1. Erratum to « We Were Absolutely in the Dark »: Latent Analysis of Developmental Disability Nurses’ Experiences During the COVID-19 Pandemic. Global qualitative nursing research. 2022; 9: 23333936221085688.

[This corrects the article DOI: 10.1177/23333936211051705.].

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2. Aarabi MA, Abdi K, Khanjani MS. Psycho-social consequences associated with COVID-19 in people with ASD and their families: A literature review. Medical journal of the Islamic Republic of Iran. 2021; 35: 131.

Background: COVID-19 has become a global pandemic and has inevitably affected the whole world. This effect is greater on people with ASD (ASD) and their families. Depression, attempts to cope with change, and having difficulty interacting with others are some of the challenges people with ASD often face. The aim of this study was to review the psycho-social consequences of COVID-19 in people with ASD and their families. Methods: This study is a Literature Review. Extensive electronic search results for the keywords ASD, COVID-19, Coronavirus, psychological, psychosocial, and consequence in Google Scholar, PubMed, Scopus, ProQuest, Science Direct, SID and Magiran in 2020, eventually provided a total of 130 articles. After reviewing the titles of the articles, we excluded 85 articles as they were duplicated and/or irrelevant. Finally, based on the inclusion and exclusion criteria, 17 articles remained. Results: In general, the change in routine and uncertainty caused by COVID-19 have caused distress for people with ASD and will worsen their symptoms and mental health. Excessive stress worsens the mental health of caregivers, and as this burden increases, they report higher rates of social harm, depression, and anxiety that affect their daily functioning. Conclusion: The COVID-19 epidemic affects all strata of society. People with ASD are particularly vulnerable to the psychosocial effects of this epidemic. COVID-19 increases anxiety, distress, depression, financial problems, loss of a job, and even marital conflict. Access to necessary services and transmission problems are also the result of rapid social and environmental changes.

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3. Abedini M, Mashayekhi F, Salehi Z. Analysis of Insulin-like growth factor-1 serum levels and promoter (rs12579108) polymorphism in the children with autism spectrum disorders. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2022; 99: 289-93.

OBJECTIVES: Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact and facial expression. Changes in growth factors expression including Insulin-like growth factors (IGFs) have been shown in ASD. This project aimed to study the association of IGF-1 (rs12579108) promoter polymorphism and its serum concentration with ASD. METHODS: DNA was extracted from blood samples of 200 ASD children and 198 healthy controls and genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and IGF-1 serum concentration was measured by ELISA. RESULTS: The results showed that the prevalence of AA, CA, and CC genotypes were 2%, 61%, 37% in controls and 4%, 31%, and 65% in ASD patients, respectively (P = 0.0005). The prevalence of A and C alleles in the controls were 33% and 67% and in ASD patients were 19% and 81%, respectively (P = 0.001). We have also showed that serum IGF-1 concentration in ASD and control groups was 31.45 ± 9.84 and 54.62 ± 11.63 ng/ml, respectively (P = 0.001). Our results also showed that AA genotype is significantly related to decreased serum IGF-1 concentrations in ASD (CC, CA and AA serum levels were 50.22 ± 12.68, 33.55 ± 9.13 and 22.55 ± 7.26 and in controls were 77.88 ± 17.14, 54.77 ± 15.31 and 31.33 ± 9.91 ng/ml, respectively). CONCLUSION: It is concluded that there is a significant association between IGF-1 (rs12579108) promoter polymorphism and its serum concentration with ASD. We also suggest that AA genotype is linked to lower IGF-1 serum levels and may play as risk factor for ASD.

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4. Bakke KA. Autism or autisms?. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 2022; 142(5).

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5. Bizzotto S, Walsh CA. Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. Nature reviews Neuroscience. 2022; 23(5): 275-86.

Genetic mosaicism is the result of the accumulation of somatic mutations in the human genome starting from the first postzygotic cell generation and continuing throughout the whole life of an individual. The rapid development of next-generation and single-cell sequencing technologies is now allowing the study of genetic mosaicism in normal tissues, revealing unprecedented insights into their clonal architecture and physiology. The somatic variant repertoire of an adult human neuron is the result of somatic mutations that accumulate in the brain by different mechanisms and at different rates during development and ageing. Non-pathogenic developmental mutations function as natural barcodes that once identified in deep bulk or single-cell sequencing can be used to retrospectively reconstruct human lineages. This approach has revealed novel insights into the clonal structure of the human brain, which is a mosaic of clones traceable to the early embryo that contribute differentially to the brain and distinct areas of the cortex. Some of the mutations happening during development, however, have a pathogenic effect and can contribute to some epileptic malformations of cortical development and autism spectrum disorder. In this Review, we discuss recent findings in the context of genetic mosaicism and their implications for brain development and disease.

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6. Cogswell ME, Coil E, Tian LH, Tinker SC, Ryerson AB, Maenner MJ, Rice CE, Peacock G. Health Needs and Use of Services Among Children with Developmental Disabilities – United States, 2014-2018. MMWR Morbidity and mortality weekly report. 2022; 71(12): 453-8.

Developmental delays, disorders, or disabilities (DDs) manifest in infancy and childhood and can limit a person’s function throughout life* (1-3). To guide strategies to optimize health for U.S. children with DDs, CDC analyzed data from 44,299 participants in the 2014-2018 National Health Interview Survey (NHIS). Parents reported on 10 DDs,(†) functional abilities, health needs, and use of services. Among the approximately one in six (17.3%) U.S. children and adolescents aged 3-17 years (hereafter children) with one or more DDs, 5.7% had limited ability to move or play, 4.7% needed help with personal care, 4.6% needed special equipment, and 2.4% received home health care, compared with ≤1% for each of these measures among children without DDs. Children with DDs were two to seven times as likely as those without DDs to have taken prescription medication for ≥3 months (41.6% versus 8.4%), seen a mental health professional (30.6% versus 4.5%), a medical specialist (26.0% versus 12.4%), or a special therapist, such as a physical, occupational, or speech therapist, (25.0% versus 4.5%) during the past year, and 18 times as likely to have received special education or early intervention services (EIS) (41.9% versus 2.4%). These percentages varied by type of disability and by sociodemographic subgroup. DDs are common, and children with DDs often need substantial health care and services. Policies and programs that promote early identification of children with developmental delays and facilitate increased access to intervention services can improve health and reduce the need for services later in life.(§) Sociodemographic inequities merit further investigation to guide public health action and ensure early and equitable access to needed care and services.

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7. Eig KB, Brandkvist M, Lydersen S, Høyland AL. Autism spectrum disorder in preschool children in Sør-Trøndelag 2016-19. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 2022; 142(5).

BACKGROUND: Autism spectrum disorder (ASD) is an umbrella term covering a range of conditions characterised by challenges with social interaction, restricted interests and repetitive behaviours. The prevalence of ASD has increased significantly in recent years, and there is a clinical impression of a preponderance of cases among young children whose mothers were not born in Norway. MATERIAL AND METHOD: The study included 142 children aged 2 to 6 years who were diagnosed with autism in the county of Sør-Trøndelag, Norway in the period 2016-2019. The following information was collected: age at onset of symptoms and diagnosis, primary diagnosis, ADOS-2 (Autism Diagnostic Observation Schedule) scores, whether the child was born in Norway and the mother’s country of birth. RESULTS: Children of mothers born outside of Norway had a 7.7 times higher risk of being diagnosed with autism than children of Norwegian-born mothers, with an annual incidence of 0.74 % and 0.10 % respectively. These children were diagnosed earlier, at an average age (standard deviation) of 41.9 (11.8) and 51.8 (18.1) months respectively (95 % CI 4.7 to 15.2); a p-value of <0.001 for the difference. They also had a higher ADOS score, with an average (standard deviation) of 19.0 (6.2) and 15.3 (7.1) respectively. INTERPRETATION: The preponderance of autism diagnoses may be an indication that the mothers' country of origin has an impact on the development of the condition. This has implications for adaptions to the assessment and follow-up of this patient group.

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8. Evers K, Maljaars J, Schepens H, Vanaken GJ, Noens I. Conceptualization of quality of life in autistic individuals. Developmental medicine and child neurology. 2022.

The present study examines to what extent two core characteristics of the quality of life (QoL) construct were incorporated in the field of autism: (1) its subjective nature; and (2) its multidimensionality. Therefore, we reviewed 174 articles examining QoL in individuals with autism. The review showed parents reporting a lower QoL compared with autistic individuals themselves, especially on internal domains. This may suggest different expectations about what a good QoL may entail. Such an underestimation of QoL by others is commonly observed in individuals with disabilities (the so-called ‘disability paradox’). For the multidimensionality of the QoL construct, our findings suggest that the narrower (and more unidimensional) construct of health-related QoL is often measured instead of QoL. Additionally, a substantial proportion of items did not measure QoL, but they evaluated characteristics that may or may not have an impact on QoL. Researchers and clinicians should be aware that QoL domains are selected and operationalized differently by different instruments. QoL may benefit from an exclusive focus on subjective aspects, which can be measured alongside more normative, objective characteristics of individuals or their environment.

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9. Famula J, Ferrer E, Hagerman RJ, Tassone F, Schneider A, Rivera SM, Hessl D. Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome. Journal of neurodevelopmental disorders. 2022; 14(1): 23.

BACKGROUND: Carriers of the FMR1 premutation are at increased risk of developing a late-onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by intention tremor, gait ataxia, and cognitive decline. Cross-sectional studies to date have provided evidence that neuropsychological changes, such as executive function alterations, or subtle motor changes, may precede the onset of formal FXTAS, perhaps characterizing a prodromal state. However, the lack of longitudinal data has prevented the field from forming a clear picture of progression over time within individuals, and we lack consensus regarding early markers of risk and measures that may be used to track response to intervention. METHODS: This was a longitudinal study of 64 male FMR1 premutation carriers (Pm) without FXTAS at study entry and 30 normal controls (Nc), aged 40 to 80 years (Pm M = 60.0 years; Nc M = 57.4 years). Fifty of the Pm and 22 of the Nc were re-assessed after an average of 2.33 years, and 37 Pm and 20 Nc were re-assessed a third time after an average of another 2.15 years. Eighteen of 64 carriers (28%) converted to FXTAS during the study to date. Neuropsychological assessments at each time point, including components of the Cambridge Neuropsychological Test Automated Battery (CANTAB), tapped domains of episodic and working memory, inhibitory control, visual attention, planning, executive control of movement, and manual speed and dexterity. Age-based mixed models were used to examine group differences in change over time on the outcomes in the full sample, and differences were further evaluated in 15 trios (n = 45; 15 Pm « converters, » 15 Pm « nonconverters, » 15 Nc) that were one-one matched on age, education, and socioeconomic status. RESULTS: Compared to Nc, Pm showed significantly greater rates of change over time in visual working memory, motor dexterity, inhibitory control, and manual movement speed. After multiple comparison correction, significant effects remained for motor dexterity. Worsening inhibitory control and slower manual movements were related to progression in FXTAS stage, but these effects became statistically non-significant after correcting for multiple comparisons. Higher FMR1 mRNA correlated with worsening manual reaction time but did not survive multiple comparisons and no other molecular measures correlated with neuropsychological changes. Finally, trio comparisons revealed greater rate of decline in planning and manual movement speed in Pm converters compared to Pm nonconverters. CONCLUSIONS: Accelerated decline in executive function and subtle motor changes, likely mediated by frontocerebellar circuits, may precede, and then track with the emergence of formal FXTAS symptoms. Further research to develop and harmonize clinical assessment of FMR1 carriers across centers is needed to prepare for future prophylactic and treatment trials for this disorder.

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10. Fears NE, Palmer SA, Miller HL. Motor skills predict adaptive behavior in autistic children and adolescents. Autism research : official journal of the International Society for Autism Research. 2022.

It is well-documented that intelligence quotient (IQ) is a poor predictor of adaptive behavior scores in autism, with autistic children having lower adaptive behavior scores than would be predicted based on their IQ scores. Differences in motor skills may explain the variability in their adaptive behavior scores. The current study examined how motor skills might explain autistic individuals’ low adaptive behavior scores and which individual components of IQ (i.e., verbal comprehension and perceptual reasoning) and motor skills (i.e., manual dexterity, aiming and catching, and balance) may drive this effect. We examined the associations between IQ, motor skills, calibrated severity, and adaptive behavior scores in 45 autistic children and adolescents. Using a t-test, we found a significant difference (p <0.001) between full-scale IQ and adaptive behavior scores, indicating that our participants' adaptive behavior scores were lower than would be expected given their full-scale IQ. Using a linear regression, we investigated whether motor skills predicted adaptive behavior in autistic children and adolescents and found that motor skills scores were associated with adaptive behavior scores (p = 0.022). To further investigate these associations, we used another linear regression to examine how individual components of IQ and motor skills predicted adaptive behavior scores in autistic children and adolescents. Our results indicated that manual dexterity scores were associated with adaptive behavior scores (p = 0.036). These findings clearly illustrate the need for further understanding of autistic individuals' difficulties with adaptive behavior and the potential role of motor skill difficulties that may underlie these difficulties. LAY SUMMARY: Autistic children have lower adaptive behavior scores (e.g., daily living skills, social skills, communication) than intelligence scores (e.g., verbal and perceptual skills) along with difficulties with motor skills. Motor skills may explain the gap between adaptive behavior and intelligence. We found motor skills were associated with adaptive behavior in autistic children and adolescents. In particular, hand coordination was associated with adaptive behavior. We need to better understand how autistic individuals' motor skills impact their adaptive behavior to provide effective supports.

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11. Kompella S, Vittori A, Kroin J, Kaushal S, Khan S, Neuhut S. Impact of Antipsychotic Use on Readmission Rates in Children and Adolescents With Autism Spectrum Disorder and Irritability. Cureus. 2022; 14(2): e22361.

Background Risperidone and aripiprazole have been established as standard pharmacological treatments for irritability and associated aggressive behaviors in individuals with autism spectrum disorder (ASD), and are the only drugs approved by the United States Food and Drug Administration for those purposes. However, the rates of readmission with the use of these drugs in the pediatric population have not been studied, leaving a gap in the knowledge of antipsychotic effects. Readmission rates are a valuable metric of treatment efficacy that also reflect the financial burden, morbidity, and medical complications associated with multiple hospitalizations. Methodology A retrospective study was conducted in 65 Hospital Corporation of America Healthcare hospitals within the United States from 2016 to 2019. Patients aged 6-17 years with a diagnosis of ASD with irritability were included. The primary outcome was 30-, 60-, and 90-day readmission rates. Chi-square tests of independence and post-hoc analyses were used to assess the relatedness between readmission rate and antipsychotic use, as well as the type of antipsychotic medication if used. A binary regression analysis was used to analyze the relationship between demographic characteristics and readmission rate in this population. Patients on antidepressants, anxiolytics, or medications primarily used as mood stabilizers were excluded from the study to reduce confounding effects of such medications. Results A total of 2,375 patients aged 6-17 years were admitted for irritability and a diagnosis of ASD. In total 323 (13.8%) patients were readmitted from this group within 30 days of discharge. After controlling for age, sex, and gender, the use of antipsychotic medication was found to decrease 30- and 90-day readmission rates with an odds ratio of 1.2 to 1.4 times compared to no antipsychotic use (p < 0.04). In patients with autism not on antipsychotics, regression analysis revealed that older age (p = 0.0471) and White race (p = 0.0471) were associated with 30-day readmission (a = 0.05). For these patients, race was also significantly associated with 60-day (p = 0.0494) and 90-day (p = 0.0416) readmission rates. In patients with autism on either risperidone or aripiprazole, age (p = 0.0393) and race (p = 0.0316) were significantly associated with 30-day readmission rate. Conclusions Antipsychotic use reduced readmission rates within 30 days and 90 days in patients with irritability and ASD. Additionally, oral aripiprazole and oral risperidone were found to be equally effective in reducing the 30-day readmission rate, and neither was superior in comparison to the other in 30-, 60-, or 90-day readmission rates. The reduced 30- and 90-day readmission rates seen in our study with the use of antipsychotic medications emphasize the importance of antipsychotic use for individuals with ASD and irritability, even if the antipsychotic is not risperidone or aripiprazole. Groups who can particularly benefit from antipsychotic use include individuals who are refractory to first- and second-line therapies, such as behavioral interventions, or for those who present with persistent and serious risk of harm to themselves or others. Additionally, the use of antipsychotic medications in this scenario may reduce hospitalizations within 30 days of discharge, allowing reduction of the financial and emotional strain associated with these readmissions.

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12. Mukkiri S, Kandasamy P, Subramanian M, Chandrasekaran V, Kattimani S. Content validation of school readiness module and school readiness scale for assessing school readiness in children with autism spectrum disorder. Asian journal of psychiatry. 2022; 71: 103073.

BACKGROUND: There is a paucity of research on interventions targeting preschool children with autism spectrum disorders (ASD) for school readiness. OBJECTIVES: The objectives of this study are to develop and validate a school readiness module for making children with ASD ready for inclusive education and a scale to assess school readiness in them. METHODS: Based on literature review, principles of learning, and techniques of behavioral intervention, a module was developed and reviewed by independent experts regarding the utility of the contents. A scale to assess school readiness was also developed to measure the impact of administering the module on children with ASD which was also validated by the same set of experts. Lawshe’s content validity ratio was used to assess the appropriateness of each item for inclusion in the module and scale. RESULTS: Experts (n = 6) gave their opinion on the usefulness of the School Readiness module for children with ASD. The experts agreed that most of the content under each component were valid with the exception of identification of objects by function, identification of environmental sounds and answering social questions. Similarly, in the school readiness scale there was good agreement for all items except for 1 item under domain 2 and 2 items under domain 5. CONCLUSION: A school readiness module and a scale to assess school readiness based on interventions provided as per the school readiness module were developed and validated. Further studies are needed to assess the utility of the module and scale in children with ASD.

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13. Piro-Gambetti B, Greenlee J, Hickey EJ, Putney JM, Lorang E, Hartley SL. Parental Depression Symptoms and Internalizing Mental Health Problems in Autistic Children. Journal of autism and developmental disorders. 2022.

Autistic youth are at risk for internalizing mental health problems such as depression and anxiety. Similarly, parents of autistic youth report higher levels of depression than parents of typically developing children. The goal of this study was to examine bidirectional associations between parent depression symptoms and the internalizing problems of autistic youth in 188 families across four time points (T1-T4; spaced 12 months apart). A cross-lagged panel model revealed that mother (T1 and T2) and father (T1) depression symptoms positively predicted the youth’s internalizing problems 12 months later. The youth’s internalizing problems at T3 positively predicted maternal depression symptoms at T4. Future research should explore genetic and environmental pathways that link parent depression and internalizing problems in autistic youth.

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14. Simmons CA, Ardoin SP, Ayres KM, Powell LE. Parent-implemented self-management intervention on the on-task behavior of students with autism. School psychology (Washington, DC). 2022.

Despite extensive research examining self-management interventions for individuals with autism spectrum disorder (ASD),¹ researchers have failed to evaluate self-management procedures for on-task behavior in the home environment or with parents as interventionists. Using an ABAB design, the present study examined the effectiveness of a parent-implemented intervention consisting of self-monitoring, self-evaluation, and contingent reinforcement to increase on-task behavior of three participants completing independent school work in their home. Traditional and masked visual analysis of single-case design data indicate that, across participants, the intervention increased on-task behavior, intervention effects were maintained at postintervention, parents implemented the intervention with high fidelity, parents and children rated procedures as high in social validity, and observations via live video technology resulted in high correspondence between parent and child ratings. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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15. Sotoudeh Anvari M, Vasei H, Najmabadi H, Badv RS, Golipour A, Mohammadi-Yeganeh S, Salehi S, Mohamadi M, Goodarzynejad H, Mowla SJ. Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing. Scientific reports. 2022; 12(1): 5011.

Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene which can lead to a loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs and can cause a range of neurological disorders. Therefore, miRNAs could act as a novel class of biomarkers for common CNS diseases. This study aimed to test this theory by exploring the expression profiles of various miRNAs in Iranian using deep sequencing-based technologies and validating the miRNAs affecting the expression of the FMR1 gene. Blood samples were taken from 15 patients with FXS (9 males, 6 females) and 12 controls. 25 miRNAs were differentially expressed in individuals with FXS compared to controls. Levels of 9 miRNAs were found to be significantly changed (3 upregulated and 6 downregulated). In Patients, the levels of hsa-miR-532-5p, hsa-miR-652-3p and hsa-miR-4797-3p were significantly upregulated while levels of hsa-miR-191-5p, hsa-miR-181-5p, hsa-miR-26a-5p, hsa-miR-30e-5p, hsa-miR-186-5p, and hsa-miR-4797-5p exhibited significant downregulation; and these dysregulations were confirmed by RT-qPCR. This study presents among the first evidence of altered miRNA expression in blood samples from patients with FXS, which could be used for diagnostic, prognostic, and treatment purposes. Larger studies are required to confirm these preliminary results.

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16. Yen C. Exploring member’s knowledge sharing intention in online health communities: The effects of social support and overload. PloS one. 2022; 17(3): e0265628.

This study explores the determinants of members’ participation intention in online health communities (OHC) from both the facilitators and barriers points of view. From the facilitators perspective, each member’s subjective well-being plays a crucial role in sharing intention. On the other hand, from the barriers point of view, social network site exhaustion would negatively affect. The survey was conducted on two online support groups, including parents of children with autism spectrum disorder and caregivers of dementia disease. This study collected 330 questionnaires from social network sites to examine the research model. The results showed that social support positively affects members’ self-efficacy; in turn, self-efficacy has a positive effect on subjective well-being. Overload has an impact on psychological distress. Moreover, members’ subjective well-being determined their knowledge sharing intention.

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17. Zerbi V, Pagani M, Markicevic M, Matteoli M, Pozzi D, Fagiolini M, Bozzi Y, Galbusera A, Scattoni ML, Provenzano G, Banerjee A, Helmchen F, Basson MA, Ellegood J, Lerch JP, Rudin M, Gozzi A, Wenderoth N. Correction: Brain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes. Molecular psychiatry. 2022.

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