6 research outputs found
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THE EFFECTS OF COVID-19 ON CHILD ABUSE INVESTIGATION OUTCOMES
The COVID-19 pandemic essentially changed every system in America. In particular, it has created many unfamiliar challenges for child welfare agencies because they had to make immense changes to how they conducted their established practice. These changes aimed to keep the safety of children at the forefront, and simultaneously integrate higher safety protocols for social workers without putting children at risk. In response, the focus of this research proposal was to understand the effect COVID-19 had on child abuse investigations.
This research project utilized qualitative data in the form of interviews from a convenience sample of child welfare emergency response social workers to explore the impact COVID-19 had on child abuse investigations. Through the use of conventional content analysis, the following themes were identified: Outcomes, Practice Changes, and Types of Allegations. A limitation of the study was the small sample size and its focus on one county, therefore, not being able to generalize to the larger population and other dissimilar jurisdictions. One major finding indicating how COVID-19 changed child welfare practice was the inability to make face to face contact with children, due to social distancing requirements. The results highlight the importance of mental health services being accessible during a crisis, and child welfare agencies being able to adapt to everchanging practice and policy
What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
Background: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright''s hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing. Methods: We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case. Results: A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH. Conclusions: This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes