Dev Neurosci. 2024 Apr 26. doi: 10.1159/000538932. Online ahead of print.

ABSTRACT

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits, cognitive dysfunction, and stereotyped repetitive behaviors. Regional volume changes are commonly observed in individuals with ASD. To examine volumetric dysregulation across adolescence, the valproic acid (VPA) model was used to induce ASD-like phenotypes in rats. Regional volumes were obtained via magnetic resonance imaging (MRI) at either postnatal day 28 (P28) or postnatal day 40 (P40), which correspond to early and late adolescence, respectively. Consistent with prior research, VPA animals had reduced total brain volume compared to control animals. A novel outcome was that VPA animals had overgrown right hippocampi at P40. Differences in the pattern of development of the anterior cingulate cortex were also observed in VPA animals. Differences for the posterior cingulate were only observed in males but not females. These results demonstrate differences in region-specific developmental trajectories between control and VPA animals and suggest that the VPA model may capture regional volume changes consistent with human ASD.

PMID:38679020 | DOI:10.1159/000538932

Comput Methods Programs Biomed. 2024 Apr 24;250:108196. doi: 10.1016/j.cmpb.2024.108196. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVE: People with autism spectrum disorder (ASD) often have cognitive impairments. Effective connectivity between different areas of the brain is essential for normal cognition. Electroencephalography (EEG) has been widely used in the detection of neurological diseases. Previous studies on detecting ASD with EEG data have focused on frequency-related features. Most of these studies have augmented data by splitting the dataset into time slices or sliding windows. However, such approaches to data augmentation may cause the testing data to be contaminated by the training data. To solve this problem, this study developed a novel method for detecting ASD with EEG data.

METHODS: This study quantified the functional connectivity of the subject's brain from EEG signals and defined the individual to be the unit of analysis. Publicly available EEG data were gathered from 97 and 92 subjects with ASD and typical development (TD), respectively, while they were at rest or performing a task. Time-series maps of brain functional connectivity were constructed, and the data were augmented using a deep convolutional generative adversarial network. In addition, a combined network for ASD detection, based on convolutional neural network (CNN) and long short-term memory (LSTM), was designed and implemented.

RESULTS: Based on functional connectivity, the network achieved classification accuracies of 81.08% and 74.55% on resting state and task state data, respectively. In addition, we found that the functional connectivity of ASD differed from TD primarily in the short-distance functional connectivity of the parietal and occipital lobes and in the distant connections from the right temporoparietal junction region to the left posterior temporal lobe.

CONCLUSIONS: This paper provides a new perspective for better utilizing EEG to understand ASD. The method proposed in our study is expected to be a reliable tool to assist in the diagnosis of ASD.

PMID:38678958 | DOI:10.1016/j.cmpb.2024.108196

Res Dev Disabil. 2024 Apr 27;149:104742. doi: 10.1016/j.ridd.2024.104742. Online ahead of print.

ABSTRACT

BACKGROUND: Autistic features and sensory processing difficulties and their phenotypic co-expression with alexithymia share a transdiagnostic vulnerability. In this work, we explored whether the current concept of broad autism phenotype rather translates altered sensory processing (non-specific to autism), meaning that the characteristics of altered sensory processing should be overexpressed among individuals with heightened vulnerability to sensory processing atypicalities (parents of children with sensorial processing disorder, or SPD parents) and individuals with heightened vulnerability to autistic traits (parents of children with autism spectrum disorders, or ASD parents). In addition, the association between altered sensory processing and alexithymia was inspected.

METHOD: The Adolescent/Adult Sensory Profile, Autism Spectrum Quotient, and Toronto Alexithymia Scale were completed by 31 parents of children with ASD, 32 parents of children with SPD, and 52 parents of typically developed (TD) children.

RESULTS: Extreme sensory patterns were overexpressed both in parents of children with SPD and parents of children with ASD when compared to parents of TD children. In addition, extreme sensory patterns were significantly associated with alexithymia scores. Specifically, sensory avoidance, low registration, and sensory sensitivity were positively correlated with alexithymia. No significant differences were found regarding the proportion of autistic traits and alexithymia between ASD and SPD groups of parents.

CONCLUSIONS: These results challenge the specificity of broad autism phenotype and suggest a neurodevelopmental atypicity with roots in altered sensory and emotional processing.

PMID:38678875 | DOI:10.1016/j.ridd.2024.104742

Infant Behav Dev. 2024 Apr 27;76:101952. doi: 10.1016/j.infbeh.2024.101952. Online ahead of print.

ABSTRACT

Despite important advancements into the early detection of autism, there are still few empirically supported interventions for children under the age of two years who are showing early signs. Caregiver-mediated interventions have gained in popularity as a method for delivering support to the child and family. The current study builds on current work by enrolling a comparatively large cohort of infants (ages 12-22 months of age) displaying early signs of autism into a randomized controlled intervention program. Infants and parents received a group-based program using a standard early childhood curriculum. In addition, all families were randomly assigned to receive parent training in the form of either parent-mediated Joint Attention Symbolic Play Engagement and Regulation (JASPER) training or psychoeducation. Infants in both classrooms made substantial gains in social-communication, play, and cognition during a brief, 8-week period. All infants gained over an average of 10 points in DQ and increased in standardized measures of social-communication and play, with these gains maintaining at a 2-month follow-up visit. The classroom that also received JASPER increased in child initiated joint engagement and play level during dyadic interactions with their parents, while the classroom that received psychoeducation increased in joint attention during a standardized assessment delivered by an independent assessor. Infant familial risk for autism (older sibling with autism) also moderated the effect of treatment on child initiated joint engagement where infants in the JASPER classroom without familial risk made the most gains from baseline to exit of the program. This study highlights the promise of intervening at the earliest stages to promote positive outcomes for children and families.

PMID:38678861 | DOI:10.1016/j.infbeh.2024.101952

Psychiatry Res Neuroimaging. 2024 Apr 19;341:111822. doi: 10.1016/j.pscychresns.2024.111822. Online ahead of print.

ABSTRACT

Intelligent predictive models for autistic symptoms based on neuroimaging datasets were beneficial for the precise intervention of patients with ASD. The goals of this study were twofold: investigating predictive models for autistic symptoms and discovering the brain connectivity patterns for ASD-related behaviors. To achieve these goals, we obtained a cohort of patients with ASD from the ABIDE project. The autistic symptoms were measured using the Autism Diagnostic Observation Schedule (ADOS). The anatomical MRI datasets were preprocessed using the Freesurfer package, resulting in regional morphological features. For each individual, the interregional morphological network was constructed using a novel feature distance-based method. The predictive models for autistic symptoms were built using the support vector regression (SVR) algorithm with feature selection method. The predicted autistic symptoms (i.e., ADOS social score, ADOS behavior) were significantly correlated to the original measures. The most predictive features for ADOS social scores were located in the bilateral fusiform. The most predictive features for ADOS behavior scores were located in the temporal pole and the lingual gyrus. In summary, the autistic symptoms could be predicted using the interregional morphological connectivity and machine learning. The interregional morphological connectivity could be a potential biomarker for autistic symptoms.

PMID:38678667 | DOI:10.1016/j.pscychresns.2024.111822

J Autism Dev Disord. 2024 Apr 28. doi: 10.1007/s10803-024-06366-7. Online ahead of print.

ABSTRACT

PURPOSE: The PEDI-CAT (ASD) is used to assess functioning of children and youth on the autism spectrum; however, current psychometric evidence is limited. This study aimed to explore the reliability, validity and acceptability of the PEDI-CAT (ASD) using a large Australian sample.

METHODS: Caregivers of 134 children and youth on the spectrum participated in clinical assessments involving the administration of the PEDI-CAT (ASD), Vineland-3, PEDI-CAT (Original) and a feedback instrument. The PEDI-CAT (ASD) content was compared to the ICF Core Sets for ASD to summarize areas of functioning assessed and relevance to autism.

RESULTS: The PEDI-CAT (ASD) demonstrated good to excellent internal consistency and test-re-test reliability. Parallel forms reliability with the PEDI-CAT (Original) included significant correlations (good to excellent), however, t-tests showed significantly higher Social/Cognitive scores for the ASD version. Convergent validity results demonstrated that most PEDI-CAT (ASD) and Vineland-3 core domains were significantly correlated (poor to good). Content analysis revealed that the PEDI-CAT (ASD) covered less than half of the ICF Core Sets for ASD (mostly Activities and Participation codes). Just over half the codes assigned to the PEDI-CAT (ASD) were represented in the ICF Core Sets for ASD. Feedback on the acceptability of the measure was mixed, but overall was it was considered user-friendly and efficient.

CONCLUSION: The PEDI-CAT (ASD) had adequate psychometric properties and acceptability as a measure of Activities and Participation codes. However, it lacks comprehensiveness and relevance when compared to the ICF Core Sets for ASD and has the potential to overestimate functioning.

PMID:38678516 | DOI:10.1007/s10803-024-06366-7

J Autism Dev Disord. 2024 Apr 28. doi: 10.1007/s10803-024-06360-z. Online ahead of print.

ABSTRACT

PURPOSE: The study aimed to compare eye tracking (ET) and manual coding (MC) measures of attention to social and nonsocial information in infants with elevated familial likelihood (EL) of autism spectrum disorder (ASD) and low likelihood of ASD (LL). ET provides a temporally and spatially sensitive tool for measuring gaze allocation. Existing evidence suggests that ET is a promising tool for detecting distinct social attention patterns that may serve as a biomarker for ASD. However, ET is prone to data loss, especially in young EL infants.

METHODS: To increase evidence for ET as a viable tool for capturing atypical social attention in EL infants, the current prospective, longitudinal study obtained ET and MC measures of social and nonsocial attention in 25 EL and 47 LL infants at several time points between 3 and 24 months of age.

RESULTS: ET data was obtained with a satisfactory success rate of 95.83%, albeit with a higher degree of data loss compared to MC. Infant age and ASD likelihood status did not impact the extent of ET or MC data loss. There was a significant positive association between the ET and MC measures of attention, and separate analyses of attention using ET and AC measures yielded comparable findings. These analyses indicated group differences (EL vs. LL) in age-related change in attention to social vs. nonsocial information.

CONCLUSION: Together, the findings support infant ET as a promising approach for identifying very early markers associated with ASD likelihood.

PMID:38678515 | DOI:10.1007/s10803-024-06360-z

Am J Clin Nutr. 2024 Apr 25:S0002-9165(24)00443-X. doi: 10.1016/j.ajcnut.2024.04.020. Online ahead of print.

ABSTRACT

Food and nutrition-related factors have the potential to impact development of autism spectrum disorder (ASD) and quality of life for people with ASD, but gaps in evidence exist. On November 10, 2022, Tufts University's Friedman School of Nutrition Science and Policy and Food and Nutrition Innovation Institute hosted a one-day meeting to explore the evidence and evidence gaps regarding the relationships of food and nutrition with ASD. This meeting report summarizes the presentations and deliberations from the meeting. Topics addressed included prenatal and child dietary intake, the microbiome, obesity, food-related environmental exposures, mechanisms and biological processes linking these factors and ASD, food-related social factors, and data sources for future research. Presentations highlighted evidence for protective associations with prenatal folic acid supplementation and ASD development, increases in risk of ASD with maternal gestational obesity, and the potential for exposure to environmental contaminants in foods and food packaging to influence ASD development. The importance of the maternal and child microbiome in ASD development or ASD-related behaviors in the child was reviewed, as was the role of discrimination in leading to disparities in environmental exposures and psychosocial factors that may influence ASD. The role of child diet and high prevalence of food selectivity in children with ASD and its association with adverse outcomes were also discussed. Priority evidence gaps identified by participants include further clarifying ASD development, including biomarkers and key mechanisms; interactions among psychosocial, social, and biological determinants; interventions addressing diet, supplementation, and the microbiome to prevent and improve quality of life for people with ASD; and mechanisms of action of diet-related factors associated with ASD. Participants developed research proposals to address the priority evidence gaps. The workshop findings serve as a foundation for future prioritization of scientific research to address evidence gaps related to food, nutrition, and ASD.

PMID:38677518 | DOI:10.1016/j.ajcnut.2024.04.020

Dev Med Child Neurol. 2024 Apr 26. doi: 10.1111/dmcn.15937. Online ahead of print.

ABSTRACT

AIM: To identify on a population basis the prevalence of autism and attention-deficit/hyperactivity disorder (ADHD) in children with Dravet syndrome and factors associated with symptoms of autism and ADHD.

METHOD: Forty-one of 48 children with Dravet syndrome living in Sweden, born between 1st January 2000 and 31st December 2018 underwent assessment including measures of autism and ADHD. Diagnoses of autism and ADHD were made with respect to DSM-5 criteria. Factors associated with features of autism and ADHD were analysed via regression.

RESULTS: Twenty-five of the 41 children fulfilled DSM-5 criteria for autism spectrum disorder and 12 of 37 children considered for an ADHD diagnosis fulfilled DSM-5 criteria for ADHD. Severe intellectual disability was significantly associated with a greater degree of autistic features (p < 0.001) and a DSM-5 diagnosis of autism spectrum disorder (p = 0.029). Younger children had significantly more features of ADHD (p = 0.004) and features of inattention were significantly more common than features of hyperactivity/impulsivity (p < 0.001).

INTERPRETATION: Children with Dravet syndrome often have significant features of autism and ADHD, primarily inattentive type. Screening for autism and ADHD should be routine in children with Dravet syndrome.

PMID:38676322 | DOI:10.1111/dmcn.15937

Pharmaceuticals (Basel). 2024 Apr 9;17(4):482. doi: 10.3390/ph17040482.

ABSTRACT

Studying the involvement of nicotinic acetylcholine receptors (nAChRs), specifically α7-nAChRs, in neuropsychiatric brain disorders such as autism spectrum disorder (ASD) has gained a growing interest. The flavonoid apigenin (APG) has been confirmed in its pharmacological action as a positive allosteric modulator of α7-nAChRs. However, there is no research describing the pharmacological potential of APG in ASD. The aim of this study was to evaluate the effects of the subchronic systemic treatment of APG (10-30 mg/kg) on ASD-like repetitive and compulsive-like behaviors and oxidative stress status in the hippocampus and cerebellum in BTBR mice, utilizing the reference drug aripiprazole (ARP, 1 mg/kg, i.p.). BTBR mice pretreated with APG (20 mg/kg) or ARP (1 mg/g, i.p.) displayed significant improvements in the marble-burying test (MBT), cotton-shredding test (CST), and self-grooming test (SGT) (all p < 0.05). However, a lower dose of APG (10 mg/kg, i.p.) failed to modulate behaviors in the MBT or SGT, but significantly attenuated the increased shredding behaviors in the CST of tested mice. Moreover, APG (10-30 mg/kg, i.p.) and ARP (1 mg/kg) moderated the disturbed levels of oxidative stress by mitigating the levels of catalase (CAT) and superoxide dismutase (SOD) in the hippocampus and cerebellum of treated BTBR mice. In patch clamp studies in hippocampal slices, the potency of choline (a selective agonist of α7-nAChRs) in activating fast inward currents was significantly potentiated following incubation with APG. Moreover, APG markedly potentiated the choline-induced enhancement of spontaneous inhibitory postsynaptic currents. The observed results propose the potential therapeutic use of APG in the management of ASD. However, further preclinical investigations in additional models and different rodent species are still needed to confirm the potential relevance of the therapeutic use of APG in ASD.

PMID:38675442 | DOI:10.3390/ph17040482

Genes (Basel). 2024 Apr 6;15(4):460. doi: 10.3390/genes15040460.

ABSTRACT

Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene that causes autistic phenotypes when deleted or duplicated. Observations from clinical cases and animal models also suggest that changes of RAI1 expression levels contribute to autism. Previously, we used a bioinformatic approach to identify several single nucleotide polymorphisms (SNPs) located within the 5'-region of RAI1 that correlate with RAI1 mRNA expression in the human brain. In particular, the SNP rs4925102 was identified as a candidate cis-acting regulatory variant, the genotype of which may affect the binding of transcription factors that influence RAI1 mRNA expression. In this study, we provide experimental evidence based on reporter gene, chromatin immunoprecipitation (ChIP), and chromatin conformation capture (3C) assays that rs4925102 regulates RAI1 mRNA expression in an allele-specific manner in human cell lines, including the neuroblastoma-derived cell line SH-SY5Y. We also describe a statistically significant association between rs4925102 genotype and autism spectrum disorder (ASD) diagnosis in a case-control study and near-statistically significant association in an Autism Genome Project (AGP) transmission disequilibrium (TDT) study using Caucasian subjects.

PMID:38674394 | DOI:10.3390/genes15040460

Genes (Basel). 2024 Apr 1;15(4):447. doi: 10.3390/genes15040447.

ABSTRACT

This study explores the genetic risk associations with autism spectrum disorder (ASD) using graph neural networks (GNNs), leveraging the Sfari dataset and protein interaction network (PIN) data. We built a gene network with genes as nodes, chromosome band location as node features, and gene interactions as edges. Graph models were employed to classify the autism risk associated with newly introduced genes (test set). Three classification tasks were undertaken to test the ability of our models: binary risk association, multi-class risk association, and syndromic gene association. We tested graph convolutional networks, Graph Sage, graph transformer, and Multi-Layer Perceptron (Baseline) architectures on this problem. The Graph Sage model consistently outperformed the other models, showcasing its utility in classifying ASD-related genes. Our ablation studies show that the chromosome band location and protein interactions contain useful information for this problem. The models achieved 85.80% accuracy on the binary risk classification, 81.68% accuracy on the multi-class risk classification, and 90.22% on the syndromic classification.

PMID:38674382 | DOI:10.3390/genes15040447

Int J Environ Res Public Health. 2024 Apr 13;21(4):474. doi: 10.3390/ijerph21040474.

ABSTRACT

Parents of autistic children experience high levels of parental stress and low quality of life related to the demanding child caring burden they experience. Parent education and training programs are acknowledged to improve parental well-being and reduce parenting stress. In the framework of the Erasmus+ Integrative Autism Parents Training Project (IPAT), we developed the IPAT Training Module based on parents' expressed needs, in order to improve parental quality of life (QoL) and decrease their perceived stress. Sixty-two parents from four countries participated in the IPAT Module Training activity. We used WHOQOL-BREF and Perceived Stress Scale (PSS-10 version) for QoL and stress, respectively, before and after training and a study-specific questionnaire to assess participants' satisfaction. Parents' QoL improved significantly in the environment domain and specific items, while stress levels remained unmodified. Training appeared more advantageous for parents with lower initial QoL and those whose child had been enrolled in a special education program for an extended duration. Parents were quite satisfied, in particular those with lower initial social relationships QoL. Larger studies including a control group are necessary to support preliminary evidence provided by this study, identify additional effect moderators, and disentangle the contribution of different components of the training.

PMID:38673385 | DOI:10.3390/ijerph21040474

Int J Environ Res Public Health. 2024 Mar 30;21(4):421. doi: 10.3390/ijerph21040421.

ABSTRACT

Different dimensions of visual attention to social (human faces) and non-social stimuli (objects) were assessed in 19 preschool children with Autism Spectrum Disorder (ASD) and 19 typically developing (TD) age, gender, and IQ-matched controls through an original paired preference eye-tracking paradigm. The present study found a significantly reduced attentional bias toward human faces in children with ASD compared to TD controls. The analysis of the total fixation time showed a significantly reduced preference for faces in children with ASD compared to TD children. Moreover, while TD children showed a significant preference for the face over the object, children in the ASD group observed the two paired pictures for a similar amount of time, thus showing no preference. Besides, children with ASD paid significantly more sustained attention to the objects than TD children. Children in the TD group paid greater sustained attention to the faces over the objects, while children in the ASD group did not differentiate between objects and faces. Finally, an age effect was found in ASD, as younger children in the group tended to prefer objects and to show more sustained attention towards them. Overall, these findings add to the literature on anomalies in attention toward social and non-social stimuli in young children with ASD compared to their TD counterparts. These results are discussed in the light of previous studies and suggest possible directions for future research.

PMID:38673332 | DOI:10.3390/ijerph21040421

Biomolecules. 2024 Apr 3;14(4):437. doi: 10.3390/biom14040437.

ABSTRACT

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe deficits in social communication and interaction, repetitive movements, abnormal focusing on objects, or activity that can significantly affect the quality of life of the afflicted. Neuronal and glial cells have been implicated. It has a genetic component but can also be triggered by environmental factors or drugs. For example, prenatal exposure to valproic acid or acetaminophen, or ingestion of propionic acid, can increase the risk of ASD. Recently, epigenetic influences on ASD have come to the forefront of investigations on the etiology, prevention, and treatment of this disorder. Epigenetics refers to DNA modifications that alter gene expression without making any changes to the DNA sequence. Although an increasing number of pharmaceuticals and environmental chemicals are being implicated in the etiology of ASD, here, we specifically focus on the molecular influences of the abovementioned chemicals on epigenetic alterations in neuronal and glial cells and their potential connection to ASD. We conclude that a better understanding of these phenomena can lead to more effective interventions in ASD.

PMID:38672454 | DOI:10.3390/biom14040437

Brain Sci. 2024 Apr 16;14(4):388. doi: 10.3390/brainsci14040388.

ABSTRACT

A screening questionnaire for autism symptoms is not yet available in Poland, and there are no recommendations regarding screening for developmental disorders in Polish primary healthcare. The aim of this study was to assess the opinions of parents and physicians on the legitimacy and necessity of screening for autism spectrum disorders, potential barriers to the implementation of the screening program, and the evaluation and presentation of the process of online ASD screening, which was part of the validation program for the Polish version of one of the screening tools. This study involved 418 parents whose children were screened online and 95 primary care physicians who expressed their opinions in prepared surveys. The results indicate that both parents and doctors perceive the need to screen children for ASD in the general population without a clear preference as to the screening method (online or in person). Moreover, online screening is considered by respondents as a satisfactory diagnostic method. Therefore, online screening may prove to be at least a partial method of solving numerous obstacles indicated by participants' systemic difficulties including time constraints, the lack of experienced specialists in the field of developmental disorders and organizational difficulties of healthcare systems.

PMID:38672037 | DOI:10.3390/brainsci14040388

Brain Sci. 2024 Apr 13;14(4):379. doi: 10.3390/brainsci14040379.

ABSTRACT

BACKGROUND: Autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) are two common and impairing neurodevelopmental conditions with partial symptomatic overlap. The aim of this study is to systematically and meta-analytically examine the following: (i) the prevalence of an OCD diagnosis among young people with ASD, (ii) the prevalence of an ASD diagnosis among young people with OCD, and (iii) the clinical and therapeutic implications of such comorbidity.

METHOD: A multistep literature search was performed from database inception until 17 November 2023. This PRISMA/MOOSE-compliant systematic review, registered in PROSPERO (CRD42023480543), identified studies reporting on the prevalence, sociodemographic, psychopathologic, prognostic, and therapeutic correlates of OCD and ASD concurrence in children and adolescents. A quantitative meta-analysis with random effects was conducted to analyse the pooled prevalence of OCD among samples with a mean age of < 18 years old with ASD and the prevalence of ASD among individuals under 18 with OCD. Sensitivity analyses were performed to investigate the effect of diagnostic criteria and different continents. Meta-regression analyses were conducted to examine the effect of gender, age, IQ, and OCD severity scores. A narrative review of the clinical and therapeutical implications of the comorbidity was provided.

RESULTS: 42 studies were selected for the systematic review (SR), and 31 of them were also included in one of the meta-analyses. The pooled prevalence of OCD among ASD youth samples (n = 8916, mean age = 10.6 ± 1.6; 16.4% female) was 11.6% (95% confidence intervals [CI] = 6.9%; 18.8%), and the pooled prevalence of ASD among OCD children and adolescent samples (n = 6209, mean age = 14.1 ± 1.4; 45.7% female) was 9.5% (95% CI = 6.0%; 14.7%). Meta-regressions found a statistically higher prevalence of ASD among samples with a lower prevalence of females (β = -4.7; 95%CI = -8.6; -0.8). Children with both OCD and ASD present higher rates of functional impairment, psychopathology, and other comorbidities, compared to youth with either of the disorders alone.

CONCLUSIONS: OCD and ASD are highly concurrent conditions in youth, with symptomatic, prognostic, severity, and therapeutic implications. Future research should focus on conducting longitudinal cohort studies prospectively to determine development trajectories, along with randomized controlled trials to assess the efficacy of specific therapeutic interventions.

PMID:38672028 | DOI:10.3390/brainsci14040379

Brain Sci. 2024 Mar 30;14(4):343. doi: 10.3390/brainsci14040343.

ABSTRACT

Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain genes and variants, genetic deletions, or duplications at the chromosome level. The genetic mutations or defects in single genes associated with these genetic disorders result in a significant elevation of risk for developing autism relative to the general population and are related to recurrence with inheritance patterns. Additionally, these syndromes are associated with typical behavioral characteristics or phenotypes as well as an increased risk for specific behavioral or psychiatric disorders and clinical findings. Knowledge of these associations helps guide clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families.

PMID:38671997 | DOI:10.3390/brainsci14040343

Children (Basel). 2024 Apr 15;11(4):472. doi: 10.3390/children11040472.

ABSTRACT

Autism spectrum disorder (ASD) exhibits diverse manifestations influenced by demographic factors. This study evaluates these variations within Saudi Arabia, aiming to investigate language, speech and behaviour characteristics across different demographics in Saudi Arabia using the Arabic Version of the Gilliam Autism Rating Scale-Third Edition (A-GARS-3). Employing a cross-sectional design, 178 participants were stratified by developmental status (n = 124 school settings, n = 54 clinical setting), sex (Females = 77, Males =101), age (range = 3-22), and geographical region (different provinces in Saudi Arabia). The A-GARS-3 measured ASD manifestations across six subscales. The study identified significant differences in ASD manifestations by developmental status, with higher ASD likelihood and severity in clinical settings. Younger children showed more pronounced ASD characteristics, and males were slightly more likely to be diagnosed with ASD. Geographical analysis revealed regional differences in severity. The findings underline the importance of demographic considerations in ASD assessment and diagnosis, suggesting the need for age-specific and culturally sensitive approaches. The A-GARS-3 is a reliable tool for the Saudi context. Regional disparities in ASD prevalence and severity indicate a need for tailored health policies and resources across Saudi provinces.

PMID:38671690 | DOI:10.3390/children11040472

Children (Basel). 2024 Apr 15;11(4):473. doi: 10.3390/children11040473.

ABSTRACT

Two neurodevelopmental conditions, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), have been associated with executive function (EF) impairments but the specificity of their impairments is still controversial. The present meta-analysis aimed to identify the differences in EF profiles of ASD, ADHD, and ASD+ADHD in relation to a control group of individuals with typical development (TD) and to understand whether the EF performance could change depending upon the type of measure used to assess EF (performance tests vs. questionnaires). Results from 36 eligible studies revealed that ADHD and ASD showed more difficulties than the TD group in tests and, particularly, in questionnaires. No significant differences in the EF profile emerged between ASD and ADHD when assessed through neuropsychological tests (d = 0.02), while significant differences emerged when assessed through questionnaires, with ADHD having higher ratings than ASD (d = -0.34). EF questionnaires and neuropsychological tests may catch two different constructs of EF, with the former being more predictive of everyday life EF impairments. The comparison between the double diagnosis group (ADHD+ASD) and the clinical groups pointed out that the former has a more similar EF profile to the ADHD-alone one and that it shows more difficulties than ASD-alone.

PMID:38671689 | DOI:10.3390/children11040473