The motivations and methods behind sharing a pediatric Prader-Willi syndrome diagnosis.

Prader-Willi syndrome (PWS) is a genetic condition caused by a lack of paternally-expressed imprinted genes at chromosome 15q11.2-q13 and characterized by hyperphagia, behavioral challenges, and variable intellectual disability. Once a PWS diagnosis is established, sharing diagnosis information with an affected child can be challenging due to its early age of onset and diverse phenotype. This mixed-methods study aimed to evaluate how parents and guardians have shared a PWS diagnosis with their child and examine the motivating and influencing factors behind their disclosure. Parents and guardians of children with PWS aged at least 5 years completed a survey, and a select group completed an interview. A total of 51 surveys and 15 interviews were completed, with the majority of participants (n = 46; 90%) having shared at least some diagnosis information with their child. Parents and guardians were more likely to disclose if they self-reported a higher level of knowledge about PWS (p = 0.004) and if their child is currently older (p = 0.02) and/or has at least one sibling (p = 0.046). Interview analysis revealed 15 themes and 10 subthemes that illustrated parents' motivations, methods, and experiences with disclosure. This research provides information for others considering disclosure of PWS or another rare diagnosis with their child.

Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.

Aim: The study aim was to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for their child with Prader-Willi syndrome. Methods: Caregivers consented to PGx testing for their child and completed a survey before receiving results. Results: Of all caregivers (n = 48), 93.8% were highly interested in their child's upcoming PGx results. Most (97.9%) planned to share results with their child's medical providers. However, only 47.9% of caregivers were confident providers would utilize the PGx results. Conclusion: Caregivers are interested in utilizing PGx but are uncertain providers will use these results in their child's care. More information about provider comfort with PGx utilization is needed to understand how PGx education would benefit providers and ultimately patients with PGx results.

Investigating family history of diabetes as a predictor of fasting insulin and fasting glucose activity in a sample of healthy weight adults.

AIMS: Type 2 diabetes is a major public health problem for the global community. Having a family history of diabetes significantly increases risk for diabetes development and understanding how family history contributes to diabetes risk could lead to more effective prevention efforts for at-risk individuals. In a previous study, we showed family history of diabetes is a significant predictor of fasting insulin in healthy weight children. The present study aimed to use the National Health and Nutrition Examination Survey (NHANES 2017) to apply similar multiple regression models to a population of healthy weight adults to determine if family history is a significant predictor of fasting glucose and fasting insulin. METHODS: Fasting glucose (mg/dL) and fasting insulin (pmol/L) were used as dependent variables in each model, respectively, with family history of diabetes as the independent variable. Covariates for each model included age, gender, race/ethnicity, waist circumference, and macronutrient intake. RESULTS: The model significantly predicted the variance of fasting glucose [(F(11,364) = 34.80, p < 0.001, R2 = 0.2342] and fasting insulin [F(11,343) = 17.58, p < 0.001, R2 = 0.1162]. After adjusting for covariates, family history was a significant predicator of fasting glucose (p = 0.0193) as well as age, gender, non-Hispanic black ethnicity, waist circumference, and fat intake. Significant predictors of fasting insulin included gender and waist circumference, but not family history (p = 0.8264). In addition, fasting glucose was higher in individuals with a family history of diabetes (p = 0.033). CONCLUSIONS: These results add to the understanding of how family history influences the biomarkers that contribute to diabetes development. Knowledge of how family history of diabetes relates to fasting insulin and fasting glucose activity in healthy weight individuals can be used to design personalized screening and early prevention strategies.