{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:08Z","timestamp":1761717968873},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3980,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a pilot project utilizing saliva to identify the FMR\u20101 mutation in high\u2010risk special education students from four public school districts in Colorado. The program included presentations to special education teachers regarding fragile X syndrome, parental consent for testing, completion of a behavior checklist by the teachers, identification of special education students at high risk for fragile X syndrome, subsequent brief examination of face and hands, collection of a saliva sample by either Gatorade swish or brushing of the inside of the cheek, and analysis for the FMR\u20101 mutation by PCR. Equivocal samples were studied by direct DNA testing using Southern blot analysis, and abnormal results were confirmed by a blood analysis for the FMR\u20101 mutation. Mutant individuals received genetic counseling and medical and educational assessments to optimize treatment and intervention.<\/jats:p><jats:p>This pilot project was met with enthusiasm by the schools. Of the first 439 students evaluated, 68% were male with an average age of 7.75 years; 13% were mentally retarded or autistic. Most students referred for the evaluation were learning disabled (51%) and\/or had an Attention Deficit Hyperactivity Disorder (ADHD) (35%). The overall prevalence of the FMR\u20101 mutation was 5 of 439 or 1.1%. This relatively low yield is probably due to the high number of non\u2010retarded but learning disabled students tested. Of the mentally retarded patients tested, 3.5% were positive for the FMR\u20101 mutation; however, of the non\u2010retarded or learning disabled patients, only 0.79% were FMR\u20101 positive. The high\u2010risk criteria have been strengthened with a focus on mentally retarded individuals in an effort to increase our yield of affected individuals in the future. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510436","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:40:44Z","timestamp":1118497244000},"page":"474-481","source":"Crossref","is-referenced-by-count":31,"title":["Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR\u20101 testing"],"prefix":"10.1002","volume":"51","author":[{"given":"Randi J.","family":"Hagerman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise W.","family":"Staley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten A.","family":"Lang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tammi","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Uhlhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Jewell\u2010Smart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Hull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jodi","family":"Drisko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry","family":"Flom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette K.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230126"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1001\/jama.1993.03510130075034","article-title":"Rapid fragile X carrier screening and prenatal diagnosis using a non\u2010reactive PCR test","volume":"270","author":"Brown WT","year":"1993","journal-title":"JAMA"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03041.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970410010002"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340240"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430151"},{"key":"e_1_2_1_8_1","first-page":"1216","article-title":"Institutional screening for the fragile X syndrome","volume":"142","author":"Hagerman R","year":"1988","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380223"},{"key":"e_1_2_1_10_1","volume-title":"The Fragile X Syndrome: Diagnosis, Treatment and Research","author":"Hagerman RJ","year":"1991"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1542\/peds.89.3.395","article-title":"Girls with fragile X syndrome: Physical and neurocognitive status and outcome","volume":"89","author":"Hagerman RJ","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-157"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510404"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284720"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380219"},{"key":"e_1_2_1_16_1","volume-title":"1992 International Fragile X Conference Proceedings","author":"Lauria DP","year":"1992"},{"key":"e_1_2_1_17_1","volume-title":"1992 International Fragile X Conference Proceedings","author":"Meadows KL","year":"1992"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03461.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03361.x"},{"key":"e_1_2_1_20_1","first-page":"528","article-title":"Characteristics of fragile X relatives with different attitudes toward terminating an affected pregnancy","volume":"96","author":"Meryash DL","year":"1992","journal-title":"Am J Men Retardation"},{"key":"#cr-split#-e_1_2_1_21_1.1","unstructured":"MiezejeskiCM HintonVJ(1992): Fragile X learning disability"},{"key":"#cr-split#-e_1_2_1_21_1.2","unstructured":"Neurobehavior research diagnostic models and treatment options. 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