A DM1 patient with CCG variant repeats: Reaching the diagnosis.

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical and electrical myotonia, and a prior history of cataract extraction. He had a dominant family history in keeping with a similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction in a diagnostic laboratory did not identify a typical CTG repeat expansion on two separate blood samples. However, subsequent genetic testing on a research basis identified a heterozygous repeat expansion containing CCG variant repeats. Our case highlights the point that variant repeats are not detectable on triplet-primed polymerase chain reaction and result in a milder phenotype of myotonic dystrophy. It is crucial to maintain a high clinical index of suspicion of this common neuromuscular condition.

Becoming a Mentor: The Impact of Training and the Experience of Mentoring University Students on the Autism Spectrum.

While it is widely recognised that the number of young adults diagnosed with Autism Spectrum Disoders (ASD) is increasing, there is currently limited understanding of effective support for the transition to adulthood. One approach gaining increasing attention in the university sector is specialised peer mentoring. The aim of this inductive study was to understand the impact of peer mentor training on seven student mentors working with university students with an ASD. Kirkpatrick's model framed a mixed methods evaluation of the mentors' training and description of their experience. Overall, the training was well received by the mentors, who reported on average a 29% increase in their ASD knowledge following the training. Results from the semi-structured interviews conducted three months after the training, found that mentors felt that the general ASD knowledge they gained as part of their training had been essential to their role. The mentors described how their overall experience had been positive and reported that the training and support provided to them was pivotal to their ability to succeed in as peer mentors to students with ASD. This study provides feedback in support of specialist peer-mentoring programs for university students and can inform recommendations for future programs and research.

Utility of telephone survey methods in population-based health studies of older adults: an example from the Alberta Older Adult Health Behavior (ALERT) study.

BACKGROUND: Random digit dialing is often used in public health research initiatives to accrue and establish a study sample; however few studies have fully described the utility of this approach. The primary objective of this paper was to describe the implementation and utility of using random digit dialing and Computer Assisted Telephone Interviewing (CATI) for sampling, recruitment and data collection in a large population-based study of older adults [Alberta Older Adult Health Behavior (ALERT) study]. METHODS: Using random digit dialing, older adults (> = 55 years) completed health behavior and outcome and demographic measures via CATI. After completing the CATI, participants were invited to receive a step pedometer and waist circumference tape measure via mail to gather objectively derived ambulatory activity and waist circumference assessments. RESULTS: Overall, 36,000 telephone numbers were called of which 7,013 were deemed eligible for the study. Of those, 4,913 (70.1%) refused to participate in the study and 804 (11.4%) participants were not included due to a variety of call dispositions (e.g., difficult to reach, full quota for region). A total of 1,296 participants completed telephone interviews (18.5% of those eligible and 3.6% of all individuals approached). Overall, 22.8% of households did not have an age 55+ resident and 13.6% of individuals refused to participate, Average age was 66.5 years, and 43% were male. A total of 1,081 participants (83.4%) also submitted self-measured ambulatory activity (i.e., via step pedometer) and anthropometric data (i.e., waist circumference). With the exception of income (18.7%), the rate of missing data for demographics, health behaviors, and health measures was minimal (<1%). CONCLUSIONS: Older adults are willing to participate in telephone-based health surveys when randomly contacted. Researchers can use this information to evaluate the feasibility and the logistics of planned studies using a similar population and study design.

What is helpful to adolescents who have a parent diagnosed with cancer?

This research sought to identify what has been helpful for young people who have a parent diagnosed with cancer. Semistructured telephone interviews were conducted with young people (N = 15, age: M = 15.9 years) who had a parent diagnosed with cancer within the last 5 years. A phenomenological thematic data analysis distinguished three superordinate themes, identifying what helped adolescents cope with their parent's cancer diagnosis. These were parental behavior, specific coping strategies used by the young person, and community support. These results contribute to our knowledge of what can help young people whose parent has been diagnosed with cancer.