1. Alijanzadeh M, RajabiMajd N, RezaeiNiaraki M, Griffiths MD, Alimoradi Z. Prevalence and socio-economic determinants of growth and developmental delays among Iranian children aged under five years: A cross sectional study. BMC Pediatr. 2024; 24(1): 412.

BACKGROUND: The main cause of growth and development delays remains unknown, but it can occur as an interaction between genetic, environmental, and socio-economic factors. OBJECTIVE: The aim of the study was to investigate the prevalence and social determinants of growth and developmental delays among children aged under five years in Qazvin, Iran. METHODS: A cross-sectional study was conducted between January 2019 to December 2020 with participation of 1800 mothers with children aged 4-60 months who were referred to comprehensive health centers in Qazvin city, Iran. Structural and intermediate social determinants of health were assessed including: parents and children socio-demographic characteristics, families’ living and economic status, parents’ behavioral factors, household food security, mother’s general health, and perceived social support. Children’s growth was assessed based on their anthropometric assessment and their development was assessed using their age-specific Ages and Stages Questionnaire. Data were analyzed using univariable and multivariable logistic regression models using SPSS software version 24 and Stata version 14. RESULTS: The prevalence of developmental problems in each domain were 4.28% for personal and social delay, 5.72% for gross motor delay, 6.5% for communication delay, 6.72% for fine motor delay, and 8% for problem-solving delay. The prevalence of weight growth delays was 13.56% and height growth delays was 4.66%. Communication, gross motor, and problem-solving delays were higher among children whose fathers’ smoked cigarettes. Fine motor delays were lower among mothers with education status of high school diploma and university degree vs. the under diploma group. Personal and social delay was significantly higher among families with fair economic status and lower among children when their fathers were employed (vs. unemployed). Weight and height growth delays were higher among mothers who had experienced pregnancy complications and household food insecure families, respectively. CONCLUSION: There are different predictors of growth and developmental delay problems among Iranian children aged under five years including fathers’ smoking, families’ economic status, and household food insecurity as well as history of mothers’ pregnancy complications. The present study’s findings can be used to screen for at-risk of growth and developmental delays among children and could help in designing and implementation of timely interventions.

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2. Alispahic S, Pellicano E, Cutler A, Antoniou M. Multiple talker processing in autistic adult listeners. Sci Rep. 2024; 14(1): 14698.

Accommodating talker variability is a complex and multi-layered cognitive process. It involves shifting attention to the vocal characteristics of the talker as well as the linguistic content of their speech. Due to an interdependence between voice and phonological processing, multi-talker environments typically incur additional processing costs compared to single-talker environments. A failure or inability to efficiently distribute attention over multiple acoustic cues in the speech signal may have detrimental language learning consequences. Yet, no studies have examined effects of multi-talker processing in populations with atypical perceptual, social and language processing for communication, including autistic people. Employing a classic word-monitoring task, we investigated effects of talker variability in Australian English autistic (n = 24) and non-autistic (n = 28) adults. Listeners responded to target words (e.g., apple, duck, corn) in randomised sequences of words. Half of the sequences were spoken by a single talker and the other half by multiple talkers. Results revealed that autistic participants’ sensitivity scores to accurately-spotted target words did not differ to those of non-autistic participants, regardless of whether they were spoken by a single or multiple talkers. As expected, the non-autistic group showed the well-established processing cost associated with talker variability (e.g., slower response times). Remarkably, autistic listeners’ response times did not differ across single- or multi-talker conditions, indicating they did not show perceptual processing costs when accommodating talker variability. The present findings have implications for theories of autistic perception and speech and language processing.

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3. Ben-Sasson A, Guedalia J, Ilan K, Shefer G, Cohen R, Gabis LV. Early developmental milestone clusters of autistic children based on electronic health records. Autism Res. 2024.

Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits. K-means cluster analysis detected four EDM clusters: mild (n = 1686); moderate (n = 1691); severe (n = 2265); and global (n = 194). The most prominent cluster differences were in the language domain. The global cluster showed earlier and greater developmental delay across domains, unique early gross motor delays, and more were born preterm via cesarean section. The severe cluster had poor language development prominently in the second year of life, and later fine motor delays. Moderate cluster had mainly language delays in the third year of life. The mild cluster mostly passed milestones. EDM clusters differed demographically, with higher socioeconomic status in mild cluster and lowest in global cluster. However, the severe cluster had more immigrant and non-Jewish mothers followed by the moderate cluster. The rates of parental concerns and provider developmental referrals were significantly higher in the global, followed by the severe, moderate, and mild EDM clusters. Autistic children’s language and motor delay in the first 3 years can be grouped by common magnitude and onset profiles as distinct groups that may link to specific etiologies (like prematurity or genetics) and specific intervention programs. Early autism screening should be tailored to these different developmental profiles.

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4. Benseny Delgado E, Peñate Castro W, Díaz Megolla A. Relationship between Parenting Educational Styles and Well-Being in Families with Autistic Children: A Systematic Review. Eur J Investig Health Psychol Educ. 2024; 14(6): 1527-42.

The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The purpose of this paper is to review the recent literature on other variables related to family well-being, such as parenting styles. We conducted a systematic review using the PRISMA check list and bias assessment with the aim of analyzing if the concepts of autism, well-being and parenting style are related. We screened 755 references from relevant databases like Scopus, Pubmed, PscyInfo EBSCO, Web of Science and Dialnet, updated on May 2024. Sixteen full text articles and abstracts were read. It was identified that the authoritative parenting style, as well as those based on warmth, establishing relationships and emotional bonding, and low expressed emotion were positively related to family well-being. On the other hand, authoritarian, permissive and overprotective styles, as well as critical, punishing and training-based, were negatively associated with well-being and quality of family life.

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5. Bragg MG, Gorski-Steiner I, Song A, Chavarro JE, Hart JE, Tabb LP, Weisskopf MG, Volk H, Lyall K. Prenatal air pollution and children’s autism traits score: Examination of joint associations with maternal intake of vitamin D, methyl donors, and polyunsaturated fatty acids using mixture methods. Environ Epidemiol. 2024; 8(4): e316.

BACKGROUND: Maternal nutrient intake may moderate associations between environmental exposures and children’s neurodevelopmental outcomes, but few studies have assessed joint effects. We aimed to evaluate whether prenatal nutrient intake influences the association between air pollutants and autism-related trait scores. METHODS: We included 126 participants from the EARLI (Early Autism Risk Longitudinal Investigation, 2009-2012) cohort, which followed US pregnant mothers who previously had a child with autism. Bayesian kernel machine regression and traditional regression models were used to examine joint associations of prenatal nutrient intake (vitamins D, B12, and B6; folate, choline, and betaine; and total omega 3 and 6 polyunsaturated fatty acids, reported via food frequency questionnaire), air pollutant exposure (particulate matter <2.5 μm [PM(2.5)], nitrogen dioxide [NO(2)], and ozone [O(3)], estimated at the address level), and children's autism-related traits (measured by the Social Responsiveness Scale [SRS] at 36 months). RESULTS: Most participants had nutrient intakes and air pollutant exposures that met US standards. Bayesian kernel machine regression mixture models and traditional regression models provided little evidence of individual or joint associations of nutrients and air pollutants with SRS scores or of an association between the overall mixture and SRS scores. CONCLUSION: In this cohort with a high familial likelihood of autism, we did not observe evidence of joint associations between air pollution exposures and nutrient intake with autism-related traits. Future work should examine the use of these methods in larger, more diverse samples, as our results may have been influenced by familial liability and/or relatively high nutrient intakes and low air pollutant exposures.

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6. Chong SC, Ho FLY. Promoting evidence-based care for children and adolescents on the autism spectrum. Ann Acad Med Singap. 2024; 53(4): 219-21.

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7. D’Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Van Meel K, Buys A, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Van der Aa N, Van Dijck A, Kooy RF, Berghe WV. Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients. Sci Rep. 2024; 14(1): 14710.

Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP mRNA in patient blood. In this study, wild-type and ADNP mutants are investigated at the protein level and therefore optimal detection of the protein is required. Detection of ADNP by means of western blotting has been ambiguous with reported antibodies resulting in non-specific bands without unique ADNP signal. Validation of an N-terminal ADNP antibody (Aviva Systems) using a blocking peptide competition assay allowed to differentiate between specific and non-specific signals in different sample materials, resulting in a unique band signal around 150 kDa for ADNP, above its theoretical molecular weight of 124 kDa. Detection with different C-terminal antibodies confirmed the signals at an observed molecular weight of 150 kDa. Our antibody panel was subsequently tested by immunoblotting, comparing parental and homozygous CRISPR/Cas9 endonuclease-mediated Adnp knockout cell lines and showed disappearance of the 150 kDa signal, indicative for intact ADNP. By means of both a GFPSpark and Flag-tag N-terminally fused to a human ADNP expression vector, we detected wild-type ADNP together with mutant forms after introduction of patient mutations in E. coli expression systems by site-directed mutagenesis. Furthermore, we were also able to visualize endogenous ADNP with our C-terminal antibody panel in heterozygous cell lines carrying ADNP patient mutations, while the truncated ADNP mutants could only be detected with epitope-tag-specific antibodies, suggesting that addition of an epitope-tag possibly helps stabilizing the protein. However, western blotting of patient-derived hiPSCs, immortalized lymphoblastoid cell lines and post-mortem patient brain material failed to detect a native mutant ADNP protein. In addition, an N-terminal immunoprecipitation-competent ADNP antibody enriched truncating mutants in overexpression lysates, whereas implementation of the same method failed to enrich a possible native mutant protein in immortalized patient-derived lymphoblastoid cell lines. This study aims to shape awareness for critical assessment of mutant ADNP protein analysis in Helsmoortel-Van der Aa syndrome.

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8. Dallman A. Affective Contact in Autism: A Phenomenological Study of the Emotional Experiences of Autistic Adults. Am J Occup Ther. 2024; 78(4).

IMPORTANCE: Since the first descriptions of autism, difficulties with affective contact (e.g., interpersonal exchanges of feelings between individuals) have been considered a common feature of autism spectrum disorder, and these difficulties frequently manifest in occupational therapy interventions. OBJECTIVE: To (1) explore how autistic young adults describe their emotions and (2) suggest ways to improve the affective contact between autistic clients and their therapists. DESIGN: Virtual focus group interviews. SETTING: Online (Qualtrics) survey and Zoom focus groups. PARTICIPANTS: Autistic adults (N = 24) who met the following inclusion criteria: self-reported diagnosis of autism spectrum disorder or Asperger syndrome, age 18-35 yr, able to understand English, and able to participate in a focus group or individual interview using verbal or written communication. RESULTS: Two themes were noted and are presented in this article: (1) Autistic people experience complex emotions and (2) autistic people’s emotions are often (mis)measured and (mis)understood. CONCLUSIONS AND RELEVANCE: The findings indicate that autistic people experience diverse, complex, and intense emotions and that these are connected to occupation. This suggests that occupational therapists must be attuned to the emotional dimension of occupation when working with autistic clients and that autistic clients may benefit from the use of embodied language to reference their emotions. Occupational therapists can help autistic clients recognize their bodily changes when experiencing emotions and to better identify and regulate their emotions. The results also show that there were many cases nonautistic people misinterpreted the emotions of autistic people on the basis of their facial expressions or words. Plain-Language Summary: This article provides information about the emotional experiences of autistic people. The study found that autistic people experience complex emotions and that those emotions are often misinterpreted or misunderstood. The author provides information on how occupational therapists can use a neurodiversity-affirming and person-centered approach to support the emotional experiences of people in the autism community. Positionality Statement: In this article, identity-first language is used when referring to autistic adults. This deliberate choice aligns with the principles of the neurodiversity-affirming movement. Autistic self-advocates have indicated a preference for this style of language over person-first language. The author would also like to acknowledge their positionality. As both a neurodivergent researcher and a self-advocate for the disabled community, this style of language aligns with their own experiences of and beliefs about their disability.

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9. Desroches ML, Stych J, Bannett G, Guttentag R, Ailey SH, Fisher K. Establishing Best Practices in Telehealth Care for Adults with Developmental Disabilities in the United States: An e-Delphi Study. Telemed J E Health. 2024.

Background: Telehealth care is now a key element of mainstream health care since the COVID-19 pandemic, with all types of health care providers joining the digital revolution. As a population experiencing health care disparities, adults with developmental disabilities and their supporters have described variable experiences with telehealth care that contribute to overall care quality and health outcomes. Methods: This e-Delphi study established consensus on best practices in telehealth care for adults with developmental disabilities in the United States. Online surveys and videoconferencing interviews were conducted with 44 expert panelists with experience with telehealth care and developmental disabilities, including adults with developmental disabilities, family members, direct support professionals, nurses, and health care providers. Results: Three rounds of surveys resulted in a set of 9 guidelines consisting of 42 items. The guidelines addressed 1) appropriate situations for telehealth care, 2) communication needs and preferences, 3) support person collaboration, 4) education and anticipatory guidance, 5) reminders, 6) coordination of care, 7) equitable and fair access, 8) privacy and safety, and 9) evidence-based practice. Conclusion: Health care providers can adopt these best practice guidelines to ensure telehealth care is provided equitably and safely to adults with developmental disabilities. Policy advocacy is needed for the uptake of these guidelines and for health care providers and adults with developmental disabilities to access the resources needed for safe and effective telehealth care use.

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10. Ham LM, Staunton H, Schulz JM, Tillmann J, Volz D, Murtagh L, Chatham C, O’Connor EC, Chamberlain S, Schoenenberger P, Pandina G, Wang P, Kas MJH, Arango C, Murphy D. Points to consider when initiating clinical investigations in autistic paediatric populations-A White Paper. Eur Neuropsychopharmacol. 2024; 86: 35-42.

Many individuals with autism spectrum disorder (ASD) experience various degrees of impairment in social interaction and communication, restricted, repetitive behaviours, interests/activities. These impairments make a significant contribution to poorer everyday adaptive functioning. Yet, there are no pharmacological therapies to effectively treat the core symptoms of ASD. Since symptoms of ASD likely emerge from a complex interplay of vulnerabilities, environmental factors and compensatory mechanisms during the early developmental period, pharmacological interventions arguably would have the greatest impact to improve long-term outcomes when implemented at a young age. It is essential therefore, that clinical development programmes of investigational drugs in ASD include the paediatric population early on in clinical trials. Such trials need to offer the prospect of direct benefit (PDB) for participants. In most cases in drug development this prospect is supported by evidence of efficacy in adults. However, the effectiveness of treatment approaches may be age-dependent, so that clinical trials in adults may not provide sufficient evidence for a PDB in children. In this white paper, we consolidate recommendations from regulatory guidelines, as well as advice from the Food and Drug Administration, USA (FDA) and the Committee for Human Medicinal Products (CHMP) consultations on various development programmes on: 1) elements to support a PDB to participants in early paediatric clinical trials in ASD, including single-gene neurodevelopment disorders, 2) aspects of study design to allow for a PDB. This white paper is intended to be complementary to existing regulatory guidelines in guiding industry and academic sponsors in their conduct of early paediatric clinical trials in ASD.

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11. He C, Zhou H, Chen L, Liu Z. NEAT1 Promotes Valproic Acid-Induced Autism Spectrum Disorder by Recruiting YY1 to Regulate UBE3A Transcription. Mol Neurobiol. 2024.

Evidence suggests that long non-coding RNAs (lncRNAs) play a significant role in autism. Herein, we explored the functional role and possible molecular mechanisms of NEAT1 in valproic acid (VPA)-induced autism spectrum disorder (ASD). A VPA-induced ASD rat model was constructed, and a series of behavioral tests were performed to examine motor coordination and learning-memory abilities. qRT-PCR and western blot assays were used to evaluate target gene expression levels. Loss-and-gain-of-function assays were conducted to explore the functional role of NEAT1 in ASD development. Furthermore, a combination of mechanistic experiments and bioinformatic tools was used to assess the relationship and regulatory role of the NEAT1-YY1-UBE3A axis in ASD cellular processes. Results showed that VPA exposure induced autism-like developmental delays and behavioral abnormalities in the VPA-induced ASD rat model. We found that NEAT1 was elevated in rat hippocampal tissues after VPA exposure. NEAT1 promoted VPA-induced autism-like behaviors and mitigated apoptosis, oxidative stress, and inflammation in VPA-induced ASD rats. Notably, NEAT1 knockdown improved autism-related behaviors and ameliorated hippocampal neuronal damage. Mechanistically, it was observed that NEAT1 recruited the transcription factor YY1 to regulate UBE3A expression. Additionally, in vitro experiments further confirmed that NEAT1 knockdown mitigated hippocampal neuronal damage, oxidative stress, and inflammation through the YY1/UBE3A axis. In conclusion, our study demonstrates that NEAT1 is highly expressed in ASD, and its inhibition prominently suppresses hippocampal neuronal injury and oxidative stress through the YY1/UBE3A axis, thereby alleviating ASD development. This provides a new direction for ASD-targeted therapy.

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12. Klein CB, Klinger LG. Aging Well and Autism: A Narrative Review and Recommendations for Future Research. Healthcare (Basel). 2024; 12(12).

With autism first recognized in the 1940s, the early cohorts of autistic children are beginning to enter older adulthood. Little is known about the experiences and outcomes of autistic older adults. In the general population, « successful aging » is a dominant model among gerontologists and is used to evaluate outcomes in older adulthood. This narrative review aims to provide a framework for understanding and supporting successful aging in older autistic adults. Using Fernández-Ballesteros’ four-domain model of « aging well » we review knowledge on aging and autism by examining outcomes in health and functioning, cognitive and physical functioning, positive affect and control, and social participation and engagement. Findings indicate that outcomes in autistic older adults are generally poor, marked by increased medical conditions, low adaptive skills, elevated risk of cognitive decline, limited physical activity, high rates of mental health conditions, low quality of life, and reduced social or community participation. Patterns of challenges are similar across cognitive abilities and profiles of autistic traits. Challenges and next steps in aging and autism research are identified, and future directions for the field are discussed.

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13. Krzysztofik K. Does a high threshold of sensory responsiveness affect the development of pretend play in children on the autism spectrum?. J Neurodev Disord. 2024; 16(1): 34.

BACKGROUND: Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the relationship of sensory responsiveness in children on the autism spectrum to their motor, cognitive and social development. Current research reports combines the responsiveness to sensory stimuli also with the development of pretend play. Aim of this study was to verify the relationship between the level of development of pretend play and the level of sensory responsiveness in children on the autism spectrum. METHODS: A study was conducted in a group of 63 children with a diagnosis of autism spectrum aged from 3 years and 7 months to 9 years and 3 months using: Pretend Play subscale from the Theory of Mind Mechanism Scale and Sensory Experiences Questionnaire version 2.1. RESULTS: The results revealed that elevated sensory hyporesponsiveness predicted low pretend play skills in the group of participating children. CONCLUSION: The study verified the contribution of the level of sensory hyporesponsiveness to explaining the atypical development of pretend play in children on the autism spectrum.

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14. Lai YYL, Downs J, Leishman S, Leonard HM, Walsh LJ, Zafar S. qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome. Eur Arch Paediatr Dent. 2024.

PURPOSE: This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. METHODS: Supragingival dental plaque samples were collected, using a sterile swab, (COPAN FLOQswab™) swabbed onto Whatman FTA™ cards. DNA extraction was performed using a modified Powersoil™ protocol. Where published assays were unsuitable, species-specific qPCR assays for caries-associated, gingivitis-associated and oral-health-associated bacteria were designed using multiple sequence alignment, Primer3Plus and PrimerQuest. Assays were run using absolute quantification. Limit of detection (LOD) and limit of quantification (LOQ) were calculated, and PCR products verified by Sanger sequencing. RESULTS: Most assays allowed detection using real-time qPCR with high specificity on samples collected on FTA cards. Several assays showed low or even single gene copy numbers on the test samples. CONCLUSION: Assays were optimised for detection and evaluation of oral health risk in dental plaque samples stored on FTA cards when cold storage is not feasible, except for F. nucleatum. Several assays showed gene copy numbers less than the LOQ or outside the range of the standard curve, so there is merit in optimising these assays using digital droplet PCR.

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15. Lebeña A, Faresjö Å, Jones MP, Bengtsson F, Faresjö T, Ludvigsson J. Early environmental predictors for attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and their co-occurrence: The prospective ABIS-Study. Sci Rep. 2024; 14(1): 14759.

ADHD and ASD are highly heritable and show a high co-occurrence and persistence into adulthood. This study aimed to identify pre and perinatal risk factors, and early psychosocial exposures related to later diagnosis of ADHD, ASD, and their co-occurrence. 16,365 children born 1997-1999 and their families, involved in the prospective population-based ABIS study (All Babies in Southeast Sweden), were included in this sub-study. Pre and perinatal factors and early environmental psychosocial exposures were collected from parental-questionnaires at birth and 1-year follow-up. Diagnoses from birth up to 23 years of age were obtained from the Swedish National Diagnosis Register in 2020. The cumulative incidence of ADHD, ASD, and their co-occurrence in the ABIS-cohort Study were 4.6%, 1.7%, and 1.1%, respectively. Being male was associated with an increased risk for ADHD, ASD, and their co-occurrence (aOR 1.30, 1.56, and 1.91, respectively), while higher household income reduced it (aOR 0.82, 0.73, and 0.64). Serious life events during pregnancy (aOR 1.40) and maternal smoking (aOR 1.51) increased the risk of ADHD, while older maternal age (aOR 0.96), higher parental education (aOR 0.72 maternal and aOR 0.74 paternal) and longer exclusive breastfeeding (aOR 0.72) reduced it. Non-Swedish paternal nationality (aOR 0.40) and higher maternal education (aOR 0.74) were associated with a lower risk of ASD, while a family history of autoimmune diseases increased the risk of the co-occurrence of both disorders (aOR 1.62). Obtained results suggest that the etiology of ADHD, ASD, and their co-occurrence is independently associated with environmental psychosocial predictors. The co-occurrence seems to overlap the etiology of ADHD, in which psychosocial determinants have a larger role, however, it is also independently influenced by a family history of autoimmune diseases.

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16. Maillard AM, Dini S, Repond G, Haarman G, Clair C, Jequier Gygax M. [Autistic spectrum disorder in women : how does gender operate?]. Rev Med Suisse. 2024; 20(880): 1253-7.

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, that affects both pediatric and adult populations and presents heterogeneously. The understanding of the clinical characteristics of ASD has expanded, in parallel with societal developments, including the integration of the notion of gender in medicine. It appears that individuals affected by this disorder, regardless of their age, are neither detected, diagnosed, nor followed or treated in the same manner depending on their gender. This article proposes to review current knowledge on ASD, its expression based on gender, factors influencing care, and the consequences for patients of exposure to gender bias.

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17. Martín-Díaz P, Cuesta-Gómez A, Fernádez-González P, Carratlá-Tejada M. Balance and motor skills differences between children and teenagers with autism spectrum disorder and neurotypically developing. Autism Res. 2024.

This study examined the differences between children and adolescents with autism spectrum disorder (ASD) and neurotypically developing (NTD) in terms of balance, postural control, and motor skills. It also examined which motor skills are most affected and whether scores on different assessment tests in ASD children are correlated. A cross-sectional observational study with two research groups was conducted. Timed up and go test (TUG), short form of Bruininks-Oseretsky test of Motor Proficiency version 2 (SFBOT-2), and pediatric balance scale (PBS) were used. A total of 100 participants 50 with ASD and 50 with NTD engaged in the research. Statistically significant differences were obtained between control group and ASD group in TUG test and in SFBOT-2 standard score and total score (p-value = <0.01). A statistically significant difference (p-value = <0.01) was seen between ASD group's and control group's PBS scores. Poor correlation was noted between TUG and SFBOT-2, as well as between PBS and TUG. A moderate correlation was also found between SFBOT-2 and PBS. Children with ASD present difficulties in motor skills and in static and dynamic balance compared to children with NTD. Differences were observed in the motor skills of strength followed by manual dexterity, running speed and agility, fine motor precision, fine motor integration, and balance. The PBS item that showed the greatest difference between the ASD group and control group was maintaining monopodial support with hands on hips. Finally, poor to moderate correlations were obtained between the different tests with statistically significant differences.

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18. Meguid NA, Hemimi M, Rashad M, Elsaeid A, Elpatrik G, Zeidan HM. Dysregulation of miR-146a in human milk of mothers having children with autism. Int J Dev Neurosci. 2024.

Autism spectrum disorder (ASD) is a set of neurobehavioral manifestations that impose poor social interaction and stereotyped repetitive patterns. Several mircoRNA (miRNA) dysregulations underpin ASD pathophysiology via impairing the neurogenic niches. For instance, miR-146a and miR-106 differential expressions are linked to deregulation of ASD-related genes and the severity of clinical symptoms, respectively. Breastfeeding provides newborns with many bioactive compounds that support their neurodevelopment including miRNA. Our pilot study evaluated the expression pattern of miR-106a and miR-146a in human milk (HM) of nursing mothers (n = 36) having autistic children compared to age-matched counterparts (n = 36) with neurotypical children as controls. Under sterile conditions, breast milk samples were collected using manual sucking pumps and centrifuged to separate the fat layer. Total RNA was extracted from the lipid fraction, and the expression profiles of both miR-106a and miR-146a were evaluated using quantitative real-time polymerase chain reaction. Among the test group, we reported some factors that were previously linked to HM miRNA perturbations: gestational diabetes, hypertension, and cesarean delivery. HM miR-106a showed comparable expression levels in both mother groups (p = 0.8681), whereas HM miR-146a was significantly downregulated in mothers with autistic children compared to controls (p = 0.0399). Alternatively, HM miR-106 levels were positively associated with two ASD clinical parameters: Childhood Autism Rating Scale (CARS) and communication and language domain of Autism Diagnostic Interview-Revised (ADI-R) (r = 0.6452, p = 0.0003 and r = 0.3958, p = 0.0410, respectively). The receiver operating characteristic (ROC) curves of both maternal HM miR-106a and miR-146a showed poor fitness as predictive biomarkers for ASD. Our findings suggest that the miR-146a differential expression in ASD children may originate at infancy during the lactation period. Thus, maternal pre- and postnatal health care is critical to maintain optimal miRNome in breast milk.

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19. Mellado-Cairet P, Brebion M, Henry R, Crowe AM, Orliaguet G, Keita H. Behavioral training and mirroring techniques to prepare for elective anesthesia in children with autism spectrum disorder: a prospective evaluation of implemented program. Minerva Anestesiol. 2024.

BACKGROUND: Children with autism spectrum disorder (ASD) often require multiple interventions receiving general anesthesia during their lifetimes. However, a single negative experience may trigger and/or aggravate anxiety and subsequent development of unwanted behavior. This monocentric study assessed the compliance with mask induction of children with ASD who followed a preoperative preparation using behavioral training with positive reinforcement technique and use of mirroring technique. METHODS: Prospective observational study including all children with ASD scheduled for day case treatment receiving general anesthesia, from November 2019 to August 2022. The primary outcome was Induction Compliance Checklist (ICC) score. The secondary outcomes were child’s anxiety in the operating room assessed by the modified Yale Anxiety Scale (mYPAS), the comportment of the child in the recovery room, parental satisfaction about perioperative management (0 to 10 numerical scale) and the satisfaction of the caregivers about anesthetic management (0 to 10 numerical scale). Behavioral changes were assessed one month after the procedure when possible. RESULTS: In total, 43 children from 1 to 17 years old were included. Median ICC score was 3 [1-6]. Induction Compliance was considered as excellent in 18.6% of patients, good in 39.5%, fair in 14.0% and poor in 27.9%. Seven patients (16.3%) needed restraint during induction. CONCLUSIONS: The use of behavioral and mirroring techniques implemented as a preparation program for children with ASD could facilitate mask induction of anesthesia. Such a preparation achieves good to excellent compliance in almost 60% of patients.

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20. Ouchida J, Nakashima H, Ito S, Segi N, Yamauchi I, Oishi R, Miyairi Y, Morita Y, Ode Y, Nagatani Y, Okada Y, Tsushima M, Machino M, Ota K, Tachi H, Kagami Y, Shinjo R, Ohara T, Tsuji T, Kanemura T, Imagama S. Does global spinal alignment affect the use of walking aids after multi-segment spinal fixation for patients with ASD? A multicenter retrospective study. Eur Spine J. 2024.

PURPOSE: This study aimed to clarify the relation between global spinal alignment and the necessity of walking aid use in patients with adult spinal deformity (ASD) and to investigate the impact of spinal fixation on mobility status after surgery. METHODS: In total, 456 older patients with ASD who had multi-segment spinal fixation surgery and were registered in a multi-center database were investigated. Patients under 60 years of age and those unable to walk preoperatively were excluded. Patients were classified by their mobility status into the independent, cane, and walker groups. Comparison analysis was conducted using radiographic spinopelvic parameters and the previously reported global spine balance (GSB) classification. In addition, preoperative and 2 years postoperative mobility statuses were investigated. RESULTS: Of 261 patients analyzed, 66 used walking aids (canes, 46; walkers, 20). Analysis of preoperative radiographical parameters showed increased pelvic incidence and pelvic incidence-lumbar lordosis mismatch in the walker group and increased sagittal vertebral axis in the cane and walker groups versus the independent group. Analysis of GSB classification showed a higher percentage of walker use in those with severe imbalance (grade 3) in the sagittal classification but not in the coronal classification. While postoperative radiographical improvements were noted, there was no significant difference in the use of walking aids before and 2 years after surgery (P = 0.085). CONCLUSION: A significant correlation was found between « sagittal » spinal imbalance and increased reliance on walking aids, particularly walkers. However, the limitation of improvement in postoperative mobility status suggested that multiple factors influence the mobility ability of elderly patients with ASD.

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21. Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, An D, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study. Med. 2024.

BACKGROUND: Trofinetide was approved for the treatment of Rett syndrome based on the results of the phase 3, randomized, placebo-controlled, 12-week LAVENDER study. Rett syndrome is a chronic disorder requiring long-term treatment. We report the efficacy and safety results of LILAC, a 40-week, open-label extension study of LAVENDER. METHODS: Females with Rett syndrome aged 5-21 years received open-label treatment with trofinetide for 40 weeks. The primary endpoint was long-term safety of trofinetide; secondary endpoints included the change from baseline at week 40 in the Rett Syndrome Behaviour Questionnaire score and the Clinical Global Impression-Improvement score at week 40. FINDINGS: Overall, 154 participants were enrolled and treated with trofinetide in LILAC. The most common adverse events in LILAC were diarrhea (74.7%), vomiting (28.6%), and COVID-19 (11.0%). Diarrhea was the most common adverse event leading to treatment withdrawal (21.4%). The Rett Syndrome Behaviour Questionnaire mean score (standard error) improvement from the LAVENDER baseline to week 40 in LILAC was -7.3 (1.62) and -7.0 (1.61) for participants treated with trofinetide and placebo in LAVENDER, respectively. Mean Clinical Global Impression-Improvement scores (standard error) at week 40 rated from the LILAC baseline were 3.1 (0.11) and 3.2 (0.14) for participants treated with trofinetide and placebo in LAVENDER, respectively. CONCLUSIONS: Treatment with trofinetide for ≤40 weeks continued to improve symptoms of Rett syndrome. Trofinetide had a similar safety profile in LILAC as in LAVENDER. FUNDING: The study was supported by Acadia Pharmaceuticals Inc. (San Diego, CA, USA). This trial was registered at ClinicalTrials.gov (NCT04279314).

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22. Samuel PS, Marsack-Topolewski CN, Janks E, Raoufi G, Milberger S. Family Support of Older Caregivers: Factors Influencing Change in Quality of Life. Am J Intellect Dev Disabil. 2024; 129(4): 308-25.

Understanding factors that can improve the quality of life (QOL) of older caregivers of people with intellectual and developmental disabilities (IDD) is important in broadening participation in family empowerment interventions. The purpose of this study was to identify the factors influencing the QOL of older caregivers (50+) of adults with IDD who participated in a peer-mediated state-wide family support project. The research study used a quasi-experimental research design grounded in the family quality of life (FQOL) framework, with pretest and posttest data gathered from 82 caregivers. Correlation and regression analyses were conducted to identify factors influencing changes in the QOL of study participants. Findings indicated that improvements in caregiver QOL after participating in the project could be explained by caregiver’s employment status, increased global FQOL, and decreased caregiver stress and depression.

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23. Sanderson KA, Burke MM, Hodapp RM. Understanding Natural Supports in Diverse Adults With Intellectual and Developmental Disabilities Across Life Domains. Am J Intellect Dev Disabil. 2024; 129(4): 247-62.

Although natural supports benefit individuals with intellectual and developmental disabilities (IDD), little is known about natural support provided within specific life domains or how race/ethnicity or support from professionals impacts the extent of natural support one receives. In this study, 518 parents of adults with IDD responded to a national survey about natural supports, including who provides support, the number of supporters, and variables that predict natural supports. Family most often provided support, although professionals and family friends were frequent supporters in several domains. Natural support was most extensive in health, least extensive in employment and housing. Individuals with IDD who regularly participated in daytime activities and/or identified as Black had more extensive natural support. Implications are discussed.

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24. Themistocleous CK, Andreou M, Peristeri E. Autism Detection in Children: Integrating Machine Learning and Natural Language Processing in Narrative Analysis. Behav Sci (Basel). 2024; 14(6).

Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average age of diagnosis in the Greek population is approximately six years. However, this age of diagnosis is delayed by an additional two years for families from lower-income or minority backgrounds. These disparities result in adverse impacts on intervention outcomes, which are further burdened by the often time-consuming and labor-intensive language assessments for children with ASD. There is a crucial need for tools that increase access to early assessment and diagnosis that will be rigorous and objective. The current study leverages the capabilities of artificial intelligence to develop a reliable and practical model for distinguishing children with ASD from typically-developing peers based on their narrative and vocabulary skills. We applied natural language processing-based extraction techniques to automatically acquire language features (narrative and vocabulary skills) from storytelling in 68 children with ASD and 52 typically-developing children, and then trained machine learning models on the children’s combined narrative and expressive vocabulary data to generate behavioral targets that effectively differentiate ASD from typically-developing children. According to the findings, the model could distinguish ASD from typically-developing children, achieving an accuracy of 96%. Specifically, out of the models used, hist gradient boosting and XGBoost showed slightly superior performance compared to the decision trees and gradient boosting models, particularly regarding accuracy and F1 score. These results bode well for the deployment of machine learning technology for children with ASD, especially those with limited access to early identification services.

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25. Wong CM, Aljunied M, Chan DKL, Cheong JMY, Chew B, Chin CH, Choo SHT, Chua AHL, Foo MTS, Goh TJ, Khader M, Khoo SKM, Koh HC, Lian WB, Lim HH, Poon KK, Sim ZL, Sung M, Tan PC, Yong S, Zhang G, Aishworiya R. 2023 clinical practice guidelines on autism spectrum disorder in children and adolescents in Singapore. Ann Acad Med Singap. 2024; 53(4): 541-52.

INTRODUCTION: Autism is a neurodevelopmental condition that is increasing in prevalence worldwide. There has been an exponential increase in autism-related research since 2010, when the first Singapore Clinical Practice Guidelines (CPG) on autism was published. Understanding of autism has since evolved to adopt a lifespan approach beyond that of a childhood condition. The aim of this CPG was to provide an updated set of recommendations for children and adolescents to aid clinical practice for professionals. METHOD: A multidisciplinary workgroup that comprised representatives from various sectors worked on this CPG. Clinical questions were organised into 10 different sections, each with its own subgroup of members. Seventeen existing international guidelines were evaluated using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) framework, of which 4 met criteria to act as references. Literature review across multiple databases was conducted between January 2011 to 2023; Grading of Recommendations, Assessment, Development and Evaluation (GRADE-like) methodology was used to synthesise evidence. Recommendation statements were derived, following Delphi-style consensus surveys among the workgroup. The draft guidelines underwent external review and public consultation before being formalised. RESULTS: Recommendation and good practice statements pertaining to care of children and adolescents on the autism spectrum across 10 different sections were developed. Evidence matrices complement these recommendations and detail relevant evidence behind each recommendation statement. CONCLUSION: It is intended for these guidelines to promote effective management and healthcare services for children and adolescents on the autism spectrum, by reinforcing good and evidence-based clinical practice within our national context.

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26. Yanchik A, Vietze P, Lax LE. The Effects of Discrete Trial and Natural Environment Teaching on Adaptive Behavior in Toddlers With Autism Spectrum Disorder. Am J Intellect Dev Disabil. 2024; 129(4): 263-78.

The literature has yet to review the differential effects of Natural Environment Teaching (NET) and Discrete Trial Teaching (DTT) on adaptive skills. A sample of 142 children diagnosed with ASD between the ages of 16 and 35 months received either DTT, NET, or both interventions (NET+ DTT). The Bayley Scales of Infant and Toddler Development (BSID) Adaptive Subscale and the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) Barriers Assessment were used as baseline and posttest measures. Children who received NET and NET+DTT conditions showed significant improvements compared to the DTT condition indicating that the addition of NET leads to increased adaptive skills and decreased barrier behaviors in participants. DTT may also play a necessary foundational role for children with more significant delays. These results provide support for the use of a combination of teaching strategies in community-based early intervention and refine protocols for teaching adaptive skills to toddlers with ASD.

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27. Yang X, Li H, Yang C, Ge J. Supplementation with stigma maydis polysaccharide attenuates autism-like behaviors and improves gut function in valproic acid-induced autism model male rats. Int J Dev Neurosci. 2024.

Stigma maydis polysaccharide (SMPS) has regulatory effect on the intestinal microflora and promotes gastrointestinal peristalsis. Children with autism spectrum disorder (ASD) often experience gastrointestinal problems and dysbiosis in their gut microbiota. Our previous study revealed that SMPS interventions had an impact on the gut microbiota of valproic acid (VPA)-induced autism model rats. However, the effects of SMPS on the behavior and gut function of autism model rats remain poorly understood. Therefore, we gave different doses of SMPS intervention in the early stage of autism model rats to observe their developmental conditions and behavior performances. Through histological evaluation and real-time polymerase chain reaction (PCR), integrity of the intestinal structure and the expression of tight junction-related gene Zo-1 and Occludin were detected. The results indicated that SMPS intervention improved the physical development, learning and memory impairment, and social performance of autism model rats. Meanwhile, SMPS promoted intestinal peristalsis and restored the integrity of the intestinal structure, reduced the number of inflammatory cells, and increased the expression of the Zo-1 and Occludin genes. Furthermore, the expression levels of neurotransmitters (substance P, enkephalin, vasoactive intestinal peptide, and 5-hydroxytryptamine) in the hippocampal tissues were altered after SMPS treatment. In conclusion, SMPS could ameliorate ASD-like phenotypes and gut problems in autism model rats. Collectively, these results provide new evidence for the relationship between the gut-brain axis and ASD and suggest a novel therapeutic target for ASD treatment.

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28. Yau SH, Choo K, Tan J, Monson O, Bovell S. Comparing and contrasting barriers in augmentative alternative communication use in nonspeaking autism and complex communication needs: multi-stakeholder perspectives. Front Psychiatry. 2024; 15: 1385947.

Augmentative alternative communication (AAC) devices or systems are often prescribed to minimally verbal or nonspeaking autistic individuals and other individuals with complex communication needs to facilitate communication or as an alternative to spoken language. AAC use can result in communication gains and improved quality of life for minimally verbal or nonspeaking individuals. Despite this, AAC abandonment is high, limiting societal participation of the individual on the autism spectrum with complex communication needs. Our study is a novel exploration of the barriers of AAC use from a multi-stakeholder perspective, and a qualitative analysis of similarities and differences between stakeholders. We conducted semi-structured interviews and focus groups with 30 parent-carers, educators and clinicians currently supporting AAC users in Western Australia and analysed the data using reflexive thematic analysis. Barriers from each stakeholder group were coded, resulting in 17 subthemes forming five main themes common to all stakeholders: Stakeholder Knowledge, Stakeholder Attitudes and Stigma, Resources, AAC User Engagement, and Device Fit. Contrasting perspectives included actual and perceived stigma associated with AAC use (parent-carers vs clinicians); different struggles with resources and knowledge (parent-carers vs clinicians and educators); and a lack of clinician communication in the processes that determined AAC-fit for school environments (educators only). Findings are discussed in the context of improving inter-stakeholder collaboration and capacity building in Australian health service and practice to better support minimally verbal or nonspeaking autistic individuals and individuals with complex communication needs. Suggestions are also offered for communication partner training.

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29. Yu AP, Zeng W, Lopez K, Magaña S. Reducing Depressive Symptoms Among Latina Mothers of Autistic Children: A Randomized Controlled Trial. Am J Intellect Dev Disabil. 2024; 129(4): 294-307.

This study examines the intervention effect of a culturally tailored parent education program in reducing depressive symptoms among Latina mothers of autistic children. In this two-site randomized waitlist-control study (n = 109 mother-child dyads), a peer-to-peer mentoring (promotora) model was used to deliver an intervention that was designed to increase mothers’ self-efficacy and use of evidence-based strategies. We assessed mothers’ depressive symptom (CES-D) scores at three time points and used linear mixed models to determine whether their scores significantly changed from baseline to postintervention (Time 2) and at 4 months postintervention (Time 3). Results show that mothers in the intervention group reported a significant decrease in mean depressive symptom scores at Time 2 and that the effect was maintained at Time 3 with intermediate to medium effect sizes. There were no differences in results across sites. Findings suggest that Parents Taking Action, a culturally tailored intervention led by peer mentors, showed a significant effect both immediately after the intervention and 4 months postintervention in reducing depressive symptoms among Latina mothers of autistic children.

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30. Zamstein O, Wainstock T, Gutvirtz G, Sheiner E. Assessing the impact of medically assisted reproduction on autism spectrum disorder risk. J Assist Reprod Genet. 2024.

PURPOSE: Techniques of medically assisted reproduction interact with the embryo at crucial developmental stages, yet their impact on the fetus and subsequent child’s health remains unclear. Given rising infertility rates and more frequent use of fertility treatments, we aimed to investigate if these methods heighten the risk of autism spectrum disorder (ASD) in children. METHODS: A population-based cohort study was conducted at Soroka University Medical Center, a tertiary referral hospital, encompassing singleton births. The incidence of ASD in offspring, incorporating either hospital or community-based diagnoses, was compared in relation to the conception method. To examine the cumulative incidence of ASD, a Kaplan-Meier survival curve was utilized. Cox proportional hazards model was employed to adjust for confounders. RESULTS: Among 115,081 pregnancies, 0.5% involved ovulation induction (OI) and 1.7% in vitro fertilization (IVF), with the rest conceived naturally. Fertility treatments were more common in older patients and linked to more diabetes, hypertensive disorders, preterm, and cesarean deliveries. Out of 767 ASD diagnoses, offspring from OI and IVF had higher initial ASD rates (2.1% and 1.3%) than natural conceptions (0.6%). In a Cox model accounting for maternal age, ethnicity, and gender, neither OI nor IVF was significantly associated with ASD. The adjusted hazard ratios were 0.83 (95% CI 0.48-1.43) for OI and 1.34 (95% CI 0.91-1.99) for IVF. When considering fertility treatments combined, the association with ASD remained non-significant (aHR 1.11, 95% CI 0.80-1.54, p = 0.52). CONCLUSION: Fertility treatments, including OI and IVF, do not exhibit a significant association with heightened ASD risk in offspring.

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