MS, University of Cincinnati, 2024, Medicine: Genetic Counseling

Congenital heart disease (CHD) is the most common birth defect, with approximately 25% having a primary genetic etiology. Expert consensus guidelines recommended genetic testing for apparently isolated CHD (iCHD) in infants. Prenatal CHD detection (8% diagnosed prior to birth) allows for earlier genetic counseling. Timing of genetic counseling can affect parental decision-making and genetic testing uptake (prenatal vs postnatal). The primary aim of this study was to examine postnatal genetic testing uptake among families of infants with apparently isolated CHD who received prenatal versus postnatal cardiac genetic counseling. We hypothesized that families of infants who received prenatal genetic counseling would have a higher uptake of postnatal genetic testing than those who received postnatal genetic counseling. A retrospective chart review was completed for infants admitted to the Cincinnati Children's Hospital Medical Center (CCHMC) Cardiac Intensive Care Unit (CICU) between January 1, 2019 and April 30, 2023 for an apparently isolated CHD. Eligible patients were seen by cardiovascular genetic counselors (CVGC) either prenatally or postnatally for discussion of postnatal genetic testing. A total of 228 infants were eligible for inclusion in the retrospective chart review. Of these, 76 families received prenatal genetic counseling from a CVGC and 152 were counseled postnatally. Patients receiving prenatal genetic counseling were four times more likely to consent for postnatal genetic testing (OR=4.4, p=0.03) than those seen in the postnatal period. Yield of diagnostic genetic testing was 14%, of which 60% were copy number variants and 40% were single nucleotide variants. Families of infants with CHD who met with a CVGC prenatally were significantly more likely to consent for postnatal genetic testing. Although expert consensus statements often recommend chromosomal microarray as a first line of genetic testing for iCHD, the yield reported i (open full item for complete abstract)

Committee: Erin Miller M.S. L. (Committee Chair); Amy Shikany MS (Committee Member); Cara Barnett M.S. (Committee Member); Nicole Weaver M.D. (Committee Member); Hua He M.S. (Committee Member); Nadine Kasparian Ph.D. (Committee Member); James Cnota M.D. (Committee Member) Subjects: Genetics

MS, University of Cincinnati, 2023, Medicine: Genetic Counseling

Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC) where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period. We found that there were not significant differences in patient demographics scheduled in the GCC as compared with the General Genetics Clinic with the exception of insurance type, where patients scheduled in the GCC were more likely to have private insurance. Patients scheduled in the GCC had a significantly shorter wait time, were more likely to complete their appointment, were more often new to the genetics division, and were more likely to be seen via telehealth (audio and video or audio only) as compared with patients scheduled in the General Genetics Clinic. The most common indications for patients scheduled in the GCC were post-test counseling (36.0%) followed by pre-test counseling and coordination of testing (22.3%) and first-line testing for autism, intellectual disability, and developmental delay (13.7%). Completed appointments in the GCC often resulted in the GC ordering genetic testing (67.5%). After genetic testing results were received, most patients (72.7%) did not require subsequent follow-up with the genetics division, thereby reducing burden to the medical genetics team. Our GCC increased access to genetic services and allowed GCs and clinical geneticist to better work at the top of their scope of practice.

Committee: Melanie Myers Ph.D. (Committee Chair); Katherine Healy M.S (Committee Member); Christine Spaeth M.S. C.G.C. (Committee Member); Kathleen Pulda B.A. (Committee Member); Valentina Pilipenko Ph.D. (Committee Member) Subjects: Genetics

PHD, Kent State University, 2018, College of Education, Health and Human Services / School of Health Sciences

Emergent literacy skills are thought to develop through transactional relationships between child characteristics and environmental variables. Child characteristics suggested to contribute to literacy learning include speech and language development, cognitive processing profile, social-communication skills, joint engagement, and the absence of maladaptive behaviors. Environmental variables supporting emergent literacy include opportunities for interactions with others in high-quality literacy and language environments. The emergent literacy skills of children with autism spectrum disorder (ASD) are characterized by strong visual and phonological memory, variable decoding proficiency aligned with variable cognitive skills, and poor language and reading comprehension. This study presents data from five children (ages 4-6) with ASD in response to an adapted group shared reading intervention, that addressed emergent literacy. This study had three aims: First, to characterize the group adapted shared reading intervention and to determine the strength and significance of relationships between intervention methods and child performance variables (i.e., emergent literacy quiz, and per-session measurements of joint engagement and maladaptive behavior). Second, to explore trends in child performance variables in response to intervention, and to evaluate the effects of intervention methods on child performance variables. Third, to determine if child participants demonstrated significant differences on emergent literacy measures from pretest to posttest. Intervention methods and relationships between variables were characterized and evaluated using descriptive and correlational analyses. Individual and group trends were explored using visual-graphic analyses. Effects of intervention on child performance variables were determined using three Poisson generalized linear mixed effects models. Dependent t-tests were used to determine if there were significant differences betwe (open full item for complete abstract)

Committee: Sloane Burgess PhD (Committee Chair) Subjects: Behavioral Sciences; Communication; Developmental Psychology; Early Childhood Education; Educational Psychology; Elementary Education; Language; Literacy; Reading Instruction; Special Education; Speech Therapy