Additive interaction between birth asphyxia and febrile seizures on autism spectrum disorder: a population-based study
ConclusionIn this extensive cross-sectional study, both BA and FS were significantly linked to ASD. The coexistence of these factors was associated with an additive increase in ASD prevalence, surpassing the cumulative risk of each individual factor. (Source: Molecular Autism)
Source: Molecular Autism - April 10, 2024 Category: Molecular Biology Source Type: research

Systematic review and meta-analysis: multimodal functional and anatomical neural alterations in autism spectrum disorder
ConclusionsThe present multimodal meta-analysis demonstrated that ASD exhibited similar alterations in both function and structure of the insula and ACC/mPFC, and functional or structural alterations in the default mode network (DMN), primary motor and sensory regions. These findings contribute to further understanding of the pathophysiology of ASD. (Source: Molecular Autism)
Source: Molecular Autism - April 4, 2024 Category: Molecular Biology Source Type: research

Neuroligin-2 shapes individual slow waves during slow-wave sleep and the response to sleep deprivation in mice
ConclusionsThis work brings further insight into potential mechanisms of sleep duration and quality deregulation in neurodevelopmental disorders, notably involving NLGN2 and GABAergic neurotransmission. (Source: Molecular Autism)
Source: Molecular Autism - April 3, 2024 Category: Molecular Biology Source Type: research

Shank3 deficiency elicits autistic-like behaviors by activating p38 α in hypothalamic AgRP neurons
ConclusionsThese results demonstrate that theShank3 deficiency caused autistic-like behaviors by activating p38 α signaling in AgRP neurons, suggesting that p38α signaling in AgRP neurons is a potential therapeutic target forShank3 mutant-related autism. (Source: Molecular Autism)
Source: Molecular Autism - April 3, 2024 Category: Molecular Biology Source Type: research

Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder
ConclusionSome ADOS items may better capture the signs that are most associated with clinicians ’ implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments. (Source: Molecular Autism)
Source: Molecular Autism - April 3, 2024 Category: Molecular Biology Source Type: research

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach
ConclusionsHere we show that a combination of structure-based computational predictions and experimental validation can be employed to reliably predict whether missense mutations in the humanTRIO gene impede TRIO protein function and compromise TRIO ’s role in glutamatergic synapse regulation. With the growing accessibility of genome sequencing, the use of such tools in the accurate identification of pathological mutations will be instrumental in diagnostics of ASD/ID. (Source: Molecular Autism)
Source: Molecular Autism - April 3, 2024 Category: Molecular Biology Source Type: research

Fetal brain growth and infant autistic traits
ConclusionPrenatal brain growth is associated with toddler autistic traits and this can be ascertained via ultrasound starting at 20  weeks gestation. (Source: Molecular Autism)
Source: Molecular Autism - February 28, 2024 Category: Molecular Biology Source Type: research

Granulocyte macrophage colony-stimulating factor-induced macrophages of individuals with autism spectrum disorder adversely affect neuronal dendrites through the secretion of pro-inflammatory cytokines
ConclusionsOur co-culture system revealed the non-cell autonomous adverse effects of GM-CSF M Φ in individuals with ASD on neurons, mediated by interleukin-1α and TNF-α. These results may support the immune dysfunction hypothesis of ASD, providing new insights into its pathology. (Source: Molecular Autism)
Source: Molecular Autism - February 21, 2024 Category: Molecular Biology Source Type: research

Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs
ConclusionsOur study demonstrated the feasibility of using canine brain slices as a model system to study neuronal circuitry and disease.Shank3 haploinsufficiency causes morphological and functional abnormalities in PFC pyramidal neurons, supporting the notion thatShank3 mutant dogs are new and valid animal models for autism research. (Source: Molecular Autism)
Source: Molecular Autism - January 31, 2024 Category: Molecular Biology Source Type: research

Naturally occurring low sociality in female rhesus monkeys: A tractable model for autism or not?
ConclusionsDominance rank is the most significant predictor of autistic-like traits in female rhesus monkeys, and CSF neuropeptide concentrations are unrelated to measures of female social functioning (in contrast to prior CSF AVP findings in male rhesus monkeys and male and female autistic children). Although preliminary, this evidence suggests that the strong matrilineal organization of this species may limit the usefulness of low sociality in female rhesus monkeys as a tractable model for ASD. (Source: Molecular Autism)
Source: Molecular Autism - January 31, 2024 Category: Molecular Biology Source Type: research

Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder
ConclusionsThese new findings demonstrate that cortico-basal ganglia white matter microstructure is altered in ASD and linked to RRB. FW in cortico-basal ganglia and intra-basal ganglia white matter was more sensitive to group differences in ASD, whereas cortico-basal ganglia FAT was more closely linked to RRB. In contrast, basal ganglia and cerebellar volumes did not differ in ASD. There was no interaction between ASD diagnosis and sex-related differences in brain structure. Future diffusion imaging investigations in ASD may benefit from free-water estimation and correction in order to better understand how white matter i...
Source: Molecular Autism - January 23, 2024 Category: Molecular Biology Source Type: research

Pharmacological and non-pharmacological interventions for irritability in autism spectrum disorder: a systematic review and meta-analysis with the GRADE assessment
ConclusionsOnly risperidone, aripiprazole among pharmacological interventions, and parent training among non-pharmacological interventions can be recommended for irritability in ASD. As an augmentation to risperidone, several novel treatments show promising effects, but further RCTs are needed to replicate findings.Trial registration PROSPERO, CRD42021243965. (Source: Molecular Autism)
Source: Molecular Autism - January 23, 2024 Category: Molecular Biology Source Type: research

Clinical impact and in vitro characterization of ADNP variants in pediatric patients
ConclusionsOur study reported the first cohort of HVDAS patients in the Chinese population and provided systematic clinical presentations and laboratory examinations. Furthermore, we identified multiple genetic variants and validated them in vitro. Our findings offered valuable insights into the diverse genetic variants associated with HVDAS. (Source: Molecular Autism)
Source: Molecular Autism - January 22, 2024 Category: Molecular Biology Source Type: research

The search for gastrointestinal inflammation in autism: a systematic review and meta-analysis of non-invasive gastrointestinal markers
ConclusionsThere is no evidence to suggest higher levels of gastrointestinal inflammation as measured by calprotectin and lactoferrin are present in autistic children  and adolescents at the population level. Preliminary evidence suggests however that higher calprotectin levels may be present in a subset of autistic participants, who may be clinically characterised by more severe gastrointestinal symptoms and higher levels of autistic traits. (Source: Molecular Autism)
Source: Molecular Autism - January 17, 2024 Category: Molecular Biology Source Type: research

Gray matter covariations in autism: out-of-sample replication using the ENIGMA autism cohort
ConclusionsThe current study is unable to fully replicate the autism-related brain patterns from LEAP in the ENIGMA cohort. The diverse group effects across ENIGMA sites demonstrate the challenges of generalizing the average findings of the GM covariation patterns to a large-scale cohort integrated retrospectively from multiple studies. Further analyses need to be conducted to gain additional insights into the generalizability of these two GM covariation patterns. (Source: Molecular Autism)
Source: Molecular Autism - January 17, 2024 Category: Molecular Biology Source Type: research