Single-cell genomics identifies cell type-specific molecular changes in autism

Despite the clinical and genetic heterogeneity of autism, bulk gene expression studies show that changes in the neocortex of autism patients converge on common genes and pathways. However, direct assessment of specific cell types in the brain affected by autism has not been feasible until recently. We used single-nucleus RNA sequencing of cortical tissue from patients with autism to identify autism-associated transcriptomic changes in specific cell types. We found that synaptic signaling of upper-layer excitatory neurons and the molecular state of microglia are preferentially affected in autism. Moreover, our results show that dysregulation of specific groups of genes in cortico-cortical projection neurons correlates with clinical severity of autism. These findings suggest that molecular changes in upper-layer cortical circuits are linked to behavioral manifestations of autism.
Source: ScienceNOW - Category: Science Authors: Tags: Development, Medicine, Diseases, Neuroscience reports Source Type: news

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Abstract Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studi...
Source: Clinical Linguistics and Phonetics - Category: Speech-Language Pathology Authors: Tags: Clin Linguist Phon Source Type: research
Conclusions: Our data suggest that children with ASD with GI symptoms have a high prevalence of duodenal intraepithelial lymphocytic infiltration, which seems to be linked to a mechanism other than autoimmune response to gluten consumption. Alteration of duodenal histology, but not the HLA-DQ2/DQ8 status, was associated with clinical response to the diet.
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research
ConclusionsOur results suggest a causal role of insomnia in autism spectrum disorder and bipolar disorder. Future disease models should include insomnia as a factor for these two disorders to develop effective interventions. More detailed mechanism studies may also be inspired by this causal inference.
Source: European Psychiatry - Category: Psychiatry Source Type: research
Authors: Theoharides TC, Kavalioti M Abstract Learning and motivation are critical in the development of children, and to their acquisition of knowledge and skills. A case in point is autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impaired social interactions and communication, as well as by stereotypic movements. Maternal stress has been strongly associated with increased risk of developing ASD. Children experience multiple stressors such as separation anxiety, fear of the unknown, physical and/or emotional trauma, bullying, as well as environmental exposures. Stress is well known ...
Source: International Journal of Immunopathology and Pharmacology - Category: Allergy & Immunology Tags: Int J Immunopathol Pharmacol Source Type: research
Authors: Eling P Abstract In this chapter, I will present an overview of early case descriptions of specific isolated cognitive deficits in children for which no clear brain impairment could be demonstrated and which were therefore considered to be congenital or developmental in nature. Three kinds of syndromes will be discussed. First, more general deficits like the attention and hyperactivity disorder and congenital aphasia will be presented. The second category relates to the more specific cognitive deficits, like developmental prosopagnosia, that have been reported, especially from the early 1980s onwards. In p...
Source: Frontiers of Neurology and Neuroscience - Category: Neuroscience Tags: Front Neurol Neurosci Source Type: research
ConclusionsThe current findings provide initial support for the delivery of the RUBI Parent Training in a group of parents. This could provide a cost-effective alternative for the treatment of problem behavior in children with ASD.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
ConclusionsThese findings highlight the potential value and appropriateness of combining and presenting the identified factors in tools to support transitions to primary school for students with autism.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
Publication date: Available online 22 June 2019Source: Seminars in Cell &Developmental BiologyAuthor(s): Maude Bordeleau, Micaël Carrier, Giamal N. Luheshi, Marie-Ève TremblayAbstractIn addition to their traditional role as immune sentinels, recent discoveries over the last decade have shown that microglial functions now include regulation of neuronal/glial cell migration, differentiation and maturation, as well as neuronal network formation. It was thus proposed that disruption of these microglial roles, during critical periods of brain development, could lead to the pathological onset of several neurodeve...
Source: Seminars in Cell and Developmental Biology - Category: Cytology Source Type: research
We examined small study effects and excess significance. We did analyses under credibility ceilings. This review is registered with PROSPERO, number CRD42018091704.Findings46 eligible articles yielded data on 67 environmental risk factors (544 212 cases, 81 708 787 individuals) and 52 biomarkers (15 614 cases, 15 433 controls). Evidence of association was convincing for maternal age of 35 years or over (relative risk [RR] 1·31, 95% CI 1·18–1·45), maternal chronic hypertension (odds ratio [OR] 1·48, 1·29–1·70), maternal gestational hypertension (OR 1·37,...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
Publication date: July 2019Source: The Lancet Psychiatry, Volume 6, Issue 7Author(s): Catherine Lord
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
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