- Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes. [Journal Article]
- BBBrain Behav Immun 2018 May 20
- Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms t...
Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms through which maternal psychopathology shapes offspring development remain poorly understood. We applied transcriptome-wide screens to 149 umbilical cord blood samples from neonates born to mothers with posttraumatic stress disorder (PTSD; n=20), depression (n=31) and PTSD with comorbid depression (n=13), compared to carefully matched trauma exposed controls (n=23) and healthy mothers (n=62). Analyses by maternal diagnoses revealed a clear pattern of gene expression signatures distinguishing neonates born to mothers with a history of psychopathology from those without. Co-expression network analysis identified distinct gene expression perturbations across maternal diagnoses, including two depression-related modules implicated in axon-guidance and mRNA stability, as well as two PTSD-related modules implicated in TNF signaling and cellular response to stress. Notably, these disease-related modules were enriched with brain-expressed genes and genetic risk loci for autism spectrum disorder and schizophrenia, which may imply a causal role for impaired developmental outcomes. These molecular alterations preceded changes in clinical measures at twenty-four months, including reductions in cognitive and socio-emotional outcomes in affected infants. Collectively, these findings indicate that prenatal exposure to maternal psychological distress induces neuronal, immunological and behavioral abnormalities in affected offspring and support the search for early biomarkers of exposures to adverse in utero environments and the classification of children at risk for impaired development.
- Scan patterns during scene viewing predict individual differences in clinical traits in a normative sample. [Journal Article]
- PlosPLoS One 2018; 13(5):e0196654
- The relationship between viewer individual differences and gaze control has been largely neglected in the scene perception literature. Recently we have shown a robust association between individual d...
The relationship between viewer individual differences and gaze control has been largely neglected in the scene perception literature. Recently we have shown a robust association between individual differences in viewer cognitive capacity and scan patterns during scene viewing. These findings suggest other viewer individual differences may also be associated with scene gaze control. Here we expand our findings to quantify the relationship between individual differences in clinical traits and scene viewing behavior in a normative sample. The present study used Successor Representation Scanpath Analysis (SRSA) to quantify the strength of the association between individual differences in scan patterns during real-world scene viewing and individual differences in viewer attention-deficit disorder, autism spectrum disorder, and dyslexia scores. The SRSA results revealed individual differences in vertical scan patterns that explained more than half of the variance in attention-deficit scores, a third of the variance in autism quotient scores, and about a quarter of the variance in dyslexia scores. These results suggest that individual differences in attention-deficit disorder, autism spectrum disorder, and dyslexia scores are most strongly associated with vertical scanning behaviors when viewing real-world scenes. More importantly, our results suggest scene scan patterns have promise as potential diagnostic tools and provide insight into the types of vertical scan patterns that are most diagnostic.
- 5-hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder. [Journal Article]
- HMHum Mol Genet 2018 May 22
- Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a...
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC. We identified 797 age-dependent differentially hydroxymethylated regions (DhMRs) in the young group (age ≤ 18), while no significant DhMR was identified in the groups over 18 years of age. Pathway and disease association analyses demonstrated that the intragenic DhMRs were in the genes involved in cell-cell communication and neurological disorders. Also, we saw significant 5hmC changes in the larger group of psychiatric genes. Interestingly, we found that the predicted cis functions of non-coding intergenic DhMRs strikingly associate with ASD and intellectual disorders. A significant fraction of intergenic DhMRs overlapped with topologically associating domains (TAD). These results together suggest that 5hmC alteration is associated with ASD, particularly in the early development stage, and could contribute to the pathogenesis of ASD.
- A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. [Journal Article]
- JNJ Neurogenet 2018 May 23; :1-3
- Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in hum...
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
- Oral health challenges facing Dubai children with Autism Spectrum Disorder at home and in accessing oral health care. [Journal Article]
- EJEur J Paediatr Dent 2018; 19(2):127-133
- CONCLUSIONS: This study indicates that autistic children in Dubai experience more challenges and barriers to oral care than their typically developing healthy peers.
- Parenting stress and depressive symptoms in Taiwanese mothers of young children with autism spectrum disorder: Association with children's behavioural problems. [Journal Article]
- JAJ Appl Res Intellect Disabil 2018 May 23
- CONCLUSIONS: The findings indicated that one of the critical goals in early intervention for young children with ASD and their families is to reduce children's behavioural problems.
- Superior Visual Search and Crowding Abilities Are Not Characteristic of All Individuals on the Autism Spectrum. [Journal Article]
- JAJ Autism Dev Disord 2018 May 22
- Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this 'islet of ability' may not be characteristic of the e...
Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this 'islet of ability' may not be characteristic of the entire spectrum. We examined whether performance on these tasks changed as a function of motor proficiency in children with varying levels of ASD symptomology. Children with high ASD symptomology outperformed all others on complex visual search tasks, but only if their motor skills were rated at, or above, age expectations. For the visual crowding task, children with high ASD symptomology and superior motor skills exhibited enhanced target discrimination, whereas those with high ASD symptomology but poor motor skills experienced deficits. These findings may resolve some of the discrepancies in the literature.
- Role of mTOR Complexes in Neurogenesis. [Review]
- IJInt J Mol Sci 2018 May 22; 19(5)
- Dysregulation of neural stem cells (NSCs) is associated with several neurodevelopmental disorders, including epilepsy and autism spectrum disorder. The mammalian target of rapamycin (mTOR) integrates...
Dysregulation of neural stem cells (NSCs) is associated with several neurodevelopmental disorders, including epilepsy and autism spectrum disorder. The mammalian target of rapamycin (mTOR) integrates the intracellular signals to control cell growth, nutrient metabolism, and protein translation. mTOR regulates many functions in the development of the brain, such as proliferation, differentiation, migration, and dendrite formation. In addition, mTOR is important in synaptic formation and plasticity. Abnormalities in mTOR activity is linked with severe deficits in nervous system development, including tumors, autism, and seizures. Dissecting the wide-ranging roles of mTOR activity during critical periods in development will greatly expand our understanding of neurogenesis.
- Managing autism spectrum disorder in developing countries by utilizing existing resources: A perspective from Bangladesh. [Journal Article]
- AAutism 2018 May 01; :1362361318773981
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- University life with ASD: Faculty knowledge and student needs. [Journal Article]
- AAutism 2018 May 01; :1362361318774148
- Increasingly, young adults with autism spectrum disorder are attending 4-year universities. The transition to adulthood can be challenging for these students, and university life poses its own set of...
Increasingly, young adults with autism spectrum disorder are attending 4-year universities. The transition to adulthood can be challenging for these students, and university life poses its own set of demands. The present article takes a mixed-methods approach by including two studies utilizing complementary methodologies. Through in-depth interviews with students with autism spectrum disorder ( n = 13) and college professors ( n = 18), the purpose of the first study was to evaluate the experiences and needs of college students with autism spectrum disorder and identify the knowledge that faculty members possessed about working with these students. Through survey methodology with a larger sample of faculty members ( n = 132), the purpose of the second study was to obtain more information about faculty knowledge of autism spectrum disorder, and to learn whether their pedagogical practices accommodated students with autism spectrum disorder. Findings revealed that autism is often an "invisible" disability on campuses, and there are many things that professors need to know with regard to working with these students in particular. Implications for practice are discussed.