'They don't think I can do it': Experiences of self-advocates, employment specialists, and employers on employment of adults with intellectual disability.

BACKGROUND: A multi-phase Canadian study was conducted as part of a large-scale community and academic research partnership focused on understanding and improving the employment experiences of people with intellectual disabilities. METHOD: This multi-method study utilized a sequential approach, using findings from qualitative interviews (n = 28) to inform an online survey (n = 149). Participants were invited to share their experiences with paid employment or with persons with intellectual disabilities. RESULTS: Thematic analysis of data across interview and survey findings resulted in six themes: (1) assumptions and attitudes, (2) knowledge and awareness, (3) accessibility of processes, (4) use of accommodations, (5) workplace relationships, and (6) supports and resources. CONCLUSIONS: A holistic and systemic approach has the potential to improve inclusive employment experiences of people with intellectual disabilities. Action is needed mainly at the policy and employer level to reduce barriers and improve on facilitating measures reinforced by the themes shared in this study.

Pediatric Endocrinology Milestones 2.0-guide to their implementation.

The Milestones were initiated by the Accreditation Council for Graduate Medical Education (ACGME) to provide a framework for monitoring a trainee's progression throughout residency/fellowship. The Milestones describe stepwise skill progression through six core domains of clinical competency: Patient Care, Medical Knowledge, Interpersonal and Communication Skills, Practice-based Learning and Improvement, Professionalism, and Systems-based Practice. Since their introduction in 2013, several barriers to implementation have emerged. Thus, the ACGME launched the Milestones 2.0 project to develop updated specialty-specific milestones. The Pediatric Endocrinology Milestones 2.0 project aimed to improve upon Milestones 1.0 by addressing common limitations, providing resources for faculty to easily incorporate milestones into their assessment of trainees, and adding sub-competencies in health disparities, patient safety, and physician well-being.This paper reviews the development of the Pediatric Endocrinology Milestones 2.0 including the major changes from Milestones 1.0, development of the Supplemental Guide, and how Milestones 2.0 can be applied at the program level. Although use of the Milestones are required only for ACGME programs, the tools provided in Milestones 2.0 are applicable to fellowship programs worldwide.

Changes in Cardiac Function During a Swallow Exercise Program in Patients with Coronary Artery Disease.

Research regarding risks of swallow treatment suggests that patients with coronary artery disease (CAD) experience changes in heart rate/rhythm when completing the supraglottic swallow and super-supraglottic swallow. The current study evaluated cardiac function during multiple swallowing exercises in patients with dysphagia and CAD. Eligible patients had CAD and confirmed pharyngeal dysphagia from VFS and sufficient cognitive ability to follow direction. The protocol included an a priori concealed randomized order of seven swallowing exercises (supraglottic swallow, super-supraglottic swallow, Mendelsohn and Masako maneuvers, effortful swallow with and without breath hold, and jaw opening exercise). Objective measures of heart rate/rhythm, oxygen saturation, and blood pressure were compared before vs after the overall session and each exercise using the Wilcoxon signed-rank test, and McNemar's and Cochran's Q tests with alpha at 0.05 and power at 0.80. Participants were 20 adults (15 male), aged 28-88 (median 76.5 years). 90% were intubated during their hospital stay (44% > 1 intubation) and 20% suffered post-op stroke. Severe dysphagia, marked by NPO status, occurred in 30% of patients. Sessions were 26 min long (mean; SD = 2.29). With few exceptions, objective measures were stable pre vs post overall and after each exercise. Potential vulnerability was noted with increased heart rate after the super-supraglottic swallow and increased arrhythmias after the effortful swallow (p < 0.05 for both). The order that swallowing exercises were completed did not significantly impact cardiovascular function. Telemetry and pulse oximetry proved to be feasible tools to monitor for subtle changes in cardiovascular function during completion of swallowing exercises.

Parental leave during pediatric fellowship training: A national survey.

BACKGROUND: Until recently, no uniform requirements for parental leave (PL) existed in graduate medical education. We implemented a national survey, with the objective of ascertaining fellows' perceptions of PL policies and their impact. This is the first study to focus exclusively on pediatric subspecialty fellows. METHODS: An online survey instrument was created targeting pediatric fellows. RESULTS: The survey was accessed by 1003 (25%) of the estimated 4078 pediatric subspecialty fellows and 853 (21%) submitted surveys. Respondent demographic data paralleled the data reported by the American Board of Pediatrics. Half of respondents did not know whether their program had a written PL policy. Over 40% reported ≥ 5 weeks of paid PL. Most indicated that fellows use vacation, sick leave, and unpaid time for PL. Almost half of respondents (45%) indicated that their program's PL policy increases the stress of having a child. Fellows chose establishing/extending paid leave and intentionally fostering a more supportive program culture as the most crucial candidate improvements. The importance of equitable PL polices between parent fellows and co-fellows was an important theme of our qualitative data. Fellows feel there is a moral misalignment between the field of pediatrics' dedication to maternal and child health and current PL policies governing pediatric trainees. CONCLUSIONS: PL policies vary widely among pediatric fellowship programs and are often not known by fellows. Fellows are not satisfied with PL policies, which often exacerbate stress for new parents and burden their co-fellows. Targeted modification of several aspects of PL policies may improve their acceptance.

Hepatic abnormalities in youth with Turner syndrome.

BACKGROUND & AIMS: Liver disease in children with Turner Syndrome (TS) is poorly understood relative to associated growth, cardiac and reproductive complications. This study sought to better characterize hepatic abnormalities in a large national cohort of youth with TS. METHODS: Using electronic health record data from PEDSnet institutions, 2145 females with TS were matched to 8580 females without TS on eight demographic variables. Outcomes included liver enzymes (AST and ALT) stratified as normal, 1-2 times above the upper limit of normal (ULN), 2-3 times ULN and >3 times ULN, as well as specific liver disease diagnoses. RESULTS: Fifty-eight percent of youth with TS had elevated liver enzymes. Patients with TS had higher odds of enzymes 1-2 times ULN (OR: 1.7, 95% CI: 1.4-1.9), 2-3 times ULN (OR: 2.7, 95% CI: 1.7-3.3) and >3 times ULN (OR: 1.7, 95% CI: 1.3-2.2). They also had higher odds of any liver diagnosis (OR: 2.4, 95% CI: 1.7-3.3), fatty liver disease (OR: 1.9, 95% CI: 1.1-3.2), hepatitis (OR: 3.7, 95% CI: 1.9-7.1), cirrhosis/fibrosis (OR: 5.8, 95% CI: 1.3-25.0) and liver tumour/malignancy (OR: 4.8, 95% CI: 1.4-17.0). In a multinomial model, age, BMI and presence of cardiovascular disease or diabetes significantly increased the odds of elevated liver enzymes in girls with TS. CONCLUSIONS: Youth with TS have higher odds for elevated liver enzymes and clinically significant liver disease compared with matched controls. These results emphasize the need for clinical screening and additional research into the aetiology and treatment of liver disease in TS. LAY SUMMARY: Turner Syndrome, a chromosomal condition in which females are missing the second sex chromosome, is often associated with short stature, infertility and cardiac complications. Liver abnormalities are less well described in the literature. In this study, nearly 60% of youth with TS have elevated liver enzymes. Furthermore, patients with TS had a diagnosis of liver disease more often than patients without TS. Our results support the importance of early and consistent liver function screening and of additional research to define mechanisms that disrupt liver function in paediatric TS females.

Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.

Individuals mosaic for monosomy X and a cell line with Y chromosome material can have genitalia that appear phenotypical female, male, or ambiguous. Those with this karyotype and typical female genitalia are diagnosed with Turner syndrome; however, this definition specifically excludes those with genitalia other than typical female. There is limited information on whether medical and neurodevelopmental risks are similar among individuals with monosomy X and Y chromosome material across genital phenotypes. This multicenter retrospective study compared comorbidities and clinical management in individuals with monosomy X and Y material and male/ambiguous genitalia to those with typical female genitalia. Electronic medical records for all patients with monosomy X and Y material (n = 76) at two large U.S. pediatric centers were abstracted for predetermined data and outcomes. Logistic regression was used to compare the two phenotypic groups adjusting for site and duration of follow-up. The male/ambiguous genitalia group was just as likely to have congenital heart disease (RR 1.0, 95%CI [0.5-1.9]), autoimmune disease (RR 0.6 [0.2-1.3]), and neurodevelopmental disorders (RR 1.4 [0.8-1.2]) as those with female genitalia. Despite similar risks, they were less likely to receive screening and counseling. In conclusion, individuals with monosomy X and Y chromosome material have similar medical and neurodevelopmental risks relative to individuals with Turner syndrome regardless of genitalia, but there are notable differences in clinical management.

The importance of clinical documentation improvement for Australian hospitals.

Clinical documentation improvement (CDI) is a recent initiative gaining increased momentum in Australia. The benefits surrounding its success internationally include improved quality and patient safety outcomes and increased reimbursement. The premise of CDI is simple: engage clinicians to improve the clinical documentation in the medical record in "real time" so that it is fit for reporting, analysis and reimbursement. Every country has differing healthcare systems and this article has focused on validating the relevancy of CDI for the Australian healthcare environment.

Hypo and Hyper: Common Pediatric Endocrine and Metabolic Emergencies.

The presentation of endocrine and metabolic emergencies represents one of the more challenging clinical scenarios faced by pediatricians and emergency providers. In this review, the authors attempt to describe some of the more common entities that a provider may see and provide a guide for the recognition and management of these difficult-to-assess and often very ill children.

Male song quality modulates c-Fos expression in the auditory forebrain of the female canary.

In canaries, specific phrases of male song (sexy songs, SS) that are difficult to produce are especially attractive for females. Females exposed to SS produce more copulation displays and deposit more testosterone into their eggs than females exposed to non-sexy songs (NS). Increased expression of the immediate early genes c-Fos or zenk (a.k.a. egr-1) has been observed in the auditory forebrain of female songbirds hearing attractive songs. C-Fos immunoreactive (Fos-ir) cell numbers were quantified here in the brain of female canaries that had been collected 30min after they had been exposed for 60min to the playback of SS or NS or control white noise. Fos-ir cell numbers increased in the caudomedial mesopallium (CMM) and caudomedial nidopallium (NCM) of SS birds as compared to controls. Song playback (pooled SS and NS) also tended to increase average Fos-ir cell numbers in the mediobasal hypothalamus (MBH) but this effect did not reach full statistical significance. At the individual level, Fos expression in CMM was correlated with its expression in NCM and in MBH but also with the frequency of calls that females produced in response to the playbacks. These data thus indicate that male songs of different qualities induce a differential metabolic activation of NCM and CMM. The correlation between activation of auditory regions and of the MBH might reflect the link between auditory stimulation and changes in behavior and reproductive physiology.

Neurocognitive responses to a single session of static squats with whole body vibration.

The purpose of this study was to determine if the head accelerations using a common whole body vibration (WBV) exercise protocol acutely reduced neurocognition in healthy subjects. Second, we investigated differential responses to WBV plates with 2 different delivery mechanisms: vertical and rotational vibrations. Twelve healthy subjects (N = 12) volunteered and completed a baseline (BASE) neurocognitive assessment: the Immediate Postconcussion Assessment and Cognitive Test (ImPACT). Subjects then participated in 3 randomized exercise sessions separated by no more than 2 weeks. The exercise sessions consisted of five 2-minute sets of static hip-width stance squats, with the knees positioned at a 45° angle of flexion. The squats were performed with no vibration (control [CON]), with a vertically vibrating plate (vertical vibration [VV]), and with a rotational vibrating plate (rotational vibration [RV]) set to 30 Hz with 4 mm of peak-to-peak displacement. The ImPACT assessments were completed immediately after each exercise session and the composite score for 5 cognitive domains was analyzed: verbal memory, visual memory, visual motor speed, reaction time, and impulse control. Verbal memory scores were unaffected by exercise with or without vibration (p = 0.40). Likewise, visual memory was not different (p = 0.14) after CON, VV, or RV. Significant differences were detected for visual motor speed (p = 0.006); VV was elevated compared with BASE (p = 0.01). There were no significant differences (p = 0.26) in reaction time or impulse control (p = 0.16) after exercise with or without vibration. In healthy individuals, 10 minutes of 30 Hz, 4-mm peak-to-peak displacement vibration exposure with a 45° angle of knee flexion did not negatively affect neurocognition.

Anatomically discrete sex differences and enhancement by testosterone of cell proliferation in the telencephalic ventricle zone of the adult canary brain.

Previous work in songbirds has suggested that testosterone increases neuronal recruitment and survival in HVC but does not affect neuronal proliferation in the ventricular zone and that males and females have similar rates of proliferation except at discrete locations. Many of these conclusions are however based on limited data or were inferred indirectly. Here we specifically tested the effects of testosterone on cellular proliferation in the ventricular zone of both male and female adult canaries. We implanted adult birds of both sexes with testosterone or empty implants for 1 week and injected them with BrdU. One day later, we collected their brains and quantified BrdU-positive cells in the ventricular zone (VZ) at different rostro-caudal levels of the brain, ranging from the level where the song nucleus Area X occurs through the caudal extent of HVC. Proliferation in the dorsal part of the VZ was low and unaffected by sex or testosterone treatment. In the ventral part of the VZ, females had more proliferating cells than males, but only at rostral levels, near Area X. Also in the ventral part of the VZ, testosterone increased proliferation in birds of both sexes, but only in the mid- to caudal-VZ, caudal to the level of Area X, around the septum and HVC. We thus demonstrate here that there is both an effect of testosterone and possibly a more subtle effect of sex on cellular proliferation in the adult songbird brain, and that these effects are specific to different levels of the brain.

A new method for in vitro detection of bromodeoxyuridine in serum: a proof of concept in a songbird species, the canary.

Systemic injection of a thymidine analogue such as bromodeoxyuridine (BrdU) in vertebrates is commonly used to detect and study cell production during development, adulthood, and pathology, particularly in studies of adult neurogenesis. Although researchers are applying this technique to multiple species in various physiological conditions, the rate of BrdU clearance from the serum remains unknown in most cases. Changes in this clearance rate as a function of the species, sex or endocrine condition could however profoundly affect the interpretation of the results. We describe a rapid, sensitive, but simple bioassay for post-injection detection and quantification of BrdU in serum. This procedure was shown to be suitable for determining the length of time a thymidine analogue remains in the bloodstream of one avian species and seems applicable to any vertebrate provided sufficiently large blood samples can be collected. This technique was used to demonstrate that, in canaries, BrdU injected at a dose of 100 mg/kg is no longer available for incorporation into DNA between 30 and 60 min post-injection, a delay shorter than anticipated based on the available literature. Preliminary data suggest a similar fast clearance in Japanese quail and mice.

Congenital adrenal hyperplasia and the second newborn screen.

OBJECTIVE: To evaluate the effectiveness of a second newborn screen for congenital adrenal hyperplasia (CAH) in the state of Colorado and report characteristics associated with cases identified on the first versus second screen. STUDY DESIGN: Colorado implemented newborn screening for CAH with 17-hydroxyprogesterone beginning August 2000. The first screening is performed within 72 hours of life and the second between 8 and 14 days of life. We compared infants diagnosed on the basis of the first versus second newborn screen. RESULTS: The first screen identified 29 cases of which 28 represented classical CAH. The incidence of classical CAH on the first screen was 1:24,766. The second screen identified 17 additional cases, of which 11 represented classical CAH. Combined, the incidence of classical CAH was 1:17,789. The sensitivity of the first screen was 71.79%. The false negative rate of the first screen was 28.2%. In the absence of a second screen, 1:47,824 infants would have been missed. Infants diagnosed on the first screen had higher 17-hydroxyprogesterone values compared with those diagnosed on the second screen (P = .0008). CONCLUSIONS: The use of a single newborn screen for CAH missed nearly 30% of classical CAH cases in Colorado. Addition of a second screen, therefore, can improve the operating characteristics of the newborn screening program.

Predicting the onset of Addison's disease: ACTH, renin, cortisol and 21-hydroxylase autoantibodies.

CONTEXT: Autoantibodies to 21-hydroxylase (21OH-AA) precede onset of autoimmune Addison's disease (AD). Progression to AD can take months to years, and early detection of metabolic decompensation may prevent morbidity and mortality. OBJECTIVE: To define optimal methods of predicting progression to overt AD (defined by subnormal peak cortisol response to Cosyntropin) in 21OH-AA+ individuals. DESIGN, SETTING AND PARTICIPANTS: Individuals were screened for 21OH-AA at the Barbara Davis Center from 1993 to 2011. Subjects positive for 21OH-AA (n = 87) were tested, and the majority prospectively followed for the development of Addison's disease, including seven diagnosed with AD upon 21OH-AA discovery (discovered), seven who progressed to AD (progressors) and 73 nonprogressors. MAIN OUTCOME MEASURED: Plasma renin activity (PRA), ACTH, baseline cortisol, peak cortisol and 21OH-AA were measured at various time points relative to diagnosis of AD or last AD-free follow-up. RESULTS: Compared with nonprogressors, in the time period 2 months-2 years prior to the onset of AD, progressors were significantly more likely to have elevated ACTH (11-22 pM, P < 1E-4), with no significant differences in mean PRA (P = 0·07) or baseline cortisol (P = 0·08), and significant but less distinct differences seen with 21OH-AA levels (P < 1E-4) and poststimulation cortisol levels (P = 6E-3). CONCLUSION: Moderately elevated ACTH is a more useful early indicator of impending AD than 21OH-AA, PRA or peak cortisol, in the 2 months-2 years preceding the onset of AD.

Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab.

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECD) is a disorder caused by mutations in the autoimmune regulator (AIRE) gene. In some APS-1 patients, significant pulmonary disease is observed. Autoantibodies directed against the potassium channel regulatory protein (KCNRG), found in epithelial cells of terminal bronchioles, have been suggested as a marker for pulmonary disease in APS-1 patients. We report two patients with APS-1; one with and one without lung disease. Patient 1 had multiple admissions for pneumonia and respiratory insufficiency, required non-invasive ventilation, and had findings of bronchiectasis on thoracic imaging and significant lymphocytic infiltrates of the airways on lung biopsy. To verify the autoimmune cause of pulmonary symptoms APS-1 patients, both were tested in a blinded manner for the presence of autoantibodies to KCNRG in serum. We found that only Patient 1 had autoantibodies present. Additionally, Patient 1 had progressive disease despite treatment with several immunomodulating agents, including corticosteroids, azathioprine, and mycophenolate. Patient 1 had a lung biopsy performed which was consistent with B cell lymphocytic aggregates. Rituximab treatment was initiated with apparent good response. This report illustrates the practical use of KCNRG autoantibodies to identify APS-1 patients with pulmonary risk and the successful use of the monoclonal antibody, Rituximab, to treat pulmonary disease in APS-1 patients.

From pattern to purpose: how comparative studies contribute to understanding the function of adult neurogenesis.

The study of adult neurogenesis has had an explosion of fruitful growth. Yet numerous uncertainties and challenges persist. Our review begins with a survey of species that show evidence of adult neurogenesis. We then discuss how neurogenesis varies across brain regions and point out that regional specializations can indicate functional adaptations. Lifespan and aging are key life-history traits. Whereas 'adult neurogenesis' is the common term in the literature, it does not reflect the reality of neurogenesis being primarily a 'juvenile' phenomenon. We discuss the sharp decline with age as a universal trait of neurogenesis with inevitable functional consequences. Finally, the main body of the review focuses on the function of neurogenesis in birds and mammals. Selected examples illustrate how our understanding of avian and mammalian neurogenesis can complement each other. It is clear that although the two phyla have some common features, the function of adult neurogenesis may not be similar between them and filling the gaps will help us understand neurogenesis as an evolutionarily conserved trait to meet particular ecological pressures.

Androgens and estrogens synergistically regulate the expression of doublecortin and enhance neuronal recruitment in the song system of adult female canaries.

Vocal control nuclei in songbirds display seasonal changes in volume that are regulated by testosterone (T) and its androgenic (5α-dihydrotestosterone; DHT) or estrogenic (17ß-estradiol; E(2)) metabolites. In male canaries, T regulates expression of the microtubule-associated protein doublecortin (DCX), a marker of neurogenesis. We examined the effect of T and its two metabolites alone or in combination on DCX expression in adult female canaries. Treatment with T or with DHT+E(2) increased HVC volume and neuron numbers as well as the total numbers of fusiform (migrating) and round (differentiating) DCX neurons in the nucleus but generally not in adjacent areas. DHT or E(2) alone did not increase these measures but increased the density of fusiform DCX cells per section. Similar results were observed in area X, although some effects did not reach significance, presumably because plasticity in X is mediated transsynaptically and follows HVC changes with some delay. There was no effect of any treatment on the total number of neurons in area X, and no change in DCX cell densities was detected in the lateral magnocellular nucleus of the anterior nidopallium, nor in other parts of the nidopallium. DHT and E(2) by themselves thus increase density of DCX cells migrating through HVC but are not sufficient in isolation to induce the recruitment of these newborn neurons in the nucleus. These effects are generally not observed in the rest of the nidopallium, implying that steroids only act on the attraction and recruitment of new neurons in HVC without having any major effects on their production at the ventricle wall.