{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/10376"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/10376","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype","abstract":"The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children.","abstract_html":"The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children.","abstract_has_math":false,"creators":["Donald, Kirsten Ann Mary"],"institution":"Department of Paediatrics and Child Health","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Wilmshurst, Jo","Thomas, Kevin"],"committee_chairs":[],"committee_members":[],"year":2008,"date_issued":"2008","date_published":"2008","updated_at":"2026-07-22T22:23:44Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/10376","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Wilmshurst, Jo","Thomas, Kevin"]},{"key":"dc:creator","label":"Author","values":["Donald, Kirsten Ann Mary"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2014-12-28T14:55:42Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2014-12-28T14:55:42Z"]},{"key":"dc:date.issued","label":"Date","values":["2008"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Paediatrics and Child Health"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Master Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["MPhil"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["eng"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/10376"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Includes bibliographical references (leaves 76-82)."]},{"key":"dc:description.abstract","label":"Abstract","values":["The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children."]},{"key":"dc:title","label":"Title","values":["Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype"]}]}],"canonical_facts":{"dc:contributor.advisor":["Wilmshurst, Jo","Thomas, Kevin"],"dc:creator":["Donald, Kirsten Ann Mary"],"dc:date.accessioned":["2014-12-28T14:55:42Z"],"dc:date.available":["2014-12-28T14:55:42Z"],"dc:date.issued":["2008"],"dc:description":["Includes bibliographical references (leaves 76-82)."],"dc:description.abstract":["The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-average to severe intellectual disability, they have consistently found the average full-scale IQ of affected boys to be reduced by approximately one standard deviation. Fewer reports are available for DMD boys in the pre-school age group. There is also limited data on the behavioural profile of boys with this condition. No material on these aspects of DMD in South African children has been published to date. This pilot case control study aimed to determine the neurocognitive and behavioural phenotype of a cohort of South African children with a confirmed diagnosis of Duchenne muscular dystrophy as compared to the profile of a matched control cohort of children."],"dc:identifier.uri":["http://hdl.handle.net/11427/10376"],"dc:language.iso":["eng"],"dc:publisher.department":["Department of Paediatrics and Child Health"],"dc:publisher.institution":["University of Cape Town"],"dc:title":["Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype"],"dc:type":["Master Thesis"],"dc:type.qualificationlevel":["Masters"],"dc:type.qualificationname":["MPhil"]},"updated_at":"2026-07-22T22:23:44Z"}