This is the largest survey of clinical features in children with pathogenic mutations to date. It confirms earlier reports of increased rates of neurodevelopmental disorders. Dermatological, GI and thyroid abnormalities are age dependent and may not be present at the time of diagnosis, requiring regular monitoring and medical surveillance. Early paediatric diagnosis is important for institution of medical and developmental surveillance as well as for testing other at- risk family members.

Background: Understanding how medical scribes impact care delivery can inform decision-makers who must balance the cost of hiring scribes with their contribution to alleviating clinician burden.Objective: The objective of this study was to understand how scribes impacted provider efficiency and satisfaction.Design: This was mixed-methods study.Participants: Internal and family medicine clinicians were included.Measures: We administered structured surveys and conducted unstructured interviews with clinicians who adopted scribes. We collected average days to close charts and quantity of after-hours clinical work in the 6 months before and after implementation using electronic health record data. We conducted a difference in difference (DID) analysis using a multilevel Poisson regression.Results: Three themes emerged from the interviews: (1) charting time is less after training; (2) clinicians wanted to continue working with scribes; and (3) scribes did not reduce the overall inbox burden. In the 6-month survey, 76% of clinicians endorsed that working with a scribe improved work satisfaction versus 50% at 1 month. After implementation, days to chart closure decreased [DID = 0.38 fewer days; 95% confidence interval (CI): −0.61, −0.15] the average minutes worked after hours on clinic days decreased (DID = −11.5 min/ d; 95% CI: −13.1, −9.9) as did minutes worked on nonclinical days (DID = −24.9 min/d; 95% CI: −28.1, −21.7).Conclusions: Working with scribes was associated with reduced time to close charts and reduced time using the electronic health record, markers of efficiency. Increased satisfaction accrued once scribes had experience.