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Holly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G Brunner, Ineke van der Burgt, Charlotte W Ockeloen, Janneke H Schuurs-Hoeijmakers, Jolien S Klein Wassink-Ruiter, Connie Stumpel, Servi J C Stevens, Hans S Vles, Carlo M Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michael Nicouleau, Stanislas Lyonnet, Raphael A Bernier, Jennifer Gerdts, Bradley P Coe, Corrado Romano, Antonino Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gerard, David Genevieve, Bruno Delobel, Daphne Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thevenon, Jozef Gecz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurelia Jacquette, Annette Schenck, Evan E Eichler, Tjitske Kleefstra
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID...
March 3, 2016: American Journal of Human Genetics
Michael J Guralnick
This article provides an update on advances in both developmental and intervention science that have occurred in the field of early intervention for children with developmental delays in the past decade. From the perspective of developmental science, findings related to multiple and reciprocal pathways of influence on the development of children with delays that can inform early intervention practice are discussed. This is followed by a review of two prominent lines of early intervention research: promoting children's developm-ent by enhancing parent-sensitive responsiveness and improving children's cognitive and social outcomes in inclusive preschool settings...
January 13, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
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