Pubmed du 10/01/24

Pubmed du jour

1. Abdelaziz EM, Alsadaan N, Alqahtani M, Elsharkawy NB, Ouda MMA, Ramadan OME, Shaban M, Shokre ES. Effectiveness of Cognitive Behavioral Therapy (CBT) on Psychological Distress among Mothers of Children with Autism Spectrum Disorder: The Role of Problem-Solving Appraisal. Behav Sci (Basel);2024 (Jan 10);14(1)

Mothers of children with autism spectrum disorder (ASD) face considerable psychological distress. Cognitive behavioral therapy (CBT) has shown promise in reducing caregiver burden, but evidence in the Arab world is lacking. Problem-solving appraisal training may optimize CBT’s benefits. This study evaluated a tailored CBT program emphasizing the role of problem-solving appraisal in managing distress through the process of CBT. Sixty mothers were randomly allocated in a 1:1 ratio to either the CBT intervention group or the control group. The CBT group received 3-month sessions incorporating problem-solving appraisal training within a CBT curriculum from October 2022 to April 2023. Problem-solving techniques are focused on equipping individuals with the skills to identify, approach, and effectively resolve problems, leading to a reduction in stress levels and an improved capacity to cope with difficult situations. All mothers completed assessments of socio-demographics such as age, level of education, marital status, occupation, and adequacy of family income, the Depression Anxiety Stress Scale (DASS-21) and the Problem-Solving Inventory (PSI) before and after the program. The CBT group showed significant pre-to-post reductions in depression, anxiety, stress, and general psychological distress compared to controls (all p < 0.05). They also exhibited significant improvements in problem-solving confidence, approach-avoidance style and personal control (all p < 0.05). The customized CBT program markedly improved psychological well-being for mothers of children with ASD in Egypt. Incorporating problem-solving techniques may optimize CBT's benefits cross-culturally. These findings have implications for the implementation of evidence-based support programs for families impacted by ASD worldwide.

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2. Amit G, Bilu Y, Sudry T, Avgil Tsadok M, Zimmerman DR, Baruch R, Kasir N, Akiva P, Sadaka Y. Early Prediction of Autistic Spectrum Disorder Using Developmental Surveillance Data. JAMA Netw Open;2024 (Jan 2);7(1):e2351052.

IMPORTANCE: With the continuous increase in the prevalence of autistic spectrum disorder (ASD), effective early screening is crucial for initiating timely interventions and improving outcomes. OBJECTIVE: To develop predictive models for ASD using routinely collected developmental surveillance data and to assess their performance in predicting ASD at different ages and in different clinical scenarios. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study used nationwide data of developmental assessments conducted between January 1, 2014, and January 17, 2023, with minimal follow-up of 4 years and outcome collection in March 2023. Data were from a national program of approximately 1000 maternal child health clinics that perform routine developmental surveillance of children from birth to 6 years of age, serving 70% of children in Israel. The study included all children who were assessed at the maternal child health clinics (N = 1 187 397). Children were excluded if they were born at a gestational age of 33 weeks or earlier, had no record of gestational age, or were followed up for less than 4 years without an ASD outcome. The data set was partitioned at random into a development set (80% of the children) and a holdout evaluation set (20% of the children), both with the same prevalence of ASD outcome. EXPOSURES: For each child, demographic and birth-related covariates were extracted, as were per-visit growth measurements, quantified developmental milestone assessments, and referral summary covariates. Only information that was available before the prediction age was used for training and evaluating the models. MAIN OUTCOME AND MEASURE: The main outcome was eligibility for a governmental disabled child allowance due to ASD, according to administrative data of the National Insurance Institute of Israel. The performance of the models that predict the outcome was evaluated and compared with previous work on the Modified Checklist for Autism in Toddlers (M-CHAT). RESULTS: The study included 1 187 397 children (610 588 [51.4%] male). The performance of the ASD prediction models improved with prediction age, with fair accuracy already at 12 months of age. A model that combined longitudinal measures of developmental milestone assessments with a minimal set of demographic variables, which was applied at 18 to 24 months of age, achieved an area under the receiver operating characteristic curve of 0.83, with a sensitivity of 45.1% at a specificity of 95.0%. A model using single-visit assessments achieved an area under the receiver operating characteristic curve of 0.81 and a sensitivity of 41.2% at a specificity of 95.0%. The best performing prediction models surpassed the pooled performance of M-CHAT (sensitivity, 40%; specificity, 95%) reported in studies with a similar design. CONCLUSIONS AND RELEVANCE: This cohort study found that ASD can be predicted from routine developmental surveillance data at an accuracy surpassing M-CHAT screening. This tool may be seamlessly integrated in the clinical workflow to improve early identification of children who may benefit from timely interventions.

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3. Chung WK, Herrera FF. Health supervision for children and adolescents with 16p11.2 deletion syndrome. Cold Spring Harb Mol Case Stud;2023 (Dec);9(4)

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.

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4. Columna L, Haegele JA, Barry A, Prieto L. « I Can Do It »: Perceived Competence of Parents of Autistic Children After Participating in a Physical Activity Intervention. J Phys Act Health;2024 (Jan 9):1-8.

BACKGROUND: Autistic children can benefit from physical activity (PA) in a variety of ways. However, autistic children tend not to meet PA recommendations and, consequently, may not experience the associated benefits. Parental PA support can facilitate PA participation among autistic children, but parents of autistic children may lack the skills to help their child engage in PA. Few studies, to date, have examined the outcomes of parent-mediated PA interventions for autistic children. The purpose of this study was to explore parents’ perceived behavioral control (PBC) to support their autistic children in PA after their participation in a PA intervention. METHODS: The theory of planned behavior served as the framework for this descriptive-qualitative investigation. Fifteen parents (each with 1 autistic child in the intervention) participated in semistructured interviews (3 wk after the intervention), which were transcribed and then analyzed using thematic line-by-line analysis. RESULTS: Three themes characterized the changes to parents’ PBC after completing the PA intervention. Those themes were: (1) I learned by son! (2) You are my coach! and (3) I can do it! CONCLUSIONS: The results showed that by participating in a parent-mediated PA intervention, parents experienced improved confidence and awareness of their child’s abilities, thus enhancing their PBC. Future research is needed to examine how these improvements in PBC may influence the actual PA behaviors of autistic children.

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5. Erdogan MA, Gurbuz O, Bozkurt MF, Erbas O. Prenatal Exposure to COVID-19 mRNA Vaccine BNT162b2 Induces Autism-Like Behaviors in Male Neonatal Rats: Insights into WNT and BDNF Signaling Perturbations. Neurochem Res;2024 (Jan 10)

The COVID-19 pandemic catalyzed the swift development and distribution of mRNA vaccines, including BNT162b2, to address the disease. Concerns have arisen about the potential neurodevelopmental implications of these vaccines, especially in susceptible groups such as pregnant women and their offspring. This study aimed to investigate the gene expression of WNT, brain-derived neurotrophic factor (BDNF) levels, specific cytokines, m-TOR expression, neuropathology, and autism-related neurobehavioral outcomes in a rat model. Pregnant rats received the COVID-19 mRNA BNT162b2 vaccine during gestation. Subsequent evaluations on male and female offspring included autism-like behaviors, neuronal counts, and motor performance. Molecular techniques were applied to quantify WNT and m-TOR gene expressions, BDNF levels, and specific cytokines in brain tissue samples. The findings were then contextualized within the extant literature to identify potential mechanisms. Our findings reveal that the mRNA BNT162b2 vaccine significantly alters WNT gene expression and BDNF levels in both male and female rats, suggesting a profound impact on key neurodevelopmental pathways. Notably, male rats exhibited pronounced autism-like behaviors, characterized by a marked reduction in social interaction and repetitive patterns of behavior. Furthermore, there was a substantial decrease in neuronal counts in critical brain regions, indicating potential neurodegeneration or altered neurodevelopment. Male rats also demonstrated impaired motor performance, evidenced by reduced coordination and agility. Our research provides insights into the effects of the COVID-19 mRNA BNT162b2 vaccine on WNT gene expression, BDNF levels, and certain neurodevelopmental markers in a rat model. More extensive studies are needed to confirm these observations in humans and to explore the exact mechanisms. A comprehensive understanding of the risks and rewards of COVID-19 vaccination, especially during pregnancy, remains essential.

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6. Field SL, Williams MO, Jones CRG, Fox JRE. A meta-ethnography of autistic people’s experiences of social camouflaging and its relationship with mental health. Autism;2024 (Jan 10):13623613231223036.

Some autistic people describe trying to hide autistic behaviour and seem more neurotypical. Researchers called this ‘social camouflaging’ and have linked it with mental health difficulties. We used a step-by-step approach to identify research where autistic people talk about social camouflaging to explore the relationship between camouflaging and poor mental health. Thirteen studies were combined. The results describe how society negatively impacts autistic people’s mental health, and camouflaging is a way to try and cope with this. Many autistic people find their camouflaging strategies have accidental negative consequences which also affect their mental health. Strategies which seemed ‘successful’ involved a lot of self-monitoring, were very mentally demanding or were very habitual and seemed to have more of an effect on mental health. This might be important for clinicians who support autistic people with mental health difficulties.

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7. Fram NR, Liu T, Lense MD. Social interaction links active musical rhythm engagement and expressive communication in autistic toddlers. Autism Res;2024 (Jan 10)

Rhythm is implicated in both social and linguistic development. Rhythm perception and production skills are also key vulnerabilities in neurodevelopmental disorders such as autism which impact social communication. However, direct links between musical rhythm engagement and expressive communication in autism is not clearly evident. This absence of a direct connection between rhythm and expressive communication indicates that the mechanism of action between rhythm and expressive communication may recruit other cognitive or developmental factors. We hypothesized that social interactions, including general interpersonal relationships and interactive music-making involving children and caregivers, were a significant such factor, particularly in autism. To test this, we collected data from parents of autistic and nonautistic children 14-36 months of age, including parent reports of their children’s rhythmic musical engagement, general social skills, parent-child musical interactions, and expressive communication skills. Path analysis revealed a system of independent, indirect pathways from rhythmic musical engagement to expressive communication via social skills and parent-child musical interactions in autistic toddlers. Such a system implies both that social and musical interactions represent crucial links between rhythm and language and that different kinds of social interactions play parallel, independent roles linking rhythmic musical engagement with expressive communication skills.

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8. Francis S, Tseng A, Rawls E, Conelea C, Grissom N, Kummerfeld E, Ma S, Jacob S. Integrating Causal Discovery and Clinically-Relevant Insights to Explore Directional Relationships between Autistic Features, Sex at Birth, and Cognitive Abilities. medRxiv;2023 (Dec 24)

Prevalence in autism spectrum disorder (ASD) diagnosis has long been strongly male-biased. Yet, consensus has not been reached on mechanisms and clinical features that underlie sex-based discrepancies. Whereas females may be under-diagnosed because of inconsistencies in diagnostic/ascertainment procedures (sex-biased criteria, social camouflaging), diagnosed males may have exhibited more overt behaviors (e.g., hyperactivity, aggression) that prompted clinical evaluation. Applying a novel network-theory-based approach, we extracted data-driven, clinically-relevant insights from a large, well-characterized sample (Simons Simplex Collection) of 2175 autistic males (Ages = 8.9±3.5 years) and 334 autistic females (Ages = 9.2±3.7 years). Exploratory factor analysis (EFA) and expert clinical review reduced data dimensionality to 15 factors of interest. To offset inherent confounds of an imbalanced sample, we identified a subset of males (N=331) matched to females on key variables (Age, IQ) and applied data-driven CDA using Greedy Fast Causal Inference (GFCI) for three groups (All Females, All Males, and Matched Males). Structural equation modeling (SEM) extracted measures of model fit and effect sizes for causal relationships between sex, age, and, IQ on EFA-selected factors capturing phenotypic representations of autism across sensory, social, and restricted and repetitive behavior domains. Our methodology unveiled sex-specific directional relationships to inform developmental outcomes and targeted interventions.

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9. Gupta P, Spoorthy MS, Raikar PR. Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review. Prim Care Companion CNS Disord;2024 (Jan 4);26(1)

Importance: Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems and causes a wide range of physical manifestations. It commonly involves the brain, skin, heart, eyes, kidneys, and lungs. Individuals mostly present with neuropsychiatric symptoms, comprising a noteworthy source of morbidity and mortality. Observation: Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and undertreated. Conclusion and Relevance: Lack of specific guidelines for management add to the significant burden of care. An individualized, multifaceted perspective, with particular focus on cognitive and psychosocial comorbidities, is key for managing tuberous sclerosis. Prim Care Companion CNS Disord 2024;26(1):22nr03481. Author affiliations are listed at the end of this article.

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10. Harris ST, Schieve LA, Drews-Botsch C, DiGuiseppi C, Tian LH, Soke GN, Bradley CB, Windham GC. Pregnancy Planning and its Association with Autism Spectrum Disorder: Findings from the Study to Explore Early Development. Matern Child Health J;2024 (Jan 10)

OBJECTIVES: To examine associations between pregnancy planning and autism spectrum disorder (ASD) in offspring. METHODS: The Study to Explore Early Development (SEED), a multi-site case-control study, enrolled preschool-aged children with ASD, other DDs, and from the general population (POP). Some children with DDs had ASD symptoms but did not meet the ASD case definition. We examined associations between mother’s report of trying to get pregnant (pregnancy planning) and (1) ASD and (2) ASD symptomatology (ASD group, plus DD with ASD symptoms group combined) (each vs. POP group). We computed odds ratios adjusted for demographic, maternal, health, and perinatal health factors (aORs) via logistic regression. Due to differential associations by race-ethnicity, final analyses were stratified by race-ethnicity. RESULTS: Pregnancy planning was reported by 66.4%, 64.8%, and 76.6% of non-Hispanic White (NHW) mothers in the ASD, ASD symptomatology, and POP groups, respectively. Among NHW mother-child pairs, pregnancy planning was inversely associated with ASD (aOR = 0.71 [95% confidence interval 0.56-0.91]) and ASD symptomatology (aOR = 0.67 [0.54-0.84]). Pregnancy planning was much less common among non-Hispanic Black mothers (28-32% depending on study group) and Hispanic mothers (49-56%) and was not associated with ASD or ASD symptomatology in these two race-ethnicity groups. CONCLUSION: Pregnancy planning was inversely associated with ASD and ASD symptomatology in NHW mother-child pairs. The findings were not explained by several adverse maternal or perinatal health factors. The associations observed in NHW mother-child pairs did not extend to other race-ethnicity groups, for whom pregnancy planning was lower overall.

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11. Lang J, Wylie G, Haig C, Gillberg C, Minnis H. Towards system redesign: An exploratory analysis of neurodivergent traits in a childhood population referred for autism assessment. PLoS One;2024;19(1):e0296077.

BACKGROUND: Children’s health services in many countries are moving from single condition diagnostic silo assessments to considering neurodevelopment in a more holistic sense. There has been increasing recognition of the importance of clinical overlap and co-occurrence of different neurotypes when assessing neurodivergent children. Using a cross-sectional service evaluation design, we investigated the overlap of neurodivergences in a cohort of children referred for autism assessment, focusing on motor, learning, and attention/activity level domains. We aimed to determine what proportion of children in a cohort referred for an autism assessment showed traits of additional neurodivergences, and what proportion were further investigated. METHODS: We evaluated anonymised medical records of children aged between two and 17 years referred for autism assessment. We used validated questionnaires to assess for neurodivergent traits. A weighted scoring system was developed to determine traits in each neurodevelopmental domain and a score above the median was considered to indicate a neurodivergent trait. Evidence of further investigations were recorded. We then examined the relationships between autism traits and traits of additional neurodivergence. RESULTS: 114 participants were included for evaluation. 62.3% (n = 71) had completed questionnaires for analysis. Of these, 71.8% (n = 51) scored greater than the median for at least one additional neurotype, indicating the presence of other neurodivergent traits, and 88.7% (n = 64) attracted a diagnosis of autism. Only 26.3% of children with evidence of additional neurotypes were further investigated beyond their autism assessment. CONCLUSIONS: Our results demonstrate the extensive overlap between additional neurodivergent traits in a population of children referred with suspected autism and show that only a small proportion were further investigated. The use of standardised questionnaires to uncover additional neurodivergences may have utility in improving the holistic nature of neurodevelopmental assessments.

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12. Langenbach BP, Grotegerd D, Mulders PCR, Tendolkar I, van Oort J, Duyser F, van Eijndhoven P, Vrijsen JN, Dannlowski U, Kampmann Z, Koelkebeck K. Autistic and non-autistic individuals show the same amygdala activity during emotional face processing. Mol Autism;2024 (Jan 10);15(1):2.

BACKGROUND: Autistic and non-autistic individuals often differ in how they perceive and show emotions, especially in their ability and inclination to infer other people’s feelings from subtle cues like facial expressions. Prominent theories of autism have suggested that these differences stem from alterations in amygdala functioning and that amygdala hypoactivation causes problems with emotion recognition. Thus far, however, empirical investigations of this hypothesis have yielded mixed results and largely relied on relatively small samples. METHODS: In a sample of 72 autistic and 79 non-autistic participants, we conducted a study in which we used the Hariri paradigm to test whether amygdala activation during emotional face processing is altered in autism spectrum disorder, and whether common mental disorders like depression, ADHD or anxiety disorders influence any potential alterations in activation patterns. RESULTS: We found no evidence for differences in amygdala activation, neither when comparing autistic and non-autistic participants, nor when taking into account mental disorders or the overall level of functional impairment. LIMITATIONS: Because we used one basic emotion processing task in a Dutch sample, results might not generalise to other tasks and other populations. CONCLUSIONS: Our results challenge the view that autistic and non-autistic processing of emotional faces in the amygdala is vastly different and call for a more nuanced view of differences between non-autistic and autistic emotion processing.

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13. Lenders M, Ouwens MA, Wilting R, Videler AC. First things first: An exploration of the effects of psychoeducation for older autistic adults. Autism;2024 (Jan 10):13623613231219745.

After receiving an autism diagnosis, psychoeducation (i.e. information regarding autism) is a first intervention. We adjusted a psychoeducation program that was originally developed by the Dutch Association for Autism for older adults to enhance its feasibility and efficacy in later life. We expected that participants would report an increase in knowledge and acceptance of the diagnosis and that people close to them would also observe this. Indeed, we found this and participants and those close to them agreed on this. Furthermore, we found some evidence that older autistic adults were better at coping with their autism. We found no positive intervention effects on psychological distress. The feedback of participants and informants about the psychoeducation program was largely positive. In future research, we advise using larger group samples and larger time scales and we also advise to further adjust the program to the needs and requirements of older adults, and to help older autistic adults to construct a new narrative of themselves, and the life they have lived, in the light of the recent autism diagnosis.

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14. Mazzone L, Dooling SW, Volpe E, Uljarević M, Waters JL, Sabatini A, Arturi L, Abate R, Riccioni A, Siracusano M, Pereira M, Engstrand L, Cristofori F, Adduce D, Francavilla R, Costa-Mattioli M, Hardan AY. Precision microbial intervention improves social behavior but not autism severity: A pilot double-blind randomized placebo-controlled trial. Cell Host Microbe;2024 (Jan 10);32(1):106-116.e106.

Autism spectrum disorder (ASD) is characterized by the presence of restricted/repetitive behaviors and social communication deficits. Because effective treatments for ASD remain elusive, novel therapeutic strategies are necessary. Preclinical studies show that L. reuteri selectively reversed social deficits in several models for ASD. Here, in a double-blind, randomized, placebo-controlled trial, we tested the effect of L. reuteri (a product containing a combination of strains ATCC-PTA-6475 and DSM-17938) in children with ASD. The treatment does not alter overall autism severity, restricted/repetitive behaviors, the microbiome composition, or the immune profile. However, L. reuteri combination yields significant improvements in social functioning that generalized across different measures. Interestingly, ATCC-PTA-6475, but not the parental strain of DSM-17938, reverses the social deficits in a preclinical mouse model for ASD. Collectively, our findings show that L. reuteri enhances social behavior in children with ASD, thereby warranting larger trials in which strain-specific effects should also be investigated.

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15. Moore TR, Lee S, Freeman R, Mahmoundi M, Dimian A, Riegelman A, Simacek JJ. A Meta-Analysis of Treatment for Self-Injurious Behavior in Children and Adolescents With Intellectual and Developmental Disabilities. Behav Modif;2024 (Jan 10):1454455231218742.

Self-injurious behavior (SIB) among children and youth with developmental disabilities has not diminished in prevalence despite the availability of effective interventions, and the impact on quality of life for people and their families is devastating. The current meta-analysis reviews SIB intervention research between 2011 and 2021 using single-case experimental designs with children and youth up to 21 years old and provides a quantitative synthesis of data from high-quality studies including moderator analyses to determine effects of participant and study characteristics on intervention outcomes. Encouraging findings include a high level of effectiveness across studies in the decrease of SIB (Tau-U = -0.90) and increase of positive behavior (Tau-U = 0.73), as well as an increase in studies (relative to prior reviews) reporting intervention fidelity, generalization, maintenance, and social validity. However, our findings shed limited light on potential moderating variables in the development of interventions for children and youth who exhibit SIB. Of the potential moderators of intervention effects, only implementer (researcher/therapist vs. parent/caregiver) and setting (clinic vs. home) were significantly associated with improved outcomes. We discuss the need for more robust involvement of natural communities of implementers in SIB intervention research to better equip them to effectively and sustainably meet the needs of people they care for. We also discuss the importance of creating systems enabling broad access for children with SIB to effective interventions in service of reducing burden for people, families, and society over time.

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16. Mykins M, Bridges B, Jo A, Krishnan K. Multidimensional analysis of a social behavior identifies regression and phenotypic heterogeneity in a female mouse model for Rett syndrome. J Neurosci;2024 (Jan 10)

Regression is a key feature of neurodevelopmental disorders such as Autism Spectrum Disorder, Fragile X Syndrome and Rett syndrome (RTT). RTT is caused by mutations in the X-linked gene Methyl CpG-Binding Protein 2 (MECP2). It is characterized by an early period of typical development with subsequent regression of previously acquired motor and speech skills in girls. The syndromic phenotypes are individualistic and dynamic over time. Thus far, it has been difficult to capture these dynamics and syndromic heterogeneity in the preclinical Mecp2-heterozygous female mouse model (Het). The emergence of computational neuroethology tools allows for robust analysis of complex and dynamic behaviors to model endophenotypes in pre-clinical models. Towards this first step, we utilized DeepLabCut, a marker-less pose estimation software to quantify trajectory kinematics, and multidimensional analysis to characterize behavioral heterogeneity in Het in the previously benchmarked, ethologically relevant social cognition task of pup retrieval. We report the identification of two distinct phenotypes of adult Het: Het that display a delay in efficiency in early days and then improve over days like wild-type mice, and Het that regress and perform worse in later days. Furthermore, regression is dependent on age, behavioral context, and is identifiable in early days of retrieval. Together, the novel identification of two populations of Het suggests differential effects on neural circuitry, opens new avenues to investigate the underlying molecular and cellular mechanisms of heterogeneity, and design better studies for stratifying therapeutics.Significance Statement A long-standing problem in the field of neuropsychiatric disorders is the reliable identification of heterogeneous endophenotypes in animal models for the disorders. This problem has clear implications in identifying etiology and therapeutic targets. The emergence of accessible computational neuroethology tools is a powerful solution in systematic characterization of animal behaviors in resolving this heterogeneity. Using DeepLabCut and multidimensional analysis of an ethologically relevant social cognition task, we identify two distinct populations exhibiting delay in efficient behavior and regression in a female mouse model for Rett syndrome. The novel identification of two populations in genotypically-identical mice has profound implications on both etiology and personalized therapeutic approaches.

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17. Sprengers JJ, Geertjens L, Bruining H. Mechanism-based interventions for ASD cannot be implemented using conventional trial designs. Autism Res;2024 (Jan 10)

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18. Wu D, Wolff JJ, Ravi S, Elison JT, Estes A, Paterson S, St John T, Abdi H, Moraglia LE, Piven J, Swanson MR. Infants who develop autism show smaller inventories of deictic and symbolic gestures at 12 months of age. Autism Res;2024 (Jan 10)

Gestures are an important social communication skill that infants and toddlers use to convey their thoughts, ideas, and intentions. Research suggests that early gesture use has important downstream impacts on developmental processes, such as language learning. However, autistic children are more likely to have challenges in their gestural development. The current study expands upon previous literature on the differences in gesture use between young autistic and non-autistic toddlers by collecting data using a parent-report questionnaire called the MCDI-Words and Gestures at three time points, 12, 18, and 24 months of age. Results (N = 467) showed that high-likelihood infants who later met diagnostic criteria for ASD (n = 73 HL-ASD) have attenuated gesture growth from 12 to 24 months for both deictic gestures and symbolic gestures when compared to high-likelihood infants who later did not meet criteria for ASD (n = 249 HL-Neg) and low-likelihood infants who did not meet criteria for ASD (n = 145 LL-Neg). Other social communicative skills, like play behaviors and imitation, were also found to be impacted in young autistic children when compared to their non-autistic peers. Understanding early differences in social communication growth before a formal autism diagnosis can provide important insights for early intervention.

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19. Yenkoyan K, Mkhitaryan M, Bjørklund G. Environmental Risk Factors in Autism Spectrum Disorder: A Narrative Review. Curr Med Chem;2024 (Jan 10)

Existing evidence indicates that environmental factors might contribute up to 50% of the variance in autism spectrum disorder (ASD) risk. This structured narrative review offers a comprehensive synthesis of current knowledge on environmental risk factors in ASD, including evaluation of conflicting evidence, exploration of underlying mechanisms, and suggestions for future research directions. Analysis of diverse epidemiological investigations indicates that certain environmental factors, including advanced parental age, preterm birth, delivery complications, and exposure to toxic metals, drugs, air pollutants, and endocrine-disrupting chemicals, are linked to an increased ASD risk through various mechanisms such as oxidative stress, inflammation, hypoxia, and its consequences, changes in neurotransmitters, disruption of signaling pathways and some others. On the other hand, pregnancy-related factors such as maternal diabetes, maternal obesity, and caesarian section show a weaker association with ASD risk. At the same time, other environmental factors, such as vaccination, maternal smoking, or alcohol consumption, are not linked to the risk of ASD. Regarding nutritional elements data are inconclusive. These findings highlight the significance of environmental factors in ASD etiology and emphasize that more focused research is needed to target the risk factors of ASD. Environmental interventions targeting modifiable risk factors might offer promising avenues for ASD prevention and treatment.

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