Ten Lessons Learned from a Hemangioma Clinic
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ABSTRACT:
SUBMITTER: Metry D
PROVIDER: S-EPMC2884766 | biostudies-literature | 2006 Aug
REPOSITORIES: biostudies-literature
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Project description:Universal screening for adverse childhood experiences (ACEs) is recommended by the American Academy of Pediatrics due to downstream health risks. However, widespread screening practices have not been adopted.MethodsWe used quality improvement methods to establish ACEs screening in a busy pediatric clinic that serves primarily Medicaid-insured and Spanish-speaking patients. The final Plan-Do-Study-Act cycle included the screening of both the patient and his/her caregiver(s). ACEs scores were a process measure; balancing measures were the average time to screen, the number of referrals generated, and qualitative caregiver reception.ResultsWe screened 232 families, and the process maintained a ≥ 80% completion rate of ACEs screening for 1-month-old children and their caregivers during the final 10 weeks. 23% of caregivers had an ACEs score ≥ 4; overall, 6% were referred for further resources. The average time to discuss the screen was 86.78 seconds. The general caregiver reception was gratitude; 2% refused screening.ConclusionThis study demonstrates the feasibility of initiating ACEs screening of 1 age group and their caregivers using quality improvement methods.
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Project description:IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing.MethodsEach of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease.ResultsFollowing different lines of investigation, molecular diagnoses were obtained for each case, with patients harboring pathogenic variants in a range of genes including TMEM106B, GJA1, AGA, POLR3A, and TUBB4A. We describe the lessons learned in reaching the genetic diagnosis, including the importance of (a) utilizing proper multi-gene panels in clinical testing, (b) assessing the reliability of biochemical assays in supporting diagnoses, and (c) understanding the limitations of exome sequencing methods in regard to CNV detection and region coverage in GC-rich areas.DiscussionThis study illustrates the importance of applying a collaborative diagnostic approach by combining detailed phenotyping data and metabolic results from the clinical environment with advanced next generation sequencing analysis techniques from the research environment to increase the diagnostic yield in patients with genetically unresolved leukodystrophies.
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