1. Alqaysi ME, Albahri AS, Hamid RA. Hybrid Diagnosis Models for Autism Patients Based on Medical and Sociodemographic Features Using Machine Learning and Multicriteria Decision-Making (MCDM) Techniques: An Evaluation and Benchmarking Framework. Computational and mathematical methods in medicine. 2022; 2022: 9410222.

METHOD: The three-phase framework integrated the MCDM and ML to develop the diagnosis models and evaluate and benchmark the best. Firstly, the new ASD-dataset-combined medical tests and sociodemographic characteristic features is identified and preprocessed. Secondly, developing the hybrid diagnosis models using the intersection process between three FS techniques and five ML algorithms introduces 15 models. The selected medical tests and sociodemographic features from each FS technique are weighted before feeding the five ML algorithms using the fuzzy-weighted zero-inconsistency (FWZIC) method based on four psychiatry experts. Thirdly, (i) formulate a dynamic decision matrix for all developed models based on seven evaluation metrics, including classification accuracy, precision, F1 score, recall, test time, train time, and AUC. (ii) The fuzzy decision by opinion score method (FDOSM) is used to evaluate and benchmark the 15 models concerning the seven evaluation metrics. RESULTS: Results reveal that (i) the three FS techniques have obtained a size different from the others in the number of the selected features; the sets were 39, 38, and 41 out of 48 features. Each set has its weights constructed by FWIZC. Considered sociodemographic features have been mostly selected more than medical tests within FS techniques. (ii) The first three best hybrid models were « ReF-decision tree, » « IG-decision tree, » and « Chi(2)-decision tree, » with score values 0.15714, 0.17539, and 0.29444. The best diagnosis model (ReF-decision tree) has obtained 0.4190, 0.0030, 0.9946, 0.9902, 0.9902, 0.9902, 0.9902, and 0.9951 for the C1=train time, C2=test time, C3=AUC, C4=CA, C5=F1 score, C6=precision, and C7=recall, respectively. The developed framework would be beneficial in advancing, accelerating, and selecting diagnosis tools in therapy with ASD. The selected model can identify severity as light, medium, or intense based on medical tests and sociodemographic weighted features.

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2. Brugnaro BH, Vieira FN, Fernandes G, de Camargo OK, Fumincelli L, de Campos AC, Pavão SL, Rocha N. Exploration of the Feasibility of Remote Assessment of Functioning in Children and Adolescents with Developmental Disabilities: Parents’ Perspectives and Related Contextual Factors. International journal of environmental research and public health. 2022; 19(22).

The COVID-19 pandemic interrupted face-to-face health services, leveraging telehealth strategies. The aim of this cross-sectional study was to investigate, from a parent’s perspective, the feasibility of a remote assessment of functioning in children with developmental disabilities during the pandemic and related contextual factors, based on how parents carry out the assessment. Parents of children with developmental disabilities (mean age = 7.56 ± 3.68) responded to a remote assessment via electronic forms and telephone interview. We analyzed parents’ perspectives about the feasibility of the assessment. We also tested the association between feasibility score and sociodemographics/pandemic experience. Regression analysis tested if children’s functioning characteristics predicted feasibility. A total of 57 mothers completed the remote assessment, and more than 95% did not report difficulties in accessing/responding to electronic forms. They scored remote assessment as easy and feasible, and reported no difficulties with telephone interview. Greater feasibility rates were related to lower maternal age (rho Spearman = -0.290; p = 0.029). The model shows that children’s characteristics predicted 20.4% of feasibility (p < 0.005). Remote assessment showed to be feasible. Younger mothers might consider easier-to-use technologies, beyond considering remote assessment more viable. These results can guide the next steps in research and remote clinical practice.

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3. Cohen AL, Kroeck MR, Wall J, McManus P, Ovchinnikova A, Sahin M, Krueger DA, Bebin EM, Northrup H, Wu JY, Warfield SK, Peters JM, Fox MD. Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis. Annals of neurology. 2022.

OBJECTIVE: Tuberous sclerosis complex (TSC) is associated with focal brain « tubers » and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms. METHODS: We delineated tuber locations for 115 TSC participants with ASD (n = 31) and without ASD (n = 84) from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network. We tested for associations between ASD diagnosis and tuber burden within the whole brain, specific lobes, and at 8 regions of interest derived from the ASD neuroimaging literature, including the anterior cingulate, orbitofrontal and posterior parietal cortices, inferior frontal and fusiform gyri, superior temporal sulcus, amygdala, and supplemental motor area. Next, we performed an unbiased data-driven voxelwise lesion symptom mapping (VLSM) analysis. Finally, we calculated the risk of ASD associated with positive findings from the above analyses. RESULTS: There were no significant ASD-related differences in tuber burden across the whole brain, within specific lobes, or within a priori regions derived from the ASD literature. However, using VLSM analysis, we found that tubers involving the right fusiform face area (FFA) were associated with a 3.7-fold increased risk of developing ASD. INTERPRETATION: Although TSC is a rare cause of ASD, there is a strong association between tuber involvement of the right FFA and ASD diagnosis. This highlights a potentially causative mechanism for developing autism in TSC that may guide research into ASD symptoms more generally. ANN NEUROL 2022.

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4. de Camargo RW, de Novais Júnior LR, da Silva LM, Meneguzzo V, Daros GC, da Silva MG, de Bitencourt RM. Implications of the endocannabinoid system and the therapeutic action of cannabinoids in autism spectrum disorder: A literature review. Pharmacology, biochemistry, and behavior. 2022; 221: 173492.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, onset in early childhood and associated with cognitive, social, behavioral, and sensory impairments. The pathophysiology is still unclear, and it is believed that genetic and environmental factors are fully capable of influencing ASD, especially cell signaling and microglial functions. Furthermore, the endocannabinoid system (ECS) participates in the modulation of various brain processes and is also involved in the pathophysiological mechanisms of this condition. Due to the health and quality of life impacts of autism for the patient and his/her family and the lack of effective medications, the literature has elucidated the possibility that Cannabis phytocannabinoids act favorably on ASD symptoms, probably through the modulation of neurotransmitters, in addition to endogenous ligands derived from arachidonic acid, metabolizing enzymes and even transporters of the membrane. These findings support the notion that there are links between key features of ASD and ECS due to the favorable actions of cannabidiol (CBD) and other cannabinoids on symptoms related to behavioral and cognitive disorders, as well as deficits in communication and social interaction, hyperactivity, anxiety and sleep disorders. Thus, phytocannabinoids emerge as therapeutic alternatives for ASD.

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5. Elsayed HE, Thompson KL, Conklin JL, Watson LR. Systematic Review of the Relation Between Feeding Problems and Sensory Processing in Children With Autism Spectrum Disorder. American journal of speech-language pathology. 2022; 31(6): 2875-99.

PURPOSE: Many studies have linked sensory sensitivities to feeding problems in children with autism spectrum disorder (ASD). Despite the importance of sensory processing for a variety of mealtime and eating skills, the specific sensory processes that may impact feeding problems in children with ASD have not been comprehensively reviewed. Thus, the goal of this systematic review was to understand the associations between sensory processing and feeding difficulties in children with ASD. METHOD: This systematic review was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The PubMed, CINAHL Plus with Full Text (EBSCOhost), Scopus (Elsevier), and Embase (Elsevier) databases were searched from their dates of inception through the final search date of April 19, 2022, for English language studies that examined both sensory processing and feeding among children with ASD. Studies were assessed for quality using the Joanna Briggs Institute critical appraisal tools. RESULTS: A total of 27 studies were included. Findings supported the existence of a relationship between sensory processing and feeding problems in children with ASD. Specifically, studies reported that overall scores on sensory processing measures as well as measures of oral sensory processing were frequently associated with feeding problems. CONCLUSIONS: This review supports the development of future feeding interventions focusing on sensory processing given the relationship between sensory processing and feeding problems among children with ASD. Future research should focus on utilizing consistent feeding assessments specific to children with ASD and collect information on medical diagnoses that can impact feeding in order to report on feeding more holistically in this population. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.21453909.

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6. Eshraghi AA, Memis I, Wang F, White I, Furar E, Mittal J, Moosa M, Atkins CM, Mittal R. Genetic ablation of metabotropic glutamate receptor 5 in rats results in an autism-like behavioral phenotype. PloS one. 2022; 17(11): e0275937.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, and social skills, as well as repetitive and/or restrictive interests and behaviors. The severity of ASD varies from mild to severe, drastically interfering with the quality of life of affected individuals. The current occurrence of ASD in the United States is about 1 in 44 children. The precise pathophysiology of ASD is still unknown, but it is believed that ASD is heterogeneous and can arise due to genetic etiology. Although various genes have been implicated in predisposition to ASD, metabotropic glutamate receptor 5 (mGluR5) is one of the most common downstream targets, which may be involved in autism. mGluR5 signaling has been shown to play a crucial role in neurodevelopment and neural transmission making it a very attractive target for understanding the pathogenesis of ASD. In the present study, we determined the effect of genetic ablation of mGluR5 (Grm5) on an ASD-like phenotype using a rat model to better understand the role of mGluR5 signaling in behavior patterns and clinical manifestations of ASD. We observed that mGluR5 Ko rats exhibited exaggerated self-grooming and increased marble burying, as well as deficits in social novelty. Our results suggest that mGluR5 Ko rats demonstrate an ASD-like phenotype, specifically impaired social interaction as well as repetitive and anxiety-like behavior, which are correlates of behavior symptoms observed in individuals with ASD. The mGluR5 Ko rat model characterized in this study may be explored to understand the molecular mechanisms underlying ASD and for developing effective therapeutic modalities.

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7. Faustmann LL, Kretschmer-Trendowicz A, Altgassen M. Do emotionally salient cues improve prospective memory performance in children and adolescents with autism?. Research in developmental disabilities. 2022; 131: 104375.

BACKGROUND: Prospective memory (PM) describes the ability to initiate and perform a planned action after a delay. Previous studies suggest reduced PM in autism spectrum disorder (ASD); especially when tasks put high demands on executive control resources. Increasing cue salience by presenting emotional cues improves PM performance in non-autistic populations. AIMS: To explore whether children with ASD, whose processing of emotionally connoted information might differ from that of typically developing children, may also benefit from this type of salience in PM tasks. METHODS AND PROCEDURES: Twenty-five children with and 25 children without ASD completed a 1-back ongoing task into which an event-based PM task was embedded. Emotional salience of PM cues was varied. OUTCOMES AND RESULTS: Children with ASD performed as well as children without ASD on the PM task and equally benefited from emotionally salient cues. Specifically, negative cues increased PM performance compared to neutral cues in both groups CONCLUSIONS AND IMPLICATIONS: The findings are consistent with the multiprocess framework which postulates that salient PM cues increase performance by promoting automatic intention retrieval and reducing executive control demands. Children with ASD seem to show similar comprehension and accessibility to emotional cues as typically developing children.

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8. Feng S, Wang Q, Hu Y, Lu H, Li T, Song C, Fang J, Chen L, Yi L. Increasing Audiovisual Speech Integration in Autism Through Enhanced Attention to Mouth. Developmental science. 2022: e13348.

Autistic children show less audiovisual speech integration in the McGurk task, which correlates with their reduced mouth-looking time. The present study examined whether autistic children’s less audiovisual speech integration in the McGurk task could be increased by increasing their mouth-looking time. We recruited 4- to 8-year-old autistic children and nonautistic children. In two experiments, we manipulated children’s mouth-looking time, measured their audiovisual speech integration by employing the McGurk effect paradigm, and tracked their eye movements. In Experiment 1, we blurred the eyes in McGurk stimuli and compared children’s performances in blurred-eyes and clear-eyes conditions. In Experiment 2, we cued children’s attention to either the mouth or eyes of McGurk stimuli or asked them to view the McGurk stimuli freely. We found that both blurring the speaker’s eyes and cuing to the speaker’s mouth increased mouth-looking time and increased audiovisual speech integration in the McGurk task in autistic children. In addition, we found that blurring the speaker’s eyes and cuing to the speaker’s mouth also increased mouth-looking time in nonautistic children, but neither blurring the speaker’s eyes nor cuing to the speaker’s mouth increased their audiovisual speech integration in the McGurk task. Our findings suggest that audiovisual speech integration in the McGurk task in autistic children could be increased by increasing their attention to the mouth. Our findings contribute to a deeper understanding of relations between face attention and audiovisual speech integration, and provide insights for the development of professional supports to increase audiovisual speech integration in autistic children. This article is protected by copyright. All rights reserved.

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9. Harmens M, Sedgewick F, Hobson H. Autistic women’s diagnostic experiences: Interactions with identity and impacts on well-being. Women’s health (London, England). 2022; 18: 17455057221137477.

OBJECTIVE: There has been suggestion that current diagnostic instruments are not sufficient for detecting and diagnosing autism in women, and research suggests that a lack of diagnosis could negatively impact autistic women’s well-being and identity. This study aimed to explore the well-being and identity of autistic women at three points of their diagnostic journey: self-identifying or awaiting assessment, currently undergoing assessment or recently diagnosed, and more than a year post-diagnosis. METHODS: Mixed-methods were used to explore this with 96 women who identified as autistic and within one of these three groups. Participants completed an online questionnaire, and a sub-sample of 24 of these women participated in a semi-structured interview. RESULTS: Well-being was found to differ significantly across groups in three domains: satisfaction with health, psychological health, and environmental health. Validation was found to be a central issue for all autistic women, which impacted their diagnosis, identity, and well-being. The subthemes of don’t forget I’m autistic; what now?; having to be the professional; and no one saw me were also identified. CONCLUSION: These results suggest that autistic women’s well-being and identity differ in relation to their position on the diagnostic journey in a non-linear manner. We suggest that training on the presentation of autism in women for primary and secondary healthcare professionals, along with improved diagnostic and support pathways for autistic adult women could go some way to support well-being.

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10. Högstedt E, Igelström K, Korhonen L, Käcker P, Marteinsdottir I, Björk M. ‘It’s like it is designed to keep me stressed’-Working sustainably with ADHD or autism. Scandinavian journal of occupational therapy. 2022: 1-12.

BACKGROUND: Adults with attention deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) face multiple challenges in obtaining and maintaining employment. AIMS: To identify and describe how adults with ADHD or ASD experienced their ability to work and what factors affected their ability to find a sustainable work situation over time. METHODS: Individual in-depth interviews were performed with 20 purposively sampled participants with ADHD/ASD. Data were analysed inductively using reflexive thematic analysis. RESULTS: Three themes were identified, describing (1) one’s own cognitive abilities and challenges, (2) enablement by flexibility and acceptance in the work environment, and (3) accumulated stress that makes the work situation unsustainable over time. CONCLUSIONS: Over time, a lack of continuity and predictability of support measures caused great stress and exhaustion, with severe consequences for working life and in life in general. Adaptations needed to be individually tailored and include nonoccupational factors. SIGNIFICANCE: The study shows that adults with ADHD/ASD need long-term interventions that flexibly adapt to individual needs, as they vary over time. The findings suggest that occupational therapists and other health care providers, employers, employment services and other involved agencies should pay a greater deal of attention to stability and predictability over time.

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11. Jensen ET, Yi J, Jackson W, Singh R, Joseph RM, Kuban KCK, Msall ME, Washburn L, Fry R, South AM, O’Shea TM. Analysis of Neurodevelopment in Children Born Extremely Preterm Treated With Acid Suppressants Before Age 2 Years. JAMA network open. 2022; 5(11): e2241943.

IMPORTANCE: Children born preterm are at increased risk of adverse neurodevelopmental outcomes and may be particularly vulnerable to the effects of gastric acid suppression during infancy. OBJECTIVE: To assess whether early acid suppressant use in infants born extremely preterm is associated with poorer neurodevelopmental outcomes. DESIGN, SETTING, AND PARTICIPANTS: The Extremely Low Gestational Age Newborn study was a multicenter, longitudinal cohort study of infants born before 28 weeks’ gestational age between March 22, 2002, and August 31, 2004. The current analyses were performed from September 12, 2020, through September 22, 2022. Of the 1506 infants enrolled, 284 died before discharge and 22 died before 24 months of age. An additional 2 died before age 10 years, leaving 1198 (79.5%) eligible for a visit. Of these, 889 (74%) participated in the visit at age 10. At age 10 years, the association of early-life acid suppressant use with neurocognitive, neurodevelopmental, and psychiatric symptomatology was assessed. EXPOSURES: Acid suppressant use before 24 months of age was determined from medical records and from questionnaires administered to mothers. MAIN OUTCOMES AND MEASURES: Neurodevelopmental assessments at age 10 years included the School-Age Differential Ability Scales-II, the Developmental Neuropsychological Assessment-II, the Autism Diagnostic Observation Schedule-2, the Social Responsiveness Scale-2, and the Child Symptom Inventory-4 for attention-deficit/hyperactivity disorder (ADHD), depression, and anxiety. RESULTS: Of the 889 participants assessed at age 10 years (mean [SD] age, 9.97 [0.67] years; mean [SD] gestational age at birth, 26.1 [1.3] weeks; 455 [51.2%] male), 368 (41.4%) had received acid suppressants by 24 months of age. Associations were observed between acid suppressant use and decreased full-scale IQ z score (adjusted β, -0.29; 95% CI, -0.45 to -0.12), verbal IQ z score (adjusted β, -0.34; 95% CI, -0.52 to -0.15), nonverbal IQ z score (adjusted β, -0.22; 95% CI to -0.39 to -0.05), working memory z score (adjusted β, -0.26; 95% CI to -0.45, -0.08), autism spectrum disorder (adjusted relative risk, 1.84; 95% CI, 1.15-2.95), and epilepsy (adjusted relative risk, 2.07; 95% CI, 1.31 to 3.35). Results were robust to multiple sensitivity analyses. Use of acid suppressants was not associated with inhibitory control, ADHD, anxiety, or depression. CONCLUSIONS AND RELEVANCE: The results of this cohort study suggest that early-life use of acid suppressants in extremely preterm infants may be associated with poorer neurodevelopmental outcomes and add to evidence indicating caution in use of these agents.

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12. Lin E, Lunsky Y, Chung H, Durbin A, Volpe T, Dobranowski K, Benadict MB, Balogh R. Amenable deaths among adults with intellectual and developmental disabilities including Down syndrome: An Ontario population-based cohort study. Journal of applied research in intellectual disabilities : JARID. 2022.

BACKGROUND: Rates of death and avoidable deaths are reportedly higher among people with intellectual and developmental disabilities. This study contributes to our understanding of how mortality and intellectual and development disabilities are associated. METHOD: General population and intellectual and developmental disabilities adult cohorts were defined using linked administrative data. All-cause and amenable deaths between 2010 and 2015 were reported for these cohorts and subcohorts with and without Down syndrome. Cox proportional hazards models evaluated the impact of potential contributors to amenable deaths. RESULTS: Adults with intellectual and developmental disabilities had higher all-cause (6.1 vs. 1.6%) and amenable death percentages (21.4 vs. 14.1%) than general population comparators. Within intellectual and developmental disabilities, those with Down syndrome had higher all-cause (12.0 vs. 6.0%) but lower amenable death percentages (19.2 vs. 21.8%) than those without. CONCLUSIONS: Results suggest that interventions to reduce amenable deaths target provider-care-recipient interactions and coordination across care and support sectors.

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13. Malow BA, Veatch OJ, Niu X, Fitzpatrick KA, Hucks D, Maxwell-Horn A, Davis LK. A practical approach to identifying autistic adults within the electronic health record. Autism research : official journal of the International Society for Autism Research. 2022.

The electronic health record (EHR) provides valuable data for understanding physical and mental health conditions in autism. We developed an approach to identify charts of autistic young adults, retrieved from our institution’s de-identified EHR database. Clinical notes within two cohorts were identified. Cohort 1 charts had at least one International Classification of Diseases (ICD-CM) autism code. Cohort 2 charts had only autism key terms without ICD-CM codes, and at least four notes per chart. A natural language processing tool parsed medical charts to identify key terms associated with autism diagnoses and mapped them to Unified Medical Language System Concept Unique Identifiers (CUIs). Average scores were calculated for each set of charts based on captured CUIs. Chart review determined whether patients met criteria for autism using a classification rubric. In Cohort 1, of 418 patients, 361 were confirmed to have autism by chart review. Sensitivity was 0.99 and specificity was 0.68 with positive predictive value (PPV) of 0.97. Specificity improved to 0.81 (sensitivity was 0.95; PPV was 0.98) when the number of notes was limited to four or more per chart. In Cohort 2, 48 of 136 patients were confirmed to have autism by chart review. Sensitivity was 0.95, specificity was 0.73, and PPV was 0.70. Our approach, which included using key terms, identified autism charts with high sensitivity, even in the absence of ICD-CM codes. Relying on ICD-CM codes alone may result in inclusion of false positive cases and exclusion of true cases with autism.

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14. Muldoon DM, Murphy TM, DeBonis DA. « Tan and Crunchy Is Where We Live »: An Interpretative Phenomenological Analysis of Caregivers’ Perspectives of Pediatric Feeding Disorder in Children With Developmental Disability. American journal of speech-language pathology. 2022; 31(6): 2675-87.

PURPOSE: The purpose of this study was to examine caregivers’ perceptions of feeding disorders in their young child who also had a co-occurring developmental disability (DD). METHOD: Using interpretative phenomenological analysis, eight caregivers of children with DD and pediatric feeding disorder (PFD) were interviewed. Interviews were recorded, transcribed, and analyzed for the lived experiences of caregivers. Thematic analysis, member checking, and an audit were completed by three researchers. RESULTS: Three themes emerged: Parenting Journey, Emotions and Repercussions, and Winging It. Results indicated caregivers struggled to find appropriate professional help, referenced lack of confidence in the professionals designated to help, and were often ambivalent in approach to the PFD. Indications were that parents were frequently retelling past experiences as they presented the narrative of the feeding disorder and, as such, created narratives that became part of their present and the future experiences when feeding their child. CONCLUSIONS: Implications for speech-language pathologists are considered. Particularly, interventions that go beyond the immediate environmental variables of the feeding or mealtime environment are considered, including the application of this analysis to necessary psychological flexibility for caregivers of children with PFD.

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15. Ng CSM, Ng SSL. A qualitative study on the experience of stigma for Chinese parents of children with autism spectrum disorder. Scientific reports. 2022; 12(1): 19550.

Experiencing stigma related to having a child with autism spectrum disorder (ASD) can be difficult and is detrimental to parent well-being. Since the research on stigmatized experiences among parents of children with ASD in non-Western communities is limited, this qualitative study examined the experiences, reactions and impacts of stigma on parents of children with ASD in Hong Kong. In-depth interviews were conducted with 54 Chinese parents/caregivers of children with ASD aged between 35 and 73 years old. Data were analyzed using an inductive approach. The participants reported stigma which stemmed from negative labelling of their children by schools and healthcare professionals, bullying by peers, stereotypes of ASD and stigma linked to autistic children’s behavior in the community. The reactions of participants towards stigmatization were classified into internalizing reactions including apologizing, ignoring and concealing ASD and externalizing reactions such as fighting back. The participants also reported impacts of stigma on both personal and emotional levels. The results point to the urgent need for the government to allocate resources and make concerted efforts to reduce stigma by educating the community to foster more positive attitudes towards individuals with ASD and offer support and counselling services to parents.

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16. Pouretemad HR, Sadeghi S, Badv RS, Brand S. Differentiating Post-Digital Nannying Autism Syndrome from Autism Spectrum Disorders in Young Children: A Comparative Cross-Sectional Study. Journal of clinical medicine. 2022; 11(22).

Excessive exposure of young children to digital devices has increased in recent years. Much research has shown that early excessive screentime is associated with autistic-like symptoms. This study aimed to differentiate children with Post-Digital Nannying Autism Syndrome (PDNAS) from children with autism spectrum disorders (ASD) and typically developing children (TDC), both behaviorally and cognitively. This study is comparative and cross-sectional and included three groups of children. The first group consisted of 15 young children with subthreshold autism symptoms. They had not received a formal diagnosis of ASD and had been exposed to digital devices for more than half of their waking time. The second group consisted of 15 young children with ASD, and the third group consisted of 15 young TDC. A lifestyle checklist, a modified checklist for autism in toddlers (M-CHAT), a behavioral flexibility rating scale-revised (BFRS-R), the Gilliam autism rating scale (GARS-2), and a behavior rating inventory of executive functioning-preschool version (BRIEF-P) were used to compare the three groups. The results showed that executive functions and behavioral flexibility were more impaired in children with ASD than in children with PDNAS and in TDC. Also, we found that there was no significant difference in the severity of autism symptoms between the children with ASD and the children with PDNAS. Early excessive exposure to digital devices may cause autism-like symptoms in children (PDNAS). Children with PDNAS are different from children with ASD in executive functions and behavioral flexibility. Further research is needed in this area.

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17. Rooney T, Stern YS, Hampton LH, Grauzer J, Hobson A, Levin A, Jones MK, Kaat AJ, Roberts MY. Screening for Autism in 2-Year-Old Children: The Application of the Systematic Observation of Red Flags to the Screening Tool for Autism in Toddlers and Young Children. American journal of speech-language pathology. 2022; 31(6): 2759-69.

PURPOSE: A multimeasure approach was developed to capitalize on the strengths of two screening measures: the Screening Tool for Autism in Toddlers and Young Children (STAT), an observational measure of social communication, and the Systematic Observation of Red Flags (SORF), a checklist including restricted and repetitive behavior (RRB) items. This approach offers a novel method of identifying autism in toddlers. METHOD: This was a retrospective study of data collected from a multidisciplinary diagnostic program for 24- to 36-month-olds with developmental delays. Raters with autism expertise but naïve to diagnoses applied the SORF to STAT videos. Psychometrics were derived for the SORF on STAT observations and a multiple-measure approach that used a Least Absolute Shrinkage and Selection Operator modeling framework to construct a STAT-SORF RRB Hybrid, retaining SORF RRB items based on individual predictive abilities. RESULTS: The SORF alone correctly classified 84% of the sample (84% sensitivity and 86% specificity). The STAT-SORF RRB Hybrid model, which retained four SORF RRB items, correctly classified 90% of a validation sample (95% sensitivity and 75% specificity). CONCLUSION: These findings highlight the potential utility of using multiple autism identification tools and regression-based scoring to establish presumptive eligibility and facilitate early access to autism interventions.

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18. Rosello R, Martinez-Raga J, Tomas JM, Rosello B, Berenguer C, Cortese S. Exploring developmental trajectories throughout adolescence of children with autism spectrum disorder without intellectual disability. Journal of neural transmission (Vienna, Austria : 1996). 2022.

Characterizing the developmental trajectories of children with autism spectrum disorder (ASD) throughout adolescence and across different domains of functioning offers opportunities to improve long-term outcomes. This prospective study explored, for the first time, the evolution of children with ASD-without intellectual disability (ID) in terms of socio-adaptative skills, learning behaviors, executive functioning (EF), and internalizing/externalizing problems, compared to typically developing (TD) peers. Forty-five children with ASD-without ID and 37 matched TD children (aged 7-11) were assessed at baseline and after 5 years. Parents and teachers completed measures on theory of mind (ToM), socialization, daily living skills, learning style, EF, and emotional/behavioural difficulties at both time points. On all the domains assessed, the ASD group performed significantly worse than the TD group, both in childhood and adolescence. Specific changes were noted between baseline and follow-up assessment on adaptive skills, prosocial behavior, emotional control, inhibit, working memory and monitoring. Group membership (ASD/TD) was influenced by peer relationships and inhibit EF variables. These findings have implications for clinical and school settings.

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19. Saggar M, Bruno JL, Hall SS. Brief intensive social gaze training reorganizes functional brain connectivity in boys with fragile X syndrome. Cerebral cortex (New York, NY : 1991). 2022.

Boys with fragile X syndrome (FXS), the leading known genetic cause of autism spectrum disorder (ASD), demonstrate significant impairments in social gaze and associated weaknesses in communication, social interaction, and other areas of adaptive functioning. Little is known, however, concerning the impact of behavioral treatments for these behaviors on functional brain connectivity in this population. As part of a larger study, boys with FXS (mean age 13.23 ± 2.31 years) and comparison boys with ASD (mean age 12.15 ± 2.76 years) received resting-state functional magnetic resonance imaging scans prior to and following social gaze training administered by a trained behavior therapist in our laboratory. Network-agnostic connectome-based predictive modeling of pretreatment resting-state functional connectivity data revealed a set of positive (FXS > ASD) and negative (FXS < ASD) edges that differentiated the groups significantly and consistently across all folds of cross-validation. Following administration of the brief training, the FXS and ASD groups demonstrated reorganization of connectivity differences. The divergence in the spatial pattern of reorganization response, based on functional connectivity differences pretreatment, suggests a unique pattern of response to treatment in the FXS and ASD groups. These results provide further support for implementing targeted behavioral treatments to ameliorate syndrome-specific behavioral features in FXS.

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20. Schlegel S, Eisenberg DB, Caneira L, Augustyn M. Challenging Case: Caregiver-Fabricated Illness Masquerading as Autism Spectrum Disorder. Journal of developmental and behavioral pediatrics : JDBP. 2022.

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21. Strom NI, Smit DJA, Silzer T, Iyegbe C, Burton CL, Pool R, Lemire M, Crowley JJ, Hottenga JJ, Ivanov VZ, Larsson H, Lichtenstein P, Magnusson P, Rück C, Schachar RJ, Wu HM, Meier SM, Crosbie J, Arnold PD, Mattheisen M, Boomsma DI, Mataix-Cols D, Cath D. Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals. Translational psychiatry. 2022; 12(1): 479.

Hoarding Disorder (HD) is a mental disorder characterized by persistent difficulties discarding or parting with possessions, often resulting in cluttered living spaces, distress, and impairment. Its etiology is largely unknown, but twin studies suggest that it is moderately heritable. In this study, we pooled phenotypic and genomic data from seven international cohorts (N = 27,537 individuals) and conducted a genome wide association study (GWAS) meta-analysis of parent- or self-reported hoarding symptoms (HS). We followed up the results with gene-based and gene-set analyses, as well as leave-one-out HS polygenic risk score (PRS) analyses. To examine a possible genetic association between hoarding symptoms and other phenotypes we conducted cross-trait PRS analyses. Though we did not report any genome-wide significant SNPs, we report heritability estimates for the twin-cohorts between 26-48%, and a SNP-heritability of 11% for an unrelated sub-cohort. Cross-trait PRS analyses showed that the genetic risk for schizophrenia and autism spectrum disorder were significantly associated with hoarding symptoms. We also found suggestive evidence for an association with educational attainment. There were no significant associations with other phenotypes previously linked to HD, such as obsessive-compulsive disorder, depression, anxiety, or attention-deficit hyperactivity disorder. To conclude, we found that HS are heritable, confirming and extending previous twin studies but we had limited power to detect any genome-wide significant loci. Much larger samples will be needed to further extend these findings and reach a « gene discovery zone ». To move the field forward, future research should not only include genetic analyses of quantitative hoarding traits in larger samples, but also in samples of individuals meeting strict diagnostic criteria for HD, and more ethnically diverse samples.

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22. Wilkinson S, Evans S, DeJong M. Assessing autism spectrum disorder in children with a background of maltreatment: challenges and guidance. Archives of disease in childhood. 2022.

There may be some similarities in the presentation of children who have autism spectrum disorder (ASD) and those exposed to maltreatment affecting assessment and diagnosis. Overlapping characteristics include difficulties understanding and maintaining relationships, sensitivity to routine and hyper-reactivity to sensory inputs. Children who have been maltreated are at increased risk of various developmental vulnerabilities with both environmental and genetic factors being relevant. The existing epidemiological evidence has found that looked-after children are more likely to screen positively for neurodevelopmental disorders and there are smaller scale studies in adoptive children finding higher rates of ASD than would be expected in the general population. Other research suggests a predominantly genetic basis for this increased risk in keeping with what is generally understood about the aetiology of autism. Children exposed to profound deprivation in Romanian orphanages were found to be at higher risk of a pattern of traits termed ‘quasi autistic’ which tended to reduce following adoption, but these findings have not been replicated in children experiencing maltreatment in birth families. Reactive attachment disorder (RAD) has some overlapping criteria with ASD, but its prevalence is unknown and children with RAD should be more socially reciprocal and not have the same repetitive and restricted behaviours and interests. We recommend experienced multidisciplinary assessment that considers both the possibility of maltreatment in children with ASD and neurodevelopmental vulnerabilities in children who have been maltreated and advise on assessment and management strategies.

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