Atsuki Kawamura, Masaaki Nishiyama
CHD8 encodes chromodomain helicase DNA-binding protein 8 and its mutation is a highly penetrant risk factor for autism spectrum disorder (ASD). CHD8 serves as a key transcriptional regulator on the basis of its chromatin-remodeling activity and thereby controls the proliferation and differentiation of neural progenitor cells. However, the function of CHD8 in postmitotic neurons and the adult brain has remained unclear. Here we show that Chd8 homozygous deletion in mouse postmitotic neurons results in downregulation of the expression of neuronal genes as well as alters the expression of activity-dependent genes induced by KCl-mediated neuronal depolarization...
June 2, 2023: Communications Biology
Boi Cheng, Qunying Sun, Xinhui Li, Meng Xiao, Xiaoqin Wei, Si Wang
Vitamin A deficiency (VAD) has been linked to autism spectrum disorder (ASD) in multiple studies, and autistic children with gastrointestinal (GI) symptoms have been found to have lower VA levels than those without GI symptoms. However, the exact mechanism by which VAD causes both core symptoms and GI symptoms in ASD is ill defined. We constructed VAD and vitamin A normal (VAN) rat models from maternal gestation onwards. Autism-related behaviors were tested using the open-field test and the three-chamber test, and GI function was assessed with the GI transit time, the colonic transit time and fecal water content...
May 31, 2023: Behavioural Brain Research
Alexandra Ure, Georgina R Cox, Richard Haslam, Katrina Williams
BACKGROUND: Autism spectrum disorder (autism) is a neurodevelopmental condition characterised by impairments in social communication and interaction, plus restricted, repetitive patterns of behaviour and interests. Whilst some people embrace autism as part of their identity, others struggle with their difficulties, and some seek treatment. There are no current interventions that result in complete reduction of autism features. Acetylcholine is a neurotransmitter for the cholinergic system and has a role in attention, novelty seeking, and memory...
June 1, 2023: Cochrane Database of Systematic Reviews
Mikhail Vysotskiy, Lauren A Weiss
The 16p11.2 and 22q11.2 copy number variants (CNVs) are associated with neurobehavioral traits including autism spectrum disorder (ASD), schizophrenia, bipolar disorder, obesity, and intellectual disability. Identifying specific genes contributing to each disorder and dissecting the architecture of CNV-trait association has been difficult, inspiring hypotheses of more complex models, such as multiple genes acting together. Using multi-tissue data from the GTEx consortium, we generated pairwise expression imputation models for CNV genes and then applied these elastic net models to GWAS for: ASD, bipolar disorder, schizophrenia, BMI (obesity), and IQ (intellectual disability)...
June 2, 2023: PLoS Genetics
Owen Parsons, Simon Baron-Cohen
BACKGROUND: We examined whether information extracted during a visual statistical learning task could be generalised from specific exemplars to semantically similar ones. We then looked at whether performance in autistic people differed to non-autistic people during a visual statistical learning task and specifically examined whether differences in performance between groups occurred when sequential information was presented at a semantic level. We did this by assessing recall performance using a two-alternative forced choice paradigm after presenting participants with a sequence of naturalistic scene images...
2023: PloS One
Leah I Stein Duker, Dominique H Como, Caitlin Jolette, Cheryl Vigen, Cynthia L Gong, Marian E Williams, José C Polido, Lucía I Floríndez-Cox, Sharon A Cermak
IMPORTANCE: Autistic children have poorer oral health and greater oral care challenges, which are often associated with sensory overresponsivity, than neurotypical peers. It is important to identify innovative solutions enabling dentists to successfully perform standard clinic-based procedures for this population. OBJECTIVE: To determine whether a sensory-adapted dental environment (SADE) reduces physiological and behavioral distress in autistic children undergoing dental cleanings, compared with a regular dental environment (RDE)...
June 1, 2023: JAMA Network Open
Gemma Molinaro, Kimberly M Huber, Elizabeth A McCullagh, Sophie R Thomson
No abstract text is available yet for this article.
2023: Frontiers in Neuroscience
Pradeep Raj Krishnappa Babu, J Matias Di Martino, Zhuoqing Chang, Sam Perochon, Kimberly L H Carpenter, Scott Compton, Steven Espinosa, Geraldine Dawson, Guillermo Sapiro
Atypical facial expression is one of the early symptoms of autism spectrum disorder (ASD) characterized by reduced regularity and lack of coordination of facial movements. Automatic quantification of these behaviors can offer novel biomarkers for screening, diagnosis, and treatment monitoring of ASD. In this work, 40 toddlers with ASD and 396 typically developing toddlers were shown developmentally-appropriate and engaging movies presented on a smart tablet during a well-child pediatric visit. The movies consisted of social and non-social dynamic scenes designed to evoke certain behavioral and affective responses...
2023: IEEE Transactions on Affective Computing
Francesca Talpo, Navjot Kaur, Gerardo Biella
No abstract text is available yet for this article.
2023: Frontiers in Molecular Neuroscience
Sawako Furukawa, Itaru Kushima, Branko Aleksic, Norio Ozaki
BACKGROUND: Copy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder. CASE PRESENTATION: We present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21-year-old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying...
June 1, 2023: Neuropsychopharmacology Reports
Malin Ljungberg, Ulla-Karin Schön
BACKGROUND: The autistic population is growing and ageing and this also applies to the parents. Despite this, research about parental experiences is still relatively scarce. Even though studies show, compared with adults with other disabilities, parents of autistic adolescents and adults report a decrease in well-being and that caregiving is often a lifelong commitment. METHOD: This scoping review maps, synthesises and identifies gaps in previous research as regards the experiences of parental caregivers of adult autistic children...
June 2, 2023: Journal of Applied Research in Intellectual Disabilities: JARID
Trine Lise Bakken, Arvid Nikolai Kildahl, Linn Beate Ludvigsen, Tale Gjertine Bjørgen, Caroline Dalhaug, Jane Margrete Askeland Hellerud, Oddbjørn Hove, Ann Magritt Solheim-Inderberg, Kjersti Karlsen, Sissel Berge Helverschou
BACKGROUND: The assessment of schizophrenia in autistic people with intellectual disabilities is challenging. This study aimed to explore the identification of schizophrenia in this population. METHODS: Using data from a clinical multi-centre study, reported symptoms in 26 autistic individuals with intellectual disabilities diagnosed with co-occurring schizophrenia were explored. Scores on two checklists (Psychopathology in Autism Checklist [PAC], Aberrant Behaviour Checklist [ABC]) were compared with two comparison groups: autistic individuals with intellectual disabilities and other mental disorders (94), or no mental disorder (63)...
June 2, 2023: Journal of Applied Research in Intellectual Disabilities: JARID
Sebastian C K Shaw, Mary Doherty, John L Anderson
BACKGROUND: Increasing recognition of autism is reflected in the growing awareness of autistic health care providers. Regulatory bodies including the UK General Medical Council and the UK Medical Schools Council have published guidance fostering inclusion. Whilst many autistic doctors and students are thriving, many may not disclose their diagnosis unless difficulties arise, which perpetuates stereotypes. No studies have explored the experiences of autistic medical students. We aimed to do this...
June 1, 2023: Medical Education
Mattia Zaghi, Fabiana Longo, Luca Massimino, Alicia Rubio, Simone Bido, Pietro Giuseppe Mazzara, Edoardo Bellini, Federica Banfi, Paola Podini, Francesca Maltecca, Alessio Zippo, Vania Broccoli, Alessandro Sessa
BACKGROUND: Neurodevelopmental disorders (NDDs) are heterogeneous conditions due to alterations of a variety of molecular mechanisms and cell dysfunctions. SETD5 haploinsufficiency leads to NDDs due to chromatin defects. Epigenetic basis of NDDs has been reported in an increasing number of cases while mitochondrial dysfunctions are more common within NDD patients than in the general population. METHODS: We investigated in vitro neural stem cells as well as the brain of the Setd5 haploinsufficiency mouse model interrogating its transcriptome, analyzing mitochondrial structure, biochemical composition, and dynamics, as well as mitochondrial functionality...
June 1, 2023: Molecular Autism
Xiaolan Fang, Timothy Fee, Jessica Davis, Elliot Stolerman, Raymond C Caylor
Ankyrins are a family of proteins that link integral membrane proteins to the underlying spectrin-actin cytoskeleton and play a key role in activities such as cell motility, activation, proliferation, cell-cell contact, and the maintenance of specialized membrane domains. Ankyrin G, which is encoded by ANK3 gene, is one of the three major subtypes of the ankyrin protein family. Ankryin genes are ubiquitously expressed, but their expression is highest in the brain. In the central nervous system, ankyrins have critical roles at the axonal initial segment, the nodes of Ranvier, and at synapses...
June 1, 2023: Cold Spring Harbor Molecular Case Studies
Yongyong Yang, Shun Zhou, Ying Xing, Guanghong Yang, Mingdan You
Accumulating evidence indicates exposure to pesticides during the crucial neurodevelopmental period increases susceptibility to many diseases, including the neurodevelopmental disorder known as autism spectrum disorder (ASD). In the last few years, it has been hypothesized that gut microbiota dysbiosis is strongly implicated in the aetiopathogenesis of ASD. Recently, new studies have suggested that the gut microbiota may be involved in the neurological and behavioural defects caused by pesticides, including ASD symptoms...
May 30, 2023: Ecotoxicology and Environmental Safety
Jie Jian, Li-Guo Li, Peng-Ju Zhao, Rui-Juan Zheng, Xian-Wen Dong, Yong-Hong Zhao, Bao-Qi Yin, Sheng Li, Hui Cheng, Hong-Lei Li, En-Yao Li
BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficits in social communication and restrictive behaviors. Mouse nerve growth factor (mNGF), a neurotrophic factor, is critical for neuronal growth and survival, and the mNGF treatment is considered a promising therapy for neurodegeneration. In light of this, we aimed to evaluate the effect of mNGF on neurological function in ASD. METHODS: An ASD rat model was established by intraperitoneal injection of valproic acid (VPA)...
July 1, 2023: Pharmacogenetics and Genomics
Kelsey Johnson, Alexis Deavenport-Saman, Mary Rose Mamey, Thusa Sabapathy, Sheree M Schrager, Douglas L Vanderbilt
BACKGROUND: Several studies have demonstrated racial/ethnic differences in parental concerns in children with autism spectrum disorder (ASD). However, no studies have investigated racial/ethnic differences in parent-reported strengths. The purpose of this study was to explore racial/ethnic differences in parent-reported strengths in children with ASD. DESIGN AND METHODS: This was a retrospective cross-sectional study investigating the relationship between parent-reported strengths and race/ethnicity at the time of an ASD diagnosis...
June 1, 2023: Journal of Racial and Ethnic Health Disparities
Sweety Mehra, Aitizaz Ul Ahsan, Madhu Sharma, Muskan Budhwar, Mani Chopra
Autism is a neurodevelopmental condition, and it's associated pathophysiology, viz., oxidative stress and altered cellular homeostasis, has been extensively intertwined with behavioral impairments. Therefore, targeting oxidative stress and redox cellular homeostasis could be beneficial in relieving autistic-like symptoms. For this purpose, we examined a library of nutraceutical compounds that led us to a bioflavonoid fisetin. Autism-like neurobehavior was induced by subjecting the pregnant rodents to valproic acid at the time of neural tube closure (GD12...
June 1, 2023: Journal of Molecular Neuroscience: MN
(no author information available yet)
[This retracts the article DOI: 10.3389/fncom.2021.789998.].
2023: Frontiers in Computational Neuroscience
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