Pubmed du 14/11/24

Pubmed du jour

1. Aiyeolemi AA, Amaeze OU, Okugbeni V, Kehinde O, Adeleke AF, Barner JC. Nigerian Hospital and Community Pharmacists’ Knowledge, Awareness, and Perceptions of Autism Spectrum Disorders. Health Serv Insights. 2024; 17: 11786329241299314.

BACKGROUND: Pharmacists can play a role in enhancing treatment outcomes of autistic people, but they must possess sufficient knowledge and awareness of autism spectrum disorders (ASD). Current evidence is scant among Nigerian pharmacists. The objectives of this study were to: (1) Describe and compare Nigerian hospital and community pharmacists’ ASD knowledge, awareness, and perceptions; (2) Determine if there is a significant correlation between ASD knowledge, awareness, and perceptions; (3) Determine if demographic and practice-related factors are significantly related to pharmacists’ ASD awareness. METHOD: Hospital and community pharmacists were administered a self-report survey to assess ASD knowledge and awareness, as well as confidence in caring for autistic people, and perceived benefits of ASD training and care. Data were collected from August to December 2021 and analyzed using inferential and descriptive statistics. Cronbach’s alphas were used to assess reliability. RESULTS: Of respondents, (Total N = 383; N = 201 hospital pharmacists from various states) and N = 182 community pharmacists in Lagos state) community pharmacists had significantly higher mean knowledge than hospital pharmacists (58.10% ± 19.00% vs 53.20% ± 20.10%; P = .016). Overall mean awareness score was 2.90 ± 0.80, with no significant difference between community and hospital pharmacists (P = .096). Perception regarding ASD continuing education (CE) was strongly correlated with the perceived benefits of pharmacy services to autistic people in Nigeria (r = .69; P < .0001). Additionally, awareness was positively correlated with knowledge (r = .47, P < .0001) and perceived confidence in ASD medication counseling (r = .54, P < .0001). Multivariate analysis revealed that being a hospital pharmacist, having courses on ASD during pharmacy degree programs, undergoing ASD CE, and having <5 years of practice experience were significantly (P < 0.05) associated with higher ASD awareness. CONCLUSION: Respondents had suboptimal knowledge and awareness of ASD. Including ASD in the pharmacy curriculum and providing CE programs may help improve pharmacists' ability to provide more optimal patient care services for autistic people.

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2. Baker S. An Interview with Dr. William Parker on the Connection between Acetaminophen and Autism. Integr Med (Encinitas). 2024; 23(5): 42-7.

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3. Barnes J, Morse B. Emotional Health Assessment in Students With Intellectual and Developmental Disabilities. NASN Sch Nurse. 2024; 39(6): 289-95.

Students with intellectual and developmental disabilities (IDD) are likely to experience psychiatric symptoms, like depression, anxiety, and distress, throughout their lifetime. Due to communication differences and minimal use of specialized diagnostic assessments for anxiety and depression, emotional pain can often be overlooked or underestimated in students with IDD. This is often complicated by atypical presentations of anxiety and depression, such as externalized aggression, self-injurious behaviors, or other behavioral dysregulation, that can indicate emotional distress, physical pain, or other medical complications. School nurses play an important role in assessing for emotional and physical pain in students with IDD using assessment tools currently available and clinical judgment. Tools that have been created for use in this population may account for the diversity of communication, sensory, and developmental differences in students with IDD. Through leading education and advocacy for the interprofessional school team, school nurses can increase the access that students with IDD have to equitable emotional health evaluations and services. School nurses can also promote emotional wellness for students with IDD through the incorporation of mindful and community activities in the care plan.

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4. Bennett T, Jambon M, Zaidman-Zait A, Duku EK, Georgiades S, Elsabbagh M, Smith IM, Vaillancourt T, Zwaigenbaum L, Kerns CM, Richard AE, Bedford R, Szatmari P. Early-Onset Trajectories of Emotional Dysregulation in Autistic Children. J Am Acad Child Adolesc Psychiatry. 2024.

OBJECTIVES: Emotional dysregulation is a common and debilitating problem for autistic children and their families. However, we know little about early-onset patterns of dysregulation, associated risk factors, and child and family outcomes. We aimed to characterize trajectories of emotional dysregulation in an inception cohort of autistic preschoolers. METHOD: Caregivers reported on the emotional dysregulation of 396 autistic children using the Aberrant Behavior Checklist (ABC) irritability and hyperactivity scales at 6 timepoints from shortly after ASD diagnosis (ages 2-4 years) to pre-adolescence (10-11 years). Covariance pattern mixture modeling was used to characterize the number and shape of latent dysregulation trajectories that best fit underlying data. Child and family correlates were measured at baseline and ages 10-11 years to characterize early risk factors and pre-adolescent profiles associated with distinct latent trajectories. RESULTS: Three distinct trajectory classes best fit the data: persistently self-regulated (18% of sample); moderate and declining (54%), and persistently dysregulated (28%). Children classified in the persistently dysregulated trajectory lived with more depressed caregivers and in families reporting greater relationship problems and lower household incomes compared to lower-risk trajectories. Few associations were found with baseline child characteristics. Persistent dysregulation problems were associated with significantly worse child mental health and functional outcomes during pre-adolescent years. CONCLUSION: Risk of persistent severe emotional dysregulation may be identifiable at time of early autism diagnosis. Diagnostic assessments should include contextual risk factors and links to evidence-based family supports and interventions.

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5. Bosley R, Loveall SJ, Kellum KK, Hawthorne K. RECALL prompting hierarchy improves responsiveness for autistic children and children with language delay: a single-case design study. Front Psychol. 2024; 15: 1435688.

The purpose of the current study was to expand upon previous research on RECALL, a dialogic reading intervention modified for autistic children aimed at increasing engagement. Children ages 3-6 years (n = 6) with language delays with or without co-occurring autism were tested using a multiple baseline across participants design. During baseline, the interventionist used dialogic reading and asked questions after every page. During intervention, the interventionist used RECALL, including a least to most prompting hierarchy with visual prompt cards. Children were more responsive and produced more meaningful correct responses during the intervention. Response type (linguistic vs. non-linguistic) also changed from baseline to intervention, though the pattern varied across participants. Intervention was not associated with increased responsiveness to adult bids for attention or pauses designed to encourage the child to initiate an interaction, though a few children showed changes in these responses over time.

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6. Camillo L, Pozzi M, Bernardo P, Pisano S, Nobile M. Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development and Potential Place in Therapy. Drug Des Devel Ther. 2024; 18: 5023-40.

Trofinetide is a first-in-class pharmacological treatment proposed for patients with Rett Syndrome. It is a long half-life derivative of glycine-proline-glutamate, the tripeptide normally excided from Insulin-like Growth Factor 1 upon degradation. Due to containing glutamate and glycine in its structure, trofinetide is thought to act through NMDA receptor modulation, thus providing a normalization of neuronal activity and survival. Trofinetide was tested in a series of short and long-term trials, showing good efficacy at improving scores on the Clinical Global Impression-Improvement scale and Rett Syndrome Behavior Questionnaire, with specific effect only on some subscales, ie General Mood subscale and Repetitive Face Movement subscale. No effects were documented on other subscales or on epilepsy, heart and bone -related symptoms. The main adverse effects of trofinetide, severe enough to determine discontinuation, include diarrhea, vomiting, and consequent weight loss. These may be scarcely avoidable, given the need to assume a very large amount of trofinetide per day. Other inherent limitations of use possibly regard the limited duration of drug supplies, as one bottle may last three days only, depending on weight, and the relatively high cost per bottle. Trofinetide has no direct competitors: single symptoms of the Rett Syndrome, for instance, seizures or aggressive behaviors, are currently treated with drugs that have been developed for patients without the Rett Syndrome. This leads to suboptimal efficacy and increased risk of adverse effects. The place in therapy of trofinetide is yet to be determined, based on the results of clinical trials, on its practical usability, and on the windows of opportunity for intervention. Moreover, trofinetide may be curative if given early enough during brain development, or merely symptomatic if given to young adults, and no data exist on this aspect. The place in therapy of trofinetide will require reassessment after competing treatments enter the market.

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7. Canale RR, Larson C, Thomas RP, Barton M, Fein D, Eigsti IM. Investigating frank autism: clinician initial impressions and autism characteristics. Mol Autism. 2024; 15(1): 48.

BACKGROUND: « Frank autism, » recognizable through the first minutes of an interaction, describes a behavioral presentation of a subset of autistic individuals that is closely tied to social communication challenges, and may be linked to so-called « prototypical autism. » To date, there is no research on frank autism presentations of autistic adolescents and young adults, nor individuals diagnosed with autism spectrum disorder (ASD) in childhood who do not meet diagnostic criteria during or after adolescence (loss of autism diagnosis, LAD). In addition, there are currently no data on the factors that drive frank autism impressions in these adolescent groups. METHODS: This study quantifies initial impressions of autistic characteristics in 24 autistic, 24 LAD and 26 neurotypical (NT) individuals ages 12 to 39 years. Graduate student and expert clinicians completed five-minute impressions, rated confidence in their own impressions, and scored the atypicality of behaviors associated with impressions; impressions were compared with current gold-standard diagnostic outcomes. RESULTS: Overall, clinicians’ impressions within the first five minutes generally matched current gold-standard diagnostic status (clinical best estimate), were highly correlated with ADOS-2 CSS, and were driven primarily by prosodic and facial cues. However, this brief observation did not detect autism in all cases. While clinicians noted some subclinical atypicalities in the LAD group, impressions of the LAD and NT groups were similar. LIMITATIONS: The brief observations in this study were conducted during clinical research, including some semi-structured assessments. While results suggest overall concordance between initial impressions and diagnoses following more thorough evaluation, findings may not generalize to less structured, informal contexts. In addition, our sample was demographically homogeneous and comprised only speaking autistic participants. They were also unmatched for sex, with more females in the non-autistic group. Future studies should recruit samples that are diverse in demographic variables and ability level to replicate these findings and explore their implications. CONCLUSIONS: Results provide insights into the behavioral characteristics that contribute to the diagnosis of adolescents and young adults and may help inform diagnostic decision making in the wake of an increase in the demand for autism evaluations later than childhood. They also substantiate claims of an absence of apparent autistic characteristics in individuals who have lost the diagnosis.

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8. Carson TB, Guerrero LA, Niebles M, Gayle CGF. Modified cognitive behavioral therapy approach reduces loudness discomfort levels for an autistic child with hyperacusis: case report. Front Psychiatry. 2024; 15: 1440624.

INTRODUCTION: Hyperacusis is common among the autistic population, with a lifetime prevalence estimated at up to 60% compared to 17.1% in those without autism. For autistic children, avoidance behaviors and distress associated with hyperacusis significantly disrupt participation in everyday routines including academic, social and leisure activities. Although hyperacusis is a significant problem for children with autism and their families, there is little research on effective interventions. This report describes the clinical case of an 11-year-old boy with autism who received a modified cognitive behavioral therapy (CBT) approach to address symptoms of hyperacusis. CASE PRESENTATION: Patient A is an 11-year-old boy with autism and hyperacusis. He and his parents report difficulties tolerating loud or high-pitched sounds including whistling, fireworks, traffic and high-pitched musical instruments (e.g., the ocarina and flute). When hearing these sounds during everyday activities (e.g., celebrations and social events) he will often ask strangers to stop, cover his ears, or avoid/run away from the source of sound. A modified CBT approach was combined with exposure therapy, and sensory-based self-regulation strategies to improve tolerance and decrease distress when hearing whistling. Treatment outcomes include improved loudness discomfort levels in audiology evaluations, improved auditory domain scores on the Sensory Profile questionnaires, lower self-reported subjective units of distress scale (SUDS) ratings in response to bothersome sounds, and decreased use of noise canceling headphones during daily activities. The client and his parents also reported generalization of these improvements with other sounds (e.g., fireworks). CONCLUSION: The patient described in this case report showed measurable improvements in his ability to tolerate whistling, a bothersome sound encountered regularly in his daily life. Considering the high prevalence rate of hyperacusis in autism and its impact on children and family routines, stress and daily living, the development and testing of an effective treatment approach for hyperacusis is needed. The treatment plan for this case arose from the collaboration between professionals in occupational therapy, applied behavior analysis, audiology, and clinical psychology. Future studies are encouraged to determine the efficacy of this combined approach for other children with autism and hyperacusis.

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9. Christiansen GB, Petersen LV, Chatwin H, Yilmaz Z, Schendel D, Bulik CM, Grove J, Brikell I, Semark BD, Holde K, Abdulkadir M, Hübel C, Albiñana C, Vilhjálmsson BJ, Børglum AD, Demontis D, Mortensen PB, Larsen JT. The role of co-occurring conditions and genetics in the associations of eating disorders with attention-deficit/hyperactivity disorder and autism spectrum disorder. Mol Psychiatry. 2024.

Eating disorders (EDs) commonly co-occur with other psychiatric and neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the pattern of family history and genetic overlap among them requires clarification. This study investigated the diagnostic, familial, and genetic associations of EDs with ADHD and ASD. The nationwide population-based cohort study included all individuals born in Denmark, 1981-2008, linked to their siblings and cousins. Cox regression was used to estimate associations between EDs and ADHD or ASD, and mediation analysis was used to assess the effects of intermediate mood or anxiety disorders. Polygenic scores (PGSs) were used to investigate the genetic association between anorexia nervosa (AN) and ADHD or ASD. Significantly increased risk for any ED was observed following an ADHD or ASD diagnosis. Mediation analysis suggested that intermediate mood or anxiety disorders could account for 44%-100% of the association between ADHD or ASD and ED. Individuals with a full sibling or maternal half sibling with ASD had increased risk of AN compared to those with siblings without ASD. A positive association was found between ASD-PGS and AN risk whereas a negative association was found between AN-PGS and ADHD. In this study, positive phenotypic associations between EDs and ADHD or ASD, mediation by mood or anxiety disorder, and genetic associations between ASD-PGS and AN and between AN-PGS and ADHD were observed. These findings could guide future research in the development of new treatments that can mitigate the development of EDs among individuals with ADHD or ASD.

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10. Collu R, Zarate YA, Xia W, Fish JL. Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways. Metab Brain Dis. 2024; 40(1): 3.

Special AT-rich sequence-binding protein 2 (SATB2) is a master regulator of gene expression. Mutations of the SATB2 gene results in the SATB2-associated syndrome (SAS), a genetic disorder characterized by neurodevelopmental disabilities and autism-related phenotype. The importance of plasma as an indicator of SAS phenotypes is unknown. We aim to investigate if pathogenic variants in SATB2 are associated with alteration to relevant pathways in the plasma of SAS patients and identify key differentially regulated proteins which may serve as biomarkers to improve diagnostic and future pharmacological approaches. We used well-validated proteomic technologies to determine the proteomic profile of plasma from SAS patients compared to healthy control subjects. Bioinformatical analysis was performed to identify significant proteins and functionally enriched pathways. We identified differentially expressed proteins in the plasma of SAS patients that are significantly involved in metabolism-related pathways. Energy metabolism, glucose metabolism and vitamin metabolism pathways are significantly enriched in SAS patients as compared to healthy controls. Our study linked SATB2 mutations to the impairment of plasma proteins involved in different metabolic pathways in SAS patients.

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11. Coret A, Agostino H. Anorexia nervosa with comorbid autism spectrum disorder: Optimizing care for youth, caregivers, and health care providers. Paediatr Child Health. 2024; 29(6): 374-7.

Youth with anorexia nervosa (AN) have been reported to have high levels of comorbid autism spectrum disorder (ASD) and ASD-like traits suggesting a potential shared underlying neurodevelopmental or genetic link between the disorders. Youth with comorbid AN and ASD symptomatology generally require more intensive treatment and have worse psychological outcomes following treatment. To date, no Canadian national guidelines exist for the treatment of this comorbidity. An informal survey of tertiary paediatric eating disorder programs across Canada revealed that centres do not routinely screen for ASD at intake and few offer any treatment modifications for youth with AN and suspected/diagnosed comorbid ASD. This represents a significant care gap for this clinical sub-population and an important area for future study and healthcare provider training.

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12. Elawad S, Omer Mohamed Elawad S, Elbadawi MH, Yousif Abdalla Sosal W, Mohamed Khalid L, Rabeie Hassan AbdEldaim D, Hemmeda L, Abbasher Hussien Mohamed Ahmed K, Mustafa Ahmed GE. Exploring the effect of diet programs on the behavior of Sudanese children with autism and the prevalence and association of gastrointestinal symptoms: a multi-center cross-sectional study. Ann Med Surg (Lond). 2024; 86(11): 6488-94.

BACKGROUND AND AIMS: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social difficulties, speech and nonverbal communication issues, and restricted behaviors. Nutritional issues, such as food allergies and intolerances, can affect children with ASD. This study aimed to evaluate the impact of diet programs on ASD behavior and gastrointestinal symptoms, which would be considered as a starting point to increase the family’s knowledge about how to practice healthy and suitable dieting for their children. MATERIALS AND METHODS: The study was a cross-sectional observational study on 45 children with an autism spectrum disorder in four centers aged 2-18 in Khartoum state. Data was collected through an interview questionnaire, which included sociodemographic, diet, gastrointestinal, and behavioral assessments. The data was analyzed using SPSS to find the correlation between the various variables. Independent t-test, Analysis of Variance, and Mann-Whitney test were used in univariant analysis to assess the association between study variables, while multiple linear regression was used in multivariant analysis for the same purpose. RESULTS: The study involved a large number of children with autism spectrum disorder (ASD), with 80% being male and 73.3% being school-aged. Most had parents as guardians and 71.1% were in intermediate financial status. About 20% were overweight or obese, and 57.8% did not have a specific diet program. Food selectivity was prevalent, with 22.7% having allergies to milk and wheat. ASD children experienced vomiting, gastric reflux, abdominal pain, and changes in stool characteristics. A significant link was found between financial status, behavioral status and gastrointestinal changes. High financial status was significantly different from intermediate and low statuses based on behavioral changes. However, no significant association was found in multivariant analysis. CONCLUSION: The study found that ASD children generally have good nutritional health, with a higher degree of dietary selection. The financial status of guardians significantly influenced behavioral and gastrointestinal changes in the children. Further interventional studies are recommended to assess the direct impact of diet programs on these symptoms.

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13. Girolamo T, Escobedo A, Ghali S, Greene-Pendelton K, Campos I, Ram-Kiran P. Services in Minoritized Autistic Adolescents and Adults Varying in Language Skills. Semin Speech Lang. 2024.

Racially and ethnically minoritized (minoritized) autistic individuals face intersectional disparities in service access in the transition to adulthood. Our understanding of disparities is limited by systematic exclusion from research and inadequate approaches to characterizing services. To address these gaps and effect advocacy, this study (1) examined services received, unmet service needs, and barriers in minoritized autistic adolescents and adults and (2) determined if language, NVIQ, and autism traits predict services when deployed as binary or continuous variables. Academic and community partners tailored community-based participatory research (CBPR) to a local context. Participants (N = 73, ages 13-30) completed a behavioral assessment protocol. Participants and caregivers provided information on services received, unmet service needs, and barriers to services. Data were analyzed using descriptive and regression. Participants received multiple services yet had multiple unmet service needs and barriers. Effects of services differed by approach. Language impairment, but not language scores, predicted receiving more services. High levels of autism traits and autism trait scores predicted more unmet service needs. While the number of services and unmet service needs was similar to prior work, differences in individual service variables and effects support attention to heterogeneity. Findings support intersectional approaches to CBPR and autism research.

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14. Huang L, Wang M, Huang W, Zhang M, He W. Addressing the mental health of families living with autism spectrum disorder: insights and future directions. Eur Child Adolesc Psychiatry. 2024.

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15. Hussain MA, LaMay D, Grant E, Ou Y. Deep learning of structural MRI predicts fluid, crystallized, and general intelligence. Sci Rep. 2024; 14(1): 27935.

Can brain structure predict human intelligence? T1-weighted structural brain magnetic resonance images (sMRI) have been correlated with intelligence. However, the population-level association does not fully account for individual variability in intelligence. To address this, studies have emerged recently to predict individual subject’s intelligence or neurocognitive scores. However, they are mostly on predicting fluid intelligence (the ability to solve new problems). Studies are lacking to predict crystallized intelligence (the ability to accumulate knowledge) or general intelligence (fluid and crystallized intelligence combined). This study tests whether deep learning of sMRI can predict an individual subject’s verbal, comprehensive, and full-scale intelligence quotients (VIQ, PIQ, and FSIQ), which reflect fluid and crystallized intelligence. We performed a comprehensive set of 432 experiments, using different input image channels, six deep learning models, and two outcome settings, in 850 healthy and autistic subjects 6-64 years of age. Our findings indicate a statistically significant potential of T1-weighted sMRI in predicting intelligence, with a Pearson correlation exceeding 0.21 (p < 0.001). Interestingly, we observed that an increase in the complexity of deep learning models does not necessarily translate to higher accuracy in intelligence prediction. The interpretations of our 2D and 3D CNNs, based on GradCAM, align well with the Parieto-Frontal Integration Theory (P-FIT), reinforcing the theory's suggestion that human intelligence is a result of interactions among various brain regions, including the occipital, temporal, parietal, and frontal lobes. These promising results invite further studies and open new questions in the field.

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16. Ke SY, Wu H, Sun H, Zhou A, Liu J, Zheng X, Liu K, Westover MB, Xu H, Kong XJ. Corrigendum: Classification of autism spectrum disorder using electroencephalography in Chinese children: a cross- sectional retrospective study. Front Neurosci. 2024; 18: 1501782.

[This corrects the article DOI: 10.3389/fnins.2024.1330556.].

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17. Kyselicová K, Baroková Ž, Dukonyová D, Bartko B, Seliuk M, Polónyiová K, Vidošovičová M, Záhumenský J, Beňuš R, Ostatníková D. Language defi cit in boys with autism spectrum disorder in relation to maternal reproductive health, endocrine disruptors, and delivery method. Ceska Gynekol. 2024; 89(5): 360-9.

OBJECTIVES: The presented research aimed to identify prenatal factors involved in abnormal neurodevelopment and postnatal manifestation of an autistic phenotype in 107 boys (average age 4.31 ± 2.24 years). MATERIALS AND METHODS: Their biological mothers were asked to fill out a comprehensive questionnaire about their reproductive health, infections during pregnancy, oral contraceptive intake before conception, and potential substance abuse before and during pregnancy as well as delivery and newborn information. The boys were subsequently diagnosed with autism spectrum disorder (ASD) using the combination of Autism Diagnostic Observation Schedule (ADOS-2) and Autism Diagnostic Interview – Revised (ADI-R). Based on the ADOS-2 module chosen during diagnosis, boys diagnosed with Module 1 can be classified as nonverbal or minimally verbal (N = 68), while those diagnosed using Module 3 are fully verbal (N = 39). RESULTS: According to our results, reproductive health related to the length of the menstrual cycle before pregnancy with the autistic child seems to play a role with regards to the severity of the disorder (P = 0.017) as well as the number of previous pregnancies (P = 0.026). Mothers of nonverbal children reported to have had a much shorter menstrual cycle (27.35 ± 6.60 days) than those with verbal children (30.14 ± 4.44 days) and reported more previous pregnancies (0.93 ± 1.07 vs. 0.51 ± 0.91), while not reporting the number of live births before they had the autistic child. Children who were later diagnosed as non-verbal had a longer delivery time (from 2 to 48 hours; on average 11.13 hours, SD = 9.49) than verbal ones (between 1 and 27 hours, which was on average 7.09 hours, SD = 8.91), P = 0.0182. Delivery method didn’t play a role in this context, and neither did the type of conception (natural, insemination, etc.). CONCLUSION: Studying the involvement of prenatal factors in the etiology of autism based on the speech of the child seems to be a promising approach.

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18. Li HY, Jiang CM, Liu RY, Zou CC. Report of one case with de novo mutation in TLK2 and literature review. BMC Pediatr. 2024; 24(1): 732.

TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who presented distinctive facial features, gastrointestinal diseases, short stature, language delay, autism spectrum disorder, heart diseases, abnormal genitourinary system and skeletal abnormality. Moreover, we reviewed previous reported patients and our case in order to investigate more information on genotype-phenotype correlation and identify significant clinical characteristics for better diagnosis.

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19. Li Y. Mitigating Risk, Optimizing Care: Antiseizure Medications, Pregnancy, and Autism Spectrum Disorder Risk. Epilepsy Curr. 2024; 24(6): 412-4.

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20. Liu Q, Ma Z, Jin Y, He R, Su X, Chen J, Yin T, Cheng J, Guo Y, Li X, Liu J. Prediction for children with autism spectrum disorder based on digital behavioral features during free play. BMC Psychiatry. 2024; 24(1): 799.

BACKGROUND: Play is an indispensable and meaningful activity in children’s daily life. Research has shown that autistic children often exhibit differences in play development. The core traits of autism, such as distinct patterns in social interaction and communication, focused interests, and repetitive behaviors, frequently manifest in their play. Therefore, play may serve as an insightful measure of these differences. Unlike previous studies focusing on play behaviors only, we explored other behaviors associated with autism during free play, and constructed a clinical prediction model for effectively screening autistic children. METHODS: Participants, including 123 autistic children and 123 neurotypical children aged 1-6 years, engaged in a 1.5-min free play with fixed toys, which was videotaped. A novel behavior-coding scheme was used to code these videos for 19 autistic behaviors, including play. The coding details of the 19 behaviors were then converted and expanded to 81 digital behavior indicators, including counts, duration, and proportion. RESULTS: The autistic children showed less functional play and imaginative play and reduced social communication and interactions, such as eye contact, facial expressions, and vocalizations, compared to the neurotypical children during free play. Furthermore, 5 behavioral indicators were selected for the prediction model through stepwise logistic regression, including 1 on socially oriented vocalizations and 4 on count and duration of functional play. The receiver operating characteristic (ROC) curve revealed a good prediction performance with an area under the curve (AUC) of 0.826, a sensitivity of 85.4%, and a specificity of 68.3%. CONCLUSION: Our findings highlight differences in play performance and social communication and interactions during free play among autistic children. Based on these findings, we constructed a good clinical prediction model, which might be a potential digital tool used by clinicians to effectively screen autistic children.

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21. Liu R, Gerow S, Lory C, McGinnis K, Cosottile D. Caregiver-Implemented Interventions to Improve Daily Living Skills for Individuals With Developmental Disabilities: A Systematic Review. Behav Modif. 2024: 1454455241296514.

Many individuals with intellectual and developmental disabilities (DD) encounter difficulties in performing daily living skills, which limits their self-sufficiency and autonomy. Caregivers, such as parents, are often the individuals who interact with individuals with DD the most during daily living skills routines. Therefore, it is critical to teach caregivers to implement daily living skills interventions with their children. A systematic review of the literature related to caregiver-implemented daily living skills interventions yielded 38 articles. Of those, 20 articles, with 21 experiments, were rated as high quality based on What Works Clearinghouse design standards. Behavior skill training was the most common strategy used to teach caregivers to implement interventions. Common daily living skills interventions included prompting, reinforcement, and task analysis. The most common form of prompting was verbal prompting, and the most common schedule of reinforcement was a continuous schedule of reinforcement. Of the 21 high-quality experiments, 86% demonstrated caregiver-implemented interventions yielded improvements in daily living skills. Several studies demonstrated generalization and maintenance of daily living skills. Implications for research and practice are discussed.

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22. Lu H, Niu J, Wang J, Liu M, Xu M. Characterization of implicit and explicit mind-reading in children with autism based on eye movements. Front Psychiatry. 2024; 15: 1449995.

OBJECTIVE: This study aimed to investigate differences in mind-reading abilities between children with autism and typically developing children across various tasks. METHODS: Sixteen children with autism (aged 5-8 years) were compared to 16 typically developing children matched in language ability. The unexpected location task and unexpected content task were used to assess implicit and explicit mind-reading abilities using an eye tracker and illustrated storybooks. RESULTS: For implicit mind, using differential looking scores shows a no significant difference between the scores of children with autism and typically developing children in the implicit tasks (P=0.399). However, the pupil size show some significant difference between two groups. Second, for the explicit, a significant difference between the scores of children with autism and typically developing children in the explicit tasks (P=0.006). Additionally, only a significant correlation between implicit and explicit mind-reading abilities in children with autism in the unexpected location task was found. CONCLUSION: The mechanism of implicit mind-reading still not very clear. Pupil-Linked arousal response can be consider as a further tool. Further research on implicit and explicit mind-reading abilities is warranted.

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23. Mazurek MO, Pappagianopoulos J, Brunt S, Nevill R, Menezes M, Burroughs C, Sadikova E, Smith JV, Howard M. Inner experiences, mental health, and well-being in autistic and non-autistic adults. Autism Res. 2024.

The nature of autistic adults’ everyday inner experiences has been largely unstudied. The purpose of this study was to examine patterns of inner experiences and how they relate to mental health and wellness among autistic and non-autistic adults. Autistic (n = 303) and non-autistic (n = 289) adults (ages 21-82) completed online surveys assessing their anxiety, depression, happiness, life satisfaction, and inner thinking patterns, (inner speaking [i.e., verbal thinking], inner seeing [i.e., visual thinking], unsymbolized thinking, feelings, sensory awareness, self-talk). Group differences in inner thinking were examined using Mann-Whitney U and chi-square tests. Correlations and multiple linear regressions examined associations between inner experiences, mental health, and well-being. Autistic adults had greater use of inner speaking and sensory awareness, compared to non-autistic adults. The most common primary mode of inner experience for both groups was inner speaking, while fewer autistic adults reported that experiencing thoughts as feelings was their primary modality. Autistic adults reported greater use of self-talk for social assessment, self-criticism, and self-management purposes, compared to non-autistic adults. Experiencing thoughts as inner speech and as feelings were associated with anxiety in both groups. Using self-talk for social assessment and self-criticism purposes was correlated with anxiety and depression in both groups, while using self-talk for self-management was associated with depression and anxiety only among autistic adults. The results suggest that autistic and non-autistic adults have similarities in overall patterns of inner thinking, yet autistic adults may be more likely to engage in self-talk as a strategy to manage challenging day-to-day experiences.

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24. Muffels IJJ, Sadek M, Kozicz T, Morava E. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants. J Inherit Metab Dis. 2024; 47(5): 935-44.

Mono-allelic DHDDS variants are associated with seizures, intellectual disability, and movement disorders. The age of onset and progression rates of symptoms vary greatly among patients, spanning from infancy to late adulthood. Yet, the reasons behind this clinical variability and the underlying pathophysiological mechanisms of the disease have remained elusive. We investigated the age of onset and the progression of symptoms over time in 59 patients with heterozygous DHDDS variants, drawing from medical literature and incorporating five previously unreported cases from the FCDGC Natural History Study. Clinical symptoms typically emerged early in life. Ataxia, tremor, dystonia, and dyskinesia manifested slightly later in childhood. Global developmental delay usually presented as the initial symptom. We observed diverse rates of symptom accumulation over time: some patients exhibited the full spectrum of symptoms in early childhood, while others developed novel symptoms well into adulthood. Interestingly, neither the sex nor the underlying DHDDS variants correlated with the age of symptom onset or specific clinical symptoms. Additionally, we found that 19% of patients presented with autism spectrum disorder. This study offers insight into the age of symptom onset and the rate of symptom accumulation in patients with DHDDS variants. We found no correlation between the age of onset and progression of clinical symptoms with specific DHDDS variants or patient sex. Autism spectrum disorder is common in patients and warrants attention in clinical management.

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25. Nayak A, Khuntia R. Socio-demographic correlates of autism spectrum disorder: A study in Odisha. Ind Psychiatry J. 2024; 33(Suppl 1): S222-s5.

BACKGROUND: There is very little data available on socio-demographic factors associated with the early detection of autism spectrum disorder (ASD). AIM: This study sought to investigate the socio-demographic correlates of ASD. MATERIALS AND METHODS: A cross-sectional study of 201 first-time reported cases of ASD using a semi-structured socio-demographic datasheet was conducted to understand the socio-demographic correlates. The Statistical Package for the Social Sciences (SPSS) software (version 26) was used to calculate frequencies, percentages, and Chi-square values. RESULTS: Descriptive analysis revealed an upward trend in the number of reported cases among both genders. Most cases were five years old or above, from middle socioeconomic background, with parents who had studied above matriculation, and lived in an urban area. Chi-square test results revealed a significant relationship between the number of first-time reported cases of ASD and that of parental education, socioeconomic status (SES), and living conditions. CONCLUSION: A prominent finding of this study was parents’ lack of awareness regarding their child’s condition. Measures for awareness and early detection have been recommended.

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26. Nimbley E, Sharpe H, Maloney E, Gillespie-Smith K, Tchanturia K, Duffy F. A Mixed Method Systematic Review Into the Impact of ED Treatment in Autistic People and Those With High Autistic Traits. Int J Eat Disord. 2024.

OBJECTIVE: Our understanding of the impact of eating disorders (ED) treatment in Autistic people remains elusive. Research has begun to explore ED treatment outcomes and experiences in this population, however current understandings are poorly integrated. The current review therefore sought to explore the impact of ED treatment on Autistic people and those with higher Autistic traits. METHOD: A convergent, segregated approach was used, independently evaluating quantitative then qualitative studies before integrating findings into a coherent narrative synthesis. RESULTS: Autistic people and people with higher Autistic traits report poorer experiences of treatment and may be at increased risk of inpatient admission and prolonged inpatient treatment, possibly explained by difficulties with treatment timeframes and a lack of autism-informed support. Both groups reported similar improvements in ED symptoms and BMI. Higher rates of psychosocial difficulties pre-and post-treatment were reported in those with higher Autistic traits, and emotion-focused interventions were felt to be particularly relevant to Autistic presentations of EDs. Concerns were reported as to how well aligned group-based programs and cognitive-based interventions are for Autistic individuals and those reporting higher Autistic traits. DISCUSSION: Future research in diagnosed autism samples is urgently needed to develop a more robust understanding of Autistic outcomes and experiences. Review findings demonstrate the need for increased understanding of ED presentations and the possible need for treatment adaptations, for Autistic people or those with higher Autistic traits.

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27. Olabumuyi OO, Uchendu OC, Oyewole EA. DEVELOPMENTAL DELAY AND ASSOCIATED FACTORS AMONG UNDER-FIVE CHILDREN: A COMPARATIVE STUDY OF RURAL AND URBAN AREAS IN OYO STATE. West Afr J Med. 2024; 41(11 Suppl 1): S37.

BACKGROUND: Developmental delay, characterized by a child’s failure to achieve expected milestones in one or more developmental domains, is prevalent in Sub-Saharan Africa, where two-thirds of children under five are at risk, exacerbated by limited early screening. OBJECTIVES: This study assessed the prevalence and factors associated with developmental delay among under-five children in rural and urban areas of Oyo State, Nigeria. METHODS: This comparative cross-sectional study utilizing cluster sampling was used to select 1,839 children aged 3 to 4 years. A semi-structured questionnaire adapted from the Nigeria Demographic Health Survey, the Multiple Indicator Cluster Survey Early Childhood Development Index (MICS ECDI), and a literature review were used to collect data on child demographics, nutritional characteristics, and developmental delay across four domains (physical, social-emotional, learning approach, and literacy-numeracy). Analysis was done using STATA which included descriptive and inferential statistics. RESULTS: The mean age was 3.5 ± 0.5 years with slight male predominance in both rural (51.1%) and urban (51.4%) areas. Overall developmental delay was comparable in rural (39.8%) and urban (36.6%) areas. Physical delay was the most common (rural: 55.7%, urban: 52.5%), while learning approach delay was the least prevalent (rural: 15.9%, urban: 18.3%). Child’s age, wealth quintile and exclusive breastfeeding predicted overall developmental delay in both rural and urban LGAs. CONCLUSIONS: There is little variance in the overall prevalence of developmental delay across rural and urban areas, though it remains prevalent in both settings. While risk factors are similar, tailored interventions are necessary to address them effectively.

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28. Sher-Censor E, Harel M, Oppenheim D, Aran A. Parental Representations and Emotional Availability: The Case of Children with Autism and Severe Behavior Problems. J Autism Dev Disord. 2024.

Studies suggest that parents’ emotional availability (EA) is associated with children’s wellbeing, including in the case of children with autism. Our study extended prior research by examining the role of parents’ representations in fostering parental EA and by focusing on fathers and on children with autism and severe behavior problems. We expected that parents’ positive representations would be associated with higher EA and compared mothers’ and fathers’ representations and EA. Participants were 79 mothers and 69 fathers (child age range = 61-173 months, 21.95% girls). Representation assessments included the Reaction to Diagnosis Questionnaire, tapping resolution with respect to the child’s diagnosis, and the coherence and positive comments in parents’ Five Minute Speech Samples about the child. Parents’ EA was coded from parent-child play interactions. Controlling for children’s autism symptoms and adaptive functioning, mothers’ resolution with respect to the child’s diagnosis and positive comments (but not coherence) were associated with their EA, and fathers’ coherence (but not positive comments and resolution) was associated with their EA. Mothers expressed more positive comments than fathers, and the resolution and EA scores of mothers and fathers were significantly correlated. Our results highlight the importance of considering both parents’ representations and EA when studying and working with families of children with autism and severe behavior problems.

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29. Silva G, Firmino RT, Nogueira ABD, Massoni A, D’Ávila S. Parental emotions in families of children and adolescents with and without autism spectrum disorder. Braz Oral Res. 2024; 38: e106.

This study assessed the influence of sociodemographic conditions, oral hygiene habits, and the socio-psychological need for orthodontic treatment on the emotions of caregivers of children with and without autism spectrum disorder (ASD). We conducted a comparative cross-sectional study with families of individuals aged 6 to 14 years at a reference center for neurodevelopmental disorders and two dental school clinics in northeastern Brazil. Caregiver emotions were assessed using the ‘Parental Emotions’ domain of the Family Impact Scale (FIS). We analyzed sociodemographic variables, oral hygiene habits, and sociopsychological need for orthodontic treatment using the esthetic component of the Index of Orthodontic Treatment Need (IOTN). We used descriptive and hierarchical Poisson regression analyses with robust variance (α = 5%). The study included 144 families evenly distributed across the groups. The caregiver group with ASD demonstrated a higher total score for parental emotions (p < 0.001). Factors associated with this factor included caregiver responsible for brushing (PR = 1.34; 95%CI: 1.12-1.59), mandatory need for orthodontic treatment (PR = 1.25; 95%CI: 1.07-1.46), and caregivers' education up to 8 years (PR = 1.45; 95%CI: 1.02-2.07). Caregivers with lower income showed a lower prevalence of parental emotions (PR = 0.57; 95%CI: 0.35-0.93). Caregivers of children with ASD exhibited a higher emotional burden. Factors associated with parental emotions included responsibility for tooth brushing attributed to caregivers, sociopsychological need for orthodontic treatment, and family income.

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30. Smith MJ, Merle JL, Baker-Ericzén M, Sherwood K, Bornheimer LA, Ross B, Harrington M, Sharma A, Brown C, Gordon TT, Telfer D, Reese J, Hirst J, Oulvey EA, Dignadice V, Williams ED, Magaña S, Hume K, Sung C, Burke-Miller JK, Smith JD. A type 1 hybrid multi-site randomized controlled trial protocol for evaluating virtual interview training among autistic transition-age youth. Contemp Clin Trials Commun. 2024; 42: 101384.

A number of policies mandate that autistic transition-age youth receive employment services to prepare for the workforce before high school graduation. A key limitation to these services is the job interview component, which relies on non-standardized, resource-intensive, staff-led role-plays to help autistic transition-age youth improve their interview skills. The autism community has called for better job interview preparation. To address this gap in services, our team, collaborated with the autism community to adapt the intervention, Virtual Reality Job Interview Training (VR-JIT; effective among adults with serious mental illness), into Virtual Interview Training for Transition Age Youth (VIT-TAY). This adapted intervention was tailored to meet the needs of autistic transition age youth while maintaining the core components of VR-JIT (i.e., an online job interview simulator with four levels of automated feedback and e-learning content). A pilot randomized controlled trial (RCT) demonstrated VIT-TAY’s feasibility and initial effectiveness at improving job interview skills, reducing anxiety, and increasing employment rates within six months when added to transition services or pre-employment transition services (Pre-ETS). Thus, the overarching goal of this Hybrid Type 1 effectiveness-implementation study protocol is to conduct a fully-powered RCT of VIT-TAY across 16 schools in various geographical locations. Our specific aims are to 1) Evaluate whether Pre-ETS (or transition services) with VIT-TAY, as compared to Pre-ETS (or transition services) with an active control intervention (i.e., job interview didactics/e-learning with a series of 3-5 min videos of employed autistic adults talking about their career pathways) enhances employment outcomes; 2) Evaluate mechanisms of employment by nine months post-randomization; and 3) Conduct a multilevel, mixed-method process evaluation of the initial implementation of VIT-TAY across settings (e.g., acceptability, feasibility, and barriers and facilitators of implementation).

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31. Sotoodeh MS, Chien SH, Hadjikhani N. Visual attention modulates mu suppression during biological motion perception in autistic individuals. Eur J Neurosci. 2024.

There has been a lot of controversy regarding mirror neuron function in autism spectrum disorder (ASD), in particular during the observation of biological motions (BM). Here, we directly explored the link between visual attention and brain activity in terms of mu suppression, by simultaneously recording eye-tracking and EEGs during BM tasks. Nineteen autistic children (15 boys, mean age = 11.57 ± 4.28 years) and 19 age-matched neurotypical (NT) children (15 boys, mean age = 11.68 ± 5.22 years) participated in the study. Each participant’s eye movement and EEG were simultaneously recorded while watching four BM stimuli (walking, cartwheeling, free-throwing and underarm throwing) and a scrambled condition. Mu (8-13 Hz) suppression index (SI) for central regions was calculated. Fixation counts and percent of fixation time were calculated as indices of eye movements. EEG results revealed significant mu suppressions in the central region in both groups for all BM actions. Eye-tracking results showed that NT children had greater fixation counts and a higher percentage of fixation time than autistic children, indicating greater overall visual attention to BM. Notably, correlational analyses for both groups further revealed that individuals’ fixation time and fixation counts were negatively correlated with the mu suppression index for all actions, indicating a strong association between visual attention and mu SI in the central region. Our findings suggest a critical role of visual attention in interpreting mu suppression during action perception in autism.

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32. Tawankanjanachot N, Melville C, Truesdale M, Kidd L. An online survey of perspectives towards the impact of the covid-19 pandemic amongst caregivers of adolescents with ASD. BMC Nurs. 2024; 23(1): 830.

BACKGROUND: The coronavirus disease (COVID-19) pandemic has had a negative impact on the health and mental health of adolescents and adolescents with autism spectrum disorders (ASD) and their caregivers, have been disproportionally affected. The purpose of this study was to investigate the impact of COVID-19 on Thai caregivers and adolescents with ASD. METHODS: This study used an online survey with closed and free text questions to investigate how the pandemic had impacted on social skills development and psychological variables, and perceived needs for support. The survey link was shared to parents via the Yuwaprasart Withayopathum Child and Adolescent Hospital and the social media platforms of known ASD stakeholder networks in Thailand. Binary logistic regression was used to investigate the relationships between sociodemographic characteristics, service use, and social skills problems experienced by adolescents during the pandemic. Content analysis was applied to analyse free-text data. RESULTS: A total of 376 caregivers of adolescents with ASD aged 10-19 years completed the survey, of which 364 were included in the analysis. In total, 38.7% of caregivers reported that during the pandemic the social skills of their adolescent family member had worsened. Most families reported that they were able to continue to access support from healthcare and educational services, albeit in different ways than pre-pandemic, during the acute stages of the pandemic which benefited the maintenance of ASD symptoms and social skills. Factors identified as reducing the odds of a worsening in social skills during the pandemic included; regular access to treatment for adolescents (odds ratio [OR] = 0.55, confidence interval 95% (CI) 0.32-0.98, p = 0.044), caregivers feeling that they had sufficient support from hospitals (OR = 0.46, 95% CI 0.26-0.81, p = 0.007) and older age of adolescents (OR = 0.53, CI 0.29-0.99, p = 0.047). The qualitative free text comments showed that the caregivers felt that greater information on managing adolescent behaviours, opportunities for adolescents to practice social skills, and the provision of greater emotional support and material assistance from healthcare professionals during the pandemic would have helped them to care for the adolescents with ASD. CONCLUSION: Regular access to services, support from hospitals during the pandemic and older age in adolescence may have helped prevent the worsening of the social skills problems of adolescents with ASD.

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33. Zareh M, Toulabinejad E, Manshaei MH, Zahabi SJ. A deep learning model of dorsal and ventral visual streams for DVSD. Sci Rep. 2024; 14(1): 27464.

Artificial intelligence (AI) methods attempt to simulate the behavior and the neural activity of the brain. In particular, Convolutional Neural Networks (CNNs) offer state-of-the-art models of the ventral visual stream. Furthermore, no proposed model estimates the distance between objects as a function of the dorsal stream. In this paper, we present a quantitatively accurate model for the visual system. Specifically, we propose a VeDo-Net model that comprises both ventral and dorsal branches. As in the ventral visual stream, our model recognizes objects. The model also locates and estimates the distance between objects as a spatial relationship task performed by the dorsal stream. One application of the proposed model is in the simulation of visual impairments. In this study, however, we show how the proposed model can simulate the occurrence of dorsal stream impairments such as Autism Spectrum Disorder (ASD) and cerebral visual impairment (CVI). In the end, we explore the impacts of learning on the recovery of the synaptic disruptions of the dorsal visual stream. Results indicated a direct relationship between the positive and negative changes in the weights of the dorsal stream’s last layers and the output of the dorsal stream under an allocentric situation. Our results also demonstrate that visual-spatial perception impairments in ASD may be caused by a disturbance in the last layers of the dorsal stream.

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34. Zepp L, Anagnostou E, Jones J, Nicolson R, Georgiades S, Lutchmeah S, Kelley E. Investigating the association between generalized anxiety symptoms and social and communication impairments of autistic youth. J Can Acad Child Adolesc Psychiatry. 2024; 33(3): 206-14.

BACKGROUND: Past research has found that overall anxiety and social anxiety symptoms are associated with the occurrence of social and communication challenges within autistic populations. OBJECTIVE: The aim of this study was to determine whether generalized anxiety disorder symptoms were associated with social and communication symptoms in autistic youth. METHOD: The cross-sectional sample was comprised of 253 autistic youth aged 8-18 (196 Males, 57 Females). Participants were divided in a child (Grade 3-8) group and an adolescent (Grade 9-12) group. A hierarchical linear regression analysis was conducted to evaluate whether the generalized anxiety score predicted the social communication composite score, derived from the ADOS-2, after controlling for sex, grade level and expressive language ability. RESULTS: Correlation analyses showed an association between social communication ability and general anxiety disorder symptoms in the child group such that those with greater anxiety had fewer social communication symptoms. However, after controlling for sex, grade, and language ability, general anxiety disorder symptoms did not predict social communication difficulties in either children or adolescents. CONCLUSIONS: Alongside past literature, these findings suggest that the different types of anxiety disorders may have differential impacts on autistic youth’s social and communication symptoms. Further research should investigate whether other anxiety subtypes affect autistic youth’s social and communication symptoms.

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35. Zhu JS, Gong Q, Zhao MT, Jiao Y. Atypical brain network topology of the triple network and cortico-subcortical network in autism spectrum disorder. Neuroscience. 2024.

The default mode network (DMN), salience network (SN), and central executive control network (CEN) form the well-known triple network, providing a framework for understanding various neurodevelopmental and psychiatric disorders. However, the topology of this network remains unclear in autism spectrum disorder (ASD). To gain a more profound understanding of ASD, we explored the topology of the triple network in ASD. Additionally, the striatum and thalamus are pivotal centres of information transmission within the brain, and the realization of various brain functions requires the coordination of cortical and subcortical structures. Therefore, we also investigated the topology of the cortico-subcortical network in ASD, which consists of the DMN, SN, CEN, striatum, and thalamus. Resting-state functional magnetic resonance imaging data on 208 ASD patients and 278 typically developing (TD) controls (8-18 years old) were obtained from the Autism Brain Imaging Data Exchange database. We performed graph theory analysis on the triple network and the cortico-subcortical network. The results showed that the triple network’s clustering coefficient, lambda, and network local efficiency values were significantly lower in ASD, and the nodal degree and efficiency of the medial prefrontal cortex also decreased. For the cortico-subcortical network, the sigma, clustering coefficient, gamma, and network local efficiency showed the same reduction, and the altered clustering coefficient negatively correlated with ASD manifestations. In addition, the interaction between the DMN and CEN was more robust in ASD patients. These findings enhance our understanding of ASD and suggest that subcortical structures should be more considered in future ASD related studies.

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