1. Alhuzimi T. {{Stress and emotional wellbeing of parents due to change in routine for children with Autism Spectrum Disorder (ASD) at home during COVID-19 pandemic in Saudi Arabia}}. {Res Dev Disabil}. 2020; 108: 103822.
BACKGROUND: Parents of children with Autism Spectrum Disorder (ASD) experience considerable amounts of stress and impaired emotional well-being. Consequently, it is likely that these have been adversely impacted by COVID-19 outbreak due to disruptions to the schedules of children with ASD. AIM: This study investigated the stress and emotional well-being of parents of children with ASD in Saudi Arabia during the COVID-19 pandemic. METHOD: The study obtained quantitative data from 150 parents of children with ASD from different regions in Saudi Arabia using an online survey. The data collected included demographic data of the parents, ASD status of the family, ASD support during COVID-19 pandemic, severity of ASD behaviours in comparison to the pre- COVID-19 status eating behaviour of the child with ASD, Parental Stress, and emotional well-being. The PSI-short form (PSI-SF) (Abidin, 1995) scale was utilised to obtain data related to parental stress and the General Health Questionnaire (GHQ-12) (Goldberg, 1992) scale was utilised to obtain data related to parents’ emotional well-being. RESULTS: The study found that family ASD status (in particular, age and gender of child with ASD, and severity of his/her symptoms) had a significant impact on parental stress and emotional well-being. Moreover, parental stress and emotional well-being were negatively impacted by the frequency and usefulness of ASD support received during COVID-19 pandemic. These were also adversely impacted by the change in severity of ASD behaviours of the children with ASD. Finally, parental stress was found to have a negative impact on the emotional well-being of parents. Overall, the study found that the parental stress and emotional well-being of parents of children with ASD in Saudi Arabia had been unfavourably impacted by COVID-19 pandemic. CONCLUSIONS: Overall, the study found that the parental stress and emotional well-being of parents with ASD in Saudi Arabia had been unfavourably impacted by COVID-19 pandemic. This study recommends the involvement of the Saudi Ministry of Health to establish and extend support services to support parents of children with ASD. Moreover, the provision of training programs to help parents deal with the characteristic behaviour of their children with ASD such as, the ability to maintain routines, aggressive or repetitive behaviour, is also recommended.
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2. Ammons CJ, Winslett ME, Kana RK. {{Neural responses to viewing human faces in autism spectrum disorder: A quantitative meta-analysis of two decades of research}}. {Neuropsychologia}. 2020; 150: 107694.
The human face communicates a wealth of socially relevant information such as person identity, emotion, and intention. A consistent behavioral finding in autism spectrum disorder (ASD) is reduced attention to or difficulty drawing meaning from faces. However, neuroimaging research into the neural correlates of face processing differences in ASD has returned mixed results. While many studies find hypo-activation or hypo-connectivity of core and extended face network regions, others show hyper-activation, equal activation, or even activation shifted to object-selective fusiform gyrus (FG) regions in ASD during face processing. This study consolidates two decades of literature to reveal common and consistent patterns of brain activation when viewing human faces in ASD. It also addresses whether face processing in ASD is routinely shifted to object-centric regions of the FG. To do so, we conducted an extensive search of the neuroimaging literature according to PRISMA guidelines. Peak activation coordinates from a final set of 23 studies, yielding a sample of 713 participants (338 ASD), were included for quantitative meta-analysis using Activation Likelihood Estimation (ALE). ASD within-group results across studies revealed a single activation cluster in the left FG, which presented laterally to the mid-fusiform sulcus (MFS). Typically developing groups displayed common activations across core and extended face network regions. Exploratory analysis of between group findings from the literature did not yield significant results. Overall, our results suggest that individuals with ASD consistently activate at least one typical face network region, the left FG, when processing faces and this activation is not routinely shifted to object-centric areas of the FG.
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3. Bedford R, Carter Leno V, Wright N, Bluett-Duncan M, Smith TJ, Anzures G, Pickles A, Sharp H, Hill J. {{Emotion Recognition Performance in Children with Callous Unemotional Traits is Modulated by Co-occurring Autistic Traits}}. {J Clin Child Adolesc Psychol}. 2020: 1-17.
OBJECTIVE: Atypical emotion recognition (ER) is characteristic of children with high callous unemotional (CU) traits. The current study aims to 1) replicate studies showing ER difficulties for static faces in relation to high CU-traits; 2) test whether ER difficulties remain when more naturalistic dynamic stimuli are used; 3) test whether ER performance for dynamic stimuli is moderated by eye-gaze direction and 4) assess the impact of co-occurring autistic traits on the association between CU and ER. METHODS: Participants were 292 (152 male) 7-year-olds from the Wirral Child Health and Development Study (WCHADS). Children completed a static and dynamic ER eye-tracking task, and accuracy, reaction time and attention to the eyes were recorded. RESULTS: Higher parent-reported CU-traits were significantly associated with reduced ER for static expressions, with lower accuracy for angry and happy faces. No association was found for dynamic expressions. However, parent-reported autistic traits were associated with ER difficulties for both static and dynamic expressions, and after controlling for autistic traits, the association between CU-traits and ER for static expressions became non-significant. CU-traits and looking to the eyes were not associated in either paradigm. CONCLUSION: The finding that CU-traits and ER are associated for static but not naturalistic dynamic expressions may be because motion cues in the dynamic stimuli draw attention to emotion-relevant features such as eyes and mouth. Further, results suggest that ER difficulties in CU-traits may be due, in part, to co-occurring autistic traits. Future developmental studies are required to tease apart pathways toward the apparently overlapping cognitive phenotype.
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4. Brien A, Hutchins TL, Westby C. {{Autobiographical Memory in Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, Hearing Loss, and Childhood Trauma: Implications for Social Communication Intervention}}. {Language, speech, and hearing services in schools}. 2020: 1-21.
Purpose Speech-language pathologists (SLPs) work with a variety of populations at risk for poor autobiographical and episodic memory. The purpose of this tutorial is to describe autobiographical memory and how it is affected in children with autism spectrum disorder, attention-deficit/hyperactivity disorder, hearing loss, and childhood trauma, as well as provide clinicians with practical strategies for supporting autobiographical memory in each of these clinical populations. Method This tutorial reviews the literature on (a) autobiographical and episodic memory in typical development; (b) its relation to theory of mind, personal narrative skills, and executive functions; (c) elaborative reminiscing in typical development; (d) how autobiographical memory is impaired in children with autism spectrum disorder, attention-deficit/hyperactivity disorder, hearing loss, and childhood trauma; and (e) strategies for supporting autobiographical memory in each clinical population. Conclusions When adequately prepared, SLPs are uniquely situated to address autobiographical and episodic memory in their work with children, families, and related professionals. This is a long-overdue focus of such great clinical import that justifies its inclusion in the traditional training and preparation of SLPs. Adapting elaborative reminiscing strategies for use with various clinical populations is promising for facilitating healthy EM development and related cognitive functions.
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5. Cast T, Boesch D, Smyth K, Shaw A, Ghebrial M, Chanda S. {{An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons}}. {J Neurosci}. 2020.
Neuroligins (NLGNs) are a class of postsynaptic cell-adhesion molecules that interact with presynaptic Neurexins (NRXNs) and regulate synapse function. Neuroligin-4 (NLGN4) is a member of the NLGN family and consists of a unique amino-acid sequence in humans that is not evolutionarily well-conserved in rodents. The human-specific NLGN4 gene has been reported to be mutated in many patients with autism and other neurodevelopmental disorders. However, it remained unclear how these mutations might alter the molecular properties of NLGN4 and affect synaptic transmission in human neurons. Here, we describe a severely autistic male patient carrying a single amino-acid substitution (R101Q) in the NLGN4 gene. When expressed in HEK293 cells, the R101Q mutation in NLGN4 did not affect its binding affinity for NRXNs or its capacity to form homodimers. This mutation, however, impaired the maturation of NLGN4 protein by inhibiting N-linked glycosylation at an adjacent residue (N102), which is conserved in all NLGNs. As a result, the R101Q substitution significantly decreased the surface trafficking of NLGN4 and increased its retention in the endoplasmic reticulum and Golgi apparatus. In human neurons derived from male stem-cell lines, the R101Q mutation also similarly reduced the synaptic localization of NLGN4, resulting in a loss-of-function phenotype. This mutation-induced trafficking defect substantially diminished NLGN4’s ability to form excitatory synapses and modulate their functional properties. Viewed together, our findings suggest that the R101Q mutation is pathogenic for NLGN4 and can lead to synaptic dysfunction in autism.SIGNIFICANCE STATEMENTSeveral single amino-acid substitutions in X-linked NLGN4 (NLGN4X) gene have been identified in autistic patients. However, it remained unclear how these point-mutations might affect NLGN4 properties and influence synapse function in humans. Here, we analyzed the mechanisms of an autism-associated R101Q variant in NLGN4. We demonstrate that this mutation can directly impair NLGN4’s post-translational modification (PTM) by inhibiting N-linked glycosylation. These immaturely glycosylated products exhibit categorical deficits in surface trafficking and synaptic localization, and thus represent a loss-of-function phenotype. In reprogrammed human neurons, loss of NLGN4 function by R101Q mutation resulted in enhanced excitatory synaptic transmission. Our results highlight the pathological reactions of a NLGN4 point-mutation, which may lead to mechanism-based therapy.
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6. Castro-Kemp S, Gaona C, Grande C, Palikara O. {{Consistency between provision, outcomes and functioning needs in statutory documents for young children with developmental disabilities in England}}. {Res Dev Disabil}. 2020; 108: 103815.
BACKGROUND: It is widely accepted that early childhood intervention for children with disabilities should address the assessment-intervention cycle holistically. Documenting both assessment and intervention is important to support provision effectively. In England, the official document that describes needs and provision for children with special educational needs and disabilities is the Education Health and Care plan. This document requires inter-professional collaboration and a focus on children’s holistic participation, rather than diagnosis. AIM: To examine the consistency between provision, outcomes and needs of young children with disabilities in England, as described in their Education Health and Care plans. METHODS: The plans of 68 young children were examined and the relationships between documented needs, outcomes and provision actions analysed. RESULTS: provision is more related to children’s individual needs, than to their diagnoses, when needs are described in sufficient detail; interdisciplinarity leads to higher quality documentation of provision and outcomes. However, more needs to be done to support professionals in developing higher quality needs descriptions and interdisciplinary collaborations. IMPLICATIONS: Training and interdisciplinarity with a common language between professionals have the potential to improve currently observed challenges regarding consistency between provision, needs and outcomes.
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7. Hu VW, Hong Y, Xu M, Shu HT. {{Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways}}. {Autism}. 2020: 1362361320971085.
This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders.
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8. Joseph B, Kearney KB, Brady MP, Downey A, Torres A. {{Teaching Small Talk: Increasing On-Topic Conversational Exchanges in College Students with Intellectual and Developmental Disabilities Using Remote Audio Coaching}}. {Behav Modif}. 2020: 145445520975174.
Adults with intellectual and developmental disabilities (IDD) often have deficits in interpersonal skills due to limited social-communication opportunities. Knowing how to engage in « small talk » or simple social conversational exchanges can be beneficial in postsecondary schooling, employment sites, community environments, and social gatherings. Recently, covert audio coaching (CAC) showed a positive impact on increasing conversational exchanges. As the COVID-19 pandemic increased the need for remote delivery tools, we explored the effectiveness of remote audio coaching (RAC) to teach this skill to college students with IDD. We used a multiple baseline design across participants to examine whether RAC might increase on-topic, small talk conversational exchanges. Results demonstrated that RAC effectively increased small talk skills between participants and a confederate. Upon removal of RAC, all participants still performed above their baselines, with two participants maintaining near mastery levels 2 weeks after the intervention was removed. Limitations and future research are discussed.
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9. Kano K, Yamanaka G, Muramatsu K, Morichi S, Ishida Y, Takamatsu T, Suzuki S, Miyajima T, Nakagawa E, Nishino I, Kawashima H. {{Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review}}. {Am J Med Genet A}. 2020.
Several patients with beta-propeller protein-associated neurodegeneration (BPAN)/static encephalopathy with neurodegeneration in adulthood have been reported to present Rett syndrome (RTT)-like features. This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4 years. Screening of the methyl-CpG binding protein 2 (MECP2) did not show variants. At 22 years, basal ganglia iron deposits were found on magnetic resonance imaging (MRI), and the WD-domain repeat 45 gene (WDR45) variant was identified. Review of the literature showed that BPAN with RTT-like features is associated with more epileptic seizures and less deceleration of head growth, breathing irregularities, and cold extremities than classic RTT with MECP2 variants. These clinical presentations may provide clues for differentiating between these two disorders. However, both WDR45 and MECP2 should be screened in patients presenting a clinical picture of RTT without specific MRI findings of BPAN.
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10. Khaleghi A, Zarafshan H, Vand SR, Mohammadi MR. {{Effects of Non-invasive Neurostimulation on Autism Spectrum Disorder: A Systematic Review}}. {Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology}. 2020; 18(4): 527-52.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by major impairments in social communication, stereotyped and ritualistic behaviors and deficits in sensory reactivity. Recently, noninvasive brain stimulation (NIBS) methods, namely transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS), have been examined as possible new therapeutic options for modifying the pathological neuroplasticity involved in neuropsychiatric disorders including ASD. Therefore, we conducted a systematic review on the therapeutic uses of tDCS and repetitive TMS (rTMS) in ASD patients. A systematic search was performed on Scopus, Web of Science, PubMed, Cochrane and Embase. Original articles reporting the use of tDCS or rTMS to treat ASD were screened and studied by two researchers independently based on PRISMA guidelines. We found 32 eligible studies including 8 tDCS reports, 23 rTMS reports and one report with both tDCS and rTMS. These studies comprised 6 case-reports, 9 non-controlled trials and 17 controlled trials which assessed NIBS effects on the three cognitive, behavioral and biological dimensions in ASD. Existing evidence demonstrates that NIBS methods could be helpful for treating some dimensions of ASD such as repetitive behavior, sociability or some aspects of executive and cognitive functions. However, such evidence should be regarded with care because of the quality of original researches and serious publication bias as well as the heterogeneity of data. Further randomized, double-blind, sham-controlled trials with appropriate follow-up periods should be designed to assess the efficacy of NIBS methods for ASD treatment.
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11. Liu F, Ji Y, Li G, Xu C, Sun Y. {{Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6}}. {Gene}. 2020; 761: 145027.
OBJECTIVES: Oliver-McFarlane syndrome (OMCS) is an autosomal recessive inherited disease resulting from PNPLA6 mutations that results in intellectual impairment and profound short stature. To obtain a better understanding of the genotype-phenotype correlations for PNPLA6-related disorders, we reported the 14th OMCS case and summarized all the reported cases of OMCS. METHODS: We collected clinical biochemical and data and brain MRI data and used whole-exon gene detection and analysis tools to evaluate the pathogenicity of the variants, including PolyPhen-2 and Mutation Taster, and we also generated three-dimensional protein structures and visualized the effects of altered residues with I-TASSER and PyMOL Viewer software. RESULTS: The patient presented with trichomegaly and multiple pituitary hormone deficiencies. Brain MRI showed small pituitary and bilateral paraventricular leukomalacia. Novel variants (c.1491G > T and c.3367G > A) in the PNPLA6 gene were detected in the proband and verified by direct sequencing. Amino acid residues of Gln497 and Gly1123 are predicted to be damaging and destroy the three-dimensional protein structures of the protein. In follow-up, this patient could neither walk nor hold his head erect and had not spoken one word at the age of one year and ten months. Moreover, there is no obvious hot spot mutation in any of the reported allelic variants. Interestingly, the majority of mutations are located in the phospholipid esterase domain, which is responsible for esterase activity. CONCLUSIONS: We identified two novel variants of the PNPLA6 gene in an OMCS patient, which will help to better understand the function of PNPLA6 and genotype-phenotype correlations for PNPLA6-related disorders.
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12. Thanh LN, Nguyen PH, Hoang DM. {{Letter to the editor: « A Phase II Randomized Clinical Trial of the Safety and Efficacy of Intravenous Umbilical Cord Blood Infusion for Treatment of Children with Autism Spectrum Disorder »}}. {The Journal of pediatrics}. 2020.
