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Published in: European Radiology 7/2017

01-07-2017 | Magnetic Resonance

Structural brain alterations of Down’s syndrome in early childhood evaluation by DTI and volumetric analyses

Authors: Hediye Pınar Gunbey, Meltem Ceyhan Bilgici, Kerim Aslan, Arzu Ceylan Has, Methiye Gonul Ogur, Aslıhan Alhan, Lutfi Incesu

Published in: European Radiology | Issue 7/2017

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Abstract

Objectives

To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children with Down’s syndrome (DS).

Methods

Ten children with DS and eight healthy control subjects were included in the study. Tract-based spatial statistics (TBSS) were used in the DTI study for whole-brain voxelwise analysis of fractional anisotropy (FA) and mean diffusivity (MD) of WM. Volumetric analyses were performed with an automated segmentation method to obtain regional measurements of cortical volumes.

Results

Children with DS showed significantly reduced FA in association tracts of the fronto-temporo-occipital regions as well as the corpus callosum (CC) and anterior limb of the internal capsule (p < 0.05). Volumetric reductions included total cortical GM, cerebellar GM and WM volume, basal ganglia, thalamus, brainstem and CC in DS compared with controls (p < 0.05).

Conclusion

These preliminary results suggest that DTI and volumetric analyses may reflect the earliest complementary changes of the neurodevelopmental delay in children with DS and can serve as surrogate biomarkers of the specific elements of WM and GM integrity for cognitive development.

Key Points

DS is the most common genetic cause of intellectual disability.
WM and GM structural alterations represent the neurological features of DS.
DTI may identify the earliest aging process changes.
DTI-volumetric analyses can serve as surrogate biomarkers of neurodevelopment in DS.
Literature
1.
go back to reference Parker SE et al (2010) Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res Part A: Clin Mol Teratol 88:1008–1016CrossRef Parker SE et al (2010) Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res Part A: Clin Mol Teratol 88:1008–1016CrossRef
3.
go back to reference Silverman W (2007) Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 13:228–236CrossRefPubMed Silverman W (2007) Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 13:228–236CrossRefPubMed
4.
go back to reference Jarrold C, Baddeley AD, Hewes AK (2000) Verbal short‐term memory deficits in Down syndrome: a consequence of problems in rehearsal? J Child Psychol Psychiatry 41:233–244CrossRefPubMed Jarrold C, Baddeley AD, Hewes AK (2000) Verbal short‐term memory deficits in Down syndrome: a consequence of problems in rehearsal? J Child Psychol Psychiatry 41:233–244CrossRefPubMed
5.
go back to reference Dodd B (1975) Recognition and reproduction of words by down’s syndrome and non-down’s syndrome retarded children. Am J Ment Defic 80:306–311 Dodd B (1975) Recognition and reproduction of words by down’s syndrome and non-down’s syndrome retarded children. Am J Ment Defic 80:306–311
6.
go back to reference Fowler A, Gelman R, Gleitman LR (1994) The course of language learning in children with Down syndrome. In: Tager-Flusberg H (ed) Constraints on language acquisition studies of atypical children. NJ Lawrence Erlbaum Associates, Hillsdale Fowler A, Gelman R, Gleitman LR (1994) The course of language learning in children with Down syndrome. In: Tager-Flusberg H (ed) Constraints on language acquisition studies of atypical children. NJ Lawrence Erlbaum Associates, Hillsdale
7.
go back to reference Baddeley A, Jarrold C (2007) Working memory and Down syndrome. J Intellect Disabil Res 51:925–931CrossRefPubMed Baddeley A, Jarrold C (2007) Working memory and Down syndrome. J Intellect Disabil Res 51:925–931CrossRefPubMed
8.
go back to reference Carr J (1970) Mental and motor development in young mongol children*. J Intellect Disabil Res 14:205–220CrossRef Carr J (1970) Mental and motor development in young mongol children*. J Intellect Disabil Res 14:205–220CrossRef
9.
go back to reference Engidawork E, Lubec G (2003) Molecular changes in fetal Down syndrome brain. J Neurochem 84:895–904CrossRefPubMed Engidawork E, Lubec G (2003) Molecular changes in fetal Down syndrome brain. J Neurochem 84:895–904CrossRefPubMed
10.
go back to reference Guihard-Costa A-M et al (2006) Biometry of face and brain in fetuses with trisomy 21. Pediatr Res 59:33–38CrossRefPubMed Guihard-Costa A-M et al (2006) Biometry of face and brain in fetuses with trisomy 21. Pediatr Res 59:33–38CrossRefPubMed
11.
go back to reference Jernigan TL, Bellugi U (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Arch Neurol 47:529–533CrossRefPubMed Jernigan TL, Bellugi U (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Arch Neurol 47:529–533CrossRefPubMed
12.
go back to reference Pinter J et al (2001) Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study. Neurology 56:972–974CrossRefPubMed Pinter J et al (2001) Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study. Neurology 56:972–974CrossRefPubMed
13.
go back to reference Kates WR et al (2002) Cerebral growth in fragile X syndrome: review and comparison with Down syndrome. Microsc Res Tech 57:159–167CrossRefPubMed Kates WR et al (2002) Cerebral growth in fragile X syndrome: review and comparison with Down syndrome. Microsc Res Tech 57:159–167CrossRefPubMed
14.
go back to reference Śmigielska-Kuzia J et al (2011) A volumetric magnetic resonance imaging study of brain structures in children with down syndrome. Neurol Neurochir Pol 45:363–369PubMed Śmigielska-Kuzia J et al (2011) A volumetric magnetic resonance imaging study of brain structures in children with down syndrome. Neurol Neurochir Pol 45:363–369PubMed
15.
go back to reference Onorati P et al (2013) Whole-brain voxel-based morphometry study of children and adolescents with down syndrome. Funct Neurol 28:19PubMedPubMedCentral Onorati P et al (2013) Whole-brain voxel-based morphometry study of children and adolescents with down syndrome. Funct Neurol 28:19PubMedPubMedCentral
16.
go back to reference Condoluci C, Onorati P, Albertini G (2009) Gait analysis and cerebral volumes in down’s syndrome. Funct Neurol 24:147PubMed Condoluci C, Onorati P, Albertini G (2009) Gait analysis and cerebral volumes in down’s syndrome. Funct Neurol 24:147PubMed
17.
go back to reference Menghini D, Costanzo F, Vicari S (2011) Relationship between brain and cognitive processes in down syndrome. Behav Genet 41:381–393CrossRefPubMed Menghini D, Costanzo F, Vicari S (2011) Relationship between brain and cognitive processes in down syndrome. Behav Genet 41:381–393CrossRefPubMed
18.
go back to reference Lee NR, Adeyemi EI, Lin A et al (2015) Dissociations in cortical morphometry in youth with down syndrome: evidence for reduced surface area but increased thickness. Cereb Cortex 26:2982–2990 Lee NR, Adeyemi EI, Lin A et al (2015) Dissociations in cortical morphometry in youth with down syndrome: evidence for reduced surface area but increased thickness. Cereb Cortex 26:2982–2990
19.
go back to reference Adeyemi EI, Giedd JN, Lee NR (2015) A case study of brain morphometry in triplets discordant for down syndrome. Am J Med Genet A 167:1107–1110CrossRef Adeyemi EI, Giedd JN, Lee NR (2015) A case study of brain morphometry in triplets discordant for down syndrome. Am J Med Genet A 167:1107–1110CrossRef
21.
go back to reference Nelson L et al (2005) Learning and memory as a function of age in down syndrome: a study using animal-based tasks. Prog Neuro-Psychopharmacol Biol Psychiatry 29:443–453CrossRef Nelson L et al (2005) Learning and memory as a function of age in down syndrome: a study using animal-based tasks. Prog Neuro-Psychopharmacol Biol Psychiatry 29:443–453CrossRef
22.
go back to reference Lott IT, Dierssen M (2010) Cognitive deficits and associated neurological complications in individuals with down’s syndrome. Lancet Neurol 9:623–633CrossRefPubMed Lott IT, Dierssen M (2010) Cognitive deficits and associated neurological complications in individuals with down’s syndrome. Lancet Neurol 9:623–633CrossRefPubMed
23.
go back to reference Basser PJ, Pierpaoli C (2011) Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. J Magn Reson 213:560–570CrossRefPubMed Basser PJ, Pierpaoli C (2011) Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. J Magn Reson 213:560–570CrossRefPubMed
25.
26.
go back to reference Fischl B et al (2004) Sequence-independent segmentation of magnetic resonance images. Neuroimage 23:S69–S84CrossRefPubMed Fischl B et al (2004) Sequence-independent segmentation of magnetic resonance images. Neuroimage 23:S69–S84CrossRefPubMed
27.
go back to reference Romano A et al (2015) Age effects on cortical thickness in young down’s syndrome subjects: a cross-sectional gender study. Neuroradiology 57:401–411CrossRefPubMed Romano A et al (2015) Age effects on cortical thickness in young down’s syndrome subjects: a cross-sectional gender study. Neuroradiology 57:401–411CrossRefPubMed
28.
go back to reference Esposito G et al (2008) Genomic and functional profiling of human down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury. Hum Mol Genet 17:440–457CrossRefPubMed Esposito G et al (2008) Genomic and functional profiling of human down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury. Hum Mol Genet 17:440–457CrossRefPubMed
29.
go back to reference Karlsen AS, Pakkenberg B (2011) Total numbers of neurons and glial cells in cortex and basal ganglia of aged brains with down syndrome—a stereological study. Cereb Cortex 21:2519–2524 Karlsen AS, Pakkenberg B (2011) Total numbers of neurons and glial cells in cortex and basal ganglia of aged brains with down syndrome—a stereological study. Cereb Cortex 21:2519–2524
30.
go back to reference Anderson JS et al (2013) Abnormal brain synchrony in down syndrome. NeuroImage: Clin 2:703–715CrossRef Anderson JS et al (2013) Abnormal brain synchrony in down syndrome. NeuroImage: Clin 2:703–715CrossRef
31.
go back to reference Teipel SJ et al (2003) Relation of corpus callosum and hippocampal size to age in nondemented adults with down’s syndrome. Am J Psychiatr 160:1870–1878 Teipel SJ et al (2003) Relation of corpus callosum and hippocampal size to age in nondemented adults with down’s syndrome. Am J Psychiatr 160:1870–1878
32.
go back to reference Jeringan T, Bellugi U, Sowell E (1993) Cerebral morphological distinctions between William's and down’s syndromes. Arch Neurol 50:186–191CrossRef Jeringan T, Bellugi U, Sowell E (1993) Cerebral morphological distinctions between William's and down’s syndromes. Arch Neurol 50:186–191CrossRef
33.
34.
go back to reference Chukwudelunzu F et al (2001) Extensive metabolic and neuropsychological abnormalities associated with discrete infarction of the genu of the internal capsule. J Neurol Neurosurg Psychiatry 71:658–662CrossRefPubMedPubMedCentral Chukwudelunzu F et al (2001) Extensive metabolic and neuropsychological abnormalities associated with discrete infarction of the genu of the internal capsule. J Neurol Neurosurg Psychiatry 71:658–662CrossRefPubMedPubMedCentral
35.
go back to reference Rosenberger G et al (2012) Anterior limb of the internal capsule in schizophrenia: a diffusion tensor tractography study. Brain Imaging Behav 6:417–425CrossRefPubMedPubMedCentral Rosenberger G et al (2012) Anterior limb of the internal capsule in schizophrenia: a diffusion tensor tractography study. Brain Imaging Behav 6:417–425CrossRefPubMedPubMedCentral
36.
go back to reference Shukla DK et al (2010) White matter compromise of callosal and subcortical fiber tracts in children with autism spectrum disorder: a diffusion tensor imaging study. Journal of the American Academy of Child & Adolescent Psychiatry 49:1269–1278, e2 Shukla DK et al (2010) White matter compromise of callosal and subcortical fiber tracts in children with autism spectrum disorder: a diffusion tensor imaging study. Journal of the American Academy of Child & Adolescent Psychiatry 49:1269–1278, e2
37.
go back to reference Guillery R, Sherman SM (2002) Thalamic relay functions and their role in corticocortical communication: generalizations from the visual system. Neuron 33:163–175CrossRefPubMed Guillery R, Sherman SM (2002) Thalamic relay functions and their role in corticocortical communication: generalizations from the visual system. Neuron 33:163–175CrossRefPubMed
38.
go back to reference Anderson JS et al (2015) Violence: heightened brain attentional network response is selectively muted in down syndrome. J Neurodev Disord 7:1CrossRef Anderson JS et al (2015) Violence: heightened brain attentional network response is selectively muted in down syndrome. J Neurodev Disord 7:1CrossRef
39.
go back to reference Carlesimo GA, Marotta L, Vicari S (1997) Long-term memory in mental retardation: evidence for a specific impairment in subjects with down's syndrome. Neuropsychologia 35:71–79CrossRefPubMed Carlesimo GA, Marotta L, Vicari S (1997) Long-term memory in mental retardation: evidence for a specific impairment in subjects with down's syndrome. Neuropsychologia 35:71–79CrossRefPubMed
40.
go back to reference Frenkel S, Bourdin B (2009) Verbal, visual, and spatio‐sequential short‐term memory: assessment of the storage capacities of children and teenagers with down's syndrome. J Intellect Disabil Res 53:152–160CrossRefPubMed Frenkel S, Bourdin B (2009) Verbal, visual, and spatio‐sequential short‐term memory: assessment of the storage capacities of children and teenagers with down's syndrome. J Intellect Disabil Res 53:152–160CrossRefPubMed
41.
go back to reference Vicari S, Bellucci S, Carlesimo GA (2006) Evidence from two genetic syndromes for the independence of spatial and visual working memory. Dev Med Child Neurol 48:126–131CrossRefPubMed Vicari S, Bellucci S, Carlesimo GA (2006) Evidence from two genetic syndromes for the independence of spatial and visual working memory. Dev Med Child Neurol 48:126–131CrossRefPubMed
42.
go back to reference Ortibus E et al (2012) Integrity of the inferior longitudinal fasciculus and impaired object recognition in children: a diffusion tensor imaging study. Dev Med Child Neurol 54:38–43CrossRefPubMed Ortibus E et al (2012) Integrity of the inferior longitudinal fasciculus and impaired object recognition in children: a diffusion tensor imaging study. Dev Med Child Neurol 54:38–43CrossRefPubMed
43.
go back to reference Bashat DB et al (2007) Accelerated maturation of white matter in young children with autism: a high b value DWI study. Neuroimage 37:40–47CrossRefPubMed Bashat DB et al (2007) Accelerated maturation of white matter in young children with autism: a high b value DWI study. Neuroimage 37:40–47CrossRefPubMed
44.
go back to reference Li Q et al (2010) Increased fractional anisotropy in white matter of the right frontal region in children with attention-deficit/hyperactivity disorder: a diffusion tensor imaging study. Neuroendocrinol Lett 31:747PubMed Li Q et al (2010) Increased fractional anisotropy in white matter of the right frontal region in children with attention-deficit/hyperactivity disorder: a diffusion tensor imaging study. Neuroendocrinol Lett 31:747PubMed
45.
go back to reference Engvig A et al (2012) Memory training impacts short‐term changes in aging white matter: a longitudinal diffusion tensor imaging study. Hum Brain Mapp 33:2390–2406CrossRefPubMed Engvig A et al (2012) Memory training impacts short‐term changes in aging white matter: a longitudinal diffusion tensor imaging study. Hum Brain Mapp 33:2390–2406CrossRefPubMed
46.
go back to reference Tavor I, Hofstetter S, Assaf Y (2013) Micro-structural assessment of short term plasticity dynamics. Neuroimage 81:1–7CrossRefPubMed Tavor I, Hofstetter S, Assaf Y (2013) Micro-structural assessment of short term plasticity dynamics. Neuroimage 81:1–7CrossRefPubMed
47.
go back to reference Chan KC et al (2011) In vivo manganese-enhanced MRI and diffusion tensor imaging of developing and impaired visual brains. In: 2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE. p. 7005-7008 Chan KC et al (2011) In vivo manganese-enhanced MRI and diffusion tensor imaging of developing and impaired visual brains. In: 2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE. p. 7005-7008
Metadata
Title
Structural brain alterations of Down’s syndrome in early childhood evaluation by DTI and volumetric analyses
Authors
Hediye Pınar Gunbey
Meltem Ceyhan Bilgici
Kerim Aslan
Arzu Ceylan Has
Methiye Gonul Ogur
Aslıhan Alhan
Lutfi Incesu
Publication date
01-07-2017
Publisher
Springer Berlin Heidelberg
Published in
European Radiology / Issue 7/2017
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI
https://doi.org/10.1007/s00330-016-4626-6

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