Altered Brain Structure in Infants with Turner Syndrome

Overview

Journal Cereb Cortex

Publisher Oxford University Press

Specialty Neurology

Date 2019 Jun 20

PMID 31216015

Citations 7

Authors

M L Davenport

E Cornea

K Xia

J J Crowley

M W Halvorsen

B D Goldman

D Reinhartsen

M DeRamus

R Pretzel

M Styner

J H Gilmore

S R Hooper

R C Knickmeyer

Affiliations

Soon will be listed here.

Abstract

Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.

Citing Articles

White matter microstructure and functional connectivity in the brains of infants with Turner syndrome.

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Clinical practice guidelines for the care of girls and women with Turner syndrome.

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Organ Abnormalities Caused by Turner Syndrome.

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References

Nijhuis-van Der Sanden M, Eling P, Otten B . A review of neuropsychological and motor studies in Turner Syndrome. Neurosci Biobehav Rev. 2003; 27(4):329-38. DOI: 10.1016/s0149-7634(03)00062-9. View

Pennington B, Bender B, Puck M, Salbenblatt J, Robinson A . Learning disabilities in children with sex chromosome anomalies. Child Dev. 1982; 53(5):1182-92. View

Murphy M, Mazzocco M, Gerner G, Henry A . Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. Brain Cogn. 2006; 61(2):195-210. DOI: 10.1016/j.bandc.2005.12.014. View

Hong D, Dunkin B, Reiss A . Psychosocial functioning and social cognitive processing in girls with Turner syndrome. J Dev Behav Pediatr. 2011; 32(7):512-20. PMC: 3179767. DOI: 10.1097/DBP.0b013e3182255301. View

Brown W, Kesler S, Eliez S, Warsofsky I, Haberecht M, Patwardhan A . Brain development in Turner syndrome: a magnetic resonance imaging study. Psychiatry Res. 2002; 116(3):187-96. PMC: 3061616. DOI: 10.1016/s0925-4927(02)00086-0. View

Knickmeyer R . Turner syndrome: advances in understanding altered cognition, brain structure and function. Curr Opin Neurol. 2012; 25(2):144-9. DOI: 10.1097/WCO.0b013e3283515e9e. View

Romans S, Stefanatos G, Roeltgen D, Kushner H, Ross J . Transition to young adulthood in Ullrich-Turner syndrome: neurodevelopmental changes. Am J Med Genet. 1998; 79(2):140-7. View

Temple C, Shephard E . Exceptional lexical skills but executive language deficits in school starters and young adults with Turners syndrome: implications for X chromosome effects on brain function. Brain Lang. 2012; 120(3):345-59. DOI: 10.1016/j.bandl.2011.12.001. View

Ganou M, Grouios G . Cerebral laterality in Turner syndrome: a critical review of the literature. Child Neuropsychol. 2007; 14(2):135-47. DOI: 10.1080/09297040701346099. View

10.

Shi F, Yap P, Wu G, Jia H, Gilmore J, Lin W . Infant brain atlases from neonates to 1- and 2-year-olds. PLoS One. 2011; 6(4):e18746. PMC: 3077403. DOI: 10.1371/journal.pone.0018746. View

11.

Rogers S, Vismara L, Wagner A, McCormick C, Young G, Ozonoff S . Autism treatment in the first year of life: a pilot study of infant start, a parent-implemented intervention for symptomatic infants. J Autism Dev Disord. 2014; 44(12):2981-95. PMC: 4951093. DOI: 10.1007/s10803-014-2202-y. View

12.

Loesch D, Bui Q, Kelso W, Huggins R, Slater H, Warne G . Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data. Brain Dev. 2005; 27(7):494-503. DOI: 10.1016/j.braindev.2004.12.009. View

13.

Ross J, Kushner H, Roeltgen D . Developmental changes in motor function in girls with Turner syndrome. Pediatr Neurol. 1996; 15(4):317-22. DOI: 10.1016/s0887-8994(96)00227-5. View

14.

Hong D, Bray S, Haas B, Hoeft F, Reiss A . Aberrant neurocognitive processing of fear in young girls with Turner syndrome. Soc Cogn Affect Neurosci. 2012; 9(3):255-64. PMC: 3980805. DOI: 10.1093/scan/nss133. View

15.

Cutter W, Daly E, Robertson D, Chitnis X, van Amelsvoort T, Simmons A . Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome. Biol Psychiatry. 2005; 59(3):273-83. DOI: 10.1016/j.biopsych.2005.06.026. View

16.

Sharma A, Jamil M, Nuesgen N, Schreiner F, Priebe L, Hoffmann P . DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clin Epigenetics. 2015; 7:76. PMC: 4517491. DOI: 10.1186/s13148-015-0112-2. View

17.

Knickmeyer R, Davenport M . Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders. J Neurodev Disord. 2011; 3(4):293-306. PMC: 3261262. DOI: 10.1007/s11689-011-9089-0. View

18.

Kesler S, Garrett A, Bender B, Yankowitz J, Zeng S, Reiss A . Amygdala and hippocampal volumes in Turner syndrome: a high-resolution MRI study of X-monosomy. Neuropsychologia. 2004; 42(14):1971-8. PMC: 3051368. DOI: 10.1016/j.neuropsychologia.2004.04.021. View

19.

Stiles J, Jernigan T . The basics of brain development. Neuropsychol Rev. 2010; 20(4):327-48. PMC: 2989000. DOI: 10.1007/s11065-010-9148-4. View

20.

Beaton E, Stoddard J, Lai S, Lackey J, Shi J, Ross J . Atypical functional brain activation during a multiple object tracking task in girls with Turner syndrome: neurocorrelates of reduced spatiotemporal resolution. Am J Intellect Dev Disabil. 2010; 115(2):140-56. PMC: 2967304. DOI: 10.1352/1944-7558-115.2.140. View