Faculty Practice as an Educational Strategy: Student, Faculty, and Administrator Perspectives.

BACKGROUND: Outcomes data are deficient in demonstrating the impact of faculty practice on education. PURPOSE: To examine nurse practitioner (NP) student, faculty, and administrator perspectives on faculty practice as an educational strategy. METHODS: NP students, faculty, and administrators from 6 different universities were surveyed. RESULTS: A total of 173 students, 25 faculty members, and 11 administrators participated. Results provide information on perspectives of faculty practice as an educational strategy pertaining to evaluation of education outcomes, overall education, didactic education, and clinical education. CONCLUSION: Faculty practice has educational benefits and brings value to nursing education, although evidentiary support is lacking.

Maternal-Child Microbiome and Impact on Growth and Neurodevelopment in Infants and Children: A Scoping Review.

BACKGROUND: Pathologic changes in the microbiome (dysbiosis) have been implicated in affecting the growth and neurodevelopment of infants and children. There is evidence to suggest that prenatal and postnatal stressors may be a factor in dysbiosis and there is also a growing body of evidence to suggest that interventions may reduce this negative impact. A scoping review was undertaken to identify association between maternal and/or child microbiome with child growth and neurodevelopment. Additionally, intervention studies such as use of nutritional supplementation and its impact on the microbiome, growth and neurodevelopment were reviewed. METHODS: An exhaustive literature search identified 654 relevant citations. After review of abstracts, 557 were eliminated, and 97 remained for full text review. We identified and reported on 42 articles which met inclusion criteria. RESULTS: Seven studies examined associations between microbiome and neurodevelopment and 36 studies evaluated anthropometric measurements, most commonly weight, and microbiota relationships. One study evaluated both growth and neurodevelopment and microbiota. Fourteen studies evaluated supplemental nutrients. Preterm, low birth weight (LBW), and very low birth weight (VLBW) infants were most studied. Findings were inconclusive for consistent associations between microbiota and growth and neurodevelopment. Further, there were no consistent conclusive changes with prescribed treatment interventions. DISCUSSION: There is a need for high-quality longitudinal studies evaluating repeated developmental assessment measures using consistent microbial analysis techniques to inform conclusions regarding the association between microbiome and infant and child growth and neurodevelopment. Additional intervention studies that may mitigate dysbiosis are warranted.

Academic Nursing and Faculty Practice.

BACKGROUND: Many challenges are inherent in academic nursing, and additional unique challenges exist for faculty and nursing programs that simultaneously engage in or offer faculty practice. To date, little has been published on faculty practice and academic nursing outside of the mission of education. PURPOSE: To describe faculty practice within the context of academic nursing as it pertains to scholarship and research, annual evaluations, promotion, support of faculty practice, and additional benefits and challenges. METHODS: A convenience sample of faculty and administrators was surveyed from 6 different universities in the United States. RESULTS: A total of 25 faculty members and 11 administrators participated. Results indicate faculty practice offers both benefits and challenges to the noneducational aspects of academic nursing. CONCLUSION: The benefits and challenges should be carefully considered within the context of the future of academic nursing and faculty practice.

Habit and Routine Interventions with Emerging Adults with Diabetes: An Integrative Review.

Although theoretical and empirical writings on habits and routines are a promising body of science to guide interventions, little is known about such interventions among emerging adults with type 1 diabetes. Thus, an integrative review was conducted to describe interventions in relation to habits and routines, their influence on outcomes, and users' perspectives. A medical librarian conducted a search. Teams screened titles, abstracts, and articles based upon predefined criteria. Evidence from the final 11 articles was synthesized. A minority of investigators explicitly articulated habits and routines theoretical underpinnings as part of the interventions. However, text messaging or feedback via technology used in other interventions could be implicitly linked to habits and routines. For the most part, these interventions positively influenced diabetes self-management-related behaviors and health outcomes. In general, the interventions were perceived positively by users. Future research is advocated using habit and routine theoretical underpinnings to guide interventions.

Perceived impact of faculty practice on nurse practitioner education.

BACKGROUND: Faculty practice is believed to positively affect health education, however limited research exists on the impact of faculty practice on nurse practitioner education. PURPOSE: The purpose was to explore the perceived impact of faculty practice on nurse practitioner education. METHODS: A preliminary mixed methods approach was used to evaluate nurse practitioner student and faculty perspectives on the impact of faculty practice on nurse practitioner education. Student group interviews were conducted and practicing faculty were surveyed. RESULTS: Study findings included student and faculty-perceived benefits and challenges of faculty practice on nurse practitioner education. Specific benefits were increased access to faculty preceptors and clinical sites for nurse practitioner students, influencing faculty-developed education materials, increased number of real-world examples, faculty credibility, applying evidence-based practice, and overall improvement in the quality of teaching. Specific challenges were time, faculty availability to students, managing multiple roles, and clinical sites not conducive to precepting. CONCLUSION: This study provided preliminary information on the perceived impact of faculty practice on nurse practitioner education including the benefits and challenges. Findings support faculty practice as having a positive perceived impact on nurse practitioner education.

Autism spectrum disorder and genetic testing: Parental perceptions and decision-making.

PURPOSE: Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk. Genetic testing is relatively complicated, expensive, and, currently, in the majority of the cases, does not provide any organic improvement in the management of symptoms. DESIGN AND METHODS: We conducted semistructured interviews with 20 parents to explore the decision-making process of genetic testing from the perspectives and experiences of parents of children with ASD. Data were analyzed using qualitative content analysis. RESULTS: Parents had limited knowledge of genetic testing for ASD prior to a genetics clinic visit. The majority of the participants thought genetic testing would be beneficial for their child, their reproductive choices, and potential future generations. PRACTICE IMPLICATIONS: Various stakeholders (geneticists, primary care providers, nurses, and families) would benefit from future establishment of educational strategies to inform parental decision-making regarding genetic testing for children with ASD.

Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.

OBJECTIVE: PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-. METHODS: This study compared sleep phenotypes of nine subjects with PAX6+/- (aged 10-19 years) with previously published data on healthy adolescents ( n = 25, aged 10-18 years). Subjects completed the Cleveland Adolescent Sleepiness Questionnaire (CASQ), Patient Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance (v. 1.0; 8a), and PROMIS Sleep-Related Impairment (v. 1.0; 8b) Questionnaires and wore actigraphs for seven nights to record sleep patterns. RESULTS: Total CASQ, PROMIS sleep-related impairment, and PROMIS sleep disturbance scores were not statistically different between the groups ( ps > .15). Actigraph data for lights off to sleep-onset time were found to be significantly higher in subjects with PAX6+/- versus the healthy comparison group (adjusted mean [95% confidence interval]: 20.1 min [8.1, 49.8] vs. 6.2 min [3.7, 10.4], respectively, p = .04). CONCLUSION: Both adolescents with PAX6+/- and the healthy comparison group on average slept less than 8 hr/night, and overall sleep deprivation in adolescents may have masked differences between groups. This study used rare genetic disorders with biological vulnerability to sleep problems as a genotype-phenotype model. Knowledge of sleep-related phenotypes will assist in designing studies to manage sleep-related symptoms in adolescents.

PROMIS Sleep Disturbance and Sleep-Related Impairment in Adolescents: Examining Psychometrics Using Self-Report and Actigraphy.

BACKGROUND: The National Institutes of Health Patient-Reported Outcomes Measurement Information System (PROMIS) has self-reported health measures available for both pediatric and adult populations, but no pediatric measures are available currently in the sleep domains. OBJECTIVE: The purpose of this observational study was to perform preliminary validation studies on age-appropriate, self-reported sleep measures in healthy adolescents. METHODS: This study examined 25 healthy adolescents' self-reported daytime sleepiness, sleep disturbance, sleep-related impairment, and sleep patterns. Healthy adolescents completed a physical exam at the National Institutes of Health Clinical Center (Bethesda, MD), had no chronic medical conditions, and were not taking any chronic medications. The Cleveland Adolescent Sleepiness Questionnaire (CASQ), PROMIS Sleep Disturbance (v. 1.0; 8a), and PROMIS Sleep-Related Impairment (v. 1.0; 8b) questionnaires were completed, and sleep patterns were assessed using actigraphy. RESULTS: Total scores on the three sleep questionnaires were correlated (all Spearman's r > .70, p < .001). Total sleep time determined by actigraphy was negatively correlated with the CASQ (p = .01), PROMIS Sleep Disturbance (p = .02), and PROMIS Sleep-Related Impairment (p = .02). DISCUSSION: The field of pediatric sleep is rapidly expanding, and researchers and clinicians will benefit from well-designed, psychometrically sound sleep questionnaires. Findings suggest the potential research and clinical utility of adult versions of PROMIS sleep measures in adolescents. Future studies should include larger, more diverse samples and explore additional psychometric properties of PROMIS sleep measures to provide age-appropriate, validated, and reliable measures of sleep in adolescents.

Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.

In rodent studies, paired box 6 (PAX6) appears to play an important role in the development of the pineal, the primary source of the circadian regulating hormone, melatonin. Pineal hypoplasia has been previously reported in patients with PAX6 haploinsufficiency (+/−); however, pineal measurement, melatonin concentrations and sleep quality have not been reported. This cross-sectional descriptive study examined pineal volume, melatonin secretion and sleep disturbance in 37 patients with PAX6+/− (age 15.3 ± 9.9 years) and 17 healthy controls (16.0 ± 7.2 years), within an inpatient setting at the Clinical Research Center of the National Institutes of Health, Bethesda, Maryland, USA. Pineal volume was evaluated by magnetic resonance imaging. Diurnal serum cortisol, serum melatonin and urine 6-sulphatoxymelatonin concentrations were measured by enzyme-linked immunosorbent assay. The Child Sleep Habits Questionnaire was administered for patients <13 years old. Pineal volume was fivefold lower in PAX6+/− versus controls (mean ± SD: 25 ± 15 versus 129 ± 50 µL, P < 0.001). Midnight serum cortisol was similar in PAX6+/− versus controls (P = 0.14). Midnight serum melatonin was > twofold lower in PAX6+/− versus controls [median (25th-75 th): 28 (22-42) versus 71 (46-88) pg mL-(1), P < 0.001]. First morning void urinary 6-sulphatoxymelatonin was fourfold lower in PAX6+/− versus controls [11 (6-26) versus 45 (34-61) ng mg(-1) Cr, P = 0.001]. Child Sleep Habits Questionnaire score was higher in PAX6+/− versus controls (48 ± 6 versus 41 ± 5, P = 0.03). The current findings suggest that PAX6+/− is associated with smaller pineal size, lower melatonin secretion and greater parental report of sleep disturbances in children. Further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/−.

The disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice.

Although there are numerous position papers on the issues and challenges surrounding disclosure of incidental genomic findings involving children, there is very little research. To fill this gap, the purpose of this study was to explore the perspectives of multiple professional (N = 103) and public (N = 63) stakeholders using both interviews and focus groups. Using qualitative analysis, we identified one overarching theme, "It's hard for us; it's hard for them," and three subthemes/questions: "What to disclose?," "Who gets the information?," and "What happens later?" Perspectives differed between professional (Institutional Review Board chairs, clinicians, and researchers) and public stakeholders. While professionals focused on the complexities of what to disclose, the lay public stated that parents should have all information laid out for them. Professionals pondered multiple parent and child situations, while the public identified parents as informational gatekeepers who know their children best. Professionals described the potential requirement for follow-up over time as a logistical "nightmare," while the public believed that parents have the responsibility for managing their children's health information over time. However, the parent role as gatekeeper was seen as time limited and in need of professional support and backup. Our findings present a case for needed dialogue around what we propose as an "ethically important moment," with the goal of protecting and respecting the viewpoints of all stakeholders when policies regarding children are developed.

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size near the BDNF locus and can serve as a model for studying human BDNF haploinsufficiency (+/-). We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. Twenty-eight subjects with WAGR syndrome (6-28 years), 12 subjects with isolated aniridia due to PAX6 mutations/microdeletions (7-54 years), and 20 healthy controls (4-32 years) received neurocognitive assessments. Deletion boundaries for the subjects in the WAGR group were determined by high-resolution oligonucleotide array comparative genomic hybridization. Within the WAGR group, BDNF+/- subjects (n = 15), compared with BDNF intact (+/+) subjects (n = 13), had lower adaptive behaviour (p = .02), reduced cognitive functioning (p = .04), higher levels of reported historical (p = .02) and current (p = .02) social impairment, and higher percentage meeting cut-off score for autism (p = .047) on Autism Diagnostic Interview-Revised. These differences remained nominally significant after adjusting for visual acuity. Using diagnostic measures and clinical judgement, 3 subjects (2 BDNF+/- and 1 BDNF+/+) in the WAGR group (10.7%) were classified with autism spectrum disorder. A comparison group of visually impaired subjects with isolated aniridia had cognitive functioning comparable to that of healthy controls. In summary, among subjects with WAGR syndrome, BDNF+/- subjects had a mean Vineland Adaptive Behaviour Compose score that was 14-points lower and a mean intelligence quotient (IQ) that was 20-points lower than BDNF+/+ subjects. Our findings support the hypothesis that BDNF plays an important role in human neurocognitive development.