A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder

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Hegarty, J. P., Gu, M., Spielman, D. M., Cleveland, S. C., Hallmayer, J. F., Lazzeroni, L. C., Raman, M. M., Frazier, T. W., Phillips, J. M., Reiss, A. L., & Hardan, A. Y. (2017). A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 81, 153-160. https://doi.org/10.1016/j.pnpbp.2017.09.016

Publication date: 21 Sep 2017 Added to AutiHub: 5 Oct 2026 Type: Article Article language: English
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Authors

Publication authors
11
Publication authors identified as autistic
1 / 11 (9.1%)
  1. John P. Hegarty *
  2. Meng Gu
  3. Daniel M. Spielman
  4. Sue C. Cleveland
  1. Joachim F. Hallmayer
  2. Laura C. Lazzeroni
  3. Mira M. Raman
  4. Thomas W. Frazier
  1. Jennifer M. Phillips
  2. Allan L. Reiss
  3. Antonio Y. Hardan

Abstract

Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with 1H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific.

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Cited references
74
With a DOI
62
Without a DOI, from raw bibliography text
10
0 / 74 (0.0%) cited references include at least one author identified as autistic.
References with data to complete
2 / 74 (2.7%)
References with detected author names
73 / 74 (98.6%)
Without detected author names
1
Without a structured title
1
Without a stable identifier
7
References with raw author names still to review
0
References with external metadata lookup issues
1
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Author names detected in the cited bibliography
368
From DOI or external metadata
368
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
0
62 / 368 (16.8%) names are linked to an author already present in AutiHub. 306 / 368 (83.2%) names are not yet linked.
Names linked to a person identified as autistic
0 / 368 (0.0%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 0 / 62 (0.0%). Distinct people identified as autistic: 0 / 318 (0.0%).
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