Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by difficulties with social interaction, repetitive behavior, and additional features, such as special interests. Its precise etiology is unclear. Recently, immunological mechanisms, such as maternal autoantibodies/...

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Main Authors: Kimon Runge, Ludger Tebartz van Elst, Simon Maier, Kathrin Nickel, Dominik Denzel, Miriam Matysik, Hanna Kuzior, Tilman Robinson, Thomas Blank, Rick Dersch, Katharina Domschke, Dominique Endres
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Brain Sciences
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Online Access:https://www.mdpi.com/2076-3425/10/6/355
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author Kimon Runge
Ludger Tebartz van Elst
Simon Maier
Kathrin Nickel
Dominik Denzel
Miriam Matysik
Hanna Kuzior
Tilman Robinson
Thomas Blank
Rick Dersch
Katharina Domschke
Dominique Endres
author_facet Kimon Runge
Ludger Tebartz van Elst
Simon Maier
Kathrin Nickel
Dominik Denzel
Miriam Matysik
Hanna Kuzior
Tilman Robinson
Thomas Blank
Rick Dersch
Katharina Domschke
Dominique Endres
author_sort Kimon Runge
collection DOAJ
description Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by difficulties with social interaction, repetitive behavior, and additional features, such as special interests. Its precise etiology is unclear. Recently, immunological mechanisms, such as maternal autoantibodies/infections, have increasingly been the subject of discussion. Cerebrospinal fluid (CSF) investigations play a decisive role in the detection of immunological processes in the brain. This study therefore retrospectively analyzed the CSF findings of adult patients with ASD. CSF basic measures (white blood cell count, total protein, albumin quotient, immunoglobulin G (IgG) index, and oligoclonal bands) and various antineuronal antibody findings of 36 adult patients with ASD, who had received lumbar puncture, were compared with an earlier described mentally healthy control group of 39 patients with idiopathic intracranial hypertension. CSF protein concentrations and albumin quotients of patients with ASD were significantly higher as compared to controls (age corrected: <i>p</i> = 0.003 and <i>p</i> = 0.004, respectively); 17% of the patients with ASD showed increased albumin quotients. After correction for age and gender, the group effect for total protein remained significant (<i>p</i> = 0.041) and showed a tendency for albumin quotient (<i>p</i> = 0.079). In the CSF of two ASD patients, an intrathecal synthesis of anti-glutamate decarboxylase 65 (GAD65) antibodies was found. In total, more of the ASD patients (44%) presented abnormal findings in CSF basic diagnostics compared to controls (18%; <i>p</i> = 0.013). A subgroup of the patients with adult ASD showed indication of a blood–brain barrier dysfunction, and two patients displayed an intrathecal synthesis of anti-GAD65 antibodies; thus, the role of these antibodies in patients with ASD should be further investigated. The results of the study are limited by its retrospective and open design. The group differences in blood–brain barrier markers could be influenced by a different gender distribution between ASD patients and controls.
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spelling doaj.art-0abf2eb79c88468a95c7f4e131d073b52023-11-20T03:11:45ZengMDPI AGBrain Sciences2076-34252020-06-0110635510.3390/brainsci10060355Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum DisorderKimon Runge0Ludger Tebartz van Elst1Simon Maier2Kathrin Nickel3Dominik Denzel4Miriam Matysik5Hanna Kuzior6Tilman Robinson7Thomas Blank8Rick Dersch9Katharina Domschke10Dominique Endres11Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanyDepartment of Neurology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanyInstitute of Neuropathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanyDepartment of Neurology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanyDepartment of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanySection for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, GermanyAutism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by difficulties with social interaction, repetitive behavior, and additional features, such as special interests. Its precise etiology is unclear. Recently, immunological mechanisms, such as maternal autoantibodies/infections, have increasingly been the subject of discussion. Cerebrospinal fluid (CSF) investigations play a decisive role in the detection of immunological processes in the brain. This study therefore retrospectively analyzed the CSF findings of adult patients with ASD. CSF basic measures (white blood cell count, total protein, albumin quotient, immunoglobulin G (IgG) index, and oligoclonal bands) and various antineuronal antibody findings of 36 adult patients with ASD, who had received lumbar puncture, were compared with an earlier described mentally healthy control group of 39 patients with idiopathic intracranial hypertension. CSF protein concentrations and albumin quotients of patients with ASD were significantly higher as compared to controls (age corrected: <i>p</i> = 0.003 and <i>p</i> = 0.004, respectively); 17% of the patients with ASD showed increased albumin quotients. After correction for age and gender, the group effect for total protein remained significant (<i>p</i> = 0.041) and showed a tendency for albumin quotient (<i>p</i> = 0.079). In the CSF of two ASD patients, an intrathecal synthesis of anti-glutamate decarboxylase 65 (GAD65) antibodies was found. In total, more of the ASD patients (44%) presented abnormal findings in CSF basic diagnostics compared to controls (18%; <i>p</i> = 0.013). A subgroup of the patients with adult ASD showed indication of a blood–brain barrier dysfunction, and two patients displayed an intrathecal synthesis of anti-GAD65 antibodies; thus, the role of these antibodies in patients with ASD should be further investigated. The results of the study are limited by its retrospective and open design. The group differences in blood–brain barrier markers could be influenced by a different gender distribution between ASD patients and controls.https://www.mdpi.com/2076-3425/10/6/355Asperger syndromeautism spectrum disorderadultscerebrospinal fluidantibodiesblood–brain barrier
spellingShingle Kimon Runge
Ludger Tebartz van Elst
Simon Maier
Kathrin Nickel
Dominik Denzel
Miriam Matysik
Hanna Kuzior
Tilman Robinson
Thomas Blank
Rick Dersch
Katharina Domschke
Dominique Endres
Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
Brain Sciences
Asperger syndrome
autism spectrum disorder
adults
cerebrospinal fluid
antibodies
blood–brain barrier
title Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
title_full Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
title_fullStr Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
title_full_unstemmed Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
title_short Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder
title_sort cerebrospinal fluid findings of 36 adult patients with autism spectrum disorder
topic Asperger syndrome
autism spectrum disorder
adults
cerebrospinal fluid
antibodies
blood–brain barrier
url https://www.mdpi.com/2076-3425/10/6/355
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