Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature.

We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR , and a variant of uncertain significance in ZNF142 . Biallelic pathogenic variants in SPR lead to sepiapterin reductase deficiency (SRD), a dopa-responsive dystonia. Pathogenic variants in ZNF142 are associated with an autosomal recessive neurodevelopmental disorder characterized by impaired speech and hyperkinetic movements, which has significant clinical overlap with SRD. Our patient showed dramatic improvement in motor skills after treatment with levodopa. We also reviewed 67 published reports of uniparental disomy of chromosome 2 (UPD2) associated with various clinical outcomes. These include autosomal recessive disorders associated with loci on chromosome 2, infants with UPD2 whose gestations were associated with confined placental mosaicism for trisomy 2 leading to intrauterine growth restriction with good postnatal catchup growth, and normal phenotypes in children and adults with an incidental finding of either maternal or paternal UPD2. These latter reports provide support for the conclusion that genes located on chromosome 2 are not subject to imprinting. We also explore the mechanisms giving rise to UPD2.

Mental and behavioral health environments: critical considerations for facility design.

OBJECTIVES: The purpose of the study was to identify features in the physical environment that are believed to positively impact staff and patients in psychiatric environments and use these features as the foundation for future research regarding the design of mental and behavioral health facilities. METHODS: Pursuant to a broad literature review that produced an interview script, researchers conducted 19 interviews of psychiatric staff, facility administrators and architects. Interview data were analyzed using the highly structured qualitative data analysis process authored by Lincoln and Guba (1985). Seventeen topics were addressed ranging from the importance of a deinstitutionalized environment to social interaction and autonomy. RESULTS: The interviewees reinforced the controversy that exists around the implications of a deinstitutionalized environment, when the resulting setting diminishes patient and staff safety. Respondents tended to support open nurse stations vs. enclosed stations. Support for access to nature and the provision of an aesthetic environment was strong. Most interviewees asserted that private rooms were highly desirable because lower room density reduces the institutional character of a unit. However, a few interviewees adamantly opposed private rooms because they considered the increased supervision of one patient by another to be a deterrent to self-harm. The need to address smoking rooms in future research received the least support of all topics. CONCLUSION: Responses of interviews illustrate current opinion regarding best practice in the design of psychiatric facilities. The findings emphasize the need for more substantive research on appropriate physical environments in mental and behavioral health settings.