22q11.2 deletion syndrome (22q11DS) is the most common microdeletion in humans. There have been few studies assessing the impact of this condition on the family and no previous studies conducted on unaffected siblings of children with 22q11DS. The goal of this study was to determine the frequency, method, and content of information being communicated by parents to unaffected siblings about the condition and to assess unaffected siblings' knowledge of 22q11DS and perceptions of the impact of the condition on their affected sibling and themselves. Families were recruited from several 22q11DS educational and support organizations and asked to complete a single anonymous online survey. Families were eligible to participate if they had one child with 22q11DS and at least one unaffected child between the ages of 12 and 17. Survey questions were developed based on previous literature and authors' expertise with individuals with 22q11DS. Responses to quantitative and qualitative questions were analyzed to calculate frequencies and proportions and to extract themes, respectively. A total of 25 families (defined as a unit of at least one parent, one affected child, and at least one unaffected child) participated in the study. Parents shared genetic information less often as compared to behavioral and medical information. Siblings of children with 22q11DS had both positive and negative experiences in having a brother or sister with this condition. Genetic counselors can use the results of this study to develop anticipatory guidance for parents of children with 22q11DS in talking with their unaffected children about the condition.
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http://dx.doi.org/10.1007/s10897-014-9806-4 | DOI Listing |
J Epidemiol
December 2024
Department of Sustainable Health Science, Center for preventive Medical Sciences, Chiba University.
Background: Coronavirus disease 2019 (COVID-19) in children is often asymptomatic, posing challenges in detecting infections. Additionally, factors contributing to infection remain poorly understood. This study aimed to investigate trends in anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) nucleocapsid antibody seroprevalence, the relationship between seroprevalence and parental perception of child infection, and factors related to COVID-19 in children.
View Article and Find Full Text PDFStem Cell Res Ther
December 2024
Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, No.107, West Yan Jiang Road, Guangzhou, 510120, Guangdong, China.
Background: Allo-HSCT is a curative therapy for patients with transfusion-dependent thalassemia (TDT). The high incidence of transplant-related complications is becoming an obstacle to safe and effective unrelated donor (URD) transplantation.
Methods: In this retrospective study, we reported the survival outcomes and complications of transplantation in thalassemia patients using a novel regimen consisting of pre-transplantation immunosuppression (PTIS) and modified myeloablative conditioning based on intravenous busulfan, cyclophosphamide, fludarabine, and rabbit anti-human thymocyte immunoglobulin.
Eur J Oncol Nurs
December 2024
Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address:
Purpose: Siblings of children with cancer experience the consequences of their brother or sister's disease and treatment firsthand, often causing social and school-related difficulties. This study aimed to gather parents' and siblings' feedback on a proposal for a school-based social and educational support intervention for siblings with the goal of tailoring the program to meet the needs of siblings.
Method: Adopting a criterion sampling strategy, we conducted interviews with 20 parents and 11 siblings, aged 7-19 years, of children with cancer.
Genet Med
December 2024
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
BMC Palliat Care
December 2024
School of Humanities and Social Science, Harbin Medical University, No.157 Baojian Road, Nangang District, Harbin, Heilongjiang Province, 150081, China.
Background: Advance care planning is an important part of palliative care. Public acceptance is a prerequisite for the widespread development and implementation of advance care planning. However, little is known about the level of public's acceptance and influencing factors of advance care planning across different life cycles.
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