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Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The
Tadashi Shiohama1, Jacob Levman2, Nicole Baumer3
1Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Pediatrics, Chiba University Hospital, Chiba-shi, Chiba, Japan.
Insights
Infants and toddlers with Down syndrome show reduced cerebellar gray matter and brainstem volumes. These brain regions appear primarily affected by the extra chromosome 21, impacting early development.
Area of Science:
- Neuroimaging
- Genetics
- Developmental Biology
Background:
- Down syndrome (DS) is the most common chromosomal disorder, associated with intellectual disability and physical features.
- Medical comorbidities in DS can contribute to significant brain morphologic changes.
- Early identification of brain development in DS is crucial for understanding its impact.
Purpose of the Study:
- To evaluate brain morphologic characteristics in infants and toddlers with Down syndrome.
- To utilize structural brain magnetic resonance imaging for detailed analysis.
- To compare brain structures in DS patients with neurotypical controls.
Main Methods:
- Structural brain T1-weighted MRI scans from 20 DS participants (1.6 ± 0.6 years) with trisomy 21.
- Analysis using FreeSurfer, comparing measurements with 60 age- and gender-matched controls.
- Statistical analysis included Cohen's d, unpaired t-tests with FDR correction, and general linear models accounting for comorbidities.
Main Results:
- 27 candidate measurements showed significant differences (absolute d > 0.8, P < 6.9 × 10⁻³).
- Key findings include decreased bilateral cerebellar gray matter and right cerebellar white matter volumes.
- Brainstem and specific cortical regions (right superior temporal, anterior cingulate, rostral middle frontal gyrus) also showed abnormalities, with cerebellar and brainstem volumes differing in infancy.
Conclusions:
- Cerebellar gray matter and brainstem are primary regions affected by trisomy 21.
- These findings highlight early structural brain alterations in Down syndrome.
- The study provides insights into the neurodevelopmental trajectory in young children with DS.
Background:
Down syndrome (DS) is the most prevalent chromosomal disorder characterized by intellectual disability, multiple organ anomalies, generalized muscular hypotonia, and characteristic physical features. The presence of DS-associated medical comorbidities has contributed to brain morphologic changes. The aim of this study was to evaluate brain morphologic characteristics during infant and toddler ages in patients with DS using structural brain magnetic resonance imaging.
Methods:
Structural brain T1-weighted magnetic resonance images from participants with DS with complete chromosome 21 trisomy (n = 20; 1.6 ± 0.6 [mean ± standard deviation] years old) were analyzed using FreeSurfer. The measurements were compared with those of 60 gender- and age-matched neurotypical controls by Cohen's d statistic and unpaired t test with false discovery rate correction for multiple comparisons and analyzed using a univariate general linear model with the following DS-associated medical comorbidities: congenital cardiac disease, infantile spasms, and hypothyroidism.
Results:
We identified 27 candidate measurements with large effect sizes (absolute d > 0.8) and statistically significant differences (P < 6.9 × 10-3). Among them were decreased volumes in bilateral cerebellar gray matter and right cerebellar white matter and brainstem and cortical abnormalities in the right superior temporal, right rostral anterior cingulate, and left rostral middle frontal gyrus, independent of comorbid effects. Only bilateral cerebellar gray matter volumes and brainstem volume showed differences between DS and healthy groups during infancy.
Conclusion:
These results suggest that cerebellar gray matter and brainstem may represent the primary regions affected by the presence of an additional copy of chromosome 21.
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