Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort - 15/09/22
Abstract |
Objective |
To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients.
Study design |
Patients enrolled in the Center for Applied Genomics Biobank at the Children's Hospital of Philadelphia with neurodegenerative symptoms were identified using an algorithm that consisted of including and excluding selected International Classification of Diseases, 9th and 10th edition codes. A manual chart review was then performed to abstract detailed clinical information.
Results |
Of approximately 100 000 patients enrolled in the Center for Applied Genomics Biobank, 76 had a neurodegenerative phenotype. After chart review, 7 patients were excluded. Of the remaining 69 patients, 42 had a genetic diagnosis (60.9%) and 27 were undiagnosed (39.1%). There were 32 unique disorders. Common diagnoses included Rett syndrome, mitochondrial disorders, and neuronal ceroid lipofuscinoses.
Conclusions |
The disorders encountered in our cohort demonstrate the diverse diseases and pathophysiology that contribute to pediatric neurodegeneration. Establishing a diagnosis often informed clinical management, although curative treatment options are lacking. Many patients who underwent genetic evaluation remained undiagnosed, highlighting the importance of continued research efforts in this field.
Le texte complet de cet article est disponible en PDF.Keywords : regression, pediatric neurology, medical genetics, Rett syndrome, mitochondrial disease, neuroscience, biobanking
Abbreviations : CAG, ICD, NCL
Plan
| R.G. was supported by the National Institutes of Health under award number 5T32GM008638-24 during research reported in this publication. R.A.N. was supported by NINDS K08NS105865. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. All other authors declare no conflict of interest. |
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| Presented at the virtual American Society for Human Genetics meeting, October 23, 2021. |
Vol 248
P. 89-93 - septembre 2022 Retour au numéro
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