Background: Down syndrome (DS) or trisomy 21 is a genetic disorder caused by unusual cell division and an extra copy of chromosome 21. DS is characterized by phenotypic characteristics identified clinically and is the most common genetic cause of intellectual disability in children. DS can also result in other medical complications that involve the heart, the digestive system and memory disabilities leading to Alzheimer’s disease (AD). Although diagnosis is made clinically, screening tests such as chorionic villus sampling (CVS), amniocentesis and ultrasound detecting translucency of the nuchal folds of the neck are used to detect it at its early stages. There is no known treatment for DS, however, early detection and intervention can improve quality of life (QoL) for patients and their parents. Aims: This review aims to identify the importance of neuroimaging, particularly magnetic resonance imaging (MRI), in early diagnosis of DS. The review will explore how neuroanatomical changes can guide future research and focus interventions to target needs of individuals. Method: This review included 12 studies on DS from the year 2000 to date. Participants included ranged from fetus to 15-year-old teenagers. Diagnosis of DS was first made by CVS, amniocentesis or ultrasound depending on mother’s preference followed by karyotyping confirming trisomy 21. The main imaging modality included in the review is high-resolution MRI which all participants underwent for comparison. Results: Results of the MRI showed an overall reduction in volume in different areas of the brain in DS patients compared to controls. Most prominent volume reduction were found in the frontal lobes, hippocampus and brainstem. With increasing age there was preservation of volumes in parietal and temporal lobes. After the age of 11 years, changes in the grey and white matters started to appear. Conclusion: Early detection of brain changes, especially in fetus, could improve developmental outcomes for people suffering from DS by providing early and tailored interventions focusing on potential cognitive impairments associated to damaged brain areas. These neuroanatomical changes in DS patients are correlated to cognitive disabilities that are controlled by specific areas of the brain, relating this review to its clinical relevance. Some limitations of the studies included in the review was the small sample size. Selection bias was introduced by recruiting participants solely from hospitals where healthcare access might be limited to those can afford it. Some strengths include the consistency in diagnosing DS first with chorionic villus sampling, amniocentesis and ultrasound and confirmation it with karyotyping.
| Published in | American Journal of Pediatrics (Volume 11, Issue 2) |
| DOI | 10.11648/j.ajp.20251102.18 |
| Page(s) | 81-92 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2025. Published by Science Publishing Group |
Down Syndrome, Trisomy 21, Developing Fetus, Childhood, Magnetic Resonance Imaging, MRI, Cognitive Disabilities
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APA Style
Halaweh, R. N. (2025). Magnetic Resonance Imaging in the Detection of Neuroanatomical Changes in Down Syndrome: A Narrative Review from the Developing Fetus to Childhood. American Journal of Pediatrics, 11(2), 81-92. https://doi.org/10.11648/j.ajp.20251102.18
ACS Style
Halaweh, R. N. Magnetic Resonance Imaging in the Detection of Neuroanatomical Changes in Down Syndrome: A Narrative Review from the Developing Fetus to Childhood. Am. J. Pediatr. 2025, 11(2), 81-92. doi: 10.11648/j.ajp.20251102.18
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Download@article{10.11648/j.ajp.20251102.18,
author = {Raneem Nabil Halaweh},
title = {Magnetic Resonance Imaging in the Detection of Neuroanatomical Changes in Down Syndrome: A Narrative Review from the Developing Fetus to Childhood
},
journal = {American Journal of Pediatrics},
volume = {11},
number = {2},
pages = {81-92},
doi = {10.11648/j.ajp.20251102.18},
url = {https://doi.org/10.11648/j.ajp.20251102.18},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20251102.18},
abstract = {Background: Down syndrome (DS) or trisomy 21 is a genetic disorder caused by unusual cell division and an extra copy of chromosome 21. DS is characterized by phenotypic characteristics identified clinically and is the most common genetic cause of intellectual disability in children. DS can also result in other medical complications that involve the heart, the digestive system and memory disabilities leading to Alzheimer’s disease (AD). Although diagnosis is made clinically, screening tests such as chorionic villus sampling (CVS), amniocentesis and ultrasound detecting translucency of the nuchal folds of the neck are used to detect it at its early stages. There is no known treatment for DS, however, early detection and intervention can improve quality of life (QoL) for patients and their parents. Aims: This review aims to identify the importance of neuroimaging, particularly magnetic resonance imaging (MRI), in early diagnosis of DS. The review will explore how neuroanatomical changes can guide future research and focus interventions to target needs of individuals. Method: This review included 12 studies on DS from the year 2000 to date. Participants included ranged from fetus to 15-year-old teenagers. Diagnosis of DS was first made by CVS, amniocentesis or ultrasound depending on mother’s preference followed by karyotyping confirming trisomy 21. The main imaging modality included in the review is high-resolution MRI which all participants underwent for comparison. Results: Results of the MRI showed an overall reduction in volume in different areas of the brain in DS patients compared to controls. Most prominent volume reduction were found in the frontal lobes, hippocampus and brainstem. With increasing age there was preservation of volumes in parietal and temporal lobes. After the age of 11 years, changes in the grey and white matters started to appear. Conclusion: Early detection of brain changes, especially in fetus, could improve developmental outcomes for people suffering from DS by providing early and tailored interventions focusing on potential cognitive impairments associated to damaged brain areas. These neuroanatomical changes in DS patients are correlated to cognitive disabilities that are controlled by specific areas of the brain, relating this review to its clinical relevance. Some limitations of the studies included in the review was the small sample size. Selection bias was introduced by recruiting participants solely from hospitals where healthcare access might be limited to those can afford it. Some strengths include the consistency in diagnosing DS first with chorionic villus sampling, amniocentesis and ultrasound and confirmation it with karyotyping.
},
year = {2025}
}
TY - JOUR T1 - Magnetic Resonance Imaging in the Detection of Neuroanatomical Changes in Down Syndrome: A Narrative Review from the Developing Fetus to Childhood AU - Raneem Nabil Halaweh Y1 - 2025/05/19 PY - 2025 N1 - https://doi.org/10.11648/j.ajp.20251102.18 DO - 10.11648/j.ajp.20251102.18 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 81 EP - 92 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20251102.18 AB - Background: Down syndrome (DS) or trisomy 21 is a genetic disorder caused by unusual cell division and an extra copy of chromosome 21. DS is characterized by phenotypic characteristics identified clinically and is the most common genetic cause of intellectual disability in children. DS can also result in other medical complications that involve the heart, the digestive system and memory disabilities leading to Alzheimer’s disease (AD). Although diagnosis is made clinically, screening tests such as chorionic villus sampling (CVS), amniocentesis and ultrasound detecting translucency of the nuchal folds of the neck are used to detect it at its early stages. There is no known treatment for DS, however, early detection and intervention can improve quality of life (QoL) for patients and their parents. Aims: This review aims to identify the importance of neuroimaging, particularly magnetic resonance imaging (MRI), in early diagnosis of DS. The review will explore how neuroanatomical changes can guide future research and focus interventions to target needs of individuals. Method: This review included 12 studies on DS from the year 2000 to date. Participants included ranged from fetus to 15-year-old teenagers. Diagnosis of DS was first made by CVS, amniocentesis or ultrasound depending on mother’s preference followed by karyotyping confirming trisomy 21. The main imaging modality included in the review is high-resolution MRI which all participants underwent for comparison. Results: Results of the MRI showed an overall reduction in volume in different areas of the brain in DS patients compared to controls. Most prominent volume reduction were found in the frontal lobes, hippocampus and brainstem. With increasing age there was preservation of volumes in parietal and temporal lobes. After the age of 11 years, changes in the grey and white matters started to appear. Conclusion: Early detection of brain changes, especially in fetus, could improve developmental outcomes for people suffering from DS by providing early and tailored interventions focusing on potential cognitive impairments associated to damaged brain areas. These neuroanatomical changes in DS patients are correlated to cognitive disabilities that are controlled by specific areas of the brain, relating this review to its clinical relevance. Some limitations of the studies included in the review was the small sample size. Selection bias was introduced by recruiting participants solely from hospitals where healthcare access might be limited to those can afford it. Some strengths include the consistency in diagnosing DS first with chorionic villus sampling, amniocentesis and ultrasound and confirmation it with karyotyping. VL - 11 IS - 2 ER -
Institute of Psychiatry, Psychology and Neuroscience, King’s College London, United Kingdom, London
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