Publications by authors named "S H Blanton"
Age-related macular degeneration (AMD) is a leading cause of blindness with $344 billion dollars global costs. In 2016, the International Age-related Macular Degeneration Genomics Consortium devised genomic data on ∼50,000 individuals (IAMDGC 1.0) and identified 52 variants across 34 loci associated with advanced AMD in European ancestry.
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- Usher syndrome (USH) is a genetic disorder causing early onset deaf-blindness, diagnosed through retinitis pigmentosa and sensorineural hearing loss; subtypes are classified by severity and age of onset.
- In a review of 198 patients at Bascom Palmer Eye Institute, 96% were clinically diagnosed with USH, but only 35% had genetic testing with a pathogenic diagnosis.
- The study emphasizes the importance of integrating molecular testing in care for USH patients to enable earlier interventions and better coordination between eye and hearing specialists.
Purpose Of Review: To summarize the impact of financial hardship on children whose parents have been incarcerated, describe both existing cash transfer and guaranteed income programs, and highlight their impact on child and family well being.
Recent Findings: Emerging data on guaranteed income programs for formerly incarcerated adults indicates that the funds improve recipient health and legal system outcomes and allow participants to spend funds on stabilizing themselves and their families. Guaranteed income programs in the broader population similarly highlight the use of funds to support families' basic needs and improved parent-child relationships, but more data are needed to understand the impact on child health and well being among families impacted by the criminal legal system.
The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44-item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media.
View Article and Find Full Text PDFObjective: To identify variations among administration and scoring instructions of 6 upper extremity Fugl-Meyer Assessment (FMA-UE) protocols and to achieve consensus regarding optimal administration procedures.
Design: Nominal group consensus technique comprised of iterative independent reviews of protocol content, anonymous voting, and group consensus meetings.
Setting: Clinicians working in clinical practice and research settings participated in virtual meetings via Zoom.