The Experience of Parental Caregiving for Children With Medical Complexity.

Children with medical complexity (CMC) have complex chronic conditions with significant functional impairment, contributing to high caregiving demand. This study seeks to explore impacts of parental caregiving for CMC. Fifteen caregivers of CMC followed at a tertiary care hospital participated in semi-structured interviews.

Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.

The intent of carrier screening is to identify individuals at risk for having a child with a genetic disorder. American College of Medical Genetics and Genomics (ACMG) guidelines currently recommend that individuals of Ashkenazi Jewish (AJ) descent be screened for carrier status for nine disorders. However, a joint statement from five professional organizations acknowledges benefits of expanded carrier screening and this is becoming common practice.

Patient Experience in Health Professions Curriculum Development.

Unlabelled: To enhance student learning, many health profession programs are embracing involvement of patients in their curricula, yet little is known about the impact of such an experience on patients.

Objective: To understand the experiences of patients who contributed to the creation of a Verbatim Reader's Theater used in health professions curriculum.

Methods: A semi-structured interview was conducted with a focus group of 3 patients who participated in curriculum development.

Understanding Partnerships With Patients/Clients in a Team Context Through Verbatim Theater.

Introduction: Patient partnership has come to the forefront in health care practice and education, influencing professional programs and interprofessional education curricula. While students conceptually understand the idea of partnering with the patient, the practice of doing so is more challenging. Innovative ways to teach this health care approach may be effective in enabling students to apply their learning and promote enhanced patient partnerships.

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Objective: To document fragile X allele frequencies in a national referral population and evaluate CGG repeat expansion in mother-offspring transmissions.

Methods: Fragile X DNA analysis by Southern blot and polymerase chain reaction was completed for 14,675 women, aged 18 years or older, and 238 mother-offspring pairs between January 1999 and June 2004. Carrier frequencies were compared between groups referred for different clinical indications.