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Articles 1 - 5 of 5
Full-Text Articles in Medicine and Health Sciences
The Informational And Emotional Support Needs Of Grandparents Of Children With Pompe Disease, Natasha Lousie Rudy
The Informational And Emotional Support Needs Of Grandparents Of Children With Pompe Disease, Natasha Lousie Rudy
Theses and Dissertations
The complex roles and experiences of grandparents of children with various diagnoses have been described, but previous studies have not investigated the roles and experiences of grandparents of children with treatable, Mendelian conditions such as Pompe disease. The availability of treatment and heritable nature of Pompe introduce the possibility for unique grandparent roles, experiences and needs. This is a particularly timely investigation given the advent of newborn screening for Pompe. This study aimed to characterize grandparents’ roles and involvement, identify grandparents’ information and emotional support needs, and explore the psychosocial impact felt by grandparents of children with Pompe. An online …
Advancing Our Understanding Of The Inheritance And Transmission Of Pectus Excavatum, Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, Robert E. Kelly
Advancing Our Understanding Of The Inheritance And Transmission Of Pectus Excavatum, Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, Robert E. Kelly
Bioelectrics Publications
Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum …
Attitudes Of Parents At Risk Of Inheriting Li-Fraumeni Syndrome Towards Predictive Genetic Testing In Their Minor-Aged Children., Leslie A. Newman
Attitudes Of Parents At Risk Of Inheriting Li-Fraumeni Syndrome Towards Predictive Genetic Testing In Their Minor-Aged Children., Leslie A. Newman
Dissertations & Theses (Open Access)
Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome which predisposes individuals to cancer beginning in childhood. These risks are spread across a lifetime, from early childhood to adulthood. Mutations in the p53 tumor suppressor gene are known to cause the majority of cases of LFS. The risk for early onset cancer in individuals with Li-Fraumeni Syndrome is high. Studies have shown that individuals with LFS have a 90% lifetime cancer risk. Children under 18 have up to a 15% chance of cancer development. Effectiveness of cancer screening and management in individuals with Li-Fraumeni Syndrome is unclear. Screening for LFS-associated cancers …
Editor's Note, Padraig O'Malley
Editor's Note, Padraig O'Malley
New England Journal of Public Policy
This issue of the journal can be summed up in one word: provocative. At least two articles break new ground. Anthony Robbins and Phyllis Freeman explore the ways in which environmentally oriented public health is uniquely suited to help organized medical care in providing health and in restraining expenditures. Janet Farrell Smith challenges policymakers to look at what will soon become a hot issue — the medical use of genetic information. The genetic testing of children, now becoming prevalent in the foster care and pre-adoptive stage in order to facilitate placement and satisfy prospective parents’ “need to know,” is already …
Genetic Testing: A Cautionary Tale Of Foster And Pre-Adoptive Children, Janet Farrell Smith
Genetic Testing: A Cautionary Tale Of Foster And Pre-Adoptive Children, Janet Farrell Smith
New England Journal of Public Policy
Genetic testing of children in the foster care and pre-adoptive stage may be thought to facilitate child placement and satisfy prospective parents’ need to know. But, the policy analysis in this paper recommends great caution, especially given eugenic attitudes in the history of adoption and the risk of creating a second tier of un-adoptable children. Testing should be done only when two conditions are satisfied: test information is medically useful for childhood onset diseases; test information supports and does not diminish the child’s access to present and future healthcare (or the child’s future insurability). Public policy needs to make a …