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Objective: To determine the feasibility of integrating Medicare Advantage (MA) admissions into the Centers for Medicare & Medicaid Services (CMS) hospital outcome measures through combining Medicare Advantage Organization (MAO) encounter‐ and hospital‐submitted inpatient claims. Data Sources and Study Setting: Beneficiary enrollment data and inpatient claims from the Integrated Data Repository for 2018 Medicare discharges. Study Design: We examined timeliness of MA claims, compared diagnosis and procedure codes for admissions with claims submitted both by the hospital and the MAO (overlapping claims), and compared demographic characteristics and principal diagnosis codes for admissions with overlapping claims versus admissions with a single claim. Data Collection/Extraction Methods: We combined hospital‐ and MAO‐submitted claims to capture MA admissions from all hospitals and identified overlapping claims. For admissions with only an MAO‐submitted claim, we used provider history data to match the National Provider Identifier on the claim to the CMS Certification Number used for reporting purposes in CMS outcome measures. Principal Findings: After removing void and duplicate claims, identifying overlapped claims between the hospital‐ and MAO‐submitted datasets, restricting claims to acute care and critical access hospitals, and bundling same admission claims, we identified 5,078,611 MA admissions. Of these, 76.1% were submitted by both the hospital and MAO, 14.2% were submitted only by MAOs, and 9.7% were submitted only by hospitals. Nearly all (96.6%) hospital‐submitted claims were submitted within 3 months after a one‐year performance period, versus 85.2% of MAO‐submitted claims. Among the 3,864,524 admissions with overlapping claims, 98.9% shared the same principal diagnosis code between the two datasets, and 97.5% shared the same first procedure code. Conclusions: Inpatient MA data are feasible for use in CMS claims‐based hospital outcome measures. We recommend prioritizing hospital‐submitted over MAO‐submitted claims for analyses. Monitoring, data audits, and ongoing policies to improve the quality of MA data are important approaches to address potential missing data and errors. [ABSTRACT FROM AUTHOR]

Intellectual disability (ID), often attributed to autosomal-recessive mutations, occurs in 40% of autism spectrum disorders (ASDs). For this reason, we conducted a genome-wide analysis of runs of homozygosity (ROH) in simplex ASD-affected families consisting of a proband diagnosed with ASD and at least one unaffected sibling. In these families, probands with an IQ ≤ 70 show more ROH than their unaffected siblings, whereas probands with an IQ > 70 do not show this excess. Although ASD is far more common in males than in females, the proportion of females increases with decreasing IQ. Our data do support an association between ROH burden and autism diagnosis in girls; however, we are not able to show that this effect is independent of low IQ. We have also discovered several autism candidate genes on the basis of finding (1) a single gene that is within an ROH interval and that is recurrent in autism or (2) a gene that is within an autism ROH block and that harbors a homozygous, rare deleterious variant upon analysis of exome-sequencing data. In summary, our data suggest a distinct genetic architecture for participants with autism and co-occurring intellectual disability and that this architecture could involve a role for recessively inherited loci for this autism subgroup.

AbstractBackgroundSpecific genetic contributions for preeclampsia (PE) are currently unknown. This genome-wide association study (GWAS) aims to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) involved in the etiology of PE.MethodsA genome-wide scan was performed on 177 PE cases (diagnosed according to National Heart, Lung and Blood Institute guidelines) and 116 normotensive controls. White female study subjects from Iowa were genotyped on Affymetrix SNP 6.0 microarrays. CNV calls made using a combination of four detection algorithms (Birdseye, Canary, PennCNV, and QuantiSNP) were merged using CNVision and screened with stringent prioritization criteria. Due to limited DNA quantities and the deleterious nature of copy-number deletions, it was decided a priori that only deletions would be selected for assay on the entire case-control dataset using quantitative real-time PCR.ResultsThe top four SNP candidates had an allelic or genotypic p-value between 10-5 and 10-6, however, none surpassed the Bonferroni-corrected significance threshold. Three recurrent rare deletions meeting prioritization criteria detected in multiple cases were selected for targeted genotyping. A locus of particular interest was found showing an enrichment of case deletions in 19q13.31 (5/169 cases and 1/114 controls), which encompasses the PSG11 gene contiguous to a highly plastic genomic region. All algorithm calls for these regions were assay confirmed.ConclusionsCNVs may confer risk for PE and represent interesting regions that warrant further investigation. Top SNP candidates identified from the GWAS, although not genome-wide significant, may be useful to inform future studies in PE genetics.

Epilepsy is common in children with autism spectrum disorder (ASD) but little is known about how seizures impact the autism phenotype. The association between epilepsy and autism symptoms and associated maladaptive behaviors was examined in 2,645 children with ASD, of whom 139 had epilepsy, from the Simons Simplex Collection. Children with ASD and epilepsy had significantly more autism symptoms and maladaptive behaviors than children without epilepsy. However, after adjusting for IQ, only hyperactivity symptoms remained significantly increased (13% higher) in the epilepsy group. Among children with ASD without co-occurring intellectual disability, children with epilepsy had significantly more irritability (20% higher) and hyperactivity (24% higher) symptoms. This is the largest study to date comparing the autism phenotype in children with ASD with and without epilepsy. Children with ASD and epilepsy showed greater impairment than children without epilepsy, which was mostly explained by the lower IQ of the epilepsy group. These findings have important clinical implications for patients with ASD.

Objective Physical activity (PA) is hypothesized to reduce the risk of preeclampsia, but few epidemiologic studies have simultaneously evaluated leisure time PA (LTPA), sedentary activity, occupational activity, and non-occupational, non-leisure time PA. Thus, we assessed the independent and combined effects of these different types of PA during pregnancy on preeclampsia and gestational hypertension risk. Methods Preeclamptic (n = 258), gestational hypertensive (n = 233), and normotensive (n = 182) women identified from Iowa live birth records (2002-2005) were participants in Study of Pregnancy Hypertension in Iowa. Disease status was verified by medical chart review. All PA exposures were self-reported. Multinomial logistic regression was used to test for associations between various PA types and risk for preeclampsia or gestational hypertension. Results After adjusting for prepregnancy BMI, increasing levels of LTPA were associated with a reduced risk of preeclampsia (trend, p = 0.02). Additionally, increasing amount of time spent active each day was associated with decreasing risks for preeclampsia (adjusted, trend; p = 0.03). Increasing amount of time spent sitting per day was associated with an increasing risk of preeclampsia (adjusted, trend; p = 0.10). Women whose activity averaged >8.25 h per day were at a significantly reduced risk of preeclampsia relative to women active Conclusion Consistent with previous studies, these data suggest increasing PA during pregnancy may reduce preeclampsia risk while increasing levels of sedentary activity may increase disease risk., Author(s): Cassandra N. Spracklen[sup.1] , Kelli K. Ryckman[sup.2] , Elizabeth W. Triche[sup.3] , Audrey F. Saftlas[sup.2] Author Affiliations: (1) Department of Genetics, University of North Carolina-Chapel Hill, 5100 Genetic Medicine [...]

Given the high co-occurrence of depression and parental stress among adolescent mothers, we evaluated the relationship between parental stress and postpartum depression among primiparous adolescent mothers. We conducted an observational analysis among a cohort of 106 adolescent mothers at 289 postpartum visits who were enrolled in a randomized controlled trial to prevent postpartum depression. Parental stress was measured using the Parenting Stress Index, short form. The Structured Clinical Interview for DSM-IV Childhood Diagnoses was administered to assess for postpartum depression; sub threshold depression was assessed using the Children's Depression Rating Scale, revised version. Generalized estimating equations were utilized to assess the relationship of parental stress on postpartum depression during the first 6 months postpartum. We present adjusted odds ratios (AOR) controlling for study arm, age, born in the United States, prior history of depression, and number of study visits. The median age was 16 years, 53% were Latina, and 16% reported a past history of depression. Nineteen adolescents (19%) were diagnosed with postpartum depression and 25% experienced high levels of parental stress through 6 months postpartum. Adolescent mothers who reported higher levels of parental stress were at significantly increased risk for postpartum depression [AOR 1.06 (95% CI 1.04-1.09); p < 0.0001]. High levels of parental stress predicted subsequent postpartum depression when assessing parental stress at visits prior to a depression diagnosis to determine whether we could establish a temporal association [AOR 1.06 (95% CI 1.02-1.09); p < 0.01]. Parental stress was also a risk factor for sub threshold depression [AOR 1.04 (95% CI 1.01-1.07); p < 0.01]. Parental stress was a significant risk factor for developing both postpartum depression as well as sub threshold depression among adolescent mothers. Interventions that target a reduction in parental stress may lead to less depression severity among primiparous adolescent mothers. Keywords Teenage * Pregnancy * Depression * Social support * Parental stress, Introduction Adolescent parenting remains a challenging public health issue and despite decreases in adolescent pregnancy rates over the last decade, approximately 400,000 American women aged 15-19 give birth each year [...]

In light of the increasing availability of generic highly active antiretroviral therapy (HAART) in India, further data are needed to examine variables associated with HAART nonadherence among HIV-infected Indians in clinical care. We conducted a cross-sectional analysis of 198 HIV-infected South Indian men and women between January and April 2008 receiving first-line non-nucleoside reverse transcriptase inhibitor (NNRTI)-based HAART. Nonadherence was defined as taking less than 95% of HAART doses in the last 1 month, and was examined using multivariable logistic regression models. Half of the participants reported less than 95% adherence to HAART, and 50% had been on HAART for more than 24 months. The median CD4 cell count was 435 cells per microliter. An increased odds of nonadherence was found for participants with current CD4 cell counts greater than 500 cells per microliter (adjusted odds ratio [AOR]: 2.22 [95% confidence interval {CI}: 1.044.75]; p = 0.038), who were on HAART for more than 24 months (AOR: 3.07 [95% CI: 1.35-7.01]; p = 0.007), who reported alcohol use (AOR: 5.68 [95%CI: 2.10-15.32]; p = 0.001), who had low general health perceptions (AOR: 3.58 [95%CI: 1.20-10.66]; p = 0.021), and who had high distress (AOR: 3.32 [95%CI: 1.19-9.26]; p = 0.022). This study documents several modifiable risk factors for nonadherence in a clinic population of HIV-infected Indians with substantial HAART experience. Further targeted culturally specific interventions are needed that address barriers to optimal adherence. DOI: 10.1089/apc.2010.0153

Ozone may make asthma symptoms worse in some children, according to a study of 271 children. The children were more likely to wheeze, experience chest tightness and shortness of breath, and use their medications on days when ozone levels were highest. Small particulate matter was not associated with an increase in symptoms.