Matches in SemOpenAlex for { <https://semopenalex.org/work/W829796618> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W829796618 endingPage "81" @default.
- W829796618 startingPage "76" @default.
- W829796618 abstract "To relate functional outcomes to mutation type and age at evaluation in patients with Rett syndrome (RTT).We identified 96 RTT patients with mutations in the MECP2 (methyl-CpG-binding protein 2) gene. Chart analysis, clinical evaluation, and functional measures were completed.Among 11 mutation groups, a statistically significant group effect of mutation type was observed for self-care, upper extremity function, and mobility, on standardized measures administered by occupational and physical therapists. Patients with R133C and uncommon mutations tended to perform best on upper extremity and self-care items, whereas patients with R133C, R306C and R294X had the highest scores on the mobility items. The worst performers on upper extremity and self-care items were patients with large deletions, R255X, R168X, and T158M mutations. The lowest scores for mobility were found in patients with T158M, R255X, R168X, and R270X mutations. On categorical variables as reported by parents at the time of initial evaluation, patients with R133C and R294X were most likely to have hand use, those with R133C, R294X, R306C and small deletions were most likely to be ambulatory, and those with R133C were most likely to be verbal.Functional performance in RTT patients may relate to the type of mutation. Knowledge of these relationships is useful for developing appropriate rehabilitation strategies and prognosis." @default.
- W829796618 created "2016-06-24" @default.
- W829796618 creator A5015329790 @default.
- W829796618 creator A5016055311 @default.
- W829796618 creator A5030806377 @default.
- W829796618 creator A5043213233 @default.
- W829796618 creator A5047674079 @default.
- W829796618 creator A5067361662 @default.
- W829796618 creator A5070694102 @default.
- W829796618 date "2016-01-01" @default.
- W829796618 modified "2023-10-10" @default.
- W829796618 title "Functional outcomes in Rett syndrome" @default.
- W829796618 cites W1559742681 @default.
- W829796618 cites W1995221355 @default.
- W829796618 cites W1998297242 @default.
- W829796618 cites W2004492872 @default.
- W829796618 cites W2009039561 @default.
- W829796618 cites W2014538187 @default.
- W829796618 cites W2021128111 @default.
- W829796618 cites W2029449888 @default.
- W829796618 cites W2040222619 @default.
- W829796618 cites W2056360294 @default.
- W829796618 cites W2062138338 @default.
- W829796618 cites W2063840478 @default.
- W829796618 cites W2066619092 @default.
- W829796618 cites W2092457144 @default.
- W829796618 cites W2095111987 @default.
- W829796618 cites W2113595463 @default.
- W829796618 cites W2113926943 @default.
- W829796618 cites W2129654526 @default.
- W829796618 cites W2130899493 @default.
- W829796618 cites W2163540024 @default.
- W829796618 doi "https://doi.org/10.1016/j.braindev.2015.06.005" @default.
- W829796618 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4695286" @default.
- W829796618 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26175308" @default.
- W829796618 hasPublicationYear "2016" @default.
- W829796618 type Work @default.
- W829796618 sameAs 829796618 @default.
- W829796618 citedByCount "8" @default.
- W829796618 countsByYear W8297966182016 @default.
- W829796618 countsByYear W8297966182017 @default.
- W829796618 countsByYear W8297966182018 @default.
- W829796618 countsByYear W8297966182019 @default.
- W829796618 countsByYear W8297966182022 @default.
- W829796618 countsByYear W8297966182023 @default.
- W829796618 crossrefType "journal-article" @default.
- W829796618 hasAuthorship W829796618A5015329790 @default.
- W829796618 hasAuthorship W829796618A5016055311 @default.
- W829796618 hasAuthorship W829796618A5030806377 @default.
- W829796618 hasAuthorship W829796618A5043213233 @default.
- W829796618 hasAuthorship W829796618A5047674079 @default.
- W829796618 hasAuthorship W829796618A5067361662 @default.
- W829796618 hasAuthorship W829796618A5070694102 @default.
- W829796618 hasBestOaLocation W8297966182 @default.
- W829796618 hasConcept C104317684 @default.
- W829796618 hasConcept C126322002 @default.
- W829796618 hasConcept C127716648 @default.
- W829796618 hasConcept C1862650 @default.
- W829796618 hasConcept C2777543196 @default.
- W829796618 hasConcept C2778863441 @default.
- W829796618 hasConcept C35785553 @default.
- W829796618 hasConcept C501734568 @default.
- W829796618 hasConcept C54355233 @default.
- W829796618 hasConcept C71924100 @default.
- W829796618 hasConcept C86803240 @default.
- W829796618 hasConceptScore W829796618C104317684 @default.
- W829796618 hasConceptScore W829796618C126322002 @default.
- W829796618 hasConceptScore W829796618C127716648 @default.
- W829796618 hasConceptScore W829796618C1862650 @default.
- W829796618 hasConceptScore W829796618C2777543196 @default.
- W829796618 hasConceptScore W829796618C2778863441 @default.
- W829796618 hasConceptScore W829796618C35785553 @default.
- W829796618 hasConceptScore W829796618C501734568 @default.
- W829796618 hasConceptScore W829796618C54355233 @default.
- W829796618 hasConceptScore W829796618C71924100 @default.
- W829796618 hasConceptScore W829796618C86803240 @default.
- W829796618 hasIssue "1" @default.
- W829796618 hasLocation W8297966181 @default.
- W829796618 hasLocation W8297966182 @default.
- W829796618 hasLocation W8297966183 @default.
- W829796618 hasLocation W8297966184 @default.
- W829796618 hasOpenAccess W829796618 @default.
- W829796618 hasPrimaryLocation W8297966181 @default.
- W829796618 hasRelatedWork W1953849490 @default.
- W829796618 hasRelatedWork W1975365801 @default.
- W829796618 hasRelatedWork W1990950692 @default.
- W829796618 hasRelatedWork W2005223902 @default.
- W829796618 hasRelatedWork W2021698162 @default.
- W829796618 hasRelatedWork W2043493674 @default.
- W829796618 hasRelatedWork W2062942227 @default.
- W829796618 hasRelatedWork W2105665386 @default.
- W829796618 hasRelatedWork W2127311839 @default.
- W829796618 hasRelatedWork W2768544175 @default.
- W829796618 hasVolume "38" @default.
- W829796618 isParatext "false" @default.
- W829796618 isRetracted "false" @default.
- W829796618 magId "829796618" @default.
- W829796618 workType "article" @default.