Pubmed du 18/09/21
1. Amir N, Mitra M, Leung K, Moore Simas TA. Complications following hysterectomy in women with intellectual and developmental disabilities. Disability and health journal. 2022; 15(1): 101213.
BACKGROUND: Limited data exist on complications following hysterectomy among women with intellectual and developmental disabilities (IDD). OBJECTIVE: The objective was to assess the frequencies of postoperative complications in women with IDD following hysterectomy. METHODS: The National Inpatient Sample from 2014 to 2017 was queried using codes from the International Classification of Disease 9th and 10th revisions to identify women over 15 years of age with a diagnosis of an IDD undergoing hysterectomy. Comparisons were made to women without IDD undergoing the same procedure. Logistic regression analysis was performed to examine between group differences in the frequency of clinical post-surgical complications while adjusting for potential confounding variables. RESULTS: Of eligible women undergoing hysterectomy, 1,370 were identified as having IDD and 624,700 did not. Compared to controls, women with IDD were significantly younger (45 vs. 50 years, p < 0.001). Women with IDD were also more likely to have had governmental health insurance (83% vs. 34%, p < 0.001), an open hysterectomy approach (78% vs. 69%, p = 0.002), and longer hospital stays (4 vs. 3 days, p < 0.001). After adjusting for potential confounders, women with IDD had greater odds of postoperative urinary complications (OR 3.74, 95% CI 1.18-11.83) and complications related to decubitus ulcer formation (OR 8.97, 95% CI 2.10-38.36). CONCLUSIONS: Women with IDD have increased odds having urinary and decubitus ulcer complications following hysterectomy, compared to women without IDD. These results inform surgical decision-making and anticipatory guidance for these women and their caregivers.
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2. Arnold ML, Saijo K. Estrogen Receptor β as a Candidate Regulator of Sex Differences in the Maternal Immune Activation Model of ASD. Frontiers in molecular neuroscience. 2021; 14: 717411.
Interestingly, more males are diagnosed with autism spectrum disorder (ASD) than females, yet the mechanism behind this difference is unclear. Genes on the sex chromosomes and differential regulation by sex steroid hormones and their receptors are both candidate mechanisms to explain this sex-dependent phenotype. Nuclear receptors (NRs) are a large family of transcription factors, including sex hormone receptors, that mediate ligand-dependent transcription and may play key roles in sex-specific regulation of immunity and brain development. Infection during pregnancy is known to increase the probability of developing ASD in humans, and a mouse model of maternal immune activation (MIA), which is induced by injecting innate immune stimulants into pregnant wild-type mice, is commonly used to study ASD. Since this model successfully recaptures the behavioral phenotypes and male bias observed in ASD, we will discuss the potential role of sex steroid hormones and their receptors, especially focusing on estrogen receptor (ER)β, in MIA and how this signaling may modulate transcription and subsequent inflammation in myeloid-lineage cells to contribute to the etiology of this neurodevelopmental disorder.
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3. Kameyama S, Mizuguchi T, Fukuda H, Moey LH, Keng WT, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Miyatake S, Matsumoto N. Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. Journal of human genetics. 2022; 67(3): 169-73.
Biallelic variants in ZNF142 at 2q35, which encodes zinc-finger protein 142, cause neurodevelopmental disorder with seizures or dystonia. We identified compound heterozygous null variants in ZNF142, NM_001105537.4:c.[1252C>T];[1274-2A>G],p.[Arg418*];[Glu426*], in Malaysian siblings suffering from global developmental delay with epilepsy and dysmorphism. cDNA analysis showed the marked reduction of ZNF142 transcript level through nonsense-mediated mRNA decay by these novel biallelic variants. The affected siblings present with global developmental delay and epilepsy in common, which were previously described, as well as dysmorphism, which was not recognized. It is important to collect patients with ZNF142 abnormality to define its phenotypic spectrum.
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4. Keehn B, Kadlaskar G, Bergmann S, McNally Keehn R, Francis A. Attentional Disengagement and the Locus Coeruleus – Norepinephrine System in Children With Autism Spectrum Disorder. Frontiers in integrative neuroscience. 2021; 15: 716447.
BACKGROUND: Differences in non-social attentional functions have been identified as among the earliest features that distinguish infants later diagnosed with autism spectrum disorder (ASD), and may contribute to the emergence of core ASD symptoms. Specifically, slowed attentional disengagement and difficulty reorienting attention have been found across the lifespan in those at risk for, or diagnosed with, ASD. Additionally, the locus coeruleus-norepinephrine (LC-NE) system, which plays a critical role in arousal regulation and selective attention, has been shown to function atypically in ASD. While activity of the LC-NE system is associated with attentional disengagement and reorienting in typically developing (TD) individuals, it has not been determined whether atypical LC-NE activity relates to attentional disengagement impairments observed in ASD. OBJECTIVE: To examine the relationship between resting pupil diameter (an indirect measure of tonic LC-NE activation) and attentional disengagement in children with ASD. METHODS: Participants were 21 school-aged children with ASD and 20 age- and IQ-matched TD children. The study consisted of three separate experiments: a resting eye-tracking task and visual and auditory gap-overlap paradigms. For the resting eye-tracking task, pupil diameter was monitored while participants fixated a central crosshair. In the gap-overlap paradigms, participants were instructed to fixate on a central stimulus and then move their eyes to peripherally presented visual or auditory targets. Saccadic reaction times (SRT), percentage of no-shift trials, and disengagement efficiency were measured. RESULTS: Children with ASD had significantly larger resting pupil size compared to their TD peers. The groups did not differ for overall SRT, nor were there differences in SRT for overlap and gap conditions between groups. However, the ASD group did evidence impairments in disengagement (larger step/gap effects, higher percentage of no-shift trials, and reduced disengagement efficiency) compared to their TD peers. Correlational analyses showed that slower, less efficient disengagement was associated with increased pupil diameter. CONCLUSION: Consistent with prior reports, children with ASD show significantly larger resting pupil diameter, indicative of atypically elevated tonic LC-NE activity. Associations between pupil size and measures of attentional disengagement suggest that atypically increased tonic activation of the LC-NE system may be associated with poorer attentional disengagement in children with ASD.
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5. Lippa NC, Barua S, Aggarwal V, Pereira E, Bain JM. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report. BMC neurology. 2021; 21(1): 358.
BACKGROUND: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected females with de novo variants were described. (Clin Genet 98:43-55, 2020) Four individuals had a protein truncating variant and 1 individual had a missense variant. All five individuals had developmental delay/intellectual disability and three neurological features. CASE PRESENTATION: Here we report a three-year-old female with global developmental delay, hypotonia and ataxia. Through whole exome sequencing, a de novo c.1516A > G (p.Met506Val) variant in KDM5C was identified. This missense variant is in the jumonji-C domain of this multi domain protein where other missense variants have been previously reported in KDM5C related disorder. The KDM5C gene is highly intolerant to functional variation which suggests its pathogenicity. The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in KDM5C. However, other features reported in females (distinctive facial features, skeletal abnormalities, short stature and endocrine features) were absent. To the best of our knowledge, our proband is the first female patient reported with a diagnosis of ataxia. CONCLUSIONS: This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of KDM5C in females with neurodevelopmental disorders as well as movement disorders.
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6. Lucena R, de Melo-Carneiro P, Sampaio AS, de Almeida NR, Ponte AMV, de Brito Wanderley D, de Mattos AM, Robatto AP, Argollo N. Adults With Autism Should be Considered a Priority in COVID-19 Immunization Programs. Journal of autism and developmental disorders. 2021: 1-2.
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7. Márquez-Caraveo ME, Rodríguez-Valentín R, Pérez-Barrón V, Vázquez-Salas RA, Sánchez-Ferrer JC, De Castro F, Allen-Leigh B, Lazcano-Ponce E. Children and adolescents with neurodevelopmental disorders show cognitive heterogeneity and require a person-centered approach. Scientific reports. 2021; 11(1): 18463.
We aimed to identify patterns of cognitive differences and characterize subgroups of Mexican children and adolescents with three neurodevelopmental disorders (NDD): intellectual disability (ID), autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD). The sample included 74 children and adolescents 6-15 years; 34% had ID, ASD or ADHD, 47% had ID in comorbidity with ASD, ADHD or both, 11% had ASD + ADHD, 8% were children without NDD. We applied WISC-IV, Autism Diagnostic Interview-Revised, Mini-International Neuropsychiatric Structured Interview, Child Behavior Checklist, and UNICEF Child Functioning Module. We evaluated the normality of the WISC-IV sub-scales using the Shapiro-Francia test, then conducted a latent class analysis and assessed inter-class differences in terms of household, parent and child characteristics. The following four-class solution best fit the data: « Lower Cognitive Profile » (LCP), « Lower Working Memory » (LWM), « Higher Working Memory » (HWM), « Higher Cognitive Profile » (HCP). LCP included most of the children with ID, who had a low Working Memory (WM) index score. LWM included mainly children with ASD or ID + ADHD; their Perceptual Reasoning (PR) and Processing Speed (PS) index scores were much higher than those for Verbal Comprehension (VC) and WM. HWM included children with ASD or ADHD; their scores for PR, PS and VC were high with lower WM (although higher than for LWM). HCP included children without NDD and with ASD or ADHD or both and had the highest scores on all indices. Children with NDD show cognitive heterogeneity and thus require individualized treatment plans.
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8. Marrus N, Turner TN, Forsen E, Bolster D, Marvin A, Whitehouse A, Klinger L, Gurnett CA, Constantino JN. Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk. Journal of neurodevelopmental disorders. 2021; 13(1): 39.
BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study.
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9. Meermeier A, Jording M, Alayoubi Y, Vogel DHV, Vogeley K, Tepest R. Brief Report: Preferred Processing of Social Stimuli in Autism: A Perception Task. Journal of autism and developmental disorders. 2021.
In this study we investigate whether persons with autism spectrum disorder (ASD) perceive social images differently than control participants (CON) in a graded perception task in which stimuli emerged from noise before dissipating into noise again. We presented either social stimuli (humans) or non-social stimuli (objects or animals). ASD were slower to recognize images during their emergence, but as fast as CON when indicating the dissipation of the image irrespective of its content. Social stimuli were recognized faster and remained discernable longer in both diagnostic groups. Thus, ASD participants show a largely intact preference for the processing of social images. An exploratory analysis of response subsets reveals subtle differences between groups that could be investigated in future studies.
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10. Mouga S, Duarte IC, Café C, Sousa D, Duque F, Oliveira G, Castelo-Branco M. Attentional Cueing and Executive Deficits Revealed by a Virtual Supermarket Task Coupled With Eye-Tracking in Autism Spectrum Disorder. Frontiers in psychology. 2021; 12: 671507.
Executive functioning (EF) impairments in Autism Spectrum Disorder (ASD) impact on complex functions, such as social cognition. We assessed this link between EF, attentional cueing, and social cognition with a novel ecological task, « EcoSupermarketX. » Our task had three blocks of increasing executive load and incorporated social and non-social cues, with different degrees of saliency. Performance of ASD and typical neurodevelopment was compared. The ASD showed a significant performance dependence on the presence of contextual cues. Difficulties increased as a function of cognitive load. Between-group differences were found both for social and non-social salient cues. Eye-tracking measures showed significantly larger fixation time of more salient social cues in ASD. In sum, EcoSupermarketX is sensitive to detect EF and attentional cueing deficits in ASD.
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11. Sapey-Triomphe LA, Weilnhammer VA, Wagemans J. Associative learning under uncertainty in adults with autism: Intact learning of the cue-outcome contingency, but slower updating of priors. Autism : the international journal of research and practice. 2021: 13623613211045026.
We have an internal representation of the world that guides our behavior, helps us predicting what comes next and therefore, reducing uncertainty. For instance, after hearing the noise of a door opening, we usually expect to see a person appearing, whose features differ depending on the context. In this example of associative learning, predictions need to be adjusted if there is a change in the environment (e.g. different person depending on the location). Recent theories suggest that the symptoms encountered in autism could be due to an atypical learning of predictions or to a decreased influence of these expectations on perception. Here, we conducted an experiment assessing whether adults with autism could learn and adjust their predictions in a changing environment. Throughout a behavioral task, participants learned to associate a sound with a visual outcome, but this association could sometimes reverse. Results showed that autistic adults could learn to make predictions that fitted the main sound-vision association, but were slower to adapt their expectations when there was an unannounced change in the environment. We also observed that both adults with and without autism tended to be biased by their expectations, as they reported seeing what they expected to see rather than what was actually shown. Altogether, our results indicate that autistic adults can learn predictions but are more inflexible to adjust these predictions in a changing environment. These results help refining recent theories of autism (called « predictive coding » theories), which intend to identify the core mechanisms underlying the autistic symptomatology.
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12. Shui AM, Richdale AL, Katz T. Evaluating sleep quality using the CSHQ-Autism. Sleep medicine. 2021; 87: 69-76.
BACKGROUND: Sleep problems are common in autistic children and adversely impact daytime functioning. The Children’s Sleep Habits Questionnaire (CSHQ) [39] was developed from a community-based sample of children and has validated a cut-off score of 41. Katz et al. [50] developed an abbreviated 23-item four-factor version of the CSHQ, which may be useful when assessing sleep in autistic children. However, a cut-off value has not yet been developed. OBJECTIVE: Our objective was to develop and validate a cut-off for the CSHQ-autism total score in order to identify sleep problems among autistic children. We hypothesized that the derived cut-off value for the CSHQ-autism would perform better than the original CSHQ cut at 41 on validation in a sample of autistic children. METHODS: Age-specific cut-off values were developed and validated using receiver operating characteristic analysis. RESULTS: The derived cut-off values for the CSHQ-autism total score were 34, 35, 33, and 35 for the 2-3, 4-10, 11-17, and 2-17 years age groups, respectively. On validation, all cut-off values performed with moderate to high sensitivity (76.6-82.4%) and moderate specificity (69.1-75.5%), while the original CSHQ cut at 41 had high sensitivity (89.9-93.0%) but low specificity (42.6-57.7%). Using McNemar’s tests, the CSHQ-autism had significantly higher specificity but lower sensitivity than the original CSHQ cut at 41 in all age groups. CONCLUSIONS: The CSHQ-autism cut-off values performed better overall than the original CSHQ cut at 41 in a sample of autistic children. The CSHQ-autism cut-off can help identify sleep problems among autistic children.
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13. Straiton D, Sridhar A. Short report: Call to action for autism clinicians in response to anti-Black racism. Autism : the international journal of research and practice. 2022; 26(4): 988-94.
Black autistic people experience anti-Black racism when interacting with service systems and the clinicians in those systems. In this article, we describe the various steps families take to get services and how anti-Black racism makes that process even harder. We discuss research that shows the negative effects of anti-Black racism in autism assessment, treatment, and quality of care. We then provide five recommendations that clinicians should follow to reduce anti-Black racism in the autism field: (1) find Black autistic people and listen to their opinions about your organization, (2) always keep learning about how your profession promotes anti-Black racism, (3) recognize that the process of a clinician learning to be culturally humble takes time and is never « complete, » (4) pay attention to all of the steps that families must take to receive autism services and how these steps are even harder for Black individuals, and (5) advocate for your organization to make systems-level changes in their policies and procedures.
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14. Tsirgiotis JM, Young RL, Weber N. Sex/Gender Differences in CARS2 and GARS-3 Item Scores: Evidence of Phenotypic Differences Between Males and Females with ASD. Journal of autism and developmental disorders. 2021.
Growing evidence suggests that autistic females are more likely to be diagnostically overlooked than males, perhaps due to differences in ASD presentations (van Wijngaarden-Cremers in JAMA 44:627-635, 2014). To investigate specific behaviours in which differences lie, we analysed profiles of 777 children using the Childhood Autism Rating Scale (Scholper in JAMA 29:489-493, 2010) or Gilliam Autism Rating Scale (Gilliam, 2014). Males demonstrated greater difficulty in six CARS2-ST items and seven behaviours on the GARS-3, mostly reflecting restricted and repetitive behaviours. Across all instruments, the only area in which females showed greater difficulty was fear or nervousness (CARS2-ST). No meaningful differences emerged from the CARS2-HF analysis. Where males showed greater difficulty, females were more likely to present with developmentally typical behaviour.
