{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:41Z","timestamp":1792167221179,"version":"4.4.0"},"reference-count":71,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,8,8]],"date-time":"2015-08-08T00:00:00Z","timestamp":1438992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,8,8]],"date-time":"2015-08-08T00:00:00Z","timestamp":1438992000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with degeneration of the anterior horn cells in the spinal column. Five SMA subtypes exist with classification dependent upon the motor milestones achieved. Study of the\n                    <jats:italic>SMN1<\/jats:italic>\n                    (survival motor neuron) and\n                    <jats:italic>SMN2<\/jats:italic>\n                    genes as well as the concepts of the \u201c2\u2009+\u20090\u201d carriers, gene conversion, de novo mutations and intragenic mutations allow for a better understanding of SMA. Detailing the carrier and diagnostic testing options further deepens the genetic counselor's knowledge of SMA. A review of care guidelines and research options is included as this information gives a patient a well\u2010rounded view of SMA. Although SMA is most commonly associated with the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene, a number of spinal muscular atrophies not caused by genetic changes in this gene may be included as differential diagnoses until confirmatory testing can be completed. SMA is a complex condition requiring a detailed knowledge on the genetic counselor's part in order to explain the disorder to the patient with clarity thus facilitating increased communication and decision making guidance with the patient.\n                  <\/jats:p>","DOI":"10.1007\/s10897-015-9859-z","type":"journal-article","created":{"date-parts":[[2015,8,6]],"date-time":"2015-08-06T21:59:36Z","timestamp":1438898376000},"page":"32-43","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors"],"prefix":"10.1002","volume":"25","author":[{"given":"Amanda","family":"Carr\u00e9","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Drexel University College of Medicine 216 N. Broad St, Feinstein Building 4th Floor, MS 990 Philadelphia PA 19102 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice","family":"Empey","sequence":"additional","affiliation":[{"name":"Integrated Genetics Laboratory Corporation of America\u00ae Holdings Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181a6d03a"},{"key":"e_1_2_7_3_1","first-page":"1233","article-title":"ASHG\/ACMG report: points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents","volume":"57","author":"American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.24.2841"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10110"},{"key":"e_1_2_7_6_1","unstructured":"Baumbach\u2010Reardon L. Sacharow S. &Ahearn M. E.(2012).Spinal muscular atrophy X\u2010linked infantile. GeneReviews [Internet]. Retrieved fromhttp:\/\/www.genetests.org\/by\u2010genereview."},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00227-0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-10-24"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.2747"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg256"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0147"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/513886"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-014-0316-3"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.171105098"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI35432"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.11.121"},{"key":"e_1_2_7_20_1","first-page":"113","article-title":"Proximal spinal muscular atrophy: current orthopedic perspective","volume":"6","author":"Haaker G.","year":"2013","journal-title":"The Application of Clinical Genetics"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090106"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305670"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh226"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1377"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110103"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240316"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.23-12-05131.2003"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021296"},{"key":"e_1_2_7_29_1","unstructured":"La Spada A.(2011).Spinal and bulbar muscular atrophy. GeneReviews [Internet]. Retrieved fromhttp:\/\/www.genetests.org\/by\u2010genereview."},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1531"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.84"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00132-7"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1258\/0007142991902466"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.472"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-006-9077-9"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0828-x"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.4.1.15"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10425"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60680-0"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201288"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.004"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(78)90072-2"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305668"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318188d069"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_2_7_49_1","unstructured":"Prior T. &Russman B.(2013).Spinal muscular atrophy. GeneReviews [Internet]. Retrieved fromhttp:\/\/www.genetests.org\/by\u2010genereview."},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30251"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318220d523"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90210-C"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201207087"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.113.212407"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.631"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057950"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305673"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200404"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3563507"},{"key":"e_1_2_7_61_1","volume-title":"Judgment under uncertainty: Heuristics and biases","author":"Slovic P.","year":"1982"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201821"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005268"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012140"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/456478"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00274-7"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305788"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_7_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2013.11.006"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.12224"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10897-015-9859-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10897-015-9859-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-015-9859-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:05:16Z","timestamp":1694747116000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-015-9859-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,8]]},"references-count":71,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1007\/s10897-015-9859-z"],"URL":"https:\/\/doi.org\/10.1007\/s10897-015-9859-z","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,8]]}}}