1. Burkett K, Haggard ML, Van Rafelghem D, Harpster K. Restricted Eating in Preschoolers with Autism: Mother Stressors and Solutions. Journal of autism and developmental disorders. 2021.

Feeding interventions for children with Autism Spectrum Disorder (ASD) focus solely on the child, not the family milieu. This qualitative study aimed to understand mothers’ perspectives on managing restricted eating among preschoolers with ASD. Focus groups were conducted with eleven mothers of preschoolers with ASD. Audio recordings were transcribed, and data analyzed for themes. Mothers experienced stressors balancing priorities of adequate nutrition with family mealtime demands and found solutions in support from other mothers, strategies from a wide array of sources, and resorting to trial and error to improve eating. Healthcare practitioners should explore and consider family stressors, competing demands, and coping skills when recommending mealtime interventions for optimal child and family well-being.

Lien vers le texte intégral (Open Access ou abonnement)

2. Çitil G, Çöp E, Açıkel SB, Sarı E, Karacan CD, Şenel S. Assessment of the knowledge and awareness of pediatric residents and pediatricians about autism spectrum disorder at a single center in Turkey. Journal of community psychology. 2021; 49(7): 2264-75.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder and pediatricians play a critical role in early diagnosis. This study was conducted to evaluate the knowledge, beliefs, and experiences of pediatric residents and pediatricians about ASD. A 35-item questionnaire consisting of two sections was administered. The diagnostic features section consisted of questions measuring the level of knowledge about diagnostic criteria of ASD. The general knowledge and beliefs section consisted of questions about beliefs and experiences regarding ASD. The study consisted of 101 participants. Mean score obtained by all participants from the diagnostic features section was 5.78 ± 1.65. The mean scores obtained by residents and pediatricians from the diagnostic features section were 5.35 ± 1.5 and 6.31 ± 1.68. Pediatricians obtained higher scores significantly than residents from diagnostic features section (t = -2.99, p = 0.004). The mean scores obtained by residents and pediatricians from section of general knowledge and beliefs were 13.69 ± 3 and 14.48 ± 3.15. This difference was not significant (t = -1.27, p = 0.225). This study suggests that participants’ knowledge and awareness about ASD was insufficient and while pediatricians knew more about the diagnostic criteria, their awareness and approach regarding ASD were no different from pediatric residents in general practice.

Lien vers le texte intégral (Open Access ou abonnement)

3. Gisbert-Gustemps L, Lugo-Marín J, Ramos IS, Martín GE, Vieta E, Bonnín CM, Quiroga JAR. Functioning assessment short test (FAST): validity and reliability in adults with Autism Spectrum Disorder. BMC psychiatry. 2021; 21(1): 321.

BACKGROUND: The assessment of functional impairment is crucial both for the diagnosis and the therapeutic approach to autism spectrum disorder (ASD). The purpose of the present study was to evaluate whether the FAST is a reliable and valid tool to assess functional impairment in adults with Level 1 ASD and to study the differences in psychosocial functioning between younger and older adults with ASD. METHODS: A case-control study was carried out in a sample of 150 participants, 71 adults with Level 1 ASD, and 79 adults without psychiatric history records. RESULTS: Results showed good psychometric properties in terms of validity and reliability. Cronbach’s alpha for the total scale was .91 and the area under the curve was .98. The study also showed that adults with ASD present different profiles of functional impairment depending on their age: while younger patients present greater impairment in autonomy, older patients show more difficulties in interpersonal relationships. CONCLUSIONS: Our results support the use of the FAST in the evaluation of adaptive functioning in adults with Level 1 ASD.

Lien vers le texte intégral (Open Access ou abonnement)

4. MacKenzie KT, Eack SM. Interventions to Improve Outcomes for Parents of Children with Autism Spectrum Disorder: A Meta-Analysis. Journal of autism and developmental disorders. 2021.

This meta-analysis examines the impact of parent interventions on outcomes for parents of children with ASD. A systematic review of the literature produced 37 studies that met inclusion criteria. Random-effects models revealed small but significant impacts of intervention on parental outcomes, primarily in parenting confidence and mental health. No improvements were observed in caregiving burden, family adjustment, physical health, or stress. Significant heterogeneity was observed; however, no moderation effects were detected for intervention or sample characteristics. These findings suggest parent interventions improve parenting confidence and, to a lesser degree, mental health. More work is needed to develop interventions that address a wider range of outcomes for parents of children with ASD. Limitations and implications for future research are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

5. McNally Keehn R, Tomlin A, Ciccarelli MR. COVID-19 Pandemic Highlights Access Barriers for Children with Autism Spectrum Disorder. Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(7): 599-601.

Lien vers le texte intégral (Open Access ou abonnement)

6. Mujeeb Rahman KK, Monica Subashini M. A Deep Neural Network-Based Model for Screening Autism Spectrum Disorder Using the Quantitative Checklist for Autism in Toddlers (QCHAT). Journal of autism and developmental disorders. 2021.

Autism spectrum disorder (ASD) is an abnormal condition of brain development characterized by impaired cognitive ability, speech and human interactions, in addition to a set of repetitive and stereotyped patterns of behaviours. Although no cure for autism exists, early medical intervention can improve the associated symptoms and quality of life. Several manually executed screening tools help to identify the ASD-related behavioural traits in the children that assists the specialist in diagnosing the disease accurately. The quantitative checklist for autism in toddlers (QCHAT) is one of the efficient screening tools used worldwide for ASD screening. ASD diagnosis requires many different manually administered procedures; hence long delay is encountered in getting final results. In recent years, deep neural network (DNN) popularity has been immensely increasing due to its supremacy in solving complex problems. The objective of this research is to apply algorithms, based on the deep neural network (DNN) to identify patients with ASD from the QCHAT datasets. We have used two datasets, the QCHAT and QCHAT-10, in our study. The results obtained show that related to contemporary techniques, the proposed method brings better performance.

Lien vers le texte intégral (Open Access ou abonnement)

7. Radoeva PD, Ballinger K, Ho T, Webb SJ, Stobbe GA. Brief Report: Risk and Protective Factors Associated with Depressive Symptoms among Autistic Adults. Journal of autism and developmental disorders. 2021.

Autistic individuals are at risk for developing depression though the risk and protective factors for co-occurring depression in autistic individuals are not yet fully characterized. In this retrospective medical chart review study, we explored factors associated with self-reported depressive symptoms (Patient Health Questionnaire-9) in autistic adults (N = 58). For autistic adults, engagement in one or more activities (recreational, educational and/or vocational) was associated with less severe depressive symptoms (Mann-Whitney U test, p = 0.006); and reported family history of depression/anxiety was associated with increased likelihood of suicidal ideation (Chi-square test, p = 0.027). Promotion of community-based activities and family support systems may be an integral part of creating effective treatment plans for depressive symptoms in autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

8. Roy D, Uddin LQ. Atypical core-periphery brain dynamics in autism. Network neuroscience (Cambridge, Mass). 2021; 5(2): 295-321.

The intrinsic function of the human brain is dynamic, giving rise to numerous behavioral subtypes that fluctuate distinctively at multiple timescales. One of the key dynamical processes that takes place in the brain is the interaction between core-periphery brain regions, which undergoes constant fluctuations associated with developmental time frames. Core-periphery dynamical changes associated with macroscale brain network dynamics span multiple timescales and may lead to atypical behavior and clinical symptoms. For example, recent evidence suggests that brain regions with shorter intrinsic timescales are located at the periphery of brain networks (e.g., sensorimotor hand, face areas) and are implicated in perception and movement. On the contrary, brain regions with longer timescales are core hub regions. These hubs are important for regulating interactions between the brain and the body during self-related cognition and emotion. In this review, we summarize a large body of converging evidence derived from time-resolved fMRI studies in autism to characterize atypical core-periphery brain dynamics and how they relate to core and contextual sensory and cognitive profiles.

Lien vers le texte intégral (Open Access ou abonnement)

9. Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, Schaller F, Loubat A, Herault L, Gaillard S, Pallesi-Pocachard E, Montheil A, Bosio A, Rosenfeld JA, Hudson E, Lindstrom K, Mercimek-Andrews S, Jeffries L, van Haeringen A, Vanakker O, Van Hecke A, Amrom D, Küry S, Ratner C, Jethva R, Gamble C, Jacq B, Fasano L, Santpere G, Lorente-Galdos B, Sestan N, Gelot A, Giacuzz S, Goebbels S, Represa A, Cardoso C, Cremer H, de Chevigny A. Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons. Molecular psychiatry. 2021; 26(11): 6125-48.

While the transcription factor NEUROD2 has recently been associated with epilepsy, its precise role during nervous system development remains unclear. Using a multi-scale approach, we set out to understand how Neurod2 deletion affects the development of the cerebral cortex in mice. In Neurod2 KO embryos, cortical projection neurons over-migrated, thereby altering the final size and position of layers. In juvenile and adults, spine density and turnover were dysregulated in apical but not basal compartments in layer 5 neurons. Patch-clamp recordings in layer 5 neurons of juvenile mice revealed increased intrinsic excitability. Bulk RNA sequencing showed dysregulated expression of many genes associated with neuronal excitability and synaptic function, whose human orthologs were strongly associated with autism spectrum disorders (ASD). At the behavior level, Neurod2 KO mice displayed social interaction deficits, stereotypies, hyperactivity, and occasionally spontaneous seizures. Mice heterozygous for Neurod2 had similar defects, indicating that Neurod2 is haploinsufficient. Finally, specific deletion of Neurod2 in forebrain excitatory neurons recapitulated cellular and behavioral phenotypes found in constitutive KO mice, revealing the region-specific contribution of dysfunctional Neurod2 in symptoms. Informed by these neurobehavioral features in mouse mutants, we identified eleven patients from eight families with a neurodevelopmental disorder including intellectual disability and ASD associated with NEUROD2 pathogenic mutations. Our findings demonstrate crucial roles for Neurod2 in neocortical development, whose alterations can cause neurodevelopmental disorders including intellectual disability and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

10. Shin K, Lim G, Hong YS, Kim S, Hwang S, Lee J, Sin S, Cho A, Kim Y, Gautam R, Jo J, Acharya M, Maharjan A, Lee D, K CP, Kim C, Heo Y, Kim HA. Exposure to lead on expression levels of brain immunoglobulins, inflammatory cytokines, and brain-derived neurotropic factor in fetal and postnatal mice with autism-like characteristics. Journal of toxicology and environmental health Part A. 2021; 84(21): 891-900.

Autism spectrum disorders (ASD) are neurodevelopmental disorders, and their incidence is increasing worldwide. Increased exposure to environmental metal lead (Pb) has been proposed as a risk factor associated with ASD. In the present study, BTBR T+ tf/J (BTBR) mice with ASD-like behavioral characteristics and control FVB mice were exposed gestationally and/or neonatally to Pb, and compared with highly social FVB mice to investigate neuroimmunological abnormalities. IgG1 and IgG2a levels in fetal brains from BTBR dams exposed to Pb (BTBR-Pb) were significantly higher than those of BTBR-controls (BTBR-C). However, this change did not occur in FVB mice exposed to Pb. The IgG1:IgG2a ratio was higher in both fetal and postnatal brains of BTBR mice compared to FVB animals regardless of Pb exposure. The IL-4:IFN-γ ratio was elevated in BTBR-Pb relative to BTBR-C mice, but this ratio was not markedly affected following Pb exposure in FVB animals. These findings suggest the potential for a Pb-driven predominant T(H)2-like reactivity profile in brain microenvironment present in BTBR mice. Brain-derived neurotrophic factor was decreased in fetal and postnatal BTBR-Pb brains relative to BTBR-C brains but not in FVB-Pb relative to FVB-C mice. Taken together, data demonstrate that Pb exposure might contribute to developmental brain abnormalities associated with ASD, particularly in individuals with genetic susceptibility to ASD.

Lien vers le texte intégral (Open Access ou abonnement)