Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.

BACKGROUND: 22q11.21 deletion syndrome (22q11DS) is a neurodevelopmental syndrome caused by a microdeletion of genes at the 22q11.21 locus. It has a prevalence of 1:2000. This study investigated the prevalence of adaptive living skills, sleep problems, and mental health disorders in adults with 22q11DS and examined the relationship between these factors. METHODS: Parents with an adult son or daughter with 22q11DS completed the following: A bespoke Demographic Information Questionnaire, Sleep Questionnaire (SQ-SP), Psychopathology in Autism Checklist (PAC), and Activities of Daily Living (ADL) scale. Descriptive statistics, correlations, and one-way between groups analysis of variance (ANOVA) were conducted. RESULTS: Mental health difficulties, sleep problems, and low levels of adaptive living skills are prevalent in adults with 22q11DS. Strong positive correlations were identified between sleep problems, depression, and anxiety subscale scores and moderate negative correlations between depression, psychosis, and activities of daily living skills. CONCLUSION: Adults with 22q11DS need screening and treatment for mental health and sleep problems.

An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.

22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850-992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms, and psychiatric illnesses. The study examined the relationship between adaptive behavior and functional outcomes, educational attainment, employment, and independent living, and whether age, gender, intellectual disability, presence of psychiatric disorder, and close friendships could predict levels of adaptive behavior. Parents of adults with 22q11DS (n = 101; 48 male and 54 female) completed the Waisman Activities of Daily Living Scale, demographic details, and questions elicited employment, education, and relationships status. Analysis conducted in SPSS, included descriptive statistics, measures of association, Analysis of Variance, logistic and linear regressions. Differences in levels of overall adaptive behavior were found regarding employment and living status, but not in educational attainment. Having close friendships was associated with adaptive behavior as well as the likelihood of living independently. Further research is needed, ideally using prospective designs and purposive sampling strategies. This needs to examine how social and communication deficits impact relationship building and how they are affected by the clinical manifestations of 22q11DS. It also needs to focus on how different social structures interface with levels of adaptive behavior.

Factors Associated With Voluntary Refusal of Emergency Medical System Transport for Emergency Care in Detroit During the Early Phase of the COVID-19 Pandemic.

Importance: Emergency department (ED) and emergency medical services (EMS) volumes decreased during the COVID-19 pandemic, but the amount attributable to voluntary refusal vs effects of the pandemic and public health restrictions is unknown. Objective: To examine the factors associated with EMS refusal in relation to COVID-19 cases, public health interventions, EMS responses, and prehospital deaths. Design, Setting, and Participants: A retrospective cohort study was conducted in Detroit, Michigan, from March 1 to June 30, 2020. Emergency medical services responses geocoded to Census tracts were analyzed by individuals' age, sex, date, and community resilience using the Centers for Disease Control and Prevention Social Vulnerability Index. Response counts were adjusted with Poisson regression, and odds of refusals and deaths were adjusted by logistic regression. Exposures: A COVID-19 outbreak characterized by a peak in local COVID-19 incidence and the strictest stay-at-home orders to date, followed by a nadir in incidence and broadly lifted restrictions. Main Outcomes and Measures: Multivariable-adjusted difference in 2020 vs 2019 responses by incidence rate and refusals or deaths by odds. The Social Vulnerability Index was used to capture community social determinants of health as a risk factor for death or refusal. The index contains 4 domain subscores; possible overall score is 0 to 15, with higher scores indicating greater vulnerability. Results: A total of 80 487 EMS responses with intended ED transport, 2059 prehospital deaths, and 16 064 refusals (62 636 completed EMS to ED transports) from 334 Census tracts were noted during the study period. Of the cohort analyzed, 38 621 were women (48%); mean (SD) age was 49.0 (21.4) years, and mean (SD) Social Vulnerability Index score was 9.6 (1.6). Tracts with the highest per-population EMS transport refusal rates were characterized by higher unemployment, minority race/ethnicity, single-parent households, poverty, disability, lack of vehicle access, and overall Social Vulnerability Index score (9.6 vs 9.0, P = .002). At peak COVID-19 incidence and maximal stay-at-home orders, there were higher total responses (adjusted incident rate ratio [aIRR], 1.07; 1.03-1.12), odds of deaths (adjusted odds ratio [aOR], 1.60; 95% CI, 1.20-2.12), and refusals (aOR, 2.33; 95% CI, 2.09-2.60) but fewer completed ED transports (aIRR, 0.82; 95% CI, 0.78-0.86). With public health restrictions lifted and the nadir of COVID-19 cases, responses (aIRR, 1.01; 0.97-1.05) and deaths (aOR, 1.07; 95% CI, 0.81-1.41) returned to 2019 baselines, but differences in refusals (aOR, 1.27; 95% CI, 1.14-1.41) and completed transports (aIRR, 0.95; 95% CI, 0.90-0.99) remained. Multivariable-adjusted 2020 refusal was associated with female sex (aOR, 2.71; 95% CI, 2.43-3.03 in 2020 at the peak; aOR 1.47; 95% CI, 1.32-1.64 at the nadir). Conclusions and Relevance: In this cohort study, EMS transport refusals increased with the COVID-19 outbreak's peak and remained elevated despite receding public health restrictions, COVID-19 incidence, total EMS responses, and prehospital deaths. Voluntary refusal was associated with decreased EMS transports to EDs, disproportionately so among women and vulnerable communities.