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Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2014
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  • Good Attention Score compared to outputs of the same age (75th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

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Title
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
Published in
Orphanet Journal of Rare Diseases, November 2014
DOI 10.1186/s13023-014-0177-6
Pubmed ID
Authors

Hendriekje Eggink, Anouk Kuiper, Kathryn J Peall, Maria Fiorella Contarino, Annet M Bosch, Bart Post, Deborah A Sival, Marina AJ Tijssen, Tom J de Koning

Abstract

BackgroundInborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children¿s health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been investigated. We therefore conducted a case study on the HRQOL and development of adaptive functioning in children with an IEM and a movement disorder.MethodsChildren with co-existent IEM and movement disorders were recruited from paediatric outpatient clinics. We systematically collected clinical data and videotaped examinations. The movement disorders were diagnosed by a panel of specialists. The Pediatric Quality of Life Inventory 4.0 and the Vineland Adaptive Behavior Scale were used to assess the HRQOL and adaptive functioning, respectively.ResultsWe recruited 24 children (10 boys, mean age 7y 5 m). Six types of movement disorders were recognised by the expert panel, most frequently dystonia (16/24), myoclonus (7/24) and ataxia (6/24). Mean HRQOL (49.63, SD 21.78) was significantly lower than for other chronic disorders in childhood (e.g. malignancy, diabetes mellitus, rheumatic disease, psychiatric disorders; p <0.001) and tended to diminish with the severity of the movement disorder. The majority of participants had delayed adaptive functioning, most evident in their activities of daily living (51.92%, SD 27.34). Delay in adaptive functioning had a significant impact upon HRQOL (p =0.018).ConclusionsA broad spectrum of movement disorders was seen in patients with IEM, although only five were receiving treatment. The overall HRQOL in this population is significantly reduced. Delay in adaptive functioning, most frequently seen in relation to activities of daily living, and the severity of the movement disorder contribute to this lower HRQOL. We plead for a greater awareness of movement disorders and that specialists should be asked to diagnose and treat these wherever possible.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 70 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 70 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 16%
Student > Bachelor 9 13%
Student > Master 7 10%
Researcher 6 9%
Student > Postgraduate 5 7%
Other 15 21%
Unknown 17 24%
Readers by discipline Count As %
Medicine and Dentistry 19 27%
Neuroscience 5 7%
Agricultural and Biological Sciences 5 7%
Pharmacology, Toxicology and Pharmaceutical Science 3 4%
Biochemistry, Genetics and Molecular Biology 3 4%
Other 14 20%
Unknown 21 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 27 June 2019.
All research outputs
#6,778,700
of 24,164,942 outputs
Outputs from Orphanet Journal of Rare Diseases
#920
of 2,840 outputs
Outputs of similar age
#90,460
of 370,672 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#22
of 99 outputs
Altmetric has tracked 24,164,942 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 2,840 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.9. This one has gotten more attention than average, scoring higher than 66% 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 370,672 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 75% of its contemporaries.
We're also able to compare this research output to 99 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.