Pubmed du 06/12/22

Pubmed du jour

1. Barger B, Larson LR, Torquati J, Moody E, Ogletree S, Rosenberg S. The complex relationship between greenspace and well-being in children with and without autism. Appl Psychol Health Well Being;2022 (Oct 4)

Greenspace (defined here as canopy coverage) positively correlates with improved well-being in typically developing individuals, but this relationship has not been established in children with autism spectrum disorder (ASD). To investigate this relationship, the current study merged data from the National Survey of Children’s Health (2012) with the National Land Cover Database. Across typically developing children, children with ASD, and non-autistic children with special healthcare needs (CSHCN), greenspace unexpectedly negatively correlated with well-being. Further, compared with typically developing children, children with ASD or CSHCN status had lower well-being. Interestingly, typically developing children with conduct problems displayed an unexpected negative relationship (i.e. as greenspace increased whereas well-being decreased), though those without conduct problems showed no relationship. Children with ASD displayed no relationship between greenspace independent of conduct problems. CSHCN displayed non-significant trends suggesting mild positive relationships between greenspace and well-being. These data indicate the relationship between greenspace and well-being is more complex than expected and may depend on the diagnostic traits of the population studied.

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2. Beiting M. Diagnosis and Treatment of Childhood Apraxia of Speech Among Children With Autism: Narrative Review and Clinical Recommendations. Lang Speech Hear Serv Sch;2022 (Oct 6);53(4):947-968.

PURPOSE: Treatment for children with autism spectrum disorder (ASD) and low verbal ability is a largely neglected area of study. Existing research focuses on language abilities; however, a subset of children with ASD also has speech sound disorders (SSDs). The purpose of this tutorial is to provide clinicians with evidence-based recommendations to guide speech assessment and treatment among children with ASD, low verbal ability, and suspected childhood apraxia of speech (CAS). METHOD: Multifaceted search procedures were used to identify studies that have assessed or treated speech sound production among children with ASD. A narrative review and synthesis of the literature is followed by practical clinical recommendations based on best available evidence. CONCLUSIONS: It is critically important to consider all possible hindrances to the development of functional communication ability for children with ASD. Speech sound production has been identified as a key predictor of expressive language outcomes, yet there are very few studies that address assessment and treatment of SSDs among children with ASD. Less is known about the presentation of CAS among children with ASD and low verbal ability. More research is needed to determine whether existing speech assessment and treatment methods are appropriate for children with ASD, if modifications are needed, or if new methods should be designed.

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3. Bettencourt C, Garret-Gloanec N, Pellerin H, Péré M, Squillante M, Roos-Weil F, Ferrand L, Pernel AS, Apter G, Cohen D. Migration is associated with baseline severity and progress over time in autism spectrum disorder: Evidence from a French prospective longitudinal study. PLoS One;2022;17(10):e0272693.

BACKGROUND: The prevalence of autism-spectrum disorder (ASD) has been shown to be higher in migrant families, but it is also a challenge for health care professionals to offer adequate services to families that face multiple challenges. In the context of the EPIGRAM study (a French prospective, multisite, longitudinal observational study implementing integrative care practices (ICPs) for children with ASD), we aimed to assess the impact of migration on children with ASD. METHOD AND FINDINGS: 89 children with ASD aged 3 to 6 years old (92% males) were recruited and followed up for 12 months. The children were clinically assessed using several instruments. At baseline, children had severe autism on average on the Children Autism Rating Scale (CARS, mean = 44; SD = 6.51) and moderate autism on the PsychoEducational profile-3-R (PEP-3-R) maladaptive behavior category (mean = 30; SD = 29.89). Thirty percent of the families had a low socio-economic status, and 56% were first-generation immigrants. For all clinical variables, children of immigrant parents had more severe autism and developmental delays at baseline. A linear mixed model established an improvement in all clinical characteristics over the 12 months of the study. This trend may be attributed to ICPs or any naturally occurring event during that period. Families shared this positive view over time. However, the improvements were slower for two clinical dimensions of the PEP-3-R in children from migrant families. For the inappropriate behavior category, the time effect diminished by an average of 0.83 percentile/month for children whose parents were migrants vs. children whose parents were non-migrants. Similarly, for verbal behavior characteristics, the time effect diminished by an average of 1.32 percentile/month for children whose parents were migrants vs. children whose parents were non-migrants. CONCLUSION: Despite an overall positive improvement, we found that migration is associated baseline severity and progress over time in children with ASD. There is an urgent need to target the migrant population with specific research and understand the avenues that carry such higher severity. CLINICAL TRIAL REGISTRATION: Study registration on clinicaltrials.gov under the number NCT02154828.

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4. Biller MF, Yeager KA. Lexical Acquisition and Phonological Development in Minimally Verbal Children With Autism Spectrum Disorders. Lang Speech Hear Serv Sch;2022 (Oct 6);53(4):1074-1087.

PURPOSE: This study examines two components of lexical acquisition and phonological development that occur during the first 50-word stage of language development in neurotypical (NT) children. One component is how children learn words based on their existing speech sound inventories (i.e., in-phonology and out-of-phonology word learning). The other component is the relationship between the children’s number of words and the number of phonemes in their speech sound inventories. The goal of this study is to determine if the same two components occur in children with autism spectrum disorders (ASDs) who are older than their NT peers but are in the same stage of lexical development. METHOD: This study involved 20 minimally verbal children with ASDs, ages 28-72 months, who produced five to 50 spoken words. The children’s spoken words were obtained from the MacArthur-Bates Communicative Development Inventories. The speech sound inventories were obtained from the utterances produced during assessment/play sessions with the children. The children’s spoken words from the Communicative Development Inventories (CDI) were categorized as either in-phonology or out-of-phonology based on whether the words began with a phoneme in the child’s existing speech sound inventory. Additionally, the children’s number of spoken words on the CDI was compared to the number of phonemes in their speech sound inventories. RESULTS: The children in this study produced in-phonology words more often than out-of-phonology words (z = -3.922; p < .001). Moreover, there was a moderate positive correlation between the children's number of spoken words and the number of phonemes in their speech sound inventories (r = .534, p = .019). CONCLUSIONS: The relationship between lexical acquisition and phonological development appears to exist for the children in this study, who are in the first 50-word stage of development. Clinical implications for increasing the expressive language of children with ASDs were discussed.

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5. Bolbocean C, Rhidenour KB, McCormack M, Suter B, Holder JL. Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family’s quality of life and parent-child relationships. Autism Res;2022 (Oct 4)

Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak’s impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families’ resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. LAY SUMMARY: Despite challenges imposed by the COVID-19 outbreak, our study found that the quality of life reported by participating families during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. The COVID-19 pandemic and related lockdowns were found to be positively associated with parent-child bonding, relational satisfaction, and increased emotional connection between parents and their children. Our findings provide evidence of families’ resilience which might explain the presence of positive parental-child interactions during COVID-19.

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6. Guan W, Tang B, Wang QF. A practical study regarding the effect of adaptive roller-skating on emotion regulation ability of autistic children. Eur Rev Med Pharmacol Sci;2022 (Sep);26(18):6487-6496.

OBJECTIVE: Our aim is to analyze the effect of adaptive roller-skating on emotional regulation of autistic children. MATERIALS AND METHODS: Adaptive roller-skating course was designed for autistic children based on adaptive sports and A-B-A experiments. RESULTS: The adaptive roller-skating intervention focuses on improving emotional regulation ability, and directs the children to reasonably vent, recognize and stabilize their emotions. Adaptive roller-skating has a significant effect in intervening sadness, anger, anxiety and fear in autistic children; the intervention content setting and difficulty setting of the course have a certain impact on the intervention effect. Highly difficult and risky content can stimulate children. CONCLUSIONS: Adaptive roller-skating intervention course should obey the concept of adaptive movement in view of the differences between autistic children and the fun of roller-skating and guide the autistic children in emotion regulation with positive emotions.

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7. Laubscher E, Barwise A, Light J. Effect of Video Augmentative and Alternative Communication Technology on Communication During Play With Peers for Children With Autism Spectrum Disorder. Lang Speech Hear Serv Sch;2022 (Oct 6);53(4):1101-1116.

PURPOSE: Children with autism spectrum disorder (ASD) are at risk for exclusion from play with their peers due to difficulty with communication skills. Video augmentative and alternative communication (AAC) technology has the potential to support communication within the context of play using videos with integrated visual scene displays. This study investigated the effect of a video AAC intervention on the number of turns in which children with ASD demonstrated symbolic communication during interactions with a peer without disabilities. Maintenance of skills, generalization to untrained play scenarios, and stakeholder perceptions of the video AAC technology were also investigated. METHOD: This study used a single-case, multiple-probe design across participant dyads. It included baseline, intervention, maintenance, and generalization phases. Six children with ASD and six peers participated in the study. RESULTS AND CONCLUSIONS: All six participants with ASD demonstrated an increase in the number of turns in which they demonstrated at least one symbolic communication act following intervention, although one participant demonstrated variability in baseline performance, making it difficult to draw conclusions. Results provide preliminary evidence that instruction with video AAC technology can support communication for children with ASD during play interactions with peers.

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8. Lei J, Charman T, Leigh E, Russell A, Mohamed Z, Hollocks MJ. Examining the relationship between cognitive inflexibility and internalizing and externalizing symptoms in autistic children and adolescents: A systematic review and meta-analysis. Autism Res;2022 (Oct 5)

Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms. This systematic review and meta-analysis explored the association between CI and INT/EXT in autistic adolescents. PubMed, EMBASE, MEDLINE, PsycINFO and Web of Science databases were searched to identify relevant studies until April 2022 (PROSPERO protocol: CRD42021277294). Systematic review included 21 studies (n = 1608) of CI and INT, and 15 studies (n = 1115) of CI and EXT. A pooled effect size using Pearson’s correlation between CI and INT/EXT was calculated and the moderating effects of age, sex, IQ and study quality were investigated using meta-regressions. Sensitivity analyses were completed to investigate the impact of measure variance for CI and co-occurring ADHD on the overall effects. Greater CI is associated with increased INT (nine studies; n = 833; r = 0.39 (moderate effect), 95% confidence interval [0.32, 0.46]) and EXT (six studies; n = 295; r = 0.48 (large effect), 95% confidence interval [0.38, 0.58]). Results withheld when only using parental reports of CI and excluding autistic adolescents with co-occurring ADHD. Increased CI may be a transdiagnostic vulnerability factor that can increase autistic adolescents’ rigid or perseverative patterns of unhelpful cognition and behaviors and reduce their ability to access psychological interventions. Addressing CI may improve autistic children and adolescents’ engagement with psychological therapy for co-occurring mental health difficulties. LAY SUMMARY: This systematic review and meta-analysis explored the relationship between cognitive inflexibility (CI) and symptoms of anxiety, depression and behavioral difficulties in autistic children and adolescents. CI refers to increased rigidity and perseveration in thinking and behavior and was found to be associated with increased mental health symptoms in autistic adolescents. Addressing and targeting individual differences in CI may improve autistic children and adolescents’ engagement with psychological therapy for co-occurring mental health difficulties.

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9. Mannu J, Latha AM, Rajagopal S, Lalitha HDA, Muthurajan R, Loganathan A, Subbarayalu M, Ramasamy G, Jegadeesan R. Whole genome sequencing of ASD 16 and ADT 43 to identify predominant grain size and starch associated alleles in rice. Mol Biol Rep;2022 (Oct 6)

BACKGROUND: The rice cultivars ASD 16 and ADT 43 are the most popular high-yielding Indica rice cultivars in southern India. Despite their popularity very little is known about their genetic basis due to lack of studies on the complete genome. In the current study, efforts were made to identify alleles and SNP markers that differentiate the two contrasting rice genotypes, ASD 16 and ADT 43 for grain shape and starch content. METHODS AND RESULTS: The complete genome of bold grain ASD 16 and slender grain ADT 43 were sequenced via Illumina’s paired-end sequencing and the reads obtained were mapped to the Oryza sativa Indica Group cultivar 93-11 reference genome. The grain size of rice is controlled by Quantitative Trait Loci (QTL) that has a robust effect on grain yield and quality. To gain insight into genes that controlling grain size and starch content, an in-silico analysis was performed by taking into account of 72 grain elongation and starch biosynthesis genes. The identified alleles were further validated in the whole genome sequencing data of 32 bold grain and 25 slender grain varieties that were retrieved from the 3 K rice genome project. CONCLUSION: An « A to G » polymorphism leading to SER 74 PRO was identified at the CDS position 220 of the An-1 gene, encoding bHLH domain-containing protein that regulates awn formation and increase in grain length. The non-synonymous substitutions such as A545C variant leading PHE 182 CYS in ADP Glucose Pyrophosphorylase large subunit IV (AGPL4) and C3094G variant leading to VAL 1032 LEU in Starch synthase IIIb (OsSSIIIb) were also identified in the starch biosynthesis genes. These identified allelic variants may contribute to the crop improvement programs in rice.

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10. Özdemir Ç, Şahin N, Edgünlü T. Vesicle trafficking with snares: a perspective for autism. Mol Biol Rep;2022 (Oct 5)

Vesicle-mediated membrane traffic is the mechanism fundamental to many biological events, especially the release of neurotransmitters. The main proteins of the mechanism that mediates membrane fusion in vesicle-mediated membrane traffic are N-ethylmaleimide sensitive factor (NSF) supplemental protein (SNAP) receptor (SNAREs) proteins. SNAREs are classified into vesicle-associated SNAREs (vesicle-SNAREs/v-SNAREs) and target membrane-associated SNAREs (target-SNARE/t-SNAREs). Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by many symptoms, especially complications in social communication and stereotypical behaviours. Defects in synaptogenesis and neurotransmission, oxidative stress, and developmental defects in the early stages of development are defined in the pathogenesis of the disease. SNARE proteins are on the basis of synaptogenesis and neurotransmission. Although the formation mechanisms and underlying causes of the SNARE complex are not fully understood, expression differences, polymorphisms, abnormal expressions or dysfunctions of the proteins that make up the SNARE complex have been associated with many neurodevelopmental diseases, including autism. Further understanding of SNARE mechanisms is crucial both for understanding ASD and for developing new treatments. In this review, the formation mechanisms of the SNARE complex and the roles of various factors involved in this process are explained. In addition, a brief evaluation of clinical and basic studies on the SNARE complex in autism spectrum disorders was made.

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11. Wang Y, Chiola S, Yang G, Russell C, Armstrong CJ, Wu Y, Spampanato J, Tarboton P, Ullah HMA, Edgar NU, Chang AN, Harmin DA, Bocchi VD, Vezzoli E, Besusso D, Cui J, Cattaneo E, Kubanek J, Shcheglovitov A. Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes. Nat Commun;2022 (Oct 6);13(1):5688.

Human telencephalon is an evolutionarily advanced brain structure associated with many uniquely human behaviors and disorders. However, cell lineages and molecular pathways implicated in human telencephalic development remain largely unknown. We produce human telencephalic organoids from stem cell-derived single neural rosettes and investigate telencephalic development under normal and pathological conditions. We show that single neural rosette-derived organoids contain pallial and subpallial neural progenitors, excitatory and inhibitory neurons, as well as macroglial and periendothelial cells, and exhibit predictable organization and cytoarchitecture. We comprehensively characterize the properties of neurons in SNR-derived organoids and identify transcriptional programs associated with the specification of excitatory and inhibitory neural lineages from a common pool of NPs early in telencephalic development. We also demonstrate that neurons in organoids with a hemizygous deletion of an autism- and intellectual disability-associated gene SHANK3 exhibit intrinsic and excitatory synaptic deficits and impaired expression of several clustered protocadherins. Collectively, this study validates SNR-derived organoids as a reliable model for studying human telencephalic cortico-striatal development and identifies intrinsic, synaptic, and clustered protocadherin expression deficits in human telencephalic tissue with SHANK3 hemizygosity.

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