Title |
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients
|
---|---|
Published in |
Journal of Neurodevelopmental Disorders, July 2014
|
DOI | 10.1186/1866-1955-6-18 |
Pubmed ID | |
Authors |
Hannah Broadbent, Emily K Farran, Esther Chin, Kay Metcalfe, May Tassabehji, Peter Turnpenny, Francis Sansbury, Emma Meaburn, Annette Karmiloff-Smith |
Abstract |
Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 2 | 40% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 80% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Italy | 1 | 2% |
Unknown | 49 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 10 | 20% |
Student > Bachelor | 8 | 16% |
Student > Master | 7 | 14% |
Researcher | 4 | 8% |
Professor > Associate Professor | 2 | 4% |
Other | 6 | 12% |
Unknown | 13 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Psychology | 10 | 20% |
Agricultural and Biological Sciences | 5 | 10% |
Medicine and Dentistry | 4 | 8% |
Biochemistry, Genetics and Molecular Biology | 3 | 6% |
Neuroscience | 3 | 6% |
Other | 11 | 22% |
Unknown | 14 | 28% |