1. Anderson-Chavarria M, Turner J. Searching for the ‘Trigger’: An ethnographic analysis of parental beliefs regarding autism causation and vaccination in Puerto Rico. Vaccine. 2023; 41(2): 540-6.

This study examines the personal beliefs held by parents of autistic children in Puerto Rico regarding the cause of their child’s autism and how these beliefs may influence parental vaccination decision-making. This study seeks to contribute towards diversifying the autism literature by focusing on an autism community living in a relatively lower income, resource-deficit context. These findings expand our understandings of how parents of autistic children may perceive vaccines and how these perceptions are informed by various sources of knowledge. This ethnographic research study was conducted between May 2017 and August 2019. Methods included 350+ hours of participant-observation and semi-structured interviewing of 35 Puerto Rican parents of autistic children. 32 of these 35 parents interviewed believed autism to be the result of genetic risks that are ‘triggered’ by an unknown environmental factor. Suggested ‘triggers’ included various environmental contaminants and vaccinations. The subject of vaccination came up in every interview; 18 interviewed parents did not believe vaccines ‘triggered’ autism, 3 parents attributed their child’s autism entirely to vaccines, while 14 considered vaccines to be one of several possible ‘triggers’. It is important to note that no parents interviewed perceived vaccinations to be inherently or universally harmful. Rather, they perceived vaccinations to be one of many possible ‘triggers’ for a child predisposed to develop autism. In some cases, this perception prompted parents to oppose mandatory vaccination policies on the island. Parents shared nuanced, complex understandings of autism causation that may carry implications for COVID-19 vaccine uptake within the Puerto Rican autistic community.

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2. Błażewicz A, Grabrucker AM. Metal Profiles in Autism Spectrum Disorders: A Crosstalk between Toxic and Essential Metals. International journal of molecular sciences. 2022; 24(1).

Since hundreds of years ago, metals have been recognized as impacting our body’s physiology. As a result, they have been studied as a potential cure for many ailments as well as a cause of acute or chronic poisoning. However, the link between aberrant metal levels and neuropsychiatric illnesses such as schizophrenia and neurodevelopmental disorders, such as autism spectrum disorders (ASDs), is a relatively new finding, despite some evident ASD-related consequences of shortage or excess of specific metals. In this review, we will summarize past and current results explaining the pathomechanisms of toxic metals at the cellular and molecular levels that are still not fully understood. While toxic metals may interfere with dozens of physiological processes concurrently, we will focus on ASD-relevant activity such as inflammation/immune activation, mitochondrial malfunction, increased oxidative stress, impairment of axonal myelination, and synapse formation and function. In particular, we will highlight the competition with essential metals that may explain why both the presence of certain toxic metals and the absence of certain essential metals have emerged as risk factors for ASD. Although often investigated separately, through the agonistic and antagonistic effects of metals, a common metal imbalance may result in relation to ASD.

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3. Eissa N, Awad MA, Thomas SD, Venkatachalam K, Jayaprakash P, Zhong S, Stark H, Sadek B. Simultaneous Antagonism at H3R/D2R/D3R Reduces Autism-like Self-Grooming and Aggressive Behaviors by Mitigating MAPK Activation in Mice. International journal of molecular sciences. 2022; 24(1).

Dysregulation in brain neurotransmitters underlies several neuropsychiatric disorders, e.g., autism spectrum disorder (ASD). Also, abnormalities in the extracellular-signal-regulated kinase (ERK)/mitogen-activated protein kinase (MAPK) pathway pave the way for neuroinflammation, neurodegeneration, and altered learning phenotype in ASD. Therefore, the effects of chronic systemic administration of the multiple-targeting antagonist ST-713 at the histamine H3 receptor (H3R) and dopamine D2/D3 receptors (D2/D3R) on repetitive self-grooming, aggressive behaviors, and abnormalities in the MAPK pathway in BTBR T + Itpr3tf/J (BTBR) mice were assessed. The results showed that ST-713 (2.5, 5, and 10 mg/kg, i.p.) mitigated repetitive self-grooming and aggression in BTBR mice (all p < 0.05), and the ameliorative effects of the most promising dose of ST-713 (5 mg/kg, i.p.) on behaviors were completely abrogated by co-administration of the H3R agonist (R)-α-methylhistamine or the anticholinergic drug scopolamine. Moreover, the elevated levels of several MAPK pathway proteins and induced proinflammatory markers such as tumor necrosis factor (TNF-α), interleukin-1β (IL-1β), and IL-6 were significantly suppressed following chronic administration of ST-713 (5 mg/kg, i.p.) (all p < 0.01). Furthermore, ST-713 significantly increased the levels of histamine and dopamine in hippocampal tissue of treated BTBR mice (all p < 0.01). The current observations signify the potential role of such multiple-targeting compounds, e.g., ST-713, in multifactorial neurodevelopmental disorders such as ASD.

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4. Gabellini C, Pucci C, De Cesari C, Martini D, Di Lauro C, Digregorio M, Norton W, Zippo A, Sessa A, Broccoli V, Andreazzoli M. CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish. International journal of molecular sciences. 2022; 24(1).

Haploinsufficiency of the SETD5 gene, encoding a SET domain-containing histone methyltransferase, has been identified as a cause of intellectual disability and Autism Spectrum Disorder (ASD). Recently, the zebrafish has emerged as a valuable model to study neurodevelopmental disorders because of its genetic tractability, robust behavioral traits and amenability to high-throughput drug screening. To model human SETD5 haploinsufficiency, we generated zebrafish setd5 mutants using the CRISPR/Cas9 technology and characterized their morphological, behavioral and molecular phenotypes. According to our observation that setd5 is expressed in adult zebrafish brain, including those areas controlling social behavior, we found that setd5 heterozygous mutants exhibit defective aggregation and coordination abilities required for shoaling interactions, as well as indifference to social stimuli. Interestingly, impairment in social interest is rescued by risperidone, an antipsychotic drug used to treat behavioral traits in ASD individuals. The molecular analysis underscored the downregulation of genes encoding proteins involved in the synaptic structure and function in the adult brain, thus suggesting that brain hypo-connectivity could be responsible for the social impairments of setd5 mutant fishes. The zebrafish setd5 mutants display ASD-like features and are a promising setd5 haploinsufficiency model for drug screening aimed at reversing the behavioral phenotypes.

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5. González-García RJ, Martínez-Rico G, Escorcia-Mora C, García-Grau P. A Bibliometric Study on the Social Validity of Telepractice in Autism Spectrum Disorder. International journal of environmental research and public health. 2022; 20(1).

The field of telepractice is generating increasing interest in recent years. In recent years, early childhood services have used resources such as support for interventions in families with children with autism spectrum disorder. Due to this situation, the social validity of such resources has emerged in this sector, receiving individual attention from academics and practitioners. However, a further deepening of such analyses is needed. Therefore, the main objective of this work is to analyze papers published in the Web of Science on social validity and telepractice in autism spectrum disorders. Bibliometric analysis allows us to discover the current state of a research field, to identify the main authors, articles, and topics, and to propose future lines of research to develop it further. Articles published between 2000 and 2021 were analyzed quantitatively, and by co-occurrence of words and authors. Subsequently, through bibliographic linking, the articles were grouped into different clusters. Five central themes were found, with social skills and the effectiveness of intervention programs being the most developed areas of research. Furthermore, studies focusing on evidence-based practices are necessary for the development of this research field. Thus, the analysis of social validity in the field of telepractice in children with autism spectrum disorders is a developing field within the early childhood sector.

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6. González-Herrero B, Morgante F, Pagonabarraga J, Stanton B, Edwards MJ. Autism Spectrum Disorder May Be Highly Prevalent in People with Functional Neurological Disorders. Journal of clinical medicine. 2022; 12(1).

Recent observations suggest that autism spectrum disorder (ASD) co-occurs in people with a functional neurological disorder (FND), but little systematic data are available on the relationship between FND and autism. The study aimed to assess the self-reported autistic traits via a standardized questionnaire and the prevalence of previously diagnosed ASD among people with FND and their 1st-degree relatives. We performed a survey of members of the patient organization FNDHope, using a self-completed questionnaire for screening for autistic traits and ASD: the adult autism subthreshold spectrum (AdAS spectrum). There were 344 respondents diagnosed with FND with a mean age of 39.8 ± 11.6 years (female sex 90%). Eight per cent of respondents volunteered a previous diagnosis of ASD, and 24% reported a 1st-degree relative with a formal diagnosis of ASD, mostly their children. We found that 69% of respondents had scores in the AdAS spectrum indicating a clinically significant ASD and 21% indicating autistic traits. Further studies are needed to provide more evidence regarding the prevalence of ASD in people with FND and how this may influence the aetiology, treatment selection and prognosis.

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7. Iannuzzo F, Genovese G, Lombardo C, Infortuna C, De Stefano R, Mento C, Muscatello MRA, Bruno A. Autistic Traits, Arousal, and Gender Features in a Nonclinical Sample of Italian Adolescents. International journal of environmental research and public health. 2022; 20(1).

(1) Background: Subthreshold autism is a sub-clinical pattern of autism spectrum disorder-like (ASD-like) traits, including poor social skills, cognitive rigidity, anxiety, and aloofness. These ASD-like traits are significantly more prevalent among parents and relatives of participants with autism; however, evidence suggests that subclinical autistic traits are not restricted to the family members of individuals with autism but rather are continuously distributed in the general population. Though the autistic subclinical form is perhaps prevalent among adults, little attention has been paid to the association between autistic traits and global functioning in adolescence. The aim of the present study is to investigate the subthreshold autism phenotype in adolescence and its relationship with arousal correlates, exploring gender differences emerging in the sample. (2) Methods: A sample of 725 students (293 males and 432 females; mean age 17.19) were recruited from three high schools in Southern Italy. They were assessed by the following instruments: Autism Spectrum Quotient, Adult Autism Subthreshold Spectrum, Ritvo Autism and Asperger Diagnostic Scale 14, and Hyperarousal Scale. (3) Results: In males, significant direct correlations between all dimensions of arousal and all variables related to autistic traits emerged except for the correlations between the H-Scale « Introspection score », the AQ questionnaire « Total score » (p = 0.094), and the AdAS-Spectrum questionnaire « Empathy factor » (p = 0.210); in females, significant positive correlations between all dimensions of arousal and all variables related to autistic traits emerged. (4) Conclusions: In the sample of adolescents with subclinical profiles of autistic traits, the Empathy factor of the AdAS Spectrum questionnaire was significantly higher in the male group than in the female group, underscoring lower empathic abilities in the former group. In the male group, the empathy factor did not have a statistically significant correlation with the H-scale introspection factor or with the autistic traits measured by AQ. We suppose that in male adolescents, another hypothetical factor seems to intervene in the relationship between autistic traits and arousal. Otherwise, empathy is a preponderant factor closely related to hyper-arousal responses in female adolescents with autistic traits.

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8. Lamash L, Meyer S. Work-Related Self-Efficacy and Illness Identity in Adults with Autism. International journal of environmental research and public health. 2022; 20(1).

Finding and retaining employment significantly challenges individuals with autism spectrum disorder (ASD). The employment rates of individuals with ASD are described as extremely low, barred by various environmental, occupational, and personal factors. Illness identity is how a person’s health condition integrates with their identity and daily life and relates to self-esteem, employment, and quality of life. Adults with ASD may experience challenges developing positive identities within social and work environments, but illness identity has not been studied among this population. This study examines the autism identity of adults with ASD and the relationships to their self-reported work-related self-efficacy and quality of life. Seventeen participants aged 19-47 years diagnosed with ASD completed the Illness Identity Questionnaire, Work-Related Self-Efficacy Scale and World Health Organization Quality of Life Assessment. Participants reported significantly higher autism acceptance feelings. Negative feelings about living with autism were significantly correlated to lower work-related self-efficacy. Higher levels of enrichment feelings were significantly associated with a higher quality of life. These findings highlight the effect of illness identity on the work-related self-efficacy and quality of life among individuals with ASD. Allied health professionals and educators can assist these individuals in raising their awareness of how they perceive their autism, and in promoting its positive perception.

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9. Lee JH, Lee GW, Bong G, Yoo HJ, Kim HK. End-to-End Model-Based Detection of Infants with Autism Spectrum Disorder Using a Pretrained Model. Sensors (Basel, Switzerland). 2022; 23(1).

In this paper, we propose an end-to-end (E2E) neural network model to detect autism spectrum disorder (ASD) from children’s voices without explicitly extracting the deterministic features. In order to obtain the decisions for discriminating between the voices of children with ASD and those with typical development (TD), we combined two different feature-extraction models and a bidirectional long short-term memory (BLSTM)-based classifier to obtain the ASD/TD classification in the form of probability. We realized one of the feature extractors as the bottleneck feature from an autoencoder using the extended version of the Geneva minimalistic acoustic parameter set (eGeMAPS) input. The other feature extractor is the context vector from a pretrained wav2vec2.0-based model directly applied to the waveform input. In addition, we optimized the E2E models in two different ways: (1) fine-tuning and (2) joint optimization. To evaluate the performance of the proposed E2E models, we prepared two datasets from video recordings of ASD diagnoses collected between 2016 and 2018 at Seoul National University Bundang Hospital (SNUBH), and between 2019 and 2021 at a Living Lab. According to the experimental results, the proposed wav2vec2.0-based E2E model with joint optimization achieved significant improvements in the accuracy and unweighted average recall, from 64.74% to 71.66% and from 65.04% to 70.81%, respectively, compared with a conventional model using autoencoder-based BLSTM and the deterministic features of the eGeMAPS.

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10. Leung CS, Rosenzweig S, Yoon B, Marinelli NA, Hollingsworth EW, Maguire AM, Cowen MH, Schmidt M, Imitola J, Gamsiz Uzun ED, Lizarraga SB. Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder. Human molecular genetics. 2023.

Autism spectrum disorder (ASD) affects 1 in 44 children. Chromatin regulatory proteins are overrepresented among genes that contain high risk variants in ASD. Disruption of the chromatin environment leads to widespread dysregulation of gene expression, which is traditionally thought of as a mechanism of disease pathogenesis associated with ASD. Alternatively, alterations in chromatin dynamics could also lead to dysregulation of alternative splicing, which is understudied as a mechanism of ASD pathogenesis. The anticonvulsant valproic acid (VPA) is a well-known environmental risk factor for ASD that acts as a class I histone deacetylase (HDAC) inhibitor. However, the precise molecular mechanisms underlying defects in human neuronal development associated with exposure to VPA are understudied. To dissect how VPA exposure and subsequent chromatin hyperacetylation influence molecular signatures involved in ASD pathogenesis, we conducted RNA sequencing (RNA-seq) in human cortical neurons that were treated with VPA. We observed that differentially expressed genes (DEGs) were enriched for mRNA splicing, mRNA processing, histone modification, and metabolism related gene sets. Furthermore, we observed widespread increase in the number and the type of alternative splicing events. Analysis of differential transcript usage (DTU) showed that exposure to VPA induces extensive alterations in transcript isoform usage across neurodevelopmentally important genes. Finally, we find that DEGs and genes that display DTU overlap with known ASD-risk genes. Together, these findings suggest that, in addition to differential gene expression, changes in alternative splicing correlated with alterations in the chromatin environment could act as an additional mechanism of disease in ASD.

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11. Lovell B, Wetherell MA. Social support mediates the relationship between dispositional gratitude and psychological distress in caregivers of autistic children. Psychology, health & medicine. 2023: 1-11.

Grateful caregivers report lower levels of psychological distress. Social support, engendered by gratitude and buffering against stress, might mediate this effect. Here we explored whether the protective psychological effect of dispositional gratitude might be mediated by increased social support. A sample of 126 caregivers of autistic children completed questionnaires assessing dispositional gratitude, social support and psychological distress. Gratitude inversely predicted psychological distress, as did social support after adjusting for gratitude. Gratitude positively predicted social support. Gratitude no longer predicted psychological distress after adjusting for social support. Indirect effects analysis revealed the gratitude-distress relationship occurred indirectly via social support. Grateful caregivers reported higher levels of social support, and this predicted lower psychological distress. Gratitude, relatively stable as a disposition, has a state component that is sensitive to change, and healthcare professionals might do well to recommend gratitude enhancing interventions for caregivers of autistic children.

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12. Nishimura T, Takahashi N, Okumura A, Harada T, Iwabuchi T, Nakayasu C, Rahman S, Uchiyama S, Wakuta M, Nomura Y, Takei N, Senju A, Tsuchiya KJ. Sex Differences in Neurodevelopmental Trajectories in Children with Different Levels of Autistic Traits. Psychiatry and clinical neurosciences. 2023.

AIM: Little is known about early manifestations of autism spectrum disorders (ASD) in females, including those who may be overlooked by the current diagnostic criteria. We longitudinally explored sex differences in the trajectories of cognitive and motor functions and adaptive behaviors in children with different levels of autistic traits. METHODS: The participants were 824 children from the Hamamatsu Birth Cohort for Mothers and Children (HBC Study), Japan, who were classified into three autistic trait groups-low, moderate, and high-based on the Social Responsiveness Scale-Second Edition. Cognitive and motor functions were measured at seven time-points from 0.5 to 3.5 years of age using the Mullen Scales of Early Learning. Adaptive behaviors were measured at five time-points from 2.7 to 9 years of age using the Vineland Adaptive Behavior Scales-Second Edition. Trajectories were depicted using latent growth curve modeling. RESULTS: Sex-specific trajectories were observed in the high-autistic-trait group, with only males showing a temporary decline in expressive language around the age of 2 years and a slight improvement thereafter. They also showed a slight improvement around 3 years in the adaptive behavior communication domain but a gradual downward trend later. Females in the high-autistic-trait group showed no distinct manifestation before the age of 3 years but showed a downward trend after 3.5 years in the adaptive behavior communication domain. CONCLUSION: Females and males with higher autistic traits than their same-sex peers, independent of clinical diagnosis, may have different phenotypes in certain neurodevelopmental domains during infancy and early childhood. This article is protected by copyright. All rights reserved.

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13. Palumbo JM, Thomas BF, Budimirovic D, Siegel S, Tassone F, Hagerman R, Faulk C, O’Quinn S, Sebree T. Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment. Journal of neurodevelopmental disorders. 2023; 15(1): 1.

Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the fragile X messenger ribonucleoprotein 1 (FMR1) protein, FMRP, typically due to the presence of >200 cytosine, guanine, guanine sequence repeats leading to methylation of the FMR1 gene promoter. The absence of FMRP, following FMR1 gene-silencing, disrupts ECS signaling, which has been implicated in FXS pathogenesis. The ECS facilitates synaptic homeostasis and plasticity through the cannabinoid receptor 1, CB(1), on presynaptic terminals, resulting in feedback inhibition of neuronal signaling. ECS-mediated feedback inhibition and synaptic plasticity are thought to be disrupted in FXS, leading to overstimulation, desensitization, and internalization of presynaptic CB(1) receptors. Cannabidiol may help restore synaptic homeostasis by acting as a negative allosteric modulator of CB(1), thereby attenuating the receptor overstimulation, desensitization, and internalization. Moreover, cannabidiol affects DNA methylation, serotonin 5HT(1A) signal transduction, gamma-aminobutyric acid receptor signaling, and dopamine D(2) and D(3) receptor signaling, which may contribute to beneficial effects in patients with FXS. Consistent with these proposed mechanisms of action of cannabidiol in FXS, in the CONNECT-FX trial the transdermal cannabidiol gel, ZYN002, was associated with improvements in measures of social avoidance, irritability, and social interaction, particularly in patients who are most affected, showing ≥90% methylation of the FMR1 gene.

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14. Panchal SK, Brown L. Potential Benefits of Anthocyanins in Chronic Disorders of the Central Nervous System. Molecules (Basel, Switzerland). 2022; 28(1).

Anthocyanins have been shown to be effective in chronic diseases because of their antioxidant and anti-inflammatory effects together with changes in the gut microbiota and modulation of neuropeptides such as insulin-like growth factor-1. This review will examine whether these mechanisms may be effective to moderate the symptoms of disorders of the central nervous system in humans, including schizophrenia, Parkinson’s disease, Alzheimer’s disease, autism spectrum disorder, depression, anxiety, attention-deficit hyperactivity disorder and epilepsy. Thus, anthocyanins from fruits and berries should be considered as complementary interventions to improve these chronic disorders.

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15. Rizk S, Ngui E, Benevides TW, Moerchen VA, Khetani M, Barnekow K. Is medical home care adequacy associated with educational service use in children and youth with autism spectrum disorder (ASD)?. BMC pediatrics. 2023; 23(1): 12.

BACKGROUND: The American Academy of Pediatrics (AAP) recommends medical home care for children and youth with autism spectrum disorder (ASD) for health needs. Children and youth with ASD also receive educational services for cognitive, social, and behavioral needs. We measured whether inadequate medical home care was significantly associated with current educational service use, controlling for sociodemographic factors. METHODS: We analyzed the 2016/2017 National Survey of Children’s Health (NSCH) on 1,248 children and youth with ASD ages 1-17. Inadequate medical home care was operationalized as negative or missing responses to at least one medical home component. Educational service use was defined as current service use under individualized family service plans (IFSP) and individualized education programs (IEP). RESULTS: Inadequate medical home care was significantly associated with higher likelihood of current educational service use (aOR = 1.95, 95% CI [1.10, 3.44], p = 0.03). After adjustment, older children (aOR = 0.91, 95% CI [0.84, 0.99], p = 0.03), lower maternal health (aOR = 0.52, 95% CI [0.29, 0.94], p = 0.03), and children without other special health care factors (aOR = 0.38, 95% CI [0.17-0.85], p = 0.02) had significantly lower odds of current educational service use. CONCLUSIONS: Inadequate medical home care yielded higher odds of current educational service use. Child’s age, maternal health, and lack of other special health care factors were associated with lower odds of current educational service use. Future research should examine medical home care defined in the NSCH and improving educational service use via medical home care.

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16. Romano A, Ippolito E, Favetta M, Lotan M, Moran DS. Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome-A Single-Cohort Study. International journal of environmental research and public health. 2022; 20(1).

BACKGROUND: Gross motor function in Rett syndrome (RTT) is always limited. The complex clinical picture typical of most people with RTT requires intensive and specific rehabilitation programs. Previous reports on remotely supervised motor activity programs suggested positive outcomes for this population. The current article describes the impact of a remote-supervised motor activity program carried out by family members of individuals with RTT on achieving rehabilitation goals and improving gross and fine motor functioning and daily physical activity. METHODS: Forty subjects with RTT followed a three-month remotely supervised motor activity program carried out by their family members at home after a three-month baseline period. After the end of the intervention, a three-month wash-out period was implemented. Rehabilitation goal achievement, motor functioning, and level of daily physical activity were measured. RESULTS: 82.4% of rehabilitation goals were achieved or overachieved. Participants’ motor functioning and physical activity significantly increased after the intervention (p ˂ 0.001). Improvements were maintained after the wash-out phase. CONCLUSIONS: The proposed intervention was effective for people with RTT of various ages and severity levels. The results highlight the need for lifelong, individualized, daily based, and professionally supervised rehabilitation possibilities for individuals with RTT.

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17. Roux AM, Shea LL, Steinberg H, Rast JE, Anderson KA, Hotez E, Rosenau K, Kuo A, Assing-Murray E, Shattuck PT. Evidence from the Autism Transitions Research Project (2017-2022): Capstone review and services research recommendations. Autism research : official journal of the International Society for Autism Research. 2023.

Few funding sources have explicitly supported systems-wide research to identify mechanisms for improving access, service delivery, outcomes and wellbeing for autistic transition-age youth and young adults. We aimed to integrate findings from research produced through a five-year federal Autism Transition Research Project (ATRP) cooperative agreement. This capstone review sought to: (1) map the body of scientific evidence that emerged from this federal award, and (2) identify remaining evidence gaps to inform future autism transition services research. We used scoping review methods to assess 31 ATRP-funded published scientific studies. We charted study characteristics, topical domains, socio-ecological levels of variables, focus on equity, and inclusion of autistic participants. We evaluated how these topics were addressed across studies to identify continued gaps in the evidence base. Compared to prior published reviews and research agendas, we found improvements in characterization of study participants, broader examination of socio-ecological correlates, and examination of multiple outcome domains. However, we also identified continued deficits in inclusion of autistic study participants, use of multisectoral data, and research with a strong focus on equity. Our recommended priorities for autism transition services research to facilitate healthy life outcomes and wellbeing included: continued analysis of population-level data and improved data infrastructure; development of service delivery methods and interventions that target marginalized groups; expanded research to inform improvements in the performance and coordination of complex service ecosystems that interface with autistic youth; and bolstering the roles of autistic research participants.

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18. Spinazzi NA, Velasco AB, Wodecki DJ, Patel L. Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers. Journal of autism and developmental disorders. 2023.

This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers’ initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

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19. Upadhyaya S, Ståhlberg T, Silwal S, Arrhenius B, Sourander A. Maternal Vitamin D Levels during Pregnancy and Offspring Psychiatric Outcomes: A Systematic Review. International journal of molecular sciences. 2022; 24(1).

Prenatal exposure to vitamin D may play a significant role in human brain development and function. Previous epidemiological studies investigating the associations between maternal vitamin D status and offspring developmental and psychiatric outcomes in humans have been inconclusive. We aimed to systematically assess the results of previously published studies that examined the associations between maternal vitamin D levels, measured as circulating 25(OH)D levels in pregnancy or at birth, and offspring neuropsychiatric and psychiatric outcomes. Systematic searches were conducted using MEDLINE, Embase, PsychINFO and Web of Science for studies published by 10 August 2022. We included human observational studies that examined associations between prenatal or perinatal vitamin D levels and offspring neuropsychiatric and psychiatric outcomes and were published in English in peer-reviewed journals. Of the 3729 studies identified, 66 studies were screened for full texts and 29 studies published between 2003 and 2022 were included in the final review. There was a small amount of evidence for the association between prenatal vitamin D deficiency and autism spectrum disorder. When studies with larger sample sizes and stricter definitions of vitamin D deficiency were considered, positive associations were also found for attention-deficit/hyperactivity disorder and schizophrenia. Future studies with larger sample sizes, longer follow-up periods and prenatal vitamin D assessed at multiple time points are needed.

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20. Varela RE, Vinet E, Kamps J, Niditch L. Pre- and Perinatal Risk Factors for Youth with Autism Spectrum Disorder Versus Youth with Other Mental Health Disorders. Journal of autism and developmental disorders. 2023.

Research has linked pre- and perinatal complications (PPCs) with increased risk for autism spectrum disorder (ASD). However, PPCs are also known risk factors for other mental health disorders. This study explored which PPCs are specific risk factors for ASD, as opposed to other forms of psychopathology, among a large sample of clinically-referred youth. Archival data were used from 1177 youth who were evaluated at a hospital-based autism clinic. Results from logistic regressions indicated that use of tobacco, alcohol, or drugs, or experiencing amniocentesis predicted inclusion in the non-ASD group, while physical difficulties with delivery predicted inclusion in the ASD group. Possible explanations and implications for these findings are discussed.

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