1. Baker EK, Butler MG, Hartin SN, Ling L, Bui M, Francis D, Rogers C, Field MJ, Slee J, Gamage D, Amor DJ, Godler DE. {{Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders}}. {Translational psychiatry}. 2020; 10(1): 362.
Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region, associated with abnormal DNA methylation and/or copy number changes. This study compared changes in mRNA levels of UBE3A and SNORD116 located within the 15q11-q13 region between these disorders and their subtypes and related these to the clinical phenotypes. The study cohort included 58 participants affected with a C15 imprinting disorder (PWS = 27, AS = 21, Dup15q = 10) and 20 typically developing controls. Semi-quantitative analysis of mRNA from peripheral blood mononuclear cells (PBMCs) was performed using reverse transcription droplet digital polymerase chain reaction (PCR) for UBE3A and SNORD116 normalised to a panel of internal control genes determined using the geNorm approach. Participants completed an intellectual/developmental functioning assessment and the Autism Diagnostic Observation Schedule-2nd Edition. The Dup15q group was the only condition with significantly increased UBE3A mRNA levels when compared to the control group (p < 0.001). Both the AS and Dup15q groups also had significantly elevated SNORD116 mRNA levels compared to controls (AS: p < 0.0001; Dup15q: p = 0.002). Both UBE3A and SNORD116 mRNA levels were positively correlated with all developmental functioning scores in the deletion AS group (p < 0.001), and autism features (p < 0.001) in the non-deletion PWS group. The findings suggest presence of novel interactions between expression of UBE3A and SNORD116 in PBMCs and brain specific processes underlying motor and language impairments and autism features in these disorders. Lien vers le texte intégral (Open Access ou abonnement)
2. Bilgiç A, Abuşoğlu S, Sadıç Çelikkol Ç, Oflaz MB, Akça Ö F, Sivrikaya A, Baysal T, Ünlü A. {{Altered kynurenine pathway metabolite levels in toddlers and preschool children with autism spectrum disorder}}. {Int J Neurosci}. 2020: 1-9.
AIM: There are increasing reports about the potential role of kynurenine pathway metabolites in autism spectrum disorder (ASD). Early childhood is a very crucial period of time for the etiopathogenesis of ASD and previous studies reported an age-dependent alteration in kynurenine metabolism. However, no study specifically examined kynurenine metabolites in very young children with ASD. This study aimed to investigate kynurenine pathway metabolite levels, kynurenine pathway enzyme activities and neuroprotective index (kynurenic acid/3-hydroxykynurenine ratio) in toddlers and preschool children with ASD. MATERIALS AND METHODS: A total of 68 children with ASD and 44 healthy controls aged between 18 and 60 months were included in this study. Serum levels of kynurenine pathway metabolites were determined by liquid chromatography-mass spectrometry/mass spectrometry system. RESULTS: Serum 3-hydroxykynurenine and kynurenic acid concentrations were significantly higher in the ASD group than in the control group, whereas serum 3-hydroxyanthranilic acid concentrations were significantly lower. CONCLUSIONS: These findings showed that the kynurenine pathway may play a role in the etiopathogenesis of ASD in early childhood.
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3. Cacciante F, Gennaro M, Sagona G, Mazziotti R, Lupori L, Cerri E, Putignano E, Butt M, Do MT, McKew JC, Alessandrì MG, Battini R, Cioni G, Pizzorusso T, Baroncelli L. {{Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency}}. {Sci Rep}. 2020; 10(1): 18361.
Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure for this disorder. Here, we employed novel biomarkers for monitoring brain function, together with well-established behavioral readouts for CTD mice, to longitudinally study the therapeutic efficacy of cyclocreatine (cCr) at the preclinical level. Our results show that cCr treatment is able to partially correct hemodynamic responses and EEG abnormalities, improve cognitive deficits, revert autistic-like behaviors and protect against seizures. This study provides encouraging data to support the potential therapeutic benefit of cyclocreatine or other chemically modified lipophilic analogs of Cr.
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4. Cardillo R, Mammarella IC, Demurie E, Giofrè D, Roeyers H. {{Pragmatic Language in Children and Adolescents With Autism Spectrum Disorder: Do Theory of Mind and Executive Functions Have a Mediating Role?}}. {Autism Res}. 2020.
Pragmatic language (PL) is defined as the ability to use language effectively in communicative exchanges. Previous findings showed that deficits in PL are a core characteristic of the communicative profile of individuals with autism spectrum disorder (ASD). While different lines of research have revealed a close link between PL and theory of mind (ToM), and between PL and executive functions (EFs), to our knowledge, few studies have explored the relationship between these three domains in children with ASD, and their results have been contradictory. The present study thus aimed to contribute to our understanding of PL in children with ASD and to analyze the underlying mediating role of ToM and EFs. PL is a complex and multifaceted construct. In the present study, we focused on two specific aspects, such as the comprehension of nonliteral language, and the ability to make inferences. After testing 143 participants (73 with ASD), our results confirmed that impairments in PL are a crucial feature of the ASD profile. Children with ASD were also more impaired than their typically developing peers in both ToM and EFs. When the mediating role of ToM and EFs on PL was considered, it emerged that only ToM contributed significantly to the relationship between group and PL. We discussed the potential importance of interventions not focused exclusively on PL, but also involving ToM. LAY SUMMARY: In everyday life, we use pragmatic language to interact successfully with others. Individuals with autism experience significant difficulty in pragmatic language, showing consequent impairments in communication. This study compared the comprehension of nonliteral language, and the ability to make inferences of children with autism and children with typical development, focusing on the role of social and cognitive abilities. Children with autism had difficulties in pragmatic language compared to children with typical development. In addition, the capacity to consider the perspective, intentions and beliefs of other people contributed significantly to the pragmatic language.
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5. Chiang AH, Chang J, Wang J, Vitkup D. {{Exons as units of phenotypic impact for truncating mutations in autism}}. {Mol Psychiatry}. 2020.
Autism spectrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genetic and phenotypic heterogeneity. Despite recent progress in understanding ASD genetics, the nature of phenotypic heterogeneity across probands remains unclear. Notably, likely gene-disrupting (LGD) de novo mutations affecting the same gene often result in substantially different ASD phenotypes. Nevertheless, we find that truncating mutations affecting the same exon frequently lead to strikingly similar intellectual phenotypes in unrelated ASD probands. Analogous patterns are observed for two independent proband cohorts and several other important ASD-associated phenotypes. We find that exons biased toward prenatal and postnatal expression preferentially contribute to ASD cases with lower and higher IQ phenotypes, respectively. These results suggest that exons, rather than genes, often represent a unit of effective phenotypic impact for truncating mutations in autism. The observed phenotypic patterns are likely mediated by nonsense-mediated decay (NMD) of splicing isoforms, with autism phenotypes usually triggered by relatively mild (15-30%) decreases in overall gene dosage. We find that each ASD gene with recurrent mutations can be characterized by a parameter, phenotype dosage sensitivity (PDS), which quantifies the relationship between changes in a gene’s dosage and changes in a given disease phenotype. We further demonstrate analogous relationships between exon LGDs and gene expression changes in multiple human tissues. Therefore, similar phenotypic patterns may be also observed in other human genetic disorders.
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6. De Clercq LE, Dieleman LM, van der Kaap-Deeder J, Soenens B, Prinzie P, De Pauw SSW. {{Negative Controlling Parenting and Child Personality as Modifiers of Psychosocial Development in Youth with Autism Spectrum Disorder: A 9-Year Longitudinal Study at the Level of Within-Person Change}}. {J Autism Dev Disord}. 2020.
This nine-year longitudinal study addresses the joint contribution of parent-rated negative controlling parenting and child personality on psychosocial outcomes in 141 families of children with autism spectrum disorder (83% boys, mean age Time 1 = 10.1). Latent change modeling revealed substantial variation in within-person change in parenting and psychosocial outcomes across a six- and three-year-interval. Over time, negative controlling parenting and child personality were consistently related to externalizing problems, whereas child personality was differentially related to internalizing problems and psychosocial strengths. Three personality-by-parenting interactions were significant, suggesting that children with less mature personality traits show more externalizing behaviors in the presence of controlling parenting. This study identified both parenting and child personality as important modifiers of developmental outcomes in youth with autism.
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7. Fioriello F, Maugeri A, D’Alvia L, Pittella E, Piuzzi E, Rizzuto E, Del Prete Z, Manti F, Sogos C. {{A wearable heart rate measurement device for children with autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 18659.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by early impairment in social and communication domains and autonomic nervous system unbalance. This study evaluated heart rate (HR) as a possible indicator of stress response in children with ASD as compared to children with language disorder (LD). Twenty-four patients [mean age = 42.62 months; SD = 8.14 months,12 with ASD (10 M/2F) and 12 with LD (8 M/4F)] underwent clinical [Leiter International Performance Scale-Revised, Autism Diagnostic Observation Schedule, second edition (ADOS-2)] and physiological evaluation (HR monitoring) during five interactive activities, while wearing an HR measurement device. IQ (ASD:IQ = 103.33 ± 12.85 vs. LD:IQ = 111.00 ± 8.88, p = 0.103) and fluid reasoning on the Leiter-R Scale were within the normal range in all subjects. Increased HR during the third activity (ADOS-2 bubble play) significantly correlated with autistic symptoms (r = 0.415; p = 0.044), while correlations between ADOS-2 total score and HR during the first activity (ADOS-2 free play; r = 0.368; p = 0.077), second activity (Leiter-R figure ground subscale; r = 0.373, p = 0.073), and fifth activity (ADOS-2 anticipation of a routine with objects; r = 0.368; p = 0.076) did not quite reach statistical significance. Applying a linear regression model, we found that the ADOS-2 total score significantly influenced HR variations (p = 0.023). HR monitoring may provide a better understanding of the stress-provoking situations for children with ASD. Furthermore, it could help clinicians detect the impact of the stressful condition on the autistic core and adress treatment strategy.
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8. Guo X, Duan X, Suckling J, Wang J, Kang X, Chen H, Biswal BB, Cao J, He C, Xiao J, Huang X, Wang R, Han S, Fan YS, Guo J, Zhao J, Wu L, Chen H. {{Mapping Progressive Gray Matter Alterations in Early Childhood Autistic Brain}}. {Cereb Cortex}. 2020.
Autism spectrum disorder is an early-onset neurodevelopmental condition. This study aimed to investigate the progressive structural alterations in the autistic brain during early childhood. Structural magnetic resonance imaging scans were examined in a cross-sectional sample of 67 autistic children and 63 demographically matched typically developing (TD) children, aged 2-7 years. Voxel-based morphometry and a general linear model were used to ascertain the effects of diagnosis, age, and a diagnosis-by-age interaction on the gray matter volume. Causal structural covariance network analysis was performed to map the interregional influences of brain structural alterations with increasing age. The autism group showed spatially distributed increases in gray matter volume when controlling for age-related effects, compared with TD children. A significant diagnosis-by-age interaction effect was observed in the fusiform face area (FFA, Fpeak = 13.57) and cerebellum/vermis (Fpeak = 12.73). Compared with TD children, the gray matter development of the FFA in autism displayed altered influences on that of the social brain network regions (false discovery rate corrected, P < 0.05). Our findings indicate the atypical neurodevelopment of the FFA in the autistic brain during early childhood and highlight altered developmental effects of this region on the social brain network. Lien vers le texte intégral (Open Access ou abonnement)
9. Hall DA, Leehey MA, Hagerman RJ, Pelak VS. {{Eye Movements in Fragile X-Associated Tremor/Ataxia Syndrome}}. {Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society}. 2020.
BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by ataxia, tremor, and parkinsonism. Eye motility abnormalities on the clinical examination of FXTAS patients have not been formally studied. METHODS: A case-control study with fragile X gene mutation carriers with and without FXTAS and normal controls was conducted and included a videotaping of ocular items of the International Cooperative Ataxia Rating Scale (ICARS). A neuro-ophthalmologist blinded to gene status rated nystagmus, ocular pursuit, and saccades. RESULTS: Forty-four cases and controls were recruited, with an average age of 55.2 years (±7.4) and 57% women. Gaze-evoked nystagmus was increased in fragile X gene carriers (odds ratio 1.44, 95% confidence interval: 0.33-7.36) but was not statistically significant. There was no difference in ocular pursuit nor saccade dysmetria between cases and controls. CONCLUSION: The results show that clinical examination findings of ocular abnormalities, using the ICARS oculomotor disorders movement subscale, are not more common in FXTAS or FMR1 premutation carriers than normal controls on examination in the clinic. Examining a larger cohort of patients with FXTAS would be an ideal next step.
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10. Irigonhê ATD, Moreira AMT, Valle DAD, Santos M. {{MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW}}. {Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo}. 2020; 39: e2019397.
OBJECTIVE: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. CASE DESCRIPTION: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. COMMENTS: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.
Publisher: Abstract available from the publisher.
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11. Kassee C, Babinski S, Tint A, Lunsky Y, Brown HK, Ameis SH, Szatmari P, Lai MC, Einstein G. {{Physical health of autistic girls and women: a scoping review}}. {Mol Autism}. 2020; 11(1): 84.
BACKGROUND: There is a growing recognition of sex and gender influences in autism. Increasingly, studies include comparisons between sexes or genders, but few have focused on clarifying the characteristics of autistic girls’/women’s physical health. METHODS: A scoping review was conducted to determine what is currently known about the physical health of autistic girls/women. We screened 1112 unique articles, with 40 studies meeting the inclusion criteria. We used a convergent iterative process to synthesize this content into broad thematic areas. RESULTS: Autistic girls/women experience more overall physical health challenges compared to non-autistic girls/women and to autistic boys/men. Emerging evidence suggests increased prevalence of epilepsy in autistic girls/women compared to non-autistic girls/women and to autistic boys/men. The literature also suggests increased endocrine and reproductive health conditions in autistic girls/women compared to non-autistic girls/women. Findings regarding gastrointestinal, metabolic, nutritional, and immune-related conditions are preliminary and inconsistent. LIMITATIONS: The literature has substantial heterogeneity in how physical health conditions were assessed and reported. Further, our explicit focus on physical health may have constrained the ability to examine interactions between mental and physical health. The widely differing research aims and methodologies make it difficult to reach definitive conclusions. Nevertheless, in keeping with the goals of a scoping review, we were able to identify key themes to guide future research. CONCLUSIONS: The emerging literature suggests that autistic girls/women have heightened rates of physical health challenges compared to non-autistic girls/women and to autistic boys/men. Clinicians should seek to provide holistic care that includes a focus on physical health and develop a women’s health lens when providing clinical care to autistic girls/women.
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12. Kelly SE, Schmitt LM, Sweeney JA, Mosconi MW. {{Reduced Proactive Control Processes Associated With Behavioral Response Inhibition Deficits in Autism Spectrum Disorder}}. {Autism Res}. 2020.
Impairments in inhibitory control are common in individuals with autism spectrum disorder (ASD) and associated with multiple clinical issues. Proactive (i.e., delaying response onset) and reactive control mechanisms (i.e., stopping quickly) contribute to successful inhibitory control in typically developing individuals and may be compromised in ASD. We assessed inhibitory control in 58 individuals with ASD and 63 typically developing controls aged 5-29 years using an oculomotor stop-signal task during which participants made rapid eye movements (i.e., saccades) toward peripheral targets (i.e., GO trials) or inhibited saccades (i.e., STOP trials). Individuals with ASD exhibited reduced ability to inhibit saccades, reduced reaction time slowing (GO RT slowing), and faster stop-signal reaction times (SSRT) compared to controls. Across participants, stopping accuracy was positively related to GO RT slowing, and increased age was associated with higher stopping accuracy and GO RT slowing. Our results indicate that failures to proactively delay prepotent responses in ASD underpin deficits of inhibitory control and may contribute to difficulties modifying their behavior according to changes in contextual demands. These findings implicate frontostriatal brain networks in inhibitory control and core symptoms of ASD. LAY SUMMARY: Difficulties stopping actions are common in individuals with autism spectrum disorder (ASD) and are related to repetitive behaviors. This study compared the ability to stop eye movements in individuals with ASD and healthy peers. We found that individuals with ASD were less able to stop eye movements and that this difficulty was related to a reduced ability to delay their eye movements before seeing the cue to stop, not their ability to react quickly to this cue.
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13. Kimura Y, Fujioka T, Jung M, Fujisawa TX, Tomoda A, Kosaka H. {{An investigation of the effect of social reciprocity, social anxiety, and letter fluency on communicative behaviors in adults with autism spectrum disorder}}. {Psychiatry Res}. 2020; 294: 113503.
In recent years, research focusing on childhood has reported that communication difficulties in autism spectrum disorder (ASD) are related to the social reciprocity difficulties inherent to ASD, as well as severe social anxiety and decreased verbal fluency. However, there have been no reports regarding these correlations and causal relationships in adulthood. The aim of this study was to reveal the effects of social reciprocity, social anxiety, and letter fluency on communicative behaviors in adults with ASD (n = 33, aged 18-43 years, mean age = 27.88 years) and to compare these to typically developing (TD) adults (n = 35, 19-40 years, mean age = 28.03 years). We validated a model using structural equation modeling in which social reciprocity not only directly affected communicative behaviors, but also indirectly affected communicative behaviors mediated by social anxiety and verbal fluency. The results of the structural equation modeling showed that communicative behaviors patterns differed between the ASD and TD groups, as the ASD group had high goodness of fit with the hypothesis model while the TD group had low goodness of fit. These findings signify that in ASD, in addition to problems in social reciprocity, social anxiety (fear) is a risk factor for worsening communicative behaviors difficulties.
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14. 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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15. Levy Y. {{Commentary: Time to reconceptualize ASD? comments on Happe and Frith (2020) and Sonuga-Barke (2020)}}. {J Child Psychol Psychiatry}. 2020.
Happe and Frith (2020) list seven changes in the concept of autism that have taken place since the 80s when autism became the focus of clinical concerns and research interests. These dramatic changes, supported by additional research results, have not convinced Sonuga-Barke (2020) that a Kuhnian revolution in psychiatric nosology may be at our front door. This commentary will discuss this conclusion, calling on ASD researchers to re-evaluate the benefits of a paradigm shift in the nosology of ASD.
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16. Lewis EM, Stein-O’Brien GL, Patino AV, Nardou R, Grossman CD, Brown M, Bangamwabo B, Ndiaye N, Giovinazzo D, Dardani I, Jiang C, Goff LA, Dölen G. {{Parallel Social Information Processing Circuits Are Differentially Impacted in Autism}}. {Neuron}. 2020.
Parallel processing circuits are thought to dramatically expand the network capabilities of the nervous system. Magnocellular and parvocellular oxytocin neurons have been proposed to subserve two parallel streams of social information processing, which allow a single molecule to encode a diverse array of ethologically distinct behaviors. Here we provide the first comprehensive characterization of magnocellular and parvocellular oxytocin neurons in male mice, validated across anatomical, projection target, electrophysiological, and transcriptional criteria. We next use novel multiple feature selection tools in Fmr1-KO mice to provide direct evidence that normal functioning of the parvocellular but not magnocellular oxytocin pathway is required for autism-relevant social reward behavior. Finally, we demonstrate that autism risk genes are enriched in parvocellular compared with magnocellular oxytocin neurons. Taken together, these results provide the first evidence that oxytocin-pathway-specific pathogenic mechanisms account for social impairments across a broad range of autism etiologies.
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17. 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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18. Luckow C, Thomas AA. {{Scurvy in a Pediatric Patient With Autism and Limp: A Case Report}}. {The Journal of emergency medicine}. 2020.
BACKGROUND: Limping is a common chief complaint in the pediatric emergency department (ED) and can be difficult to assess in pediatric patients, particularly if they have developmental delay. CASE REPORT: We present a case of a 5-year-old male with nonverbal autism who presented with a progressive limp, weakness, pain, and rash over the course of 1 month. A magnetic resonance imaging scan of the pelvis performed while the patient was sedated revealed multifocal osseous marrow signal abnormalities, ultimately consistent with vitamin C deficiency or scurvy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Scurvy can present with nonspecific limp, rash, and bony pain and should be considered in pediatric patients with developmental/sensory delay who may restrict their diets. Emergency physicians should broaden their differential diagnoses to nutritional deficiencies such as scurvy in the evaluation of pediatric patients with limp.
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19. Miller LE, Kaseda ET, Koop JI, Mau KA, Heffelfinger AK. {{Differential access to neuropsychological evaluation in children with perinatal complications or autism spectrum disorder: Impact of sociodemographic factors}}. {The Clinical neuropsychologist}. 2020: 1-21.
Early childhood evaluation can identify deficits related to disruptions in early brain development and facilitate interventions. Access to care may differ by race/ethnicity or socioeconomic status. We explored neuropsychological evaluation access patterns and examined potential sociodemographic disparities in evaluation timing. Method: Participants were 213 children (age: M = 46.4 months, SD = 15.3 months) with a history of disrupted neural development due to perinatal complications (PC; n = 109) or autism spectrum disorder (ASD; n = 104). We used chi square tests of independence and one-way ANOVAs to compare groups on sociodemographics, referral sources, and cognition. Clinical sample means for cognitive and adaptive variables were compared to normative means to determine the presence of developmental delays. Differences in age at evaluation by race/ethnicity, caregiver education, and referral source, accounting for cognition, were explored with ANCOVAs. Results: The ASD group included significantly more White children and the PC group relatively more Black/African Americans. Children with ASD were referred by primary care physicians and caregivers/school staff; those with PC were referred by other medical providers. All participants performed more poorly than expected across all intellectual and adaptive domains, with greater delays in the ASD group. Children of caregivers with lower education were evaluated earlier in the PC group. For ASD, participants referred by primary care physicians were evaluated earlier. Conclusions: Children with PC and ASD exhibit cognitive delays and require neuropsychological evaluation. Disparities in access to care exist, particularly for minority children with ASD. Ways to promote equal access are discussed.
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20. Schiltz HK, Van Hecke AV. {{Applying the Vulnerability Stress Adaptation Model of Marriage to Couples Raising an Autistic Child: A Call for Research on Adaptive Processes}}. {Clinical child and family psychology review}. 2020.
Parents of children on the autism spectrum are particularly susceptible to strain in their romantic relationships due to unique risk factors. While some relationships deteriorate, however, others endure and thrive. The Vulnerability Stress Adaptation (VSA) Model of Marriage (Karney & Bradbury, 1995; Fig. 1) offers a framework to explain, not only poor marital outcomes, but also the process by which degradation of relationships occurs over time. The VSA Model posits that a combination of internal (within-person) vulnerabilities and external stressors influence relationship quality and, in turn, stability, by affecting couples’ abilities to collaborate to adapt to stressors and solve problems (i.e., adaptive processes). With robust theoretical grounding, this review comprehensively summarizes and integrates literature pertaining to the romantic relationships of couples raising an autistic child through the lens of the VSA Model. Vulnerabilities, stressors, and adaptive processes relevant to these couples are identified, and empirical evidence pertaining to the proposed pathways in the VSA Model is explored. The body of research reviewed provides support for many of the proposed pathways in the VSA Model, especially related to certain stressors (i.e., child behavior problems) and vulnerabilities (i.e., parent depression), yet it falls short in exploring mechanisms by which these factors beget marital dysfunction (i.e., through adaptive processes). Additional gaps and methodological limitations in the literature are highlighted, and recommendations for future research are provided.
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21. Su WC, Culotta M, Mueller J, Tsuzuki D, Pelphrey K, Bhat A. {{Differences in cortical activation patterns during action observation, action execution, and interpersonal synchrony between children with or without autism spectrum disorder (ASD): An fNIRS pilot study}}. {PLoS One}. 2020; 15(10): e0240301.
Engaging in socially embedded actions such as imitation and interpersonal synchrony facilitates relationships with peers and caregivers. Imitation and interpersonal synchrony impairments of children with Autism Spectrum Disorder (ASD) might contribute to their difficulties in connecting and learning from others. Previous fMRI studies investigated cortical activation in children with ASD during finger/hand movement imitation; however, we do not know whether these findings generalize to naturalistic face-to-face imitation/interpersonal synchrony tasks. Using functional near infrared spectroscopy (fNIRS), the current study assessed the cortical activation of children with and without ASD during a face-to-face interpersonal synchrony task. Fourteen children with ASD and 17 typically developing (TD) children completed three conditions: a) Watch-observed an adult clean up blocks; b) Do-cleaned up the blocks on their own; and c) Together-synchronized their block clean up actions to that of an adult. Children with ASD showed lower spatial and temporal synchrony accuracies but intact motor accuracy during the Together/interpersonal synchrony condition. In terms of cortical activation, children with ASD had hypoactivation in the middle and inferior frontal gyri (MIFG) as well as middle and superior temporal gyri (MSTG) while showing hyperactivation in the inferior parietal cortices/lobule (IPL) compared to the TD children. During the Together condition, the TD children showed bilaterally symmetrical activation whereas children with ASD showed more left-lateralized activation over MIFG and right-lateralized activation over MSTG. Additionally, using ADOS scores, in children with ASD greater social affect impairment was associated with lower activation in the left MIFG and more repetitive behavior impairment was associated with greater activation over bilateral MSTG. In children with ASD better communication performance on the VABS was associated with greater MIFG and/or MSTG activation. We identified objective neural biomarkers that could be utilized as outcome predictors or treatment response indicators in future intervention studies.
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22. Tromans S, Kinney M, Chester V, Alexander R, Roy A, Sander JW, Dudson H, Shankar R. {{Priority concerns for people with intellectual and developmental disabilities during the COVID-19 pandemic}}. {BJPsych open}. 2020; 6(6): e128.
BACKGROUND: The approach taken to support individuals during the coronavirus disease 2019 (COVID-19) pandemic needs to take into account the requirements of people with intellectual disabilities and/or autism, who represent a major vulnerable group, with higher rates of co-occurring health conditions and a greater risk of dying prematurely. To date, little evidence on COVID-related concerns have been produced and no report has provided structured feedback from the point of view of people with intellectual disabilities and/or autism or of their family/carers. AIMS: To provide systemised evidence-based information of the priority concerns for people with intellectual disabilities and/or autism regarding the COVID-19 pandemic. METHOD: Senior representatives of major UK-based professional and service-user representative organisations with a stake in the care of people with intellectual disabilities and/or autism were contacted to provide a list of concerns across three domains: ‘mental health and challenging behaviour’, ‘physical health and epilepsy’ and ‘social circumstances and support’. The feedback was developed into statements on frequently reported priorities. These statements were then rated independently by expert clinicians. A video-conference meeting to reconcile outliers and to generate a consensus statement list was held. RESULTS: Thirty-two organisations were contacted, of which 26 (81%) replied. From the respondent’s data, 30 draft consensus statements were generated. Following expert clinician review, there was initially strong consensus for seven statements (23%), increasing to 27 statements (90%) following video conferencing. CONCLUSIONS: These recommendations highlight the expectations of people with intellectual disabilities and/or autism in the current pandemic. This could support policymakers and professionals’ deliver and evidence person-centred care.
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23. 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.
