1. Accogli A, El Kosseifi C, Saint-Martin C, Addour-Boudrahem N, Rivière JB, Toffoli D, Lopez I, Qian C, Koenekoop RK, Srour M. PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy. European journal of medical genetics. 2022; 65(2): 104405.

PCDH12 is a member of the non-clustered protocadherins that mediate cell-cell adhesion, playing crucial roles in many biological processes. Among these, PCDH12 promotes cell-cell interactions at inter-endothelial junctions, exerting essential functions in vascular homeostasis and angiogenesis. However, its exact role in eye vascular and brain development is not completely understood. To date, biallelic loss of function variants in PCDH12 have been associated with a neurodevelopmental disorder characterized by the typical neuroradiological findings of diencephalic-mesencephalic junction dysplasia and intracranial calcifications, whereas heterozygous variants have been recently linked to isolated brain calcifications in absence of cognitive impairment or other brain malformations. Recently, the phenotypic spectrum associated with PCDH12 deficiency has been expanded including cerebellar and eye abnormalities. Here, we report two female siblings harboring a novel frameshift homozygous variant (c.2169delT, p.(Val724TyrfsTer8)) in PCDH12. In addition to the typical diencephalic-mesencephalic junction dysplasia, brain MRI showed dysmorphic basal ganglia and thalamus that were reminiscent of a tubulin-like phenotype, mild cerebellar vermis hypoplasia and extensive prominence of perivascular spaces in both siblings. The oldest sister developed profound and progressive monocular visual loss and the eye exam revealed exudative vitreoretinopathy. Similar but milder eye changes were also noted in her younger sister. In summary, our report expands the clinical (brain and ocular) spectrum of PCDH12-related disorders and adds a further line of evidence underscoring the important role of PCDH12 in retinal vascular and brain development.

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2. Bernath B, Kanji Z. Exploring barriers to oral health care experienced by individuals living with autism spectrum disorder. Canadian journal of dental hygiene : CJDH = Journal canadien de l’hygiene dentaire : JCHD. 2021; 55(3): 160-6.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder that affects behaviour and communication skills. ASD is estimated to affect approximately 1 in 66 Canadians, with symptoms typically arising within the first 3 years of life. Individuals with ASD present with an increased burden of disease and face heightened barriers to oral care. OBJECTIVE: This narrative literature review aims to raise awareness of the additional needs that individuals with ASD have when seeking oral care and to identify how barriers to such care may be reduced. METHODS: Twenty-one articles were included in this review, with a wide range of study designs and methodologies. Search terms in PubMed, Education Source, and CINAHL databases included autism spectrum disorder, barriers, dental, dental hygiene, developmental disability, oral health, and unmet needs. RESULTS AND DISCUSSION: Key themes that emerged as barriers to care were behavioural challenges, inhibited social and communication skills, parental dependence, clinic environment, and abilities of oral health professionals to treat clients with special care needs. CONCLUSION: Current literature reveals that individuals with ASD face numerous barriers when accessing oral care and attempting to achieve adequate oral health, thus contributing to an increased burden of disease. Oral health professionals should aim to improve their understanding of special care populations such as the ASD community and raise awareness among health care professionals to work towards diminishing the barriers to care these populations experience.

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3. Chen YY, Uljarevic M, Neal J, Greening S, Yim H, Lee TH. Excessive Functional Coupling With Less Variability Between Salience and Default Mode Networks in Autism Spectrum Disorder. Biological psychiatry Cognitive neuroscience and neuroimaging. 2021.

BACKGROUND: Atypical activity in the salience network (SN) and default mode network (DMN) has been previously reported in individuals with autism spectrum disorder (ASD). However, no study to date has investigated the nature and dynamics of the interaction between these two networks in ASD. METHODS: Here, we aimed to characterize the functional connectivity between the SN and the DMN by using resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange and comparing individuals with ASD (n = 325) to a typically developing group (n = 356). We examined static and dynamic levels of functional connectivity using the medial prefrontal cortex (mPFC) seed as a core region of the DMN. RESULTS: We found that individuals with ASD have higher mPFC connectivity with the insula, a core region of the SN, when compared with the typical development group. Moreover, the mPFC-insula coupling showed less variability in ASD compared with the typical development group. A novel semblance-based network dynamic analysis further confirmed that the strong mPFC-insula coupling in the ASD group reduced spontaneous attentional shift for possible external elements of the environment. Indeed, we found that excessive mPFC-insula coupling was significantly associated with a tendency for reduced social responsiveness. CONCLUSIONS: These findings suggest that the internally oriented cognition in individuals with ASD may be due to excessive coupling between the DMN and the SN.

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4. Gaspar JM, Carvalho HM, Camacho-Morales A. Editorial: Metabolic Disorders Associated With Autism Spectrum Disorders: Approaches for Intervention. Frontiers in neuroscience. 2021; 15: 809978.

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5. Hnoonual A, Jankittunpaiboon C, Limprasert P. Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder. BioMed research international. 2021; 2021: 4359308.

Autism spectrum disorder (ASD) is a complex disorder with a heterogeneous etiology. Fragile X syndrome (FXS) is recognized as the most common single gene mutation associated with ASD. FXS patients show some autistic behaviors and may be difficult to distinguish at a young age from autistic children. However, there have been no published reports on the prevalence of FXS in ASD patients in Thailand. In this study, we present a pilot study to analyze the CGG repeat sizes of the FMR1 gene in Thai autistic patients. We screened 202 unrelated Thai patients (168 males and 34 females) with nonsyndromic ASD and 212 normal controls using standard FXS molecular diagnosis techniques. The distributions of FMR1 CGG repeat sizes in the ASD and normal control groups were similar, with the two most common alleles having 29 and 30 CGG repeats, followed by an allele with 36 CGG repeats. No FMR1 full mutations or premutations were found in either ASD individuals or the normal controls. Interestingly, three ASD male patients with high normal CGG and intermediate CGG repeats (44, 46, and 53 CGG repeats) were identified, indicating that the prevalence of FMR1 intermediate alleles in Thai ASD patients was approximately 1% while these alleles were absent in the normal male controls. Our study indicates that CGG repeat expansions of the FMR1 gene may not be a common genetic cause of nonsyndromic ASD in Thai patients. However, further studies for mutations other than the CGG expansion in the FMR1 gene are required to get a better information on FXS prevalence in Thai ASD patients.

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6. Kalayci BM, Nalbant K, Akdemir D. Autistic Traits and Social Responsiveness: The Relationship Between Autistic Traits and Comorbid Psychiatric Symptoms in Adolescents with Anorexia Nervosa. Noro psikiyatri arsivi. 2021; 58(4): 283-8.

INTRODUCTION: It is known that patients with anorexia nervosa (AN) display social difficulties like social responsiveness and high levels of autistic behaviors such as rigidity, narrow interests of food and weight; however it is not clear whether they have comorbid Autism Spectrum Disorders (ASD) or it is about acute phase of illness. In this study it is aimed to investigate autistic traits and social responsiveness in adolescents with AN. METHODS: Study group was consisted of 39 female AN patients aged between 12-18 years. Control group was consisted of 34 female adolescents who did not have any psychiatric disorder. K-SADS-PL was applied to all participants in order to detect the psychiatric disorders. Autism traits and social responsiveness were evaluated using Social Responsiveness Scale. All adolescents of the study were administered The Eating Attitude Test, Beck Depression Inventory, Screen for Child Anxiety and Related Disorders, Maudsley Obsesive Compulsive Inventory. RESULTS: Results of the study indicated that adolescents with AN had higher symptoms of depression, anxiety and autism-like symptom clusters; and lower social responsiveness. Psychiatric comorbidities were not associated with these difficulties. CONCLUSION: The results show that AN patients have an impairment of social responsiveness, the impairment seems to be associated with AN regardless of psychiatric comorbidities. Despite these two disorders are considered unrelated, they have several traits in common. These results suggest that there may be a common pathogenesis between ASD and AN.

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7. Klein CB, Swain DM, Vibert B, Clark-Whitney E, Lemelman AR, Giordano JA, Winter J, Kim SH. Implementation of Video Feedback Within a Community Based Naturalistic Developmental Behavioral Intervention Program for Toddlers With ASD: Pilot Study. Frontiers in psychiatry. 2021; 12: 763367.

Video feedback (VF) is an intervention delivery technique that complements naturalistic developmental behavioral interventions (NDBI) and parent-mediated interventions (PMI) by using caregiver-child interaction videos reviewed with a clinician to facilitate behavioral change in caregivers. Although VF has been implemented in PMI with young children with ASD, examinations of feasibility and acceptability, as well as the potential effectiveness of VF in community settings, have been limited. In this pilot randomized control trial (NCT03397719; https://clinicaltrials.gov/ct2/show/NCT03397719), families were randomized into a state-funded Early Intervention (EI) NDBI program or the NDBI program augmented with VF. Results demonstrated high levels of implementation and acceptability of VF augmenting the community-based EI program in caregivers and clinicians. Both groups showed significant improvements after 6 months in social communication symptoms and some areas of developmental and adaptive skills. Clinical Trial Registration:https://clinicaltrials.gov/ct2/show/NCT03397719, identifier: NCT03397719.

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8. Martucci M, Fava G, Giacchetti N, Aceti F, Galeoto G, Panfili M, Sogos C. Perinatal depression as a risk factor for child developmental disorders: a cross-sectional study. Rivista di psichiatria. 2021; 56(6): 321-7.

AIMS: The first aim of this study, has been to observe the differences in developmental profiles of children of depressed mothers in comparison with children of undepressed mothers in a period from 3 to 12 months after childbirth through a cross-sectional study. The second aim of the study has been to describe the differences of romantic attachment style, mother-child bond and parenting stress of depressed mothers in comparison with a control sample. MATERIAL AND METHODS: The clinical sample examined consisted of 46 depressed mothers of the Perinatal Psychopathology of an hospital in Rome and their children aged between 3 and 12 months compared with a control sample of 28 mothers without PD and their children matched to cases by age. The children were evaluated by using Bayley Scales of Infant development III. Mothers assessment included Edinburgh Postnatal Depression Scale, Maternal Postpartum Attachment Scale, The Experience in Close Relationships-Revised and The short-form Parenting Stress Index. RESULTS: Depressed mothers showed a lower score at the assessment of mother-child bond and an increased parental stress in comparison with the control sample. Children of depressed mothers had lower scores in all Bayley Scales, with statistically significant differences between two groups for all scales. CONCLUSIONS: Results leads to the importance of including maternal mental health into primary health care to treat depressed mothers and prevent consequences for child development.

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9. Nisticò V, Gambini O, Pizzi L, Faggioli R, Priori A, Demartini B. A paradoxical psychological impact of COVID-19 among a sample of Italian adults with High Functioning Autism Spectrum Disorder. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2022; 95: 27-30.

BACKGROUND: Since February 2020, many governments of the world ordered strict social distancing rules to try to contain the COVID-19 pandemic, with a reported consequent increase in levels of stress, anxiety and depression in the general population. Aim of this study was to assess the prevalence of the aforementioned psychiatric symptoms across a sample of individuals with High Functioning Autism Spectrum Disorders (HF-ASDs) with respect to a group of neurotypical adults (NA), during the first two months of COVID-19 pandemic in Italy. METHOD: 45 adults with HF-ASDs and 45NA completed a structured online questionnaire, including; the Depression, Anxiety and Stress Scale – 21 items (DASS-21); the Impact of Event Scale-Revised (IES-R); the Perceived Stress Scale (PSS). We also explored some specific aspects of participants’ psychological well-being through an ad-hoc questionnaire. RESULTS: Subjects with HF-ASDs scored significantly higher than NA at the DASS-21, the IES-R Total Score and the PSS; NA reported a higher perceived change of their lifestyle during the lockdown than individuals with HF-ASDs, and subjects with HF-ASDs reported to feel more comfortable and less tired during the lockdown period, in relation to the social distancing measures adopted by Italian authorities. CONCLUSIONS: Adults with HF-ASDs presented higher rates of depression, anxiety, stress and PTSD-related symptoms than NA during the first two months of COVID-19 pandemic. However, they also reported to feel subjectively more comfortable and less tired during the lockdown than before, in relation to the social distancing measures.

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10. Norman S, Atabaki S, Atmore K, Biddle C, DiFazio M, Felten D, Fox E, Marschall D, Newman J, Robb A, Rowland C, Selekman R, Slovin A, Stein M, Strang J, Sable C. Home direct-to-consumer telehealth solutions for children with mental health disorders and the impact of Covid-19. Clinical child psychology and psychiatry. 2022; 27(1): 244-58.

Delivery of mental health treatment in the home can close gaps in care. Telehealth also provides access to healthcare that has been disrupted due to the COVID-19 pandemic. In 2016, a home direct-to-consumer telehealth program was initiated. Mental health encounters made up a significant portion of all telehealth encounters and COVID-19 had a significant impact on accelerating the utilization of telehealth. Telemental health has been more successful at meeting targeted volumes than the overall health system. Of all the mental health diagnoses before and during COVID-19, attention deficit hyperactivity disorder, Autism Spectrum Disorder, and Anxiety Disorder were most common. The direct-to-consumer telehealth program saved patients a significant amount of travel miles and associated time, based on data from the period before COVID-19. Payment reimbursement for direct-to-consumer telehealth professional services was similar to reimbursement for in-person visits. This program demonstrates direct-to-consumer telehealth is a feasible and acceptable care modality for a variety of youth mental health disorders.

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11. Ohsawa S, Yoshimoto H, Ohsawa R, Takahashi S, Yokoya S. Challenges in the Management of Home-Based Care Experienced by a Caregiver with Autism Spectrum Disorder. Palliative medicine reports. 2021; 2(1): 324-7.

We describe the case of a 37-year-old woman with autism spectrum disorder (ASD) who lived with a mother with end-stage breast cancer and a visually impaired father. She was the main caregiver for her mother, who was receiving home-based palliative care. The caregiver needed training on communication and task management so that she could manage the communication with home care staff and perform more house chores. It was also necessary to share information with home care staff about ASD and how to treat her with understanding and respect. Although most support for people with ASD focuses on schools and workplaces, to offer successful end-of-life care at home, medical and home staff need to understand and communicate well with people with ASD and provide multiple types of support. Research, guidebooks, and visuals about main caregivers who have ASD and improving the inclusivity among staff members are necessary for providing successful home care and meeting caregivers’ and patients’ needs and expectations.

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12. Ongono JS, Michelon C, Béranger R, Cadot E, Simoncic V, Loubersac J, Mortamais M, Baghdadli A. Association between residential proximity to agricultural crops and adaptive behaviors in children with autism spectrum disorder from the French ELENA cohort. Journal of psychiatric research. 2021; 145: 197-204.

Influences of pesticide exposures on the clinical expression of children with ASD not known. The aim of this study was to analyze the associations between early residential proximity to agricultural crops, proxy of exposure to pesticides, and adaptive behaviors in children with ASD. Children with ASD were recruited within the Etude Longitudinale de l’Enfant avec Autisme (ELENA) French cohort. Adaptive behaviors were assessed with the second edition of the Vineland Adaptive Behavior Scales (VABS-II). Baseline subscores in communication, daily living skills and socialization were considered. Residential exposure to agricultural crops was estimated by crops acreage within a 1000m radius around homes. We ran multiple linear regression models to investigate the associations between exposures to agricultural crops during the pregnancy (n = 183), the first two years of life (n = 193) and adaptive behaviors in children with ASD. The mean (SD) age of children at the inclusion in the ELENA cohort was 6.1 (3.5) years, 39% of them presented an intellectual disability (ID). The mean communication score was 73.0 (15.8). On average, the crop acreage covered 29(27)% of the acreage formed by the 1000m radius around homes. Each increase of 20% in the crop acreage was associated with a significant decrease in communication score of the VABS-II in children without ID for the pregnancy (β = -2.21, 95%CI: 4.16 to -0.27) and the first two years of life (β = -1.90, 95%CI: 3.68 to -0.11) periods. No association was found in children with ID. This study opens perspectives for future works to better understand ASD phenotypes.

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13. Poyraz Fındık OT, Gümüştaş F. Melatonin for Restrictive Repetitive Behaviours in a Young Adult with Autism: A Case Report. Psychiatria Danubina. 2021; 33(4): 580-2.

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14. Ranjan R, Nath S, Jain M, Kumar P. Autism Spectrum Disorder in a Child with Tuberous Sclerosis: Where Is the Neurobiological Link?. Psychiatria Danubina. 2021; 33(4): 571-3.

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15. Schwartzer JJ, Garcia-Arocena D, Jamal A, Izadi A, Willemsen R, Berman RF. Allopregnanolone Improves Locomotor Activity and Arousal in the Aged CGG Knock-in Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome. Frontiers in neuroscience. 2021; 15: 752973.

Carriers of the fragile X premutation (PM) can develop a variety of early neurological symptoms, including depression, anxiety and cognitive impairment as well as being at risk for developing the late-onset fragile X-associated tremor/ataxia syndrome (FXTAS). The absence of effective treatments for FXTAS underscores the importance of developing efficacious therapies to reduce the neurological symptoms in elderly PM carriers and FXTAS patients. A recent preliminary study reported that weekly infusions of Allopregnanolone (Allop) may improve deficits in executive function, learning and memory in FXTAS patients. Based on this study we examined whether Allop would improve neurological function in the aged CGG knock-in (CGG KI) dutch mouse, B6.129P2(Cg)-Fmr1(tm2Cgr)/Cgr, that models much of the symptomatology in PM carriers and FXTAS patients. Wild type and CGG KI mice received 10 weekly injections of Allop (10 mg/kg, s.c.), followed by a battery of behavioral tests of motor function, anxiety, and repetitive behavior, and 5-bromo-2′-deoxyuridine (BrdU) labeling to examine adult neurogenesis. The results provided evidence that Allop in CGG KI mice normalized motor performance and reduced thigmotaxis in the open field, normalized repetitive digging behavior in the marble burying test, but did not appear to increase adult neurogenesis in the hippocampus. Considered together, these results support further examination of Allop as a therapeutic strategy in patients with FXTAS.

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16. Wang K, Li K, Niu X. Altered Functional Connectivity in a Triple-Network Model in Autism With Co-occurring Attention Deficit Hyperactivity Disorder. Frontiers in psychiatry. 2021; 12: 736755.

Purpose: This study aimed to explore alterations in functional connectivity (FC) within and between default mode network (DMN), central executive network, and salience network in autism spectrum disorder (ASD) with co-occurring attention deficit hyperactivity disorder (ADHD). Method: A total of 135 individuals’ date of the Autism Brain Imaging Data Exchange II was used to compare the ASD+ADHD group with the ASD group in relation to the abnormal within-network and between-network connectivity of the ASD group relative to the TD group; consequently, the correlation analysis between abnormal FC and behavior was performed. Results: The ASD+ADHD group exhibited decreased within-network connectivity in the precuneus of the ventral DMN compared with the ASD group. Among the three groups, the ASD+ADHD group showed lower connectivity, whereas the ASD group had higher connectivity than the TD group, although the effect of the separate post hoc test was not significant. Meanwhile, the ASD+ADHD group showed increased between-network connectivity between the ventral DMN and dorsal DMN and between the ventral DMN and left executive control network, compared with the ASD and TD groups. Conclusion: Dysfunction of DMN in the « triple-network model » is the core evidence for ASD with co-occurring ADHD.

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17. Yu X, Rahman MM, Wang Z, Carter SA, Schwartz J, Chen Z, Eckel SP, Hackman D, Chen JC, Xiang AH, McConnell R. Evidence of susceptibility to autism risks associated with early life ambient air pollution: A systematic review. Environmental research. 2022; 208: 112590.

BACKGROUND: Many studies have found associations between early life air pollution exposure and subsequent onset of autism spectrum disorder (ASD). However, characteristics that affect susceptibility remain unclear. OBJECTIVE: This systematic review examined epidemiologic studies on the modifying roles of social, child, genetic and maternal characteristics in associations between prenatal and early postnatal air pollution exposure and ASD. METHODS: A systematic literature search in PubMed and Embase was conducted. Studies that examined modifiers of the association between air pollution and ASD were included. RESULTS: A total of 19 publications examined modifiers of the associations between early life air pollution exposures and ASD. In general, estimates of effects on risk of ASD in boys were larger than in girls (based on 11 studies). Results from studies of effects of family education (2 studies) and neighborhood deprivation (2 studies) on air pollution-ASD associations were inconsistent. Limited data (1 study) suggest pregnant women with insufficient folic acid intake might be more susceptible to ambient particulate matter less than 2.5 μm (PM(2.5)) and 10 μm (PM(10)) in aerodynamic diameter, and to nitrogen dioxide (NO(2)). Children of mothers with gestational diabetes had increased risk of ozone-associated ASD (1 study). Two genetic studies reported that copy number variations may amplify the effect of ozone, and MET rs1858830 CC genotype may augment effects of PM and near-roadway pollutants on ASD. CONCLUSIONS: Child’s sex, maternal nutrition or diabetes, socioeconomic factors, and child risk genotypes were reported to modify the effect of early-life air pollutants on ASD risk in the epidemiologic literature. However, the sparsity of studies on comparable modifying hypotheses precludes conclusive findings. Further research is needed to identify susceptible populations and potential targets for preventive intervention.

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18. Zhang X, Mei D, Li Y, You M, Wang D, Yao D, Xu Y, Zhai L, Wang Y. Arsenic exposure via drinking water during pregnancy and lactation induces autism-like behaviors in male offspring mice. Chemosphere. 2022; 290: 133338.

Exposure to arsenic (As), an environmental toxicant, causes damages to the central nervous system (CNS) structure and function. Emerging epidemiological studies support that exposure to As, especially during the critical periods of the CNS development, may act as an environmental risk factor of autism spectrum disorders (ASD), which is characterized by behavioral changes, including abnormal social behaviors, restricted interests and repetitive behaviors. However, direct evidence supporting the cause-effect relationship between As exposure and the risk of ASD is still missing. Thus, we aimed to investigate whether As exposure during pregnancy and lactation led to autism-like behaviors in offspring mice in the present study. We established a mice model of exposure to As via drinking water during pregnancy and lactation and conducted a battery of behavioral tests to evaluate social behaviors, repetitive behaviors, anxiety behaviors and learning and memory ability in offspring mice. We found that perinatal exposure to As caused autism-like behaviors in male offspring, which demonstrated by abnormal social behaviors and repetitive behaviors. Anxiety-like behaviors, and learning and memory impairments, known as concomitant behavioral phenotypes in mice with autism-like behaviors, were also observed. Decreases of synaptic density, especially in cortex, hippocampus and cerebellum, are extensively observed in both ASD patients and animal models of ASD. Thus, immunofluorescence staining and western blotting were used to observe the expression of PSD-95 and SYP, well-known markers for presynaptic and postsynaptic membranes, to assess the synaptic density in offspring cortex, hippocampus and cerebellum. We found perinatal exposure to As decreased the expression of PSD-95 and SYP in these brain regions. This indicated that perinatal exposure to As caused decreases of synaptic density, a typical autism-like cellular alteration in brains, which may contribute to autism-like behaviors in offspring.

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