The experiences of adolescent siblings of children with rare genetic conditions: “It's made me who I am”
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1636
Abstract: Childhood genetic conditions impact not only the child who is diagnosed but also the day‐to‐day lives of all members of a family. However, our understanding of the perspectives and needs of unaffected adolescents in families… read more here.
Keywords: adolescent siblings; children rare; genetic conditions; experiences adolescent ... See more keywords
How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1727
Abstract: Ataxia-telangiectasia (A-T) is a rare, childhood-onset, multi-systemic, progressive condition. Parents of children with rare diseases like A-T are emotionally, socially, and psychologically impacted by the diagnosis. To examine the parental perspective of having a child… read more here.
Keywords: ataxia telangiectasia; children rare; parents children; diagnosis ... See more keywords
The value of diagnostic testing for parents of children with rare genetic diseases
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0583-1
Abstract: Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey. Our study examines how parents and families value ES. We developed a discrete… read more here.
Keywords: children rare; value diagnostic; reported child; value ... See more keywords
Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Qualitative Studies on Health and Well-being"
DOI: 10.1080/17482631.2020.1725362
Abstract: ABSTRACT Purpose: The experiences of parents caring for the complex care needs of children with rare neurodevelopmental disorders are not well understood. Parents struggle to meet their children’s medical, behavioural, and social needs within and… read more here.
Keywords: rare neurodevelopmental; children rare; parents experience; caring children ... See more keywords
Splenogonadal Fusion in Children: A Rare Entity Mimicking Inguinal Tumor.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Nuclear Medicine"
DOI: 10.1097/rlu.0000000000002989
Abstract: Splenogonadal fusion (SGF) is a rare congenital malformation, which can be of a continuous or discontinuous type. It is characterized by splenic tissue fused with gonadal tissue. Because it lacks characteristic features, very few cases… read more here.
Keywords: rare entity; fusion children; fusion; entity mimicking ... See more keywords
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.16165
Abstract: This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing and advanced therapeutics such as… read more here.
Keywords: children rare; parents children; neurological disorders; rare neurological ... See more keywords
Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.16202
Abstract: This is the second of a three‐part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life‐limiting neurological disorders. When caring for… read more here.
Keywords: certainty hope; hope; children rare; neurological disorders ... See more keywords
Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records
Sign Up to like & getrecommendations! Published in 2018 at "Medical Principles and Practice"
DOI: 10.1159/000491391
Abstract: Objective: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders. Design: This retrospective study included children… read more here.
Keywords: sleep disordered; children rare; rare skeletal; respiratory ... See more keywords
The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1134-1
Abstract: BackgroundGiven the inherent complexity of rare paediatric diseases and the sensitive emotional context of the situations they create (due to the patients’ age and the tense uncertainty surrounding the progression of the disease), communication between… read more here.
Keywords: children rare; experience parents; communication; rare diseases ... See more keywords
Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph20054387
Abstract: Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995–2014 with 18 rare structural congenital… read more here.
Keywords: children rare; population based; rare structural; congenital anomalies ... See more keywords