1. Conway KS, Ghafoor F, Gottschalk AC, Laakman J, Eigsti RL, Nashelsky M, Blau J, Hefti MM. The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series. Journal of neuropathology and experimental neurology. 2021; 80(9): 856-60.

1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.

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2. Deste G, Vita A, Nibbio G, Barlati S, Penn DL, Pinkham AE, Harvey PD. Autistic symptoms in people with schizophrenia: Neurocognitive, socio-cognitive, clinical and real-world functional characteristics of individuals without autistic features. Schizophrenia research. 2021; 236: 12-8.

OBJECTIVE: Autism spectrum disorders (ASD) symptoms are frequent in people living with schizophrenia spectrum disorders (SSD) and have a relevant impact on their daily life. However, current literature is mostly focused on investigating correlates of high levels of ASD symptoms, leaving largely unexplored the clinical, neurocognitive, socio-cognitive and functional characterization of individuals with minimal or absent ASD symptoms, which may represent a peculiar sub-population. METHODS: A total of 361 patients (mean age 41.7 years; 117 females) included in the SCOPE study were assessed with clinical, neurocognitive, socio-cognitive, functional capacity, social skills and real-world functioning measures. The severity of ASD symptoms was assessed with the PANSS Autism Severity Scale (PAUSS): individuals with a PAUSS score < 10 were considered without significant ASD symptoms. RESULTS: Seventy-two (19.95%) participants had no significant ASD symptoms and presented a less severe clinical status, as well as a better cognitive and socio-cognitive performance and functional profile. Lower non-autistic SSD symptoms severity and better social skills, functional capacity, global cognitive and Theory of Mind/Mental State Attribution (as measured by the Hinting task) performance and real-world social relationships emerged as predictors of non-ASD symptoms status in the logistic regression analyses. CONCLUSION: Individuals without ASD symptoms represent a minority of people diagnosed with SSD that appears to be characterized by specific correlates, resulting in a less severe situation and more positive outcomes. As these factors could have a relevant impact on treatment response, assessing the severity of ASD symptoms could be an important step required to define a personalized treatment.

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3. Gómez-Marí I, Sanz-Cervera P, Tárraga-Mínguez R. Today Is My Day: Analysis of the Awareness Campaigns’ Impact on Functional Diversity in the Press, on Google, and on Twitter. International journal of environmental research and public health. 2021; 18(15).

(1) Every day, people with functional diversity face different kinds of difficulties that pose a barrier to their social inclusion. These difficulties often go unnoticed by most citizens. Social networks are a powerful tool to sensitize the population. With this objective, different organizations such as associations, federations, foundations, and other institutions have promoted campaigns through the celebration of world days for different types of functional diversity. This research aims to monitor and analyze the impact of these social campaigns in Spain, including Asperger’s syndrome, rare diseases, Down syndrome, autism, hearing and visual impairment, cerebral palsy, dyslexia, ADHD, spina bifida, disability, and dyscalculia world days, between 2015 and 2020. (2) The impact of each campaign on the press, Google, and Twitter has been analyzed using: MyNews, Google Trends, and Trendinalia. (3) The results suggest a close relationship between the impact on the number of pieces of news generated in the press, the searches on Google, and the hashtags in high positions on Twitter. (4) The campaigns with the greatest levels of success are those whose diagnoses involve greater difficulties in adaptive behavior. These results can provide some practical implications for future campaigns.

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4. Iadarola S, Siegel JF, Gao Q, McGrath K, Bonuck KA. COVID-19 vaccine perceptions in New York State’s intellectual and developmental disabilities community. Disability and health journal. 2022; 15(1): 101178.

BACKGROUND: People with intellectual and developmental disabilities (IDD) are at disproportionate risk for severe COVID-19 outcomes, particularly those living in congregate care settings. Yet, there is limited data on vaccine perceptions in the disability community. OBJECTIVE: To explore COVID-19 vaccine perceptions in individuals with IDD, their family members, and those who work with them, to inform a statewide vaccine information and messaging project. METHODS: A national survey, adapted in five languages for the IDD community, was distributed to a convenience sample of IDD organizations throughout New York State. Constructs included vaccine intention, reasons for vaccine hesitancy, and trusted sources of vaccine information. Zip code data were used to map respondent location and vaccine preferences. RESULTS: Of n = 825 respondents, approximately 75% intended to or had received the vaccine across roles (i.e., people with developmental disabilities, family members, direct care workers) and racial/ethnic groups. Greater vaccine hesitancy was reported in younger individuals and those making decisions on behalf of a person with IDD. Concerns included side effects and the swiftness of vaccine development. Black and Hispanic participants had heightened concerns about being an « experiment » for the vaccine. Trusted sources of information included healthcare providers and family members. Respondents who intended to/received the vaccine were dispersed throughout the state. CONCLUSIONS: Vaccine preferences in this New York State disability community sample align with national data. Identified concerns suggest the need for community education that addresses misperceptions. Age and race differences in perspectives highlight the need for tailored education, delivered by trusted messengers.

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5. Kalb LG, Badillo-Goicoechea E, Holingue C, Riehm KE, Thrul J, Stuart EA, Smail EJ, Law K, White-Lehman C, Fallin D. Psychological distress among caregivers raising a child with autism spectrum disorder during the COVID-19 pandemic. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2183-8.

The COVID-19 pandemic may disproportionately impact parents of children with autism spectrum disorder (ASD). Loss of services and supports, heightened fears about increased infection rates, and disruption of daily routines likely adversely affect the well-being of children with ASD and their families. The goal of this study was to examine differences in psychological distress-as defined by symptoms of anxiety, depression, loneliness, and hyperarousal-between parents raising a child with ASD and parents in the US as a whole during the early stages of the pandemic (March-April 2020). Parents raising a child with ASD (n = 3556) were recruited through SPARK, a national ASD research registry, whereas a representative sample of parents in the US (n = 5506) were recruited from the Pew Research Center’s American Trends Panel. All data were captured via online surveys. Descriptive statistics and multivariable logistic regressions examined psychological distress at the item and summary score level. Parents of children with ASD reported higher levels of overall psychological distress (48% vs. 25%; aOR = 1.60, 95% CI: 1.32, 1.84, p < 0.001). Hyperarousal, or feelings of panic when thinking about COVID-19, was particularly prevalent among parents of children with ASD compared to parents in the US (25% vs. 9%; aOR = 2.38, 95% CI: 1.83, 3.07, p < 0.001). Findings highlight the importance of considering the policies and practices that contribute to poor mental health in parents, particularly those raising a child with ASD, to ensure mental health services remain accessible. LAY SUMMARY: This study examined the mental health of parents raising a child with ASD during the early stages of the COVID-19 pandemic. Results demonstrated substantially higher levels of psychological distress, particularly those related to feelings of panic, among parents raising a child with ASD when compared to parents in the US as a whole. These data suggest the need for ensuring mental health services are accessible to parents, particularly those raising a child with ASD, during and after the pandemic.

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6. Lundström S, Taylor M, Larsson H, Lichtenstein P, Kuja-Halkola R, Gillberg C. Perceived child impairment and the ‘autism epidemic’. Journal of child psychology and psychiatry, and allied disciplines. 2022; 63(5): 591-8.

BACKGROUND: The prevalence of diagnosed Autism Spectrum Disorder (ASD) has increased substantially across the world. Much – or even most – prevalence increase seems to reflect changes in diagnostic practice and ascertainment. A key part of ASD assessment is to document that the relevant symptoms are associated with clinical impairment. The aim of the present study is to capitalize on a nationwide longitudinal study spanning 15 consecutive birth year cohorts in order to investigate whether there has been a secular change in how parents perceive the impairment and suffering conferred by autism symptomatology in their children. METHODS: Data came from the Child and Adolescent Twin Study in Sweden (27,240 individuals), where parents had reported on their child’s ASD symptoms and impairment. Impairment due to ASD symptoms was regressed on an ASD symptom score across time. This was done for five 3-year birth cohorts (1995-1997, 1998-2000, 2001-2003, 2004-2006, and 2007-2009). RESULTS: Reported impairment increased with consecutively later birth cohorts. This was evident across all levels of autism symptomatology. At clinically relevant levels of symptomatology, parents of those born 2007-2009 reported a 23% higher degree of impairment as compared with parents of those born in 1995-1997. The relative difference, however, was even greater at levels that previously would have been considered below the diagnostic threshold. DISCUSSION: The results presented here contribute to the notion of a growing diffuseness in the conceptualization of the ASD diagnosis by adding the element of secular changes in the parental perception of the consequences of ASD symptom expression.

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7. Mehta R, Bhandari R, Kuhad A. Exploring nordihydroguaretic acid (NDGA) as a plausible neurotherapeutic in the experimental paradigm of autism spectrum disorders targeting nitric oxide pathway. Metabolic brain disease. 2021; 36(7): 1833-57.

The present study investigates the neuro-protective ability of nordihydroguaretic acid (NDGA) in the experimental paradigm of autism spectrum disorders (ASD) and further decipher the nitric oxide pathway’s role in its proposed action. An intracerebroventricular infusion of 4 μl of 1 M PPA was given in the lateral ventricle’s anterior region to induce autism-like phenotype in male rats. Oral administration of NDGA (5, 10 & 15 mg/kg) was initiated from the 3(rd) day lasting till the 28th day. L-NAME (50 mg/kg) and L-Arginine (800 mg/kg) were also given individually and combined to explore NDGA’s ability to act via the nitric oxide pathway. Behavior tests for sociability, stereotypy, anxiety, depression, novelty, repetitive and perseverative behavior were carried out between the 14th and 28th day. On the 29th day, animals were sacrificed, and mitochondrial complexes and oxidative stress parameters were evaluated. We also estimated the levels of neuroinflammatory and apoptotic markers such as TNF-α, IL-6, NF-κB, IFN-γ, HSP-70, and caspase-3. To assess the involvement of the nitric oxide pathway, levels of iNOS and homocysteine were estimated. Treatment with NDGA significantly restored behavioral, biochemical, neurological, and molecular deficits. Hence, NDGA can be used as a neurotherapeutic agent in ASD. Targeting nitric oxide pathway mediated oxidative & nitrosative stress responsible for behavioral, biochemical, and molecular alterations via modulating nitric oxide pathway. The evaluation of iNOS and homocysteine levels conclusively establishes the nitric oxide pathway’s role in causing behavioral, biochemical & molecular deficits and NDGA’s beneficial effect in restoring these alterations.

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8. Pellicano E, Brett S, den Houting J, Heyworth M, Magiati I, Steward R, Urbanowicz A, Stears M. COVID-19, social isolation and the mental health of autistic people and their families: A qualitative study. Autism : the international journal of research and practice. 2022; 26(4): 914-27.

In this study, we show that autistic people and their families have found it very difficult to deal with the lockdowns during the COVID-19 pandemic. Autistic and non-autistic researchers spoke to 144 people, including 44 autistic adults, 84 parents of autistic children and 16 autistic young people (12-18 years old). We asked them about their everyday lives and mental health during lockdown. People told us that they enjoyed having fewer obligations and demands compared to pre-COVID-19 life. They felt that life was quieter and calmer. But people also told us again and again how much they missed meeting people in real life, especially their friends, and their therapists and support workers. People told us that their mental health suffered because they did not have contact with their friends and services. Importantly, many people (including researchers) think that autistic people do not want friends or to be around people. But our results show that is not true. Many autistic people do want friends and to be around other people. Some people’s mental health has been damaged by not being able to see people during COVID-19. Autistic people need support in many areas of life so they can keep socialising and seeing their friends even through difficult times, like pandemics.

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9. Salomone E, Ferrante C, Salandin A, Ferrara F, Torchio E, Foletti G, Ghersi S, Pacione L, Servili C. Acceptability and feasibility of the World Health Organization’s Caregiver Skills Training implemented in the Italian National Health System. Autism : the international journal of research and practice. 2022; 26(4): 859-74.

Across the globe, children with neurodevelopmental disorders, including autism, have limited access to care through public services. To improve access to care the World Health Organization developed a novel, open-access programme: the Caregiver Skills Training programme. The Caregiver Skills Training consists of nine group sessions and three individual home visits, focused on training the caregiver on how to use everyday play and home routines as opportunities for learning and development. We implemented Caregiver Skills Training in public child neuropsychiatry services in Italy and examined with questionnaires and focus groups how feasible it was to deliver the programme in public health settings and how acceptable and relevant it was for caregiver users. We found that the Caregiver Skills Training was largely considered acceptable and relevant for families and feasible to deliver. We discuss potential solutions to address the specific implementation challenges that were identified, such as strategies to improve training of interventionists and overcome barriers to caregiver participation.

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10. Senkal E, Bagcioglu E, Eryigit U, Erbas O, Solmaz V. Exposure to hypertonic solutions during pregnancy induces autism-like behaviors via the NFAT-5 pathway in offspring in a rat model. Physiology & behavior. 2021; 240: 113545.

OBJECTIVES: to investigate the effects of hyperosmolar state (HS) on immune response and inflammation via the NFAT5 pathway and examine whether immune-mediated conditions trigger autism-like behavior in offspring. METHODS: a pregnant rat model was performed by administering hyperosmotic solutions. Pregnant rats were divided into 2 main groups; control (group I) and hyperosmolar groups (group II). Control group rats were given % 0.25 NaCI (tap water) (n = 6), the Hyperosmolar (HO) group was further subdivided into 3 groups as; Group II a rats which were given % 3 hypertonic NaCl (n = 6), Group II b rats were given mineral water (% 3 NaHCO3+magnesium+calcium content) (n = 6), and Group II c rats were given Ayran (% 0.8 NaCl content) (n = 6). Their offspring were examined for behaviors, biochemical and histological abnormality. RESULTS: in offspring, TNF- α, IL-17, NFAT-5, and NGF levels in the brain were significantly higher in hyperosmotic solution groups than in control rats. Exposure of pregnant rats to hyperosmotic solution resulted in autism-like behaviors in their offspring. Through immunohistochemical methods, we found that CA1 and CA2 of the hippocampus indicated decreased number of neurons in hyperosmotic solution groups compared with the control group. CONCLUSIONS: our findings once again emphasized that the immune-mediated conditions involved in the pathophysiology of autism. NFAT5 pathway may be a key factor in the development of neuroinflammation by hyperosmotic solutions.

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11. Suarez-Balcazar Y, Mirza M, Errisuriz VL, Zeng W, Brown JP, Vanegas S, Heydarian N, Parra-Medina D, Morales P, Torres H, Magaña S. Impact of COVID-19 on the Mental Health and Well-Being of Latinx Caregivers of Children with Intellectual and Developmental Disabilities. International journal of environmental research and public health. 2021; 18(15).

The COVID-19 pandemic has impacted the entire world in unprecedented ways. However, populations that have had a history of marginalization have experienced a more profound impact. One such group is Latinx families of children with intellectual and developmental disabilities (IDD) in the Unites States. In this study, we used a mixed methods approach to explore the impact of the pandemic on the mental health and well-being of Latinx caregivers of children with IDD. Specifically, we (1) identified which social determinants of health are correlated with maternal caregivers perceived general health, mental health, and well-being; (2) explored the impact of the pandemic on families’ overall eating and physical activity routines; and (3) identified emergent themes from caregivers’ experiences during the pandemic. Thirty-seven Latinx caregivers participated in three interviews in which several validated instruments were administered. The results indicated that perceived social support, annual family income, food security, and receipt of financial benefits were correlated with fewer depressive symptoms. Annual family income was also significantly correlated with perceived general health. Most caregivers reported that the pandemic had placed a strain on their economic situation; increased their isolation; and disrupted their child’s therapeutic supports, online education, eating routines, and engagement in physical activity. Meanwhile, some caregivers reported positive changes as a result of the pandemic. Implications for future research and practice are discussed.

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12. Trakadis Y, Accogli A, Qi B, Bloom D, Joober R, Levy E, Tabbane K. Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic. Neurogenetics. 2021; 22(4): 313-22.

Intellectual disability (ID) encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders that may present with psychiatric illness in up to 40% of cases. Despite the evidence for clinical utility of genetic panels in pediatrics, there are no published studies in adolescents/adults with ID or autism spectrum disorder (ASD). This study was approved by our institutional research ethics board. We retrospectively reviewed the medical charts of all patients evaluated between January 2017 and December 2019 in our adult neuropsychiatric genetics clinic at the McGill University Health Centre (MUHC), who had undergone a comprehensive ID/ASD gene panel. Thirty-four patients aged > 16 years, affected by ID/ASD and/or other neuropsychiatric/behavioral disorders, were identified. Pathogenic or likely pathogenic variants were identified in one-third of our cohort (32%): 8 single-nucleotide variants in 8 genes (CASK, SHANK3, IQSEC2, CHD2, ZBTB20, TREX1, SON, and TUBB2A) and 3 copy number variants (17p13.3, 16p13.12p13.11, and 9p24.3p24.1). The presence of psychiatric/behavioral disorders, regardless of the co-occurrence of ID, and, at a borderline level, the presence of ID alone were associated with positive genetic findings (p = 0.024 and p = 0.054, respectively). Moreover, seizures were associated with positive genetic results (p = 0.024). One-third of individuals presenting with psychiatric illness who met our red flags for Mendelian diseases have pathogenic or likely pathogenic variants which can be identified using a comprehensive ID/ASD gene panel (~ 2500 genes) performed on an exome backbone.

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13. Williams ME, Stein Duker LI, Vigen CLP, Wylde C, Cermak SA. Brief Report: Caregiver Confidence in Reporting Anxiety Symptoms in Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Assessment of anxiety in children with autism spectrum disorder (ASD) most commonly includes parent questionnaires. However, due to the nature of the questions and verbal limitations often present in children with ASD, caregivers may have difficulty completing such measures. Caregivers of 144 children with ASD ages 6 to 12 completed the Child and Adolescent Symptom Inventory-4 ASD Anxiety Scale and rated their level of confidence in responding to each item. Results indicated that parents had a moderate to high level of confidence in rating their children’s anxiety symptoms. Parent confidence was not influenced by their child’s age, expressive language ability, or intellectual functioning, but was related to their child’s anxiety symptom count and ASD severity.

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14. Yule AM, DiSalvo M, Biederman J, Wilens TE, Dallenbach NT, Taubin D, Joshi G. Decreased risk for substance use disorders in individuals with high-functioning autism spectrum disorder. European child & adolescent psychiatry. 2021.

The objective of this study was to evaluate the risk for developing a substance use disorder (SUD, alcohol or drug abuse or dependence) in individuals with high-functioning autism spectrum disorder (ASD). Subjects with high-functioning ASD were derived from consecutive referrals to a specialized ambulatory program for ASD at a major academic center from 2007 to 2016. Age-matched controls and attention-deficit hyperactivity disorder (ADHD) comparison subjects were derived from three independent studies of children and adults with and without ADHD using identical assessment methodology. Cox proportional hazard models were used to analyze the prevalence of SUD (alcohol or drug use disorder). Age of onset of SUD was analyzed with linear regression models. Our sample included 230 controls, 219 subjects with ADHD, and 230 subjects with ASD. The mean age for the ASD subjects was 20.0 ± 10.3 years. Among ASD subjects, 69% had a lifetime prevalence of ADHD, and the ASD subjects had significantly higher rates of other psychiatric psychopathology compared to ADHD and control subjects (p < 0.001) ASD subjects were at significantly decreased risk for developing a SUD compared to ADHD (hazard ratio (HR) = 0.22, p < 0.001) and control subjects (HR = 0.62, p = 0.04). The age of onset of a SUD was significantly older in ASD subjects, mean age 21.7 years, when compared to ADHD and control subjects (both p < 0.005). Individuals with ASD are at decreased risk to develop a SUD, and when they do, the onset is significantly later than ADHD and controls.

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