1. Arun Rao AC, Goel H. {{Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability}}. {European journal of medical genetics}. 2020: 104092.
The Nuclear Factor I (NFI) transcription family (NFIA, NFIB and NFIX) have been implicated in a range of developmental pathologies, including corpus callosum, craniofacial, urinary tract abnormalities, as well in the development of a number of neurodevelopmental developmental phenotypes including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioural abnormalities. NFIB haploinsufficiency has only recently been presented as a cause for macrocephaly-intellectual disability syndrome, with comparable phenotypes to NFIA related disorder. We add another patient with a previously reported nonsense variant in the NFIB who has Autism Spectrum Disorder level 2, agenesis of the corpus callosum, ADHD, obsessive compulsive Disorder and an intellectual disability. A clinical exome analysis identified a nonsense variant, c.265C>T, p.(Arg89*) involving exon 2 of NFIB (ClinVar variation ID: 424344). A brain MRI demonstrated agenesis of the corpus callosum.
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2. Chen JY, Strodl E, Huang LH, Chen YJ, Yang GY, Chen WQ. {{Early Electronic Screen Exposure and Autistic-Like Behaviors among Preschoolers: The Mediating Role of Caregiver-Child Interaction, Sleep Duration and Outdoor Activities}}. {Children (Basel, Switzerland)}. 2020; 7(11).
Research into early screen exposure has raised growing concerns about its impact upon children’s neuropsychological well-being. However, possible pathways remain unclear. This study therefore aimed not only to evaluate the association between screen exposure during the ages of 0-3 years and preschoolers’ autistic-like behaviors, but also the mediating roles of the frequency of caregiver-child interaction, sleep duration and level of participation in outdoor activities. Based on the 2017 survey of the Longhua Child Cohort Study, data of 29,595 child-caregiver dyads were obtained via a caregiver-reported questionnaire, with the data from 29,461 dyads included in the data analysis. Multiple linear and logistic regression models were employed to estimate the associations between screen exposure, caregiver-child interaction, sleep duration, outdoor activities, and children’s autistic-like behaviors. The results indicated that screen exposure during 0-3 years of age was associated with the presence of autistic-like behaviors at preschool age, and the strength of the association was enhanced with the increase of average daily screen time (Odds Ratios (ORs) ranging from 1.358 to 4.026). The frequency of caregiver-child interaction and sleep duration mediated 5.32% and 1.19% of the variance of the association respectively, but outdoor activities did not mediate the association. Our findings indicate that preschoolers who are exposed to screens at aged 0-3 years might have an increased risk of autistic-like behaviors, and that, the frequency of caregiver-child interaction and sleep duration might function as potential mediators of this association.
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3. Crawley D, Zhang L, Jones EJH, Ahmad J, Oakley B, San José Cáceres A, Charman T, Buitelaar JK, Murphy DGM, Chatham C, den Ouden H, Loth E. {{Modeling flexible behavior in childhood to adulthood shows age-dependent learning mechanisms and less optimal learning in autism in each age group}}. {PLoS biology}. 2020; 18(10): e3000908.
Flexible behavior is critical for everyday decision-making and has been implicated in restricted, repetitive behaviors (RRB) in autism spectrum disorder (ASD). However, how flexible behavior changes developmentally in ASD remains largely unknown. Here, we used a developmental approach and examined flexible behavior on a probabilistic reversal learning task in 572 children, adolescents, and adults (ASD N = 321; typical development [TD] N = 251). Using computational modeling, we quantified latent variables that index mechanisms underlying perseveration and feedback sensitivity. We then assessed these variables in relation to diagnosis, developmental stage, core autism symptomatology, and associated psychiatric symptoms. Autistic individuals showed on average more perseveration and less feedback sensitivity than TD individuals, and, across cases and controls, older age groups showed more feedback sensitivity than younger age groups. Computational modeling revealed that dominant learning mechanisms underpinning flexible behavior differed across developmental stages and reduced flexible behavior in ASD was driven by less optimal learning on average within each age group. In autistic children, perseverative errors were positively related to anxiety symptoms, and in autistic adults, perseveration (indexed by both task errors and model parameter estimates) was positively related to RRB. These findings provide novel insights into reduced flexible behavior in relation to clinical symptoms in ASD.
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4. Fombonne E, Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O’Roak BJ. {{Autism questionnaire scores do not only rise because of autism}}. {Dev Med Child Neurol}. 2020.
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5. Fong V, Gardiner E, Iarocci G. {{Satisfaction with informal supports predicts resilience in families of children with autism spectrum disorder}}. {Autism}. 2020: 1362361320962677.
The study of resilience among individuals with disabilities and their families represents a paradigmatic shift from a deficits orientation towards a more holistic and contextualized approach focused on strength and adaptation. The current study investigated whether informal supports could help improve families’ capacity for resilience. We recruited 153 caregivers of children aged between 2 and 18 years who all had a diagnosis of autism. Participants were asked to complete surveys assessing resilience in their families as well as their satisfaction with informal supports (e.g. friends and family). Families more likely to report higher satisfaction with their informal support networks demonstrate greater resilience. The results suggest that informal social supports are a valuable resource for families in strengthening their capacity for resilience. The findings may help inform the development of interventions and services that work collaboratively and innovatively with families and their social networks to provide assistance and support in meaningful and effective ways.
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6. Galvin J, Howes A, McCarthy B, Richards G. {{Self-compassion as a mediator of the association between autistic traits and depressive/anxious symptomatology}}. {Autism}. 2020: 1362361320966853.
In this study, we asked 164 undergraduate students to complete an online questionnaire. The questionnaire measured the students’ levels of autistic traits, self-compassion, and experience of anxiety and depression. We were interested in knowing if self-compassion (defined as the extension of kindness to oneself when faced with challenges) had any influence on the relationship between autistic traits and experiences of anxiety and depression. The results of the study indicated that self-compassion may be an important factor influencing the relationship between autistic traits and mental health, with higher levels of self-compassion being related to more positive mental health outcomes. Although the findings should be considered preliminary in nature, they do suggest that self-compassion could potentially be a target for clinical intervention in people with elevated autistic traits and experience anxiety and/or depression.
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7. Kiss EA, Redlo JM. {{Meeting the need: Creation of an online infection prevention course by the Golisano Institute for Developmental Disability Nursing for direct support professionals during COVID-19}}. {Journal of intellectual disabilities : JOID}. 2020: 1744629520962617.
The Center for Disease Control (CDC) recommended that direct support professionals (DSPs) take additional steps to protect people with disabilities during COVID-19 and receive training on the use of personal protective equipment and infection prevention. The Golisano Institute for Developmental Disability Nursing identified this as an unmet need and created an online asynchronous course for DSPs on infection prevention and use of personal protective equipment to reduce transmission of COVID-19 among individuals with disabilities and DSPs. Constructivism, experiential learning theory, and active learning theory guided content development. The course used games to break-up dense information into more manageable chunks as a means to increase learner engagement and motivation. The course was delivered on a dynamic Learning Management System to allow for a variety of content authoring tools to be utilized. After evaluation, the course was disseminated to DSPs. Future directions include a broader infection protection course for DSPs, without a direct focus on COVID-19.
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8. Li C, Vandersluis S, Holubowich C, Ungar WJ, Goh ES, Boycott KM, Sikich N, Dhalla I, Ng V. {{Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies}}. {Genet Med}. 2020.
PURPOSE: Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada. METHODS: A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes. RESULTS: If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied. CONCLUSION: ES would likely be cost-saving if used earlier in the diagnostic pathway.
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9. Liddle M, Sonnentag TL. {{Effectiveness of Adaptive Care Plans for Children with Developmental Disabilities During Outpatient Clinic Appointments}}. {J Autism Dev Disord}. 2020.
Children with developmental disabilities require more medical experiences than typically-developing children and struggle to cooperate with healthcare encounters. Adaptive care plans, delivered by child life specialists, are individualized patient-centered plans created to address the challenges that children with developmental disabilities experience. The current study evaluated if adaptive care plans affect the psychosocial outcomes of children with ASD compared to those with other developmental disabilities. One-hundred and sixty children between 3 and 18 years of age (child’s M(age) = 8.10, SD = 3.75) participated. Although children with developmental disabilities who had adaptive care plans did not generally experience less psychosocial distress; children with ASD who had adaptive care plans experienced fewer challenges with anxiety and coping compared to children with ASD who did not have adaptive care plans.
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10. McKeen DM, Zaphiratos V. {{Lack of evidence that epidural pain relief during labour causes autism spectrum disorder: a position statement of the Canadian Anesthesiologists’ Society}}. {Canadian journal of anaesthesia = Journal canadien d’anesthesie}. 2020.
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11. Moreno-De-Luca D. {{Trains and Outer Space-The Unique Worlds Within Autism}}. {Jama}. 2020; 324(16): 1591-2.
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12. Ousley CL, Raulston TJ, Gregori EV, McNaughton D, Bhana N, Mantzoros T. {{A comparison of single-case evaluation tools applied to functional communication training with augmentative and alternative communication supports for students with developmental disabilities}}. {Res Dev Disabil}. 2020; 107: 103803.
BACKGROUND: Students with developmental disabilities frequently present with both limited vocal speech and challenging behavior. Functional communication training (FCT) with augmentative and alternative communication (AAC) supports, is a commonly recommended intervention to reduce challenging behavior for these students, while also increasing appropriate communication. AIMS: Current research on this topic has not applied multiple evaluation tools, despite the recent suggestion to do so. Further, there are limited studies in the field of special education that have (a) applied multiple evaluation tools and (b) compared the results of the tools. METHOD: In the current review, we applied three evaluation tools to intervention studies examining the use of FCT with AAC supports in school-based settings to determine the current level of scientific support for this intervention. We identified 38 studies, which contained 59 single-case designs (SCDs). Next, we compared the methodological rigor and/or quality, outcome scores, and Evidence-Based Practice (EBP) ratings provided by the three evaluation tools. RESULTS AND CONCLUSION: Our results yielded inconsistent methodological rigor and/or quality, participant outcome measures, and EBP classifications between the evaluation tools. No two evaluation tools completely aligned. Limitations and future research are discussed.
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13. Park I, Gong J, Lyons GL, Hirota T, Takahashi M, Kim B, Lee SY, Kim YS, Lee J, Leventhal BL. {{Prevalence of and Factors Associated with School Bullying in Students with Autism Spectrum Disorder: A Cross-Cultural Meta-Analysis}}. {Yonsei medical journal}. 2020; 61(11): 909-22.
Through this meta-analysis, we sought to examine the prevalence of, risks for, and factors associated with bullying involvement (victimization, perpetration, perpetration-victimization) among students with autism spectrum disorder (ASD). Additionally, we attempted to examine sources of variance in the prevalence and effect sizes of bullying in students with ASD across studies. Systematic database and literature review identified 34 relevant studies (31 for Western countries, three for Eastern countries). Pooled prevalence estimates for victimization, perpetration, and perpetration-victimization in general were 67%, 29%, and 14%, respectively. The risk of victimization in students with ASD was significantly higher than that in typically developing students and students with other disabilities. Further, deficits in social interaction and communication, externalizing symptoms, internalizing symptoms, and integrated inclusive school settings were related to higher victimization, and externalizing symptoms were related to higher perpetration. Finally, moderation analyses revealed significant variations in the pooled prevalences thereof depending on culture, age, school settings, and methodological quality and in the pooled effect sizes according to publication year and methodological quality. Our results highlight needs for bullying intervention for students with ASD, especially those who are younger, are in an inclusive school setting, and have higher social difficulties and externalizing/internalizing symptoms; for intensive research of bullying experiences among students with ASD in Eastern countries; and for efforts to improve the methodological quality of such research.
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14. Peron A, Canevini MP, Ghelma F, Arancio R, Savini MN, Vignoli A. {{Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition}}. {Journal of medical genetics}. 2020.
BACKGROUND: Rett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of adult individuals with Rett syndrome is available, and mainly relies on questionnaires completed by caregivers. Here, we assess the clinical manifestations and management of adult patients with Rett syndrome and present our experience in transitioning from the paediatric to the adult clinic. METHODS: We analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in MECP2, CDKL5 and FOXG1, who were in charge of our clinic. RESULTS: Of the 50 women with classic Rett syndrome, 94% had epilepsy (26% drug-resistant), 20% showed extrapyramidal signs, 40% sleep problems and 36% behavioural disorders. Eighty-six % patients exhibited gastrointestinal problems; 70% had scoliosis and 90% low bone density. Breathing irregularities were diagnosed in 60%. None of the patients had cardiac issues. CDKL5 patients experienced fewer breathing abnormalities than women with classic Rett syndrome. CONCLUSION: The delineation of an adult phenotype in Rett syndrome demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients.
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15. Rakhimberdina Z, Liu X, Murata AT. {{Population Graph-Based Multi-Model Ensemble Method for Diagnosing Autism Spectrum Disorder}}. {Sensors (Basel, Switzerland)}. 2020; 20(21).
With the advancement of brain imaging techniques and a variety of machine learning methods, significant progress has been made in brain disorder diagnosis, in particular Autism Spectrum Disorder. The development of machine learning models that can differentiate between healthy subjects and patients is of great importance. Recently, graph neural networks have found increasing application in domains where the population’s structure is modeled as a graph. The application of graphs for analyzing brain imaging datasets helps to discover clusters of individuals with a specific diagnosis. However, the choice of the appropriate population graph becomes a challenge in practice, as no systematic way exists for defining it. To solve this problem, we propose a population graph-based multi-model ensemble, which improves the prediction, regardless of the choice of the underlying graph. First, we construct a set of population graphs using different combinations of imaging and phenotypic features and evaluate them using Graph Signal Processing tools. Subsequently, we utilize a neural network architecture to combine multiple graph-based models. The results demonstrate that the proposed model outperforms the state-of-the-art methods on Autism Brain Imaging Data Exchange (ABIDE) dataset.
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16. Rodgers J, South M. {{Commentary: Thinking flexibly about mental health and autism – a commentary on Ozsivadjian et al. (2020)}}. {J Child Psychol Psychiatry}. 2020.
Research on mental health in autism has quite rightly flourished over the past fifteen years, and there is now clear evidence that autistic people are at heightened risk of experiencing mental health concerns. Recent research has shown that common mental health conditions may be experienced differently by autistic people, meaning that assessment and intervention techniques that were developed with and for neurotypical individuals are potentially less sensitive and effective for those on the spectrum. The upshot of this work is that we need to get better at all of these aspects of identification, support and intervention and that will only be possible with a clear understanding of the mechanisms of mental distress for autistic people. The work described in Ozsivadjian et al. (2020) makes a welcome addition to this literature. In this commentary, we explore the strengths and limitations of the work and consider its contribution to research and clinical practice in the field of autism and mental health.
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17. Rubenstein E, Ehrenthal DB, Mallinson DC, Bishop L, Kuo HH, Durkin M. {{Pregnancy complications and maternal birth outcomes in women with intellectual and developmental disabilities in Wisconsin Medicaid}}. {PLoS One}. 2020; 15(10): e0241298.
BACKGROUND: Women with intellectual and developmental disabilities (IDD) may face greater risk for poor pregnancy outcomes. Our objective was to examine risk of maternal pregnancy complications and birth outcomes in women with IDD compared to women without IDD in Wisconsin Medicaid, from 2007-2016. METHODS: Data were from the Big Data for Little Kids project, a data linkage that creates an administrative data based cohort of mothers and children in Wisconsin. Women with ≥1 IDD claim the year before delivery were classified as having IDD. Common pregnancy complications and maternal birth outcomes were identified from the birth record. We calculated risk ratios (RR) using log-linear regression clustered by mother. We examined outcomes grouped by IDD-type and explored interaction by race. RESULTS: Of 177,691 women with live births, 1,032 (0.58%) had an IDD claim. Of 274,865 deliveries, 1,757 were to mothers with IDD (0.64%). Women with IDD were at greater risk for gestational diabetes (RR: 1.28, 95% CI: 1.0, 1.6), gestational hypertension (RR: 1.22, 95% CI: 1.0, 1.5), and caesarean delivery (RR 1.32, 95% CI: 1.2, 1.4) compared to other women. Adjustment for demographic covariates did not change estimates. Women with intellectual disability were at highest risk of gestational hypertension. Black women with IDD were at higher risk of gestational hypertension than expected under a multiplicative model. CONCLUSIONS: Women with IDD have increased risk of pregnancy complications and adverse outcomes in Wisconsin Medicaid. Results were robust to adjustment. Unique patterns by IDD types and Black race warrant further exploration.
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18. Taylor BJ, Reynolds CF, 3rd, Siegel M. {{Insomnia subtypes and clinical impairment in hospitalized children with autism spectrum disorder}}. {Autism}. 2020: 1362361320967524.
Insomnia subtypes are not well understood in the most severely affected children with autism spectrum disorder. We examined length of hospital stay, autism severity, nonverbal intelligence quotient, and behavioral functioning across insomnia subtypes in 427 psychiatrically hospitalized children with autism spectrum disorder (mean age = 12.8 ± 3.4; 81.3% male). Per parent report, 60% (n = 257) of children had at least one type of insomnia. The distribution of subtypes was difficulty falling asleep (26.1%, n = 67), difficulty staying asleep (24.9%, n = 64), early morning awakening (4.3%, n = 11), and multiple insomnia symptoms (44.7%, n = 115). Difficulty staying asleep and early morning awakenings were associated with longer hospital stays. Early morning awakening was also associated with higher autism symptom severity. In general, children with difficulty staying asleep or multiple insomnia symptoms scored lower on adaptive behaviors (e.g. communication, self-care, socialization) and higher on maladaptive behaviors (e.g. irritability, hyperactivity, emotional reactivity, and emotional dysphoria). Difficulty staying asleep or having multiple insomnia symptoms appears to be most strongly related to impaired behavioral functioning. Conversely, early morning awakenings may be more closely tied with autism spectrum disorder itself. Further research is needed regarding insomnia subtypes at the severe end of the autism spectrum.
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19. Wiggs KK, Rickert ME, Sujan AC, Quinn PD, Larsson H, Lichtenstein P, Oberg AS, D’Onofrio BM. {{Anti-seizure medication use during pregnancy and risk of ASD and ADHD in children}}. {Neurology}. 2020.
OBJECTIVE: To determine whether children born to women who use anti-seizure medications (ASMs) during pregnancy have higher risk of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) independent of confounding factors. METHODS: We used Swedish-register data (n = 14,614 children born 1996-2011 and followed through 2013) to examine associations in children of women with epilepsy, using the largest sample to date and adjusting for a range of measured confounders. We examined maternal-reported first-trimester use of any ASM (22.7%); and the 3 most commonly reported individual drugs (valproic acid, 4.8%; lamotrigine, 6.8%; and carbamazepine, 9.7%). We identified ASD with ICD-10 diagnoses and ADHD with ICD-10 diagnoses or filled prescriptions of ADHD medication. RESULTS: Examination of individual drugs revealed that after adjustment for confounding, use of valproic acid was associated with ASD (Hazard Ratio = 2.30, 95% CI = 1.53-3.47) and ADHD (HR = 1.74, 95% CI = 1.28-2.38). Whereas a small, non-statistically significant association with ASD (HR = 1.25, 95% CI = 0.88-1.79) and ADHD (HR = 1.18, 95% CI = 0.91-1.52) remained for reported use of carbamazepine, confounding explained all of the associations with lamotrigine (HR(ASD) = 0.86, 95% CI = 0.67-1.53; HR(ADHD) = 1.01, 95% CI = 0.67-1.53). CONCLUSIONS: We found no evidence of risk related to exposure to lamotrigine, whereas we observed elevated risk of ASD and ADHD related to maternal use of valproic acid. Associations with carbamazepine were weak and not statistically significant. Our findings add to a growing body of evidence that suggest that certain ASMs may be safer than others in pregnancy.
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20. Zuvekas SH, Grosse SD, Lavelle TA, Maenner MJ, Dietz P, Ji X. {{Healthcare Costs of Pediatric Autism Spectrum Disorder in the United States, 2003-2015}}. {J Autism Dev Disord}. 2020.
Published healthcare cost estimates for children with autism spectrum disorder (ASD) vary widely. One possible contributor is different methods of case ascertainment. In this study, ASD case status was determined using two sources of parent reports among 45,944 children ages 3-17 years in the Medical Expenditure Panel Survey (MEPS) linked to the National Health Interview Survey (NHIS) Sample Child Core questionnaire. In a two-part regression model, the incremental annual per-child cost of ASD relative to no ASD diagnosis was $3930 (2018 US dollars) using ASD case status from the NHIS Child Core and $5621 using current-year ASD case status from MEPS. Both estimates are lower than some published estimates but still represent substantial costs to the US healthcare system.
