Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.

BACKGROUND: Variants disruptive to CHD8 (which codes for the protein CHD8 [chromodomain-helicase-DNA-binding protein 8]) are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work has indicated that CHD8 plays a role in the regulation of other ASD-risk genes. However, it is unclear whether a possible shared genetic ontology extends to the phenotype. METHODS: This study (N = 143; 42.7% female participants) investigated clinical and behavioral features of individuals ascertained for the presence of a known disruptive ASD-risk mutation that is 1) CHD8 (CHD8 group) (n = 15), 2) a gene targeted by CHD8 (target group) (n = 22), or 3) a gene without confirmed evidence of being targeted by CHD8 (other gene group) (n = 106). RESULTS: Results indicated shared features between the CHD8 and target groups that included less severe adaptive deficits in communication skills, similar functional language, more social motivation challenges in those with ASD, larger head circumference, higher weight, and lower seizure prevalence relative to the other gene group. CONCLUSIONS: These similarities suggest broader genetic ontology accounts for aspects of phenotypic heterogeneity. Improved understanding of the relationships between related disruptive gene events may lead us to improved understanding of shared mechanisms and lead to more focused treatments for individuals with known genetic mutations.

Trauma and Autism Spectrum Disorder: Review, Proposed Treatment Adaptations and Future Directions.

Empirical investigations of trauma and post-traumatic stress disorder (PTSD) in individuals with autism spectrum disorder (ASD) are lacking despite indications of increased risk for exposure to potentially traumatic events in this population. Research on the treatment of traumatic stress psychopathology in ASD is even more limited and suggests a critical need for guidance in the area of ASD-specific treatment adaptations. The current paper provides preliminary recommendations for adapting current evidenced-based, trauma-specific interventions, specifically trauma-focused cognitive behavioral therapy (TF-CBT), for individuals with ASD based on well-established and evidence-based practices for working with this population. These adaptations highlight the need to incorporate treatment goals related to ASD core symptoms and associated characteristics during treatment targeting traumatic stress symptoms. Future directions are discussed, including the development of instruments measuring trauma reactions in ASD, empirical investigations of modified trauma interventions for children with ASD to evaluate effectiveness, and collaboration between professionals specializing in ASD and trauma/PTSD to advance research and facilitate effective care for this community.

Medicare Incentive Payments to United States Ophthalmologists for Use of Electronic Health Records: 2011-2016.

PURPOSE: To investigate ophthalmologists' rate of attestation to meaningful use (MU) of their electronic health record (EHR) systems in the Medicare EHR Incentive Program and their continuity and success in receiving payments in comparison with other specialties. DESIGN: Administrative database study. PARTICIPANTS: Eligible professionals participating in the Medicare EHR Incentive Program. METHODS: Based on publicly available data sources, subsets of payment and attestation data were created for ophthalmologists and for other specialties. The number of eligible professionals attesting was determined using the attestation data for each year and stage of the program. The proportion of attestations by EHR vendor was calculated using all attestations for each vendor. MAIN OUTCOME MEASURES: Numbers of ophthalmologists attesting by year and stage of the Medicare EHR Incentive Program, incentive payments, and number of attestations by EHR vendor. RESULTS: In the peak year of participation, 51.6% of ophthalmologists successfully attested to MU, compared with 37.1% of optometrists, 50.2% of dermatologists, 54.5% of otolaryngologists, and 64.4% of urologists. Across the 6 years of the program, ophthalmologists received an average of $17 942 in incentive payments compared with $11 105 for optometrists, $16 617 for dermatologists, $20 203 for otolaryngologists, and $23 821 for urologists. Epic and Nextgen were the most frequently used EHRs for attestation by ophthalmologists. CONCLUSIONS: Ophthalmology as a specialty performed better than optometry and dermatology, but worse than otolaryngology and urology, in terms of the proportion of eligible professionals attesting to MU of EHRs. Ophthalmologists were more likely to remain in the program after their initial year of attestation compared with all eligible providers. The top 4 EHR vendors accounted for 50% of attestations by ophthalmologists.

Longitudinal report of child with de novo 16p11.2 triplication.

16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.

Production of the polysaccharide curdlan by an Agrobacterium strain grown on a plant biomass hydrolysate.

Production of the commercially available polysaccharide curdlan by Agrobacterium sp. strain ECP-1, isolated as a mutant strain from ATCC 31749, on a medium containing a hydrolysate of the plant prairie cordgrass with selected ammonium phosphate concentrations was investigated for a period of 144 h. Although several ammonium phosphate concentrations supported curdlan production by the strain, the optimal concentration after 120 or 144 h was 3.3 mmol·L⁻¹. Only ammonium phosphate concentrations of 1.1 or 8.7 mmol·L⁻¹ failed to support curdlan production by the strain after 120 or 144 h. Biomass production by strain ECP-1 on the hydrolysate-containing medium after 120 or 144 h was comparable, independent of the ammonium phosphate concentration present. The curdlan yield from the cordgrass hydrolysate indicated that the grass was an effective plant biomass substrate for polysaccharide production.

Elevated 3-hydroxypropionaldehyde production from glycerol using a Citrobacter freundii mutant.

A mutant strain of Citrobacter freundii capable of elevated 3-hydroxypropionaldehyde production from glycerol was isolated using chemical mutagenesis and a screening protocol. The protocol involved screening mutagenized bacterial cells on solid minimal medium containing 5 % (v/v) glycerol. Colonies were picked onto duplicate solid minimal medium plates and one plate was stained with 1 % (w/v) phloroglucinol. Those colonies staining red were further screened and a mutant, HPAO-1, was identified. The mutant strain produced a several-fold higher 3-hydroxypropionaldehyde concentration than did the parent strain when grown on 5 % (v/v) glycerol. The ratio of culture volume to flask volume influenced 3-hydroxypropionaldehyde production by the mutant cells compared to the parent cells. Aldehyde production was highest when the mutant strain was grown on 5 % (v/v) glycerol at a ratio of culture volume to flask volume of 1:3 or 1:12.5.

Individual differences in rats' reactivity to novelty and the unconditioned and conditioned locomotor effects of methamphetamine.

Rat's reactivity to inescapable novelty can predict the subsequent psychomotor effects of many stimulants. This relation has not been examined for methamphetamine. Experiment 1 assessed the locomotor effects of methamphetamine (0.0625-1.0 mg/kg). On average, acute administration of methamphetamine (0.25, 0.5, and 1 mg/kg) had a stimulant effect on activity; locomotor sensitization was seen after repeated administration of 0.5 and 1 mg/kg. In a subsequent drug-free test, rats that had the locomotor chamber paired with 0.25, 0.5, or 1 mg/kg methamphetamine on eight separate occasions were more active than controls--conditioned hyperactivity. Experiment 2 used the 0.5-mg/kg dose to examine whether forced novelty exposure (novelty-induced activity) or free-choice novelty (approach to novel environment or object interaction) was predictive of methamphetamine's psychomotor effects. Only reactivity to inescapable novelty was systematically correlated with methamphetamine-induced activity. Rats more reactive to novelty [high responders (HR)] were more active to the acute and chronic methamphetamine challenge. Furthermore, these HR showed more conditioned hyperactivity than low responders (LR). Although acute methamphetamine did not have a stimulant effect in LR, only the LR displayed locomotor sensitization after chronic methamphetamine. This research extends the predictive variable of reactivity to inescapable novelty to methamphetamine's conditioned and unconditioned locomotor effects.