1. Armitano-Lago C, Bennett HJ, Haegele JA. Lower Limb Proprioception and Strength Differences Between Adolescents With Autism Spectrum Disorder and Neurotypical Controls. Perceptual and motor skills. 2021; 128(5): 2132-47.

Autism spectrum disorder (ASD) is a complex diagnosis characterized primarily by persistent deficits in social communication/interaction and repetitive behavior patterns, interests, and/or activities. ASD is also characterized by various physiological and/or behavioral features that span sensory, neurological, and neuromotor function. Although problems with lower body coordination and control have been noted, little prior research has examined lower extremity strength and proprioception, a process requiring integration of sensorimotor information to locate body/limbs in space. We designed this study to compare lower limb proprioception and strength in adolescents with ASD and neurotypical controls. Adolescents diagnosed with ASD (n = 17) and matched controls (n = 17) performed ankle plantarflexion/dorsiflexion bilateral proprioception and strength tests on an isokinetic dynamometer. We assessed position-based proprioception using three targeted positions (5 and 20-degrees plantarflexion and 10-degrees dorsiflexion) and speed-based proprioception using two targeted speeds (60 and 120-degrees/second). We assessed strength at 60-degrees/second. Participants with ASD performed 1.3-times more poorly during plantarflexion position and 2-times more poorly during the speed-based proprioception tests compared to controls. Participants with ASD also exhibited a 40% reduction in plantarflexion strength compared to controls. These findings provide insight into mechanisms that underly the reduced coordination, aberrant gait mechanics, and coordination problems often seen in individuals with ASD, and the identification of these mechanisms now permits better targeting of rehabilitative goals in treatment programs.

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2. Auvrignon A, Vialle G, Gérard D, Pommier de Santi C, Bourdeaut F, Davous D. [Cancer in children with intellectual disabilities: Questioning and ethical issues]. Bulletin du cancer. 2021; 108(9): 827-36.

The Parents and Caregivers group in the face of ethics in pediatrics of the Île-de-France Ethics Area wondered about the association of the words Disability and Cancer by focusing on the study of the course of children with intellectual disability, treated for cancer. These situations are exceptional, the number of cases in France must not be more than fifty per year. We gathered the testimony of five families of children using a semi-directive survey taking up the journey from birth, announcement of the handicap, the diagnosis of cancer and its treatment. The verbatim show that each story is unique and rich in lessons, despite the feeling of « double penalty »: « He did not deserve this, a handicap plus cancer is a lot for one person », « the shot moreover. » A healthcare team was also interviewed and raised an additional question: « First, the double penalty… then, what’s the point? » Through these testimonies, we sought to question the ethical principles of care, which can be shaken up in these extraordinary supported.

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3. Belcher HL, Morein-Zamir S, Mandy W, Ford RM. Camouflaging Intent, First Impressions, and Age of ASC Diagnosis in Autistic Men and Women. Journal of autism and developmental disorders. 2021.

Camouflaging of autistic traits may make autism harder to diagnose. The current study evaluated the relations between camouflaging intent, first impressions, and age of autism diagnosis. Participants comprised autistic and non-autistic adults (n = 80, 50% female) who completed the Camouflaging of Autistic Traits Questionnaire. They were later video-recorded having a conversation with a person unaware of their diagnostic status. Ten-second clips from half these videos were later shown to 127 non-autistic peers, who rated their first impressions of each participant. Results showed that autistic participants were rated more poorly on first impressions, males were rated less favourably than females, and male raters were particularly harsh in their evaluations of autistic males. Camouflaging intent did not predict first impressions but better first impressions were linked with a later age of diagnosis.

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4. Choi KR, Bhakta B, Knight EA, Becerra-Culqui TA, Gahre TL, Zima B, Coleman KJ. Patient Outcomes After Applied Behavior Analysis for Autism Spectrum Disorder. Journal of developmental and behavioral pediatrics : JDBP. 2022; 43(1): 9-16.

OBJECTIVES: The purpose of this study was to examine patterns of service receipt and patient outcomes for children receiving applied behavior analysis (ABA) for autism spectrum disorder (ASD) in an integrated health care system in which commercially insured children were covered by a state autism mandate. METHODS: This retrospective, observational study used a random sample of children with ASD (3-17 yrs) who were members of a large integrated health care system in Southern California and referred for ABA between January 2016 and November 2018. From the 4145 children referred, a random stratified sample of 334 was selected to extract data from clinical reports over 24 months of services. The primary outcome measures were time in ABA and child adaptive behavior. RESULTS: Thirteen percent of the sample never received ABA after referral. Of those who were referred for ABA, 66% initiated ABA and remained in services for 12 months, whereas less than half (46%) remained in services for 24 months. Having a history of special education was associated with longer time spent in ABA, whereas having a single parent was associated with discontinuation of ABA. A minority of children received a full ABA dose (28%), but the lowest functioning children still experienced clinically significant adaptive behavior gains after 24 months of ABA (p = 0.02). CONCLUSION: In a health system implementation of ABA for children with ASD, there were high rates of ABA discontinuation and low ABA dosing. These challenges may diminish the potential benefits of ABA, even in a context in which there is mandated commercial insurance coverage.

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5. Fernández de Cossío L, Lacabanne C, Bordeleau M, Castino G, Kyriakakis P, Tremblay M. Lipopolysaccharide-induced maternal immune activation modulates microglial CX3CR1 protein expression and morphological phenotype in the hippocampus and dentate gyrus, resulting in cognitive inflexibility during late adolescence. Brain, behavior, and immunity. 2021; 97: 440-54.

Inflammation during pregnancy can disturb brain development and lead to disorders in the progeny, including autism spectrum disorder and schizophrenia. However, the mechanism by which a prenatal, short-lived increase of cytokines results in adverse neurodevelopmental outcomes remains largely unknown. Microglia-the brain’s resident immune-cells-stand as fundamental cellular mediators, being highly sensitive and responsive to immune signals, which also play key roles during normal development. The fractalkine signaling axis is a neuron-microglia communication mechanism used to regulate neurogenesis and network formation. Previously, we showed hippocampal reduction of fractalkine receptor (Cx3cr1) mRNA at postnatal day (P) 15 in male offspring exposed to maternal immune activation induced with lipopolysaccharide (LPS) during late gestation, which was concomitant to an increased dendritic spine density in the dentate gyrus, a neurogenic niche. The current study sought to evaluate the origin and impact of this reduced hippocampal Cx3cr1 mRNA expression on microglia and cognition. We found that microglial total cell number and density are not affected in the dorsal hippocampus and dentate gyrus, respectively, but that the microglial CX3CR1 protein is decreased in the hippocampus of LPS-male offspring at P15. Further characterization of microglial morphology in the dentate gyrus identified a more ameboid phenotype in LPS-exposed offspring, predominantly in males, at P15. We thus explored maternal plasma and fetal brain cytokines to understand the mechanism behind microglial priming, showing a robust immune activation in the mother at 2 and 4 hrs after LPS administration, while only IL-10 tended towards upregulation at 2 hrs after LPS in fetal brains. To evaluate the functional long-term consequences, we assessed learning and cognitive flexibility behavior during late adolescence, finding that LPS affects only the latter with a male predominance on perseveration. A CX3CR1 gene variant in humans that results in disrupted fractalkine signaling has been recently associated with an increased risk for neurodevelopmental disorders. We show that an acute immune insult during late gestation can alter fractalkine signaling by reducing the microglial CX3CR1 protein expression, highlighting neuron-microglial fractalkine signaling as a relevant target underlying the outcomes of environmental risk factors on neurodevelopmental disorders.

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6. Gowda VK, Srinivasan VM, Reddy V, Saini J, Bhat M. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder. Indian journal of pediatrics. 2021; 88(11): 1156-7.

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7. Linke AC, Chen B, Olson L, Ibarra C, Fong C, Reynolds S, Apostol M, Kinnear M, Müller RA, Fishman I. Sleep Problems in Preschoolers With Autism Spectrum Disorder Are Associated With Sensory Sensitivities and Thalamocortical Overconnectivity. Biological psychiatry Cognitive neuroscience and neuroimaging. 2021.

BACKGROUND: Projections between the thalamus and sensory cortices are established early in development and play an important role in regulating sleep as well as in relaying sensory information to the cortex. Atypical thalamocortical functional connectivity frequently observed in children with autism spectrum disorder (ASD) might therefore be linked to sensory and sleep problems common in ASD. METHODS: Here, we investigated the relationship between auditory-thalamic functional connectivity measured during natural sleep functional magnetic resonance imaging, sleep problems, and sound sensitivities in 70 toddlers and preschoolers (1.5-5 years old) with ASD compared with a matched group of 46 typically developing children. RESULTS: In children with ASD, sleep problems and sensory sensitivities were positively correlated, and increased sleep latency was associated with overconnectivity between the thalamus and auditory cortex in a subsample with high-quality magnetic resonance imaging data (n = 29). In addition, auditory cortex blood oxygen level-dependent signal amplitude was elevated in children with ASD, potentially reflecting reduced sensory gating or a lack of auditory habituation during natural sleep. CONCLUSIONS: These findings indicate that atypical thalamocortical functional connectivity can be detected early in development and may play a crucial role in sleep problems and sensory sensitivities in ASD.

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8. Lombardo MV, Busuoli EM, Schreibman L, Stahmer AC, Pramparo T, Landi I, Mandelli V, Bertelsen N, Barnes CC, Gazestani V, Lopez L, Bacon EC, Courchesne E, Pierce K. Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism. Molecular psychiatry. 2021; 26(12): 7641-51.

Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e., <24 months) leads to greater gains while controlling for time in treatment. Pre-treatment clinical behavioral measures predict 21% of the variance in the rate of skill growth during early intervention. Pre-treatment blood leukocyte gene expression patterns also predict the rate of skill growth, accounting for 13% of the variance in treatment slopes. Results indicated that 295 genes can be prioritized as driving this effect. These treatment-relevant genes highly interact at the protein level, are enriched for differentially histone acetylated genes in autism postmortem cortical tissue, and are normatively highly expressed in a variety of subcortical and cortical areas important for social communication and language development. This work suggests that pre-treatment biological and clinical behavioral characteristics are important for predicting developmental change in the context of early intervention and that individualized pre-treatment biology related to histone acetylation may be key.

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9. Lunsky Y, Durbin A, Balogh R, Lin E, Palma L, Plumptre L. COVID-19 positivity rates, hospitalizations and mortality of adults with and without intellectual and developmental disabilities in Ontario, Canada. Disability and health journal. 2022; 15(1): 101174.

BACKGROUND: Across and within countries there is a need to understand how the COVID-19 pandemic has impacted populations of individuals with intellectual and developmental disabilities (IDD). OBJECTIVE: Rates of COVID-19 positivity for adults with IDD, including Down syndrome, relative to adults without IDD in Ontario, Canada were compared. Health profiles and case-based rates of hospitalizations, intensive care unit admissions, and mortality within 30 days of testing positively were compared for those with IDD, including Down syndrome, versus those without IDD. METHODS: This retrospective cohort study linked health administrative databases using unique encoded identifiers to describe population-level COVID-19 positivity, related hospital use and mortality from January 15, 2020 to January 10, 2021. Incidence rate ratios (RR) and 95% confidence intervals were calculated. RESULTS: Relative to adults without IDD, COVID-19 positivity rates were 1.28 times higher for adults with IDD and 1.42 times higher for adults with Down syndrome. Compared to adults without IDD, adults with IDD were more than twice as likely to be hospitalized following COVID-19 (RR:2.21 (95%CI: 1.93,2.54)) and to die (RR:2.23 (95%CI: 1.86,2.67). These RRs were greater for adults under 65. For adults with Down syndrome, mortality rates were 6.59 (95%CI: 4.51,9.62) times higher than those without IDD. DISCUSSION: In Ontario, Canada, hospitalization and mortality rates associated with COVID-19 are higher for adults with IDD than other adults. These findings should inform vaccination strategies that often prioritize older adults in the general population resulting in people with IDD, who are often in younger age groups, being overlooked.

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10. Muscatello RA, Kim A, Vandekar S, Corbett BA. Diagnostic and Physical Effects in Parasympathetic Response to Social Evaluation in Youth With and Without Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Individuals with autism spectrum disorder (ASD) may demonstrate atypical autonomic (ANS) responses; however, research remains inconsistent. This study examined parasympathetic response during social evaluation in 241 youth (10-13 years) with ASD (n = 138) or typical development (TD; n = 103). Diagnosis, age, pubertal development, and body mass index (BMI) were hypothesized to be associated with ANS function. Linear mixed effects models demonstrated lower RSA in ASD relative to TD in a base model with no covariates. However, when accounting for differences in BMI, there was no evidence of atypical parasympathetic regulation in youth with ASD. As lower parasympathetic regulation may increase susceptibility for a number of conditions, it will be important to elucidate the link between BMI and the ANS, especially in ASD.

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11. Neufeld J, Hederos Eriksson L, Hammarsten R, Lundin Remnélius K, Tillmann J, Isaksson J, Bölte S. The impact of atypical sensory processing on adaptive functioning within and beyond autism: The role of familial factors. Autism : the international journal of research and practice. 2021; 25(8): 2341-55.

Individuals diagnosed with autism tend to process sensory information differently than individuals without autism, resulting for instance in increased sensitivity to sounds or smells. This leads to challenges in everyday life and may restrict the individual’s daily functioning. How direct this link is, however, is currently unclear. We investigated this question in 289 twins of whom 60 were diagnosed with autism and further 61 were diagnosed with other neurodevelopmental disorders. We looked at the association between unusual sensory processing and adaptive skills, both across individuals and within-twin pairs, testing whether individuals with higher levels of atypical sensory processing showed reduced adaptive skills compared to their twins. Since twins share 50%-100% of their genes and part of their environment (e.g. family background), associations within-twin pairs are free from effects of these familial factors. We found that an increased sensitivity to, as well as the avoiding of, sensory input (hyper-responsiveness) was linked to reduced adaptive skills across individuals-but not within-twin pairs. We also found an association between the degree to which individuals seek for sensory input (sensation seeking) and reduced adaptive skills, but only in individuals diagnosed with autism. The results suggest that sensory hyper-responsiveness has negative effects on individuals’ general ability to function, but that this link is influenced by familial factors and hence not direct. In addition, sensation seeking behaviors might have a negative impact on adaptive skills specifically in autistic individuals.

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12. Vorster C, Kritzinger A, Coetser LE, Van der Linde J. Preliminary reliability of South African adaptation and Northern Sotho translation of the Modified Checklist for Autism in Toddlers, Revised with Follow-Up. The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings. 2021; 68(1): e1-e7.

BACKGROUND: There is a shortage of validated autism screening tests in the 11 official languages of South Africa. The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/FTM), a validated and well-known screening test, had already been adapted (in English) and translated into Northern Sotho for use in South Africa. OBJECTIVES: The aim was to collect pilot data to determine the preliminary reliability and feasibility of the two tests to confirm the equivalence of the adaptation and translation. METHOD: The study was conducted in a peri-urban community in South Africa. Twenty-one first-language Northern Sotho caregivers of children aged between 18 and 48 months were recruited by employing snowball sampling. The participants were asked to complete the Northern Sotho and the culturally adapted English M-CHAT-R/F, which were presented in random order. RESULTS: The preliminary content validity and equivalence were evident, with no difference at the 5% interval of the Wilcoxon signed rank test. All 21 toddlers screened presented with a low risk for autism following the recommended execution of the Follow-Up section for the toddlers in the medium risk category. All participants completed the two screening tests, with none indicating unfamiliar words or constructs. A higher preference for the English adapted version was found but a need for the Northern Sotho screening test was also evidentConclusion: The Northern Sotho translation of the M-CHAT-R/F, as well as the adapted English version, appears feasible and is ready for comprehensive validation.

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