| Title |
Behavioural and emotional problems, intellectual impairment and health‐related quality of life in patients with organic acidurias and urea cycle disorders
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, August 2015
|
| DOI | 10.1007/s10545-015-9887-8 |
| Pubmed ID | |
| Authors |
Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner, Chris Mühlhausen, Angels Garcia‐Cazorla, Florian Gleich, Gisela Haege, Peter Burgard, on behalf of the E‐IMD consortium |
| Abstract |
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected. Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data. Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31 % of OAD, 43 % of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95 %CI: 1.39-27.99), but HRQoL was independent from both variables. Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients' HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 2 | 33% |
| United States | 1 | 17% |
| Unknown | 3 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 3 | 50% |
| Science communicators (journalists, bloggers, editors) | 2 | 33% |
| Members of the public | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 84 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 84 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 10 | 12% |
| Researcher | 9 | 11% |
| Student > Bachelor | 9 | 11% |
| Student > Ph. D. Student | 7 | 8% |
| Other | 6 | 7% |
| Other | 19 | 23% |
| Unknown | 24 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 24% |
| Psychology | 13 | 15% |
| Biochemistry, Genetics and Molecular Biology | 7 | 8% |
| Computer Science | 4 | 5% |
| Agricultural and Biological Sciences | 3 | 4% |
| Other | 10 | 12% |
| Unknown | 27 | 32% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 12 December 2019.
All research outputs
#12,767,869
of 22,881,964 outputs
Outputs from Journal of Inherited Metabolic Disease
#1,155
of 1,844 outputs
Outputs of similar age
#115,832
of 267,562 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#5
of 12 outputs
Altmetric has tracked 22,881,964 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,844 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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 267,562 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 56% of its contemporaries.
We're also able to compare this research output to 12 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 58% of its contemporaries.