1. Rowland J, Wilson CA. The association between gestational diabetes and ASD and ADHD : a systematic review and meta-analysis. Sci Rep. 2021 ; 11(1) : 5136.

There is growing evidence for a role of maternal diabetes in the pathogenesis of neurodevelopmental disorders. However, the specific association between gestational diabetes (GDM), as opposed to pre-gestational diabetes, has been poorly isolated. Thus the aim was to systematically review and meta-analyse literature pertaining to prevalence and risk for two neurodevelopmental disorders : autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), when exposed to GDM. PubMed, Cochrane Library, EMBASE, PsycINFO and CINAHL were systematically searched for eligible literature, with forward and backward citation tracking. Screening for eligibility, risk of bias assessment and data extraction were performed by two independent reviewers. 18 studies measuring ASD and 15 measuring ADHD met inclusion criteria. On meta-analysis there was an increased risk of ASD (OR 1.42 ; 95% CI 1.22, 1.65) but not ADHD (OR 1.01 ; 95% CI 0.79, 1.28). We discuss potential mechanisms for these differing risks. Greater understanding of risk factors, including GDM, for these neurodevelopmental disorders and potential mechanisms may help inform strategies aimed at prevention of exposure to these adversities during pregnancy.

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2. Eggleston JD, Olivas AN, Vanderhoof HR, Chavez EA, Alvarado C, Boyle JB. Children With Autism Exhibit More Individualized Responses to Live Animation Biofeedback Than Do Typically Developing Children. Perceptual and motor skills. 2021 : 31512521998280.

Children with autism have displayed imbalances in responding to feedback and feedforward learning information and they have shown difficulty imitating movements. Previous research has focused on motor learning and coordination problems for these children, but little is known about their motoric responses to visual live animation feedback. Thus, we compared motor output responses to live animation biofeedback training in both 15 children with autism and 15 age- and sex-matched typically developing children (age range : 8-17 years). We collected kinematic data via Inertial Measurement Unit devices while participants performed a series of body weight squats at a pre-test, during live animation biofeedback training, and at post-test. Dependent t-tests (α = 0.05), were used to test for statistical significance between pre- and post-test values within groups, and repeated measures analyses of variance (α = 0.05) were used to test for differences among the training blocks, within each group. The Model Statistic technique (α = 0.05) was used to test for pre- and post-test differences on a single-subject level for every participant. Grouped data revealed little to no significant findings in the children with autism, as these participants showed highly individualized responses. However, typically developing children, when grouped, exhibited significant differences in their left hip position (p = 0.03) and ascent velocity (p = 0.004). Single-subject analyses showed more individualistic live animation responses of children with autism than typically developing children on every variable of interest except descent velocity. Thus, to teach children with autism new movements in optimal fashion, it is particularly important to understand their individualistic motor learning characteristics.

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3. Godfrey D, Stone RT, Lee M, Chitnis T, Santoro JD. Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders. Nutr Neurosci. 2021 : 1-7.

BACKGROUND : Persons with autism spectrum disorder (ASD) can have restrictive diets due to stereotyped behaviors. These restrictive diets can manifest with nutritional deficiencies, such as Vitamin A deficiency. The most frequent manifestation of hypovitaminosis A is vision loss secondary to xerophthalmia. Here the authors report six cases of males with a clinical triad of hypovitaminosis A, cranial hyperostosis, and optic neuropathy. METHODS : A retrospective case series of six males (ages 5-17 years old) with ASD who presented with several weeks of vision loss and nyctalopia were reviewed. RESULTS : All six subjects were found to have a barely detectable Vitamin A level (<10 mcg/dL). Three of the six cases had elevated protein (45.9-74.0 mg/dL) in their CSF. MRI imaging demonstrated mild T2 enhancement of bilateral optic nerve sheaths and CT showed diffuse skull hypertrophy. Upon further history collection, all subjects had a very limited food repertoire with major nutritional deficiencies. Subjects were prescribed high doses of vitamin A and most were noted to have improved vision at follow-up, and all had resolution of imaging abnormalities on repeat scans. No common genetic variant was identified in patients with expanded genetic sequencing. CONCLUSIONS : We present a clinical triad of hypovitaminosis A, cranial hyperostosis, and optic neuropathy in six males with ASD. Skull abnormalities and xeropthalmia likely contributed to the development of vision loss.

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4. Arora I, Bellato A, Ropar D, Hollis C, Groom MJ. Is autonomic function during resting-state atypical in Autism : A systematic review of evidence. Neurosci Biobehav Rev. 2021 ; 125 : 417-41.

BACKGROUND : Theories of differences in resting-state arousal in autistic individuals are influential. Differences in arousal during resting-state would impact engagement and adaptation to the environment, having a cascading effect on development of attentional and social skills. OBJECTIVES : We systematically evaluated the evidence for differences in measures of autonomic arousal (heart rate, pupillometry or electrodermal activity) during resting-state in autistic individuals ; to understand whether certain contextual or methodological factors impact reports of such differences. DATA SOURCES : We searched PsycInfo, MEDLINE and EMBASE databases for papers published until 16th May 2019. Of 1207 titles initially identified, 60 met inclusion criteria. RESULTS AND CONCLUSIONS : Of the 51 studies that investigated group differences between neurotypical and autistic participants, 60.8 % found evidence of group differences. While findings of hyperarousal were more common, particularly using indices of parasympathetic function, findings of hypo-arousal and autonomic dysregulation were also consistently present. Importantly, experimental context played a role in revealing such differences. The evidence is discussed with regard to important methodological factors and implications for future research are described.

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5. Latif N, Di Francesco C, Custo-Blanch M, Hyde K, Sharda M, Nadig A. Joint engagement and movement : Active ingredients of a music-based intervention with school-age children with autism. NeuroRehabilitation. 2021 ; 48(2) : 167-85.

BACKGROUND : The effectiveness of music-based interventions (MI) in autism has been attested for decades. Yet, there has been little empirical investigation of the active ingredients, or processes involved in music-based interventions that differentiate them from other approaches. OBJECTIVES : Here, we examined whether two processes, joint engagement and movement, which have previously been studied in isolation, contribute as important active ingredients for the efficacy of music-based interventions. METHODS : In two separate analyses, we investigated whether (1) joint engagement with the therapist, measured using a coding scheme verified for reliability, and (2) movement elicited by music-making, measured using a computer-vision technique for quantifying motion, may drive the benefits previously observed in response to MI (but not a controlled non-MI) in children with autism. RESULTS : Compared to a non-music control intervention, children and the therapist in MI spent more time in triadic engagement (between child, therapist, and activity) and produced greater movement, with amplitude of motion closely linked to the type of musical instrument. CONCLUSIONS : Taken together, these findings provide initial evidence of the active ingredients of music-based interventions in autism.

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6. Brennand KJ, Talkowski ME. Xenopus models suggest convergence of gene signatures on neurogenesis in autism. Neuron. 2021 ; 109(5) : 743-5.

Willsey et al. dissect phenotypes associated with in vivo disruption of ten ASD-associated genes using a hypothesis-free, parallelized approach in Xenopus tropicalis. These studies continue to implicate cortical neurons in ASD pathogenesis and suggest a convergence on functions related to neurogenesis.

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7. Yuan J, Li M, Lu ZK. Racial/Ethnic Disparities in the Prevalence and Trends of Autism Spectrum Disorder in US Children and Adolescents. JAMA network open. 2021 ; 4(3) : e210771.

This cross-sectional study uses data from the National Health Interview Survey to assess racial/ethnic disparities in the prevalence and trends of autism spectrum disorder among US children and adolescents.

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8. Berard M, Rattaz C, Peries M, Loubersac J, Munir K, Baghdadli A. Impact of containment and mitigation measures on children and youth with ASD during the COVID-19 pandemic : Report from the ELENA cohort. Journal of psychiatric research. 2021 ; 137 : 73-80.

BACKGROUND : Containment, involving separation and restriction of movement of people due to the COVID-19 pandemic, and mitigation, also referred to as lockdown, involving closure of schools, universities and public venues, has had a profound impact on people’s lives globally. The study focuses on the effects of containment and mitigation measures, on the behavior of children and youth (CaY) with Autism Spectrum Disorders (ASD). The study primary aim was to examine the impact of these urgent measures on the behaviors, communication, sleep, and nutritional status of the CaY. A secondary aim was to explore risk and protective factors on behavior change including sociodemographic variables, living conditions, ASD symptom severity and continuity of interventions. METHODS : The study sample consisted of 239 ASD subjects, 2-21 years of age, enrolled in the ELENA cohort in France at Stage 3 confinement and mitigation measures announced on March 16, 2020. A parent informant completed the COVID-19 questionnaire. RESULTS : Of the domains examined, challenging behaviors, communicative skills and sleep had the greatest impact ; in terms of risk and protective factors, subject age, ASD severity, single parenthood, daily living skills, and intervention continuity were most likely to impact behaviors ; living conditions were not linked to behavior change. CONCLUSIONS : The findings highlight the topography of behavioral change in CaY with ASD following institution of containment and mitigation measures during the COVID-19 pandemic and help identify risk and protective factors to help better address needs and tailor interventions in the future.

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9. McNally Keehn R, Tang Q, Swigonski N, Ciccarelli M. Associations Among Referral Concerns, Screening Results, and Diagnostic Outcomes of Young Children Assessed in a Statewide Early Autism Evaluation Network. The Journal of pediatrics. 2021.

OBJECTIVE(S) : To examine associations between referral concerns, screening results, and diagnostic outcomes for young children evaluated across a statewide primary care network for early screening and diagnosis of ASD. STUDY DESIGN : The Early Autism Evaluation (EAE) Hub system was developed to increase developmental screening and improve access to timely ASD evaluations in local communities. In 2019, 858 children (ages 18-48 months ; 40% diagnosed with ASD) received ASD evaluations across 12 EAE Hubs. Data on PCP- and caregiver-reported referral concerns, MCHAT-R/F and ASQ-3, and diagnostic outcome were collected. RESULTS : Among children evaluated, there was low concordance between PCP and caregiver referral concern. Although a positive MCHAT-R/F screen was associated with PCP but not caregiver-reported ASD referral concern, there was a significant linear relationship between MCHAT-R/F raw scores and both PCP and caregiver ASD referral concern. A different pattern of ASQ-3 delays was found to be associated with PCP- as compared with caregiver-reported ASD referral concern. Finally, PCP-reported ASD referral concern, positive MCHAT-R/F, and ASQ-3 Communication and Personal Social delays were associated with a significantly higher likelihood of subsequent ASD diagnosis. CONCLUSION(S) : Understanding how community PCPs use surveillance and screening data, the extent to which PCPs and caregivers have shared understanding and engage in collaborative decision-making about evaluation referral, and how these factors relate to diagnostic outcome has the potential to impact educational efforts for both PCPs and caregivers of young children, as well as inform the development of more efficacious early identification approaches.

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10. Page SD, Souders MC, Kral TVE, Chao AM, Pinto-Martin J. Correlates of Feeding Difficulties Among Children with Autism Spectrum Disorder : A Systematic Review. J Autism Dev Disord. 2021.

Feeding difficulties related to selective intake, or eating a limited variety of foods, are very common in children with autism spectrum disorder (ASD). A systematic search of PubMed, Embase, PsycInfo, and CINAHL identified 29 studies that evaluated eight correlates : age, ASD symptoms and severity, cognitive and adaptive skills, sensory processing and perception, challenging behavior, weight status, gastrointestinal symptoms, and parenting stress. Feeding difficulties related to selective intake are consistently correlated with impaired sensory processing and perception and tend to be positively associated with rigidity and challenging behavior. These feeding difficulties tend to persist with advancing age. Other correlates demonstrated inconsistent findings. A significant limitation of research reviewed is variability in terminology, definitions, and measurement of feeding difficulties.

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11. Farley BE, Griffith A, Mahoney A, Zhang D, Kruse L. Brief Report : Identifying Concerns of Military Caregivers with Children Diagnosed with ASD Following a Military Directed Relocation. J Autism Dev Disord. 2021.

Military families relocate three times more often than non-military families. Those whom have children diagnosed with Autism Spectrum Disorder face challenges related to inconsistencies in services, delay of services, and lack of continuity of care. The current study expands the limited research examining the experiences of military families with children with Autism by focusing on impact of relocation, specifically identifying potential causes of delays in services. An online survey of 25 military caregivers of children with autism suggests potential delays in service related to provider waitlists, obtaining new referrals, and lengthy intake processes. The impact of these inconsistencies is discussed in relation to child progress and the need for future research in this area.

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12. Barger B, Rice C, Benevides T, Salmon A, Sanchez-Alvarez S, Crimmins D. Are Developmental Monitoring and Screening Better Together for Early Autism Identification Across Race and Ethnic Groups ?. J Autism Dev Disord. 2021.

National Surveys of Children’s Health (NSCH, 2016-2018) data were analyzed to determine if conjoint monitoring and screening showed stronger associations with children under 5 identified with ASD compared to monitoring alone, screening alone or no monitoring or screening ; and investigate relationships between monitoring and screening across racial/ethnic subgroups. 86 of 332 children with ASD received their diagnosis in a timeframe suggesting potential monitoring and screening for identification purposes. Analyses showed that conjoint monitoring and screening and monitoring alone, but not screening alone, was associated with early identified ASD cases across race groups. Caution is warranted as interpreting NSCH monitoring and screening items solely for identification purposes is inaccurate in many cases. More research on monitoring with screening is needed.

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13. Dong HY, Wang B, Li HH, Yue XJ, Jia FY. Correlation Between Screen Time and Autistic Symptoms as Well as Development Quotients in Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2021 ; 12 : 619994.

Background : Electronic screen media play an increasingly vital role in children’s entertainment ; however, excessive screen time may negatively influence child development. The purpose of this study was to investigate the relationship between the screen time of children with autism spectrum disorder (ASD) and their autistic symptoms and development quotients (DQs). Methods : We compared the screen time of 101 children with ASD and 57 typically developing (TD) children. Then, we performed a correlation analysis to determine the correlations between the screen time and the ASD-related scale scores and developmental quotients of the Gesell Developmental Schedules (GDS) of ASD children. We further divided the ASD group into subgroups according to the screen time and age and then separately conducted the above correlation analyses by subgroup. Result : The results showed that the screen time of the children with ASD was longer than that of the TD children (3.34 ± 2.64 h vs. 0.91 ± 0.93 h). The screen time of the children with ASD was positively correlated with the Childhood Autism Rating Scale (CARS) score (r = 0.242, P = 0.021) and « taste, smell and touch » item of CARS(r = 0.304, P = 0.005), and negatively correlated with the language DQ of the GDS (r = -0.236, P = 0.047). The subgroup analysis showed that in the longer screen time subgroup of ASD children, the screen time was positively correlated with the CARS score (r = 0.355, P = 0.026) and negatively correlated with the DQs of all domains of the GDS (P < 0.05). In addition, in the younger age group of ASD children, the screen time was positively correlated with the CARS score (r = 0.314, P = 0.021) and negatively correlated with the DQs of all domains of the GDS, except for the personal-social behavior domain (P < 0.05). Conclusion : Compared with TD children, children with ASD have a longer screen time. The screen time is related to autism-like symptoms and the DQs of children with ASD. The longer the screen time, the more severe the symptoms of ASD (especially sensory symptoms), and the more obvious the developmental delay, especially in ASD children with a longer screen time and younger age, particularly in the language domain.

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14. Berry-Kravis E, Zhou L, Jackson J, Tassone F. Diagnostic profile of AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021.

Introduction : In 2009, a novel, CGG repeat primed FMR1 PCR assay was designed with primers flanking the triplet repeat region, as well as a third chimeric primer complementary to the (CGG)n repeat, that was capable of amplifying alleles throughout the repeat range. This assay for the first time allowed consistent detection of large full mutation alleles with PCR, resolution of heterozygosity in females and mapping of AGG interspersions.Areas Covered : The AmplideX Fragile X Dx and Carrier Screen Kit (Asuragen, Inc.) represents a refined assay that underwent validation with sensitivity analyses for FDA approval. Single-site precision, analytical sensitivity and specificity, limit of detection and diagnostic performance was assessed in comparison to reference methods at three independent sites. Single-site precision across all genotype categories showed 100% agreement at 20 ng input across multiple operators, days, instruments and kit lots. Compared to Southern Blot analysis, the overall percent agreement was over 98% for all expanded alleles.Expert Opinion : Limitations include no methylation assessment and hard to see full mutation peaks in some mosaic samples, but overall the assay is considered a highly accurate and time efficient assay for FMR1 allele size determination.

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15. Celik H, Acikel SB, Ozdemir MAF, Aksoy E, Oztoprak U, Ceylan N, Yuksel D. Evaluation of the clinical characteristics of children with autism spectrum disorder and epilepsy and the perception of their parents on quality of life. Epilepsy research. 2021 ; 172 : 106599.

BACKGROUND AND AIM : Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. METHODS : This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. RESULTS : The study sample consisted of 154 ASD patients ; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P < .001). CONCLUSION : Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.

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16. Hotez E, Hotez PJ, Rosenau KA, Kuo AA. Prioritizing COVID-19 vaccinations for individuals with intellectual and developmental disabilities. EClinicalMedicine. 2021 ; 32 : 100749.

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17. Gupta M, Chaudhary R. Diagnostic Challenges of High-Functioning Autism Spectrum Disorder in Females. Cureus. 2021 ; 13(1) : e13006.

In the last decade, research about distinct female phenotypes in autism spectrum disorders has gained momentum. These patients are often undiagnosed since they do not meet the diagnostic criterion. And since the current standardized instruments are based on the same criterion, these assessments may often lead to false negative results. In clinical settings these patients have a distinct presentation, challenges, and impairments. These findings are useful in understanding, early identification, and effectively treating these individuals. We present a case series to highlight these issues and summarize the recent advances in research.

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