1. Alenezi S, Alnemary F, Alamri A, Albakr D, Abualkhair L. Psychotropic Medications Use among Children with Autism in Saudi Arabia. Children (Basel);2022 (Jun 28);9(7)

Psychotropic medication use is rising among children with autism spectrum disorders (ASD) in Saudi Arabia. Two hundred ninety-three parents of children diagnosed with ASD completed a parental concerns questionnaire (PCQ) online to examine children’s family socio-demographics, health conditions and comorbidities, and past and current exposure to psychotropic medication as prescribed by their primary doctor. Findings revealed that more than one-third of the parents (39.08%) reported that their children were using medications at the time of the survey; risperidone (53%), methylphenidate (30%), and valproic acid (9%) were the most commonly used. A smaller number of parents stated that their children had previously used medications (16.09%). The most often prescribed drugs among this group were risperidone (45%), followed by methylphenidate (32%) and valproic acid (17%). The variables that showed a statistically significant association with the current use of psychotropic drugs were the child’s age (OR = 1.25, 95% CI: 1.12, 1.40, p < 0.001), presence of comorbidities (OR = 7.75, 95% CI: 3.48, 17.24, p < 0.001), communication difficulties (OR = 1.79, 95% CI: 1.09, 2.95, p < 0.021), and anxiety symptoms (OR = 1.70, 95% CI: 1.00, 2.87, p < 0.049). Similarly, the child’s age (OR = 1.23, 95% CI: 1.08, 1.40, p < 0.002) and presence of comorbidities (OR = 2.83, 95% CI: 1.16, 6.29, p < 0.022) showed statistically significant associations with previous use.

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2. Alfawaz HA, El-Ansary A, Al-Ayadhi L, Bhat RS, Hassan WM. Protective Effects of Bee Pollen on Multiple Propionic Acid-Induced Biochemical Autistic Features in a Rat Model. Metabolites;2022 (Jun 21);12(7)

Autism spectrum disorders (ASDs) are neurodevelopmental disorders that clinically presented as impaired social interaction, repetitive behaviors, and weakened communication. The use of bee pollen as a supplement rich in amino acids amino acids, vitamins, lipids, and countless bioactive substances may lead to the relief of oxidative stress, neuroinflammation, glutamate excitotoxicity, and impaired neurochemistry as etiological mechanisms autism. Thirty young male Western albino rats were randomly divided as: Group I-control; Group II, in which autism was induced by the oral administration of 250 mg propionic acid/kg body weight/day for three days followed by orally administered saline until the end of experiment and Group III, the bee pollen-treated group, in which the rats were treated with 250 mg/kg body weight of bee pollen for four weeks before autism was induced as described for Group II. Markers related to oxidative stress, apoptosis, inflammation, glutamate excitotoxicity, and neurochemistry were measured in the brain tissue. Our results indicated that while glutathione serotonin, dopamine, gamma-aminobutyric acid (GABA), GABA/Glutamate ratio, and vitamin C were significantly reduced in propionic acid-treated group (p < 0.05), glutamate, IFN-γ, IL-1A, IL-6, caspase-3, and lipid peroxide levels were significantly elevated (p < 0.05). Bee pollen supplementation demonstrates protective potency presented as amelioration of most of the measured variables with significance range between (p < 0.05)-(p < 0.001).

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3. Alfieri P, Scibelli F, Montanaro FAM, Digilio MC, Ravà L, Valeri G, Vicari S. Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal Study. Genes (Basel);2022 (Jul 16);13(7)

BACKGROUND: The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams-Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajectories. Studies have revealed similarities in global adaptive profiles across conditions, while some differences have been found in preschoolers on the specific sub-domains of communication and socialization. However, the majority of studies that have focused on the differences in adaptive functioning across these two conditions used a cross-sectional design. To the best of our knowledge, there are no studies exploring the differences and similarities of adaptive functioning over time. METHODS: We compared longitudinal data of adaptive functioning measured by Vineland Adaptive Behavior Scales (VABS) between two samples of children and adolescents with ASD and WBS, matched for chronological age and cognitive/developmental level at the time of the first evaluation. RESULTS AND CONCLUSIONS: We did not find any difference on the global adaptive level, both at the first evaluation and over time. However, significant differences emerged on the socialization and communication levels at the time of recruitment. Longitudinal data show that only the socialization domain remains different over time, with individuals with WBS having better functioning than those with ASD. The results on shared and distinct patterns of adaptive functioning between disorders are discussed from a developmental perspective, thus contributing to the implementation of age-specific interventions.

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4. AlOlaby RR, Zafarullah M, Barboza M, Peng G, Varian BJ, Erdman SE, Lebrilla C, Tassone F. Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri. Genes (Basel);2022 (Jul 22);13(8)

Environmental factors such as diet, gut microbiota, and infections have proven to have a significant role in epigenetic modifications. It is known that epigenetic modifications may cause behavioral and neuronal changes observed in neurodevelopmental disabilities, including fragile X syndrome (FXS) and autism (ASD). Probiotics are live microorganisms that provide health benefits when consumed, and in some cases are shown to decrease the chance of developing neurological disorders. Here, we examined the epigenetic outcomes in offspring mice after feeding of a probiotic organism, Lactobacillus reuteri (L. reuteri), to pregnant mother animals. In this study, we tested a cohort of Western diet-fed descendant mice exhibiting a high frequency of behavioral features and lower FMRP protein expression similar to what is observed in FXS in humans (described in a companion manuscript in this same GENES special topic issue). By investigating 17,735 CpG sites spanning the whole mouse genome, we characterized the epigenetic profile in two cohorts of mice descended from mothers treated and non-treated with L. reuteri to determine the effect of prenatal probiotic exposure on the prevention of FXS-like symptoms. We found several genes involved in different neurological pathways being differentially methylated (p ≤ 0.05) between the cohorts. Among the key functions, synaptogenesis, neurogenesis, synaptic modulation, synaptic transmission, reelin signaling pathway, promotion of specification and maturation of neurons, and long-term potentiation were observed. The results of this study are relevant as they could lead to a better understanding of the pathways involved in these disorders, to novel therapeutics approaches, and to the identification of potential biomarkers for early detection of these conditions.

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5. Amer YS, Alenezi S, Bashiri FA, Alawami AH, Alhazmi AS, Aladamawi SA, Alnemary F, Alqahtani Y, Buraik MW, AlSuwailem SS, Akhalifah SM, Augusta de Souza Pinhel M, Penner M, Elmalky AM. AGREEing on Clinical Practice Guidelines for Autism Spectrum Disorders in Children: A Systematic Review and Quality Assessment. Children (Basel);2022 (Jul 14);9(7)

BACKGROUND: Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder requiring multimodal intervention and an army of multidisciplinary teams for a proper rehabilitation plan. Accordingly, multiple practice guidelines have been published for different disciplines. However, systematic evidence to detect and intervene must be updated regularly. Our main objective is to compare and summarize the recommendations made in the clinical practice guidelines (CPGs) for ASD in children released from November 2015 to March 2022. METHODS: CPGs were subjected to a systematic review. We developed the inclusion and exclusion criteria and health-related questions, then searched and screened for CPGs utilizing bibliographic and CPG databases. Each of the CPGs used in the study were critically evaluated using the Appraisal of Guidelines for REsearch and Evaluation II (AGREE II) instrument. In a realistic comparison table, we summarized the recommendations. RESULTS: Four eligible CPGs were appraised: Australian Autism CRC (ACRC); Ministry of Health New Zealand (NZ); National Institute for Health and Care Excellence (NICE); and Scottish Intercollegiate Guidelines Network, Healthcare Improvement Scotland (SIGN-HIS). The overall assessments of all four CPGs scored greater than 80%; these findings were consistent with the high scores in the six domains of AGREE II, including: (1) scope and purpose, (2) stakeholder involvement, (3) rigor of development, (4) clarity of presentation, (5) applicability, and (6) editorial independence domains. Domain (3) scored 84%, 93%, 86%, and 85%; domain (5) 92%, 89%, 54%, and 85%; and domain (6) 92%, 96%, 88%, and 92% for ACRC, NICE, NZ, and SIGN-HIS, respectively. Overall, there were no serious conflicts between the clinical recommendations of the four CPGs, but some were more comprehensive and elaborative than others. CONCLUSIONS: All four assessed evidence-based CPGs demonstrated high methodological quality and relevance for use in practice.

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6. Baroncelli L, Auel S, Rinne L, Schuster AK, Brand V, Kempkes B, Dietrich K, Müller M. Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment. Antioxidants (Basel);2022 (Jul 20);11(7)

Rett syndrome (RTT) is a severe neurodevelopmental disorder that typically arises from spontaneous germline mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. For the first 6-18 months of life, the development of the mostly female patients appears normal. Subsequently, cognitive impairment, motor disturbances, hand stereotypies, epilepsy, and irregular breathing manifest, with previously learned skills being lost. Early mitochondrial impairment and a systemic oxidative burden are part of the complex pathogenesis, and contribute to disease progression. Accordingly, partial therapeutic merits of redox-stabilizing and antioxidant (AO) treatments were reported in RTT patients and Mecp2-mutant mice. Pursuing these findings, we conducted a full preclinical trial on male and female mice to define the therapeutic value of an orally administered AO cocktail composed of vitamin E, N-acetylcysteine, and α-lipoic acid. AO treatment ameliorated some of the microcephaly-related aspects. Moreover, the reduced growth, lowered blood glucose levels, and the hippocampal synaptic plasticity of Mecp2(-/y) mice improved. However, the first-time detected intensified oxidative DNA damage in Mecp2-mutant cortex persisted. The behavioral performance, breathing regularity, and life expectancy of Mecp2-mutant mice did not improve upon AO treatment. Long-term-treated Mecp2(+/-) mice eventually became obese. In conclusion, the AO cocktail ameliorated a subset of symptoms of the complex RTT-related phenotype, thereby further confirming the potential merits of AO-based pharmacotherapies. Yet, it also became evident that long-term AO treatment may lose efficacy and even aggravate the metabolic disturbances in RTT. This emphasizes the importance of a constantly well-balanced redox balance for systemic well-being.

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7. Bitan M, Regev D. Clinicians’ Perceptions of Parent-Child Arts Therapy with Children with Autism Spectrum Disorders: The Milman Center Experience. Children (Basel);2022 (Jun 29);9(7)

Different types of arts offer a wide variety of modes of nonverbal communication and expressive tools for children with Autism Spectrum Disorders (ASD). The present study was designed to characterize therapists’ perspectives on the implementation of a parent-child arts therapy model for children with ASD. Semi-structured interviews were conducted with 13 arts therapists who participated in the study. The thematic analysis (qualitative analysis) approach yielded seven themes: (1) Therapeutic goals. (2) Adjusting the therapeutic intervention. (3) The advantages of parent-child arts therapy. (4) Difficulties in parent-child arts therapy. (5) The unique contribution of the participants to parent-child arts therapy. (6) The different types of arts in the therapy room. (7) The arts therapists’ assessment of the progress of therapy. The discussion focuses on the four central components of parent-child arts therapy room: the child in therapy, the parent, the arts therapist, and the creative arts.

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8. Brien A, Hutchins T. Development of a Manualized Intervention to Support Episodic Memory in Autistic Children: Elaborative Reminiscing Is Key. Semin Speech Lang;2022 (Aug);43(4):299-315.

Episodic memory (EM) is memory for past personal experiences. EM and social development are inextricably linked, and both are impacted in autistic persons. Parents of autistic children can be taught to engage in a unique conversational style (i.e., elaborative reminiscing) to support a child’s memory and social development. This article discusses the importance of EM in autism and describes a new manualized caregiver training to support EM in autistic children. An uncontrolled pre-post study design was employed to test proof of concept. Results affirmed the potential of this intervention for increasing caregivers’ elaborateness and improving children’s EM in a family-centered, naturalistic way. Results suggest that further treatment development and examination of effectiveness are needed. We argue that these kinds of intervention are important: not only is EM theoretically potent for social cognitive development, it is essential for a sense of self-determination, social connection, and psychological well-being.

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9. Calabrò RS, Pioggia G, Contrada M, Cerasa A. Sexual Coach in High-Functioning Autism: A Growing Need. Brain Sci;2022 (Jul 22);12(8)

When individuals with autism spectrum disorders (ASD) reach adulthood, they may experience a set of challenges related to sexual health, dating and romantic relationships […].

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10. Castañares C, Bagatolli L, Folguera G. [A philosophical analysis of the neuroscientific conception of autistic traits: contributions from Georges Canguilhem’s biological normativity]. Salud Colect;2021 (Dec 20);17:e3809.

Taking Georges Canguilhem’s 1943 book The normal and the pathological as a starting point, this article explores the ways in which the neurosciences define, validate, and legitimize the existence of autistic traits as a subclinical expression of autism. The general hypothesis is that different assumptions based on a naturalistic perspective of health and disease have become consolidated in the specialized literature. Such assumptions include that behaviors should be explained strictly in biological terms, that there is an objective and statistical parameter of normality, and that individuals’ behaviors can be analyzed independently of their context. Based on some aspects of Canguilhem’s arguments regarding health, normality, and normativity, we analyze the ways in which the neurosciences assign a quasi-pathological quality to the descriptive notion of autistic traits. It is possible to conclude that this process involves certain assumptions taken in an aprioristic and uncritical manner, which inhibits the discussion of key aspects associated with the nature of autism and that end up pathologizing differences between people.

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11. Cervantes PE, Conlon GR, Seag DE, Feder M, Lang Q, Meril S, Baroni A, Li A, Hoagwood KE, Horwitz SM. Mental health service availability for autistic youth in New York City: An examination of the developmental disability and mental health service systems. Autism;2022 (Jul 27):13623613221112202.

Autistic children and adolescents experience high rates of co-occurring mental health conditions, including depression and suicidality, which are frequently identified by stakeholders as treatment priorities. Unfortunately, accessing community-based mental health care is often difficult for autistic youth and their families. The first obstacle families confront is finding a provider that offers mental health treatment to autistic youth within the many service systems involved in supporting the autism community. The mental health and developmental disability systems are two of the most commonly accessed, and previous work has shown there is often confusion over which of these systems is responsible for providing mental health care to autistic individuals. In this study, we conducted a telephone survey to determine the availability of outpatient mental health services for autistic youth with depressive symptoms or suicidal thoughts or behaviors in New York City across the state’s mental health and developmental disability systems. Results showed that while a greater percentage of clinics in the mental health system compared with in the developmental disability system offered outpatient mental health services to autistic youth (47.1% vs 25.0%), many more did not offer care to autistic youth and there were very few options overall. Therefore, it is important that changes to policy are made to increase the availability of services and that mental health care providers’ knowledge and confidence in working with autistic youth are improved.

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12. Chandler S, Carter Leno V, White P, Yorke I, Hollocks MJ, Baird G, Pickles A, Simonoff E, Charman T. Pathways to adaptive functioning in autism from early childhood to adolescence. Autism Res;2022 (Jul 28)

Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. This study examines longitudinal and contemporaneous associations of adaptive functioning in autistic youth across a wide ability range. Parent-reported autism symptoms, co-occurring emotional, behavioral and attention deficit hyperactivity disorder (ADHD) symptoms, and IQ were assessed in early childhood (M age 7 years; T1) and 6 years later in adolescence (M age 13 years; T2) in 179 autistic youth. Adaptive functioning was assessed at T2. Structural equation modeling estimated pathways to adaptive functioning from autism, and psychiatric symptoms at T1 and T2, testing whether associations were driven by continuity of behaviors from T1 to T2 or their contemporaneous effect at T2, or both, controlling for T1 IQ. Lower adaptive functioning at T2 was associated with higher T1 and T2 ADHD symptoms (β = -0.14, and β = -0.21) but not behavioral nor emotional symptoms at either timepoint. Lower adaptive functioning at T2 was also associated with lower T1 IQ (β = 0.43) and higher social communication symptoms (β = -0.37) at T2 but not T1, but the relationship with ADHD symptoms remained. Paths were not moderated by sex or IQ. Increased symptoms of ADHD, both in early childhood and contemporaneously, were associated with reduced adaptive functioning in adolescence. Co-occurring ADHD may be a modifiable risk factor for adaptive function impairments and should be routinely assessed and when present evidence-based treatments initiated which may benefit adaptive functioning outcomes. LAY SUMMARY: Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. In a community sample higher attention deficit/hyperactivity disorder (ADHD) symptoms, but not emotional or behavioral symptoms, in both early childhood and contemporaneously were associated with lower adaptive functioning in autistic adolescents. Co-occurring ADHD may be a modifiable risk factor for adaptive function difficulties in autism.

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13. Crooke PJ, Winner MG. Social Thinking Metacognitive Strategies to Support Self-Determined Social Goals in Autistic Youth. Semin Speech Lang;2022 (Aug);43(4):277-298.

On any given day, the social mind is taxed with attending to and making sense of a myriad of social events. The social mind is at work when trying to imagine the experiences of others and their inner mental worlds, and is equally active when people seek to approach, connect with, and sometimes avoid one another. Ultimately, the social mind is responsible for thinking about (social) thinking, or social metacognition. Social metacognitive teaching strategies can be helpful for supporting social learners as they observe social landscapes, interpret what is observed to problem solve, or decide whether and how to produce social responses. This article describes how social metacognitive strategies from the Social Thinking Methodology have been used to support the self-determined social goals of two autistic students. Visual frameworks and their underlying theories are provided as evidence-aligned tools for supporting clinical journeys.

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14. Diemer MC, Gerstein ED, Regester A. Autism presentation in female and Black populations: Examining the roles of identity, theory, and systemic inequalities. Autism;2022 (Jul 28):13623613221113501.

Although the prevalence of autism has been rising in recent years, disparities in diagnosis still remain. Female and Black populations in the United States are diagnosed later, are more likely to have an intellectual disability, and are excluded from research as well as services designed for autistic individuals. Autistic Black girls are effectively invisible in the current scientific literature. Intersectional theory, which looks at a person as a whole, examines models that are inclusive toward diverse gender, ability, and racial/ethnic backgrounds. This theory may be a useful approach to clinical and research work with autism so that practitioners may be most effective for the whole population of autistic people. The authors recommend research focusing on inclusion of autistic populations with intellectual disability and research studies that include evaluations as part of the procedure. Clinically, the authors recommend a focus on screening all young children for autism and improving provider knowledge in working with diverse autistic populations.

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15. Dougnon G, Matsui H. Modelling Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) Using Mice and Zebrafish. Int J Mol Sci;2022 (Jul 7);23(14)

Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two debilitating neurodevelopmental disorders. The former is associated with social impairments whereas the latter is associated with inattentiveness, hyperactivity, and impulsivity. There is recent evidence that both disorders are somehow related and that genes may play a large role in these disorders. Despite mounting human and animal research, the neurological pathways underlying ASD and ADHD are still not well understood. Scientists investigate neurodevelopmental disorders by using animal models that have high similarities in genetics and behaviours with humans. Mice have been utilized in neuroscience research as an excellent animal model for a long time; however, the zebrafish has attracted much attention recently, with an increasingly large number of studies using this model. In this review, we first discuss ASD and ADHD aetiology from a general point of view to their characteristics and treatments. We also compare mice and zebrafish for their similarities and discuss their advantages and limitations in neuroscience. Finally, we summarize the most recent and existing research on zebrafish and mouse models of ASD and ADHD. We believe that this review will serve as a unique document providing interesting information to date about these models, thus facilitating research on ASD and ADHD.

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16. Dweik A, Al-Hilli Y, Tawfeeq Y, Varghese J, Vo T. Traumatic Macroglossia in a Patient With Rett Syndrome. Cureus;2022 (Jun);14(6):e26172.

Traumatic macroglossia is a rare condition characterized by a sudden edematous swelling of the tongue due to trauma that can progress into upper airway obstruction and asphyxia. We are presenting a case of a 20-year-old female with medical history significant for Rett syndrome who developed severe tongue swelling after multiple attempts of intubation secondary to low Glasgow Coma Scale (GCS) from a high dose of benzodiazepines. Traumatic macroglossia in this case was worsened further by uncontrolled bruxism. Multiple approaches were made to control the situation including placement of bite block, use of paralytics, and steroids. Multiple cases were reported about traumatic macroglossia but our case was unique in the sense that our patient did not respond well to conservative medical therapy and surgical approach was not possible as it was set to be done in a tertiary center; however, transferring the patient was not possible with the COVID-19 pandemic as hospitals were on diversion.

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17. Edelson SM. Understanding Challenging Behaviors in Autism Spectrum Disorder: A Multi-Component, Interdisciplinary Model. J Pers Med;2022 (Jul 12);12(7)

A multi-component, interdisciplinary model is described which explains the presence of, and in other cases the lack of, many challenging behaviors associated with autism spectrum disorder (ASD). More specifically, the model expands the operant behavioral conditioning paradigm by taking into account medical comorbidities and interoceptive processing.

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18. Florea T, Palimariciuc M, Cristofor AC, Dobrin I, Chiriță R, Bîrsan M, Dobrin RP, Pădurariu M. Oxytocin: Narrative Expert Review of Current Perspectives on the Relationship with Other Neurotransmitters and the Impact on the Main Psychiatric Disorders. Medicina (Kaunas);2022 (Jul 11);58(7)

Is a cyclic neuropeptide produced primarily in the hypothalamus and plays an important neuromodulatory role for other neurotransmitter systems, with an impact on behavior, response to danger, stress, and complex social interactions, such as pair bonding and child care. This narrative expert review examines the literature on oxytocin as a brain hormone. We focused on oxytocin structure, distribution, genetics, and the oxytocin receptor system, as well as the relationship of oxytocin with other neurotransmitters and the resulting impacts on the main psychiatric disorders. Oxytocin levels have been correlated over time with mental illness, with numerous studies focusing on oxytocin and the pathophysiology of the main psychiatric disorders, such as autism, schizophrenia, personality disorders, mood, and eating disorders. We highlight the role oxytocin plays in improving symptoms such as anxiety, depression, and social behavior, as the literature suggests. Risk factors and causes for psychiatric disorders range from genetic to environmental and social factors. Oxytocin could impact the latter, being linked with other neurotransmitter systems that are responsible for integrating different situations during the development phases of individuals. Also, these systems have an important role in how the body responds to stressors or bonding with others, helping with the creation of social support groups that could speed up recovery in many situations. Oxytocin has the potential to become a key therapeutic agent for future treatment and prevention strategies concerning the main psychiatric disorders.

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19. Fortier AV, Meisner OC, Nair AR, Chang SWC. Prefrontal Circuits guiding Social Preference: Implications in Autism Spectrum Disorder. Neurosci Biobehav Rev;2022 (Jul 28):104803.

Although Autism Spectrum Disorder (ASD) is increasing in diagnostic prevalence, treatment options are inadequate largely due to limited understanding of ASD’s underlying neural mechanisms. Contributing to difficulties in treatment development is the vast heterogeneity of ASD, from physiological causes to clinical presentations. Recent studies suggest that distinct genetic and neurological alterations may converge onto similar underlying neural circuits. Therefore, an improved understanding of neural circuit-level dysfunction in ASD may be a more productive path to developing broader treatments that are effective across a greater spectrum of ASD. Given the social preference behavioral deficits commonly seen in ASD, dysfunction in circuits mediating social preference may contribute to the atypical development of social cognition. We discuss some of the animal models used to study ASD and examine the function and effects of dysregulation of the social preference circuits, notably the medial prefrontal cortex-amygdala and the medial prefrontal cortex-nucleus accumbens circuits, in these animal models. Using the common circuits underlying similar behavioral disruptions of social preference behaviors as an example, we highlight the importance of identifying disruption in convergent circuits to improve the translational success of animal model research for ASD treatment development.

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20. Gasser B, Kurz J, Escher G, Mistry HD, Mohaupt MG. Androgens Tend to Be Higher, but What about Altered Progesterone Metabolites in Boys and Girls with Autism?. Life (Basel);2022 (Jul 7);12(7)

BACKGROUND: Evidence exists that steroid hormones are altered in individuals with autism, especially androgens. Despite lower prevalence in girls than boys, evidence of potential alterations in progesterone metabolites is sparse, so the aim of this study was to elucidate different progesterone metabolites in affected children with autism versus healthy controls. MATERIAL AND METHODS: Circadian urine samples from 48 boys and 16 girls with autism spectrum disorders and a matched case-control group were analysed for progesterone metabolites by gas chromatography-mass spectrometry and normalised for creatinine excretion. RESULTS: In boys with autism, the majority of progesterone metabolites were reduced, such as progesterone, 6a-OH-3a5b-TH-progesterone, or 20a-DH-progesterone (p < 0.01 for all). In girls with autism, a similar pattern of reduction in progesterone metabolites was detected; however, potentially due to the relatively small sample, this pattern was only detectable on the level of a trend. DISCUSSION: As stated, androgen levels are higher in boys and girls with autism, but evidence for progesterone metabolites is much sparser. The pattern of a decrease in progesterone metabolites suggests the existence of an altered routing of steroid metabolites, probably in combination with a dysregulation of the HPAG axis. As, recently, increased CYP17A1 activity has been suggested, the stronger routing towards androgens is further implied in line with our findings of lower progesterone concentrations in boys and girls with autism than healthy controls.

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21. Guiducci L, Vassalle C, Prosperi M, Santocchi E, Morales MA, Muratori F, Calderoni S. Vitamin D Status in Children with Autism Spectrum Disorders: Determinants and Effects of the Response to Probiotic Supplementation. Metabolites;2022 (Jul 1);12(7)

A relationship between the presence of clinical symptoms and gastrointestinal (GI) disturbances associated with nutritional deficiencies, including vitamin D (25(OH)D) deficiency, has been observed in autism spectrum disorder (ASD). The aim was to evaluate 25(OH)D levels according to the annual rhythm cycle, gender, the severity of autism, nutritional or clinical status, inflammatory and metabolic biomarkers, GI symptoms, and the clinical response to probiotic/placebo supplementation in preschooler children with ASD. Eighty-one ASD preschoolers (67 males) were assessed with standardized tools for ASD severity (ADOS score) and GI symptoms (by GI-Index at six-items and at nine-items, the latter defined as the Total GI-Index). The 25(OH)D levels were compared among different ASD subgroups according to metabolic and inflammatory biomarkers (leptin, insulin, resistin, PAI-1, MCP-1, TNF-alfa, and IL-6), gender, and the presence or absence of: (i) GI symptoms, (ii) the response to probiotic supplementation (the improvement of GI symptomatology), (iii) the response to probiotic supplementation (improvement of ASD severity). Only 25% of the ASD children presented an adequate 25(OH)D status (≥30 ng/mL according to the Endocrine Society guidelines). All the 25(OH)D levels falling in the severe deficiency range (<10 ng/mL) were observed in the male subgroup. A significant inverse correlation between 25(OH)D and leptin was observed (R = -0.24, p = 0.037). An inverse correlation was found between 25(OH)D levels and the GI Index 6-Items and Total GI-Index (R = -0.25, p = 0.026; -0.27, = 0.009) and a direct relationship with the probiotic response (R = 0.4, p = 0.05). The monitoring of 25(OH)D levels and the co-administration of 25(OH)D and probiotic supplementation could be considered in ASD from early ages.

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22. He B, Wongpakaran T, Wongpakaran N, Wedding D. Marital Satisfaction and Perceived Family Support in Families of Children with Autistic Spectrum Disorder: Dyadic Analysis. Healthcare (Basel);2022 (Jun 30);10(7)

BACKGROUND: Raising children with autism spectrum disorder (ASD) causes tremendous stress for parents that may lead to marital conflict and relationship dissatisfaction. Many factors are associated with parent relationships including severity of autistic behaviors and social support. This study aimed to investigate whether severity of autistic behaviors, perceived family support, and complementarity of interpersonal styles between husbands and wives predicted couple satisfaction among the parents of children with ASD. METHOD: Seven hundred ninety-seven parent dyads of children aged 7-14 years old with ASD participated in the study. Measurements used included couple satisfaction index, perceived family support using the Multidimensional Scale of Perceived Social Support, inter-personal style using the inventory of interpersonal problems, the ABC autism checklists as well as sociodemographic and related factors. The Actor Partner Interdependence Model estimated by multilevel modeling was used for analysis. RESULTS: Perceived family support was relevant in married couples regarding their marital relationship, but the effects on husbands and wives differed. Husbands’ relationship satisfaction was predicted by how they perceived being supported by family. The severity of autistic behaviors predicted relationship satisfaction but only actor effect. Negative prediction of interpersonal complementarity on couple satisfaction was observed. In addition, time spent on raising children had a negative impact on the quality of the relationship. Partner effect of time spent was observed among women. CONCLUSION: Dyadic analysis using an actor-partner independence model confirmed perception of family support predicts relationship satisfaction among parents of children with ASD in addition to the severity of autistic behaviors and time spent caring for children. Complementarity of individual interpersonal style had no effect on couple satisfaction. This research suggests implications for interventions regarding building skills that elicit support from family members.

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23. Hutchins TL. A Review of the Nature and Development of Humor Appreciation and Considerations for Teaching Humor to Autistic Persons. Semin Speech Lang;2022 (Aug);43(4):347-360.

The development of humor is complex and heterogeneous within and across neurotypical and neurodivergent groups. Some autistics develop differences (not deficits) in humor appreciation, whereas others report difficulties « getting the joke » and identify this as in need of support. This is important because humor appreciation and comprehension are linked to psychological well-being and social success. This article describes the therapeutic potential for teaching humor comprehension to autistic persons and the benefit of broader education efforts to forge an understanding of the value of « different senses of humor. » The nature and development of humor comprehension in neurotypical development and autism are reviewed. Considerations for whether and how to teach humor comprehension are offered that maximize goodness-of-fit, prioritize autistic autonomy, and promote the sharing and appreciation of different kinds of « funny. »

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24. Hutchins TL. A Review of the Nature and Development of Lying and Deception and Considerations for Teaching Prosocial Lying to Autistic Persons. Semin Speech Lang;2022 (Aug);43(4):316-330.

Compared with their neurotypical (NT) counterparts, persons with autism appear to be less inclined to tell lies and less skilled in delivering sophisticated forms of deception. At the same time, some forms of deception like white lies and prosocial lies are frequent in human interaction because they are important for social success. This article challenges the reader to evaluate the therapeutic potential for prosocial deception and teaching white-lie telling to autistic persons. The nature and development of antisocial and prosocial lying in NT development and autism are reviewed. Considerations for when to (and when not to) teach the skill of empathic lying are discussed and recommendations for how to teach the comprehension and production of prosocial lies are offered.

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25. Jagadapillai R, Qiu X, Ojha K, Li Z, El-Baz A, Zou S, Gozal E, Barnes GN. Potential Cross Talk between Autism Risk Genes and Neurovascular Molecules: A Pilot Study on Impact of Blood Brain Barrier Integrity. Cells;2022 (Jul 15);11(14)

Autism Spectrum Disorder (ASD) is a common pediatric neurobiological disorder with up to 80% of genetic etiologies. Systems biology approaches may make it possible to test novel therapeutic strategies targeting molecular pathways to alleviate ASD symptoms. A clinical database of autism subjects was queried for individuals with a copy number variation (CNV) on microarray, Vineland, and Parent Concern Questionnaire scores. Pathway analyses of genes from pathogenic CNVs yielded 659 genes whose protein-protein interactions and mRNA expression mapped 121 genes with maximal antenatal expression in 12 brain regions. A Research Domain Criteria (RDoC)-derived neural circuits map revealed significant differences in anxiety, motor, and activities of daily living skills scores between altered CNV genes and normal microarrays subjects, involving Positive Valence (reward), Cognition (IQ), and Social Processes. Vascular signaling was identified as a biological process that may influence these neural circuits. Neuroinflammation, microglial activation, iNOS and 3-nitrotyrosine increase in the brain of Semaphorin 3F- Neuropilin 2 (Sema 3F-NRP2) KO, an ASD mouse model, agree with previous reports in the brain of ASD individuals. Signs of platelet deposition, activation, release of serotonin, and albumin leakage in ASD-relevant brain regions suggest possible blood brain barrier (BBB) deficits. Disruption of neurovascular signaling and BBB with neuroinflammation may mediate causative pathophysiology in some ASD subgroups. Although preliminary, these data demonstrate the potential for developing novel therapeutic strategies based on clinically derived data, genomics, cognitive neuroscience, and basic neuroscience methods.

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26. Jennings L, Basiri R. Amino Acids, B Vitamins, and Choline May Independently and Collaboratively Influence the Incidence and Core Symptoms of Autism Spectrum Disorder. Nutrients;2022 (Jul 14);14(14)

Autism spectrum disorder (ASD) is a developmental disorder of variable severity, characterized by difficulties in social interaction, communication, and restricted or repetitive patterns of thought and behavior. In 2018, the incidence of ASD was 2.4 times higher than estimated in 2000. Behavior and brain development abnormalities are present in the complex disorder of ASD. Nutritional status plays a key role in the incidence and severity of the core symptoms of ASD. The aim of this study was to review the available peer-reviewed studies that evaluated the relationship between amino acids, choline, B vitamins, and ASD incidence and/or severity of symptoms. Through examining plasma profiles, urine samples, and dietary intake, researchers found that low choline, abnormal amino acid, and low B vitamin levels were present in children with ASD compared to those without ASD. The evidence supports the need for future research that implements simultaneous supplementation of all essential nutrients in individuals with ASD and among prenatal mothers. Future evidence could lead to scientific breakthroughs, ultimately reducing the rates of ASD incidence and severity of symptoms by applying nutritional interventions in at-risk populations.

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27. Jurek L, Leadbitter K, Falissard B, Colin C, Touzet S, Geoffray MM. Parental experience of parent-mediated intervention for children with ASD: A systematic review and qualitative evidence synthesis. Autism;2022 (Jul 28):13623613221112204.

The effectiveness of parent-mediated interventions in the field of autism spectrum disorder is well documented but information on the experience of parents involved in parent-mediated interventions is limited.This study is the first synthesis of evidence concerning the experience of parents involved in parent-mediated interventions. It synthesizes the voice of 345 parents across the world into four general themes: barriers to implementation and logistical issues, feeling overwhelmed and stressed (a need for support), facilitators of implementation, and empowerment in the parent and improvement in the child.The findings of our study provide evidence that parent-mediated interventions should be adapted to the needs of each family. Specific care and support should be offered to parents in addition to parent-mediated interventions. Our study, however, highlights which outcomes are important to parents and should be considered in future studies.

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28. Lee D, Frey GC, Cothran DJ, Harezlak J, Shih PC. Effects of a Gamified, Behavior Change Technique-Based Mobile App on Increasing Physical Activity and Reducing Anxiety in Adults With Autism Spectrum Disorder: Feasibility Randomized Controlled Trial. JMIR Form Res;2022 (Jul 28);6(7):e35701.

BACKGROUND: Physical activity (PA) has an impact on physical and mental health in neurotypical populations, and addressing these variables may improve the prevalent burden of anxiety in adults with autism spectrum disorder (ASD). Gamified mobile apps using behavior change techniques present a promising way of increasing PA and reducing sedentary time, thus reducing anxiety in adults with ASD. OBJECTIVE: This study aimed to compare the effectiveness of a gamified and behavior change technique-based mobile app, PuzzleWalk, versus a commercially available app, Google Fit, on increasing PA and reducing sedentary time as an adjunct anxiety treatment for this population. METHODS: A total of 24 adults with ASD were assigned to either the PuzzleWalk or Google Fit group for 5 weeks using a covariate-adaptive randomization design. PA and anxiety were assessed over 7 days at 3 different data collection periods (ie, baseline, intervention start, and intervention end) using triaxial accelerometers and the Beck Anxiety Inventory. Group differences in outcome variables were assessed using repeated-measures analysis of covariance, adjusting for age, sex, and BMI. RESULTS: The findings indicated that the PuzzleWalk group spent a significantly longer amount of time on app use compared with the Google Fit group (F(2,38)=5.07; P=.01; partial η(2)=0.21), whereas anxiety was unfavorably associated with increases in light PA and decreases in sedentary time after intervention (all P<.05). CONCLUSIONS: Further research is needed to clarify the determinants of physical and mental health and their interrelationship in adults with ASD to identify the factors that facilitate the use and adoption of mobile health technologies in these individuals. Despite these mixed results, the small changes in PA or anxiety may be clinically significant for adults with ASD. TRIAL REGISTRATION: ClinicalTrials.gov NCT05466617; https://clinicaltrials.gov/show/NCT05466617.

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29. Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Complex Diagnostics of Non-Specific Intellectual Developmental Disorder. Int J Mol Sci;2022 (Jul 14);23(14)

Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia.

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30. MacKenzie KT, Mazefsky CA, Eack SM. Obtaining a First Diagnosis of Autism Spectrum Disorder: Descriptions of the Diagnostic Process and Correlates of Parent Satisfaction from a National Sample. J Autism Dev Disord;2022 (Jul 27)

Obtaining an autism spectrum disorder (ASD) diagnosis is often challenging for parents. The purpose of this study was to better understand this process and examine how elements of the process may influence parent satisfaction. A total of 406 parents of autistic children participated. Participants were administered a survey covering the ASD diagnostic process. Parents had developmental concerns early but experienced long wait times and usually attended many appointments. Mean diagnostic age was 3.26 years and overall delay was 1.20 years. Stress and being told there was « no problem » were significantly associated with parental satisfaction with the process. Findings provide insight into challenges experienced by families of autistic children and can help pinpoint areas where the diagnostic process may be improved.

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31. McDonald RG, Khawar S, Yacoub N, Cargill MI, Lerner MD, Kang E. Performance- and Theater-Based Interventions for Supporting Social Cognition and Social Communication in Autistic Youth: A Review and Theoretical Synthesis. Semin Speech Lang;2022 (Aug);43(4):255-276.

Social skills interventions (SSIs) are commonly used to improve social functioning in youth with autism spectrum disorder (ASD), which is a condition characterized by differences in social cognition and social communication. Although more traditional SSIs have used knowledge-based, didactic instruction, recent research has explored the utility of performance-based SSIs, which use various activities to support implicit learning of social skills in supportive, enriched environments. This article reviews the extant literature evaluating the effectiveness or efficacy of five performance-based SSIs using theater-based approaches on social cognition and social communication. Overall, this body of literature suggests social communication gains that include increased peer interactions, peer liking, and reciprocal friendships, as well as social cognitive gains in theory of mind and affect recognition. This review also discusses theoretical models that may help explain the emerging strengths of performance- and theater-based SSIs with underlying hypotheses related to the social communication and social cognitive differences in ASD. Limitations of performance-based SSIs in the evidence-base include several approaches in initial stages of research with small sample sizes and limited maintenance of effects. Future research should aim to bridge the research-to-practice gap and use more rigorous designs and more diverse samples, including those with cooccurring intellectual disability.

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32. Meads J, Shepherd D, Landon J, Goedeke S. Brief Report: Investigating Temporal Factors in the Context of Parenting an Autistic Child. J Autism Dev Disord;2022 (Jul 28)

The current study was a secondary analysis of cross-sectional data collected in New Zealand. Parents (n = 291) of an autistic child completed an online survey that included temporal/demographic questions relating to the parent and child, and parent ratings of the child’s core ASD symptoms, their parenting stress, and psychological well-being. Child and parent ages were related to ASD core symptoms, parenting stress, and psychological well-being, the parent-child age gap was not. Diagnostic delay was only positively associated with parent depression and negatively associated with child communication impairment. Findings indicated that temporal variables can be predictive of parent well-being and child autism symptoms. The findings suggest that focusing interventions on communication abilities may have positive impacts parental mental health.

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33. Nagae T, Lee J. Understanding Emotions in Children with Developmental Disabilities during Robot Therapy Using EDA. Sensors (Basel);2022 (Jul 7);22(14)

Recent technological advancements have led to the emergence of supportive robotics to help children with developmental disabilities become independent. In conventional research, in robot therapy, experiments are often conducted by operating the robot out of the subject’s sight. In this paper, robot therapy using a system that can autonomously recognize the emotions of a child with developmental disabilities and provide feedback was developed. The aim was to quantitatively infer emotional changes in children using skin conductance (EDA) during robot therapy. It was demonstrated that the robot could recognize emotions autonomously and provide feedback to the subjects. Additionally, a quantitative evaluation was conducted using EDA. By analyzing the symptoms related to developmental disorders, it may be possible to improve the recognition rate and tailor therapy based on symptoms.

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34. Narzisi A. Haste Makes Waste: There Is No Solid Evidence to Translate the Use of Stem Cells into Clinical Practice for Children with Autism Spectrum Disorder. Brain Sci;2022 (Jul 27);12(8)

Increasingly, private clinics around the world offer stem cell therapy as a therapeutic approach for autism spectrum disorder (ASD) […].

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35. Ouisselsat M, Maidoumi S, Elmaouaki A, Lekouch N, Pineau A, Sedki A. Hair Trace Elements and Mineral Content in Moroccan Children with Autism Spectrum Disorder: a Case-Control Study. Biol Trace Elem Res;2022 (Jul 28)

The prevalence of autism spectrum disorder (ASD) around the world continues to increase while the pathophysiology remains insufficiently elucidated. Genetics, environment, and epigenetic changes are often implicated. Abnormal level in trace elements and minerals is among environmental factors assumed to be involved. The purpose of this article is to assess hair concentrations of toxic and essential elements in children with ASD and children with neurotypical development in the city of Marrakech. Two hundred and twenty-seven children (107 with ASD and 120 controls) aged 3 to 14 years old were recruited. The results of analysis by ICP-MS showed a significant decrease in hair levels of copper, zinc, iron, and selenium (25%, 13%, 17%, 11%) of children with ASD. The most significantly reduced concentrations in children with ASD are that of manganese by 34%. Hair aluminum level was significantly elevated by 29% in ASD compared to controls. Multiple linear regression analysis revealed that copper, selenium, and iron content in hair were significantly inversely associated with ASD, similarly, hair aluminum content was significantly associated with ASD. Adjusted model for demographic parameters increased the predictive ability of the model, father’s age was a significant predictor. In addition, ASD and gender were significant predictors of hair levels of aluminum, selenium, and manganese.These results support the hypothesis of the disparity of trace elements and minerals levels in children with ASD and highlight the potential interest of micronutrient supplementation in the eventual improvement of ASD symptoms. Future research should explore the pathophysiology of these micronutrient deficiencies.

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36. Pillerová M, Drobná D, Szabó J, Renczés E, Borbélyová V, Ostatníková D, Celec P, Tóthová Ľ. Neuromotor Development in the Shank3 Mouse Model of Autism Spectrum Disorder. Brain Sci;2022 (Jun 30);12(7)

Although autism spectrum disorder (ASD) is mainly characterized by developmental delay in social and communication skills, it has been shown that neuromotor deficits are an early component of ASD. The neuromotor development of B6.129-Shank3(tm2Gfng/J) (Shank3B(-/-)) mice as an animal model of autism has not been analyzed yet. The aim of this study was to compare the early neuromotor development of Shank3B(-/-) to wild-type mice. The mice underwent a multitude of neurodevelopmental tests and observations from postnatal day 1 (PND = 1) to weaning. Shank3B(-/-) mice opened their eyes later than their wild-type litter mates (p < 0.01). Shank3B(-/-) mice were also slower in the negative geotaxis test from PND = 13 to PND = 16 (p < 0.001) in both sexes. The results of this study indicate neurodevelopmental deficits in Shank3B(-/-) mice. The test is partially dependent on truncal motor control, and these lines of evidence suggest a phenotype of developmental hypotonia, which corresponds with the phenotypes seen in patients with Phelan-McDermid Syndrome. There was no observable effect of sex in any of the tests. There were no observed differences in upper and lower incisor eruption, ear unfolding, air righting, surface righting and ear twitch reflexes. Further studies should prove whether the delay in neuromotor development is linked to social or communication deficits, and thus, whether it may serve as an early indicator of autistic-like phenotype in mice.

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37. Puglisi A, Caprì T, Pignolo L, Gismondo S, Chilà P, Minutoli R, Marino F, Failla C, Arnao AA, Tartarisco G, Cerasa A, Pioggia G. Social Humanoid Robots for Children with Autism Spectrum Disorders: A Review of Modalities, Indications, and Pitfalls. Children (Basel);2022 (Jun 25);9(7)

Robot-assisted therapy (RAT) is a promising area of translational neuroscience for children with autism spectrum disorders (ASDs). It has been widely demonstrated that this kind of advanced technological tool provides a reliable and efficient intervention for promoting social skills and communication in children with ASD. This type of treatment consists of a human-assisted social robot acting as an intervention mediator to increase competence and skills in children with ASD. Several social robots have been validated in the literature; however, an explicit technical comparison among devices has never been performed. For this reason, in this article, we provide an overview of the main commercial humanoid robots employed for ASD children with an emphasis on indications for use, pitfalls to be avoided, and recent advances. We conclude that, in the near future, a new generation of devices with high levels of mobility, availability, safety, and acceptability should be designed for improving the complex triadic interaction among teachers, children, and robots.

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38. Rashaid AHB, Alqhazo MT, Nusair SD, Adams JB, Bashtawi MA, Al-Fawares O. Profiling plasma levels of thiamine and histamine in Jordanian children with autism spectrum disorder (ASD): potential biomarkers for evaluation of ASD therapies and diet. Nutr Neurosci;2022 (Jul 28):1-8.

BACKGROUND: The current work involved monitoring two biomarkers in the plasma of children with ASD: the cofactor thiamine that is involved in neurotransmitters modulation for acetylcholine, and the compound histamine, which acts as a neuromodulator by regulating the release of other neurotransmitters. This is the first report to highlight the potential utilization of plasma levels of the selected two brain-related biomarkers in children with ASD. METHODS: A total of 43 children with ASD of both genders (age 4-12 years) were involved in this study and compared to age and gender-matched control children (n = 42). The diagnosis of ASD was based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM5), followed by an additional assessment using the Childhood Autism Rating Scale (CARS). All participants were Jordanian children on Mediterranean diet, and had no history of chronic illness or medications. Measurement of thiamine and histamine in plasma was performed using enzyme-linked immunosorbent assay (ELISA). RESULTS: The outcomes revealed that average histamine levels (31.7 ± 18.5 ng/ml) of ASD group were 5.3× higher (p < .001) compared to their control (0.013 ± 0.011 ng/ml; 6.03 ± 4.25 ng/ml), while thiamine (10.78 ± 7.49 ng/ml) levels of ASD group were significantly lower (p < .001) than the control (37.92 ± 26.87 ng/ml; 0.209 ± 0.054 ng/ml). CONCLUSIONS: The study is proposing that monitoring of the plasma levels of thiamine and histamine as biomarkers for future evaluation and development of ASD therapies and nutritious diets.

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39. Reyes-Martín J, Simó-Pinatella D, Font-Roura J. Assessment of Challenging Behavior Exhibited by People with Intellectual and Developmental Disabilities: A Systematic Review. Int J Environ Res Public Health;2022 (Jul 17);19(14)

The assessment of challenging behavior exhibited by people with intellectual and developmental disabilities is essential for the planning of prevention and intervention programs. This review aimed to identify and analyze the standardized instruments that exclusively focus on the assessment of challenging behavior. We identified and organized 141 articles into four categories: original instrument studies, validation studies, relational studies, and intervention studies. The results identified 24 instruments that generally show high-quality psychometric properties and other utilities beyond the observation of the presence of challenging behavior and diagnostic categorization. Age, level of adaptive behavior, disability, presence of autism spectrum disorder, and medication are some of the variables that were found to be possibly related to the occurrence of challenging behavior. Additionally, the results suggest that interventions focused on supporting positive behavior or providing training on behavior to professionals and caregivers significantly reduced the occurrence of these behaviors. Instruments that help us to understand and measure the challenging behavior exhibited by people with intellectual and developmental disabilities are essential for the design of effective evaluation and intervention protocols.

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40. Santoro G, Pizzuto A, Cuman M, Haxhiademi D, Marchese P, Franchi E, Marrone C, Pak V, Assanta N, Cantinotti M. Transcatheter closure of « Surgical » ostium secundum atrial septal defects with GORE® Cardioform ASD Occluder. J Card Surg;2022 (Jul 28)

OBJECTIVE: To evaluate the GORE® Cardioform ASD Occluder (GCA)(WL Gore & Associates) device for closure of ostium secundum atrial septal defects (ASDs) with predicted indication for surgical correction. BACKGROUND: Closure of large ASD in small children by transcatheter approach is still challenging. This study evaluated the results of GCA in this subset of patients in a tertiary referral center. METHODS: Between January 2020 and March 2022, 97 children underwent transcatheter ASD closure at our Institution. Of them, 38 had a large defect (diameter/weight > 1.2 or diameter/body surface area > 20 mm/m(2) ), predicted suitable for surgery and underwent closure with GCA. Procedure results and midterm outcome are reported. RESULTS: Patients’ age and weight were 5.5 ± 1.5 years and 19.7 ± 4.7 kg, respectively. Absolute and relative ASD size was 21.5 ± 3.6 mm, 1.1 ± 0.2 mm/kg, and 27.7 ± 4.6 mm/m(2) , respectively, resulting in QP/QS of 2.0 ± 0.8. Three patients were sent to surgery after balloon sizing. Four of the remaining 35 patients who underwent device deployment, needed rescue or elective surgery due to device embolization (n = 1), device instability (n = 2) or new-onset tricuspid valve regurgitation (n = 1). Procedure feasibility was 88.6%. Major complications were recorded in two patients (5.7%). Minor complications were recorded in five patients (14.3%). Complete closure at discharge was 90.3% (28/31 pts) rising to 100% at the last follow-up evaluation. Wireframe fracture rate at the 6 months examination was 52%, without clinical and instrumental consequences. CONCLUSIONS: Percutaneous treatment with GCA device is effective and safe in a high percentage of ASD children with predicted indications for surgical correction.

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41. Schnapp A, Harel M, Cayam-Rand D, Cassuto H, Polyansky L, Aran A. A Placebo-Controlled Trial of Cannabinoid Treatment for Disruptive Behavior in Children and Adolescents with Autism Spectrum Disorder: Effects on Sleep Parameters as Measured by the CSHQ. Biomedicines;2022 (Jul 13);10(7)

Autism spectrum disorder (ASD) is often associated with debilitating sleep disturbances. While anecdotal evidence suggests the positive effect of cannabinoids, randomized studies are lacking. Here, we report the effects of cannabinoid treatment on the sleep of 150 children and adolescents with ASD, as part of a double-blind, placebo-controlled study that assessed the impact of cannabinoid treatment on behavior (NCT02956226). Participants were randomly assigned to one of the following three treatments: (1) whole-plant cannabis extract, containing cannabidiol (CBD) and Δ9-Tetrahydrocannabinol (THC) in a 20:1 ratio, (2) purified CBD and THC extract in the same ratio, and (3) an oral placebo. After 12 weeks of treatment (Period 1) and a 4-week washout period, participants crossed over to a predetermined, second 12-week treatment (Period 2). Sleep disturbances were assessed using the Children’s Sleep-Habit Questionnaire (CSHQ). We found that the CBD-rich cannabinoid treatment was not superior to the placebo treatment in all aspects of sleep measured by the CSHQ, including bedtime resistance, sleep-onset delay, and sleep duration. Notably, regardless of the treatment (cannabinoids or placebo), improvements in the CSHQ total score were associated with improvements in the autistic core symptoms, as indicated by the Social Responsiveness Scale total scores (Period 1: r = 0.266, p = 0.008; Period 2: r = 0.309, p = 0.004). While this study failed to demonstrate that sleep improvements were higher with cannabinoids than they were with the placebo treatment, further studies are required.

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42. Schweizer C, Knorth EJ, Van Yperen TA, Spreen M. Exploring Change in Children’s and Art Therapists’ Behavior during ‘Images of Self’, an Art Therapy Program for Children Diagnosed with Autism Spectrum Disorders: A Repeated Case Study Design. Children (Basel);2022 (Jul 12);9(7)

(1) Background: ‘Images of Self’ (IOS) is a recently developed and evaluated art therapy program of 15 sessions to reduce difficulties in ‘sense of self’, ’emotion regulation’, ‘flexibility’, and ‘social behavior’ of children diagnosed with Autism Spectrum Disorders (ASD). In this paper, it is explored whether change in the child’s behaviors corresponds to the therapist’s actions during IOS and 15 weeks later. (2) Method: In a repeated case study design, twelve children and seven therapists participated. Art therapists monitored their own and the children’s behavior by applying two observation instruments: the OAT (Observation of a child with autism in Art Therapy) and EAT (Evaluation of Art Therapist’s behavior when working with a child with autism). Child behaviors during art making were-individually and as a group-compared with therapist’s actions at three moments during the program. (3) Results: Ten of twelve children showed a substantial or moderate positive behavior change considering all OAT subscales at the end of the program and 15 weeks after treatment. Improvement of ‘social behavior’ stood out. Halfway treatment art therapists most prominently showed support of ’emotion regulation’, ‘flexibility’, and ‘social behavior’. Clear one-on-one relationships between changes in children’s behavior and actions of therapists could not be identified. (4) Conclusion: The study provides new insights in the AT treatment process by monitoring children’s and therapists’ behavior. The art making itself and the art therapy triangle (child, art making, therapist) offer opportunities to improve verbal and nonverbal communication skills of the child.

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43. Silkey M, Durán-Pacheco G, Johnson M, Liu C, Clinch S, Law K, Loss G. Correction: The Autism Impact Measure (AIM): Meaningful Change Thresholds and Core Symptom Changes Over One Year from an Online Survey in the U.S. J Autism Dev Disord;2022 (Jul 28)

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44. Singh J, Ameenpur S, Ahmed R, Basheer S, Chishti S, Lawrence R, Fiori F, Santosh P. An Observational Study of Heart Rate Variability Using Wearable Sensors Provides a Target for Therapeutic Monitoring of Autonomic Dysregulation in Patients with Rett Syndrome. Biomedicines;2022 (Jul 13);10(7)

Rett Syndrome (RTT) is a complex neurodevelopmental disorder that has multi-system involvement with co-occurring epilepsy, breathing problems and autonomic dysregulation. Autonomic dysregulation can increase the risk of cardiorespiratory vulnerability in this patient group. Assessment of heart rate variability (HRV) provides an overview of autonomic health in RTT and offers insight into how the sympathetic and parasympathetic components of the nervous system function. However, to our knowledge, no study has evaluated HRV in Rett patients to assess how the dynamics of autonomic function vary with age and changes during the day and/or night. Using non-invasive wearable sensors, we measured HRV in 45 patients with RTT and examined the time and frequency domain sympathetic and parasympathetic indices. Among the HRV indices assessed, heart rate decreases with age and is lower in the night across all ages studied. The sympathetic index (SDNN) and the parasympathetic indices (RMSSD and pNN50) are not seen to change with age. Nevertheless, these indices were all higher during the day when compared to the night. Our findings appear to show that Rett patients are less adaptable to autonomic changes during the night. In the clinical setting, this might be more relevant for patients with severe psychopathology.

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45. Smith E, Stogios N, Au E, Maksyutynska K, De R, Ji A, Sørensen ME, John LS, Lin HY, Desarkar P, Lunsky Y, Remington G, Hahn M, Agarwal SM. The Metabolic Adverse Effects of Antipsychotic Use in Individuals with Intellectual and/or Developmental Disability (IDD): A Systematic Review and Meta-Analysis. Acta Psychiatr Scand;2022 (Jul 27)

OBJECTIVE: Individuals with intellectual and/or developmental disability (IDD) are often prescribed antipsychotics (APs). However, despite their known propensity to cause metabolic adverse effects, including weight gain, diabetes, and increased risk of cardiovascular events, there is currently a limited body of literature describing the metabolic consequences of AP use in this population. METHODS: We searched MEDLINE, EMBASE, PsychINFO, CENTRAL and CINAHL databases to identify all randomized trials that reported on the metabolic effects of APs in individuals with IDD. Random effects meta-analyses were used to examine weight gain as both a continuous and dichotomous outcome. RESULTS: Eighteen randomized trials met our inclusion criteria with a total of 1376 patients across a variety of IDDs. AP use was associated with significantly greater weight gain compared to placebo (Continuous: mean difference = 1.10 kg, [0.79, 1.40], p<0.00001, I(2) =54%; Dichotomous: odds ratio = 3.94, [2.15, 7.23], p<0.00001, I(2) =0). Sub-group analysis revealed no significant effect of AP type. Data regarding the effects of APs on other metabolic outcomes were limited. CONCLUSION: This review (PROSPERO # CRD42021255558) demonstrates that AP use is associated with significant weight gain among patients with IDD. Concerningly, most reported studies were in children and adolescents, which sets up an already vulnerable population for adverse medical sequalae at an early age. There was also a lack of long-term studies in adults with IDD. Further studies are required to better understand how AP use affects metabolic parameters in this group of individuals.

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46. Stapleton GE. Pushing the boundaries: Are we approaching the limits for transcatheter ASD closure?. J Card Surg;2022 (Jul 28)

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47. Stokreef S, Lemos M, Quintas S. Importance of an echocardiogram in the evaluation of ataxia. BMJ Case Rep;2022 (Jul 27);15(7)

We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms. Even though he had no cardiac symptoms and a normal electrocardiography, the echocardiogram revealed severe asymmetric left ventricle hypertrophy consistent with hypertrophic cardiomyopathy. This prompted genetic testing and the diagnosis of Friedreich’s ataxia was confirmed.

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48. Venerosi A, Chiarotti F. Editorial for Brian Sciences Special Issue « Epidemiology of ASD Services: Unmet Need, Barriers and Innovative Solutions ». Brain Sci;2022 (Jul 8);12(7)

We are very honoured by the collaboration we had with the editorial staff of Brain Sciences for the realization of the special issue « Epidemiology of ASD Services: Unmet Need, Barriers and Innovative Solutions » […].

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49. Waldman J, McPaul A, Jahoda A. A comparison of the content and nature of worries of autistic and neurotypical young people as they transition from school. Autism;2022 (Jul 27):13623613221111313.

Autistic young people experience higher levels of anxiety than neurotypical young people. Having worries is part of feeling anxious. This makes it surprising that very little research has looked at the kind of worries autistic young people have. Leaving school, in particular, can be a worrying time for young people. Twenty-two autistic young people and 22 neurotypical young people who were at mainstream secondary schools agreed to take part in the study. They were between 16 and 18 years of age. They were asked to sort through a series of pictures, showing the different types of worries that young people might experience. They were then asked to pick out their four main worries and say how much they thought about each worry and how upset the worry made them. They also completed a questionnaire about their level of anxiety. There were similarities and differences between the autistic and neurotypical young people’s worries. Both groups worried about failing and how they might get on in further education. The autistic young people were more worried about change and friendships. Work and money were particular concerns for the neurotypical young people. The autistic young people said that they found their worries more upsetting than the neurotypical young people. Having a better understanding of autistic young people’s worries at important points in their lives might mean that more timely help and support can be given to them. Simply knowing what to ask young autistic school leavers about may help them to express unspoken concerns.

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50. Westby C. Playing to Pretend or « Pretending » to Play: Play in Children with Autism Spectrum Disorder. Semin Speech Lang;2022 (Aug);43(4):331-346.

Children diagnosed with autism spectrum disorder (ASD) exhibit early delays and deficits in play. In infancy, they engage in unusual exploratory behaviors with toys. As toddlers, they are slow to develop functional play, and in preschool some children with ASD fail to develop symbolic play despite having the necessary cognitive and language skills. Furthermore, when children with ASD are engaged in play, they demonstrate less playfulness. This article reviews the literature on the characteristics of exploratory, functional, and symbolic/pretend play in children with ASD and possible reasons for their unusual patterns of play development. Increased quantity and quality of play are frequent therapeutic goals for children with ASD. If play interventions are to be successful, it is critical that speech-language pathologists have an adequate assessment of children’s play skills. Several frameworks and tools appropriate for assessing play in typical children and children with ASD are described.

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51. Wong A, Zhou A, Cao X, Mahaganapathy V, Azaro M, Gwin C, Wilson S, Buyske S, Bartlett CW, Flax JF, Brzustowicz LM, Xing J. MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders. Genes (Basel);2022 (Jul 26);13(8)

Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated disorders. Using whole-genome sequencing, we analyzed 272 samples in 73 families in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Families with at least one ASD patient were recruited and were further assessed for language impairment, reading impairment, and other associated phenotypes. A total of 5104 miRNA variants and 1,181,148 3′ untranslated region (3′ UTR) variants were identified in the dataset. After applying several filtering criteria, including population allele frequency, brain expression, miRNA functional regions, and inheritance patterns, we identified high-confidence variants in five brain-expressed miRNAs (targeting 326 genes) and 3′ UTR miRNA target regions of 152 genes. Some genes, such as SCP2 and UCGC, were identified in multiple families. Using Gene Ontology overrepresentation analysis and protein-protein interaction network analysis, we identified clusters of genes and pathways that are important for neurodevelopment. The miRNAs and miRNA target genes identified in this study are potentially involved in neurodevelopmental disorders and should be considered for further functional studies.

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52. Yang S, Jin D, Liu J, He Y. Identification of Young High-Functioning Autism Individuals Based on Functional Connectome Using Graph Isomorphism Network: A Pilot Study. Brain Sci;2022 (Jul 5);12(7)

Accumulated studies have determined the changes in functional connectivity in autism spectrum disorder (ASD) and spurred the application of machine learning for classifying ASD. Graph Neural Network provides a new method for network analysis in brain disorders to identify the underlying network features associated with functional deficits. Here, we proposed an improved model of Graph Isomorphism Network (GIN) that implements the Weisfeiler-Lehman (WL) graph isomorphism test to learn the graph features while taking into account the importance of each node in the classification to improve the interpretability of the algorithm. We applied the proposed method on multisite datasets of resting-state functional connectome from Autism Brain Imaging Data Exchange (ABIDE) after stringent quality control. The proposed method outperformed other commonly used classification methods on five different evaluation metrics. We also identified salient ROIs in visual and frontoparietal control networks, which could provide potential neuroimaging biomarkers for ASD identification.

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53. Zhang W, Thompson KL. Access to Care for US Children with Co-Occurrence of Autism Spectrum Disorder and Epilepsy. Children (Basel);2022 (Jul 21);9(7)

Epilepsy is a common comorbidity among children with autism spectrum disorder (ASD). There is a lack of understanding of the inequality in access to care for children with co-occurring ASD and epilepsy (ASD-EP). The purpose of this study is to examine key indicators for access to care and care coordination for children with ASD-EP in the US National Survey of Children’s Health (NSCH). Data were collected from the 2017-2019 NSCH. Our analytic sample included children with ASD without epilepsy (N = 2150), children with both ASD and epilepsy (N = 143), and children with epilepsy without ASD (N = 711). The dependent variables included important access to care indicators such as having usual sources of care, having adequate coverage, being frustrated in efforts to get service, and receiving care coordination. The independent variables included ASD-EP status, child demographics, and an intellectual disability (ID) diagnosis. Our results show that demographic characteristics such as sex, race, income level, and insurance type affect access to care. Inadequate access to healthcare was significantly higher among female children, children from low-income families, and children with ID. The access barriers among children with ASD-EP were more likely due to the interplay of multiple clinical and individual factors.

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54. Zulkifli MN, Kadar M, Hamzaid NH. Weight Status and Associated Risk Factors of Mealtime Behaviours among Children with Autism Spectrum Disorder. Children (Basel);2022 (Jun 21);9(7)

Atypical mealtime behaviours in children with autism spectrum disorder (ASD) have been linked with oral sensory hypersensitivity that may contribute to food selectivity and weight issues. This cross-sectional study aims to determine the association between atypical mealtime behaviours and associated risk factors besides exploring the prevalence of overweight and obesity among Malaysian children with ASD in community settings. A total of 150 children with ASD aged 3-11 years participated in this study. A self-administered questionnaire on sociodemographic variables, mealtime behaviours and oral sensory processing was completed by the caregivers. The prevalence of overweight in the study samples was 18.5%, whereas obesity was 20.0%. In a multivariate analysis model, oral sensory processing (B = 0.608, 95% CI = 0.493, 0.722, p < 0.001), severity of autism symptoms (moderate and severe) (B = 2.585, 95% CI = 0.722, 4.448, p = 0.007) and younger children with ASD (B = -0.694, 95% CI = -1.189, -0.199, p = 0.006) were found as independent predictors of atypical mealtime behaviours. Children with ASD aged 3-11 years old have a higher prevalence of being overweight and obese, thus requiring regular anthropometric screening in community settings by relevant healthcare professionals. Furthermore, a relationship was found between oral sensory difficulties and atypical mealtime behaviours in children with ASD. A multidisciplinary approach is crucial in the overall management of food selectivity in this population.

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