Autisms

Persico, Antonio M.; Cucinotta, Francesca; Ricciardello, Arianna; Turriziani, Laura

doi:10.1016/b978-0-12-814409-1.00003-3

Cited by 16 publications

(13 citation statements)

References 297 publications

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“…Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental disorders (the “autisms”) characterized by impairment in social interaction and communication, including deficits in social reciprocity, accompanied by restricted interests, repetitive patterns of behavior, and abnormal sensory processing (American Psychiatric Association, 1994 ; Persico et al, 2020 ). Its prevalence rates range from 1/54 children and 1/45 adults in the United States (Dietz et al, 2020 ; Maenner et al, 2020 ), to 1/87 children in Italy and 1/102 adults in England (Brugha et al, 2011 ; Narzisi et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

“…ASD has strong genetic underpinnings. Familial recurrence rates are approximately 15%–25% for male and 5%–15% for female offspring (Ozonoff et al, 2011 ; Persico et al, 2020 ), much higher than population rates (Brugha et al, 2011 ; Dietz et al, 2020 ; Maenner et al, 2020 ; Narzisi et al, 2018 ). Twin studies have revealed that heritability can range from 38% to 90%, with approximately 50% as the most likely estimate (Huguet et al, 2016 ).…”

Section: Introductionmentioning

confidence: 99%

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Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

Chehbani

Tomaiuolo²,

Picinelli³

et al. 2022

Molec Gen & Gen Med

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Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic underpinnings. Microarray‐based comparative genomic hybridization (aCGH) technology has been proposed as a first‐level test in the genetic diagnosis of ASD and of neurodevelopmental disorders in general. Methods We performed aCGH on 98 Tunisian children (83 boys and 15 girls) diagnosed with ASD according to DSM‐IV criteria. Results “Pathogenic” or “likely pathogenic” copy number variants (CNVs) were detected in 11 (11.2%) patients, CNVs of “uncertain clinical significance” in 26 (26.5%), “likely benign” or “benign” CNVs were found in 37 (37.8%) and 24 (24.5%) patients, respectively. Gene set enrichment analysis involving genes spanning rare “pathogenic,” “likely pathogenic,” or “uncertain clinical significance” CNVs, as well as SFARI database “autism genes” in common CNVs, detected eight neuronal Gene Ontology classes among the top 10 most significant, including synapse, neuron differentiation, synaptic signaling, neurogenesis, and others. Similar results were obtained performing g: Profiler analysis. Neither transcriptional regulation nor immune pathways reached significance. Conclusions aCGH confirms its sizable diagnostic yield in a novel sample of autistic children from North Africa. Recruitment of additional families is under way, to verify whether genetic contributions to ASD in the Tunisian population, differently from other ethnic groups, may involve primarily neuronal genes, more than transcriptional regulation and immune‐related pathways.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

Chehbani

Tomaiuolo²,

Picinelli³

et al. 2022

Molec Gen & Gen Med

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“…The separation of the offspring from their mother and familiar littermates, the physical handling and transport, comingling of unfamiliar individuals, new surroundings, and new feeding strategies can all contribute to the stress experienced by weaned rodents and pigs ( Curley et al 2009 ; Campbell et al 2013 ). This event is accompanied by hormonal and immunological changes ( Pie et al 2004 ; Gimsa et al 2018 ). Marked increases in plasma lymphocytic trapping and cortisol level were detected in pigs one day after weaning ( Kick et al 2012 ).…”

Section: Introductionmentioning

confidence: 99%

Interacting impact of maternal inflammatory response and stress on the amygdala transcriptome of pigs

Keever-Keigher

Zhang

Bolt

et al. 2021

G3 Genes|Genomes|Genetics

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Changes at the molecular level capacitate the plasticity displayed by the brain in response to stress stimuli. Weaning stress can trigger molecular changes that influence the physiology of the offspring. Likewise, maternal immune activation (MIA) during gestation has been associated with behavior disorders and molecular changes in the amygdala of the offspring. This study advances the understanding of the effects of pre-and postnatal stressors in amygdala gene networks. The amygdala transcriptome was profiled on female and male pigs that were either exposed to viral-elicited MIA or not and were weaned or nursed. Overall, 111 genes presented interacting or independent effects of weaning, MIA or sex (FDR-adjusted P-value < 0.05). PIGY upstream reading frame (PYURF) and orthodenticle homeobox 2 (OTX2) are genes associated with MIA-related neurological disorders, and presented significant under-expression in weaned relative to nursed pigs exposed to MIA, with an opposite pattern was observed in non-MIA pigs. Enriched among the genes presenting highly over- or under-expression profiles were 24 KEGG pathways including inflammation, and neurological disorders. Our results indicate that MIA and sex can modulate the effect of weaning stress on the molecular mechanisms in the developing brain. Our findings can help identify molecular targets to ameliorate the effects of pre-and postnatal stressors on behaviors regulated by the amygdala such as aggression and feeding.

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“…Although research on early and comprehensive behavioral interventions, such as EIBI and ESDM, has shown that children can achieve optimal outcomes, studies have found great interindividual variability in rate and extent of clinical improvement, with some children showing larger gains and others only small progress (e.g., [ 25 , 26 , 27 , 28 ]). This variability is not surprising, given the great heterogeneity in etiopathogenetic underpinnings, developmental trajectories, symptom patterns and severity present in the “Autisms”, term used by many investigators to comprehensively refer to ASD as a heterogeneous collection of rare disorders sharing the clinical features defined as “diagnostic criteria” in DSM-5 [ 29 ]. Within this framework, researchers have attempted to identify factors that may be associated with more favorable spontaneous developmental trajectories in children at risk or initially diagnosed with ASD.…”

Section: Introductionmentioning

confidence: 99%

Differential Predictors of Response to Early Start Denver Model vs. Early Intensive Behavioral Intervention in Young Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis

Asta

Persico

2022

Brain Sciences

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The effectiveness of early intensive interventions for Autism Spectrum Disorder (ASD) is now well-established, but there continues to be great interindividual variability in treatment response. The purpose of this systematic review is to identify putative predictors of response to two different approaches in behavioral treatment: Early Intensive Behavioral Interventions (EIBI) and the Early Start Denver Model (ESDM). Both are based upon the foundations of Applied Behavioral Analysis (ABA), but the former is more structured and therapist-driven, while the latter is more naturalistic and child-driven. Four databases (EmBase, PubMed, Scopus and WebOfScience) were systematically screened, and an additional search was conducted in the reference lists of relevant articles. Studies were selected if participants were children with ASD aged 12–48 months at intake, receiving either EIBI or ESDM treatment. For each putative predictor, p-values from different studies were combined using Fisher’s method. Thirteen studies reporting on EIBI and eleven on ESDM met the inclusion criteria. A higher IQ at intake represents the strongest predictor of positive response to EIBI, while a set of social cognitive skills, including intention to communicate, receptive and expressive language, and attention to faces, most consistently predict response to ESDM. Although more research will be necessary to reach definitive conclusions, these findings begin to shed some light on patient characteristics that are predictive of preferential response to EIBI and ESDM, and may provide clinically useful information to begin personalizing treatment.

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Autisms

Cited by 16 publications

References 297 publications

Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

Interacting impact of maternal inflammatory response and stress on the amygdala transcriptome of pigs

Differential Predictors of Response to Early Start Denver Model vs. Early Intensive Behavioral Intervention in Young Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis

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