1. Alonso-Sardón M, Sáez-Lorenzo M, Chamorro AJ, Fernández-Martín LC, Iglesias-de-Sena H, González-Núñez V, Santos-Sánchez J, Carbonell C, Lorenzo-Gómez MF, Mirón-Canelo JA. Adverse Effects in Patients with Intellectual and Developmental Disabilities Hospitalized at the University Clinical Hospital. Journal of personalized medicine. 2022; 12(11).

(1) Background: Providing the patient with the health care they need in a personalized and appropriate manner and without adverse effects (AEs) is a part of quality of care and patient safety. The aim of this applied research project was the assessment of AEs as a clinical risk in patients with high social vulnerability such as persons with intellectual and developmental disabilities (PwIDD). (2) Methods: A retrospective epidemiological cohort study was performed on exposed and unexposed groups (the control group) in order to estimate the incidence of AEs in PwIDDs and assess their importance for this category of patients. (3) Results: AEs were observed with a frequency of 30.4% (95% CI) in the PwIDD exposed group, with significant differences to the unexposed group (p = 0.009). No differences were observed with regards to gender. Age was as a marker of care risk, with the highest incidence of AEs in the group of 60-69 years. (4) Conclusions: PwIDDs have a high risk of suffering AEs while receiving health care assistance due to their high social and clinical vulnerability. Health care practitioners must therefore be aware of these results and keep these observations in mind in order to carry out personalized, preventive, competent, effective, and safe medical care.

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2. Andoni L, Hamsho N, Blacher J, Eisenhower A. Psychometric properties of a parent- and teacher-report measure for autistic children: Parent-Teacher Relationship Quality Scale (PTRQS). Journal of school psychology. 2022; 95: 25-42.

Parent-teacher relationship (PTR) quality is linked to child and family-school functioning and may be especially important in the school adjustment of autistic children. However, measurement of PTR quality has been limited by inconsistency in the use of measures, a paucity of two-informant measurement, and limited psychometric consideration. We examined the psychometric properties of the Parent-Teacher Relationship Quality Scale (PTRQS), a parent- and teacher-report measure of PTR quality derived from multiple sources. Specifically, we examined the factor structure, reliability, and convergent validity of the PTRQS among parents and teachers of 192 autistic children in preschool to 2nd grade. Results supported a three-factor model, including (1) parent-perceived relationship quality, (2) teacher-perceived comfort with parent(s), and (3) teacher perceptions of parent abilities. Scores exhibited high internal consistency. As evidence of convergent validity, all three factors of PTR quality, as well as the total PTRQS score, were strongly associated with parent interview-based PTR quality, parent perceptions of teacher effectiveness, and teacher-rated parental school involvement. The two teacher-rated PTR quality factors were also associated with student-teacher relationship quality. Results indicated that (a) the measure can validly capture PTR quality in the context of preschool and early elementary-age autistic children, (b) early PTR quality is linked to parental involvement, and (c) teacher-rated PTR factors are linked to autistic students’ own relationships with their teachers. The results have implications for researchers and school psychologists measuring PTR quality in their practice.

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3. Chang YS, Chen LW, Yu T, Lin SH, Kuo PL. Preterm birth and weight-for-gestational age for risks of autism spectrum disorder and intellectual disability: A nationwide population-based cohort study. Journal of the Formosan Medical Association = Taiwan yi zhi. 2022.

PURPOSE: To evaluate gestational age (GA) and small-for-gestational age (SGA) as continuums and gender on the incidences of autism spectrum disorder (ASD) and co-occurring intellectual disability (ID). METHODS: This is a population-based cohort study using the 2004-2008 Taiwan Maternal and Child Health Database. The diagnosis of ASD was determined by International Classification of Diseases, 9th Revision (ICD-9). Generalized estimating equations models were fit to evaluate associations between perinatal variables and ASD. RESULTS: This study included 916,315 individuals. A total of 9474 (1.0%) children were diagnosed with ASD, among whom 1594 (16.8%) had co-occurring ID. Lower GA carried higher odds of ASD with ID (GA < 28 weeks, aOR: 4.26, 95% CI: 2.13, 8.50; GA 28-30 weeks, aOR: 2.80, 95% CI: 1.57, 4.97; GA 31-33 weeks, aOR: 1.63, 95% CI: 1.05, 2.55; GA 34-36 weeks, aOR: 1.39, 95% CI: 1.16, 1.67) and ASD without ID (GA < 28 weeks, aOR:2.05, 95% CI: 1.25, 3.36; GA 28-30 weeks, aOR: 2.02, 95% CI: 1.46, 2.79; GA 31-33 weeks, aOR: 1.42, 95% CI: 1.13, 1.77; GA 34-36 weeks, aOR: 1.18, 95% CI: 1.08, 1.29). Male preterm infants had ASD risks negatively correlated to GA, while ASD risks were significantly increased only among female infants born late preterm. The degree of SGA showed a stepwise increased risk for ASD with and without ID in both male and female infants. CONCLUSION: Lower GA and the degree of SGA are both associated with ASD susceptibility, either with or without co-occurring ID, and remarkably increased the risk of ID.

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4. de Camargo RW, de Novais Júnior LR, da Silva LM, Meneguzzo V, Daros GC, da Silva MG, de Bitencourt RM. Implications of the endocannabinoid system and the therapeutic action of cannabinoids in autism spectrum disorder: A literature review. Pharmacology, biochemistry, and behavior. 2022; 221: 173492.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, onset in early childhood and associated with cognitive, social, behavioral, and sensory impairments. The pathophysiology is still unclear, and it is believed that genetic and environmental factors are fully capable of influencing ASD, especially cell signaling and microglial functions. Furthermore, the endocannabinoid system (ECS) participates in the modulation of various brain processes and is also involved in the pathophysiological mechanisms of this condition. Due to the health and quality of life impacts of autism for the patient and his/her family and the lack of effective medications, the literature has elucidated the possibility that Cannabis phytocannabinoids act favorably on ASD symptoms, probably through the modulation of neurotransmitters, in addition to endogenous ligands derived from arachidonic acid, metabolizing enzymes and even transporters of the membrane. These findings support the notion that there are links between key features of ASD and ECS due to the favorable actions of cannabidiol (CBD) and other cannabinoids on symptoms related to behavioral and cognitive disorders, as well as deficits in communication and social interaction, hyperactivity, anxiety and sleep disorders. Thus, phytocannabinoids emerge as therapeutic alternatives for ASD.

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5. Denisova K, Lin Z. The importance of low IQ to early diagnosis of autism. Autism research : official journal of the International Society for Autism Research. 2022.

Some individuals can flexibly adapt to life’s changing demands while others, in particular those with Autism Spectrum Disorder (ASD), find it challenging. The origin of early individual differences in cognitive abilities, the putative tools with which to navigate novel information in life, including in infants later diagnosed with ASD remains unexplored. Moreover, the role of intelligence quotient (IQ) vis-à-vis core features of autism remains debated. We systematically investigate the contribution of early IQ in future autism outcomes in an extremely large, population-based study of 8000 newborns, infants, and toddlers from the US between 2 and 68 months with over 15,000 cross-sectional and longitudinal assessments, and for whom autism outcomes are ascertained or ruled out by about 2-4 years. This population is representative of subjects involved in the National Institutes of Health (NIH)-funded research, mainly on atypical development, in the US. Analyses using predetermined age bins showed that IQ scores are consistently lower in ASD relative to typically developing (TD) children at all ages (p < 0.001), and IQ significantly correlates with social, non-social, and total Calibrated Severity Scores (CSS) on the Autism Diagnostic Observation Schedule (ADOS) (p<0.01). Lower IQ is associated with greater autistic impairments. Note, verbal IQ (VIQ) is no better than the full-scale IQ to predict ASD cases. These findings raise new, compelling questions about potential atypical brain circuitry affecting performance in both verbal and nonverbal abilities and preceding an ASD diagnosis. This study is the first to establish prospectively that low early IQ is a major feature of ASD in early childhood. LAY SUMMARY: The role of IQ scores in autism remains debated. We systematically investigate the contribution of early IQ in an extremely large study of 8,000 children between 2 and 68 months with autism outcomes by about 2-4 years. We show that IQ scores are consistently lower in ASD relative to TD children. This study is the first to establish prospectively that low early IQ is a predictor for ASD diagnosis in early childhood.

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6. Di Vara S, Guerrera S, Valeri G, Vicari S. Later onset of Childhood Disintegrative Disorder (CDD): a case report. Neurocase. 2022; 28(4): 369-74.

Childhood Disintegrative Disorder (CDD) is a rare condition characterized by regression of developmental and behavioral functioning after a period of apparently normal development, with an age of onset around 4 years. CDD is not included within the latest edition of the Diagnostic and Statistical Manual of Mental Disorders. We present a case report of an 11-year-old male who achieved normal development for up to 7 years followed by a deterioration of previously acquired linguistic, intellectual, and social skills. Following treatment with lithium carbonate combined with risperidone, the patient experienced a reduction in irritability and aggression. CDD is a rare condition; therefore, the data presented may be useful to investigate its characteristics of the onset, to improve the understanding of the aspects of differentiation from the Autism Spectrum Disorder and finally to propose the possibility of treatment.

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7. Madley-Dowd P, Dardani C, Wootton RE, Dack K, Palmer T, Thurston R, Havdahl A, Golding J, Lawlor D, Rai D. Maternal vitamin D during pregnancy and offspring autism and autism-associated traits: a prospective cohort study. Molecular autism. 2022; 13(1): 44.

BACKGROUND: There has been a growing interest in the association between maternal levels of vitamin D during pregnancy and offspring autism. However, whether any associations reflect causal effects is still inconclusive. METHODS: We used data from a UK-based pregnancy cohort study (Avon Longitudinal Study of Parents and Children) comprising 7689 births between 1991 and 1992 with maternal blood vitamin D levels recorded during pregnancy and at least one recorded outcome measure, including autism diagnosis and autism-associated traits. The association between each outcome with seasonal and gestational age-adjusted maternal serum 25-hydroxyvitamin D during pregnancy was estimated using confounder-adjusted regression models. Multiple imputation was used to account for missing data, and restricted cubic splines were used to investigate nonlinear associations. Mendelian randomization was used to strengthen causal inference. RESULTS: No strong evidence of an association between maternal serum 25-hydroxyvitamin D during pregnancy and any offspring autism-associated outcome was found using multivariable regression analysis (autism diagnosis: adjusted OR = 0.98, 95% CI = 0.90-1.06), including with multiple imputation (autism diagnosis: adjusted OR = 0.99, 95% CI = 0.93-1.06), and no evidence of a causal effect was suggested by Mendelian randomization (autism diagnosis: causal OR = 1.08, 95% CI = 0.46-2.55). Some evidence of increased odds of autism-associated traits at lower levels of maternal serum 25-hydroxyvitamin D was found using spline analysis. LIMITATIONS: Our study was potentially limited by low power, particularly for diagnosed autism cases as an outcome. The cohort may not have captured the extreme lows of the distribution of serum 25-hydroxyvitamin D, and our analyses may have been biased by residual confounding and missing data. CONCLUSIONS: The present study found no strong evidence of a causal link between maternal vitamin D levels in pregnancy and offspring diagnosis or traits of autism.

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8. Malijauskaite S, Sauer AK, Hickey SE, Franzoni M, Grabrucker AM, McGourty K. Identification of the common neurobiological process disturbed in genetic and non-genetic models for autism spectrum disorders. Cellular and molecular life sciences : CMLS. 2022; 79(12): 589.

Autism spectrum disorders (ASD) are neurodevelopmental disorders. Genetic factors, along with non-genetic triggers, have been shown to play a causative role. Despite the various causes, a triad of common symptoms defines individuals with ASD; pervasive social impairments, impaired social communication, and repeated sensory-motor behaviors. Therefore, it can be hypothesized that different genetic and environmental factors converge on a single hypothetical neurobiological process that determines these behaviors. However, the cellular and subcellular signature of this process is, so far, not well understood. Here, we performed a comparative study using « omics » approaches to identify altered proteins and, thereby, biological processes affected in ASD. In this study, we mined publicly available repositories for genetic mouse model data sets, identifying six that were suitable, and compared them with in-house derived proteomics data from prenatal zinc (Zn)-deficient mice, a non-genetic mouse model with ASD-like behavior. Findings derived from these comparisons were further validated using in vitro neuronal cell culture models for ASD. We could show that a protein network, centered on VAMP2, STX1A, RAB3A, CPLX2, and AKAP5, is a key convergence point mediating synaptic vesicle release and recycling, a process affected across all analyzed models. Moreover, we demonstrated that Zn availability has predictable functional effects on synaptic vesicle release in line with the alteration of proteins in this network. In addition, drugs that target kinases, reported to regulate key proteins in this network, similarly impacted the proteins’ levels and distribution. We conclude that altered synaptic stability and plasticity through abnormal synaptic vesicle dynamics and function may be the common neurobiological denominator of the shared behavioral abnormalities in ASD and, therefore, a prime drug target for developing therapeutic strategies.

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9. Moseley RL, Gregory NJ, Smith P, Allison C, Cassidy S, Baron-Cohen S. Non-suicidal self-injury and its relation to suicide through acquired capability: investigating this causal mechanism in a mainly late-diagnosed autistic sample. Molecular autism. 2022; 13(1): 45.

BACKGROUND: Non-suicidal self-injury (NSSI) has been linked with a higher risk of suicide attempts in autistic and non-autistic people. In the general population, NSSI may confer acquired capability for suicide by eroding one’s fear and avoidance of pain and death. The present study aimed to explore acquired capability as the mediator of increased suicide risk conferred by NSSI in autistic and non-autistic adults. METHODS: Autistic and non-autistic adults (n = 314, n = 312) completed an online survey exploring lifetime suicide attempts, experience with NSSI, and acquired capability for suicide. We explored relationships between lifetime incidence of NSSI and lifetime suicide attempts via three facets of acquired capability (pain tolerance, reduced fear of death, and mental rehearsal of suicide). In self-harming participants (224 autistic and 156 non-autistic), we explored whether particular types and features of NSSI might be especially associated with capability and through that with suicide: namely engagement in scratching, cutting, and self-hitting, and engaging in more numerous forms of NSSI. RESULTS: While a higher frequency of NSSI was associated with all three facets of acquired capability, only reduced fear of death and mental rehearsal of suicide mediated an indirect relationship with lifetime suicide attempts. NSSI also directly predicted more numerous suicide attempts. Autistic people tended towards reduced fear of death and mental rehearsal regardless of NSSI status. Among self-harming autistic and non-autistic participants, cutting and an increased number of NSSI behaviours were associated with lifetime suicide attempts directly and indirectly via acquired capability. In both groups, self-hitting was associated with lifetime suicide attempts only via acquired capability. LIMITATIONS: Our cross-sectional methodology negates inferences of directionality. While we controlled for age, our samples were poorly matched, with the autistic group two times older on average. The autistic sample, predominantly late-diagnosed, female and highly qualified, were unrepresentative of the whole autistic community. CONCLUSIONS: Our data suggest that acquired capability, as measured herein, is an incomplete explanation for the association between NSSI and suicide risk. A broader construct with stable and transient facets may offer greater explanatory power, but it is probable that other variables explain or provide additional means through which this association arises.

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10. Shahrokhi Kahnooj H, Dadgar H, Saberi H. Validity and reliability of the Persian version of the WH-Question comprehension test in children With autism. Applied neuropsychology Child. 2022: 1-6.

Questions form essential components of everyday speech; therefore, it is appropriate to evaluate children with autism to understand what they are asking during the daily conversation. A proper tool is required to assess questions formed through interrogative pronouns (what are commonly known as Wh-questions). The present study investigates the validity and reliability of the WH-Question comprehension test in children with autism. A sample of 52 neurotypical children were recruited from nursery and primary schools, and a sample of 28 children with autism were recruited from different centers for children with autism. The WH-Comprehension test was translated into Persian according to the international test commission (ITC) guideline. The reliability of the test was determined by test-retest and Cronbach’s alpha approach. The face validity of the Persian version of the « WH-Comprehension test » was confirmed. The CVR for the test was equal to 0.85%, and the CVI was equal to 0.89%. Furthermore, the Intraclass Correlation Coefficient (ICC) for the total score was equal to 0.95, and Cronbach’s Alpha Coefficient was calculated as 0.92. The results indicate that the translated WH-Comprehension test has acceptable validity and reliability within the sampled Persian groups and can be a helpful research tool.

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11. Shea LL, Wong MY, Song W, Kaplan K, Uppal D, Salzer MS. Autistic-Delivered Peer Support: A Feasibility Study. Journal of autism and developmental disorders. 2022: 1-14.

Peer support has been an undeveloped pathway for filling the service gap and to generate employment opportunities for autistic individuals. Peer supports have been deployed widely in mental health and among veterans and understanding the utility of this service modality among autistic individuals illuminates opportunities for research, policy, and practice. This study examined characteristics of participants in an autistic-delivered peer support program and reports on use of and satisfaction with the program. Half of autistic participants had a co-occurring mental health diagnosis. Participants reported multiple areas of unmet needs and participant satisfaction with the program was high (90%). The findings of this study point toward autistic-delivered peer support as a promising avenue for future development.

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