Ontology type: schema:ScholarlyArticle Open Access: True
2017-12
AUTHORSYvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott, APSU Rare Diseases Impacts on Families Study group
ABSTRACTBACKGROUND: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases. RESULTS: Of 462 children, 96% were born in Australia, 55% were male, median age was 8.9 years (0-18.2). Four-hundred-and-twenty-eight (93%) had received a definitive diagnosis but 29 (7%) remained undiagnosed. Before receiving the correct diagnosis 38% consulted ≥ 6 different doctors. Among those with a diagnosis, 37% believed the diagnosis was delayed and 27% initially received a wrong diagnosis. Consequences of delayed diagnosis include anxiety, loss of reproductive confidence because of an ill-defined genetic risk, frustration and stress (54%), disease progression (37%), delays in treatment (25%) and inappropriate treatments (10%). Perceived reasons for diagnostic delays included lack of knowledge about the disease among health professionals (69.2%), lack of symptom awareness by the family (21.2%) and difficulties accessing tests (17.9%). Children with inborn errors of metabolism were less likely to have a delayed diagnosis compared with other disease groups (Chi-Sq = 17.1; P < 0.0001), most likely due to well-established and accessible biochemical screening processes. Diagnosis was given in person in 74% of cases, telephone in 18.5% and via a letter in 3.5%. Some families (16%) were dissatisfied with the way the diagnosis was delivered, citing lack of empathy and lack of information from health professionals. Psychological support at diagnosis was provided to 47.5%, but 86.2% believed that it should always be provided. Although 74.9% of parents believed that the diagnosis could have an impact on future family planning, only 44.8% received genetic counselling. CONCLUSION: Parents of children living with rare chronic and complex diseases have called for better education, resourcing of health professionals to prevent avoidable diagnostic delays, and to facilitate access to early interventions and treatments. Access to psychological support and genetic counselling should be available to all parents receiving a life-changing diagnosis for their child. More... »
PAGES68
http://scigraph.springernature.com/pub.10.1186/s13023-017-0622-4
DOIhttp://dx.doi.org/10.1186/s13023-017-0622-4
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1084737943
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/28399928
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Public Health and Health Services",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adaptation, Psychological",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adolescent",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Australia",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child, Preschool",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Delayed Diagnosis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Rare Diseases",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "University of Sydney",
"id": "https://www.grid.ac/institutes/grid.1013.3",
"name": [
"Australian Paediatric Surveillance Unit, Kids Research Institute, 2145, Westmead, NSW, Australia",
"Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, 2145, Sydney, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Zurynski",
"givenName": "Yvonne",
"id": "sg:person.01010125610.54",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010125610.54"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Sydney",
"id": "https://www.grid.ac/institutes/grid.1013.3",
"name": [
"Australian Paediatric Surveillance Unit, Kids Research Institute, 2145, Westmead, NSW, Australia",
"Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, 2145, Sydney, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Deverell",
"givenName": "Marie",
"id": "sg:person.0712273431.79",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712273431.79"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Sydney Children\u2019s Hospitals Network",
"id": "https://www.grid.ac/institutes/grid.430417.5",
"name": [
"Australian Paediatric Surveillance Unit, Kids Research Institute, 2145, Westmead, NSW, Australia",
"Genetic Metabolic Disorders Service, Sydney Children\u2019s Hospitals Network (Westmead), 2145, Westmead, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Dalkeith",
"givenName": "Troy",
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Sydney",
"id": "https://www.grid.ac/institutes/grid.1013.3",
"name": [
"Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, 2145, Sydney, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Johnson",
"givenName": "Sandra",
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Melbourne",
"id": "https://www.grid.ac/institutes/grid.1008.9",
"name": [
"Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, Sydney Children\u2019s Hospitals Network (Westmead), 2145, Westmead, NSW, Australia",
"Discipline of Child and Adolescent Health, and Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, Australia",
"Murdoch Children\u2019s Research Institute and Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, 3052, Parkville, Australia",
"Department of Paediatrics, University of Melbourne, 3010, Parkville, Vic, Australia"
],
"type": "Organization"
},
"familyName": "Christodoulou",
"givenName": "John",
"id": "sg:person.0670640744.23",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670640744.23"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Telethon Kids Institute, The University of Western Australia, 6009, Crawley, WA, Australia"
],
"type": "Organization"
},
"familyName": "Leonard",
"givenName": "Helen",
"id": "sg:person.0651212563.91",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651212563.91"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Sydney",
"id": "https://www.grid.ac/institutes/grid.1013.3",
"name": [
"Australian Paediatric Surveillance Unit, Kids Research Institute, 2145, Westmead, NSW, Australia",
"Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, 2145, Sydney, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Elliott",
"givenName": "Elizabeth J",
"id": "sg:person.01041536445.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01041536445.04"
],
"type": "Person"
},
{
"familyName": "APSU Rare Diseases Impacts on Families Study group",
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1186/s13023-016-0462-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004516000",
"https://doi.org/10.1186/s13023-016-0462-7"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13023-016-0462-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004516000",
"https://doi.org/10.1186/s13023-016-0462-7"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/adc.2007.134940",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005325164"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13023-016-0409-z",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016721685",
"https://doi.org/10.1186/s13023-016-0409-z"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1750-1172-8-22",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023823949",
"https://doi.org/10.1186/1750-1172-8-22"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.5888/pcd13.150491",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024252636"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ymgme.2016.01.007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030392077"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/bmj.38937.455949.55",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035215722"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2016.1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035311617",
"https://doi.org/10.1038/gim.2016.1"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1440-1754.2009.01608.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039250614"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1440-1754.2009.01608.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039250614"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.34372",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039969502"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1365-2648.2006.03736.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040394853"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1365-2648.2006.03736.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040394853"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12875-016-0488-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046236997",
"https://doi.org/10.1186/s12875-016-0488-x"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12875-016-0488-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046236997",
"https://doi.org/10.1186/s12875-016-0488-x"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1077269477",
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.5694/j.1326-5377.2006.tb00477.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1077269477"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1077427014",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079167540",
"type": "CreativeWork"
}
],
"datePublished": "2017-12",
"datePublishedReg": "2017-12-01",
"description": "BACKGROUND: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases.\nRESULTS: Of 462 children, 96% were born in Australia, 55% were male, median age was 8.9 years (0-18.2). Four-hundred-and-twenty-eight (93%) had received a definitive diagnosis but 29 (7%) remained undiagnosed. Before receiving the correct diagnosis 38% consulted\u2009\u2265\u20096 different doctors. Among those with a diagnosis, 37% believed the diagnosis was delayed and 27% initially received a wrong diagnosis. Consequences of delayed diagnosis include anxiety, loss of reproductive confidence because of an ill-defined genetic risk, frustration and stress (54%), disease progression (37%), delays in treatment (25%) and inappropriate treatments (10%). Perceived reasons for diagnostic delays included lack of knowledge about the disease among health professionals (69.2%), lack of symptom awareness by the family (21.2%) and difficulties accessing tests (17.9%). Children with inborn errors of metabolism were less likely to have a delayed diagnosis compared with other disease groups (Chi-Sq\u2009=\u200917.1; P\u2009<\u20090.0001), most likely due to well-established and accessible biochemical screening processes. Diagnosis was given in person in 74% of cases, telephone in 18.5% and via a letter in 3.5%. Some families (16%) were dissatisfied with the way the diagnosis was delivered, citing lack of empathy and lack of information from health professionals. Psychological support at diagnosis was provided to 47.5%, but 86.2% believed that it should always be provided. Although 74.9% of parents believed that the diagnosis could have an impact on future family planning, only 44.8% received genetic counselling.\nCONCLUSION: Parents of children living with rare chronic and complex diseases have called for better education, resourcing of health professionals to prevent avoidable diagnostic delays, and to facilitate access to early interventions and treatments. Access to psychological support and genetic counselling should be available to all parents receiving a life-changing diagnosis for their child.",
"genre": "research_article",
"id": "sg:pub.10.1186/s13023-017-0622-4",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.3570638",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1036535",
"issn": [
"1750-1172"
],
"name": "Orphanet Journal of Rare Diseases",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "12"
}
],
"name": "Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays",
"pagination": "68",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"957395f1c808c0b633e76a6b1d07d25c3367e240cd13bd35a1b27d140d67ebdc"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"28399928"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"101266602"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1186/s13023-017-0622-4"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1084737943"
]
}
],
"sameAs": [
"https://doi.org/10.1186/s13023-017-0622-4",
"https://app.dimensions.ai/details/publication/pub.1084737943"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T10:19",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000348_0000000348/records_54325_00000001.jsonl",
"type": "ScholarlyArticle",
"url": "https://link.springer.com/10.1186%2Fs13023-017-0622-4"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0622-4'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0622-4'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0622-4'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0622-4'
This table displays all metadata directly associated to this object as RDF triples.
225 TRIPLES
21 PREDICATES
57 URIs
33 LITERALS
21 BLANK NODES