1. Erratum: Caring for Individuals With Intellectual and Developmental Disabilities in the COVID-19 Crisis. Neurology Clinical practice. 2021; 11(6): 981.

[This corrects the article DOI: 10.1212/CPJ.0000000000000886.].

Lien vers le texte intégral (Open Access ou abonnement)

2. Alain G, Gilmore D, Krantz M, Hanks C, Coury DL, Moffatt-Bruce S, Garvin JH, Hand BN. Expenditures and Healthcare Utilization of Patients Receiving Care at a Specialized Primary Care Clinic Designed with and for Autistic Adults. Journal of general internal medicine. 2022.

BACKGROUND: We previously found that autistic adults who received care through a primary care embedded specialized clinic, called the Center for Autism Services and Transition (CAST), had higher satisfaction, continuity of care, and preventive care use than national samples of autistic adults. OBJECTIVE: Examine the impact of CAST on healthcare utilization and expenditures. DESIGN: Retrospective study of medical billing data. SAMPLE: CAST patients (N = 490) were propensity score matched to Medicare-enrolled autistic adults (N = 980) and privately insured autistic adults (N = 980) using demographic characteristics. The median age of subjects was 21 years, 79% were male, and the median duration of observation was 2.2 years. MAIN MEASURES: We quantified expenditures and utilization for primary care; emergency department (ED) visits; inpatient hospitalizations; mental health admissions; and outpatient visits. KEY RESULTS: CAST patients had the highest primary care utilization and expenditures. However, CAST patients had significantly lower expenditures than Medicare-enrolled autistic adults for mental health admissions ($1074 vs $1903), outpatient visits ($1671 vs $2979), and total expenditures ($5893 vs $6987), as well as 57% fewer inpatient hospitalizations. Compared to privately insured autistic adults, CAST patients had significantly lower expenditures for mental health admissions ($1074 vs $1362), inpatient hospitalizations ($3851 vs $4513), and outpatient visits ($1671 vs $6070), as well as 16% fewer inpatient hospitalizations, 24% fewer ED visits, and 50% fewer outpatient visits. On average, CAST patients had more ED visits, mental health admissions, and outpatient visits than Medicare-enrolled autistic adults and more mental health admissions than privately insured autistic adults. CONCLUSIONS: Although CAST patients had greater primary care utilization and expenditures, our findings suggest embedding specialized clinics within broader primary care settings could be an alternative to current standards of care and may reduce expenditures and healthcare utilization in other areas, particularly relative to standard care for privately insured autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

3. Almeida T. [Autism Spectrum Disorder: The Link Between Primary and Secondary Health Care]. Acta medica portuguesa. 2021; 34(12): 884.

Lien vers le texte intégral (Open Access ou abonnement)

4. Amestoy A, Guillaud E, Bucchioni G, Zalla T, Umbricht D, Chatham C, Murtagh L, Houenou J, Delorme R, Moal ML, Leboyer M, Bouvard M, Cazalets JR. Correction to: Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (InFoR). Molecular autism. 2022; 13(1): 4.

Lien vers le texte intégral (Open Access ou abonnement)

5. Becevic M, Nair P, Wallach E, Hoffman K, Sohl K. ECHO Autism: Evaluation of Participants’ Perceptions of Collaborative Telementoring Network. Journal of patient experience. 2021; 8: 23743735211065292.

Introduction: Primary care clinicians report inadequate training and lack of support regarding identification of early signs of Autism Spectrum Disorder (ASD), resulting in later diagnosis and poor outcomes. The objective of this study was to evaluate the perception of participants in ECHO Autism project regarding the value of the virtual collaborative as a mentoring tool. Methods: We completed a retrospective cross-sectional study of post-virtual clinic surveys of all participants who attended Autism ECHO from September 2, 2015 to June 5, 2019. Results: There were 87 Autism ECHO sessions held, with 83 didactic presentations. A total of 92 de-identified patient cases were discussed with 490 unique learners in attendance. Participants reported increase in self-efficacy in identifying ASD symptoms in children, assessing medical comorbidities, and learning new information. Discussion: Continuing education platforms in healthcare professions are increasingly embracing virtual live-interactive conferences. They provide opportunities to connect with experts, but also hear from peers regarding real-life case examples. During COVID-19 pandemic ECHO Autism was a lifeline for rural providers and will likely continue to increase in participation.

Lien vers le texte intégral (Open Access ou abonnement)

6. Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Paşca AM, Geschwind DH, Paşca SP. Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome. Cell stem cell. 2022; 29(2): 248-64.e7.

Defects in interneuron migration can disrupt the assembly of cortical circuits and lead to neuropsychiatric disease. Using forebrain assembloids derived by integration of cortical and ventral forebrain organoids, we have previously discovered a cortical interneuron migration defect in Timothy syndrome (TS), a severe neurodevelopmental disease caused by a mutation in the L-type calcium channel (LTCC) Ca(v)1.2. Here, we find that acute pharmacological modulation of Ca(v)1.2 can regulate the saltation length, but not the frequency, of interneuron migration in TS. Interestingly, the defect in saltation length is related to aberrant actomyosin and myosin light chain (MLC) phosphorylation, while the defect in saltation frequency is driven by enhanced γ-aminobutyric acid (GABA) sensitivity and can be restored by GABA-A receptor antagonism. Finally, we describe hypersynchronous hCS network activity in TS that is exacerbated by interneuron migration. Taken together, these studies reveal a complex role of LTCC function in human cortical interneuron migration and strategies to restore deficits in the context of disease.

Lien vers le texte intégral (Open Access ou abonnement)

7. Che X, Hornig M, Bresnahan M, Stoltenberg C, Magnus P, Surén P, Mjaaland S, Reichborn-Kjennerud T, Susser E, Lipkin WI. Maternal mid-gestational and child cord blood immune signatures are strongly associated with offspring risk of ASD. Molecular psychiatry. 2022.

Epidemiological studies and work in animal models indicate that immune activation may be a risk factor for autism spectrum disorders (ASDs). We measured levels of 60 cytokines and growth factors in 869 maternal mid-gestational (MMG) and 807 child cord blood (CB) plasma samples from 457 ASD (385 boys, 72 girls) and 497 control children (418 boys, 79 girls) from the Norwegian Autism Birth Cohort. We analyzed associations first using sex-stratified unadjusted and adjusted logistic regression models, and then employed machine learning strategies (LASSO + interactions, Random Forests, XGBoost classifiers) with cross-validation and randomly sampled test set evaluation to assess the utility of immune signatures as ASD biomarkers. We found prominent case-control differences in both boys and girls with alterations in a wide range of analytes in MMG and CB plasma including but not limited to IL1RA, TNFα, Serpin E1, VCAM1, VEGFD, EGF, CSF1, and CSF2. MMG findings were most striking, with particularly strong effect sizes in girls. Models did not change appreciably upon adjustment for maternal conditions, medication use, or emotional distress ratings. Findings were corroborated using machine learning approaches, with area under the receiver operating characteristic curve values in the test sets ranging from 0.771 to 0.965. Our results are consistent with gestational immunopathology in ASD, may provide insights into sex-specific differences, and have the potential to lead to biomarkers for early diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

8. Hickman RA, O’Shea SA, Mehler MF, Chung WK. Neurogenetic disorders across the lifespan: from aberrant development to degeneration. Nature reviews Neurology. 2022; 18(2): 117-24.

Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these diagnoses to inform prognosis, refine management and provide information about recurrence risk in the family. For neurogenetic conditions associated with intellectual disability and ASD, data on natural history in adults are scarce; however, as older adults with these disorders are identified, it is becoming clear that some conditions are associated with both neurodevelopmental problems and neurodegeneration. Moreover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurodegeneration also affect neurodevelopment. In this Perspective, we discuss examples of diseases that have developmental and degenerative overlap. We propose that neurogenetic disorders should be studied continually across the lifespan to understand the roles of the affected genes in brain development and maintenance, and to inform strategies for treatment.

Lien vers le texte intégral (Open Access ou abonnement)

9. Krakowski AD, Szatmari P, Crosbie J, Schachar R, Duku E, Georgiades S, Anagnostou E. Latent Structure of Combined Autistic and ADHD Symptoms in Clinical and General Population Samples: A Scoping Review. Frontiers in psychiatry. 2021; 12: 654120.

Background: Many phenotypic studies have estimated the degree of comorbidity between Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), but few have examined the latent, or unobserved, structure of combined ASD and ADHD symptoms. This is an important perquisite toward better understanding the overlap between ASD and ADHD. Methods: We conducted a scoping review of studies that examined the factor or latent class structure of ASD and ADHD symptoms within the same clinical or general population sample. Results: Eight studies met final inclusion criteria. Four factor analysis studies found that ASD and ADHD domains loaded separately and one found that some ASD and ADHD domains loaded together. In the three latent class studies, there were evidence of profiles with high levels of co-occurring ASD and ADHD symptoms. Conclusions: Our scoping review provides some evidence of phenotypic overlap between ASD and ADHD at the latent, or unobserved, level, particularly when using a « person-centered » (latent class analysis) vs. a « variable-centered » (factor analysis) approach.

Lien vers le texte intégral (Open Access ou abonnement)

10. Lafont C, Panjo H, Michelon C, Falissard B, Speranza M, Picot MC, Baghdadli A, Rouquette A. Determinants of Inclusion in Mainstream School for Children with Autism Spectrum Disorders from the EpiTED Study: A 10-Year Follow-up Cohort. Journal of autism and developmental disorders. 2022.

Inclusion of students with Autism Spectrum Disorder (ASD) in mainstream schools has a positive impact on their social and daily living behaviors. Our objective was to identify clinical and socio-demographic variables promoting or limiting inclusion in mainstream school through childhood and adolescence. The EpiTED study is a long-term, prospective, multicenter cohort of 281 ASD children included before the age of 7, with a 10-year follow-up in France. Variables significantly linked to inclusion in mainstream school were identified using a mixed-effect logistic regression model: greater autonomy [OR = 1.45 (1.29-1.63)], lesser symptom severity [OR = 0.96 (0.92-0.99)] and fewer siblings [OR = 0.86 (0.75-0.99)]. In the multivariate model, the probability for a child of being included in mainstream school decreased over time [OR = 0.91 (0.85-0.97)], i.e. with age.

Lien vers le texte intégral (Open Access ou abonnement)

11. Nalbant K, Erden S, Yazar A, Kılınç İ. Investigation of the Relation between Epithelial Barrier Function and Autism Symptom Severity in Children with Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2022; 72(4): 741-7.

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by limitations in mutual communication and social interaction as well as restricted, repetitive patterns of behaviors, interests, or activities. The possible role of biological abnormalities in the etiopathogenesis of this disorder arouses research interest in this area. This is a case-control study evaluating epithelial barrier function by comparing serum concentrations of occludin and zonulin in children with ASD (n = 60) and controls (n = 30). The Childhood Autism Rating Scale (CARS) was used to evaluate autism symptom levels in all children. Serum occludin and zonulin levels were analyzed using an enzyme-linked immunosorbent assay. Serum occludin was significantly lower in children with ASD than in control subjects. In children with ASD, a decrease in occludin level was significantly associated with the disorder symptom levels items mean score (CARS total scores). Our findings showed that children with ASD had alterations in epithelial barrier function compared to the control group. The investigation of the mechanism underlying the different levels of occludin between ASD and controls may be of importance in clarifying the etiopathogenesis of ASD, as well as its follow-up and treatment.

Lien vers le texte intégral (Open Access ou abonnement)

12. Pittet I, Kojovic N, Franchini M, Schaer M. Trajectories of imitation skills in preschoolers with autism spectrum disorders. Journal of neurodevelopmental disorders. 2022; 14(1): 2.

BACKGROUND: Imitation skills play a crucial role in social cognitive development from early childhood. Many studies have shown a deficit in imitation skills in children with autism spectrum disorders (ASD). Little is known about the development of imitation behaviors in children with ASD. This study aims to measure the trajectories of early imitation skills in preschoolers with ASD and how these skills impact other areas of early development. METHODS: For this purpose, we assessed imitation, language, and cognition skills in 177 children with ASD and 43 typically developing children (TD) aged 2 to 5 years old, 126 of which were followed longitudinally, yielding a total of 396 time points. RESULTS: Our results confirmed the presence of an early imitation deficit in toddlers with ASD compared to TD children. The study of the trajectories showed that these difficulties were marked at the age of 2 years and gradually decreased until the age of 5 years old. Imitation skills were strongly linked with cognitive and language skills and level of symptoms in our ASD group at baseline. Moreover, the imitation skills at baseline were predictive of the language gains a year later in our ASD group. Using a data-driven clustering method, we delineated different developmental trajectories of imitation skills within the ASD group. CONCLUSIONS: The clinical implications of the findings are discussed, particularly the impact of an early imitation deficit on other areas of competence of the young child.

Lien vers le texte intégral (Open Access ou abonnement)

13. Smyth S, Mc Laughlin N, Egan C, Gurrin C, Quinn K, McGarrell M, Devlin S. Study protocol for autism specific transition resources (T-Res Study): developing a flexible resource package for dealing with the loosening and/or lifting of COVID-19 related restrictions. HRB open research. 2021; 4: 12.

Autism specific transition resources (T-Res) aims to develop a flexible resource package to support children and young people with a diagnosis of autism spectrum disorder (ASD), as well as their families and educators, during the loosening and/or lifting of coronavirus disease 2019 (COVID-19) related restrictions on movement. A secondary aim is to determine the current and long-term impacts of the COVID-19 related restrictions on the wellbeing of individuals with autism spectrum disorders and their parents/caregivers. Measuring and addressing the psychosocial impact of the COVID-19 pandemic and related restrictions in movement is of prime importance at this time. The impacts of this crisis will be far reaching and many may not be realised for many years. The proposed research will focus on children and young people with a diagnosis of ASD, their families and educators. The ASD population alone is sizable with 14,000 (or 1.55%) of students in schools holding a diagnosis. When parents, teachers, tutors and special needs assistants (SNAs) are also considered this is a considerable group. The proposed research has the potential to have impacts that are social, psychological, educational and economic. This will be achieved through development of an online transition package to guide parents and educators in preparing children and young people for the resumption of regular daily routines following the lifting of COVID-19 restrictions. This resource will be developed based on the needs of families and young people, as measured through surveys, as well as expert consensus on the targets and means of intervention. This ambitious project can be commenced quickly and is designed to produce outputs quickly, which will in turn be disseminated to key stakeholders.

Lien vers le texte intégral (Open Access ou abonnement)

14. Xiong T, McGrath PJ, Yakovenko I, Thomson D, Kaltenbach E. Parenting-related trauma exposure among parents of children with intellectual and developmental disorders: Development and validation of the Parenting Trauma Checklist. Journal of traumatic stress. 2022; 35(2): 759-70.

Parents of children with intellectual and developmental disorders (IDDs) often encounter parenting-related traumatic events. Trauma exposure is a risk factor for mental health problems, including posttraumatic stress disorder (PTSD). Little is known regarding the types of traumatic events that parents commonly experience and how to best assess parenting-related trauma exposure. To address this gap, we developed the Parenting Trauma Checklist (PTC) and tested its psychometric properties. The PTC was created based on an extensive literature review and consultation with stakeholders, which led to the creation of a 17-item instrument. Participants (N = 424) were Canadian parents of children with IDDs who completed an online test battery that included the PTC and several questionnaires to assess PTSD symptoms, global mental and physical health, lifetime trauma exposure, and functional impairment, which were included to test the validity of the new instrument. The PTC demonstrated good construct validity. Ninety four percent of the sample reported parenting-related trauma exposure. Parents reported having experienced an average of 5.79 parenting-related traumatic events, with seeing their child undergo a medical procedure the most frequently endorsed event (68.6%). Experiencing more parenting-related traumatic events was positively associated with higher PTSD symptom levels, r = .35, p < .001. The PTC is a promising instrument that can be used to examine parenting-related trauma exposure. The measure can be used as a screening tool to detect parents' risk of traumatic stress disorders, evaluate traumatic experiences, and assess whether trauma-focused treatment is warranted.

Lien vers le texte intégral (Open Access ou abonnement)