1. Airoldi C, Pagnoni F, Cena T, Ceriotti D, De Ambrosi D, De Vito M, Faggiano F. Estimate of the prevalence of subjects with chronic diseases in a province of Northern Italy: a retrospective study based on administrative databases. BMJ open. 2023; 13(6): e070820.

OBJECTIVE: To find a definition of chronic disease based on literature review and to estimate the population-based prevalence rate of chronicity in a province in Northern Italy. DESIGN: Retrospective observational study based on administrative databases. DATA SOURCES/SETTING: Archives of the National Health Service that contain demographic and administrative information linked with the archives of ticket exemptions (2000-2019), the hospital discharge and drug prescriptions (2016-2019). PARTICIPANTS: Subjects who lived in Vercelli Local Health Authority, a Northern Italian province (Piedmont region), and were alive in December 2019. MAIN OUTCOME MEASURES: Prevalence of subjects with at least one chronic disease identified by administrative sources and stratification of population according to the number of comorbidities. The pathologies considered were: chronic ischaemic heart disease, congestive heart failure, cardiac arrhythmias, hypertension, stroke, neoplasm, asthma, chronic obstructive pulmonary disease, diabetes, thyroid disorders, osteoporosis, rheumatoid arthritis, chronic kidney disease, dementia, autism spectrum disorder, depression, schizophrenia, hepatitis, HIV and substance use disorders. RESULTS: Our target population was about 164 344 subjects. The overall prevalence of subjects with at least one chronic condition was 21.43% (n=35 212): 19 541 were female and 15 671 were male with a raw prevalence of 22.96% and 19.77%, respectively. The overall prevalence increases with age until 85 years old, then a decrease is observed. Moreover, 16.39% had only one pathology, 4.30% two diseases and 0.74% had a more complex clinical condition (more than three diseases). CONCLUSIONS: Despite the difficulty of having a unique definition of chronic disease, the prevalence obtained was coherent with the estimates reported by other national surveillance systems such as Passi and Passi d’Argento. Underestimates were observed when international comparisons were done; however, when we used less stringent definitions of chronic diseases, similar results were obtained.

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2. Biggs EE, Arserio AP, Robison SE, Ross ME. Home Literacy Environment and Interventions for Children With Intellectual and Developmental Disabilities: A Scoping Review. Journal of speech, language, and hearing research : JSLHR. 2023; 66(6): 2118-40.

PURPOSE: The aim of this scoping review was to map the research literature published in English and in peer-reviewed journals related to the home literacy environment of children and youth aged 3-21 years with intellectual and developmental disabilities (IDD) who have significant support needs, including children with complex communication needs. METHOD: A systematic search was conducted in four databases, along with forward and backward searching. The search yielded 60 studies, which included intervention and nonintervention studies. Data were charted related to participant characteristics, study focus, intervention components, study design and methodological rigor, and study results. RESULTS: Findings provided insight into multiple dimensions of the home literacy environment for children with IDD, including the nature of parent views, practices, and interaction styles during shared reading. Findings also revealed gaps in the literature, specifically related to (a) limited representation of subgroups of children and youth with IDD, (b) limited representation of diverse families and caregivers, and (c) concerns about methodological quality. CONCLUSION: This review identifies important directions for future research and suggests ways to improve the design and delivery of home literacy interventions for children and youth with IDD and their families, including through family-centered and culturally responsive models. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22704817.

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3. Clark GT, Reuterskiöld C. Word Learning With Orthographic Support in Nonspeaking and Minimally Speaking School-Age Autistic Children. Journal of speech, language, and hearing research : JSLHR. 2023; 66(6): 2047-63.

PURPOSE: Previous research has demonstrated that typically developing children, verbal children with a diagnosis of autism, children with Down syndrome, children with developmental language disorder, and children with dyslexia can all benefit from orthographic support during word learning tasks. This study sought to determine if minimally speaking or nonspeaking children with a diagnosis of autism would also demonstrate an orthographic facilitation effect during a computer-based remote word learning task. METHOD: Twenty-two school-age children with a diagnosis of autism and little to no spoken language learned four novel words by contrasting the words with known objects. Two novel words were taught with orthographic support present, and two were taught without orthographic support. Participants were exposed to the words a total of 12 times and then given an immediate posttest to assess identification. Parent report measures of receptive vocabulary, expressive vocabulary, autism symptomatology, and reading skills were also collected. RESULTS: During learning tasks, participants performed equally well whether orthographic support was given or not. For the posttest, however, participants performed significantly better for words that were taught with orthographic support. The presence of orthography improved accuracy and supported a greater number of participants to reach the passing criterion compared to the absence of orthography. Orthographic representations aided the word learning of those with lower expressive language significantly more than those with higher expressive language. CONCLUSIONS: Minimally speaking or nonspeaking children with a diagnosis of autism benefit from orthographic support when learning new words. Further investigation is warranted to determine if this effect holds during face-to-face interactions using augmentative and alternative communication systems. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22465492.

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4. Coskunpinar EM, Tur S, Cevher Binici N, Yazan Songür C. Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. Gene. 2023; 870: 147399.

Autism spectrum disorder (ASD) is a neurodevelopmental and neurobehavioral disorder characterized by impaired social communication, repetitive and restricted patterns of behavior, activity, or interest, and altered emotional processing. Reported prevalence is 4 times higher in men and it has increased in recent years. Immunological, environmental, epigenetic, and genetic factors play a role in the pathophysiology of autism. Many neurochemical pathways and neuroanatomical events are effective in determining the disease. It is still unclear how the main symptoms of autism occur because of this complex and heterogeneous situation. In this study, we focused on gamma amino butyric acid (GABA) and serotonin, which are thought to contribute to the etiology of autism; it is aimed to elucidate the mechanism of the disease by investigating variant changes in the GABA receptor subunit genes GABRB3, GABRG3 and the HTR2A gene, which encodes one of the serotonin receptors. 200 patients with ASD between the ages of 3-9 and 100 healthy volunteers were included in the study. Genomic DNA isolation was performed from peripheral blood samples taken from volunteers. Genotyping was performed using the RFLP method with PCR specific for specific variants. Data were analyzed with SPSS v25.0 program. According to the data obtained in our study; In terms of HTR2A (rs6313 T102C) genotypes, the homozygous C genotype carrying frequency in the patient group and the homozygous T genotype carrying frequency in the GABRG3 (rs140679 C/T) genotypes were found to be significantly higher in the patient group compared to the control group (*p: 0.0001, p: 0.0001). It was determined that the frequency of individuals with homozygous genotype was significantly higher in the patient group compared to the control group and having homozygous genotypes increased the disease risk approximately 1.8 times. In terms of GABRB3 (rs2081648 T/C) genotypes, it was determined that there was no statistically significant difference in the frequency of carrying homozygous C genotype in the patient group compared to the control group (p: 0.36). According to the results of our study, we think that the HTR2A (rs6313 T102C) polymorphism is effective in modulating the empathic and autistic characteristics of individuals, and that the HTR2A (rs6313 T102C) polymorphism is more distributed in the post-synaptic membranes in individuals with a higher number of C alleles. We believe that this situation can be attributed to the spontaneous stimulatory distribution of the HTR2A gene in the postsynaptic membranes because of T102C transformation. In genetically based autism cases, carrying the point mutation in the rs6313 variant of the HTR2A gene and the C allele and the point mutation in the rs140679 variant of the GABRG3 gene and accordingly carrying the T allele provide a predisposition to the disease.

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5. Gur A, Hindi TN, Mashiach S, Roth D, Keren M. Parental reflective functioning and coping among parents of toddlers with severe developmental disabilities: An early integrative bio-psycho-social rehabilitative intervention in daycare facilities. Research in developmental disabilities. 2023; 139: 104555.

BACKGROUND: Parental reflective functioning has a positive effect on parents’ wellbeing. It is associated with positive outcomes for their children. However, there is little research on it among parents of toddlers with severe developmental disabilities. AIMS: We examined an early bio-psycho-social rehabilitative intervention with parents of toddlers with severe developmental disabilities in daycare programs and its contribution to their parental reflective functioning and coping. METHODS AND PROCEDURES: Seventy parents of children (ages 3 months to two and half years) responded to measures before and after the intervention in their children’s daycare programs. Structural equation modeling of the mediation model revealed that the therapeutic inputs were associated with more adaptive coping strategies by increasing parental reflective functioning. OUTCOMES AND RESULTS: Parents who participated in an intervention of 13 sessions or more significantly increased their reflective functioning. The path analysis showed that parental reflective functioning after the intervention mediated the association between its prior level and the therapeutic inputs, and the parents’ proactivity and search for support. CONCLUSIONS AND IMPLICATIONS: Parental reflective functioning positively affects parents’ adaptive coping styles. A bio-psycho-social intervention targeting parental reflective functioning benefits parents of toddlers with severe developmental disabilities.

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6. Haugland M, Hartmann K, Feinn R, Gowdy L, Marquis-Eydman T. Interprofessional Approach to Educate Health Care Students About Intellectual and Developmental Disabilities: Adaptive Communication and Physical Activity Planning. MedEdPORTAL : the journal of teaching and learning resources. 2023; 19: 11317.

INTRODUCTION: People with intellectual and/or developmental disabilities (IDD) are a historically marginalized population and often require complex team-based health care services. Health care students receive little, if any, training about caring for this population. Improving training at the student level can improve health care quality for this population. METHODS: We developed a two-part interprofessional seminar series to increase students’ knowledge, attitudes, and skills regarding caring for patients with IDD. The seminars were taught over Zoom and utilized presentation slides, prerecorded mock video interviews, and breakout room discussions focused on adaptive communication and developing adaptive physical activity plans for people with IDD. Participants comprised undergraduate and graduate students from various health care professional programs, including occupational therapy, medicine, and nursing. RESULTS: Part 1 had 208 participants, and part 2 had 107 participants. Both seminars were assessed using pre- and postsurveys that demonstrated increased participant comfort and confidence with the respective subjects. Competence of learned skills was not assessed. Participants in both seminars felt they would benefit from more direct interaction with people with IDD to practice learned skills. DISCUSSION: The results are encouraging for continued implementation at Quinnipiac University, with potential for use in other programs. Further iterations may include people with IDD serving as seminar cofacilitators, opportunities for students to directly interact with people with IDD, and use of an assessment approach evaluating learned skills competence. Curriculum expansion should cover the unique health care inequities faced by people with IDD who also belong to other marginalized groups.

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7. Leyhausen J, Schäfer T, Gurr C, Berg LM, Seelemeyer H, Pretzsch CM, Loth E, Oakley B, Buitelaar JK, Beckmann CF, Floris DL, Charman T, Bourgeron T, Banaschewski T, Jones EJ, Tillmann J, Chatham C, Murphy D, Ecker C. Differences in Intrinsic Gray-Matter Connectivity and their genomic underpinnings in Autism Spectrum Disorder. Biological psychiatry. 2023.

BACKGROUND: Autism is a heterogenous neurodevelopmental condition accompanied by differences in brain connectivity. Structural connectivity in autism has mainly been investigated within the white matter. However, many genetic variants associated with autism highlight genes related to synaptogenesis and axonal guidance, thus also implicating differences in ‘intrinsic’ (i.e. gray-matter) connections in autism. Intrinsic connections may be assessed in vivo via so-called intrinsic global and local wiring costs. METHODS: Here, we examined intrinsic global and local wiring costs in the brain of N=359 autistic individuals and N=279 controls, aged 7-31 years from the EU-AIMS Longitudinal European Autism Project (LEAP). FreeSurfer was used to derive surface mesh representations to compute the estimated length of connections required to wire the brain within the gray-matter. Vertex-wise between-group differences were assessed using a general linear model. A gene expression decoding analysis based on the Allan Human Brain Atlas was performed to link neuroanatomical differences to putative underpinnings. RESULTS: Group differences in global and local wiring costs were predominantly observed in medial and lateral prefrontal brain regions, in inferior temporal regions, and at the left temporoparietal junction. The resulting neuroanatomical patterns were enriched for genes previously implicated in the etiology of autism at the genetic and transcriptomic level. CONCLUSION: Based on intrinsic gray-matter connectivity, the study investigated the complex neuroanatomy of autism and linked between-group differences to putative genomic and/or molecular mechanisms to parse the heterogeneity of autism and provide targets for future subgrouping approaches.

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8. Lopes LPN, de Oliveira JC, Bergamaschi CC, Fulone I, Lima EDC, Abe FC, Mazzei LG, Figueiró MF, Lopes LC. Use of second-generation antipsychotics in autism spectrum disorder: a systematic review and meta-analysis protocol. BMJ open. 2023; 13(6): e069114.

INTRODUCTION: Atypical antipsychotics have been studied to treat autism spectrum disorder (ASD). However, like little is known about whether these drugs are effective and safe when compared in controlled and non-controlled settings. This study aims to assess the efficacy and safety of second-generation antipsychotics in ASD in randomised controlled trials (RCT) and observational studies. METHODS AND ANALYSIS: This systematic review will include RCT and prospective cohorts evaluating second-generation antipsychotics in people 5 years and older diagnosed with ASD. Searches will be conducted in Medline, Embase, Cochrane Library, Epistemonikos, Lilacs, CINAHL, PsycINFO, trial registries and grey literature databases without restriction on publication status, year of publication and language. The primary outcomes will be symptoms of aggressive behaviour, quality of life for the individual or their careers, and discontinuation or dropouts/withdrawals of antipsychotics due to adverse events. The secondary outcomes are other not serious adverse events and adherence to pharmacotherapy. Selection, data extraction, and quality assessment will be performed by pairs of reviewers, independently. The Risk of Bias 2 (RoB 2) and Risk of Bias in Non-Randomised Studies of Interventions (ROBINS-I) tools will be used to assess the risk of bias in the included studies. If appropriate, a meta-analysis and network meta-analysis will be conducted to synthesise the results. The overall quality of the evidence for each outcome will be determined by the Recommendation, Assessment, Development and Evaluation approach. ETHICS AND DISSEMINATION: This study will systematically summarise the existing evidence evaluating the use of second-generation antipsychotics for treating ASD, in controlled and uncontrolled studies. The results of this review will be disseminated through peer-reviewed publications and conference presentations. PROSPERO REGISTRATION NUMBER: CRD42022353795.

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9. Sapey-Triomphe LA, Pattyn L, Weilnhammer V, Sterzer P, Wagemans J. Neural correlates of hierarchical predictive processes in autistic adults. Nature communications. 2023; 14(1): 3640.

Bayesian theories of autism spectrum disorders (ASD) suggest that atypical predictive mechanisms could underlie the autistic symptomatology, but little is known about their neural correlates. Twenty-six neurotypical (NT) and 26 autistic adults participated in an fMRI study where they performed an associative learning task in a volatile environment. By inverting a model of perceptual inference, we characterized the neural correlates of hierarchically structured predictions and prediction errors in ASD. Behaviorally, the predictive abilities of autistic adults were intact. Neurally, predictions were encoded hierarchically in both NT and ASD participants and biased their percepts. High-level predictions were following activity levels in a set of regions more closely in ASD than NT. Prediction errors yielded activation in shared regions in NT and ASD, but group differences were found in the anterior cingulate cortex and putamen. This study sheds light on the neural specificities of ASD that might underlie atypical predictive processing.

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10. Stern YS, Lee J, Levy R, Glickman A, Grauzer J, Kaat AJ, Roberts MY. A Comparison of Maternal and Clinician Perception of Communication in Autistic Toddlers. Journal of speech, language, and hearing research : JSLHR. 2023; 66(6): 2064-78.

PURPOSE: Parent instruction in communication facilitation strategies for autistic toddlers relies on assumptions that parents interpret child behaviors in alignment with clinician definitions of communication. The purpose of this study was to identify features of child behaviors that are predictive of alignment in identification of child communication between clinical researchers and mothers of young autistic children. METHOD: Participants were 33 mothers and their autistic children between 18 and 48 months of age. Mothers’ and clinical researchers’ perceptions of child communication were assessed using a procedure in which mothers and clinical researchers each independently identified child communication in the same ten 1-min video clips of each mother’s child. Endorsed communicative acts were coded for the presence of conventional forms (e.g., vocalization) and potentially communicative forms (e.g., body movement). Multilevel binomial regressions, fit with Bayesian inference, were conducted to predict classification of maternal endorsements of child communication based on the presence of conventional and potentially communicative forms as either an aligned act (i.e., act endorsed by mother and clinical researcher as communicative) or a unique maternal endorsement (i.e., act endorsed by mother but not clinical researcher). RESULTS: The presence of vocalization, verbalization, and gesture each significantly predicted increased likelihood of alignment; the presence of eye contact did not. Although repetitive and sensory behaviors significantly increased the likelihood of unique maternal endorsement, affect shifts and body movements each significantly reduced the likelihood of unique maternal endorsement, and hand activity was not significantly predictive of unique maternal endorsement. CONCLUSIONS: Misalignment in mothers’ and clinical researchers’ identification of communication may be in part due to mothers’ endorsement of behavioral forms that are not traditionally classified as part of a child’s communication repertoire. Findings emphasize the need to work toward designing communication interventions that consider the ways in which clinicians and parents of autistic children each bring their own interpretive frameworks to the early intervention experience.

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11. Wakim KM, Foxe JJ, Molholm S. Cued motor processing in autism and typical development: A high-density electrical mapping study of response-locked neural activity in children and adolescents. The European journal of neuroscience. 2023.

Motor atypicalities are common in autism spectrum disorder (ASD) and are often evident prior to classical ASD symptoms. Despite evidence of differences in neural processing during imitation in autistic individuals, research on the integrity and spatiotemporal dynamics of basic motor processing is surprisingly sparse. To address this need, we analysed electroencephalography (EEG) data recorded from a large sample of autistic (n = 84) and neurotypical (n = 84) children and adolescents while they performed an audiovisual speeded reaction time (RT) task. Analyses focused on RTs and response-locked motor-related electrical brain responses over frontoparietal scalp regions: the late Bereitschaftspotential, the motor potential and the reafferent potential. Evaluation of behavioural task performance indicated greater RT variability and lower hit rates in autistic participants compared to typically developing age-matched neurotypical participants. Overall, the data revealed clear motor-related neural responses in ASD, but with subtle differences relative to typically developing participants evident over fronto-central and bilateral parietal scalp sites prior to response onset. Group differences were further parsed as a function of age (6-9, 9-12 and 12-15 years), sensory cue preceding the response (auditory, visual and bi-sensory audiovisual) and RT quartile. Group differences in motor-related processing were most prominent in the youngest group of children (age 6-9), with attenuated cortical responses observed for young autistic participants. Future investigations assessing the integrity of such motor processes in younger children, where larger differences may be present, are warranted.

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12. Werren EA, Srinivasan VM, Gowda VK, Pandey A, Vaish S, Kabbur AR, Nandeesh BN, Srivastava A. A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia. American journal of medical genetics Part A. 2023.

Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmental disorder (NDD) caused by homozygous variants in the gene C2orf69. Here, we report a novel frameshift variant c.187_191dupGCCGA, p.D64Efs*56 identified in an individual with clinical presentation of COXPD53 with developmental regression and autistic features. The variant c.187_191dupGCCGA, p.D64Efs*56 represents the most N-terminal part of C2orf69. Notable clinical features of COXPD53of the proband include developmental delay, developmental regression, seizures, microcephaly, and hypertonia. Structural brain defects of cerebral atrophy, cerebellar atrophy, hypomyelination, and thin corpus callosum were also observed. While we observe strong phenotypic overlap among affected individuals with C2orf69 variants, developmental regression and autistic features have not been previously described in individuals with COXPD53. Together, this case expands the genetic and clinical phenotypic spectrum of C2orf69-associated COXPD53.

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13. Zaydlin M, Cruz A, Bez Y, Coffey BJ. A Targeted Combined Pharmacotherapy Approach for Aggressive Behavior in a Child with Autism Spectrum Disorder. Journal of child and adolescent psychopharmacology. 2023; 33(5): 195-9.

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