PURPOSE: To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD). METHODS: This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice. FINDINGS: Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum. CONCLUSIONS: To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood. CLINICAL RELEVANCE: Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.
PURPOSE: To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD). METHODS: This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice. FINDINGS: Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum. CONCLUSIONS: To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood. CLINICAL RELEVANCE: Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.
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Authors: Joachim Hallmayer; Sue Cleveland; Andrea Torres; Jennifer Phillips; Brianne Cohen; Tiffany Torigoe; Janet Miller; Angie Fedele; Jack Collins; Karen Smith; Linda Lotspeich; Lisa A Croen; Sally Ozonoff; Clara Lajonchere; Judith K Grether; Neil Risch Journal: Arch Gen Psychiatry Date: 2011-07-04
Authors: Michael E Talkowski; Sureni V Mullegama; Jill A Rosenfeld; Bregje W M van Bon; Yiping Shen; Elena A Repnikova; Julie Gastier-Foster; Devon Lamb Thrush; Sekar Kathiresan; Douglas M Ruderfer; Colby Chiang; Carrie Hanscom; Carl Ernst; Amelia M Lindgren; Cynthia C Morton; Yu An; Caroline Astbury; Louise A Brueton; Klaske D Lichtenbelt; Lesley C Ades; Marco Fichera; Corrado Romano; Jeffrey W Innis; Charles A Williams; Dennis Bartholomew; Margot I Van Allen; Aditi Parikh; Lilei Zhang; Bai-Lin Wu; Robert E Pyatt; Stuart Schwartz; Lisa G Shaffer; Bert B A de Vries; James F Gusella; Sarah H Elsea Journal: Am J Hum Genet Date: 2011-10-07 Impact factor: 11.025
Authors: Reinhard Ullmann; Gillian Turner; Maria Kirchhoff; Wei Chen; Bruce Tonge; Carla Rosenberg; Michael Field; Angela M Vianna-Morgante; Louise Christie; Ana C Krepischi-Santos; Lynn Banna; Avril V Brereton; Alyssa Hill; Anne-Marie Bisgaard; Ines Müller; Claus Hultschig; Fikret Erdogan; Georg Wieczorek; H Hilger Ropers Journal: Hum Mutat Date: 2007-07 Impact factor: 4.878
Authors: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler Journal: Science Date: 2007-03-15 Impact factor: 47.728
Authors: S Ricci; R Businaro; F Ippoliti; V R Lo Vasco; F Massoni; E Onofri; G M Troili; V Pontecorvi; M Morelli; M Rapp Ricciardi; T Archer Journal: Neurotox Res Date: 2013-04-19 Impact factor: 3.911