1. C TP, Reisert H, Adesman A. Wandering behavior in children with autism spectrum disorder and other developmental disabilities. Current opinion in pediatrics. 2021; 33(4): 464-70.

PURPOSE OF REVIEW: Approximately one in four children with autism spectrum disorder (ASD) ‘elope’ or wander away from supervision each year; however, many caregivers do not receive adequate information on how to address wandering behavior. The purpose of this review is to summarize the available research on elopement frequency, wandering patterns, and interventions to provide pediatricians and other childcare professionals with appropriate strategies to address wandering behavior. RECENT FINDINGS: Despite the high prevalence of wandering by children with ASD or other developmental disabilities, there is relatively limited research in this area. Recent research has identified common patterns and factors associated with risk of elopement and elopement frequency. SUMMARY: Pediatricians should counsel families on the common issues and intervention strategies related to elopement. By increasing awareness of wandering in children with ASD, caregivers can feel better prepared to make informed decisions regarding their child’s wellbeing and safety.

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2. Carstens KE, Lustberg DJ, Shaughnessy EK, McCann KE, Alexander GM, Dudek SM. Perineuronal net degradation rescues CA2 plasticity in a mouse model of Rett syndrome. The Journal of clinical investigation. 2021; 131(16).

Perineuronal nets (PNNs), a specialized form of extracellular matrix, are abnormal in the brains of people with Rett syndrome (RTT). We previously reported that PNNs function to restrict synaptic plasticity in hippocampal area CA2, which is unusually resistant to long-term potentiation (LTP) and has been linked to social learning in mice. Here we report that PNNs appear elevated in area CA2 of the hippocampus of an individual with RTT and that PNNs develop precociously and remain elevated in area CA2 of a mouse model of RTT (Mecp2-null). Further, we provide evidence that LTP could be induced at CA2 synapses prior to PNN maturation (postnatal day 8-11) in wild-type mice and that this window of plasticity was prematurely restricted at CA2 synapses in Mecp2-null mice. Degrading PNNs in Mecp2-null hippocampus was sufficient to rescue the premature disruption of CA2 plasticity. We identified several molecular targets that were altered in the developing Mecp2-null hippocampus that may explain aberrant PNNs and CA2 plasticity, and we discovered that CA2 PNNs are negatively regulated by neuronal activity. Collectively, our findings demonstrate that CA2 PNN development is regulated by Mecp2 and identify a window of hippocampal plasticity that is disrupted in a mouse model of RTT.

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3. Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen M, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. European journal of medical genetics. 2021; 64(9): 104280.

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

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4. Gliga T, Skolnick A, Liersch U, Charman T, Johnson MH, Bedford R. Investigating the Mechanisms Driving Referent Selection and Retention in Toddlers at Typical and Elevated Likelihood for Autism Spectrum Disorder. Journal of child language. 2021: 1-13.

It was suggested that children’s referent selection may not lay memory traces sufficiently strong to lead to retention of new word-object mappings. If this was the case we expect incorrect selections to be easily rectified through feedback. Previous work suggested this to be the case in toddlers at typical likelihood (TL) but not in those at elevated likelihood (EL) for autism spectrum disorder (ASD) (Bedford et al., 2013). Yet group differences in lexical knowledge may have confounded these findings. Here, TL (N = 29) and EL toddlers (N = 75) chose one of two unfamiliar objects as a referent for a new word. Both groups retained the word-referent mapping above chance when their choices were immediately reinforced but were at chance after corrective feedback. The same pattern of results was obtained when children observed another experimenter make the initial referent choice. Thus, children’s referent choices lay memory traces that compete with subsequent correction; these strong word-object associations are not a result of children actively choosing potential referents for new words.

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5. Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P. Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation. Journal of molecular neuroscience : MN. 2021; 71(12): 2474-81.

X-linked intellectual disability can be diagnosed in about 10-12% of intellectually disabled males. In the past, mutations affecting the PAK3 gene (p21 protein-activated kinase 3, MIM#300142) have been associated with a non-syndromic form of X-linked intellectual disability, which has to date been identified in a limited number of families.Since this neurodevelopmental disorder mostly afflicts males, descriptions of symptomatic female carriers are quite rare.We describe a female patient with neurodevelopmental delay and a novel PAK3 variant. Interestingly, she manifests craniofacial anomalies, including microcephaly, representing the second reported microcephalic female but the first for whom a detailed clinical description is available. She also displays other uncommon clinical findings, which we illustrate.Moreover, a comprehensive clinical and molecular review of all to date published patients has been made. This study contributes to further delineate the PAK3-related phenotype, which can be considered a non-syndromic X-linked intellectual disability, with seemingly recurrent craniofacial abnormalities.

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6. R VANR, Ward EK, M DEJ, Kemner C, Junge C. Two-year-olds at elevated risk for ASD can learn novel words from their parents. Journal of child language. 2021: 1-12.

Children diagnosed with autism spectrum disorder (ASD) often have smaller vocabularies in infancy compared to typically-developing children. To understand whether their smaller vocabularies stem from problems in learning, our study compared a prospective risk sample of 18 elevated risk and 11 lower risk 24-month-olds on current vocabulary size and word learning ability using a paradigm in which parents teach their child words. Results revealed that both groups learned novel words, even though parents indicated that infants at elevated risk of ASD knew fewer words. This suggests that these early compromised vocabularies cannot be solely linked to difficulties in word formations.

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7. Rødgaard EM, Jensen K, Miskowiak KW, Mottron L. Autism comorbidities show elevated female-to-male odds ratios and are associated with the age of first autism diagnosis. Acta psychiatrica Scandinavica. 2021; 144(5): 475-86.

OBJECTIVE: To investigate the association between the comorbidity rates in autism and sex, birth year and the age at which autism was first diagnosed and compare the relative impact of each. METHOD: Using the Danish National Patient Registry, cumulative incidences up to the age of 16 for 11 comorbid conditions (psychosis, affective disorders, anxiety disorders, conduct disorder, eating disorders, obsessive-compulsive disorder, attention-deficit hyperactivity disorder, epilepsy, tic disorders, sleep disorders or intellectual disability) were calculated for individuals with autism (N = 16,126) and non-autism individuals (N = 654,977). Individuals were further stratified based on the age at the first autism diagnoses and comorbid diagnoses up to the age of 16 were compared. RESULTS: Most comorbidities were significantly associated with birth year and sex. Female/male odds ratios for 8 of 11 comorbid conditions were up to 67% higher than the corresponding odds ratios in the non-autism population, including conditions that are generally more common in males than in females as well as conditions that are more common in females. All comorbidity rates were significantly associated with the age at the first autism diagnosis, which was a stronger predictor than sex and birth year for 8 conditions. CONCLUSIONS: Comorbidity rates for females exceed what would be expected based on the sex ratios among non-autistic individuals, indicating that the association between autism and comorbidity is stronger in females. Comorbidity rates are also highly dependent on the age at the first autism diagnosis, which may contribute to autism heterogeneity in research and clinical practice.

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8. Rozenkrantz L, D’Mello AM, Gabrieli JDE. Enhanced rationality in autism spectrum disorder. Trends in cognitive sciences. 2021; 25(8): 685-96.

Challenges in social cognition and communication are core characteristics of autism spectrum disorder (ASD), but in some domains, individuals with ASD may display typical abilities and even outperform their neurotypical counterparts. These enhanced abilities are notable in the domains of reasoning, judgment and decision-making, in which individuals with ASD often show ‘enhanced rationality’ by exhibiting more rational and bias-free decision-making than do neurotypical individuals. We review evidence for enhanced rationality in ASD, how it relates to theoretical frameworks of information processing in ASD, its implications for basic research about human irrationality, and what it may mean for the ASD community.

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9. Spaniol MM, Mevorach C, Shalev L, Teixeira M, Lowenthal R, de Paula CS. Attention training in children with autism spectrum disorder improves academic performance: A double-blind pilot application of the computerized progressive attentional training program. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1769-76.

Atypical attention has been reported in individuals with autism spectrum disorder (ASD) with studies pointing to an increase in attention deficit and hyperactivity disorder-like symptomatology. Individuals with ASD may also present academic difficulties and it is possible that they face a double-barrier for academic attainment from both core ASD symptomatology and from attention atypicalities, which are directly linked to academic performance. This raises the possibility that academic difficulties in ASD may benefit from cognitive training targeting attention. To test this possibility, we used the computerized progressive attentional training (CPAT) intervention in a double-blind, active control with follow-up intervention study in Brazil. The CPAT is a computerized attention training program that was recently piloted with schoolchildren with ASD in the UK. Twenty-six participants (8-14 years) with ASD in the São Paulo’s ASD Reference Unit were assigned to either the CPAT (n = 14) or active control group (n = 12), which were matched at baseline. Two 45-min intervention sessions per week were conducted over a 2-month period. School performance, attention, fluid intelligence, and behavior were assessed before, immediately after and 3 months following the intervention. Significant group by time interactions show improvements in math, reading, writing and attention that were maintained at follow-up for the CPAT (but not the active control) group, while parents of children from both groups tended to report behavioral improvements. We conclude that attention training has the potential to reduce obstacles for academic attainment in ASD. Combined with the previous pilot study, the current results point to the generality of the approach, which leads to similar outcomes in different cultural and social contexts. LAY ABSTRACT: Attention difficulties tend to occur in ASD and are linked to academic performance. In this study, we demonstrate that school performance in math, reading and writing in children with ASD can improve following an intervention that trains basic attention skills (the CPAT intervention). The improvements we report are stable and were maintained 3-months following the intervention. This study, which was conducted in a public-health setting in Brazil, extends previous research in schools in the UK pointing to the cross-cultural and cross-settings efficacy of the intervention.

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10. Varadarajan S, Govindarajan Venguidesvarane A, Ramaswamy KN, Rajamohan M, Krupa M, Winfred Christadoss SB. Prevalence of excessive screen time and its association with developmental delay in children aged <5 years: A population-based cross-sectional study in India. PloS one. 2021; 16(7): e0254102.

The global growth of electronic media usage among children has caused concerns regarding screen time (ST) impact on child development. No previous population-based studies have evaluated ST and child development in India. This study aimed to determine the burden of ST, associated sociodemographic factors, and its impact on domains of child development. A population-based cross-sectional study was conducted in the field practice area of rural and urban health centers in Tamil Nadu, India. A total of 718 children (396 rural and 322 urban) were selected, using a cluster random sampling method. ST estimates were obtained from parents/guardian after a 7-day observation period. The Communication DEALL Developmental Checklist was used to assess child development. The mean ST was 2.39 hours/day (95% confidence interval [CI]: 2.23-2.54), and the prevalence of excessive ST was 73% (95% CI: 69.2-76.8). Excessive ST was significantly associated with the mothers’ ST, screen usage at bedtime, birth order (in children < 2 years), and attending school (in children ≥ 2 years). Increased ST was significantly associated with developmental delay, in particular, in the domains of language acquisition and communication. In children aged ≥ 2 years, a delay in ≥ 3 domains was associated with ST (adjusted odds ratio [AOR] = 17.75, 95% CI: 5.04-62.49, p < 0.001), as was language delay (AOR = 52.92, 95% CI: 12.33-227.21, p < 0.001). In children aged < 2 years, a delay in ≥ 2 domains was associated with ST (AOR = 16.79, 95% CI: 2.26-124.4, p < 0.001), as was language delay (AOR = 20.93, 95% CI: 2.68-163.32, p < 0.01). A very high prevalence of excessive ST was identified, with a significant association with developmental delay in children. There is an urgent need to include education on ST limits at the primary healthcare level.

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11. Wagle S, Ghosh A, Karthic P, Ghosh A, Pervaiz T, Kapoor R, Patil K, Gupta N. Development and testing of a game-based digital intervention for working memory training in autism spectrum disorder. Scientific reports. 2021; 11(1): 13800.

Autism spectrum disorder (ASD) is prevalent globally, yet it lacks cost-effective treatment approaches. Deficits in executive functions occur frequently in autism spectrum disorder and present a target for intervention. Here we report the design and development of five smartphone-based games for training working memory in children with ASD. These open-source games, available free of cost to the community, were designed to match the behavioral preferences and sensorimotor abilities of children with ASD. We then conducted a preliminary trial to test the effectiveness of a month-long intervention using these games. Although we did not see a significant change in the working memory of all children with a month-long training, children who performed better on the games also showed more improvement in their working memory, suggesting that a longer intervention with the games might be useful in improving working memory. Using a Hindi translation of the autism treatment evaluation checklist, we also tested the collateral gains of the training in reducing autistic symptoms. We found no significant change in the autistic symptoms after the intervention. Further, there was no correlation between the change in the working memory and the change in the autistic symptoms.

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