Alistair T Pagnamenta, Jing Yu, Susan Walker, Alexandra J Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carme Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Ibnouf Hussein, Sarah J Lindsay, Fiona Lalloo, Benito Banos-Pinero, David Evans, Lucy Mallin, Adrian Waite, Julie Evans, Andrew Newman, Zoe Allen, Cristina Perez-Becerril, Gavin Ryan, Rachel Hart, John Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw-Smith, D Gareth Evans, George J Burghel, Miriam J Smith, Emily Anderson, Rajesh Madhu, Helen Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T Rogers, Jackie A Cook, Miranda Durkie, James E East, Darren Fowler, Louise Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H Uhlig, Jenny C Taylor
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
American journal of human genetics
executive dysfunction including impaired goal setting ie planning organization skills strategic reasoning documented children born preterm vp 30 weeks1250 g however neurological basis impairment unknown study sought examine relationship brain abnormalities brain volumes neonatal magnetic resonance imaging mri goal setting abilities vp 13yearolds participants 159 children born vp prospective longitudinal study qualitative brain abnormality scores quantitative brain volumes derived neonatal mri brain scans 40 weeks gestational age 2 weeks goal setting 13 years assessed using deliskaplan executive function systems tower test rey complex figure behavioural assessment dysexecutive system children zoo map six part test composite score generated denoting overall performance goal setting measures separate regression models examined association neonatal brain abnormality scores brain volumes goal setting performance evidence higher neonatal white matter deep grey matter cerebellum abnormality scores associated poorer goal setting scores 13 years also evidence positive associations total brain volume cerebellum thalamic cortical grey matter volumes goal setting performance evidence associations largely persisted controlling potential confounders neonatal brain abnormality brain volumes associated goal setting outcome vp 13yearolds used conjunction clinical indicators neonatal mri may help identify vp children risk later executive dysfunction