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Mortillo M, Mulle JG. A cross-comparison of cognitive ability across 8 genomic disorders. Curr Opin Genet Dev. 2021;68:106-116doi: 10.1016/j.gde.2021.04.001.
Mortillo, M., & Mulle, J. G. (2021). A cross-comparison of cognitive ability across 8 genomic disorders. Current opinion in genetics & development, 68106-116. https://doi.org/10.1016/j.gde.2021.04.001
Mortillo, Michael, and Mulle, Jennifer G. "A cross-comparison of cognitive ability across 8 genomic disorders." Current opinion in genetics & development vol. 68 (2021): 106-116. doi: https://doi.org/10.1016/j.gde.2021.04.001
Mortillo M, Mulle JG. A cross-comparison of cognitive ability across 8 genomic disorders. Curr Opin Genet Dev. 2021 Jun;68:106-116. doi: 10.1016/j.gde.2021.04.001. Epub 2021 May 31. PMID: 34082144; PMCID: PMC8259020.
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Curr Opin Genet Dev. 2021 Jun;68:106-116. doi: 10.1016/j.gde.2021.04.001. Epub 2021 May 31.

A cross-comparison of cognitive ability across 8 genomic disorders.

Current opinion in genetics & development

Michael Mortillo, Jennifer G Mulle

Affiliations

  1. Department of Human Genetics, Emory University, Atlanta, GA, United States.
  2. Department of Human Genetics, Emory University, Atlanta, GA, United States. Electronic address: [email protected].

PMID: 34082144 PMCID: PMC8259020 DOI: 10.1016/j.gde.2021.04.001

Abstract

Genomic disorders result from rearrangement of the human genome. Most genomic disorders are caused by copy number variants (CNV), deletions or duplications of several hundred kilobases. Many CNV loci are associated with autism, schizophrenia, and most commonly, intellectual disability (ID). However, there is little comparison of cognitive ability measures across these CNV disorders. This study aims to understand whether existing data can be leveraged for a cross-comparison of cognitive ability among multiple CNV. We found there is a lack of harmonization among assessment instruments and little standardization for reporting summary data across studies. Despite these limitations, we identified a differential impact of CNV loci on cognitive ability. Our data suggest that future cross-comparisons of CNV disorders will reveal meaningful differences across the phenotypic spectrum, especially if standardized phenotypic assessment is achieved.

Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.

References

  1. Am J Intellect Dev Disabil. 2016 Jan;121(1):33-47 - PubMed
  2. Genet Med. 2012 Oct;14(10):836-43 - PubMed
  3. Behav Brain Funct. 2017 Feb 16;13(1):4 - PubMed
  4. Nat Med. 2020 Dec;26(12):1912-1918 - PubMed
  5. Child Neuropsychol. 2009 Nov;15(6):532-42 - PubMed
  6. Eur Child Adolesc Psychiatry. 2019 Jan;28(1):31-42 - PubMed
  7. J Autism Dev Disord. 2014 Apr;44(4):739-46 - PubMed
  8. J Autism Dev Disord. 2016 Jun;46(6):2126-2137 - PubMed
  9. Genet Med. 2019 Apr;21(4):816-825 - PubMed
  10. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):27-36 - PubMed
  11. Aging Cell. 2016 Feb;15(1):49-55 - PubMed
  12. Lancet Psychiatry. 2019 Jun;6(6):493-505 - PubMed
  13. Mol Autism. 2014 Feb 11;5(1):11 - PubMed
  14. Psychiatry Res. 2010 Jan 30;181(1):1-8 - PubMed
  15. Schizophr Res. 2020 Oct;224:141-150 - PubMed
  16. PLoS Genet. 2011 Nov;7(11):e1002334 - PubMed
  17. J Psychiatry Neurosci. 2016 Apr;41(3):182-91 - PubMed
  18. Brain. 2019 Dec 1;142(12):3963-3974 - PubMed
  19. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):380-391 - PubMed
  20. J Neurodev Disord. 2017 Jun 5;9:18 - PubMed
  21. J Intellect Disabil Res. 2004 Feb;48(Pt 2):172-87 - PubMed
  22. Neuroimage Clin. 2019;21:101611 - PubMed
  23. Am J Intellect Dev Disabil. 2010 Jan;115(1):3-18 - PubMed
  24. Autism Res. 2019 Dec;12(12):1737-1744 - PubMed
  25. Nat Genet. 2017 Jan;49(1):27-35 - PubMed
  26. Genet Med. 2001 Jan-Feb;3(1):34-9 - PubMed
  27. Cereb Cortex. 2018 Jul 1;28(7):2422-2430 - PubMed
  28. Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):118-29 - PubMed
  29. J Autism Dev Disord. 2012 Nov;42(11):2486-90 - PubMed
  30. Genomics. 2013 Aug;102(2):112-22 - PubMed
  31. Radiology. 2018 Jan;286(1):217-226 - PubMed
  32. Psychol Med. 2003 Jan;33(1):141-53 - PubMed
  33. Philos Trans R Soc Lond B Biol Sci. 2019 Jul 22;374(1777):20190102 - PubMed
  34. Eur Child Adolesc Psychiatry. 2015 Sep;24(9):1025-33 - PubMed
  35. J Neurodev Disord. 2014;6(1):16 - PubMed
  36. Ann Ist Super Sanita. 2020 Jan-Mar;56(1):107-113 - PubMed
  37. Neuron. 2011 Jun 9;70(5):863-85 - PubMed
  38. J Dev Behav Pediatr. 2010 Oct;31(8):649-57 - PubMed
  39. J Autism Dev Disord. 2018 Jun;48(6):1982-1994 - PubMed
  40. Res Dev Disabil. 2013 May;34(5):1758-69 - PubMed
  41. JAMA Psychiatry. 2019 Aug 1;76(8):818-825 - PubMed
  42. Orphanet J Rare Dis. 2016 Nov 16;11(1):153 - PubMed
  43. Schizophr Res. 2019 Jun;208:76-81 - PubMed
  44. Genet Med. 2001 Jan-Feb;3(1):56-60 - PubMed
  45. Neuropsychologia. 2010 Sep;48(11):3298-304 - PubMed
  46. Front Psychol. 2012 Jun 25;3:197 - PubMed
  47. Behav Genet. 2018 Jul;48(4):323-336 - PubMed
  48. Clin Genet. 2018 Mar;93(3):439-449 - PubMed
  49. Arch Clin Neuropsychol. 2021 Feb 19;: - PubMed
  50. Genome Med. 2017 Mar 2;9(1):22 - PubMed
  51. PLoS One. 2012;7(10):e47457 - PubMed
  52. Biol Psychiatry. 2014 Mar 1;75(5):378-85 - PubMed
  53. J Autism Dev Disord. 2013 Jan;43(1):103-13 - PubMed
  54. Int J Mol Sci. 2017 May 18;18(5): - PubMed
  55. Asian Pac J Allergy Immunol. 2020 May 17;: - PubMed
  56. Am J Ment Retard. 2004 May;109(3):231-6 - PubMed
  57. Epilepsia. 2019 May;60(5):818-829 - PubMed
  58. J Int Neuropsychol Soc. 2018 Oct;24(9):905-916 - PubMed
  59. J Appl Res Intellect Disabil. 2016 Nov;29(6):566-573 - PubMed
  60. Res Dev Disabil. 2009 Jul-Aug;30(4):763-73 - PubMed
  61. Int J Prev Med. 2019 Mar 05;10:34 - PubMed
  62. J Commun Disord. 2013 Mar-Apr;46(2):193-201 - PubMed
  63. Br J Psychiatry. 2012 Jun;200(6):462-8 - PubMed
  64. JAMA Psychiatry. 2020 Dec 1;77(12):1276-1285 - PubMed
  65. Arch Gen Psychiatry. 1999 Oct;56(10):940-5 - PubMed
  66. Res Dev Disabil. 2010 May-Jun;31(3):864-8 - PubMed
  67. Eur J Med Genet. 2018 Apr;61(4):209-212 - PubMed
  68. Psychol Med. 2008 Jan;38(1):89-100 - PubMed
  69. Eur Psychiatry. 2019 Jan;55:116-121 - PubMed
  70. Am J Med Genet A. 2007 Nov 15;143A(22):2642-50 - PubMed
  71. J Neurodev Disord. 2017 Sep 25;9(1):35 - PubMed
  72. J Neurodev Disord. 2016 Nov 10;8:41 - PubMed
  73. BMC Neurol. 2014 Dec 10;14:232 - PubMed
  74. Mol Psychiatry. 2014 May;19(5):568-72 - PubMed
  75. Isr Med Assoc J. 2018 Jun;20(6):373-378 - PubMed
  76. Biol Psychiatry. 2020 Aug 1;88(3):260-272 - PubMed
  77. Mol Genet Metab. 2017 Jun;121(2):127-137 - PubMed
  78. J Neurodev Disord. 2016 Nov 16;8:42 - PubMed
  79. Compr Psychiatry. 2015 Apr;58:189-97 - PubMed
  80. J Neurodev Disord. 2019 Aug 30;11(1):20 - PubMed
  81. Neuroimage Clin. 2017 May 11;15:832-842 - PubMed
  82. Psychol Med. 2019 Apr;49(6):1047-1054 - PubMed
  83. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1112-1115 - PubMed
  84. J Neural Transm (Vienna). 2007;114(11):1495-501 - PubMed
  85. Front Psychol. 2018 Jul 24;9:1265 - PubMed
  86. J Intellect Disabil Res. 2010 Aug;54(8):701-13 - PubMed
  87. J Child Psychol Psychiatry. 2008 Sep;49(9):1001-8 - PubMed
  88. Am J Med Genet A. 2020 Jul;182(7):1615-1630 - PubMed
  89. J Neurodev Disord. 2012 Oct 26;4(1):24 - PubMed
  90. J Am Acad Child Adolesc Psychiatry. 2010 Jul;49(7):665-74 - PubMed
  91. Res Dev Disabil. 2018 Oct;81:89-102 - PubMed
  92. Am J Hum Genet. 2008 Feb;82(2):477-88 - PubMed
  93. PLoS One. 2015 Sep 10;10(9):e0137628 - PubMed
  94. Br J Psychiatry. 2017 Oct;211(4):223-230 - PubMed
  95. Clin Genet. 1991 Dec;40(6):430-4 - PubMed
  96. J Intellect Disabil Res. 2007 Jun;51(Pt. 6):478-87 - PubMed
  97. J Intellect Disabil Res. 2000 Feb;44 ( Pt 1):25-30 - PubMed
  98. Child Adolesc Psychiatry Ment Health. 2017 Jul 24;11:40 - PubMed
  99. Neuropsychologia. 2008 Jan 15;46(1):206-12 - PubMed
  100. J Learn Disabil. 2014 Mar-Apr;47(2):153-66 - PubMed
  101. J Neurodev Disord. 2019 Dec 20;11(1):40 - PubMed
  102. Dev Neuropsychol. 2018;43(5):454-477 - PubMed
  103. Res Dev Disabil. 2019 Feb;85:229-242 - PubMed
  104. Child Neuropsychol. 2018 Jan;24(1):1-19 - PubMed
  105. Nat Med. 2019 Oct;25(10):1477-1487 - PubMed
  106. Eur Psychiatry. 2017 Jul;44:47-52 - PubMed
  107. J Child Psychol Psychiatry. 2005 Oct;46(10):1089-96 - PubMed
  108. Soc Cogn Affect Neurosci. 2009 Mar;4(1):93-100 - PubMed
  109. Eur Psychiatry. 2014 May;29(4):203-10 - PubMed
  110. Cortex. 2005 Jun;41(3):282-90 - PubMed
  111. Clin Genet. 2016 Nov;90(5):420-427 - PubMed
  112. J Autism Dev Disord. 2011 Mar;41(3):341-51 - PubMed
  113. Am J Med Genet A. 2005 Jul 15;136(2):140-5 - PubMed
  114. J Dev Behav Pediatr. 2006 Jun;27(3):188-92 - PubMed
  115. Schizophr Res. 2013 Dec;151(1-3):221-5 - PubMed
  116. Hum Mol Genet. 2007 Jan 1;16(1):83-91 - PubMed
  117. Nat Genet. 2011 Aug 14;43(9):838-46 - PubMed
  118. Mol Genet Genomic Med. 2019 Jun;7(6):e695 - PubMed
  119. Dev Med Child Neurol. 2001 Dec;43(12):823-8 - PubMed
  120. Neuropsychologia. 2008 Oct;46(12):2986-92 - PubMed
  121. Korean J Intern Med. 2015 May;30(3):294-304 - PubMed
  122. J Appl Res Intellect Disabil. 2013 Jul;26(4):309-18 - PubMed
  123. J Intellect Disabil Res. 2017 Jul;61(7):707-718 - PubMed
  124. J Intellect Disabil Res. 2005 Dec;49(Pt 12):929-39 - PubMed
  125. Am J Ment Retard. 1999 Nov;104(6):523-32 - PubMed
  126. J Formos Med Assoc. 2007 Jun;106(6):509-12 - PubMed
  127. J Med Genet. 2019 Mar;56(3):131-138 - PubMed
  128. J Pediatr. 1999 Feb;134(2):193-8 - PubMed
  129. Eur Child Adolesc Psychiatry. 2012 Jul;21(7):379-85 - PubMed
  130. J Neurodev Disord. 2018 Aug 6;10(1):24 - PubMed
  131. Res Dev Disabil. 2014 Oct;35(10):2403-15 - PubMed
  132. J Child Psychol Psychiatry. 1998 Feb;39(2):183-9 - PubMed
  133. Neuroimage Clin. 2020;27:102351 - PubMed
  134. Schizophr Res. 2009 Dec;115(2-3):182-90 - PubMed
  135. PLoS One. 2016 Nov 15;11(11):e0166533 - PubMed
  136. Genet Med. 2021 May;23(5):872-880 - PubMed
  137. Curr Genet Med Rep. 2017 Dec;5(4):183-190 - PubMed
  138. Biol Psychiatry. 2017 Jul 15;82(2):103-110 - PubMed
  139. Tijdschr Psychiatr. 2013;55(5):369-74 - PubMed
  140. BMC Med Genet. 2014 Oct 14;15:106 - PubMed
  141. J Can Acad Child Adolesc Psychiatry. 2012 Aug;21(3):194-203 - PubMed
  142. J Intellect Disabil Res. 2010 Mar;54(3):204-15 - PubMed
  143. Soc Neurosci. 2016;11(3):277-88 - PubMed
  144. Am J Med Genet. 1996 Mar 29;62(3):247-54 - PubMed
  145. Res Dev Disabil. 2013 Jan;34(1):116-25 - PubMed
  146. Am J Med Genet A. 2004 Jul 15;128A(2):110-3 - PubMed
  147. Schizophr Res. 2014 Mar;153(1-3):231-6 - PubMed
  148. Biol Psychiatry. 2016 Jul 15;80(2):129-139 - PubMed
  149. Dev Psychobiol. 2006 Sep;48(6):482-91 - PubMed
  150. Child Neuropsychol. 2016;22(5):556-69 - PubMed
  151. J Psychiatr Res. 2014 Sep;56:28-35 - PubMed
  152. Hum Brain Mapp. 2017 Apr;38(4):2177-2189 - PubMed
  153. Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):790-6 - PubMed
  154. J Am Acad Child Adolesc Psychiatry. 2006 May;45(5):596-603 - PubMed
  155. Neuroimage. 2007 Jul 15;36(4):1096-109 - PubMed
  156. Schizophr Res. 2006 Jun;84(2-3):187-93 - PubMed
  157. Neuropsychologia. 2016 May;85:137-47 - PubMed
  158. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405 - PubMed
  159. J Am Acad Child Adolesc Psychiatry. 2010 Nov;49(11):1091-104 - PubMed
  160. J Pediatr. 2010 Oct;157(4):658-61 - PubMed
  161. Psychiatry Res. 2017 Aug;254:238-243 - PubMed
  162. J Psychiatry Neurosci. 2016 Apr;41(3):203-13 - PubMed
  163. J Intellect Disabil Res. 2015 Sep;59(9):845-59 - PubMed
  164. J Med Genet. 2010 May;47(5):332-41 - PubMed
  165. Br J Psychiatry. 2018 Jan;212(1):27-33 - PubMed
  166. Neuroimage Clin. 2017 Dec 20;17:899-909 - PubMed
  167. Clin Perinatol. 2015 Jun;42(2):227-42, vii - PubMed
  168. Am J Intellect Dev Disabil. 2015 Jul;120(4):315-27 - PubMed
  169. Res Dev Disabil. 2010 Mar-Apr;31(2):587-99 - PubMed
  170. J Intellect Disabil Res. 2007 Sep;51(Pt 9):666-70 - PubMed
  171. Am J Med Genet A. 2015 May;167A(5):983-91 - PubMed
  172. Psychol Rep. 2002 Apr;90(2):355-9 - PubMed
  173. Behav Brain Funct. 2012 Aug 01;8:38 - PubMed
  174. Psychol Rep. 2013 Dec;113(3):823-54 - PubMed
  175. JAMA Psychiatry. 2015 Feb;72(2):119-26 - PubMed
  176. Soc Cogn Affect Neurosci. 2014 Sep;9(9):1261-7 - PubMed
  177. Psychiatry Res. 2012 Apr 30;196(2-3):277-84 - PubMed
  178. Eur Neuropsychopharmacol. 2016 Oct;26(10):1610-8 - PubMed
  179. Res Dev Disabil. 2014 Nov 16;36C:565-578 - PubMed
  180. Biol Psychiatry. 2005 Jul 1;58(1):23-31 - PubMed
  181. J Intellect Disabil Res. 2017 Apr;61(4):348-362 - PubMed
  182. Neuroimage Clin. 2019;21:101664 - PubMed
  183. J Autism Dev Disord. 2016 Jun;46(6):2174-2185 - PubMed
  184. Neuropsychologia. 2010 Mar;48(4):1071-8 - PubMed
  185. Dis Model Mech. 2013 Mar;6(2):358-72 - PubMed
  186. PLoS One. 2014 Sep 16;9(9):e107320 - PubMed
  187. PLoS One. 2012;7(12):e37385 - PubMed
  188. Am J Ment Retard. 2004 Mar;109(2):142-53 - PubMed
  189. Am J Med Genet A. 2015 Jul;167(7):1436-50 - PubMed
  190. Dev Sci. 2010 May;13(3):454-468 - PubMed

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