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Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa
Thesis (MPhil)--Stellenbosch University, 2023.
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| Format: | Thesis |
| Language: | en_ZA en_ZA |
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Stellenbosch : Stellenbosch University
2023
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| _version_ | 1867613890135719936 |
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| access_status_str | Open Access |
| author | Mohammed, Hiba Hamid Ahmed |
| author2 | Van Toorn, Ronald |
| author_browse | Mohammed, Hiba Hamid Ahmed Van Toorn, Ronald |
| author_facet | Van Toorn, Ronald Mohammed, Hiba Hamid Ahmed |
| author_sort | Mohammed, Hiba Hamid Ahmed |
| collection | Thesis |
| dc_rights_str_mv | Stellenbosch University |
| description | Thesis (MPhil)--Stellenbosch University, 2023. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/129000 |
| institution | Stellenbosch University (South Africa) |
| language | en_ZA en_ZA |
| last_indexed | 2026-06-10T12:43:19.203Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | Stellenbosch : Stellenbosch University |
| publisherStr | Stellenbosch : Stellenbosch University |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/129000 Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa Mohammed, Hiba Hamid Ahmed Van Toorn, Ronald Solomons, Regan Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health. Paediatric Neurology. Cerebral palsy Paediatrics High-throughput nucleotide sequencing Whole exome sequencing Diseases -- Causes and theories of causation Thesis (MPhil)--Stellenbosch University, 2023. ENGLISH ABSTRACT: Introduction: Cerebral palsy (CP) is the most common motor disability in childhood. Both genetic and environmental factors contribute to the aetiology of CP. Recent advances in molecular genetics such as next generation sequencing (NGS) and whole exome sequencing (WES) have revolutionized the understanding of aetiology by more precisely classifying these disorders with a molecular cause. This study aimed to determine the clinical utility of NGS/WES in children with cryptogenic CP. Methods: Data was collected from 218 consecutive children with CP aged 3.6-10.5 years, referred over an 18-month period, to the tertiary paediatric neurology service at Tygerberg Academic Hospital. Results: Cryptogenic CP cases accounted for 24.3% (53/218) of cases. NGS/WES was performed in 66% (35/53). Pathogenic/likely pathogenic variants were identified in 37.2% (13/35) within the following genes: ATP1A3, SCN2A, ATM, FOXG1, UBE3A, KCNA2, ADAR1, QDPR, GCDH, SAMHD1, PLP1 duplication and SLC16A2. Cryptogenic CP cases were more likely to exhibit dyskinetic (odds ratio (OR)= 2.86; P-value=0.01; 95% CI=1.34-6.11) or hypotonic (OR =24.96; P-value=0.01; 95% CI=2.99-208.05) phenotypes, and less likely present with seizures (OR=0.23, P-value=0.01; 95% CI=0.11-0.46). Conclusion: The high rate of detecting causative genetic variants in the study, 37.2%, suggests that NGS/WES should be considered as first-line investigations in children with cryptogenic CP, especially those with dyskinetic or hypotonic subtypes and normal or non-specific MRI findings. AFRIKAANSE OPSOMMING: Geen opsomming beskikbaar. Masters 2023-11-25T13:04:59Z 2024-01-08T18:45:58Z 2023-11-25T13:04:59Z 2024-01-08T18:45:58Z 2023-11 Thesis https://scholar.sun.ac.za/handle/10019.1/129000 en_ZA en_ZA Stellenbosch University v, 46 pages application/pdf Stellenbosch : Stellenbosch University |
| spellingShingle | Cerebral palsy Paediatrics High-throughput nucleotide sequencing Whole exome sequencing Diseases -- Causes and theories of causation Mohammed, Hiba Hamid Ahmed Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title | Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title_full | Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title_fullStr | Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title_full_unstemmed | Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title_short | Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa |
| title_sort | clinical utility of next generation sequencing in children with cryptogenic cerebral palsy a cohort study from a tertiary paediatric neurology clinic in the western cape province of south africa |
| topic | Cerebral palsy Paediatrics High-throughput nucleotide sequencing Whole exome sequencing Diseases -- Causes and theories of causation |
| url | https://scholar.sun.ac.za/handle/10019.1/129000 |
| work_keys_str_mv | AT mohammedhibahamidahmed clinicalutilityofnextgenerationsequencinginchildrenwithcryptogeniccerebralpalsyacohortstudyfromatertiarypaediatricneurologyclinicinthewesterncapeprovinceofsouthafrica |