Quantitative brain morphological analysis in CHARGE syndrome
CHARGE syndrome (CS) is a rare congenital syndrome characterized by coloboma, heart anomaly, choanal atresia, retardation of growth and development, and genital and ear anomalies. While several neuroimaging studies have revealed abnormalities such as hypoplasia of the semicircular canal, olfactory n...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-01-01
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| Series: | NeuroImage: Clinical |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213158219302165 |
| _version_ | 1823925877849718784 |
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| author | Tadashi Shiohama Jeremy McDavid Jacob Levman Emi Takahashi |
| author_facet | Tadashi Shiohama Jeremy McDavid Jacob Levman Emi Takahashi |
| author_sort | Tadashi Shiohama |
| collection | DOAJ |
| description | CHARGE syndrome (CS) is a rare congenital syndrome characterized by coloboma, heart anomaly, choanal atresia, retardation of growth and development, and genital and ear anomalies. While several neuroimaging studies have revealed abnormalities such as hypoplasia of the semicircular canal, olfactory nerve, cerebellum, and brainstem, no quantitative analysis of brain morphology in CS has been reported. We quantitatively investigated brain morphology in CS participants using structural magnetic resonance imaging (MRI) (N = 10, mean age 14.7 years old) and high-angular resolution diffusion MRI (HARDI) tractography (N = 8, mean age 19.4 years old) comparing with gender- and age-matched controls. Voxel-based analyses revealed decreased volume of the bilateral globus pallidus (left and right; p = 0.021 and 0.029), bilateral putamen (p = 0.016 and 0.011), left subthalamic nucleus (p = 0.012), bilateral cerebellum (p = 1.5 × 10−6 and 1.2 × 10−6), and brainstem (p = 0.031), and the enlargement of the lateral ventricles (p = 0.011 and 0.0031) bilaterally in CS. Surface-based analysis revealed asymmetrically increased cortical thickness in the right hemisphere (p = 0.013). The group-wise differences observed in global cortical volume, gyrification index, and left cortical thickness were not statistically significant. HARDI tractography revealed reduced volume, elongation, and higher ADC values in multiple fiber tracts in patients in CS compared to the controls, but FA values were not statistically significantly different between the two groups. Facial features are known to be asymmetric in CS, which has been recognized as an important symptom in CS. Our results revealed that the cortex in CS has an asymmetric appearance similar to the facial features. In addition, the signal pattern of high ADC with statistically unchanged FA values of tractography pathways indicated the presence of other pathogenesis than vasogenic edema or myelination dysfunction in developmental delay in CS. Keywords: CHARGE syndrome, Structural brain MRI, HARDI |
| first_indexed | 2024-12-16T20:15:47Z |
| format | Article |
| id | doaj.art-ebbc206c65384d34995076eb232074a8 |
| institution | Directory Open Access Journal |
| issn | 2213-1582 |
| language | English |
| last_indexed | 2024-12-16T20:15:47Z |
| publishDate | 2019-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | NeuroImage: Clinical |
| spelling | doaj.art-ebbc206c65384d34995076eb232074a82022-12-21T22:17:58ZengElsevierNeuroImage: Clinical2213-15822019-01-0123Quantitative brain morphological analysis in CHARGE syndromeTadashi Shiohama0Jeremy McDavid1Jacob Levman2Emi Takahashi3Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA; Department of Pediatrics, Chiba University Hospital, Inohana 1-8-1, Chiba-shi, Chiba 2608670, Japan; Corresponding author at: Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USADivision of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA; Department of Mathematics, Statistics and Computer Science, St. Francis Xavier University, 2323 Notre Dame Ave, Antigonish, Nova Scotia B2G 2W5, CanadaDivision of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USACHARGE syndrome (CS) is a rare congenital syndrome characterized by coloboma, heart anomaly, choanal atresia, retardation of growth and development, and genital and ear anomalies. While several neuroimaging studies have revealed abnormalities such as hypoplasia of the semicircular canal, olfactory nerve, cerebellum, and brainstem, no quantitative analysis of brain morphology in CS has been reported. We quantitatively investigated brain morphology in CS participants using structural magnetic resonance imaging (MRI) (N = 10, mean age 14.7 years old) and high-angular resolution diffusion MRI (HARDI) tractography (N = 8, mean age 19.4 years old) comparing with gender- and age-matched controls. Voxel-based analyses revealed decreased volume of the bilateral globus pallidus (left and right; p = 0.021 and 0.029), bilateral putamen (p = 0.016 and 0.011), left subthalamic nucleus (p = 0.012), bilateral cerebellum (p = 1.5 × 10−6 and 1.2 × 10−6), and brainstem (p = 0.031), and the enlargement of the lateral ventricles (p = 0.011 and 0.0031) bilaterally in CS. Surface-based analysis revealed asymmetrically increased cortical thickness in the right hemisphere (p = 0.013). The group-wise differences observed in global cortical volume, gyrification index, and left cortical thickness were not statistically significant. HARDI tractography revealed reduced volume, elongation, and higher ADC values in multiple fiber tracts in patients in CS compared to the controls, but FA values were not statistically significantly different between the two groups. Facial features are known to be asymmetric in CS, which has been recognized as an important symptom in CS. Our results revealed that the cortex in CS has an asymmetric appearance similar to the facial features. In addition, the signal pattern of high ADC with statistically unchanged FA values of tractography pathways indicated the presence of other pathogenesis than vasogenic edema or myelination dysfunction in developmental delay in CS. Keywords: CHARGE syndrome, Structural brain MRI, HARDIhttp://www.sciencedirect.com/science/article/pii/S2213158219302165 |
| spellingShingle | Tadashi Shiohama Jeremy McDavid Jacob Levman Emi Takahashi Quantitative brain morphological analysis in CHARGE syndrome NeuroImage: Clinical |
| title | Quantitative brain morphological analysis in CHARGE syndrome |
| title_full | Quantitative brain morphological analysis in CHARGE syndrome |
| title_fullStr | Quantitative brain morphological analysis in CHARGE syndrome |
| title_full_unstemmed | Quantitative brain morphological analysis in CHARGE syndrome |
| title_short | Quantitative brain morphological analysis in CHARGE syndrome |
| title_sort | quantitative brain morphological analysis in charge syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2213158219302165 |
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