (KO) mice,” “de novo mutations,” “autistic children,” “local translation,” “propionic acid-induced mouse models,” “neurosystems,” “glucose metabolism,” and “neuronal migration.” Future research may emphasize exploring aspects such as gut microbiota, genes, stress, maternal immune activation, memory, and neurodevelopmental disorders of ASD.ConclusionThis study, through bibliometric analysis of key indicators such as nations, institutions, journals, authors, and keywords, provides a comprehensive overview of the current state of research on ASD Signaling Pathways. These investigations predominantly focus on molecular mechanisms, animal model studies, population-based research, and the structure and function of neurosystems. Future research directions are also clearly proposed. First, in-depth research on the genes and neurodevelopmental disorders associated with ASD will continue to reveal the genetic basis and provide support for precise treatments. At the same time, attention to the gut microbiota will help explore its association with ASD, which may provide clues for new treatments. In addition, the relationship between stress and ASD will become the focus of research to understand better the emotional and behavioral characteristics of ASD patients in stressful situations. Maternal immune activation will also be further studied to explore how environmental factors influence the risk and development of ASD. Finally, a deeper understanding of the cognitive functions of patients with ASD, especially memory and learning, will help develop individualized treatment strategies to improve patients’ quality of life. These directions will work together and are expected to provide a more comprehensive understanding of Signaling Pathways research in ASD and provide new ideas and opportunities for future intervention and treatment.

show abstract

Decoding the genetic landscape of autism: A comprehensive review

Al-Beltagi,

Saeed,

Bediwy

et al. 2024

World J Clin Pediatr

View full text Add to dashboard Cite

BACKGROUND Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis and therapeutic strategies. AIM To explore the genetic architecture of ASD, elucidate mechanistic insights into genetic mutations, and examine gene-environment interactions. METHODS A comprehensive systematic review was conducted, integrating findings from studies on genetic variations, epigenetic mechanisms (such as DNA methylation and histone modifications), and emerging technologies [including Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 and single-cell RNA sequencing]. Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar. RESULTS Genetic studies have identified numerous risk genes and mutations associated with ASD, yet many cases remain unexplained by known factors, suggesting undiscovered genetic components. Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving. Epigenetic modifications, particularly DNA methylation and non-coding RNAs, also play significant roles in ASD pathogenesis. Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data. CONCLUSION Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments. Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice. Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies, ultimately enhancing outcomes for individuals affected by ASD.

show abstract

Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review

Cited by 3 publications

References 198 publications

Neurobiological Concomitants of Autism as Informers of Clinical Practice: a Status Review

Neurobiological Concomitants of Autism as Informers of Clinical Practice: a Status Review

A bibliometric analysis of autism spectrum disorder signaling pathways research in the past decade

Decoding the genetic landscape of autism: A comprehensive review

Contact Info

Product

Resources

About