A Qualitative Photo Elicitation Research Study to elicit the perception of young children with Developmental Disabilities such as ADHD and/or DCD and/or ASD on their participation.

Autor: Marieke Coussens, Birger Destoop, Stijn De Baets, Annemie Desoete, Ann Oostra, Guy Vanderstraeten, Hilde Van Waelvelde, Dominique Van de Velde

Publikováno v: PLoS ONE, Vol 15, Iss 3, p e0229538 (2020)

Participation, defined as 'involvement in life situations' according to the World Health Organisation, is a well-recognized concept and critical indicator of quality of life. In addition it has become an important outcome measure in child rehabilitat

Externí odkaz: https://doaj.org/article/bd75d67f11c145daae59309307fb89fe

Author response for 'Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants'

Autor: Yue Si, Annelies Dheedene, Lindsay B. Henderson, Erika D'haenens, Sarah Vergult, Farah Kanani, Jennifer B. Humberson, Lindsay Rhodes, Richard H. van Jaarsveld, Melissa Byler, Bert Callewaert, Eva Jacobs, Arnaud Vanlander, Laurie H. Seaver, Ann Oostra, Kathleen Brown, Michael J. Parker, Renske Oegema, Robert Roger Lebel, Francisca Millan, Margarita Saenz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb63e07b85d0673b5934c4cdb5444170
https://doi.org/10.1111/cge.13874/v2/response1

Neurodevelopmental outcomes of very preterm and very-low-birthweight infants in a population-based clinical cohort with a definite perinatal treatment policy

Autor: Aurelie Pascal, Eva Cloet, An Jonckheere, Alexandra Casaer, Paul Govaert, Christine Van Mol, Marie-Rose Van Hoestenberghe, Christine Van den Broeck, Gwenda Delanghe, Ann Oostra, Els Ortibus, Sabrina Laroche, Bieke Samijn, Katleen Plaskie, Els Bruneel, Gunnar Naulaers, Sonnaert Michel, Kris De Coen, James D'haese

Publikováno v: European journal of paediatric neurology

Background: With constant changes in neonatal care practices, recent information is valuable for healthcare providers and for parental counselling. The aim of the study was to describe the neuro-developmental outcome in a cohort of very preterm (VPT)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121e0ded083bebfa0a9f290731b7631c
https://hdl.handle.net/10067/1736630151162165141

Mutation update for the SATB2 gene

Autor: Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras

Publikováno v: Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e618cf5dc8d5560df1a89aab788c591
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17

Language development of children born following intracytoplasmic sperm injection (ICSI) combined with assisted oocyte activation (AOA)

Autor: Frauke Vanden Meerschaut, Ann Oostra, Anke Luyten, Petra De Sutter, Herbert Roeyers, Kim Bettens, Hannelore Gysels, Kristiane Van Lierde, Björn Heindryckx, Evelien D'haeseleer, Ylenia Thienpont, Griet De Witte

Publikováno v: International Journal of Language & Communication Disorders. 49:702-709

Background The effect of assisted reproduction technology (ART) on language development is still unclear. Moreover, different techniques are introduced at rapid pace and are not always accompanied by extensive follow-up programmes. Aims To investigat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b72cd72d80f842884e099bebbbdea87c
https://doi.org/10.1111/1460-6984.12100