Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum
Agenesis of the Corpus Callosum (ACC) can result in multiple neurological deficits including social and behavioural issues. However, the underlying aetiology, clinical co-morbidity and the contributing risk factors remain elusive, resulting in inaccurate prognosis and delayed therapy. The main objec...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-05-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/11/3623 |
| _version_ | 1797597360088416256 |
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| author | Callum J. Smith Zoey G. Smith Hania Rasool Katie Cullen Meghana Ghosh Thomas E. Woolley Orhan Uzun Ne Ron Loh David Tucker Yasir Ahmed Syed |
| author_facet | Callum J. Smith Zoey G. Smith Hania Rasool Katie Cullen Meghana Ghosh Thomas E. Woolley Orhan Uzun Ne Ron Loh David Tucker Yasir Ahmed Syed |
| author_sort | Callum J. Smith |
| collection | DOAJ |
| description | Agenesis of the Corpus Callosum (ACC) can result in multiple neurological deficits including social and behavioural issues. However, the underlying aetiology, clinical co-morbidity and the contributing risk factors remain elusive, resulting in inaccurate prognosis and delayed therapy. The main objective of this study was to comprehensively describe the epidemiology and clinical co-morbidity associated with patients diagnosed with ACC. The secondary objective was to identify the factors that contribute towards increased risk for ACC. For this, we analysed 22 years (1998–2020) of clinical data across the whole of Wales, UK collected through the Congenital Anomaly Register & Information Service (CARIS) and Public Health Wales (PHW). Our results demonstrate that complete ACC (84.1%) was the prevalent subtype, in comparison to partial ACC. Further, ventriculomegaly/hydrocephalus (26.37%) and ventricular septal defect (21.92%) were identified to be the most prevalent neural malformation (NM) and congenital heart disorder (CHD) in our cohort. Although 12.7% of subjects with ACC had both an NM and CHD, we found no significant association between them (<i>χ</i><sup>2</sup> (1, <i>n</i> = 220) = 3.84, <i>p</i> = 0.33). We found socioeconomic deprivation and increased maternal age contributed towards an increased risk for ACC. To the best of our knowledge, this study for the first time defines the clinical phenotypes and the factors that contribute to ACC within the Welsh population. These findings will be of value to both patients and healthcare professionals, who may take preventative or remedial measures. |
| first_indexed | 2024-03-11T03:05:08Z |
| format | Article |
| id | doaj.art-e5a068c807464a4ba491855988dcac82 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T03:05:08Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-e5a068c807464a4ba491855988dcac822023-11-18T08:04:09ZengMDPI AGJournal of Clinical Medicine2077-03832023-05-011211362310.3390/jcm12113623Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus CallosumCallum J. Smith0Zoey G. Smith1Hania Rasool2Katie Cullen3Meghana Ghosh4Thomas E. Woolley5Orhan Uzun6Ne Ron Loh7David Tucker8Yasir Ahmed Syed9Neuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKNeuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKNeuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKNeuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKNeuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKSchool of Mathematics, Cardiff University, Cardiff CF24 4AG, UKSchool of Mathematics, Cardiff University, Cardiff CF24 4AG, UKUniversity Hospital of Wales, Heath Park, Cardiff CF10 3AX, UKKnowledge Directorate, Public Health Wales, Swansea SA2 8QA, UKNeuroscience and Mental Health Innovation Institute, Hadyn Ellis Building, Cardiff CF24 4HQ, UKAgenesis of the Corpus Callosum (ACC) can result in multiple neurological deficits including social and behavioural issues. However, the underlying aetiology, clinical co-morbidity and the contributing risk factors remain elusive, resulting in inaccurate prognosis and delayed therapy. The main objective of this study was to comprehensively describe the epidemiology and clinical co-morbidity associated with patients diagnosed with ACC. The secondary objective was to identify the factors that contribute towards increased risk for ACC. For this, we analysed 22 years (1998–2020) of clinical data across the whole of Wales, UK collected through the Congenital Anomaly Register & Information Service (CARIS) and Public Health Wales (PHW). Our results demonstrate that complete ACC (84.1%) was the prevalent subtype, in comparison to partial ACC. Further, ventriculomegaly/hydrocephalus (26.37%) and ventricular septal defect (21.92%) were identified to be the most prevalent neural malformation (NM) and congenital heart disorder (CHD) in our cohort. Although 12.7% of subjects with ACC had both an NM and CHD, we found no significant association between them (<i>χ</i><sup>2</sup> (1, <i>n</i> = 220) = 3.84, <i>p</i> = 0.33). We found socioeconomic deprivation and increased maternal age contributed towards an increased risk for ACC. To the best of our knowledge, this study for the first time defines the clinical phenotypes and the factors that contribute to ACC within the Welsh population. These findings will be of value to both patients and healthcare professionals, who may take preventative or remedial measures.https://www.mdpi.com/2077-0383/12/11/3623agenesis of corpus callosumcongenital heart disordersneurodevelopmental disorderscomorbidityrisk factors |
| spellingShingle | Callum J. Smith Zoey G. Smith Hania Rasool Katie Cullen Meghana Ghosh Thomas E. Woolley Orhan Uzun Ne Ron Loh David Tucker Yasir Ahmed Syed Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum Journal of Clinical Medicine agenesis of corpus callosum congenital heart disorders neurodevelopmental disorders comorbidity risk factors |
| title | Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum |
| title_full | Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum |
| title_fullStr | Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum |
| title_full_unstemmed | Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum |
| title_short | Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum |
| title_sort | unravelling the clinical co morbidity and risk factors associated with agenesis of the corpus callosum |
| topic | agenesis of corpus callosum congenital heart disorders neurodevelopmental disorders comorbidity risk factors |
| url | https://www.mdpi.com/2077-0383/12/11/3623 |
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