Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders
Abstract Objective Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders. Methods We enrolled participants with CP and “CP masquera...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-02-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51942 |
| _version_ | 1797311696208920576 |
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| author | Alexandra Santana Almansa Dustin L. Gable Zoë Frazier Abigail Sveden Aisling Quinlan Maya Chopra Sara A. Lewis Michael Kruer Annapurna Poduri Siddharth Srivastava |
| author_facet | Alexandra Santana Almansa Dustin L. Gable Zoë Frazier Abigail Sveden Aisling Quinlan Maya Chopra Sara A. Lewis Michael Kruer Annapurna Poduri Siddharth Srivastava |
| author_sort | Alexandra Santana Almansa |
| collection | DOAJ |
| description | Abstract Objective Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders. Methods We enrolled participants with CP and “CP masquerading” conditions in an institutional ES initiative. In those with genetic diagnoses who had clinical visits to discuss results, we retrospectively reviewed medical charts, evaluating recommendations based on the genetic diagnosis pertaining to medication intervention, surveillance initiation, variant‐specific testing, and patient education. Results We included 30 individuals with a molecular diagnosis and clinical follow‐up. Nearly all (28 out of 30) had clinical impact resulting from the genetic diagnosis. Medication interventions included recommendation of mitochondrial multivitamin supplementation (6.67%, n = 2), ketogenic diet (3.33%, n = 1), and fasting avoidance (3.33%, n = 1). Surveillance‐related actions included recommendations for investigating systemic complications (40%, n = 12); referral to new specialists to screen for systemic manifestations (33%, n = 10); continued follow‐up with established specialists to focus on specific manifestations (16.67%, n = 5); referral to clinical genetics (16.67%, n = 5) to oversee surveillance recommendations. Variant‐specific actions included carrier testing (10%, n = 3) and testing of potentially affected relatives (3.33%, n = 1). Patient education‐specific actions included referral to experts in the genetic disorder (30%, n = 9); and counseling about possible changes in prognosis, including recognition of disease progression and early mortality (36.67%, n = 11). Interpretation This study highlights the clinical utility of a genetic diagnosis for CP and “CP masquerading” conditions, evident by medication interventions, surveillance impact, family member testing, and patient education, including possible prognostic changes. |
| first_indexed | 2024-03-08T02:04:29Z |
| format | Article |
| id | doaj.art-178ffed6ae024256808885642165fd18 |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-03-08T02:04:29Z |
| publishDate | 2024-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-178ffed6ae024256808885642165fd182024-02-13T18:30:43ZengWileyAnnals of Clinical and Translational Neurology2328-95032024-02-0111225126210.1002/acn3.51942Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disordersAlexandra Santana Almansa0Dustin L. Gable1Zoë Frazier2Abigail Sveden3Aisling Quinlan4Maya Chopra5Sara A. Lewis6Michael Kruer7Annapurna Poduri8Siddharth Srivastava9Child Neurology Residency Training Program Boston Children's Hospital Boston Massachusetts USAChild Neurology Residency Training Program Boston Children's Hospital Boston Massachusetts USARosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children's Hospital Boston Massachusetts USARosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children's Hospital Boston Massachusetts USARosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children's Hospital Boston Massachusetts USARosamund Stone Zander Translational Neuroscience Center, Department of Neurology Boston Children's Hospital Boston Massachusetts USADepartment of Neurology and Pediatrics Phoenix Children's Hospital Phoenix Arizona USADepartment of Neurology and Pediatrics Phoenix Children's Hospital Phoenix Arizona USADepartment of Neurology Boston Children's Hospital Boston Massachusetts USADepartment of Neurology Boston Children's Hospital Boston Massachusetts USAAbstract Objective Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders. Methods We enrolled participants with CP and “CP masquerading” conditions in an institutional ES initiative. In those with genetic diagnoses who had clinical visits to discuss results, we retrospectively reviewed medical charts, evaluating recommendations based on the genetic diagnosis pertaining to medication intervention, surveillance initiation, variant‐specific testing, and patient education. Results We included 30 individuals with a molecular diagnosis and clinical follow‐up. Nearly all (28 out of 30) had clinical impact resulting from the genetic diagnosis. Medication interventions included recommendation of mitochondrial multivitamin supplementation (6.67%, n = 2), ketogenic diet (3.33%, n = 1), and fasting avoidance (3.33%, n = 1). Surveillance‐related actions included recommendations for investigating systemic complications (40%, n = 12); referral to new specialists to screen for systemic manifestations (33%, n = 10); continued follow‐up with established specialists to focus on specific manifestations (16.67%, n = 5); referral to clinical genetics (16.67%, n = 5) to oversee surveillance recommendations. Variant‐specific actions included carrier testing (10%, n = 3) and testing of potentially affected relatives (3.33%, n = 1). Patient education‐specific actions included referral to experts in the genetic disorder (30%, n = 9); and counseling about possible changes in prognosis, including recognition of disease progression and early mortality (36.67%, n = 11). Interpretation This study highlights the clinical utility of a genetic diagnosis for CP and “CP masquerading” conditions, evident by medication interventions, surveillance impact, family member testing, and patient education, including possible prognostic changes.https://doi.org/10.1002/acn3.51942 |
| spellingShingle | Alexandra Santana Almansa Dustin L. Gable Zoë Frazier Abigail Sveden Aisling Quinlan Maya Chopra Sara A. Lewis Michael Kruer Annapurna Poduri Siddharth Srivastava Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders Annals of Clinical and Translational Neurology |
| title | Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| title_full | Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| title_fullStr | Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| title_full_unstemmed | Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| title_short | Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| title_sort | clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders |
| url | https://doi.org/10.1002/acn3.51942 |
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