Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating autosomal dominant inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.

Time and Note Characteristic Effects of an Electronic Health Record Template for Internal Medicine Resident Notes.

Background Inpatient internal medicine (IM) residents spend most of their time on indirect patient care activities such as clinical documentation. Objective We developed optimized electronic health record (EHR) templates for IM resident admission and progress notes, with the objective to reduce note-writing time, shorten note length, and decrease the percentage of progress note text that was copy-forwarded from prior notes. Methods In 2022, a multidisciplinary team created, over an 8-month period, optimized EHR templates for IM resident admission and progress notes. A retrospective analysis was performed to assess differences in resident time spent writing notes, note length in characters, and percentage of progress note text that was copy-forwarded. All 94 residents in the IM residency program had the opportunity to use the novel templates. Results Following implementation of the novel templates, residents spent on average 3.6 minutes less per progress note compared to pre-intervention (P=.008; 95% CI of the difference: 1.1-6.0 minutes). Notes in the post-intervention period were shorter for admission notes (mean reduction of 1041 characters; P<.001; 95% CI of the difference: 448-1634 characters) and progress notes (mean reduction of 764 characters; P<.001; 95% CI of the difference: 103-1426 characters). Progress notes also saw an average 22% decrease of copy-forwarded text (P<.001, 95% CI of the difference: 18.7%-25.4%). Conclusions The optimized note templates led to a reduction in resident progress note-writing time, shortened note length, and a lower percentage of copy-forwarded text.