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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2017
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#37 of 2,636)
  • High Attention Score compared to outputs of the same age (96th percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

news
6 news outlets
blogs
2 blogs
policy
2 policy sources
twitter
11 X users
facebook
5 Facebook pages

Citations

dimensions_citation
135 Dimensions

Readers on

mendeley
205 Mendeley
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Title
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays
Published in
Orphanet Journal of Rare Diseases, April 2017
DOI 10.1186/s13023-017-0622-4
Pubmed ID
Authors

Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott, APSU Rare Diseases Impacts on Families Study group

Abstract

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. 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. 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.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 205 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 205 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 27 13%
Student > Ph. D. Student 23 11%
Researcher 21 10%
Other 13 6%
Student > Doctoral Student 13 6%
Other 38 19%
Unknown 70 34%
Readers by discipline Count As %
Medicine and Dentistry 35 17%
Biochemistry, Genetics and Molecular Biology 20 10%
Psychology 20 10%
Social Sciences 16 8%
Nursing and Health Professions 13 6%
Other 25 12%
Unknown 76 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 73. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 April 2021.
All research outputs
#499,601
of 22,963,381 outputs
Outputs from Orphanet Journal of Rare Diseases
#37
of 2,636 outputs
Outputs of similar age
#11,786
of 310,113 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 58 outputs
Altmetric has tracked 22,963,381 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,636 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has done particularly well, scoring higher than 98% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 310,113 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.