Matches in SemOpenAlex for { <https://semopenalex.org/work/W4372341567> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W4372341567 abstract "Abstract Fragile X Syndrome (FXS) is an X-linked disorder leading to the loss of expression of FMR1 -protein product, FMRP. The absence or deficiency of FMRP is thought to result in the characteristic FXS phenotypes, including intellectual disability. Identifying the relationship between FMRP levels and IQ may be critical to better understand underlying mechanisms and advance treatment development and planning. A sample of 80 individuals with FXS (67% male), aged 8–45 years, completed IQ testing and blood draw via venipuncture to determine the relationship between IQ scores and FMRP levels as well as the normalcy of IQ distributions. In females with FXS only, higher FMRP levels were associated with higher IQ. In contrast, males with FXS showed a downward shifted but otherwise normal distribution of IQ scores. Our findings offer a paradigm-shifting views of FXS—males with FXS have normally distributed IQ that is downshifted 5 standard deviations. Our novel work provides evidence of a “FXS standard curve”, and is a critical step towards establishing molecular markers of disease severity in FXS. There is much future work to better understand the mechanism by which FMRP loss leads to intellectual disability and what biological/genetic and socio-environmental factors contribute to variation in IQ." @default.
- W4372341567 created "2023-05-07" @default.
- W4372341567 creator A5012860439 @default.
- W4372341567 creator A5013134939 @default.
- W4372341567 creator A5020666518 @default.
- W4372341567 creator A5033803904 @default.
- W4372341567 date "2023-05-05" @default.
- W4372341567 modified "2023-09-27" @default.
- W4372341567 title "A Paradigm Shifting View of Intellectual Disability: A Near Normal Distribution of IQ in Fragile X Syndrome" @default.
- W4372341567 cites W1973198154 @default.
- W4372341567 cites W1979516671 @default.
- W4372341567 cites W1988544524 @default.
- W4372341567 cites W2004772569 @default.
- W4372341567 cites W2018862515 @default.
- W4372341567 cites W2040306383 @default.
- W4372341567 cites W2059246505 @default.
- W4372341567 cites W2081832480 @default.
- W4372341567 cites W2087858364 @default.
- W4372341567 cites W2092400733 @default.
- W4372341567 cites W2097106481 @default.
- W4372341567 cites W2105912717 @default.
- W4372341567 cites W2114995535 @default.
- W4372341567 cites W2117342187 @default.
- W4372341567 cites W2122684341 @default.
- W4372341567 cites W2134632142 @default.
- W4372341567 cites W2148264271 @default.
- W4372341567 cites W2150200318 @default.
- W4372341567 cites W2328976790 @default.
- W4372341567 cites W2998545185 @default.
- W4372341567 cites W3203830385 @default.
- W4372341567 cites W4200285863 @default.
- W4372341567 cites W4226292273 @default.
- W4372341567 cites W4308635056 @default.
- W4372341567 cites W4323359146 @default.
- W4372341567 doi "https://doi.org/10.21203/rs.3.rs-2869313/v1" @default.
- W4372341567 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37205401" @default.
- W4372341567 hasPublicationYear "2023" @default.
- W4372341567 type Work @default.
- W4372341567 citedByCount "0" @default.
- W4372341567 crossrefType "posted-content" @default.
- W4372341567 hasAuthorship W4372341567A5012860439 @default.
- W4372341567 hasAuthorship W4372341567A5013134939 @default.
- W4372341567 hasAuthorship W4372341567A5020666518 @default.
- W4372341567 hasAuthorship W4372341567A5033803904 @default.
- W4372341567 hasBestOaLocation W43723415671 @default.
- W4372341567 hasConcept C104317684 @default.
- W4372341567 hasConcept C118552586 @default.
- W4372341567 hasConcept C138496976 @default.
- W4372341567 hasConcept C15744967 @default.
- W4372341567 hasConcept C166047926 @default.
- W4372341567 hasConcept C167925730 @default.
- W4372341567 hasConcept C169760540 @default.
- W4372341567 hasConcept C169900460 @default.
- W4372341567 hasConcept C2777630245 @default.
- W4372341567 hasConcept C2779063550 @default.
- W4372341567 hasConcept C2779954681 @default.
- W4372341567 hasConcept C3020422209 @default.
- W4372341567 hasConcept C54355233 @default.
- W4372341567 hasConcept C548259974 @default.
- W4372341567 hasConcept C551499885 @default.
- W4372341567 hasConcept C71924100 @default.
- W4372341567 hasConcept C86803240 @default.
- W4372341567 hasConceptScore W4372341567C104317684 @default.
- W4372341567 hasConceptScore W4372341567C118552586 @default.
- W4372341567 hasConceptScore W4372341567C138496976 @default.
- W4372341567 hasConceptScore W4372341567C15744967 @default.
- W4372341567 hasConceptScore W4372341567C166047926 @default.
- W4372341567 hasConceptScore W4372341567C167925730 @default.
- W4372341567 hasConceptScore W4372341567C169760540 @default.
- W4372341567 hasConceptScore W4372341567C169900460 @default.
- W4372341567 hasConceptScore W4372341567C2777630245 @default.
- W4372341567 hasConceptScore W4372341567C2779063550 @default.
- W4372341567 hasConceptScore W4372341567C2779954681 @default.
- W4372341567 hasConceptScore W4372341567C3020422209 @default.
- W4372341567 hasConceptScore W4372341567C54355233 @default.
- W4372341567 hasConceptScore W4372341567C548259974 @default.
- W4372341567 hasConceptScore W4372341567C551499885 @default.
- W4372341567 hasConceptScore W4372341567C71924100 @default.
- W4372341567 hasConceptScore W4372341567C86803240 @default.
- W4372341567 hasLocation W43723415671 @default.
- W4372341567 hasLocation W43723415672 @default.
- W4372341567 hasOpenAccess W4372341567 @default.
- W4372341567 hasPrimaryLocation W43723415671 @default.
- W4372341567 hasRelatedWork W2017233060 @default.
- W4372341567 hasRelatedWork W2056245836 @default.
- W4372341567 hasRelatedWork W2153178246 @default.
- W4372341567 hasRelatedWork W2474500222 @default.
- W4372341567 hasRelatedWork W2760477048 @default.
- W4372341567 hasRelatedWork W2932353221 @default.
- W4372341567 hasRelatedWork W2998545185 @default.
- W4372341567 hasRelatedWork W3028717067 @default.
- W4372341567 hasRelatedWork W4372341567 @default.
- W4372341567 hasRelatedWork W2550145044 @default.
- W4372341567 isParatext "false" @default.
- W4372341567 isRetracted "false" @default.
- W4372341567 workType "article" @default.