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1.
Mol Psychiatry ; 26(5): 1706-1718, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33597717

RESUMO

Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts. Exome sequencing revealed a stop-gain mutation in RCL1 (NM_005772.4:c.370 C > T, p.Gln124Ter), encoding an RNA 3'-terminal phosphate cyclase-like protein that is highly conserved across eukaryotic species. Subsequent investigations across two academic medical centers identified eleven additional cases of RCL1 copy number variations (CNVs) with varying neurodevelopmental or psychiatric phenotypes. These findings suggest that dosage variation of RCL1 contributes to a range of neurological and clinical phenotypes.


Assuntos
Variações do Número de Cópias de DNA , Adolescente , Variações do Número de Cópias de DNA/genética , Humanos , Masculino , Mutação/genética , Fenótipo , Sequenciamento do Exoma
2.
Artigo em Inglês | MEDLINE | ID: mdl-38583523

RESUMO

BACKGROUND: There have been notable increases in pediatric mental health boarding in the United States in recent years, with youth remaining in emergency departments or admitted to inpatient medical/surgical units, awaiting placement in psychiatric treatment programs. OBJECTIVES: We aimed to evaluate the outcomes of interventions to reduce boarding and improve access to acute psychiatric services at a large tertiary pediatric hospital during a national pediatric mental health crisis. METHODS: Boarding interventions included expanding inpatient psychiatric beds and hiring additional staff for enhanced crisis stabilization services and treatment initiation in the emergency department and on inpatient medical/surgical units for boarding patients awaiting placement. Post-hoc assessment was conducted via retrospective review of patients presenting with mental health emergencies during the beginning of intervention implementation in October-December 2021 and one year later (October-December 2022). Inclusion criteria were patients ≤17 years who presented with mental health-related emergencies during the study period. Exclusion criteria were patients ≥18 years and/or patients with >100 days of admission awaiting long-term placement. Primary outcome was mean length of boarding (LOB). Secondary outcome was mean length of stay (LOS) at the hospital's acute psychiatry units. RESULTS: One year after full intervention implementation (October-December 2022), mean LOB decreased by 53% (4.3 vs 9.1 days, P < 0.0001) for boarding patients discharged to high (e.g., inpatient, acute residential) and intermediate (e.g., partial hospital, in-home crisis stabilization programs) levels of care, compared to October-December 2021. Additionally, mean LOS at all the 24-hour acute psychiatry treatment programs was reduced by 27% (20.0 vs 14.6 days, P = 0.0002), and more patients were able to access such programs (265/54.2% vs 221/41.9%, P < 0.0001). Across both years, youth with aggressive behaviors had 193% longer LOB (2.93 ± 1.15, 95% CI [2.23, 3.87]) than those without aggression, and youth with previous psychiatric admissions had 88% longer LOB than those without (1.88 ± 1.11, 95% CI [1.54, 2.30]). CONCLUSIONS: The current study shows decreased LOB and improved access for youth requiring acute psychiatric treatment after comprehensive interventions and highlights challenges with placement for youth with aggressive behaviors. We recommend a call-to-action for pediatric hospitals to commit sufficient investment in acute psychiatric resources to address pediatric mental health boarding.

3.
Psychol Serv ; 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38483486

RESUMO

This article examines the feasibility of implementing patient-reported outcome (PRO) measures with adolescents on an inpatient psychiatry service. During the study period (March 8, 2021, to June 7, 2022), a total of 154 patient encounters were recorded for adolescents between 12 and 17 years of age. PROs were piloted during the first 3 months of the study period, with a focus on technical implementation. In the 12 months from June 8, 2021, through June 7, 2022, the PRO project moved to full implementation across all patient encounters. Fisher's exact test and independent t tests were conducted to examine the differences between patients who completed the PROs and patients who did not complete them to determine the representativeness of the sample receiving them. During the 3-month pilot period, 31.8% of patients completed the PROs at admission and discharge, while during the 12-month full implementation, 74.5% of patients completed them at both time points. Statistical tests showed no significant diagnostic, sex, or race/ethnicity differences between patients who received and did not receive the outcome measures. Even without funding, small inpatient psychiatry services for adolescents can feasibly implement PROs with completion rates similar to other published studies and capture the majority of the patients served. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

4.
J Am Acad Child Adolesc Psychiatry ; 62(6): 611-613, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36813024

RESUMO

This Letter to the Editor examines the operational changes on two child and adolescent acute psychiatric treatment programs during the COVID-19 pandemic. On an inpatient unit with roughly two-thirds of its beds in double-occupancy rooms, we found that average daily census and total admissions were lower in the early pandemic period compared to the pre-pandemic period, whereas length of stay was significantly longer. In contrast, a community-based acute treatment program with only single-occupancy rooms showed an increase in average daily census, and no significant change in admissions or length of stay during the early pandemic period compared to the pre-pandemic period. Recommendations include considering preparedness for infection-related public health emergencies in unit design.


Assuntos
COVID-19 , Humanos , Criança , Adolescente , Pandemias , Serviço Hospitalar de Emergência , Hospitalização , Psicoterapia
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