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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Macdonald, Kelly T. Mosquera, Ricardo A. Yadav, Aravind Caldas-Vasquez, Maria C. Emanuel, Hina Rennie, Kimberly |
| Abstract | Background Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. CCHS is associated with compromised brain development and neurocognitive functioning. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. Moreover, the roles of pertinent medical variables such as genetic characteristics are also important to consider in the context of neurocognitive functioning. Methods Seven participants with CCHS ranging in age from 1 to 20 years underwent neuropsychological evaluations in a clinic setting. Results Neurocognitive testing indicated borderline impaired neurocognitive skills, on average, as well as relative weaknesses in working memory. Important strengths, including good coping skills and relatively strong social skills, may serve as protective factors in this population. Conclusion CCHS was associated with poor neurocognitive outcomes, especially with some polyalanine repeat expansion mutations (PARMS) genotype. These findings have important implications for individuals with CCHS as well as medical providers for this population. |
| Related Links | https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-020-2006-5.pdf |
| Ending Page | 8 |
| Page Count | 8 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712431 |
| DOI | 10.1186/s12887-020-2006-5 |
| Journal | BMC Pediatrics |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-05-06 |
| Access Restriction | Open |
| Subject Keyword | Pediatrics Internal Medicine CCHS Neurocognition PARMs |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pediatrics, Perinatology and Child Health |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.4/2023 |
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