GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS)...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423008269 |
| _version_ | 1797341912740397056 |
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| author | Florent Colin Pauline Burger Timothée Mazzucotelli Axelle Strehle Joost Kummeling Nicole Collot Elyette Broly Angela T. Morgan Kenneth A. Myers Agnès Bloch-Zupan Charlotte W. Ockeloen Bert B.A. de Vries Tjitske Kleefstra Pierre Parrend David A. Koolen Jean-Louis Mandel |
| author_facet | Florent Colin Pauline Burger Timothée Mazzucotelli Axelle Strehle Joost Kummeling Nicole Collot Elyette Broly Angela T. Morgan Kenneth A. Myers Agnès Bloch-Zupan Charlotte W. Ockeloen Bert B.A. de Vries Tjitske Kleefstra Pierre Parrend David A. Koolen Jean-Louis Mandel |
| author_sort | Florent Colin |
| collection | DOAJ |
| description | Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs). Methods: Recruitment was done on the GenIDA website from November 2016 to February 2022. Clinical information on individuals with KdVS was extracted for in-depth analysis and for comparison with the GenIDA data of individuals diagnosed with other NDDs. Results: A total of 1417 patients/caregivers across 35 genetic conditions answered to the GenIDA questionnaire, including caregivers of 237 individuals with KdVS. GenIDA findings on KdVS were consistent with the existing literature, and there were no significant differences between individuals with a 17q21.31 microdeletion and those with a pathogenic variant in the KANSL1 gene. GenIDA provided detailed clinical information including features that are over-represented in KdVS compared with other NDDs (eg, laryngomalacia). Modeling of the natural history showed a positive development of speech and language over time and relatively good reading ability in KdVS. Valproate and oxcarbazepine were reported as effective antiepileptic drugs, and responses to open-ended questions indicated that childhood recurrent pneumonia and asthma are clinically relevant comorbidities that were not described in KdVS before. Conclusion: GenIDA is a powerful registry to collect and harness valuable data on rare NDDs. The study shows that caregiver-driven data collection is effective in terms of global recruitment and centralization of clinical data. |
| first_indexed | 2024-03-08T10:25:49Z |
| format | Article |
| id | doaj.art-993a3f37f3f24bdabf49664b01fbda88 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:25:49Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
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| series | Genetics in Medicine Open |
| spelling | doaj.art-993a3f37f3f24bdabf49664b01fbda882024-01-27T07:13:33ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100817GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndromeFlorent Colin0Pauline Burger1Timothée Mazzucotelli2Axelle Strehle3Joost Kummeling4Nicole Collot5Elyette Broly6Angela T. Morgan7Kenneth A. Myers8Agnès Bloch-Zupan9Charlotte W. Ockeloen10Bert B.A. de Vries11Tjitske Kleefstra12Pierre Parrend13David A. Koolen14Jean-Louis Mandel15Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France; INSERM UMR_S1109, Tumor Biomechanics Lab, University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, FranceInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France; Correspondence and requests for materials should be addressed to Pauline Burger, Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, INSERM U1258, CNRS UMR7104, 67400 Illkirch, FranceInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, FranceInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, FranceDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The NetherlandsInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, FranceInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France; Centre de référence des maladies rares orales et dentaires, O-Rares, Filière Santé Maladies rares Tête Cou, European Reference Network ERN CRANIO, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, FranceMurdoch Children’s Research Institute, Parkville, Australia; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Melbourne, AustraliaDepartment of Pediatrics, Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Montreal Children’s Hospital, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Centre, Montreal, Quebec, CanadaInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France; Centre de référence des maladies rares orales et dentaires, O-Rares, Filière Santé Maladies rares Tête Cou, European Reference Network ERN CRANIO, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, FranceDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The NetherlandsDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The NetherlandsDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands; Department Clinical Genetics, Erasmus MC Rotterdam, The NetherlandsICube laboratory (Laboratoire des sciences de l’ingénieur, de l’informatique et de l’imagerie), UMR 7357, Université de Strasbourg, CNRS, Strasbourg, France; EPITA, Strasbourg, FranceDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands; David A. Koolen, Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The NetherlandsInstitute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France; University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France; Jean-Louis Mandel, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, FrancePurpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs). Methods: Recruitment was done on the GenIDA website from November 2016 to February 2022. Clinical information on individuals with KdVS was extracted for in-depth analysis and for comparison with the GenIDA data of individuals diagnosed with other NDDs. Results: A total of 1417 patients/caregivers across 35 genetic conditions answered to the GenIDA questionnaire, including caregivers of 237 individuals with KdVS. GenIDA findings on KdVS were consistent with the existing literature, and there were no significant differences between individuals with a 17q21.31 microdeletion and those with a pathogenic variant in the KANSL1 gene. GenIDA provided detailed clinical information including features that are over-represented in KdVS compared with other NDDs (eg, laryngomalacia). Modeling of the natural history showed a positive development of speech and language over time and relatively good reading ability in KdVS. Valproate and oxcarbazepine were reported as effective antiepileptic drugs, and responses to open-ended questions indicated that childhood recurrent pneumonia and asthma are clinically relevant comorbidities that were not described in KdVS before. Conclusion: GenIDA is a powerful registry to collect and harness valuable data on rare NDDs. The study shows that caregiver-driven data collection is effective in terms of global recruitment and centralization of clinical data.http://www.sciencedirect.com/science/article/pii/S2949774423008269GenIDAIntellectual disabilityKoolen-de Vries syndromeNeurodevelopmental disordersPatient registry |
| spellingShingle | Florent Colin Pauline Burger Timothée Mazzucotelli Axelle Strehle Joost Kummeling Nicole Collot Elyette Broly Angela T. Morgan Kenneth A. Myers Agnès Bloch-Zupan Charlotte W. Ockeloen Bert B.A. de Vries Tjitske Kleefstra Pierre Parrend David A. Koolen Jean-Louis Mandel GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome Genetics in Medicine Open GenIDA Intellectual disability Koolen-de Vries syndrome Neurodevelopmental disorders Patient registry |
| title | GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome |
| title_full | GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome |
| title_fullStr | GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome |
| title_full_unstemmed | GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome |
| title_short | GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome |
| title_sort | genida a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with koolen de vries syndrome |
| topic | GenIDA Intellectual disability Koolen-de Vries syndrome Neurodevelopmental disorders Patient registry |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423008269 |
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