scholarly journals Mutation analysis of the NRXN1 gene in autism spectrum disorders

2016 ◽  
Vol 19 (2) ◽  
pp. 17-22 ◽  
Author(s):  
H Onay ◽  
D Kacamak ◽  
AN Kavasoglu ◽  
B Akgun ◽  
M Yalcinli ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Syndromic Autism ◽  
Spectrum Disorders ◽  
Strong Candidate ◽  
Reduced Penetrance

AbstractThe aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.

Examining frequent emergency department use among children and adolescents with autism spectrum disorder

Autism ◽  
2021 ◽  
pp. 136236132199092
Author(s):  
Judith Beverly ◽  
Theodoros Giannouchos ◽  
Timothy Callaghan
Keyword(s):  
Autism Spectrum Disorder ◽  
Emergency Department ◽  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Autism Spectrum ◽  
Emergency Department Visits ◽  
Spectrum Disorder ◽  
Emergency Department Use ◽  
Adolescents With Autism ◽  
Spectrum Disorders

We analyze the 2011–2016 Healthcare Cost and Utilization Project State Emergency Department Databases and State Inpatient Databases for all emergency department visits by children and adolescents in New York to estimate the association between autism spectrum disorder and frequent emergency department utilization. Our study included 5.9 million individuals with 9.1 million emergency department visits. Of those, 31,682 had autism spectrum disorder (0.5%) accounting for 66,053 (0.7%) emergency department visits. Individuals with autism spectrum disorder had on average 0.6 more emergency department visits per year, were more likely to exhibit frequent emergency department use (⩾4, ⩾6, ⩾8, and ⩾10 emergency department visits/year), and had larger shares of comorbidities and diagnoses related to attention-deficit/hyperactivity disorder, intellectual disability, and epilepsy. These findings highlight the need for patient and family-centered care interventions and emergency department staff education initiatives. Lay abstract This study used data for 5.9 million individuals with 9.1 million emergency department visits from all hospitals in the state of New York to explore frequent emergency department use between children and adolescents with autism spectrum disorders and those without autism spectrum disorders. We found that children and adolescents with autism spectrum disorders had larger shares of comorbidities and diagnoses related to attention-deficit/hyperactivity disorder, intellectual disability, and epilepsy. Children and adolescents with autism spectrum disorders were also more likely to utilize emergency departments and to exhibit frequent use. These results emphasize the need for using family-centered care to improve the care experiences of children and youth with autism spectrum disorders and their families. In addition, the education of emergency department staff of processes and practices as it relates to delivery of care and the care experience.

scholarly journals Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Autism ◽  
2021 ◽  
pp. 136236132110195
Author(s):  
Martina Arenella ◽  
Gemma Cadby ◽  
Ward De Witte ◽  
Rachel M Jones ◽  
Andrew JO Whitehouse ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Genetic Research ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide ◽  
Spectrum Disorders ◽  
Immune Related Genes ◽  
Attention To Detail

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our understanding of autism spectrum disorders. We meta-analysed four population-based genome-wide association studies investigating four autistic-like traits – ‘attention-to-detail’, ‘imagination’, ‘rigidity’ and ‘social-skills’ ( n = 4600). Using autism spectrum disorder summary statistics from the Psychiatric Genomic Consortium ( N = 46,350), we applied polygenic risk score analyses to understand the genetic relationship between autism spectrum disorders and autistic-like traits. Using MAGMA, we performed gene-based and gene co-expression network analyses to delineate involved genes and pathways. We identified two novel genome-wide significant loci – rs6125844 and rs3731197 – associated with ‘attention-to-detail’. We demonstrated shared genetic aetiology between autism spectrum disorders and ‘rigidity’. Analysing top variants and genes, we demonstrated a role of the immune-related genes RNF114, CDKN2A, KAZN, SPATA2 and ZNF816A in autistic-like traits. Brain-based genetic expression analyses further linked autistic-like traits to genes involved in immune functioning, and neuronal and synaptic signalling. Overall, our findings highlight the potential of the autistic-like trait–based approach to address the challenges of genetic research in autism spectrum disorders. We provide novel insights showing a potential role of the immune system in specific autism spectrum disorder dimensions. Lay abstract Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. Therefore, we meta-analysed data from four different population cohorts in which autistic-like traits were measured. We performed a set of genetic analyses to identify common variants for autistic-like traits, understand how these variants related to autism spectrum disorders, and how they contribute to neurobiological processes. Our results showed genetic associations with specific autistic-like traits and a link to the immune system. We offer an example of the potential to use a dimensional approach when dealing with heterogeneous, complex disorder like autism spectrum disorder. Decomposing the complex autism spectrum disorder phenotype in its core features can inform on the specific biology of these features which is likely to account to clinical variability in patients.

scholarly journals Folic Acid and Autism: A Systematic Review of the Current State of Knowledge

Cells ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 1976
Author(s):  
Bianka Hoxha ◽  
Malvina Hoxha ◽  
Elisa Domi ◽  
Jacopo Gervasoni ◽  
Silvia Persichilli ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Folic Acid ◽  
Autism Spectrum ◽  
Tissue Growth ◽  
Spectrum Disorder ◽  
Mthfr Polymorphisms ◽  
Spectrum Disorders

Folic acid has been identified to be integral in rapid tissue growth and cell division during fetal development. Different studies indicate folic acid’s importance in improving childhood behavioral outcomes and underline its role as a modifiable risk factor for autism spectrum disorders. The aim of this systematic review is to both elucidate the potential role of folic acid in autism spectrum disorders and to investigate the mechanisms involved. Studies have pointed out a potential beneficial effect of prenatal folic acid maternal supplementation (600 µg) on the risk of autism spectrum disorder onset, but opposite results have been reported as well. Folic acid and/or folinic acid supplementation in autism spectrum disorder diagnosed children has led to improvements, both in some neurologic and behavioral symptoms and in the concentration of one-carbon metabolites. Several authors report an increased frequency of serum auto-antibodies against folate receptor alpha (FRAA) in autism spectrum disorder children. Furthermore, methylene tetrahydrofolate reductase (MTHFR) polymorphisms showed a significant influence on ASD risk. More clinical trials, with a clear study design, with larger sample sizes and longer observation periods are necessary to be carried out to better evaluate the potential protective role of folic acid in autism spectrum disorder risk.

scholarly journals Sex-related patterns of intrinsic functional connectivity in children and adolescents with autism spectrum disorders

Autism ◽  
2020 ◽  
Vol 24 (8) ◽  
pp. 2190-2201 ◽  
Author(s):  
Lindsay A Olson ◽  
Lisa E Mash ◽  
Annika Linke ◽  
Christopher H Fong ◽  
Ralph-Axel Müller ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Functional Connectivity ◽  
Children And Adolescents ◽  
Resting State ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typically Developing ◽  
Adolescents With Autism ◽  
Spectrum Disorders

Although a growing literature highlights sex differences in autism spectrum disorder clinical presentation, less is known about female variants at the neural level. We investigated sex-related patterns of functional connectivity within and between functional networks in children and adolescents with autism spectrum disorders, compared to typically developing peers. Resting-state functional magnetic resonance imaging data for 141 children and adolescents (7–17 years) selected from an in-house sample and four sites contributing to the Autism Brain Imaging Database Exchange (ABIDE I and II) were submitted to group independent component analysis to generate resting-state functional networks. Functional connectivity was estimated by generating resting-state functional network correlation matrices, which were directly compared between males and females, and autism spectrum disorder and typically developing groups. Results revealed greater connectivity within the default mode network in typically developing girls as compared to typically developing boys, while no such sex effect was observed in the autism spectrum disorder group. Correlational analyses with clinical indices revealed a negative relationship between sensorimotor connectivity and history of early autism symptoms in girls, but not in boys with autism spectrum disorder. A lack of neurotypical sex differentiation in default mode network functional connectivity observed in boys and girls with autism spectrum disorder suggests that sex-related differences in network integration may be altered in autism spectrum disorder. Lay summary We investigated whether children and adolescents with autism spectrum disorders show sex-specific patterns of brain function (using functional magnetic resonance imaging) that are well documented in typically developing males and females. We found, unexpectedly, that boys and girls with autism do not differ in their brain functional connectivity, whereas typically developing boys and girls showed differences in a brain network involved in thinking about self and others (the default mode network). Results suggest that autism may be characterized by a lack of brain sex differentiation.

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