Genetic counseling and genome sequencing in pediatric rare disease
AM Elliott - Cold spring harbor perspectives in …, 2020 - perspectivesinmedicine.cshlp.org
Both genome sequencing (GS) and exome sequencing (ES) have proven to be
revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and …
revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and …
Psychosocial profiles of parents of children with undiagnosed diseases: managing well or just managing?
A McConkie-Rosell, SR Hooper, LDM Pena… - Journal of genetic …, 2018 - Springer
Little is known about the psychosocial profiles of parents who have a child with an
undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases …
undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases …
“Before Facebook and before social media… we did not know anybody else that had this”: parent perspectives on internet and social media use during the pediatric …
KS Barton, A Wingerson, JR Barzilay… - Journal of Community …, 2019 - Springer
Parents of children who undergo clinical genetic testing have significant informational and
emotional support needs at different stages of the testing process. We analyzed parent …
emotional support needs at different stages of the testing process. We analyzed parent …
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era
EF Macnamara, K Schoch, EG Kelley… - Journal of genetic …, 2019 - Wiley Online Library
The “diagnostic odyssey” is well known and described in genetic counseling literature.
Studies addressing the psychological, emotional, and financial costs of not having a …
Studies addressing the psychological, emotional, and financial costs of not having a …
How do parents deal with their children's chronic kidney disease? A qualitative study for identifying factors related to parent's adaptation
Background Parents' adaptation affects the health outcomes of children with chronic kidney
diseases (CKD). Identifying factors that affect parents' adaptation is necessary to understand …
diseases (CKD). Identifying factors that affect parents' adaptation is necessary to understand …
Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening
M Raspa, O Kutsa, SM Andrews, AY Gwaltney… - European Journal of …, 2024 - nature.com
Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic
conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even …
conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even …
“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey
NT Deuitch, E Beckman, MC Halley… - Journal of genetic …, 2021 - Wiley Online Library
Parents of children with undiagnosed conditions struggle to obtain information about how to
treat and support their children. It can be particularly challenging to find communities and …
treat and support their children. It can be particularly challenging to find communities and …
[HTML][HTML] Determining the topic evolution and sentiment polarity for albinism in a Chinese online health community: machine learning and social network analysis
Q Bi, L Shen, R Evans, Z Zhang, S Wang… - JMIR Medical …, 2020 - medinform.jmir.org
Background: There are more than 6000 rare diseases in existence today, with the number of
patients with these conditions rapidly increasing. Most research to date has focused on the …
patients with these conditions rapidly increasing. Most research to date has focused on the …
Communication and the appraisal of uncertainty: exploring parents' communication with credible authorities in the context of chronic childhood illness
Individuals with chronic illnesses must manage long-term uncertainty as they cope with the
ways the illness influences their lives. In the context of pediatric illnesses, parents must …
ways the illness influences their lives. In the context of pediatric illnesses, parents must …
Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy
M Bell, BB Biesecker, J Bodurtha, HL Peay - Clinical genetics, 2019 - Wiley Online Library
Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular
dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope …
dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope …