FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014437315> ?p ?o ?g. }

• W2014437315 endingPage "215" @default.
• W2014437315 startingPage "204" @default.
• W2014437315 abstract "Background Prader–Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of expression of maternally imprinted genes situated in the 15q11-13 chromosome region. The origin is a ‘de novo’ deletion in the paternal chromosome in 70% of the cases and a maternal uniparental disomy in 25%. The two main genotypes show differences, notably regarding cognitive and behavioural features, but the mechanisms are not clear. This study assessed cognitive impairment in a cohort of adults with genetically confirmed PWS, analysed their profiles of cognitive strengths and weaknesses, and compared the profiles in terms of genotype. Methods Ninety-nine male and female adults participated, all inpatients on a specialised unit for the multidisciplinary care of PWS. The Wechsler Adult Intelligence Scale (WAIS-III) was administered to all patients in identical conditions by the same psychologist. Eighty-five patients were able to cope with the test situation. Their scores were analysed with non-parametric statistical tools. The correlations with sex, age and body mass index were explored. Two genotype groups were compared: deletion (n = 57) and non-deletion (n = 27). Results The distribution of intelligence quotients in the total cohort was non-normal, with the following values (medians): Full Scale Intelligence Quotient (FSIQ): 52.0 (Q1:46.0; Q3:60.0), Verbal Intellectual Quotient (VIQ): 53.0 (Q1:48; Q3:62) and Performance Intellectual Quotient (PIQ): 52.5 (Q1:48; Q3:61). No correlation was found with sex, age or body mass index. Comparison between groups showed no significant difference in FSIQ or VIQ. PIQ scores were significantly better in the deletion group. The total cohort and the deletion group showed the VIQ = PIQ profile, whereas VIQ > PIQ was observed in the non-deletion group. The subtest scores in the two groups showed significant differences, with the deletion group scoring better in three subtests: object assembly, picture arrangement and digit symbol coding. Some relative strengths and weaknesses concerned the total cohort, but others concerned only one genotype. Discussion We documented a global impairment in the intellectual abilities of a large sample of French PWS patients. The scores were slightly lower than those reported in most other studies. Our data confirmed the previously published differences in the cognitive profiles of the two main PWS genotypes and offer new evidence to support this hypothesis. These results could guide future neuropsychological studies to determine the cognitive processing in PWS. This knowledge is essential to improve our understanding of gene-brain-behaviour relationships and to open new perspectives on therapeutic and educational programmes." @default.
• W2014437315 created "2016-06-24" @default.
• W2014437315 creator A5008692206 @default.
• W2014437315 creator A5012797158 @default.
• W2014437315 creator A5016557508 @default.
• W2014437315 creator A5027868620 @default.
• W2014437315 creator A5030475224 @default.
• W2014437315 creator A5053616336 @default.
• W2014437315 creator A5064528607 @default.
• W2014437315 creator A5065483124 @default.
• W2014437315 creator A5079364715 @default.
• W2014437315 date "2010-03-01" @default.
• W2014437315 modified "2023-10-03" @default.
• W2014437315 title "Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes" @default.
• W2014437315 cites W1566424010 @default.
• W2014437315 cites W1578646984 @default.
• W2014437315 cites W1967307863 @default.
• W2014437315 cites W1968087628 @default.
• W2014437315 cites W1968573084 @default.
• W2014437315 cites W1971205699 @default.
• W2014437315 cites W1971361786 @default.
• W2014437315 cites W1971509329 @default.
• W2014437315 cites W1976543350 @default.
• W2014437315 cites W1977164658 @default.
• W2014437315 cites W1986924239 @default.
• W2014437315 cites W1988371580 @default.
• W2014437315 cites W1988638589 @default.
• W2014437315 cites W1990826363 @default.
• W2014437315 cites W1993058934 @default.
• W2014437315 cites W1999519944 @default.
• W2014437315 cites W2001854167 @default.
• W2014437315 cites W2013498101 @default.
• W2014437315 cites W2014534727 @default.
• W2014437315 cites W2020197619 @default.
• W2014437315 cites W2031482412 @default.
• W2014437315 cites W2033638182 @default.
• W2014437315 cites W2036197115 @default.
• W2014437315 cites W2038501994 @default.
• W2014437315 cites W2039183090 @default.
• W2014437315 cites W2039499622 @default.
• W2014437315 cites W2054080390 @default.
• W2014437315 cites W2054951076 @default.
• W2014437315 cites W2055573605 @default.
• W2014437315 cites W2057753811 @default.
• W2014437315 cites W2060971177 @default.
• W2014437315 cites W2062657671 @default.
• W2014437315 cites W2065899830 @default.
• W2014437315 cites W2066563455 @default.
• W2014437315 cites W2071847472 @default.
• W2014437315 cites W2080878855 @default.
• W2014437315 cites W2087939675 @default.
• W2014437315 cites W2094215765 @default.
• W2014437315 cites W2094918510 @default.
• W2014437315 cites W2095808881 @default.
• W2014437315 cites W2097330821 @default.
• W2014437315 cites W2109945210 @default.
• W2014437315 cites W2118929226 @default.
• W2014437315 cites W2119128125 @default.
• W2014437315 cites W2119946903 @default.
• W2014437315 cites W2122118417 @default.
• W2014437315 cites W2125963513 @default.
• W2014437315 cites W2138717728 @default.
• W2014437315 cites W2139694871 @default.
• W2014437315 cites W2156343652 @default.
• W2014437315 cites W2165345168 @default.
• W2014437315 cites W2172234780 @default.
• W2014437315 cites W4251003523 @default.
• W2014437315 doi "https://doi.org/10.1111/j.1365-2788.2010.01251.x" @default.
• W2014437315 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20136683" @default.
• W2014437315 hasPublicationYear "2010" @default.
• W2014437315 type Work @default.
• W2014437315 sameAs 2014437315 @default.
• W2014437315 citedByCount "66" @default.
• W2014437315 countsByYear W20144373152012 @default.
• W2014437315 countsByYear W20144373152013 @default.
• W2014437315 countsByYear W20144373152014 @default.
• W2014437315 countsByYear W20144373152015 @default.
• W2014437315 countsByYear W20144373152016 @default.
• W2014437315 countsByYear W20144373152017 @default.
• W2014437315 countsByYear W20144373152018 @default.
• W2014437315 countsByYear W20144373152019 @default.
• W2014437315 countsByYear W20144373152020 @default.
• W2014437315 countsByYear W20144373152021 @default.
• W2014437315 countsByYear W20144373152022 @default.
• W2014437315 countsByYear W20144373152023 @default.
• W2014437315 crossrefType "journal-article" @default.
• W2014437315 hasAuthorship W2014437315A5008692206 @default.
• W2014437315 hasAuthorship W2014437315A5012797158 @default.
• W2014437315 hasAuthorship W2014437315A5016557508 @default.
• W2014437315 hasAuthorship W2014437315A5027868620 @default.
• W2014437315 hasAuthorship W2014437315A5030475224 @default.
• W2014437315 hasAuthorship W2014437315A5053616336 @default.
• W2014437315 hasAuthorship W2014437315A5064528607 @default.
• W2014437315 hasAuthorship W2014437315A5065483124 @default.
• W2014437315 hasAuthorship W2014437315A5079364715 @default.
• W2014437315 hasConcept C118552586 @default.
• W2014437315 hasConcept C126322002 @default.
• W2014437315 hasConcept C138496976 @default.

• next