Assessment of Metabolic Parameters For Autism Spectrum Disorders

Rao, Mr AN and Koch, M and Suresh Kumar, V and Ghosh, S and Shobha, G (2009) Assessment of Metabolic Parameters For Autism Spectrum Disorders. [Journal (On-line/Unpaginated)]

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Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain. Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, and severely restricted interests and highly repetitive behavior. The reported incidence of autism spectrum disorders (ASDs) has increased markedly over the past decade. The Centre for Disease Control and Prevention has recently estimated the prevalence of ASDs in the United States at approximately 5.6 per 1000 (1 of 155 to 1 of 160) children. Several metabolic defects, such as phenylketonuria, are associated with autistic symptoms. In deciding upon the appropriate evaluation scheme a clinician must consider a host of different factors. The guidelines in this article have been developed to assist the clinician in the consideration of these factors.

Item Type:Journal (On-line/Unpaginated)
Keywords:Autism, Biomarkers, Immunology, Metabolic profile
Subjects:JOURNALS > Online Journal of Health and Allied Sciences
ID Code:6556
Deposited By: Kakkilaya Bevinje, Dr. Srinivas
Deposited On:02 Jul 2009 01:46
Last Modified:11 Mar 2011 08:57

References in Article

Select the SEEK icon to attempt to find the referenced article. If it does not appear to be in cogprints you will be forwarded to the paracite service. Poorly formated references will probably not work.

1.Fillipek PA, Accardo PJ, Baranek GT, Cook Jr. EH, Dawson G, Gordon B, Gravel JS, Johnson CP, Kellen RJ, Levy SE, Tuchman RF, Volkmar FR. The screening and diagnosis of autism spectrum disorders. Journal of Autism and Developmental Disorders 1999;29(2):439-484.

2.Yeargin-Allsopp M, Rice C, Karapurkar T, Doernberg N, Boyle C, Murphy C. Prevalence of Autism in U.S metropolitan area. Journal of the American Medical Association. 2003 Jan 1;289(1):49-55

3.Volkmar FR. Medical Problems, Treatments, and Professionals. In: Powers MD, ed. Children with Autism: A Parent’s Guide, Second Edition. Bethesda, MD: Woodbine House, 2000;73-74.

4.Coleman M, Brass JP. Autism and lactic acidosis. Journal of autism and developmental disorders 1985;15:1-8

5.Reichelt KL, Saelid G, Lindback T. Childhood autism: A complex disorder. Biological Psychiatry 1986;21:1279-1290

6.Simmonds HA, Duley JA, Fairbanks LD, McBride MB. When to investigate for pure and pyrimidine disorders. Introduction and review of clinical and laboratory indications 1997;20(2):214-226

7.Goodwin MS, Cowen MA, Goodwin TC. Malabsobtion and cerebral dysfunction. A multivariate and comparative study of autistic children J Autism Child Schizophr 1971;1(1):48-62

8.Yao Y, Walsh WJ, McGinnis WR, Pratico D. Altered vascular phenotype in Autism: correlation with oxidative stress. Arch Neurol. 2006 Aug;63(8):1161-64.

9.James SJ, Melnyk S, Jernigan S, Cleves MA, Halsted CH, Wong DH, Cutler P, Bock K, Bradstreet JJ, Baker SM, Gaylor DW. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with Autism. Am J Med Genet B Neuropsychiatr Genet. 2006;141:947-956.

10.James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, Neubrander JA. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr. 2004 Dec;80(6):1611-7

11.Bradstreet, JJ et al. A Case Control study of Mercury Burden in Children with Autistic Spectrum Disorders. Journal of American Physicians and Surgeons. 2003;8(3):76—79

12.Nataf R, Skorupka C, Amet L, Lam A, Springbett A, Lathe R. Porphyrinuria in childhood autistic disorder: implications for environmental toxicity. Toxicol Appl Pharmacol. 2006 Jul 15;214(2):99-108. Epub 2006 Jun16.

13.Jyonouchi H, Geng L, Ruby A,Zimmerman -Bier B. Dysregulated innate immune responses in young children with autism spectrum disorders : their relationship to gastrointestinal symptoms and dietary intervention. Neourophyschobiology. 2005;51(2):77-85

14.Balzola L, Barbon V, Repici A, Rizzetto M, Clauser D, Gandione M, Sapino A. Panenteri IBD-like diseasein a patient with regressive autism shown for the first time by the wireless capsule enteroscopy: another piece in the jigsaw of this gut-brain syndrome? Am J Gastroenterol. 2005 Apr;100(4);979-81

15.Ashwood P, Anthony A, Torrente F, Wakefield AJ. Spontaneous mucosal leucocyte cytokine profiles in children with autism and gastrointestinal functions: mucosal immune activation and reduced counter regulatory interleukin-10. J Clin Immunol. 2004 Nov;24(6):664-73

16.Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and meuroinflammation in the brain of patients with autism. Ann Neurol. 2005 Jan;57 (1):67-81. Erratum in: Ann Neurol.2005 Feb;57(2):304.

17.Ito H, Mori K, Hashimoto T, Miyazaki M, Hori A, Kagami S, Kuroda Y. Findings of brain 99m-Tc-ECD SPECT in high functioning autism-3-dimensional stereotactic ROI template analysis of brain SPECT. J Med Invest. 2005;52(1-2):49-56.

18.Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Chairman T. Prevence of the disorders of the autism spectrum in a population cohort of children in south Thames: the Special Needs and Autism Project (SNAP). Lancet 2006 Jul 15;368:210-5.

19.Morbidity and mortality weekly. Mental health in the United States: Parental report of Diagnosed Autism in children aged 4-17 years. United States, 2003-2004. May 5, 2006;55(17);482-486.

20.James SJ, Melnyk S, Jernigan S, Cleves MA et al. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am. J. of Genetics Part B (Neuropsychiatric Genetics). 2006;141:1-10.

21.Seetharam B. Receptor mediated endocytosis of cobalamin. Annu. Rev Nutr. 1999;19:173-195.

22.Afman LA, Lievens KJ, Van der Put NM, Trijbels FJ, Blom HJ.Single nucleotide polymorphisms in the transcobalamin gene: Relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet. 2002;10:433-438.

23.Miller JW, Ramos MI, Garrod MG, Flynn MA, Green R. Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 2002;100:718-720.

24.Mosharov E,Cranford MR, Banerjeee R. The quantitatively important relationship between homocysteine metabolism and glutathione synthesis by the transulfuration pathway and its regulation by redox changes. Biochemistry 2000;39:13005-13011.

25.Nieoullon A.Dopamine and the regulation of cognition and attention. Prog Neurobiol. 2002;67:53-83.

26.Chen JS, Lipsika BK, Halim N,Ma QD, Matsumoto M,Melhem S, Kolachana BS, Hyde TM, Herman MM. Apud J, Egan MF, Kleiman JE, Weinberger DR. Functional analysis of genetic variation in catechol-o-methyltransferase (COMT). Effects on MRNA, protein and enzyme activity in postmortem human brain. Am J Hum Genet. 2004;75:807-821.

27.Blasi G, Mattay VS, Bertolino A, Elvevag B, Calliott JH, Das S, Kolachana BS,Egan MF, Goldberg TE, Weinberg DR. Effect of Catechl-o-methyltransferase val158met genotype on attention control. J Neurosci. 2005;25:5038-5045.

28.Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Golman D, Weinberger DR. Effect of COMT Val 108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA. 2001;98:6917-6922.

29.Diamond A, Briand L, Fossella J, Gehlbach L. Genetic and neurochemical modulation of prefrontal cognitive functions in children. Am. J Psychiatry 2004;161:125-132.

30.International Molecular Genetic Study of Autism Consortium. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet. 1998;7(3):571 –578

31.Atamna H, Boyle K. Amyloid-beta peptide binds with heme to form a peroxidase: Relationship to the cytopathologies of Alzheimer’s disease. PNAS 2006;103;3381–6.

32.Sokol DK, Chen D, Farlow MR, Dunn DW, Maloney B, Zimmer JA, Lahiri DK. High levels of Alzheimer beta-amyloid precursor protein (APP) in children with severely autistic behavior and aggression. J Child Neurol 2006 Jun;21(6):444–9.

33.Woods JS. Altered porphyrin metabolism as a biomarker of mercury exposure and toxicity. Can J Physiol Pharmacol 1996;74 (2):210–5.

34.Nataf R, Skorupka C, Amet L, Lam A, Springbett A, Lathe R. Porphyrinuria in childhood autistic disorder: implications for environmental toxicity. Toxicol Appl Pharmacol 2006;214(2):99–108.

35.Gupta S. Immunological treatments for autism. J Autism Dev Disord. 2000;30(5):475-9.

36.Jyonouchi H, Sun S, Le H. Pro inflammatory and regulatory cytokine production associated with innate and adaptive immune responses in children with autism spectrum disorders and developmental regression. J Neuroimmunol. 2001;120(1-2):170-9.

37.Baird G, Charman T, Baron-Cohen S, Cox A, Sweetenham J, Wheelwright S, Drew A. A screening instrument for autism at 18 months of age: A 6-Year follow up study. Journal of the American Academy of Children and Adolescent Psychiatry. 2000;39:694-702.

38.Robbins DL, Flein D, Barton ML, Green JA. The modified checklist for autism in toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders 2001;31(2):149-151.

39.Stone WL, Coonrod EE, Ousley OY. Brief report: screening tool for autism in two-year-olds (STAT): development and preliminary data. Journal of autism and Developmental Disorders 2000;30(6):607-612.

40.Berument SK, Rutter M, Lord C, Pickles A, Bailey A. Autism screening questionnaire: diagnostic validity. British Journal of Psychiatry 1999;175:444-451.

41.Fillipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook Jr. EH, Dawson G, Gordon B, Gravel JS, Johnson CP, Kellen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW,Tuchman RF, Volkmar FR. The screening and diagnosis of autism spectrum disorders. Journal of Autism and Developmental Disorders 1999;29(2):439-484.

42.Fombonne E. The prevalence of autism. JAMA 2003;289:87-89.

43.Mental health in the United States; parental report of diagnosed autism in children aged 4-17 years- United States, 2003-2004. MMWR. Morbid Mortal Wkly Rep 2006;55:481-486.

44.Lotspeich LJ, Ciaranello RD. The neurobiology and genetics of infantile autism. Int Rev Neurobiol 1993;35:87-129.

45.Whiteley P, Shattock P. Biochemical aspects in autism spectrum disorders: updating the opioid excess theory and presenting new opportunities for biomedical intervention. Expert Opin Ther Targets 2002;6(2):175-83.

46.Isik Gorker, Umran Tuzun. Autistic like findings associated with a urea cycle disorder in a 4- year old girl. J Psychiatry Neurosci 2005;30(2):133-135

47.American Psychiatric association. Diagnostic and Statistical manual of mental disorders. 4th ed. Washington: The Association; 1994.

48.Spade M, Guardamagna O, Rabier D, Van der Meer SB, Parvy P, Bardet J, et al. Recurrent episodes of bizarre behaviour in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests. J Pediatr 1994;125(2):249-51.

49.James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999;70:495–501.

50.Stern LL, Shane B, Bagley PJ, Nadeau M, Shih V, Selhub J. Combinedmarginal folate and riboflavin status affect homocysteine methylation incultured immortalized lymphocytes from persons homozygous for the MTHFR C677T mutation. J Nutr. 2003;133:2716–2720.

51.Beagle B, Yang TL, Hung J, Cogger EA, Moriarty DJ, Caudill MA. The glycine N-methyltransferase (GNMT) 1289 C->T variant influences plasma total homocysteine concentrations in young women after restricting folate intake. J Nutr 2005;135:2780–2785.

52.Castel-Dunwoody KM, Kauwell GP, Shelnutt KP, Vaughn JD, Griffin ER, Maneval DR, Theriaque DW, Bailey LB. Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism. Am J Clin Nutr. 2005;81:1436–1441.

53.Gottesman II, Gould TD. The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry. 2003;160:636–645.

54.Connolly AM, Chez MG, Pestronk A, Arnold ST, Mehta S, Deuel RK. Serum autoantibodies to brain in Landau- Kleffner variant, autism, and other neurological disorders. J Pediatr. 1999;134(5):607-13

55.Sweeten TL, Posey DJ, McDougle CJ. Blood monocyte count and neopterin levels in children with autistic disorder. Am J Psychiatry. 2003;160(9):1691-3

56.Messahel S, Pheasant AE, Pall H, Ahmed Choudhury J, Sungum- Paliwal RS, Vostanis P. Urinary levels of neopterin and biopterin in autism. Neurosci Lett. 1998;241(1):17-20.

57.Kim JW, Grant JE, Kim SI, Swanson TA, Bernstein GA, Jaszcz WB, Williams KA, Schlievert PM. A possible association of recurrent streptococcal infections and acute onset f obsessive-compulsive disorder. J Neuropsychiatry Clin Neurosci. 2004;16(3):252-60.

58.Chauhan A, Chauhan V. Oxidative stress in autism. Pathophysiology. 2006 Aug;13(3):171-81.

59.Filipek PA, Juranek J, Nguyen MT, Cummings C, Garguss JJ. Relative carnitine deficiency in autism. J Autism Dev Discord. 2004 Dec;34(6):5615-23

60.Svoboda P, Maekawa M, Kawai K, Tominaga T, Savela K, Kasai H. Urinary 8-hydroxyguanine may be a better marker of oxidative stress than 8-hydroxydeoxyguanosine in relation to the life spans of various species. Antioxid Redox signal. 2006 May-Jun;8(5-6):985-92.

61.Ming X, Stein TP, Brimacombe M, Johnson WG, Lambert GH, Wagner GC. Increased excretion of a lipid peroxidation biomarker in autism. Prostaglandins Leukot Essent Fatty Acids. 2005;73(5):379-84

62.D’Eufemia P, Celli M, Finocchiaro R, Pacifico L, Viozzi L, Zaccagnini M, Cardi E, Giardini O. Abnormal intestinal permeability in children with autism. Acta Paediatr.1996;85(9):1076-9.

63.Trifiletti RR, Packard AM. Metabolic disorders presenting with behavioral symptoms in the school aged child. Child Adolesc Psychiatr Clin N Am 1999;8(4):791-806


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