Perceptual compensation in individuals with autism spectrum disorders

Compensation for coarticulation is the extent in which an individual perceives the contextual variations of speech. When presented with an ambiguous consonant-vowel segment (e.g., a consonant halfway between /sa/ and /∫a/) research illustrates that a listener is likely to compensate for coarticulation with the following vowel. Therefore, a listener will be more likely to report an ambiguous speech sound as /s/ when it occurs before [u] than before [a]. Previous results have suggested that, within neurotypical individuals, the degree to which individuals compensate for coarticulation may be related to their Autism Quotient (AQ; Yu, 2010). However, this research did not examine individuals with an autism spectrum disorder (ASD). The current study extends this research by exploring compensation for coarticulation in individuals with an ASD as compared to neurotypical peers in a phoneme classification task (labeling an ambiguous phoneme as either /s/ or /∫/). Results from a generalized linear mixed effect model suggest that while there are no differences in how the clinical and neurotypical population compensate for coarticulation, there is a difference in how these two cohorts categorize phonemes. Individuals with an ASD illustrate a gradient categorization slope, while neurotypical individuals show a categorical response curve

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest case-control genome-wide association study (GWAS) of PD based on a single collection of individuals to date (3,426 cases and 29,624 controls). We discovered two novel, genome-wide significant associations with PD–rs6812193 near SCARB2 (, ) and rs11868035 near SREBF1/RAI1 (, )—both replicated in an independent cohort. We also replicated 20 previously discovered genetic associations (including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing support for our novel study design. Relying on a recently proposed method based on genome-wide sharing estimates between distantly related individuals, we estimated the heritability of PD to be at least 0.27. Finally, using sparse regression techniques, we constructed predictive models that account for 6%–7% of the total variance in liability and that suggest the presence of true associations just beyond genome-wide significance, as confirmed through both internal and external cross-validation. These results indicate a substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-onset PD, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least $4m$. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the $6.5m$ James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 years, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space Telescope Overview, 29 pages, 4 figure

Perceptual compensation in individuals with autism spectrum disorders

Compensation for coarticulation is the extent in which an individual perceives the contextual variations of speech. When presented with an ambiguous consonant-vowel segment (e.g., a consonant halfway between /sa/ and /∫a/) research illustrates that a listener is likely to compensate for coarticulation with the following vowel. Therefore, a listener will be more likely to report an ambiguous speech sound as /s/ when it occurs before [u] than before [a]. Previous results have suggested that, within neurotypical individuals, the degree to which individuals compensate for coarticulation may be related to their Autism Quotient (AQ; Yu, 2010). However, this research did not examine individuals with an autism spectrum disorder (ASD). The current study extends this research by exploring compensation for coarticulation in individuals with an ASD as compared to neurotypical peers in a phoneme classification task (labeling an ambiguous phoneme as either /s/ or /∫/). Results from a generalized linear mixed effect model suggest that while there are no differences in how the clinical and neurotypical population compensate for coarticulation, there is a difference in how these two cohorts categorize phonemes. Individuals with an ASD illustrate a gradient categorization slope, while neurotypical individuals show a categorical response curve

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least 4 m. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the 6.5 m James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 yr, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit