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Journal of Autism and Developmental Disorders

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01-01-2012 | Original Paper

Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder

Auteurs: Neva M. Corrigan, Dennis. W. W. Shaw, Todd L. Richards, Annette M. Estes, Seth D. Friedman, Helen Petropoulos, Alan A. Artru, Stephen R. Dager

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 1/2012

Abstract

Brain mitochondrial dysfunction has been proposed as an etiologic factor in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopic imaging (¹HMRS) and MRI were used to assess for evidence of brain mitochondrial dysfunction in longitudinal samples of children with ASD or developmental delay (DD), and cross-sectionally in typically developing (TD) children at 3–4, 6–7 and 9–10 years-of-age. A total of 239 studies from 130 unique participants (54ASD, 22DD, 54TD) were acquired. ¹HMRS and MRI revealed no evidence for brain mitochondrial dysfunction in the children with ASD. Findings do not support a substantive role for brain mitochondrial abnormalities in the etiology or symptom expression of ASD, nor the widespread use of hyperbaric oxygen treatment that has been advocated on the basis of this proposed relationship.

vorige artikel Hospitalization Burden Among Individuals with Autism

volgende artikel Estimation of the Intelligence Quotient Using Wechsler Intelligence Scales in Children and Adolescents with Asperger Syndrome

American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4 edn.). Washington, DC: American Psychiatric Association.

Amundsen, L. B., Artru, A. A., Dager, S. R., Shaw, D. W. W., Friedman, S., Sparks, B., et al. (2005). Propofol sedation for longitudinal pediatric neuroimaging research. Journal of Neurosurgical Anesthesiology, 17(4), 180–192.PubMedCrossRef

Bianchi, M. C., Sgandurra, G., Tosetti, M., Battini, R., & Cioni, G. (2007). Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Bioscience Reports, 27(1–3), 69–85.PubMedCrossRef

Bonavita, S., Di Salle, F., & Tedeschi, G. (1999). Proton MRS in neurological disorders. European Journal of Radiology, 30(2), 125–131.PubMedCrossRef

Burtscher, I. M., & Holtås, S. (2001). Proton MR spectroscopy in clinical routine. Journal of Magnetic Resonance Imaging, 13(4), 560–567.PubMedCrossRef

Calabrese, V., Scapagnini, G., Giuffrida Stella, A. M., Bates, T. E., & Clark, J. B. (2001). Mitochondrial involvement in brain function and dysfunction: Relevance to aging, neurodegenerative disorders and longevity. Neurochemical Research, 26(6), 739–764.PubMedCrossRef

Castillo, M., Kwock, L., & Green, C. (1995). MELAS syndrome: Imaging and proton MR spectroscopic findings. AJNR. American Journal of Neuroradiology, 16(2), 233–239.PubMed

Chugani, D. C., Sundram, B. S., Behen, M., Lee, M. L., & Moore, G. J. (1999). Evidence of altered energy metabolism in autistic children. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 23(4), 635–641.PubMedCrossRef

Coleman, M., & Blass, J. P. (1985). Autism and lactic acidosis. Journal of Autism and Developmental Disorders, 15(1), 1–8.PubMedCrossRef

Corrigan, N. M., Richards, T. L., Friedman, S. D., Petropoulos, H., & Dager, S. R. (2010). Improving 1H MRSI measurement of cerebral lactate for clinical applications. Psychiatry Res: Neuroimaging, 182(1), 40–47.PubMedCrossRef

Cortopassi, G. A., Shibata, D., Soong, N. W., & Arnheim, N. (1992). A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proceedings of the National Academy of Sciences of the United States of America, 89(16), 7370–7374.PubMedCrossRef

Dager, S. R., Corrigan, N. M., Richards, T. L., & Posse, S. (2008). Research applications of magnetic resonance spectroscopy to investigate psychiatric disorders. Topics in Magnetic Resonance Imaging, 19(2), 81–96.PubMedCrossRef

Dager, S. R., Corrigan, N., Richards, T., & Shaw, D. (in press). Brain chemistry: Magnetic resonance spectroscopy. In D. Amaral, G. Dawson, & D. Geshwind (Eds.), Autism spectrum disorder. New York: Oxford University Press.

Dager, S. R., Friedman, S. D., Parow, A., Demopulos, C., Stoll, A. L., Lyoo, I. K., et al. (2004). Brain metabolic alterations in medication-free patients with bipolar disorder. Archives of General Psychiatry, 61(5), 450–458.PubMedCrossRef

Dager, S. R., Layton, M. E., Strauss, W., Richards, T. L., Heide, A., Friedman, S. D., et al. (1999). Human brain metabolic response to caffeine and the effects of tolerance. American Journal of Psychiatry, 156(2), 229–237.PubMed

Dager, S. R., Strauss, W. L., Marro, K. I., Richards, T. L., Metzger, G. D., & Artru, A. A. (1995). Proton magnetic resonance spectroscopy investigation of hyperventilation in subjects with panic disorder and comparison subjects. American Journal of Psychiatry, 152(5), 666–672.PubMed

Dager, S. R., & Steen, R. G. (1992). Applications of magnetic resonance spectroscopy to the investigation of neuropsychiatric disorders. Neuropsychopharmacology, 6(4), 249–266.PubMed

de Graaf, R. A. (2007). In vivo NMR spectroscopy: Principles and techniques (2nd ed.). Chichester, West Sussex, England: John Wiley and Sons, Ltd.CrossRef

De Volder, A., Bol, A., Michel, C., Congneau, M., & Goffinet, A. M. (1987). Brain glucose metabolism in children with the autistic syndrome: Positron tomography analysis. Brain and Development, 9(6), 581–587.PubMed

Dinopoulos, A., Cecil, K. M., Schapiro, M. B., Papadimitriou, A., Hadjigeorgiou, G. M., Wong, B., et al. (2005). Brain MRI and proton MRS findings in infants and children with respiratory chain defects. Neuropediatrics, 36(5), 290–301.PubMedCrossRef

Filiano, J., Goldenthal, M. J., Rhodes, C. H., & Marín-García, J. (2002). Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. Journal of Child Neurology, 17(6), 435–439.CrossRef

Filipek, P. A., Juranek, J., Smith, M., Mays, L. Z., Ramos, E. R., Bocian, M., et al. (2003). Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Annals of Neurology, 53(6), 801–804.PubMedCrossRef

Finsterer, J. (2009). Central nervous system imaging in mitochondrial disorders. Canadian Journal of Neurological Sciences, 36(2), 143–153.PubMedCrossRef

Friedman, S. D., Jensen, J. E., Frederick, B. B., Artru, A. A., Renshaw, P. F., & Dager, S. R. (2007). Brain changes to hypocapnia using rapidly interleaved phosphorus-proton magnetic resonance spectroscopy at 4 T. Journal of Cerebral Blood Flow and Metabolism, 27(3), 646–653.PubMedCrossRef

Friedman, S. D., Shaw, D. W. W., Artru, A. A., Dawson, G., Petropoulos, H., & Dager, S. R. (2006a). Gray and white matter brain chemistry in young children with autism. Archives of General Psychiatry, 63(7), 786–794.PubMedCrossRef

Friedman, S. D., Mathis, C. M., Hayes, C., Renshaw, P., & Dager, S. R. (2006b). Brain pH response to hyperventilation in panic disorder: Preliminary evidence for altered acid-base regulation. American Journal of Psychiatry, 163(4), 710–715.PubMedCrossRef

Friedman, S. D., Shaw, D. W., Artru, A. A., Richards, T. L., Gardner, J., Dawson, G., et al. (2003). Regional brain chemical alterations in young children with autism spectrum disorder. Neurology, 60(1), 100–107.PubMed

Gellerich, F. N., Mayr, J. A., Reuter, S., Sperl, W., & Zierz, S. (2004). The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion, 4(5–6), 427–439.PubMedCrossRef

Giulivi, C., Zhang, Y.-F., Omanska-Klusek, A., Ross-Inta, C., Wong, S., Hertz-Picciotto, I., et al. (2010). Mitochondrial dysfunction in autism. JAMA, 304(21), 2389–2396.PubMedCrossRef

Graf, W. D., Marin-Garcia, J., Gao, H. G., Pizzo, S., Naviaux, R. K., Markusic, D., et al. (2000). Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. Journal of Child Neurology, 15(6), 357–361.PubMedCrossRef

Guillemaud, R. (1998). Uniformity correction with homomorphic filtering on region of interest. IEEE ICIP, 2, 872–875.

Haas, R. H., Parikh, S., Falk, M. J., Saneto, R. P., Wolf, N. I., Darin, N., et al. (2007). Mitochondrial disease: A practical approach for primary care physicians. Pediatrics, 120(6), 1326–1333.PubMedCrossRef

Horwitz, B., Rumsey, J., Grady, C., & Rapoport, S. (1987). Interregional correlations of glucose utilization among brain regions in autistic adults. Annals of Neurology, 22(1), 118.

Kapeller, P., Fazekas, F., Offenbacher, H., Stollberger, R., Schmidt, R., Berglöff, J., et al. (1996). Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome. Journal of the Neurological Sciences, 135(2), 126–130.PubMedCrossRef

Kirby, D. M., Crawford, M., Cleary, M. A., Dahl, H. H., Dennett, X., & Thorburn, D. R. (1999). Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder. Neurology, 52(6), 1255–1264.PubMed

Kreis, R., Hofmann, L., Kuhlmann, B., Boesch, C., Bossi, E., & Hüppi, P. S. (2002). Brain metabolite composition during early human brain development as measured by quantitative in vivo 1H magnetic resonance spectroscopy. Magnetic Resonance in Medicine, 48(6), 949–958.PubMedCrossRef

Kuwabara, T., Watanabe, H., Tanaka, K., Tsuji, S., Ohkubo, M., Ito, T., et al. (1994). Mitochondrial encephalomyopathy: Elevated visual cortex lactate unresponsive to photic stimulation—A localized 1H-MRS study. Neurology, 44(3 Pt 1), 557–559.PubMed

Lin, D. D. M., Crawford, T. O., & Barker, P. B. (2003). Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR. American Journal of Neuroradiology, 24(1), 33–41.PubMed

Lombard, J. (1998). Autism: A mitochondrial disorder? Medical Hypotheses, 50(6), 497–500.PubMedCrossRef

Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223.PubMedCrossRef

Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659–685.PubMedCrossRef

Mancuso, M., Coppede, F., Migliore, L., Siciliano, G., & Murri, L. (2006). Mitochondrial dysfunction, oxidative stress and neurodegeneration. Journal of Alzheimers Disease, 10(1), 59–73.

Mathews, P. M., Andermann, F., Silver, K., Karpati, G., & Arnold, D. L. (1993). Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology, 43(12), 2484–2490.PubMed

Meister, A. (1995). Mitochondrial changes associated with glutathione deficiency. Biochimica et Biophysica Acta, 1271(1), 35–42.PubMed

Minshew, N. J., Goldstein, G., Dombrowski, S. M., Panchalingam, K., & Pettegrew, J. W. (1993). A preliminary 31P MRS study of autism: Evidence for undersynthesis and increased degradation of brain membranes. Biological Psychiatry, 33(11–12), 762–773.PubMedCrossRef

Mitochondrial Encephalopathies: Potential Relationships to Autism? (2008). Retrieved September 1, 2010 from http://www.ninds.nih.gov/news_and_events/proceedings/20090629_mitochondrial.htm.

Möller, H. E., Kurlemann, G., Pützler, M., Wiedermann, D., Hilbich, T., & Fiedler, B. (2005). Magnetic resonance spectroscopy in patients with MELAS. Journal of the Neurological Sciences, 229–230, 131–139.PubMedCrossRef

Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataíde, A., Marques, C., et al. (2005). Mitochondrial dysfunction in autism spectrum disorders: A population-based study. Developmental Medicine and Child Neurology, 47(3), 185–189.PubMedCrossRef

Petropoulos, H., Friedman, S. D., Shaw, D. W. W., Artru, A. A., Dawson, G., & Dager, S. R. (2006). Gray matter abnormalities in autism spectrum disorder revealed by T2 relaxation. Neurology, 67(4), 632–636.PubMedCrossRef

Poling, J. S., Frye, R. E., Shoffner, J., & Zimmerman, A. W. (2006). Developmental regression and mitochondrial dysfunction in a child with autism. Journal of Child Neurology, 21(2), 170–172.PubMedCrossRef

Pons, R., Andreu, A. L., Checcarelli, N., Vilà, M. R., Engelstad, K., Sue, C. M., et al. (2004). Mitochondrial DNA abnormalities and autistic spectrum disorders. Journal of Pediatrics, 144(1), 81–85.PubMedCrossRef

Posse, S., Dager, S. R., Richards, T. L., Yuan, C., Ogg, R., Artru, A. A., et al. (1997). In vivo measurement of regional brain metabolic response to hyperventilation using magnetic resonance: Proton echo planar spectroscopic imaging (PEPSI). Magnetic Resonance in Medicine, 37(6), 858–865.PubMedCrossRef

Pouwels, P. J., Brockmann, K., Kruse, B., Wilken, B., Wick, M., Hanefeld, F., et al. (1999). Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatric Research, 46(4), 474–485.PubMedCrossRef

Provencher, S. W. (1993). Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magnetic Resonance in Medicine, 30(6), 672–679.PubMedCrossRef

Rossignol, D. A., Frye, R. E. (2011). Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Molecular Psychiatry, 25. [Epub ahead of print].

Rumsey, J. M., Duara, R., Grady, C., Rapoport, J. L., Margolin, R. A., Rapoport, S. I., et al. (1985). Brain metabolism in autism. Resting cerebral glucose utilization rates as measured with positron emission tomography. Archives of General Psychiatry, 42(5), 448–455.PubMedCrossRef

Saneto, R. P., Friedman, S. D., & Shaw, D. W. W. (2008). Neuroimaging of mitochondrial disease. Mitochondrion, 8(5-6), 396–413.PubMedCrossRef

Sparks, B. F., Friedman, S. D., Shaw, D. W., Aylward, E. H., Echelard, D., Artru, A. A., et al. (2002). Brain structural abnormalities in young children with autism spectrum disorder. Neurology, 59(2), 184–192.PubMed

Thorburn, D. R., & Smeitink, J. (2001). Diagnosis of mitochondrial disorders: Clinical and biochemical approach. Journal of Inherited Metabolic Disease, 24(2), 312–316.PubMedCrossRef

Zwaigenbaum, L. (2010). Advances in the early detection of autism. Current Opinion in Neurology, 23(2), 97–102.PubMedCrossRef

Titel: Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder
Auteurs: Neva M. Corrigan
Dennis. W. W. Shaw
Todd L. Richards
Annette M. Estes
Seth D. Friedman
Helen Petropoulos
Alan A. Artru
Stephen R. Dager
Publicatiedatum: 01-01-2012
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 1/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-011-1216-y

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