Down Syndrome: Neurophysiological Concepts
DOI:
https://doi.org/10.5281/zenodo.13292884Keywords:
Down Syndrome, Coherence, intraoperative neurophysiological monitoring, neurophysiologyAbstract
Introduction.
Down syndrome arises from a trisomy of chromosome 21. Neurophysiological aspects of Down syndrome have not been well studied. Subjects often have delayed motor milestones, an increased risk of epilepsy, and an early onset form of Alzheimer’s disease.
Methods.
This report describes differences between Down syndrome individuals and neurologically normal control subjects using standard neurophysiological tests, such as motor and somatosensory evoked potentials and coherence between pairs of neurophysiological signals.
Results.
Subjects with Down Syndrome required a smaller voltage to elicit an equivalent motor evoked potential compared to control subjects (174V vs. 650V) and had larger cortical, but not spinal, somatosensory evoked potentials (52mV vs. 4.2mV). Both EEG-EEG and EMG-EMG coherence was higher in Down Syndrome than in control subjects.
Conclusions.
Because the sensory input to the nervous system is controlled between subjects, as evidenced by the consistent spinal amplitude, we believe that the increased amplitude results from supraspinal (thalamic or cortical) differences rather than spinal gating. We hypothesize that these findings represent a novel set of neurophysiological findings and may be due to an altered pattern of cortical excitability, possibly due to an increased presence of gap junctions in cortical cells.
References
Thirumala PD, Thiagarajan K, Gedela S, Crammond DJ, Balzer JR. Diagnostic accuracy of EEG changes during carotid Hayes A, Batshaw ML. Down syndrome. Pediatr Clin North Am. 1993 Jun;40(3):523-35.
Lagan N, Huggard D, Mc Grane F, Leahy TR, Franklin O, Roche E, et al. Multiorgan involvement and management in children with Down syndrome. Acta paediatrica (Oslo, Norway : 1992). 2020 Jan 3.
Arumugam A, Raja K, Venugopalan M, Chandrasekaran B, Kovanur Sampath K, Muthusamy H, et al. Down syndrome-A narrative review with a focus on anatomical features. Clin Anat. 2016 Jul;29(5):568-77.
Dierssen M. Down syndrome: the brain in trisomic mode. Nat Rev Neurosci. 2012 Dec;13(12):844-58.
Tapp S, Anderson T, Visootsak J. Neurodevelopmental outcomes in children with Down syndrome and infantile spasms. J Pediatr Neurol. 2015 Jun;13(2):74-7.
Abousamra O, Duque Orozco MDP, Er MS, Rogers KJ, Sees JP, Miller F. Scoliosis in Down's syndrome. J Pediatr Orthop B. 2017 Jul;26(4):383-7.
Mik G, Gholve PA, Scher DM, Widmann RF, Green DW. Down syndrome: orthopedic issues. Curr Opin Pediatr. 2008 Feb;20(1):30-6.
Patel AJ, Agadi S, Thomas JG, Schmidt RJ, Hwang SW, Fulkerson DH, et al. Neurophysiologic intraoperative monitoring in children with Down syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2013 Feb;29(2):281-7.
Takata Y, Sakai T, Higashino K, Matsuura T, Suzue N, Hamada D, et al. State of the art: Intraoperative neuromonitoring in spinal deformity surgery. The journal of medical investigation: JMI. 2015;62(3-4):103-8.
Mima T, Hallet M. Corticomuscular Coherence: A Review. Journal of Clinical Neurophysiology. 1999 1999;16(6):501-20.
Norton JA, Gorassini MA. Changes in Cortically Related Inter-muscular Coherence Accompanying Improvements in Locomotor Skills in Incomplete Spinal Cord Injury. Journal of Neurophysiology. 2006 2006;95(4):2580-9.
Christakos C. On the Detection and Measurement of Synchrony in Neural Populations by Coherence Analysis. Journal of Neurophysiology. 1997 1997;78(6):3453-9.
Nuwer M, Emerson R, Galloway G, Legatt A, Lopez J, Minahan R, et al. Evidence-based guideline update: Intraoperative spinal monitoring with somatosensory and transcranial electrical motor evoked potentials: Report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology and the American Clinical Neurophysiology Society. Neurology. 2012 2012;78(8):585-9.
Halliday DM, Rosenberg JR. Time and Frequency Domain Analysis of Spike Train and Time Series Data. In: U W, R J, editors. Modern Techniques in Neuroscience Research: Springer Verlag; 1999. p. 503-43.
Rosenberg JR, Halliday DM, Breeze P, Conway BA. Identification of Patterns of Neuronal Connectivity- Partial Spectra, Partial Coherence, and Neuronal Interactions. Journal of Neuroscience Methods. 1998 1998;83:57-72.
Amjad AM, Halliday DM, Rosenberg JR, Conway BA. An Extended Difference of Coherence Test for Comparing and Combining Several Independent Coherence Estimates: Theory and Application to the Study of Motor Units and Physiological Tremor. Journal of Neuroscience Methods. 1997 1997;73:69-79.
Muzyka I, Estephan B. Somatosensory Evoked Potentials. In: KH L, P C, editors. Clinical Neurophysiology2019. p. 523-42.
Nuwer MR. Intraoperative Monitoring of Neural Function. JR D, F M, editors. New York: Elsevier; 2008 2008.
Challis RE, Kitney RI. Biomedical Signal Processing. Part 3. The Power Spectrum and Coherence Function. Medical and Biological Engineering and Computing. 1991 1991;29(3):225-41.
Fisher KM, Zaaimi B, Williams TL, Baker SN, Baker MR. Beta-band intermuscular coherence: a novel biomarker of upper motor neuron dysfunction in motor neuron disease. Brain. 2012 Sep;135(Pt 9):2849-64.
Schmid RG, Tirsch WS, Rappelsberger P, Weinmann HM, Poppl SJ. Comparative coherence studies in healthy volunteers and Down's syndrome patients from childhood to adult age. Electroencephalogr Clin Neurophysiol. 1992 Aug;83(2):112-23.
Anderson JS, Nielsen JA, Ferguson MA, Burback MC, Cox ET, Dai L, et al. Abnormal brain synchrony in Down Syndrome. NeuroImage Clinical. 2013;2:703-15.
Bartolomei F, Lagarde S, Wendling F, McGonigal A, Jirsa V, Guye M, et al. Defining epileptogenic networks: Contribution of SEEG and signal analysis. Epilepsia. 2017 Jul;58(7):1131-47.
Nardone R, Marth R, Ausserer H, Bratti A, Tezzon F. Reduced short latency afferent inhibition in patients with Down syndrome and Alzheimer-type dementia. Clinical neurophysiology: official journal of the International Federation of Clinical Neurophysiology. 2006 Oct;117(10):2204-10.
Araujo BH, Torres LB, Guilhoto LM. Cerebal over inhibition could be the basis for the high prevalence of epilepsy in persons with Down syndrome. Epilepsy Behav. 2015 Dec;53:120-5.
Towle VL, Hunter JD, Edgar JC, Chkhenkeil SA, Castelle MC, Frim DM, et al. Frequency Domain Analysis of Human Subdural Recordings. Journal of Clinical Neurophysiology. 2007 2007;24(2):205-13.
Rothwell J. Transcranial brain stimulation: Past and future. Brain Neurosci Adv. 2018 Jan-Dec;2:2398212818818070.
Pernelle G, Nicola W, Clopath C. Gap junction plasticity as a mechanism to regulate network-wide oscillations. PLoS Comput Biol. 2018 Mar;14(3):e1006025.
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