1. Aljubour A, AbdElBaki M, El Meligy O, Al Jabri B, Sabbagh H. Effect of Culturally Adapted Dental Visual Aids on Oral Hygiene Status during Dental Visits in Children with Autism Spectrum Disorder: A Randomized Clinical Trial. Children (Basel);2022 (May 5);9(5)

Autism spectrum disorder (ASD) prevalence has escalated in the last few decades; it is common to have children with ASD seek dental treatment. Their unique behavior patterns prevent them from attending a regular dental setting and receiving proper oral hygiene instructions (OHI); therefore, culturally adapted dental visual aids are necessary to teach them proper OHI. The aim of this study was to assess the effectiveness of culturally adapted dental visual aids in improving oral hygiene (OH) status in children with ASD. A blinded, randomized, controlled clinical trial with sixty-four children with ASD were randomly divided into two groups according to the type of dental visual aids given to them. The experimental group received culturally adapted dental visual aids developed specifically for the study, and the control group received regular dental visual aids. OH status was assessed before and after using the dental visual aids, and data were processed using SPSS version 25.0. OH status improved significantly in both groups after using the dental visual aids (p < 0.001, p < 0.001), respectively. The experimental group showed significant improvement in comparison to the control group in OH status (p = 0.030). Both dental visual aids showed effectiveness in improving OH status in children with ASD.

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2. Alsayouf HA, Talo H, Biddappa ML. Core Signs and Symptoms in Children with Autism Spectrum Disorder Improved after Starting Risperidone and Aripiprazole in Combination with Standard Supportive Therapies: A Large, Single-Center, Retrospective Case Series. Brain Sci;2022 (May 9);12(5)

Background: There are a number of medications prescribed to address comorbid challenging behaviors in children with autism spectrum disorder (ASD), including risperidone and aripiprazole. This retrospective case series reports the use of these drugs in children aged 2 to 13 years. Methodology: A total of 82 children (mean age, 5 years; 79% male) with ASD treated at the Kids Neuro Clinic and Rehab Center in Dubai between January 2020 and September 2021 were included in this retrospective case series. All patients had comorbid challenging behaviors that were resistant to standard supportive therapies alone and warranted pharmacological intervention. The Childhood Autism Rating Scale-2nd Edition Standard form (CARS2-ST) and the Clinical Global Impression (CGI)-Severity (CGI-S) and CGI-Improvement (CGI-I) scales were used to assess the severity of ASD at baseline and to monitor response to treatment with risperidone or aripiprazole. Results: Besides the expected improvement in comorbid challenging behaviors, 79/82 patients (96%) attained a CGI-I score of 2 or 1 following treatment, and 35/82 patients (43%) achieved both a CGI-I score of 1 and minimal-to-no symptoms as per the CARS2-ST test, with complete resolution of their ASD signs and symptoms. The differences in the overall mean CARS2-ST and CGI-S scores pre- and post-treatment were statistically significant (Z = -7.86, p < 0.0001 for both), with pre- and post-treatment mean values of 42 and 23 for CARS2-ST, respectively, and 6 and 2 for CGI-S, respectively. The main side effects were asymptomatic elevated prolactin (n = 12) and excessive weight gain (n = 2). Conclusions: ASD core symptoms and comorbid behaviors in young children improved following chronic treatment with antipsychotic medications, either with or without medications for attention deficit hyperactivity disorder, when combined with standard supportive therapies. Double-blind, placebo-controlled clinical trials are needed to verify these findings.

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3. Arranz MJ, Salazar J, Bote V, Artigas-Baleri A, Serra LA, Triviño E, Roige J, Lombardia C, Cancino M, Hernandez M, Cendros M, Duran-Tauleria E, Maraver N, Hervas A. Pharmacogenetic Interventions Improve the Clinical Outcome of Treatment-Resistant Autistic Spectrum Disorder Sufferers. Pharmaceutics;2022 (May 6);14(5)

BACKGROUND: Autistic spectrum disorders (ASD) are severe neurodevelopmental alterations characterised by deficits in social communication and repetitive and restricted behaviours. About a third of patients receive pharmacological treatment for comorbid symptoms. However, 30-50% do not respond adequately and/or present severe and long-lasting side effects. METHODS: Genetic variants in CYP1A2, CYP2C19, CYP2D6 and SLC6A4 were investigated in N = 42 ASD sufferers resistant to pharmacological treatment. Clinical recommendations based on their pharmacogenetic profiles were provided within 24-48 h of receiving a biological sample. RESULTS: A total of 39 participants (93%) improved after the pharmacogenetic intervention according to their CGI scores (difference in basal-final scores: 2.26, SD 1.55) and 37 participants (88%) according to their CGAS scores (average improvement of 20.29, SD 11.85). Twenty-three of them (55%) achieved symptom stability (CGI ≤ 3 and CGAS improvement ≥ 20 points), requiring less frequent visits to their clinicians and hospital stays. Furthermore, the clinical improvement was higher than that observed in a control group (N = 62) with no pharmacogenetic interventions, in which 66% responded to treatment (difference in CGI scores: -0.87, SD 9.4, p = 1 × 10(-5); difference in CGAS scores: 6.59, SD 7.76, p = 5 × 10(-8)). CONCLUSIONS: The implementation of pharmacogenetic interventions has the potential to significantly improve the clinical outcomes in severe comorbid ASD populations with drug treatment resistance and poor prognosis.

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4. Ayoub MJ, Keegan L, Tager-Flusberg H, Gill SV. Neuroimaging Techniques as Descriptive and Diagnostic Tools for Infants at Risk for Autism Spectrum Disorder: A Systematic Review. Brain Sci;2022 (May 5);12(5)

Autism Spectrum Disorder (ASD) has traditionally been evaluated and diagnosed via behavioral assessments. However, increasing research suggests that neuroimaging as early as infancy can reliably identify structural and functional differences between autistic and non-autistic brains. The current review provides a systematic overview of imaging approaches used to identify differences between infants at familial risk and without risk and predictive biomarkers. Two primary themes emerged after reviewing the literature: (1) neuroimaging methods can be used to describe structural and functional differences between infants at risk and infants not at risk for ASD (descriptive), and (2) neuroimaging approaches can be used to predict ASD diagnosis among high-risk infants and developmental outcomes beyond infancy (predicting later diagnosis). Combined, the articles highlighted that several neuroimaging studies have identified a variety of neuroanatomical and neurological differences between infants at high and low risk for ASD, and among those who later receive an ASD diagnosis. Incorporating neuroimaging into ASD evaluations alongside traditional behavioral assessments can provide individuals with earlier diagnosis and earlier access to supportive resources.

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5. Barros A, Mascarenhas P, Botelho J, Machado V, Balixa G, Bandeira Lopes L. Autism Spectrum Disorders and Malocclusions: Systematic Review and Meta-Analyses. J Clin Med;2022 (May 11);11(10)

Studies heretofore have shown inconsistent results on the link of ASD to malocclusion. Herein, we aimed to compare the prevalence of malocclusion among children and adolescents with ASD compared with non-ASD healthy counterparts through a systematic review. The electronic search focused on five databases, PubMed, Web of Science, EMBASE, LILACS, and OpenGrey until January 2022, and followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (PROSPERO No. CRD42022298023). Observational and intervention studies that compared occlusion characteristics of ASD individuals under 18 years old with healthy controls were included. Pairwise random effects meta-analyses of odds ratio (OR) were performed. Methodological quality was assessed by using the Joanna Briggs Institute Critical Appraisal Checklist for cross-sectional studies. A total of thirteen studies were included for qualitative analysis, and seven for quantitative analysis. The results presented a great heterogeneity and moderate risk of bias; thus, it was not possible to state that there is a risk of malocclusion in individuals with ASD. Future studies should be carried out with strict criteria in the choice of samples, control group, and diagnosis of malocclusion in order to meet the necessary requirements for greater methodological quality.

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6. Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis. Metabolites;2022 (Apr 20);12(5)

Neurodevelopmental disorders are associated with metabolic pathway imbalances; however, most metabolic measurements are made peripherally, leaving central metabolic disturbances under-investigated. Cerebrospinal fluid obtained intraoperatively from children with autism spectrum disorder (ASD, n = 34), developmental delays (DD, n = 20), and those without known DD/ASD (n = 34) was analyzed using large-scale targeted mass spectrometry. Eighteen also had epilepsy (EPI). Metabolites significantly related to ASD, DD and EPI were identified by linear models and entered into metabolite-metabolite network pathway analysis. Common disrupted pathways were analyzed for each group of interest. Central metabolites most involved in metabolic pathways were L-cysteine, adenine, and dodecanoic acid for ASD; nicotinamide adenine dinucleotide phosphate, L-aspartic acid, and glycine for EPI; and adenosine triphosphate, L-glutamine, ornithine, L-arginine, L-lysine, citrulline, and L-homoserine for DD. Amino acid and energy metabolism pathways were most disrupted in all disorders, but the source of the disruption was different for each disorder. Disruption in vitamin and one-carbon metabolism was associated with DD and EPI, lipid pathway disruption was associated with EPI and redox metabolism disruption was related to ASD. Two microbiome metabolites were also detected in the CSF: shikimic and cis-cis-muconic acid. Overall, this study provides increased insight into unique metabolic disruptions in distinct but overlapping neurodevelopmental disorders.

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7. Capal JK. Describing autism spectrum disorder in tuberous sclerosis complex: Challenges and future opportunities. Dev Med Child Neurol;2022 (May 28)

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8. Chan MMY, Chan MC, Lai OL, Krishnamurthy K, Han YMY. Abnormal Prefrontal Functional Connectivity Is Associated with Inflexible Information Processing in Patients with Autism Spectrum Disorder (ASD): An fNIRS Study. Biomedicines;2022 (May 13);10(5)

Individuals with autism spectrum disorder (ASD) are characterized by impairments in flexibly acquiring and maintaining new information, as well as in applying learned information for problem solving. However, the neural mechanism underpinning such impairments remains unclear. This study investigated the flexibility in the acquisition and application of visual information in ASD (aged 14-21) when they performed the Wisconsin Card Sorting Test (WCST). Behavioral data including response accuracy and latency, and prefrontal hemodynamic data measured by functional near-infrared spectroscopy (fNIRS), were collected when individuals performed WCST. Canonical general linear model and functional connectivity analyses were performed to examine the prefrontal activation and synchronization patterns, respectively. Results showed that although ASD individuals (n = 29) achieved comparable accuracy rates when compared with age- and intelligence quotient (IQ)-matched typically developing (TD; n = 26) individuals (F(1,53) = 3.15, p = 0.082), ASD individuals needed significantly more time to acquire and apply WCST card sorting rules (F(1,53) = 17.92, p < 0.001). Moreover, ASD individuals showed significantly lower prefrontal functional connectivity than TD individuals during WCST (F(1,42) = 9.99, p = 0.003). The hypoconnectivity in ASD individuals was highly significant in the right lateral PFC in the acquisition condition (p = 0.005) and in the bilateral lateral PFC in the application condition (ps = 0.006). Furthermore, slower WCST reaction time was correlated with lower bilateral lateral PFC functional connectivity only in the application condition (ps = 0.003) but not the acquisition condition. Impairment in information acquisition and application is evident in ASD individuals and is mediated by processing speed, which is associated with lower functional connectivity in the bilateral lateral PFC when these individuals apply learned rules to solve novel problems.

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9. Cheng H, Charles I, James AF, Abdala AP, Hancox JC. Delayed Ventricular Repolarization and Sodium Channel Current Modification in a Mouse Model of Rett Syndrome. Int J Mol Sci;2022 (May 20);23(10)

Rett syndrome (RTT) is a severe developmental disorder that is strongly linked to mutations in the MECP2 gene. RTT has been associated with sudden unexplained death and ECG QT interval prolongation. There are mixed reports regarding QT prolongation in mouse models of RTT, with some evidence that loss of Mecp2 function enhances cardiac late Na current, I(Na,Late). The present study was undertaken in order to investigate both ECG and ventricular AP characteristics in the Mecp2(Null/Y) male murine RTT model and to interrogate both fast I(Na) and I(Na,Late) in myocytes from the model. ECG recordings from 8-10-week-old Mecp2(Null/Y) male mice revealed prolongation of the QT and rate corrected QT (QTc) intervals and QRS widening compared to wild-type (WT) controls. Action potentials (APs) from Mecp2(Null/Y) myocytes exhibited longer APD(75) and APD(90) values, increased triangulation and instability. I(Na,Late) was also significantly larger in Mecp2(Null/Y) than WT myocytes and was insensitive to the Nav1.8 inhibitor A-803467. Selective recordings of fast I(Na) revealed a decrease in peak current amplitude without significant voltage shifts in activation or inactivation V(0.5). Fast I(Na) ‘window current’ was reduced in RTT myocytes; small but significant alterations of inactivation and reactivation time-courses were detected. Effects of two I(Na,Late) inhibitors, ranolazine and GS-6615 (eleclazine), were investigated. Treatment with 30 µM ranolazine produced similar levels of inhibition of I(Na,Late) in WT and Mecp2(Null/Y) myocytes, but produced ventricular AP prolongation not abbreviation. In contrast, 10 µM GS-6615 both inhibited I(Na,Late) and shortened ventricular AP duration. The observed changes in I(Na) and I(Na,Late) can account for the corresponding ECG changes in this RTT model. GS-6615 merits further investigation as a potential treatment for QT prolongation in RTT.

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10. Cirio S, Salerno C, Mbanefo S, Oberti L, Paniura L, Campus G, Cagetti MG. Use of Visual Pedagogy to Help Children with ASDs Facing the First Dental Examination: A Randomized Controlled Trial. Children (Basel);2022 (May 16);9(5)

Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders that don’t have a direct effect on oral health, but severe difficulties in oral hygiene and dental procedures expose people with ASDs to an increased risk of oral diseases. This RCT aimed to evaluate which pedagogical tool was the best to prepare children with ASDs for their first dental examination, either video or photo aids. Two different criteria were used to evaluate their efficacy: the achieved steps into which the procedure was divided (n = 8), and the level of cooperation according to the Frankl Behavioral Scale. One hundred-thirteen subjects were randomly assigned to the two groups and 84 subjects completed the trial (Video group n = 41; Photo group n = 43). A predictive model for the achievement of the Preliminary (1-4) or Dental (4-8) steps was performed using a multivariate logistic regression procedure. Children in the Video group achieved more steps, but the comparison between groups was statistically significant only for the Preliminary steps (p = 0.04). The percentage of subjects judged as cooperating was similar in the two groups. The results of this study underline that behavioural intervention should be used as an effective strategy to prepare subjects with ASDs for a dental examination.

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11. Čorejová A, Fazekaš T, Jánošíková D, Repiský J, Pospíšilová V, Miková M, Rauová D, Ostatníková D, Kyselovič J, Hrabovská A. Improvement of the Clinical and Psychological Profile of Patients with Autism after Methylcobalamin Syrup Administration. Nutrients;2022 (May 12);14(10)

(1) Background: Autism, also known as autism-spectrum disorder, is a pervasive developmental disorder affecting social skills and psychological status in particular. The complex etiopathogenesis of autism limits efficient therapy, which leads to problems with the normal social integration of the individual and causes severe family distress. Injectable methylcobalamin was shown to improve the clinical status of patients via enhanced cell oxidative status and/or methylation capacity. Here we tested the efficiency of a syrup form of methylcobalamin in treating autism. (2) Methods: Methylcobalamin was administered daily at 500 µg dose to autistic children and young adults (n = 25) during a 200-day period. Clinical and psychological status was evaluated by parents and psychologists and plasma levels of reduced and oxidized glutathione, vitamin B12, homocysteine, and cysteine were determined before the treatment, and at day 100 and day 200 of the treatment. (3) Results: Good patient compliance was reported. Methylcobalamin treatment gradually improved the overall clinical and psychological status, with the highest impact in the social domain, followed by the cognitive, behavioral and communication characteristics. Changes in the clinical and psychological status were strongly associated with the changes in the level of reduced glutathione and reduced/oxidized glutathione ratio. (4) Conclusion: A high dose of methylcobalamin administered in syrup form ameliorates the clinical and psychological status of autistic individuals, probably due to the improved oxidative status.

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12. Floríndez LI, Como DH, Floríndez DC, Floríndez FM, Law E, Polido JC, Cermak SA. Toothbrushing and Oral Care Activities of Autistic and Non-Autistic Latino Children. Children (Basel);2022 (May 18);9(5)

BACKGROUND: Oral care activities, e.g., toothbrushing, are habitual occupations often considered routine. However, for autistic children, performing these routine dental practices can be challenging due to the child’s sensory sensitivities, unique executive function, and the complicated way in which autistic children conceptualize structure and habits. Limited research exists exploring the nuances of oral care routines in the autistic population, and more knowledge is needed to support targeted education interventions to improve oral care and address health inequities. The purpose of this study was to examine videos of oral care routines in the home to understand how oral care activities, such as toothbrushing, were performed by autistic and non-autistic Latino/a children. METHODS: Parents/caregivers from eighteen Latino/a families with children between 6 and 12 years old (n = 10 autistic children and n = 8 non-autistic children) video recorded their child’s oral care routines for three days. The research team blindly coded and analyzed these videos using an oral care observation template to understand how these activities were uniquely performed by the children. RESULTS: Eighty-five oral care videos were analyzed for this study. In addition to noting areas of oral care that can be improved, which included length of brushing and using the correct brushing technique, we identified two themes related to the differences between oral care practices in the autistic and non-autistic children: parent involvement and modifications. CONCLUSIONS: Qualitative findings show that parental involvement was documented especially in the case of autistic children, and that two types of modifications, habitual and sensory, were observed that demonstrated parents being aware of the needs of their autistic child and modifying the oral care activity to meet those needs. By synthesizing observations from the oral care videos into suggestions for practitioners working with families, we hope to supplement knowledge about effective oral care practices for autistic and non-autistic Latino/a children, thereby improving overall oral health and reducing oral health inequities in this population.

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13. Gątarek P, Kałużna-Czaplińska J. Effect of Supplementation on Levels of Homovanillic and Vanillylmandelic Acids in Children with Autism Spectrum Disorders. Metabolites;2022 (May 9);12(5)

Autism Spectrum Disorders (ASD) are characterized by numerous comorbidities, including various metabolic and nutritional abnormalities. In many children with ASD, problems with proper nutrition can often lead to inadequate nutrient intake and some disturbances in metabolic profiles, which subsequently correlate with impaired neurobehavioural function. The purpose of this study was to investigate and compare the relationship between supplementation, levels of homovanillic acid (HVA) and vanillylmandelic acid (VMA) and the behaviour of children with ASD using quantitative urinary acid determination and questionnaires provided by parents/caregivers. The study was carried out on 129 children between 3 and 18 years of age. HVA and VMA were extracted and derivatized from urinary samples and simultaneously analyzed by gas chromatography-mass spectrometry (GC-MS). In addition, parents/caregivers of children with ASD were asked to complete questionnaires containing information about their diet and intake/non-intake of supplements. The application of the Mann-Whitney U test showed a statistically significant difference between the level of HVA and vitamin B supplementation (p = 1.64 × 10(-2)) and also omega-6 fatty acids supplementation and the levels of HVA (p = 1.50 × 10(-3)) and VMA (p = 2.50 × 10(-3)). In some children, a reduction in the severity of autistic symptoms (better response to own name or better reaction to change) was also observed. These results suggest that supplementation affects the levels of HVA and VMA and might also affect the children’s behaviour. Further research on these metabolites and the effects of supplementation on their levels, as well as the effects on the behaviour and physical symptoms among children with ASD is needed.

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14. Gibitova EA, Dobrynin PV, Pomerantseva EA, Musatova EV, Kostareva A, Evsyukov I, Rychkov SY, Zhukova OV, Naumova OY, Grigorenko EL. A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing. Genes (Basel);2022 (May 20);13(5)

This study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry and an annotation-based approach involving relevant public databases, we explored exonic single nucleotide variants and copy-number variation potentially involved in the manifestation of ASD. The study results reveal new potential ASD candidate-variants found in the studied Russian cohort and show a high prevalence of common ASD-associated genomic variants, especially those in the genes known to be associated with the manifestation of intellectual disabilities. Our screening of an ASD cohort from a previously understudied population allowed us to flag at least a few novel genes (IGLJ2, FAM21A, OR11H12, HIP1, PRAMEF10, and ZNF717) regarding their potential involvement in ASD.

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15. Grater JE, Muniz EI, Silver EJ, Blum NJ, Shults J, Stein REK. Treatment of Attention-Deficit/Hyperactivity Disorder with Medication in Children with Autism Spectrum Disorder With and Without Intellectual Disability: A DBPNet Study. J Autism Dev Disord;2022 (May 28)

Children with autism spectrum disorder (ASD) and intellectual disability (ID)/global delay (GD) frequently have symptoms of attention-deficit/hyperactivity disorder (ADHD). We describe the practice patterns of developmental behavioral pediatricians (DBPs) in the treatment of children with ASD and coexisting ADHD and compare medication classes for children with and without intellectual disability. In bivariate analyses, we compared demographic characteristics, co-occurring conditions, and medication classes for children with and without intellectual disability. Significantly more patients with ID/GD were prescribed α-agonists than patients without ID/GD, but the difference was no longer significant when controlling for age in logistic regression children with ID/GD had more comorbidities and were more likely to be prescribed more than on psychotropic medication. In conclusion, age rather than ID/GD was associated with medication choice.

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16. Hashim HU, Yunus MM, Norman H. Autism Children and English Vocabulary Learning: A Qualitative Inquiry of the Challenges They Face in Their English Vocabulary Learning Journey. Children (Basel);2022 (Apr 28);9(5)

Language learning is one of the most important aspects of an individual’s life development and growth. Normal learners’ English language acquisition differs depending on their preferences and learning styles. Children with autism, on the other hand, appear to have different learning methods and routines. There has been a lot of previous work on the language learning styles of normal learners, but not much on the language learning path of children with autism. Due to that, this study aims at investigating the challenges children with autism face in their English vocabulary learning. Observations and focus group discussions were conducted with 45 children with autism, 4 autism education teachers, 2 occupational therapists and a parent of children with mild autism children to investigate the challenges autism children face in their vocabulary learning. The findings have gathered that autistic children encounter a few challenges occasionally in their English vocabulary learning journey. The data were gathered and arranged thematically. Further recommendations and suggestions are discussed in this study.

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17. Higashionna T, Iwanaga R, Tokunaga A, Nakai A, Tanaka K, Tanaka G. The Relationship between Motor Coordination Ability, Cognitive Ability, and Academic Achievement in Japanese Children with Autism Spectrum Disorder and Attention Deficit/Hyperactivity Disorder. Brain Sci;2022 (May 21);12(5)

Motor coordination abilities are related to cognitive abilities and academic achievement in children with neurodevelopmental disorders. However, the similarities and differences of these relationships in children with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (AD/HD) have not been explored. The purpose of this study was to investigate the relationship between motor coordination abilities, cognitive abilities, and academic achievement in Japanese children with ASD and AD/HD. Participants included 20 children with ASD, 20 children with AD/HD, and 20 typically developing children, matched for age and gender. Their motor coordination abilities were assessed with the Movement Assessment Battery for Children-2 (MABC-2). Furthermore, cognitive ability and academic achievement were assessed with the Kauffman Assessment Battery for Children-II (K-ABCII). Results demonstrated that the MABC-2 Total score significantly correlated with the K-ABCII Simultaneous processing, Planning, Total cognitive ability, Writing and Arithmetic scores in children with ASD. However, in children with AD/HD, there was no significant correlation between MABC-2 and K-ABCII subscale scores. The results of this study indicated that the relationship between motor coordination ability, cognitive ability, and academic achievement differs between ASD and AD/HD. This difference might indicate the non-similarity of neurological characteristics and encourage consideration for an approach that accommodates the features of neurodevelopmental disorders in children.

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18. Hoffmann A, Thurman AJ, Sterling A, Kover ST, Finestack L, Berry-Kravis E, Edgin JO, Drayton A, Fombonne E, Abbeduto L. Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome. Brain Sci;2022 (Apr 29);12(5)

Expressive language sampling (ELS) is a frequently used tool for language analysis, as it can be used across widely ranging cognitive and language abilities. ELS can also evaluate pragmatic language, including excessive self-repetition, which is challenging to assess with traditional standardized assessments. This study explored how a well-established ELS protocol can assess three types of linguistic self-repetition in three neurodevelopmental disabilities: fragile X syndrome (FXS), autism spectrum disorder (ASD), and Down syndrome (DS). We examined its ability to differentiate between these disorders, the relationships between repetitive language and other participant characteristics, and initial construct validity. We found that the groups with FXS and ASD differed significantly on each of the three repetitive language measure, and that the group with DS differed from either ASD or FXS on two. Cognitive ability was significantly related to phrase repetition in the group with ASD. When the groups were combined, there was evidence of convergent and divergent validity. This study extends previous research on ELS and supports its use as a means to characterize pragmatic language. It also provides information about the relationships between repetitive language and other phenotypic characteristics.

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19. Imbriani G, Grassi T, Bagordo F, De Filippis G, De Giorgi D, Peccarisi L, Dileone F, Fattizzo T, Antonucci G, Margiotta ML, De Giorgi S, Grasso V, De Donno A, Piscitelli P. A Feasible Methodological Approach to Estimate the Burden of Autism Spectrum Disorder: Results from the EPI-ASD Study in the Province of Lecce (Southern Italy). Int J Environ Res Public Health;2022 (May 23);19(10)

Diagnoses of Autism Spectrum Disorder (ASD) have rapidly increased globally. However, the lack of comprehensive epidemiological surveys and surveillance systems, able to provide official data at a national or European level is one of the main issues in the monitoring of this condition. The present study aimed to estimate the prevalence of ASD in children and adolescents aged 3-18 years old living in the province of Lecce (Southern Italy) through official data provided by the Local Health Authority of Lecce (ASL/LE) up to 31 October 2020, and compare it with school-based data concerning the number of students needing support for ASD. Based on data provided by the ASL/LE, in 2020 there were 509 cases of ASD among children and adolescents aged 3-18 years old, corresponding to a prevalence of 0.46%. A total of 408 (80.2%) were boys and 101 (19.8%) were girls. In relation to their age, 155 ASD cases (0.90%) were diagnosed in the 3-5 age group, while 222 (0.55%) in the 6-11 age group and 132 (0.25%) in the 12-18 age group. Prevalence of ASD assessed by school-based dataset was underestimated in the 3-5 age group, while the 6-11 and 12-18 age groups were consistent with the official data provided by the ASL/LE.

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20. Jagadeesan P, Kabbani A, Vyshedskiy A. Parent-Reported Assessment Scores Reflect the ASD Severity Level in 2- to 7-Year-Old Children. Children (Basel);2022 (May 10);9(5)

We investigated the relationship between parent-reported assessments and autism spectrum disorder (ASD) severity level. Parents evaluated 9573 children with ASD on five subscales-combinatorial receptive language, expressive language, sociability, sensory awareness, and health-using the Autism Treatment Evaluation Checklist (ATEC) and Mental Synthesis Evaluation Checklist (MSEC). The scores in every subscale improved with age, and there were clear differences between the three diagnostic categories. The differences between mild and moderate ASD, and moderate and severe ASD reached statistical significance in each subscale and in every age group in children 3 years of age and older. These findings demonstrate a consistent relationship between children’s diagnoses and their assessments and provide evidence in support of the reliability of parent-report evaluations for ASD. Additionally, this is the first investigation of the relationship between ASD severity level and the ATEC/MSEC scores for the age range from 2 to 7 years.

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21. Josol CK, Fisher MH, Athamanah LS. Perspectives of Adults without Disabilities on their Friendships with Individuals with Intellectual and Developmental Disabilities. J Intellect Disabil;2022 (May 27):17446295221104621.

Friendships contribute to positive social outcomes such as the promotion of prosocial behaviors and social well-being and can lead to an overall healthy quality of life. Despite the importance of friendships, little is known about how individuals without disabilities develop and maintain friendships with individuals with intellectual and developmental disabilities. Using a phenomenological research design, the current study explored the lived experiences of 17 adults without disabilities who discussed the development and maintenance of their friendship with an individual with intellectual and developmental disabilities. Semi-structured interviews were conducted and subsequently collaborative, open coding was used to identify codes and themes across participants. Three main themes emerged related to 1) factors that facilitated friendship development; 2) factors that contributed to friendship maintenance; and 3) impacts of the friendship for both individuals with and without intellectual and developmental disabilities. Implications of the results are discussed as well as future directions for research.

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22. Lunsky Y, Lai MC, Balogh R, Chung H, Durbin A, Jachyra P, Tint A, Weiss J, Lin E. Premature mortality in a population-based cohort of autistic adults in Canada. Autism Res;2022 (May 28)

Research from different countries suggests that autistic adults are more likely to die prematurely than non-autistic adults, but these studies do not always investigate male and female individuals separately and do not consider whether this pattern is unique to autistic people or is also an issue for people with other developmental disabilities. We examined premature mortality in autistic males and females (assigned at birth) in a population-based cohort, compared to males and females with and without other developmental disabilities. Using linked administrative health and social services population data from Ontario, Canada, age-matched males and females aged 19-65 years were followed between 2010 and 2016, and causes of death were determined. Over the 6-year observation period, 330 of 42,607 persons (0.77%) in the group without developmental disabilities had died compared to 259 of 10,646 persons (2.43%) in the autism group and 419 of 10,615 persons (3.95%) in the other developmental disabilities group. Autistic males and females were more likely to die than non-autistic males (adjusted risk ratio, RR 3.13, 95%CI 2.58-3.79) and non-autistic females (adjusted RR 3.12, 95%CI 2.35-4.13) without developmental disabilities, but were less likely to die than adults with other developmental disabilities (males: adjusted RR 0.66, 95%CI 0.55-0.79; females: adjusted RR 0.55, 95%CI 0.43-0.71). Most common causes of death varied depending on a person’s sex and diagnosis. Given the greater likelihood of premature mortality in adults with developmental disabilities including autism, greater attention and resources directed toward their health and social care are needed, tailored to their sex and diagnosis-informed needs. LAY SUMMARY: This study looked at how many autistic men and women died over 6 years (2010-2016), along with how they died, and compared this to adults who did not have autism living in Ontario, Canada. It found that autistic men and women were more than three times as likely to die as people of the same age who did not have a developmental disability. However, adults with other developmental disabilities besides autism were even more likely to die than autistic adults. This means that we have to pay more attention and invest in better social and health care for autistic people, along with people who have other types of developmental disabilities.

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23. Maksimović S, Jeličić L, Marisavljević M, Fatić S, Gavrilović A, Subotić M. Can EEG Correlates Predict Treatment Efficacy in Children with Overlapping ASD and SLI Symptoms: A Case Report. Diagnostics (Basel);2022 (Apr 28);12(5)

Evaluation of the rehabilitation efficacy may be an essential indicator of its further implementation and planning. The research aim is to examine whether the estimation of EEG correlates of auditory-verbal processing in a child with overlapping autism spectrum disorder (ASD) and specific language impairment (SLI) symptoms may be a predictor of the treatment efficacy in conditions when behavioral tests do not show improvement during the time course. The prospective case report reports follow-up results in a child aged 36 to 66 months. During continuous integrative therapy, autism risk index, cognitive, speech-language, sensory, and EEG correlates of auditory-verbal information processing are recorded in six test periods, and their mutual interrelation was analyzed. The obtained results show a high statistically significant correlation of all observed functions with EEG correlates related to the difference between the average mean values of theta rhythm in the left (F1, F3, F7) and right (F2, F4, F8) frontal region. The temporal dynamics of the examined processes point to the consistency of the evaluated functions increasing with time flow. These findings indicate that EEG correlates of auditory-verbal processing may be used to diagnose treatment efficacy in children with overlapping ASD and SLI.

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24. Marzouki H, Soussi B, Selmi O, Hajji Y, Marsigliante S, Bouhlel E, Muscella A, Weiss K, Knechtle B. Effects of Aquatic Training in Children with Autism Spectrum Disorder. Biology (Basel);2022 (Apr 25);11(5)

A variety of aquatic training regimens have been found to be beneficial for individuals with autism spectrum disorders (ASD) in multiple domains. This study investigated and compared the efficacy of two aquatic training regimens (technical vs. game-based) on gross motor skills, stereotypy behavior and emotion regulation in children with ASD. Twenty-two autistic children were randomly assigned into three groups: two experimental groups performed either a technical aquatic program or a game-based aquatic program and a control group. Participants were assessed before and after an 8-week training period, with the Test of Gross Motor Development, the stereotypy subscale of the Gilliam Autism Rating Scale, and the Emotion Regulation Checklist. A significant effect for time was found in gross motor skills and stereotypy behavior in both experimental groups. An improvement in gross motor skills was observed in both experimental groups compared to the control group. A small pre-post change effect in emotion functioning was found in all groups. No significant differences were observed between the experimental groups in all assessed variables. Our findings provide additional evidence suggesting the effectiveness of beneficial effects of aquatic activities on the motor and social skills that underpin the hypothesis that motor and intellectual domains are highly interrelated in autistic children.

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25. Mendive Dubourdieu P, Guerendiain M. Dietary Intake, Nutritional Status and Sensory Profile in Children with Autism Spectrum Disorder and Typical Development. Nutrients;2022 (May 22);14(10)

Children with autism spectrum disorder (ASD) may consume a restricted diet, whether due to sensory sensitivities or an adherence to a gluten and casein free (GCF) diet. Our objective was to analyze dietary intake, nutritional status, and sensory profile in children with and without ASD. A descriptive, cross-sectional study was carried out in 65 children (3-12 years, ASD = 35, typical development (TD) = 30). Short Sensory Profile and food frequency questionnaires were applied. All participants were categorized into normal weight and excess weight, typical sensory performance (TP), and probable + definite difference (PD + DD); and ASD group into GCF dieters (ASD-diet) and non-dieters (ASD-no diet). Children with ASD had a higher intake (gr or ml/d) of vegetable drinks (p = 0.001), gluten-free cereals (p = 0.003), and a lower intake of fish (p < 0.001) than TD ones. The ASD group showed a lower score in total sensory profile score (p < 0.001) than TD group. In the ASD group, those who had PD + DD in their sensory profile consumed fewer dairies (p = 0.019), and more cereals (p = 0.036) and protein foods (p = 0.034) than those with TP. These findings confirm the need to consider the neurodevelopment, sensory profile, and type of diet to improve the ASD child’s nutrition. Further long-term research is needed to explore their impact on health.

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26. Nisticò V, Fior G, Faggioli R, Priori A, Gambini O, Demartini B. The Psychological Impact of COVID-19 among a Sample of Italian Adults with High-Functioning Autism Spectrum Disorder: A Follow-Up Study. Healthcare (Basel);2022 (Apr 22);10(5)

The strict lockdowns imposed to contain the COVID-19 pandemic brought an increase in levels of stress, anxiety, and depression in the general population. However, in a previous study, our group found that individuals with High-Functioning Autism Spectrum Disorders (HF-ASD) reported an increase in their psychological wellbeing and a decrease in their daily tiredness, in relation to the social distancing measures imposed during the first Italian lockdown (between March and May 2020). In this follow-up study, conducted during the « second wave » of COVID-19, we included the same group of individuals with HF-ASD and evaluated their levels of stress, anxiety, depression, PTSD-related symptoms, tiredness, and perceived wellbeing; moreover, we compared our results to the ones we obtained during the first lockdown on the same population. We found that individuals with HF-ASD experienced higher levels of the aforementioned psychiatric symptoms during the second lockdown, with respect to the first one. These levels positively correlated with their scores at the Autism Quotient subscale Attention Switching: hence, we speculated that these symptoms might be due not only to the prolonging of the social distancing measures, but also to the uncertainty that HF-ASD participants started experiencing at the end of the first lockdown.

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27. Pallanti S, Di Ponzio M, Grassi E, Vannini G, Cauli G. Transcranial Photobiomodulation for the Treatment of Children with Autism Spectrum Disorder (ASD): A Retrospective Study. Children (Basel);2022 (May 20);9(5)

Children with Autism Spectrum Disorder (ASD) face several challenges due to deficits in social function and communication along with restricted patterns of behaviors. Often, they also have difficult-to-manage and disruptive behaviors. At the moment, there are no pharmacological treatments for ASD core features. Recently, there has been a growing interest in non-pharmacological interventions for ASD, such as neuromodulation. In this retrospective study, data are reported and analyzed from 21 patients (13 males, 8 females) with ASD, with an average age of 9.1 (range 5-15), who received six months of transcranial photobiomodulation (tPBM) at home using two protocols (alpha and gamma), which, respectively, modulates the alpha and gamma bands. They were evaluated at baseline, after three and six months of treatment using the Childhood Autism Rating Scale (CARS), the Home Situation Questionnaire-ASD (HSQ-ASD), the Autism Parenting Stress Index (APSI), the Montefiore Einstein Rigidity Scale-Revised (MERS-R), the Pittsburgh Sleep Quality Index (PSQI) and the SDAG, to evaluate attention. Findings show that tPBM was associated with a reduction in ASD severity, as shown by a decrease in CARS scores during the intervention (p < 0.001). A relevant reduction in noncompliant behavior and in parental stress have been found. Moreover, a reduction in behavioral and cognitive rigidity was reported as well as an improvement in attentional functions and in sleep quality. Limitations were discussed as well as future directions for research.

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28. Pavlopoulou G, Usher C, Pearson A. ‘I can actually do it without any help or someone watching over me all the time and giving me constant instruction’: Autistic adolescent boys’ perspectives on engagement in online video gaming. Br J Dev Psychol;2022 (May 28)

Research into autistic adolescents’ engagement in online gaming has so far focused on time spent gaming, or characterizing problematic gaming behaviour and has relied mostly on caregiver report. In the current study, we interviewed 12 autistic adolescent boys, asking about their perspectives on their engagement in online gaming, and their motivations. We analysed the interview data using thematic analysis and identified three key themes in the data, which focused on agency and a sense of belonging, emotion regulation, and acknowledgement of the differing perceptions that the young people and their caregivers had of gaming. Our findings show the need to include the viewpoints of autistic young people in research about their interests and well-being, and provide insights that can help caregivers and professionals to support autistic young people in flourishing.

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29. Rossignol DA, Frye RE. Correction: Rossignol, D.A.; Frye, R.E. Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J. Pers. Med. 2021, 11, 1141. J Pers Med;2022 (Apr 29);12(5)

In the original publication […].

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30. Saad AK, Akour A, Mahboob A, AbuRuz S, Sadek B. Role of Brain Modulators in Neurodevelopment: Focus on Autism Spectrum Disorder and Associated Comorbidities. Pharmaceuticals (Basel);2022 (May 16);15(5)

Autism spectrum disorder (ASD) and associated neurodevelopmental disorders share similar pathogenesis and clinical features. Pathophysiological changes in these diseases are rooted in early neuronal stem cells in the uterus. Several genetic and environmental factors potentially perturb neurogenesis and synaptogenesis processes causing incomplete or altered maturation of the brain that precedes the symptomology later in life. In this review, the impact of several endogenous neuromodulators and pharmacological agents on the foetus during pregnancy, manifested on numerous aspects of neurodevelopment is discussed. Within this context, some possible insults that may alter these modulators and therefore alter their role in neurodevelopment are high-lighted. Sometimes, a particular insult could influence several neuromodulator systems as is supported by recent research in the field of ASD and associated disorders. Dopaminergic hy-pothesis prevailed on the table for discussion of the pathogenesis of schizophrenia (SCH), atten-tion-deficit hyperactivity disorder (ADHD) and ASD for a long time. However, recent cumulative evidence suggests otherwise. Indeed, the neuromodulators that are dysregulated in ASD and comorbid disorders are as diverse as the causes and symptoms of this disease. Additionally, these neuromodulators have roles in brain development, further complicating their involvement in comorbidity. This review will survey the current understanding of the neuromodulating systems to serve the pharmacological field during pregnancy and to minimize drug-related insults in pa-tients with ASD and associated comorbidity disorders, e.g., SCH or ADHD.

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31. Samadi SA, Biçak CA, Noori H, Abdalla B, Abdullah A, Ahmed L. Autism Spectrum Disorder Diagnostic Criteria Changes and Impacts on the Diagnostic Scales-Utility of the 2nd and 3rd Versions of the Gilliam Autism Rating Scale (GARS). Brain Sci;2022 (Apr 23);12(5)

There is joint agreement among professionals internationally on the importance of diagnosing autism spectrum disorders (ASD) in the early stages of the emergence of symptoms. Criteria changes for the diagnosis of ASD need updated versions of the scale to make the diagnosis feasible. This study aimed to evaluate the level of overlap between two different versions of the Gilliam Autism Rating Scale (GARS-2 and GARS-3), which have been updated based on changes in DSM-IV and DSM-5 on a Kurdish sample of individuals at risk of having ASD and Intellectual Disability, referred to the Bahoz center in the Kurdistan Region of Iraq. A group of 148 cases with ASD and developmental disabilities (DD) was evaluated using the 2nd and 3rd versions of the GARS scale to understand the level of cases that confirm an ASD diagnosis in both scales. Ninety-six individuals (65%) scored about the cut-off score for being diagnosed with ASD based on the GARS-2, and 137 individuals (93%) scored above the cut-off score based on the GARS-3. Moreover, keeping updated and meeting the changing demand of standardization and cultural suitability of the updating scales is a challenge. This challenge is due to the shortage of infrastructure sources and lack of established professionals in low- and middle-income countries (LMICs). Findings indicated that GARS-3, updated based on the DSM-5, tends to diagnose children with accompanying diagnoses and different levels of symptoms severity of ASD at different age levels. Further studies are needed to help professionals and policymakers in low- and middle-income countries understand the updated versions of the available scales and depend on the older version, which must be considered cautiously.

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32. Shiono S, Tsutiya A, Ohtani-Kaneko R. Early Detection of Male-Predominant Phenotypes in the Pattern of Ultrasonic Vocalizations Emitted by Autism Spectrum Disorder Model (Crmp4-Knockout) Mice. Brain Sci;2022 (May 20);12(5)

Male predominance is a known feature of autism spectrum disorder (ASD). Although ASD mouse models can be useful for elucidating mechanisms underlying abnormal behaviors relevant to human ASD, suitable models to analyze sex differences in ASD pathogenesis remain insufficient. Herein, we used collapsin response mediator protein 4 (Crmp4)-knockout (KO) mice exhibiting ASD-like phenotypes in a male-predominant manner and analyzed ultrasonic vocalizations (USVs) to detect potential differences between genotypes and sexes during the early postnatal period. We recorded isolation-induced USVs emitted from wild-type (WT) and Crmp4-KO littermates and compared the total number of USVs between genotypes and sexes. We classified USVs into 10 types based on internal pitch changes, lengths, and shapes and compared the number of USVs in each type by genotypes and sex. Male Crmp4-KO mice exhibited a reduction in the total number of USVs. Crmp4-KO decreased the number of USVs in 7 out of 10 USV types, and male KO mice exhibited a greater reduction than females in 3 of the 7 types. This study offers a suitable ASD animal model and tool for assessing sex-based communication deficits during the early postnatal period, both of which would be valuable for elucidating the underlying mechanism.

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33. Sousa B, Martins J, Castelo-Branco M, Gonçalves J. Transcranial Direct Current Stimulation as an Approach to Mitigate Neurodevelopmental Disorders Affecting Excitation/Inhibition Balance: Focus on Autism Spectrum Disorder, Schizophrenia, and Attention Deficit/Hyperactivity Disorder. J Clin Med;2022 (May 18);11(10)

Transcranial direct current stimulation (tDCS) has been proposed as a promising therapy for rehabilitation of neurodevelopmental disorders. In this review, we discuss studies on the impact of tDCS as a therapy for autism, schizophrenia, and attention deficit/hyperactivity disorder, as well as the tDCS’ mechanism of action, and propose future paths of research to optimize tDCS treatment protocols. The mechanism underlying tDCS effects is the modulation of excitatory and/or inhibitory activity, making it a valuable tool for restoring the excitation/inhibition (E/I) balance which is disrupted in many neurodevelopmental disorders. Clinical studies have shown that tDCS therapy is well-tolerated by patients and seems to ameliorate behavior and cognitive functions. Alterations in early development of neuronal circuits lead to disruptions in brain activity in neurodevelopmental disorders. An increasing amount of research into the effects of tDCS on neuronal activity has provided a foundation for its use as a therapy for behavior and cognitive characteristics of neurodevelopmental disorders. Clinical studies show that tDCS appears to ameliorate behavioral and cognitive outcomes of patients with autism, schizophrenia, and attention deficit/hyperactivity disorder. More research is needed to understand the mechanisms of action of tDCS and to optimize treatment protocols.

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34. Ventura P, de Giambattista C, Trerotoli P, Cavone M, Di Gioia A, Margari L. Methylphenidate Use for Emotional Dysregulation in Children and Adolescents with ADHD and ADHD and ASD: A Naturalistic Study. J Clin Med;2022 (May 22);11(10)

Emotional dysregulation (ED) is common in attention-deficit/hyperactivity disorder (ADHD). Nonetheless, research on ADHD in children with autism spectrum disorder (ASD) and ADHD is still ongoing. Several studies suggest that methylphenidate (MPH) may be effective for ED in ADHD, while there is not enough evidence about its use in ASD with comorbid ADHD. This naturalistic study aims to investigate the effectiveness of immediate- and extended-release MPH in the treatment of ED in 70 children and adolescents (6-18 years), with a diagnosis of ADHD (n = 41) and of ASD with comorbid ADHD (n = 29), using the Child Behavior Checklist-Attention/Aggressive/Anxious (CBCL-AAA). Their parents completed the CBCL twice-first during the summer medication-free period, that is, at least one month after drug interruption; and again after three months of treatment restart. Results demonstrate that MPH is associated with a statistically significant reduction in ED in ADHD and ASD, without substantial adverse events, supporting the use of psychostimulants for the treatment of ED in these neurodevelopmental disorders.

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