RESUMEN
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormone in the brain, and coexisting endocrinological symptoms, due to chronic thyrotoxicosis, resulting from elevated thyroid hormone outside the central nervous system (CNS). In February 2024, we reviewed the published literature to identify relevant articles reporting on the current unmet needs of patients with MCT8 deficiency. There are several main challenges in the diagnosis and treatment of MCT8 deficiency, with decreased awareness and recognition of MCT8 deficiency among healthcare professionals (HCPs) associated with misdiagnosis and delays in diagnosis. Diagnostic delay may also be attributed to other factors, including the complex symptomology of MCT8 deficiency only becoming apparent several months after birth and pathognomonic serum triiodothyronine (T3) testing not being routinely performed. For patients with MCT8 deficiency, multidisciplinary team care is vital to optimize the support provided to patients and their caregivers. Although there are currently no approved treatments specifically for MCT8 deficiency, earlier identification and diagnosis of this disorder enables earlier access to supportive care and developing treatments focused on improving outcomes and quality of life for both patients and caregivers.
RESUMEN
Physician burnout impacts care (of self and patient), productivity, longevity of career, and overall cost to the system. While burnout rates for pediatricians are lower than average, they have not improved significantly over time. While strategies at the system level have been more successful than those at the individual level, both aspects are vital. This quality improvement study explores physician wellness and burnout trends of a sample population of pediatricians at the 2018 and 2019 AAP National Conference and Exhibition (NCE), using the Physician Health and Wellness Booth (PHWB). A rapid cycle approach with the Plan-Do-Check-Act (PDCA) framework was utilized. The aim was to observe if reported burnout decreased by 20% over six months. Of the pediatricians who interacted with the PHWB, 56 were randomly selected to participate. This included men and women and those in various practice settings, ranging from resident physicians to providers in practice for over 20 years. Baseline surveys included elements from a modified Maslach Burnout Inventory and the Stanford Physician Wellness Survey, focusing on burnout components (emotional exhaustion, depersonalization, and fulfillment) and wellness activities. Individual-based interventions were provided at the PHWB, including adult preventative health guidelines, resources on sleep, stress mitigation, and complementary medicine. Participants received a movie ticket and Starbucks gift card. Follow-up included six monthly newsletters with strategies from seven wellness domains. Post-intervention surveys at six months assessed all baseline questions plus the effectiveness of monthly newsletters. A second PDCA cycle was conducted from the 2019 NCE. All individual-based interventions continued with an added aromatherapy oil station. Additional system-based resources included sample institutional wellness initiatives and burnout cost analyses, all focusing on advocating for cultural change at their respective home organizations. Interactive monthly wellness calendars addressing seven wellness domains were emailed for six months follow-up. Results from 10 post-intervention surveys (10/56=18% of respondents) from the initial cohort reported an average of 25% decrease in burnout (p=0.09). This was measured on a scale of 1-10 (from "never" burned out to "very often") and improved from 6.68 ("sometimes" to "often" burned out) to 5.0 ("rarely" to "sometimes" burned out). Results from Cohort 2 reflected a decrease in burnout from 4.94 ("rarely" to "sometimes" burned out) to 2.85 ("never" to "rarely" burned out) in return from 20 post-intervention surveys (20/48=42% of respondents, p=0.003). Participants noted a lack of control over work schedules and a disconnect with organizational values as drivers of burnout. Both the PHWB and monthly newsletters were rated as valuable as reminders about wellness practices. Limitations included low response rate, which was notable, and inability to prove causation of improvement from our intervention. Future steps include utilizing subject identification numbers to allow for anonymity in a prospective cohort study with a third PDCA cycle. This would allow anonymous but matched same-subject comparison of pre- and post-survey results despite the small sample size. Follow-up incentives could be beneficial. Lastly, data from both cohorts revealed the highest level of burnout in early career physicians within 10 years of training, paving an opportunity for future study.
RESUMEN
OBJECTIVE: Transition from pediatric to adult healthcare systems is a difficult process for young adults with Type 1 Diabetes (T1D) and most patients experience a deterioration in disease control. Mental health (MH) disorders are common in individuals with T1D and are believed to play a role in disease control and transition of care. We evaluated the association between the presence of pediatric MH disorder and measures of success in diabetes care in young adults who recently transitioned to adult care. RESEARCH DESIGN AND METHODS: Retrospective cohort study of young adults in a large adult endocrinology system who transitioned from a pediatric hospital system after 2009. MH disorders were diagnosed by clinical pediatric psychologists during routine care at the pediatric hospital. Measurements of Hemoglobin A1c, diabetes-related emergencies, clinic attendance and intervals in transition were assessed and compared between the pediatric and adult hospital systems. RESULTS: 237 young adults were identified and 100 (42%) of these were diagnosed with a MH disorder during pediatric care. Presence of a MH disorder was associated with higher Hemoglobin A1c levels prior to transition and increased rates of diabetes-related hospitalizations during the transition interval. Patients with a MH disorder were less likely to establish a pattern of consistent follow up after transition (p = 0.021). CONCLUSIONS: MH disorders are common and predict greater challenges with diabetes management and less effective transition into the adult endocrinology system. Early recognition of MH disorders may allow for allocation of more proactive and intensive support for affected patients.
