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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, April 2016
|
| DOI | 10.1186/s13023-016-0422-2 |
| Pubmed ID | |
| Authors |
Channa F. de Winter, Melanie Baas, Emilia K. Bijlsma, John van Heukelingen, Sue Routledge, Raoul C. M. Hennekam |
| Abstract |
Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based database which we call 'waihonapedia' (waihona [meaning treasure in Hawaiian] encyclopaedia). We have built a waihonapedia system in a collaboration between physicians, social scientists, and parent support groups. The system consists of an initial extensive questionnaire for background cross-sectional data, and subsequent follow-up using small questionnaires, with a particular focus on behavioural aspects. The system was built to be used through the internet, ensuring a secure environment, respecting privacy for participants, and acting automated to allow for low costs and limiting human mistakes in data handling. Recruitment of participants is through the patient support groups. In addition, as a sub-study, we used the data from the waihonapedia system to compare the two proposed diagnostic classification systems for PTHS. We present here the results of the initial, cross-sectional questionnaire in which early development, physical health, cognition and behaviour are interrogated, and to which modules specific for PTHS were added on epilepsy and breathing patterns. We describe 101 individuals with a molecularly confirmed diagnosis of PTHS. Comparison of the two classification systems aimed at helping the clinical diagnosis was performed in 47 of the present PTHS individuals, with disappointing results for both. Internationally accepted clinical diagnostic criteria are needed. The present cross-sectional data on the natural history of PTHS have yielded useful information which will further increase when follow-up data will be added. No doubt this will improve both care and research. |
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 % |
|---|---|---|
| United Kingdom | 2 | 33% |
| Saudi Arabia | 1 | 17% |
| Unknown | 3 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 67% |
| Scientists | 1 | 17% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 91 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 12 | 13% |
| Student > Master | 11 | 12% |
| Student > Ph. D. Student | 10 | 11% |
| Student > Doctoral Student | 7 | 8% |
| Student > Bachelor | 7 | 8% |
| Other | 15 | 16% |
| Unknown | 29 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 12% |
| Psychology | 11 | 12% |
| Nursing and Health Professions | 9 | 10% |
| Biochemistry, Genetics and Molecular Biology | 7 | 8% |
| Neuroscience | 6 | 7% |
| Other | 13 | 14% |
| Unknown | 34 | 37% |
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 18 April 2016.
All research outputs
#7,301,532
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,016
of 3,105 outputs
Outputs of similar age
#97,986
of 316,298 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#25
of 52 outputs
Altmetric has tracked 25,373,627 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 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 67% 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 316,298 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 68% of its contemporaries.
We're also able to compare this research output to 52 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 51% of its contemporaries.