Life Span Institute
https://hdl.handle.net/1808/238
The Schiefelbusch Institute for Life Span Studies at the University of Kansas2024-03-28T13:01:16ZClinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study
https://hdl.handle.net/1808/34751
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study
Bojanek, Erin K.; Mosconi, Matthew W.; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin H.
Nuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This study describes the clinical and neurocognitive features of an individual with a de novo nonsense variant in NR2F1 (NM_005654.5:c.82C > T, p.Gln28*), identified by whole exome sequencing. The patient was diagnosed with autism spectrum disorder (ASD) and unlike most previously reported cases, he had no developmental delay, superior verbal abilities (verbal IQ = 141), and high educational attainment despite reduced nonverbal abilities (nonverbal IQ = 63). He had optic nerve hypoplasia with minimal visual impairment as well as mild dysmorphic features. Compared to both age-matched individuals with ASD and healthy controls, the patient showed reductions in manual motor speed, accuracy of saccadic eye movements, and rates of successful behavioral response inhibition. Although the majority of previously reported cases of BBSOAS have been associated with more global intellectual dysfunction, we report on a patient with selective disruption of nonverbal abilities and superior verbal abilities.
This is the peer reviewed version of the following article: Bojanek, EK, Mosconi, MW, Guter, S, Betancur, C, Macmillan, C, Cook, EH. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Am J Med Genet Part A. 2020; 182: 213–218. https://doi.org/10.1002/ajmg.a.61409, which has been published in final form at https://doi.org/10.1002/ajmg.a.61409. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
2019-11-15T00:00:00ZRecruitment and reach in a school-based pediatric obesity intervention trial in rural areas
https://hdl.handle.net/1808/34584
Recruitment and reach in a school-based pediatric obesity intervention trial in rural areas
Forseth, Bethany; Lancaster, Brittany; Olalde, Megan; Befort, Christie A.; Swinburne Romine, Rebecca E.; Dreyer Gillette, Meredith L.; Dean, Kelsey M.; Nelson, Eve-Lynn; Davis, Ann M.
Introduction: The purpose of this study is to evaluate two recruitment strategies on schools and participant participation rates and representativeness (reach) within a pediatric obesity treatment trial tailored for families who live in rural areas.
Methods: Recruitment of schools was evaluated based on their progress toward enrolling participants. Recruitment and reach of participants were evaluated using (1) participation rates and (2) representativeness of demographics and weight status of participants compared to eligible participants (who did not consent and enroll) and all students (regardless of eligibility). School recruitment, as well as participant recruitment and reach, were evaluated across recruitment methods comparing opt-in (i.e., caregivers agreed to allow their child to be screened for eligibility) vs. screen-first (i.e., all children screened for eligibility).
Results: Of the 395 schools contacted, 34 schools (8.6%) expressed initial interest; of these, 27 (79%) proceeded to recruit participants, and 18 (53%) ultimately participated in the program. Of schools who initiated recruitment, 75% of schools using the opt-in method and 60% of schools using the screen-first method continued participation and were able to recruit a sufficient number of participants. The average participation rate (number of enrolled individuals divided by those who were eligible) from all 18 schools was 21.6%. This percentage was higher in schools using the screen-first method (average of 29.7%) compared to schools using the opt-in method (13.5%). Study participants were representative of the student population based on sex (female), race (White), and eligibility for free and reduced-price lunch. Study participants had higher body mass index (BMI) metrics (BMI, BMIz, and BMI%) than eligible non-participants.
Conclusions: Schools using the opt-in recruitment were more likely to enroll at least 5 families and administer the intervention. However, the participation rate was higher in screen-first schools. The overall study sample was representative of the school demographics.
2023-06-01T00:00:00ZHigh-Intensity Functional Training: Perceived Functional and Psychosocial Health-Related Outcomes from Current Participants with Mobility-Related Disabilities
https://hdl.handle.net/1808/34577
High-Intensity Functional Training: Perceived Functional and Psychosocial Health-Related Outcomes from Current Participants with Mobility-Related Disabilities
Koon, Lyndsie M.; Hall, Jean P.; Arnold, Kristen A.; Donnelly, Joseph E.; Heinrich, Katie M.
Background: People with mobility-related disabilities (MRDs) experience many personal and environmental barriers to engagement in community-based exercise programs. We explored the experiences of adults with MRD who currently participate in high-intensity functional training (HIFT), an inclusive and accessible community-based exercise program. Methods: Thirty-eight participants completed online surveys with open-ended questions, with ten individuals also participating in semi-structured interviews via telephone with project PI. Surveys and interviews were designed to examine changes to perceived health, and the elements of HIFT that promote sustained participation. Results: Thematic analysis revealed themes related to health changes following HIFT participation including improved physical, functional, and psychosocial health outcomes. Other themes emerged within the HIFT environment that promoted adherence for participants such as accessible spaces and equipment, and inclusive HIFT sessions and competitions. Additional themes included participants’ advice for the disability and healthcare communities. The resulting themes are informed by the World Health Organization’s International Classification of Functioning, Disability, and Health. Conclusion: The findings provide initial data on the potential effects of HIFT on multiple dimensions of health outcomes and contribute to the growing literature on community-based programs that are adaptable and inclusive for people with MRD.
2023-06-12T00:00:00ZCost-effectiveness of Lifestyle Africa: an adaptation of the diabetes prevention programme for delivery by community health workers in urban South Africa
https://hdl.handle.net/1808/34334
Cost-effectiveness of Lifestyle Africa: an adaptation of the diabetes prevention programme for delivery by community health workers in urban South Africa
Whittington, Melanie D.; Goggin, Kathy; Tsolekile, Lungiswa; Puoane, Thandi; Fox, Andrew T.; Resnicow, Ken; Fleming, Kandace K.; Smyth, Joshua M.; Materia, Frank T.; Hurley, Emily A.; Vitolins, Mara Z.; Lambert, Estelle V.; Levitt, Naomi S.; Catley, Delwyn
Background
Lifestyle Africa is an adapted version of the Diabetes Prevention Program designed for delivery by community health workers to socioeconomically disadvantaged populations in low- and middle-income countries (LMICs). Results from the Lifestyle Africa trial conducted in an under-resourced community in South Africa indicated that the programme had a significant effect on reducing haemoglobin A1c (HbA1c).
Objective
To estimate the cost of implementation and the cost-effectiveness (in cost per point reduction in HbA1c) of the Lifestyle Africa programme to inform decision-makers of the resources required and the value of this intervention.
Methods
Interviews were held with project administrators to identify the activities and resources required to implement the intervention. A direct-measure micro-costing approach was used to determine the number of units and unit cost for each resource. The incremental cost per one point improvement in HbA1c was calculated.
Results
The intervention equated to 71 United States dollars (USD) in implementation costs per participant and a 0.26 improvement in HbA1c per participant.
Conclusions
Lifestyle Africa reduced HbA1c for relatively little cost and holds promise for addressing chronic disease in LMIC. Decision-makers should consider the comparative clinical effectiveness and cost-effectiveness of this intervention when making resource allocation decisions.
2023-05-23T00:00:00Z