Publications by authors named "Emily VandenBoom"

2 Publications

  • Page 1 of 1

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Eur J Med Genet 2020 Nov 19;63(11):104042. Epub 2020 Aug 19.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; Clemson University School of Health Research, Clemson, SC, USA.

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by rearrangements on chromosome 22q13.3 or sequence variants in SHANK3. Individuals with PMS caused by a 22q terminal deletion and a ring chromosome are at increased risk for Neurofibromatosis type 2 (NF2). However, the prevalence of NF2 in individuals with PMS and a r (22) is unknown. Individuals with PMS and a r (22) chromosome evaluated at the Greenwood Genetic Center (GGC) or by international collaborators, or identified through the PMS International Registry (PMSIR) were contacted and participated in a clinical questionnaire. Forty-four families completed the questionnaire and consented for the study. Of the individuals with a r (22), 7 (16%) carried a diagnosis of NF2. The average age of diagnosis of r (22) was 18 years old in individuals with NF2 and three years old in individuals without NF2 (p-value <0.001). Clinical findings were similar among all individuals in our sample with the exception of hearing loss, present in 57% of individuals with NF2 and 8% of individuals without NF2 (p-value <0.01). This is the largest clinical report of individuals with PMS and a r (22) chromosome. We show a diagnosis of NF2 in individuals with r (22) is not uncommon and may be under ascertained. Moreover, the presentation of NF2 in this cohort is variable and lifelong routine screening for features of NF2 in this population should be considered.
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http://dx.doi.org/10.1016/j.ejmg.2020.104042DOI Listing
November 2020

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients.

J Genet Couns 2018 06 12;27(3):681-688. Epub 2017 Oct 12.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 540 E. Canfield St., 2375 Scott Hall, Detroit, MI, 48201, USA.

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today's clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.
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http://dx.doi.org/10.1007/s10897-017-0163-yDOI Listing
June 2018