Genetic/metabolic conditions associated with autism

Neurolipidosis
  • Creak M (1963) Childhood psychosis: A review of 100 cases. British Journal of
    Psychiatry 109:84-89.
  • Darby JK. Neuropathologic aspects of psychosis in children. J Autism Child
    Schizophr. 1976 Dec;6(4):339-52.

Tuberous sclerosis
  • Fisher W, Kerbeshian J, Burd L, Kolstoe P. Tuberous sclerosis and autism. Dev
    Med Child Neurol. 1986 Dec;28(6):814-5.
  • Bolton PF, Griffiths PD (1997) Association of tuberous sclerosis of temporal lobes
    with autism and atypical autism. Lancet 349(9049):392-395
  • Webb DW, Fryer AE, Osborne JP (1996) Morbidity associated with tuberous
    sclerosis: a population study. Developmental Medicine and Child Neurology 38:
    146-55
  • Griffiths PD, Martland TR (1997) Tuberous Sclerosis Complex: the role of
    neuroradiology. Neuropediatrics 28:244-52.
  • Crino PB, Henske EP (1999) New developments in the neurobiology of the
    tuberous sclerosis complex. Neurology 53:1384-90.
  • Bolton PF, Park RJ, Higgins JN, Griffiths PD, Pickles A. Neuro-epileptic
    determinants of autism spectrum disorders in tuberous sclerosis complex. Brain.
    2002 Jun;125(Pt 6):1247-55.

Neurofibromatosis
  • Gaffney GR, Kuperman S, Tsai LY, Minchin S. (1989) Forebrain structure in
    infantile autism. J Am Acad Child Adolesc Psychiatry. 1989 Jul;28(4):534-7.
  • Gaffney GR, Kuperman S, Tsai LY, Minchin S, Hassanein KM (1987a) Midsagittal
    magnetic resonance imaging of autism. Br J Psychiatry. 1987 Dec;151:831-3.
  • Gaffney GR, Tsai LY, Kuperman S, Minchin S (1987b) Cerebellar structure in
    autism. Am J Dis Child. 1987 Dec;141(12):1330-2.
  • Gillberg C, Coleman M. Autism and medical disorders: a review of the literature.
    Dev Med Child Neurol. 1996 Mar;38(3):191-202.

Phenylketonuria (PKU)
  • Lowe TL, Tanaka K, Seashore MR, Young JG, Cohen DJ. Detection of
    phenylketonuria in autistic and psychotic children. JAMA. 1980 Jan 11;243(2):126-
    8.
  • Williams RS, Hauser S, Purpura DP, deLong GR, Swisher CN. Autism and mental
    retardation: Neuropathologic studies performed in four retarded persons with
    autistic behavior.  Arch Neurol. 1980 Dec;37(12):749-53.
  • Chen CH, Hsiao KJ. A Chinese classic phenylketonuria manifested as autism. Br J
    Psychiatry. 1989 Aug;155:251-3.
  • Miladi N, Larnaout A, Kaabachi N, Helayem M, Ben Hamida M. Phenylketonuria:
    an underlying etiology of autistic syndrome. A case report. J Child Neurol. 1992
    Jan;7(1):22-3.
  • Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I. Biochemical, clinical and
    neuroradiological (MRI) correlations in late-detected PKU patients. J Inherit Metab
    Dis. 1995;18(5):624-34.

Fragile X syndrome
  • Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, French
    J. Autism is associated with the fragile-X syndrome. J Autism Dev Disord. 1982
    Sep;12(3):303-8.
  • Folstein SE, Rutter ML Autism: familial aggregation and genetic implications. J
    Autism Dev Disord. 1988 Mar;18(1):3-30.

Chromosomal disorders
  • Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, Lazar G,
    Mazet P, Pinquier C, Verloes A, Heron D. Specific genetic disorders and autism:
    clinical contribution towards their identification. J Autism Dev Disord. 2005 Feb;35
    (1):103-16.
  • Benvenuto A, Manzi B, Alessandrelli R, Galasso C, Curatolo P. Recent advances
    in the pathogenesis of syndromic autisms. Int J Pediatr. 2009;2009:198736. Epub
    2009 Jun 21.
  • Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman
    R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric
    symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann
    Neurol. 2009 Dec;66(6):771-82.

Seizure disorder/ neurologic injury
  • Chugani HT, Da Silva E, Chugani DC. Infantile spasms: III. Prognostic implications
    of bitemporal hypometabolism on positron emission tomography. Ann Neurol.
    1996 May;39(5):643-9.
  • daSilva EA, Chugani DC, Muzik O, Chugani HT. Landau-Kleffner syndrome:
    metabolic abnormalities in temporal lobe are a common feature. J Child Neurol.
    1997 Nov;12(8):489-95.

Leber's Congenital Amaurosis
  • Rogers SJ, Newhart-Larson S. Characteristics of infantile autism in five children
    with Leber's congenital amaurosis. Dev Med Child Neurol. 1989 Oct;31(5):598-
    608.
  • Malamud N. Heller's disease and childhood schizophrenia.  Am J Psychiatry. 1959
    Sep;116:215-8.

Adenylosuccinate Lyase Defect
  • Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the
    presence of succinylpurines in body fluids. Lancet. 1984 Nov 10;2(8411):1058-61.
  • Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA,
    Theunissen PM, de Cock P, van den Bergh F, Vincent MF, et al.
    Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur
    J Pediatr. 1988 Nov;148(2):126-31.
  • Barshop BA, Alberts AS, Gruber HE. Kinetic studies of mutant human
    adenylosuccinase. Biochim Biophys Acta. 1989 Nov 9;999(1):19-23.
  • Van den Berghe G, Vincent MF, Jaeken J. Inborn errors of the purine nucleotide
    cycle: adenylosuccinase deficiency.  J Inherit Metab Dis. 1997 Jun;20(2):193-202.

Lactic Acidosis
  • Coleman M, Blass JP. Autism and lactic acidosis. J Autism Dev Disord. 1985 Mar;
    15(1):1-8.
  • Philippart M. Clinical recognition of Rett syndrome. Am J Med Genet Suppl. 1986;
    1:111-8.
  • Lombard J. Autism: a mitochondrial disorder? Med Hypotheses. 1998 Jun;50(6):
    497-500.

Krebs Cycle (aerobic metabolism) Defects
  • Shaw W, Kassen E, Chaves E. Increased urinary excretion of analogs of Krebs
    cycle metabolites and arabinose in two brothers with autistic features. Clin Chem.
    1995 Aug;41(8 Pt 1):1094-104.

Mitochondrial (aerobic metabolism) Disorders
  • Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA,
    Courchesne E, Haas RH. Autism associated with the mitochondrial DNA G8363A
    transfer RNA(Lys) mutation. J Child Neurol. 2000 Jun;15(6):357-61
  • .Fillano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J Mitochondrial dysfunction
    in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD
    syndrome. J Child Neurol. 2002 Jun;17(6):435-9.

Moebius Syndrome
  • Moebius PJ. Über angeborenen doppelseitige Abducens-Facialis-Laemung.  
    Münchener Medizinische Wochenschrift. 1888; 35: 91-94.
  • Gilles FH. Selective symmetrical neuronal necrosis of certain brain stem
    tegmental nuclei in temporary cardiac standstill [Abstract of presentation at the
    American Association of Neuropathologists: 38th Annual Meeting. Atlantic City.
    New Jersey]. J Neuropathol Exp Neurol 1963 Apr; 22(2):318.
  • Gillberg C, Steffenburg S (1989) Autistic behaviour in Moebius syndrome.  Acta
    Paediatrica Scandinavica 78:314-316.
  • Miller MT, Stromland K. The möbius sequence: a relook. J AAPOS. 1999 Aug;3(4):
    199-208.
  • Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C. Autism
    with ophthalmologic malformations: the plot thickens. Trans Am Ophthalmol Soc.
    2004;102:107-20

Intestinal Disorders
  • Wakefield AJ, Murch SH, Anthony A, Linnell J, Casson DM, Malik M, Berelowitz M,
    Dhillon AP, Thomson MA, Harvey P, Valentine A, Davies SE, Walker-Smith JA.
    Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive
    developmental disorder in children. Lancet. 1998 Feb 28;351(9103):637-41.
    Partial retraction in: Murch SH, Anthony A, Casson DH, Malik M, Berelowitz M,
    Dhillon AP, Thomson MA, Valentine A, Davies SE, Walker-Smith JA. Lancet. 2004
    Mar 6;363(9411):750.
  • Genuis SJ, Bouchard TP. Celiac disease presenting as autism. J Child Neurol.
    2010 Jan;25(1):114-9.

Other metabolic anomalies
  • Kuhara T, Ohse M, Inoue Y, Shinka T. Five cases of beta-ureidopropionase
    deficiency detected by GC/MS analysis of urine metabolome. J Mass Spectrom.
    2009 Feb;44(2):214-21.

Prenatal exposure to alcohol and/or other drugs
  • Nanson JL. Autism in fetal alcohol syndrome: a report of six cases. Alcohol Clin
    Exp Res. 1992 Jun;16(3):558-65.
  • Harris SR, MacKay LL, Osborn JA. Autistic behaviors in offspring of mothers
    abusing alcohol and other drugs: a series of case reports. Alcohol Clin Exp Res.
    1995 Jun;19(3):660-5.
  • Aronson M, Hagberg B, Gillberg C. Attention deficits and autistic spectrum
    problems in children exposed to alcohol during gestation: a follow-up study. 1997
    Sep;39(9):583-7.
  • Church MW, Eldis F, Blakley BW, Bawle EV. Hearing, language, speech,
    vestibular, and dentofacial disorders in fetal alcohol syndrome. Alcohol Clin Exp
    Res. 1997 Apr;21(2):227-37.
  • Christianson AL, Chesler N, and Kromberg JGR  Fetal valproate syndrome:  
    clinical and neuro-developmental features in two sibling pairs. Dev Med Child
    Neurol. 1994 Apr;36(4):361-9.
  • Williams PG, Hersh JH. A male with fetal valproate syndrome and autism. Dev
    Med Child Neurol. 1997 Sep;39(9):632-4.
  • Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH. Fetal valproate
    syndrome and autism: additional evidence of an association. Dev Med Child
    Neurol. 2001 Mar;43(3):202-6.
  • Stromland K, Nordin V, Miller M, Akerstrom B, and Gillberg C (1994) Autism in
    thalidomide embryopathy:  a population study.  Developmental Medicine and
    Child Neurology 36:351-356.

Infectious Encephalitis

Rubella
  • Desmond MM, Montgomery JR, Melnick JL, Cochran GG, Verniaud W. Congenital
    rubella encephalitis. Effects on growth and early development. Am J Dis Child.
    1969 Jul;118(1):30-1.
  • Chess S (1971) Autism in children with congenital rubella. J Autism Child
    Schizophr. 1971 Jan-Mar;1(1):33-47.
  • Chess S, Fernandez P, Korn S. Behavioral consequences of congenital rubella. J
    Pediatr. 1978 Oct;93(4):699-703.
  • Townsend JJ, Wolinsky JS, Baringer JR. Progressive rubella panencephalistis:
    Late onset after congenital rubella. N Engl J Med. 1975 May 8;292(19):990-3.
  • Weil ML, Itabashi H, Cremer NE, Oshiro L, Lennette EH, Carnay L. Chronic
    progressive panencephalitis due to rubella virus simulating subacute sclerosing
    panencephalitis. N Engl J Med. 1975 May 8;292(19):994-8.

Herpes simplex
  • DeLong GR, Bean SC, Brown FR. Acquired reversible autistic syndrome in acute
    encephalopathic illness in children. Arch Neurol. 1981 Mar;38(3):191-4.
  • Gillberg C. Brief report: onset at age 14 of a typical autistic syndrome.  A case
    report of a girl with herpes simplex encephalitis. J Autism Dev Disord. 1986 Sep;16
    (3):369-75.
  • Gillberg IC. Autistic syndrome with onset at age 31 years: herpes encephalitis as
    a possible model for childhood autism. Dev Med Child Neurol. 1991 Oct;33(10):
    920-4.
  • Ghaziuddin M, Tsai LY, Eilers L, Ghaziuddin N. Brief report: autism and herpes
    simplex encephalitis. J Autism Dev Disord. 1992 Mar;22(1):107-13.
  • Greer MK, Lyons-Crews M, Mauldin LB, Brown FR 3rd. A case study of the
    cognitive and behavioral deficits of temporal lobe damage in herpes simplex
    encephalitis. J Autism Dev Disord. 1989 Jun;19(2):317-26.

Epstein-Barr virus
  • Domachowske JB, Cunningham CK, Cummings DL, Crosley CJ, Hannan WP,
    Weiner LB. Acute manifestations and neurologic sequelae of Epstein-Barr virus
    encephalitis in children. Pediatr Infect Dis J. 1996 Oct;15(10):871-5.

Cytomegalovirus
  • Sweeten TL, Posey DJ, McDougle CJ. Brief report: autistic disorder in three
    children with cytomegalovirus infection. J Autism Dev Disord. 2004 Oct;34(5):583-
    6.

Other viral infections
  • Thivierge J. A case of acquired aphasia in a child. Journal of Autism and
    Developmental Disorders 1986; 16:507-12.
  • Barak Y, Kimhi R, Stein D, Gutman J, Weizman A. Autistic subjects with comorbid
    epilepsy: a possible association with viral infections. Child Psychiatry Hum Dev.
    1999 Spring;29(3):245-51.