FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2757123870> ?p ?o ?g. }

• W2757123870 endingPage "1380" @default.
• W2757123870 startingPage "1380" @default.
• W2757123870 abstract "To the Editor: We are pleased and would like to thank Hartley et al.1.Hartley T, Potter R, Badalato L,, Smith AC, Jarinova O, Boycott KM. Fragile X testing as a second-tier test. Genet Med. E-pub ahead of print 14 September, 2017.Google Scholar and Mullegama et al.2.Mullegama SV, Nguyen DC, Klein SD et al. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. E-pub ahead of print 21 September, 2017.Google Scholar for their interest in our study. The main purpose of our study was to raise awareness in the genetics community about the real prevalence of fragile X syndrome (FX) in males with nonsyndromic intellectual disability/learning delays (ID/LD) with or without autism spectrum disorder (ASD) and diagnostic yield of FX testing. In the past several years, we have observed an increased amount of FX testing requested by geneticists and other specialties such as primary care, neurology, and neurodevelopment. Moreover, the number of FX testing requests for females with ID/LD with or without ASD has increased as well. Our data from 2013 to 2015 revealed that FX testing had low diagnostic yield for males with ID/LD and males with ASD (2.5% and 0%, respectively), whereas chromosomal microarray provided higher diagnostic yields for both conditions. In “Fragile X Testing as a Second-Tier Test,” Hartley et al.1.Hartley T, Potter R, Badalato L,, Smith AC, Jarinova O, Boycott KM. Fragile X testing as a second-tier test. Genet Med. E-pub ahead of print 14 September, 2017.Google Scholar report similar findings: 2.4% diagnostic yield when FX testing was performed in a pediatric male population (<19 years old). In their letter, Mullegama et al.2.Mullegama SV, Nguyen DC, Klein SD et al. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. E-pub ahead of print 21 September, 2017.Google Scholar describe their experience over the past 15 years. They did not have positive FX testing giving 0% diagnostic yield when the test was performed in a pediatric male population (1–21 years old) with ID and/or ASD. In agreement with our observation, Hartley et al.1.Hartley T, Potter R, Badalato L,, Smith AC, Jarinova O, Boycott KM. Fragile X testing as a second-tier test. Genet Med. E-pub ahead of print 14 September, 2017.Google Scholar report that all of their last five patients with positive FX testing had clinical presentation and family history strongly suggestive of FX. In our institute, next-generation sequencing (NGS) genetic panels or whole-exome sequencing is requested as a second-tier test after negative chromosomal microarray. This is because, in our experience, NGS provided higher diagnostic yield than FX testing. Hartley et al.1.Hartley T, Potter R, Badalato L,, Smith AC, Jarinova O, Boycott KM. Fragile X testing as a second-tier test. Genet Med. E-pub ahead of print 14 September, 2017.Google Scholar propose that NGS approaches should be considered before FX testing because these approaches provided higher diagnostic yield. Additional findings such as severity of ID/LD, presence of major/multiple congenital anomalies, neurological symptoms, and family history may increase diagnostic yield. In a subgroup of patients with moderate or severe ID, the diagnostic yield of NGS was almost 30%.3.Hamdan F.F. Srour M. Capo-Chichi J.M. De novo mutations in moderate or severe intellectual disability.10.1371/journal.pgen.1004772PLoS Genet. 2014; 10: e1004772Google Scholar The diagnosis yield of exome sequencing in patients with ASD ranged from 3.1 to 28.6%. In addition, a subgroup with complex ASD (ASD with additional findings including neurological symptoms, psychiatric problems, or multiple congenital anomalies) was more likely to receive positive results.4.Rossi M. El-Khechen D. Black M.H. Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders.10.1016/j.pediatrneurol.2017.01.033Pediatr Neurol. 2017; 70: 34-43Google Scholar In summary, we agree with Hartley et al. and Mullegama et al. that FX testing should be considered only in patients with clinical features and/or family history consistent with FX instead of routinely performing in patients with ID/LD and/or ASD. NGS gene panels and whole-exome sequencing are valuable diagnostic tools and provide higher diagnostic yield than FX testing. However, both tests should be requested and interpreted by geneticists or health-care professionals with appropriate training. Appropriate pre- and posttest counseling must be offered. Certainly, these tests should be considered instead of single-gene tests in patients without features consistent with particular genetic syndromes. Current American College of Medical Genetics and Genomics guidelines do not include NGS in the diagnostic evaluation tool and only recommend first-tier chromosomal microarray, FX testing, and second-tier single-gene analysis, including MECP2 and PTEN, for individuals with ASD.5.for the Professional Practice and Guidelines Committee Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.1:CAS:528:DC%2BC3sXnt12ktrc%3D10.1038/gim.2013.32Genet Med. 2013; 15: 399-407Google Scholar Over the past few years, genetic diagnostic technology has improved tremendously, not only in accuracy but also in turnaround time. Additionally, new genes related to LD/ID and/or ASD continue to be discovered. As a result, we think it is time that the recommendations be updated in accordance with new knowledge. The authors declare no conflict of interest." @default.
• W2757123870 created "2017-10-06" @default.
• W2757123870 creator A5017296127 @default.
• W2757123870 creator A5036670808 @default.
• W2757123870 date "2017-12-01" @default.
• W2757123870 modified "2023-09-24" @default.
• W2757123870 title "Response to Hartley et al. and Mullegama et al." @default.
• W2757123870 cites W2058423880 @default.
• W2757123870 cites W2076055965 @default.
• W2757123870 cites W2587587226 @default.
• W2757123870 cites W2755934370 @default.
• W2757123870 cites W2758225933 @default.
• W2757123870 doi "https://doi.org/10.1038/gim.2017.148" @default.
• W2757123870 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28933791" @default.
• W2757123870 hasPublicationYear "2017" @default.
• W2757123870 type Work @default.
• W2757123870 sameAs 2757123870 @default.
• W2757123870 citedByCount "0" @default.
• W2757123870 crossrefType "journal-article" @default.
• W2757123870 hasAuthorship W2757123870A5017296127 @default.
• W2757123870 hasAuthorship W2757123870A5036670808 @default.
• W2757123870 hasBestOaLocation W27571238701 @default.
• W2757123870 hasConcept C118552586 @default.
• W2757123870 hasConcept C126322002 @default.
• W2757123870 hasConcept C151730666 @default.
• W2757123870 hasConcept C15744967 @default.
• W2757123870 hasConcept C17744445 @default.
• W2757123870 hasConcept C187212893 @default.
• W2757123870 hasConcept C199539241 @default.
• W2757123870 hasConcept C205778803 @default.
• W2757123870 hasConcept C2777267654 @default.
• W2757123870 hasConcept C2777630245 @default.
• W2757123870 hasConcept C2778538070 @default.
• W2757123870 hasConcept C2780105190 @default.
• W2757123870 hasConcept C2780673598 @default.
• W2757123870 hasConcept C551499885 @default.
• W2757123870 hasConcept C71924100 @default.
• W2757123870 hasConcept C86803240 @default.
• W2757123870 hasConcept C94625758 @default.
• W2757123870 hasConceptScore W2757123870C118552586 @default.
• W2757123870 hasConceptScore W2757123870C126322002 @default.
• W2757123870 hasConceptScore W2757123870C151730666 @default.
• W2757123870 hasConceptScore W2757123870C15744967 @default.
• W2757123870 hasConceptScore W2757123870C17744445 @default.
• W2757123870 hasConceptScore W2757123870C187212893 @default.
• W2757123870 hasConceptScore W2757123870C199539241 @default.
• W2757123870 hasConceptScore W2757123870C205778803 @default.
• W2757123870 hasConceptScore W2757123870C2777267654 @default.
• W2757123870 hasConceptScore W2757123870C2777630245 @default.
• W2757123870 hasConceptScore W2757123870C2778538070 @default.
• W2757123870 hasConceptScore W2757123870C2780105190 @default.
• W2757123870 hasConceptScore W2757123870C2780673598 @default.
• W2757123870 hasConceptScore W2757123870C551499885 @default.
• W2757123870 hasConceptScore W2757123870C71924100 @default.
• W2757123870 hasConceptScore W2757123870C86803240 @default.
• W2757123870 hasConceptScore W2757123870C94625758 @default.
• W2757123870 hasIssue "12" @default.
• W2757123870 hasLocation W27571238701 @default.
• W2757123870 hasLocation W27571238702 @default.
• W2757123870 hasOpenAccess W2757123870 @default.
• W2757123870 hasPrimaryLocation W27571238701 @default.
• W2757123870 hasRelatedWork W1964230368 @default.
• W2757123870 hasRelatedWork W2064685053 @default.
• W2757123870 hasRelatedWork W2075475113 @default.
• W2757123870 hasRelatedWork W2129128532 @default.
• W2757123870 hasRelatedWork W2580849430 @default.
• W2757123870 hasRelatedWork W3003172933 @default.
• W2757123870 hasRelatedWork W3087235829 @default.
• W2757123870 hasRelatedWork W3106819630 @default.
• W2757123870 hasRelatedWork W4244120490 @default.
• W2757123870 hasRelatedWork W4306392824 @default.
• W2757123870 hasVolume "19" @default.
• W2757123870 isParatext "false" @default.
• W2757123870 isRetracted "false" @default.
• W2757123870 magId "2757123870" @default.
• W2757123870 workType "article" @default.