Abstract
Autism is a behaviorally defined syndrome for which many etiologies have been identified, including specific viral and metabolic causes. New evidence confirms that genetic abnormalities cause the disorder in a subgroup of autistic individuals, encouraging further research to differentiate specific genetic etiological mechanisms.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Thompson MW : Genetics in Medicine, ed 4. Philadelphia, WB Saunders, 1986
Shapiro AK, Shapiro ES, Young JG, et al : Gilles de la Tourette Syndrome, ed 2. New York, Raven, 1988
Pauls DL : The familiarity of autism and related disorders: A review of the evidence, in Cohen DJ Donnellan AM(eds): Handbook of Autism and Pervasive Developmental Disorders. New York, Wiley, 1987, pp 192–198
Vogel F, Motulsky AG : Human Genetics: Problems and Approaches, ed 2, revised. Berlin, Springer-Verlag, 1986
Taft LT, Goldfarb W : Prenatal and perinatal factors in childhood schizophrenia. Dev Med Child Neurol 6:32–43, 1964
Kolvin I : Studies in the childhood psychoses. I. Diagnostic criteria and classification. Br J Psychiatry 118:381–384, 1971
Kolvin I, Garside RF, Kidd JSH : IV. Parental personality and attitude and childhood psychoses. Br J Psychiatry 118:403–406, 1971
Kolvin I, Humphrey M, McNay A : VI. Cognitive factors in childhood psychoses. Br J Psychiatry 118:415–419, 1971
Kolvin I, Ounsted C, Humphrey M, et al : II. The phenomenology of childhood psychoses. Br J Psychiatry 118:385–395, 1971
Kolvin I, Ounsted C, Richardson LM, et al : III. The family and social background in childhood psychoses. Br J Psychiatry 118:396–402, 1971
Kolvin I, Ounsted C, Roth M : V. Cerebral dysfunction and childhood psychoses. Br J Psychiatry 118:407–414, 1971
Rutt CN, Offord DR : Prenatal and perinatal complications in childhood schizophrenia and their sibships. J Nerv Mental Dis 152:324–331, 1971
Knobloch H, Pasamanick B : Some etiologic and prognostic factors in early infantile autism and psychosis. Pediatrics 55:182–191, 1975
Torrey EF, Hersh SP, McCabe KD : Early childhood psychosis and bleeding during pregnancy: A prospective study of gravid women and their offspring. J Autism Child Schizophr 5:287–297, 1975
Campbell M, Hardesty AS, Burdock EI, et al : Demographic and perinatal profile of 105 autistic children: A preliminary report. Psychopharmacol Bull 14()2):36–39, 1978
Finegan J, Quarrington B : Pre-, peri- and neonatal factors and infantile autism. J Child Psychol Psychiatry 20:119–128, 1979
Deykin EY, MacMahon B : Pregnancy delivery and neonatal complications among autistic children. Am J Dis Child 134:860–864, 1980
Gillberg C, Gillberg IC : Infantile autism: A total population study of reduced optimality in the pre-, peri-, and neonatal period. J Autism Dev Disord 13:153–166, 1983
Mason-Brothers A, Ritvo ER, Guze B, et al: J Am Acad Child Adol Psychiatry 26:39–42, 1987
Steinhausen H-C, Gobel D, Breinlinger M, et al : A community survey of infantile autism. J Am Acad Child Psychiatry 25:186–189, 1986
Tsai LY : Pre-, peri-, and neonatal factors in autism, in Schopler E Mesibov GB(eds): Neurobiological Issues in Autism. New York, Plenum, 1987, pp 179–187
Campbell M, Geller B, Small AM, et al : Minor physical anomalies in young psychotic children. Am J Psychiatry 135:573–575, 1978
Burd L, Martsolf JT, Kerbeshian J, et al : Partial 6p trisomy associated with infantile autism. Clin Genet 33:356–359, 1988
Burd L, Kerbeshian J, Fisher W, et al : A case of autism and mosaic of trisomy 8. J Autism Dev Disord 13:351–352, 1985
Maltz AD: Down’s syndrome and early infantile autism: diagnostic confusion? J Autism Dev Disord 9:453–455, 1979
Wakabayashi S : A case of infantile autism associated with Down’s syndrome. J Autism Dev Disord 9:31–36, 1979
Gillberg C, Wahlstrom J : Chromosome abnormalities in infantile autism and other childhood psychoses: A population study of 66 cases. Dev Med Child Neurol 27:293–304, 1985
Turner B, Jennings AN : Trisomy for chromosome 22. Lancet 2:49–50, 1961
Biesele JJ, Schmid W, Lawlis MG: Mentally retarded schizoid twin girls with 47 chromosomes. Lancet 1:403–405, 1962
Wenger SL, Steele MW, Becker DJ : Clinical consequences of deletion lp35. J Med Genet 25:263, 1988
Mariner R, Jackson AW III, Levitas A, et al: Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord 16:425–440, 1986
Ritvo ER, Mason-Brothers A, Menkes JH, et al : Association of autism, retinoblastoma, and reduced esterase D activity. Arch Gen Psychiatry 45:600, 1988
Jayakar P, Chudley AE, Ray M, et al: Fra(2) (ql3) and inv(9) (pi lql2) in autism: Causal relationship? Am J Med Genet 23:381–392, 1986
Hagerman RJ, Chudley AE, Knoll JH, et al : Autism in fragile X females. Am J Med Genet 23:375–380, 1986
Funderburk SJ, Spence MA, Sparkes RS : Mental retardation associated with “balanced” chromosome rearrangements. Am J Hum Genet 29:136–141, 1977
de la Barra FM, Skoknic VC, Alliende AR, et al : Gemelas con autismo y retardo mental asociado a translocacion cromosomica balanceada (7;20). Rev Chil Pediatr 57:549–554, 1986
Hansen A, Brask BH, Nielsen J, et al : A case report of an autistic girl with an extra bisatellited marker chromosome. J Autism Child Schizophr 7:263–267, 1977
Crandell BF, Carrel RE, Sparkes RS : Chromosome findings in 700 children referred to a psychiatric clinic. J Pediatr 80:62–68, 1972
Wolraich M, Bzostek B, Neu RL, et al : Lack of chromosome aberrations in autism. N Engl J Med 283:1231, 1970
Campbell M, Wolman SR, Breuer H, et al : Klinefelter’s syndrome in a three-year old severely disturbed child. J Autism Child Schizophr 2:34–48, 1972
Omitz EM, Guthrie D, Farley AH : The early development of autistic children. J Autism Child Schizophr 7:207–229, 1977
Abrams N, Pergament E : Childhood psychosis combined with XYY abnormalities. J Genet Psychol 118:13–16, 1971
Forsius H, Kaski U, Schroder J, et al : Is there a common psychopathology of XYY boys? A clinical report on three cases of XYY and one of XY/XYY. Acta Paedopsychiatr 39:28–41, 1972
Mallin SR, Walker FA : Effects of the XYY karyotype in one of two brothers with congenital adrenal hyperplasia. Clin Genet 3:490–494, 1972
Nielsen J, Christensen KR, Friedrich U, et al : Childhood of males with the XYY syndrome. J Autism Child Schizophr 3:5–26, 1973
Gillberg C, and Forsell C: Childhood psychosis and neurofibromatosis—More than a coincidence? J Autism Dev Dis 14:1–8, 1984
Turner G, Daniel A, Frost M : X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr 96:837–841, 1980
Brown WT, Friedman E, Jenkins EC, et al : Association of fragile X syndrome with autism. Lancet 1:100, 1982
Mery ash DL, Szymanski LS, Gerald PS : Infantile autism associated with the fragile-X syndrome. J Autism Dev Dis 12:295–301, 1982
Brown WT, Jenkins EC, Cohen IL, et al : Fragile X and autism: A multicenter survey. Am J Med Genet 23:341–352, 1986
Hagerman RJ, Jackson AW III, Levitas A, et al: An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 23:359–374, 1986
McGillivray BC, Herbst DS, Dill FJ, et al : Infantile autism: An occasional manifestation of fragile (X) mental retardation. Am J Med Genet 23:353–358, 1986
Wahlstrom J, Gillberg C, Gustavson K-H, et al : Infantile autism and the fragile X. A Swedish multicenter study. Am J Med Genet 23:403–408, 1986
Wright HH, Young SR, Edwards JG, et al : Fragile X syndrome in a population of autistic children. J Am Acad Child Psychiatry 25:641–644, 1986
Bolton P : Autism and the fragile X syndrome. Newsl Assoc Child Psychol Psychiatry 10()3):26–27, 1988
Crowe RR, Tsai LY, Murray JC, et al : A study of autism using X chromosome DNA probes. Biol Psychiatry 24:473–479, 1988
Gillberg C : The neurobiology of infantile autism. J Child Psychol Psychiatry 29:257–266, 1988
August GL : A genetic marker associated with infantile autism. Am J Psychiatry 140:813, 1983
Goldfine PE, McPherson PM, Heath GA, et al : Association of fragile X syndrome with autism. Am J Psychiatry 142:108–110, 1985
Judd LL, Mandell AJ : Chromosome studies in early infantile autism. Arch Gen Psychiatry 18:450–457, 1968
Hoshino Y, Yashima Y, Tachibana R, et al : Sex chromosome abnormalities in autistic children—Long Y chromosome. Fukushima J Med Sci 26:31–42, 1979
Book JA, Nichtem S, Gruenberg E: Acta Psychiatr Scand 39:309–323, 1963
Sperling K, Lackman I : Large human Y chromosome with two fluorescent bands. Clin Genet 2:352–355, 1971
Wahlstrom J: Are variations in length of Y chromosome due to structural changes? Hereditas 69:125–128, 1971
Zeuthen E, Nielsen J : Length of the Y chromosome in a general population. Acta Genet Med Gemellol 22:45–49, 1973
Bishop A, Blank CA, Hunter H : Heritable variation in the length of the Y chromosome. Lancet 2:18–20, 1962
Makino S, Muramoto J : Some observations on the variability of the human Y chromosome. Proc Jpn Acad 40:757–761, 1964
Kato T, Takagi N, Morita S : A chromosome study in seven neuropsychiatric patients with special regard to the abnormality of the Y chromosome. Jpn J Genet 40:105–112, 1965
Nielsen J : Y chromosomes in male psychiatric patients above 180 cm tall. Br J Psychiatry 114:1589–1590, 1968
Tsuchida S, Okamura T, Hayashi T : Chromosome abnormalities in the institute for mentally handicapped children. Jpn J Pediatr 73:1551, 1969
Christensen KR, Nielsen J : Incidence of chromosome aberrations in a child psychiatric hospital. Clin Genet 5:205–210, 1974
Beltran IC, Robertson FW, Page BM : Human Y chromosome variation in normal and abnormal babies and their fathers. Ann Hum Genet 42:315–325, 1979
Ballabio A, Carrozzo R, Gil A, et al : Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet 53:9–14, 1989
Sankar Siva DV : Chromosomal breakage in infantile autism. Dev Med Child Neurol 12:572–575, 1970
Gillberg C : Infantile autism and other childhood psychoses in a Swedish urban region. Epidemiological aspects. J Child Psychol Psychiatry 25:35–43, 1984
Young JG, Leven LI, Newcom JH, et al : Genetic and neurobiological approaches to the pathophysiology of autism and the pervasive developmental disorders, in Meltzer HY (ed): Psychopharmocology: The Third Generation of Progress. New York, Raven, 1987, pp 825–836
Garvey M, Mutton DE : Sex chromosome aberrations and speech development. Arch Dis Child 48:937–941, 1973
Leonard MF, Landy G, Ruddle FH, et al : Early development of children with sex chromosome abnormalities: A prospective study. Pediatrics 54:208–212, 1974
Bender L, Fry E, Pennington B, et al : Speech and language development in 41 children with sex chromosome abnormalities. Pediatrics 71:262–267, 1983
Walzer S : X chromosome abnormalities and cognitive development: Implications for understanding normal human development. J Child Psychol Psychiatry 26:177–184, 1985
Penrose LS : Contribution to the psychology and pedagogy of feeble-minded children. Special Report SeriesNo. 229. London, Medical Research Council, 1938
Martin JP, Bell J : A pedigree of mental defect showing sex-linkage. J Neurol Neurosurg Psychiatry 6:154–157, 1943
Lubs HA : A marker-X chromosome. Am J Hum Genet 21:231, 1969
Sutherland GR : Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium. Science 197:265–266, 1977
Sutherland GR : Marker X chromosomes and mental retardation. N Engl J Med 296:14–15, 1977
Chudley AE, Hagerman RJ : Fragile X syndrome. J Pediatr 110:821–831, 1987
Sutherland GA, Hecht F : Fragile Sites on Human Chromosomes. New York, Oxford University Press, 1985
Gustavson K-H, Blomquist H, Holmgren G: Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county. Am J Med Genet 23:581-587, 1986
Herbst DS, Miller J : Nonspecific X-linked mental retardation. II. The frequency in British Columbia. Am J Med Genet 7:461–470, 1980
Loesch DZ : Dermatoglyphic findings in fragile X syndrome: A causal hypothesis points to X-Y interchange. Ann Hum Genet 50:385–398, 1986
Loesch DZ : Discriminant analysis of dermatoglyphic measurements in fragile X males and females. Clin Genet 33:169–175, 1988
Langenbeck U, Varga I, Hansmann I : The predictive value of dermatoglyphic anomalies in the diagnosis of fra(X)-positive Martin-Bell syndrome (MBS). Am J Med Genet 30:169–175, 1988
Hagerman RJ, Murphy MA, Wittenberger MD : A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet 30:377–392, 1988
Wisniewski KC, French JH, Fernando S, et al : The fragile X syndrome: Associated neurological abnormalities and developmental disabilities. Ann Neurol 18:665–669, 1985
Musumeci SA, Ferri R, Colognola RM, et al : Prevalence of a novel epileptogenic EEG pattern in the Martin-Bell syndrome. Am J Med Genet 30:207–212, 1988
Fryns JP, Kleczkowska A, Van den Berghe H : The psychological profile of the fragile X syndrome. Clin Genet 25:131–134, 1984
Finelli P, Peuschel SM, Padre-Mendoza T, et al : Neurological findings in patients with the fragile-X syndrome. J Neurol Neurosurg Psychiatr 48:150–153, 1985
Largo RH, Schinzel A : Developmental and behavioral disturbances in 13 boys with Fragile-X syndrome. Eur J Pediatr 143:269–275, 1985
Bregman JD, Dykens E, Watson M, et al : Fragile-X syndrome; variability of phenotypic expression. J Am Acad Child Adol Psychiatry 26:463–471, 1987
Dykens E, Leckman J, Paul R, et al : Cognitive, behavioral, and adaptive functioning in fragile X and nonfragile X retarded men. J Autism Dev Disab 18:41–52, 1988
Hanson DM, Jackson AW III, Hagerman RJ: Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell syndrome. Am J Med Genet 23:195–206, 1986
Paul R, Dykens E, Leckman JF, et al : A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism. J Autism Dev Disord 17:457–468, 1987
Miezejeski CM, Jenkins EC, Hill AL, et al : A profile of cognitive deficit in females from fragile X families. Neuropsychology 24:405–409, 1984
Kemper MB, Hagerman RJ, Ahmad RS, et al : Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females. Am J Med Genet 23:139–156, 1986
Loesch DZ, Hay DA : Clinical features and reproductive patterns in fragile X female heterozygotes. J Med Genet 25:407–414, 1988
Wolff PH, Gardner J, Lappen J, et al : Variable expression of the fragile X syndrome in heterozygous females of normal intelligence. Am J Med Genet 30:213–225, 1988
Sherman SL, Turner G, Robinson H, et al : Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women. Am J Med Genet 30:633–639, 1988
Fryns J-P : The female and the fragile X. Am J Med Genet 23:157–169, 1986
Reiss AL, Hagerman RJ, Vinogradov S, et al : Psychiatric disability in female carriers in the fragile X chromosome. Arch Gen Psychiatry 45:25–30, 1988
Turner G, Partington MW : Fragile (X) expression, age and the degree of intellectual handicap in the male. Am J Med Genet 30:423–428, 1988
Thode A, Laing S, Partington MW, et al: Is there a fragile (X) negative Martin-Bell syndrome? Am J Med Genet 30:459–471, 1988
Hockney A, Crowhurst J : Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy. Am J Med Genet 30:61–71, 1988
Hagerman RJ, Smith ACM, Mariner R : Clinical features of the fragile X syndrome, in Hagerman RJ McBogg PM(eds): The Fragile X Syndrome: Diagnosis, Biochemistry, and Intervention. Dillon, Colorado, Spectra, 1983, pp 17–53
Paul R, Cohen D, Breg R, et al : Fragile-X syndrome: its relation to speech and language disorders. J Speech Hear Disord 49:328–332, 1984
Webb T, Butler D, Insley J, et al : Prenatal diagnosis of Martin-Bell syndrome associated with fragile site at Xq27-28. Lancet 2:1423, 1981
Jenkins EC, Brown WT, Duncan C, et al : Feasibility of fragile X chromosome prenatal diagnosis demonstrated. Lancet 2:1292, 1981
Shapiro LR, Wilnot PL, Brenholz P, et al : Prenatal diagnosis of fragile X chromosome. Lancet 1:99–100, 1982
Shapiro LR, Wilmot PL, Murphy PD, et al : Experience with multiple approaches to the prenatal diagnosis of the fragile X syndrome: Amniotic fluid, chorionic villi, fetal blood and molecular methods. Am J Med Genet 30:347–354, 1988
Lejeune J : Metabolisme des monocarbones et syndrome de l’X fragile. Bull Acad Natl Med (Paris) 165:1197–1206, 1981
Lejeune J: Is the fragile X syndrome amenable to treatment? Lancet 1:273–274, 1982
Carpenter NJ, Barber DH, Jones M, et al: Controlled six-month study of oral folic acid therapy in boys with fragile X-linked mental retardation. Am J Hum Genet 35(suppl):p. 82A, 1983 (abst 243)
Brown TW, Jenkins EC, Friedman E, et al : Folic acid therapy in boys with the fragile X syndrome. Am J Med Genet 17:289–297, 1984
Brown TW, Cohen IL, Fisch GS, et al : High dose folic acid treatment of fragile (X) males. Am J Med Genet 23:263–271, 1986
Froster-Iskenius U, Bodeker K, Oepen T, et al : Folic acid treatment in males and females with fragile-(X)-syndrome. Am J Med Genet 23:273–289, 1986
Hagerman RJ, Jackson AW, Levitas A, et al : Oral folic acid versus placebo in the treatment of males with the fragile X syndrome. Am J Med Genet 23:241–262, 1986
Wells TE, Madison LS : Assessment of behavior change in a fragile-X syndrome male treated with folic acid. Am J Med Genet 23:291–296, 1986
Rudelli RD, Brown WT, Wisniewski K, et al : Adult fragile X syndrome: Clinico-pathologic findings. Acta Neuropathol (Berl) 67:289–295, 1985
Venter PA, Hof JO, Coetzee DJ : The Martin-Bell syndrome in South Africa. Am J Med Genet 23:597–610, 1986
Hagerman R, Berry R, Jackson AW III, et al : Institutional screening for the fragile X syndrome. Am J Dis Child 142:1216–1221, 1988
Fisch GS, Cohen IL, Jenkins EC, et al : Screening developmentally disabled male populations for fragile X: The effect of sample size. Am J Med Genet 30:655–663, 1988
Gillberg C, Wahlstrom J, Hagberg B : Infantile autism and Rett’s syndrome: Common chromosomal denominator. Lancet 2:1094–1095, 1984
Gillberg C: Autism and Rett syndrome: Some notes on differential diagnosis. Am J Med Genet 24:127–131, 1986
Witt-Engerstrom I, Gillberg C : Rett syndrome in Sweden. J Autism Dev Disord 17:149–150, 1987
Sherman SL, Morton NE, Jacobs P, et al : The marker (X) syndrome; a cytogenetic and genetic analysis. Ann Hum Genet 48:21–37, 1984
Sherman SL, Jacobs PA, Morton NE, et al : Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289–299, 1985
Nussbaum RL, Airhart SD, Ledbetter DH, et al : Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: An hypothesis. Am J Med Genet 23:715–721, 1986
Berger R, Bloomfield CD, Sutherland GR : Report of the committee on chromosome rearrangements in neoplasia and on fragile sites: 8th international workshop on human gene mapping. Cytogenet Cell Genet 40:490–535, 1985
Ledbetter SA, Ledbetter DH : A common fragile site at Xq27: Theoretical and practical implications. Am J Hum Genet 42:694–702, 1988
Pembrey ME, Winter RM, Davies KE : A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet 23:709–718, 1986
Laird CD : Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. Genetics 117:587–599, 1987
Laird CD : Fragile-X mutation proposed to block complete reactivation in females of an inactive X chromosome. Am J Med Genet 30:693–696, 1988
Laird C, Jafife E, Karpen G, et al : Fragile sites in human chromosomes as regions of late-replication DNA. Trends Genet 3:274–281, 1987
Fryns J-P, Van den Berghe H : Inactivation pattern of the fragile X in heterozygous carriers. Am J Med Genet 30:401–406, 1988
Wilhelm D, Froster-Iskenius U, Paul J, et al : Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation. Am J Med Genet 30:407–415, 1988
Warren ST : Fragile X syndrome: A hypothesis regarding the molecular mechanism of the phenotype. Am J Med Genet 30:681–688, 1988
Rumsey JM, Denckla MB : Neurobiological research priorities in autism, in Schopler E Mesibov GB(eds): Neurobiological Issues in Autism. New York, Plenum, 1987, pp 43–57
Jaeken J, Van den Berghe G : An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2:1058–1061, 1984
Stubbs G, Litt M, Lis E, et al : Adenosine deaminase activity decreased in autism. J Am Acad Child Psychiatry 21:71–74, 1982
Coleman M, Landgrebe MA, Landgrebe AR : Purine autism: Hyperuricosuria in autistic children; does this identify a subgroup of autsim? in Coleman M (ed): The Autistic Syndromes. Amsterdam, North-Holland, 1976, pp 183–195
Coleman M, Blass JP : Autism and lactic acidosis. J Autism Dev Disord 15:1–8, 1985
Nyhan WL, James JA, Teberg AJ, et al : A new disorder of purine metabolism with behavioral manifestations. J Pediatr 74:20–27, 1969
Becker MA, Raivo KO, Bakay B, et al : Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest 65:109–120, 1980
Gruber HE, Jansen I, Willis RC, et al : Alterations of inosinate branchpoint enzymes in cultured human lymphoblasts. Biochim Biophys Acta 846:135–144, 1985
Kotsopoulos S, Kutty KM : Histidinemia and infantile autism. J Autism Dev Disord 9:55–60, 1979
Creak EM : Childhood psychosis: A review of 100 cases. Br J Psychiatry 109:84–89, 1963
Kratter FE : The physiognomic, psychometric, behavioral and neurological aspects of phenylketonuria. J Ment Sci 439:421–427, 1959
Lewis E : The development of concepts in a girl after dietary treatment for phenylketonuria. Br J Med Psychol 32:282–287, 1959
Hackney IM, Hanley WB, Davidson W, et al : Phenylketonuria: Mental development, behavior, and termination of low phenylalanine diet. J Pediatr 72:646–655, 1968
Friedman E : The “autistic syndrome” and phenylketonuria. Schizophrenia 1:249–261, 1969
Bliumina MG : A schizophrenic-like variant of phenylketonuria. Zh Nevropatrol Psikhiatr 75:1525–1529, 1975
Lowe TL, Tanaka K, Seashore MR, et al : Detection of phenylketonuria in autistic and psychotic children. JAMA 243:126–128, 1980
Williams RS, Hauser SL, Purpura DP, et al : Autism and mental retardation: Neuropathologic studies performed in four retarded persons with autistic behavior. Arch Neurol 37:749–753, 1980
Pueschel SM, Herman R, Groden G : Brief report: Screening children with autism for fragile-X syndrome and phenylketonuria. J Autism Dev Disord 15:335–338, 1985
Paul R, Cohen DJ, Volkmar FR : Autistic behaviors in a boy with Noonan syndrome. J Autism Dev Disord 13:433–434, 1983
Taft LT, Cohen HJ : Hypsarrhythmia and infantile autism: A clinical report. J Autism Child Schizophr 1:327–336, 1971
Lotter V : Factors related to outcome in autistic children. J Autism Child Schizophr 4:263–277, 1974
Mansheim P : Tuberous sclerosis and autistic behavior. J Clin Psychiatry 40:97–98, 1979
Hunt A : Tuberous sclerosis: A survey of 97 cases. I. Seizures, pertussis immunisation and handicap. Dev Med Child Neurol 25:346–349, 1983
Hunt A : Tuberous sclerosis: A survey of 97 cases. II. Physical findings. Dev Med Child Neurol 25:350–352, 1983
Hunt A : Tuberous sclerosis: A survey of 97 cases. III. Family aspects. Dev Med Child Neurol 25:353–357, 1983
Curatolo P : Autism and infantile spasms in children with tuberous sclerosis. Dev Med Child Neurol 29:550, 1987
Lawlor BA, Maurer RG : Tuberous sclerosis and the autistic syndrome. Br J Psychiatry 150:396–397, 1987
Oliver BE : Tuberous sclerosis and the autistic syndrome. Br J Psychiatry 151:560, 1987
Leland H : Some psychological characteristics of phenylketonuria. Psychol Rep 3:373–376, 1957
Sutherland BS, Berry HK, Shirkey HC : A syndrome of phenylketonuria with normal intelligence and behavior disturbance. J Pediatr 57:521, 1960
Bjomson J : Behavior in phenylketonuria: Case with schizophrenia. Arch Gen Psychiatry 10:65–70, 1964
Young JG, Cohen DJ, Caparulo BK, et al: Am J Psychiatry 136:1055–1057, 1979
Young JG, Cohen DJ, Shaywitz BA, et al : in Maas J (ed): MHPG in Psychopathology. Orlando, Florida, Academic, 1982, pp 193–218
Hanson DR, Gottesman II : The genetics, if any, of infantile autism and childhood schizophrenia. J Autism Child Schizophr 6:209–234, 1976
Galton F : The history of twins as a criterion of the relative powers of nature and nurture. Popular Science Monthly 8:345–357, 1875
Falconer DS : The heritability of liability to certain diseases estimated from the incidence among relatives. Ann Hum Genet 29:51–76, 1965
Allen G, Harvald B, Shields J : Measures of twin concordance. Acta Genet Stat Med (Basel) 17:475–481, 1967
Smith C : Concordance in twins: Methods and interpretation. Am J Hum Genet 26:454–466, 1974
Gottesman II, Carey G : Extracting meaning and direction from twin data. Psychiatr Dev 1:35–50, 1983
Stabenau JR : Heredity and environment in schizophrenia: The contribution of twin studies. Arch Gen Psychiatry 18:458–463, 1968
Chapman H : Early infantile autism in identical twins. Arch Neurol Psychiatry 78:621–623, 1957
Ward TF, Hoddinott BA : Early infantile autism in fraternal twins: A case report. Can Psychiatr Assoc J 7:191–195, 1962
Vaillant GE : Twins discordant for early infantile autism. Arch Gen Psychiatry 9:163–167, 1963
Rimland B : Infantile Autism. New York, Appleton-Century-Crofts, 1964
Kamp LNJ : Autistic Syndrome in one of a pair of monozygotic twins. Psychiatr Neurol Neurochir 67:143–147, 1964
Rutter M : Psychotic disorders in early childhood, in Coppen A Walk A(eds): Recent Developments in Schizophrenia. Br J Psychiatry, Special PublicationNo. 1, pp 133–155
Kallman FJ, Roth B : Genetic aspects of preadolescent schizophrenia. Am J Psychiatry 112:559–606, 1956
Kean JM : The development of social skills in autistic twins. NZ Med J 81:204–207, 1975
McQuaid PE : Infantile autism in twins. Br J Psychiatry 127:530–534, 1975
Kotsopoulos S : Infantile autism in dizygotic twins: A case report. J Autism Child Schizophr 6:133–138, 1976
Sloan JL : Differential development of autistic symptoms in a pair of fraternal twins. J Autism Child Schizophr 8:191–202, 1978
Wessels WH, Pompe van Meerdervoort M : Monozygotic twins with early infantile autism: A case report. S Afr Med J 55:955–957, 1979
Salimi Eshkevari H : Early infantile autism in monozygotic twins. J Autism Dev Disord 9:105–109, 1979
Salimi Eshkevari H : Infantile autism in monozygotic twins. J Am Acad Child Psychiatry 24:643–646, 1985
Gillberg C, Ohlson V-A, Wahlstrom J, et al : Monozygotic female twins with autism and the fragile-X syndrome (AFRAX). J Child Psychol Psychiatry 29:447–451, 1988
Silliman ER, Campbell M, Mitchell RS : Genetic influences in autism and assessment of metalinguistic performance in siblings of autistic children, in Dawson G (ed): Autism. New York, Guilford, 1989, pp 225–259
Ritvo ER, Brothers AM, Freeman B J, et al: Eleven possibly autistic parents. (Letter.)J Autism Dev Disord 18:139–147, 1988
Folstein S, Rutter M : Infantile autism: A genetic study of 21 twin pairs. J Child Psychol Psychiatry 18:297–331, 1977
Folstein SE : Genetic aspects of infantile autism. Annu Rev Med 36:415–419, 1985
Folstein SE, Rutter ML : Autism: Familial aggregation and genetic implications. J Autism Dev Disord 18:3–30, 1988
Rutter M, Bartak L, Newman S : Autism—A central disorder of cognition and language? in Rutter M (ed): Infantile autism: Concepts, Characteristics, and Treatment. Edinburgh, Churchill-Livingstone, 1971, pp 148–171
Bartak L, Rutter M, Cox A : A comparative study of infantile autism and specific developmental language disorder. I. The children. Br J Psychiatry 126:127–145, 1975
Bartak L, Rutter M, Cox A : A comparative study of infantile autism and specific developmental receptive language disorders. III. Discriminant function analysis. J Autism Child Schizophr 7:383–396, 1977
Campbell M, Dominijanni C, Schneider B : Monozygotic twins concordant for infantile autism: Follow-up. Br J Psychiatry 131:616–622, 1977
Campbell M, Minton J, Green WH, et al : Siblings and twins of autistic children, in Perris C Struwe G Jansson B(eds): Biological Psychiatry 1981. Elsevier, North-Holland, 1981, pp 993–996
Campbell M, Fish B, Shapiro T, et al : A twin study of preschoolage autistic children (manuscript submitted ) Presented at the 27th Annual Meeting of the American Academy of Child Psychiatry, Chicago, Oct. 15-19, 1980
Shell J, Campion JF, Minton J, et al : A study of three brothers with infantile autism: A case report with follow-up. J Am Acad Child Psychiatry 26:480–484, 1984
Ritvo ER, Freeman BJ, Mason-Brothers A, et al : Concordance for the syndrome of autism in 40 pairs of afflicted twins. Am J Psychiatry 142:74–77, 1985
Ritvo ER, Spence MA, Freeman BJ, et al : Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism. Am J Psychiatry 142:187–192, 1985
Ritvo ER, Mason-Brothers A, Jenson WP, et al : A report of one family with four autistic siblings and four families with three autistic siblings. J Am Acad Child Adol Psychiatry 26:339–341, 1987
Morton NE : Segregation and linkage, in Burdette WJ (ed): Methodology in Human Genetics. San Francisco, Holden Day, 1962, pp 17–52
Jones MB, Szatmari P : Stoppage rules and genetic studies of autism. J Autism Dev Disord 18:31–40, 1988
Brookfield JFY, Pollitt RJ, Young ID : Family size limitation: A method for demonstrating recessive inheritance. J Med Genet 25:181–185, 1988
Tsai LY, Stewart MA : Etiological implication of maternal age and birth order in infantile autism. J Autism Dev Disord 13:57–65, 1983
Ritvo ER, Freeman BJ, Pingree C, et al : The UCLA-University of Utah epidemiologic survey of autism: Prevalence. Am J Psychiatry 146:194–199, 1989
Bryson SE, Clark BS, Smith IM : First report of a Canadian epidemiological study of autistic syndromes. J Child Psychol Psychiatry 29:433–445, 1988
Brask BH : A prevalence investigation of childhood psychoses, in Nordic Symposium on the Comprehensive Care of the Psychotic Children. Oslo, Norway, Bamespsykiatrisk Forening-Norge, 1972, pp 145–153
Cialdella P, Mamelle N : An epidemiological study of infantile autism in a French department (Rhone): A research note. J Child Psychol Psychiatry 30:165–175, 1989
McCarthy P, Fitzgerald M, Smith MA : Prevalence of childhood autism in Ireland. Irish Med J 77:129–130, 1984
Haga H, Miyamoto H : A survey on the actual state of so-called autistic children in Kyoto prefecture. Jpn J Child Psychiatry 12:160–167, 1971
Nakai K : A survey of so-called autistic children in Gifu prefecture. Jpn J Child Psychiatry 12:262–266, 1971
Yamazaki K, Yamashita I, Suwa N, et al : Survey on the morbidity rate of “autistic children” in the Hokkaido district. Jpn J Child Psychiatry 12:141–149, 1971
Hoshino Y, Kumashiro H, Yashima Y, et al : The epidemiological study of autism in Fukushima-ken. Folia Psychiatr Neurol Jpn 36:115–124, 1982
Matsuishi T, Shiotsuki Y, Yoshimura K, et al : High prevalence of infantile autism in Kurume City, Japan. J Child Neurol 2:268–271, 1987
Tanoue Y, Oda S, Asano F, et al : Epidemiology of infantile autism in southern Ibaraki, Japan: Differences in prevalence in birth cohorts. J Autism Dev Disord 18:155–166, 1988
Bohman M, Bjorck P-O, Bohman I-L, et al : Bamdomspsykosema—forsummade handikapp? Epidemiologi och habilitering i ett glesbygdslan. Lakartidningen 78:2361–2364, 1981
Bohman M, Bohman IL, Bjorck PO, et al : Childhood psychosis in a northern Swedish county: Some preliminary findings from an epidemiological survey, in Schmidt MH Remschmidt H(eds): Epidmiological Approaches in Child Psychiatry, Vol. II. International Symposium, Mannheim, 1981. Stuttgart, West Germany, Georg Thieme Verlag, 1983, pp 164–173
Steffenburg S, Gillberg C : Autism and autistic-like conditions in Swedish rural and urban areas: A population study. Br J Psychiatry 149:81–87, 1986
Lotter V : Epidemiology of autistic conditions in young children. I. Prevalence. Social Psychiatry 1:124–137, 1966
Wing L, Yeates SR, Brierley LM, et al : The prevalence of early childhood autism: Comparison of administrative and epidemiological studies. Psychol Med 6:89–100, 1976
Wing L, Gould J : Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. J Autism Dev Disord 9:11–29, 1979
Treffert DA : Epidemiology of infantile autism. Arch Gen Psychiatry 22:431–438, 1970
Burd L, Fisher W, Kerbeshian J : A prevalence study of pervasive developmental disorders in North Dakota. J Am Acad Child Adol Psychiatry 26:700–703, 1987
American Psychiatric Association : Diagnostic and Statistical Manual, ed 3. Washington, D.C., American Psychiatric Association, 1980
American Psychiatric Association : Diagnostic and Statistical Manual, ed 3, revised. Washington, D.C., American Psychiatric Association, 1987
Shapiro T, Sherman M, Calamari G, et al : Attachment in Autism and other developmental disorders. J Am Acad Child Adol Psychiatry 28:74–81, 1987
Sigman M, Mundy P : Social attachments in autistic children. J Am Acad Child Adol Psychiatry 28:74–81, 1989
Wing L : Language, social, and cognitive impairments in autism and severe mental retardation. J Autism Dev Disord 11:31–44, 1981
Young JG, Newcom JH, Leven LI : Pervasive developmental disorders, in Kaplan HI Sadock BJ(eds): Comprehensive Textbook of Psychiatry, ed 5. Baltimore, Williams & Wilkins, 1989, pp 1772–1787
Cohen DJ, Paul R, Volkmar FR: Issues in the classification of pervasive and other developmental disorders: Towards DSM-IV. J Am Acad Child Adol Psychiatry 25:213–220, 1986
Tanguay PE, Asamow R : Schizophrenia in Children, in Michels R Cavenar JO(eds): Psychiatry, Vol. 2. Philadelphia, JB Lippincott, 1988
Cohen DJ, Caparulo B, Shaywitz B : Primary childhood aphasia and childhood autism. J Am Acad Child Psychiatry 15:604–645, 1976
Paul R, Cohen DJ, Caparulo BK : A longitudingal study of patients with severe developmental disorders of language learning. J Am Acad Child Psychiatry 22:525–534, 1983
Eisenberg L, Kanner L: Early infantile autism 1943-1953. Am J Orthopsychiatry 26:556–566, 1956
Whittam H, Simon GB, Mittler PJ : The early development of psychotic children and their sibs. Dev Med Child Neurol 8:552–560, 1966
Havelkova M : Abnormalities of siblings of schizophrenic children. Can Psychiatr Assoc J 12:363–367, 1967
August GL, Stewart MA, Tsai L : The incidence of cognitive disabilities in the siblings of autistic children. Br J Psychiatry 138:416–422, 1981
Minton J, Campbell M, Green WH, et al : Cognitive assessment of siblings of autistic children. J Am Acad Child Psychiatry 21:256–261, 1982
Baird TD, August GJ : Familial heterogeneity in infantile autism. J Autism Dev Disord 15:315–321, 1985
Wing L : Asperger’s syndrome: A clinical account. Psychol Med 11:115–130, 1981
Schopler E : Convergence of learning disability, higher-level autism, and Asperger’s syndrome. J Autism Dev Disord 15:359–360, 1985
Freeman BJ, Ritvo ER, Mason-Brothers A, et al : Psychometric assessment of first-degree relatives of 62 autistic probands in Utah. Am J Psychiatry 146:361–364, 1989
Woolf CM, Stephens FE, Mulaik DD, et al : An investigation of the frequency of consanguineous marriages among the Mormons and their relatives in the United States. Am J Hum Genet 8:236–252, 1956
McLellan T, Jorde LB, Skolnick MH : Genetic distances between the Utah Mormons and related populations. Am J Hum Genet 36:836–857, 1984
Prizant BM : Language acquisition and communicative behavior in autism: Toward an understanding of the “whole” of it. J Speech Hearing Disord 48:296–307, 1983
Sherman M, Shaprio T, Glassman M : Play and language in developmentally disordered preschoolers: A new approach to classification. J Am Acad Child Psychiatry 22:511–524, 1983
Lotter V : Epidemiology of autistic conditions in young children. II. Some characteristics of the parents and children. Social Psychiatry 1:163–173, 1967
Wing L : Sex ratios in early childhood autism and related conditions. Psychiatry Res 5:129–137, 1981
Tsai LY, Beisler JM : The development of sex differences in infantile autism. Br J Psychiatry 142:373–378, 1983
Lewis EO : Report on an investigation into the incidence of mental deficiency in six areas. 1925-1927,in Report of the Mental Deficiency Committee. Part IV. London, His Majesty’s Stationery Office, 1929
Abramowicz HK, Richardson SA : Epidemiology of severe mental retardation in children: Community studies. Am J Ment Defic 80:18–39, 1975.
Tsai L, Stewart MA, August G : Implication of sex differences in the familial transmission of infantile autism. J Autism Dev Disord 11:1 6 5 –1 7 3, 1981
Lord C, Schopler E : Brief report: Differences in sex ratios in autism as a function of measured intelligence. J Autism Dev Disord 15:185–193, 1985
Taylor D, Ounsted C : The nature of gender differences explored through ontogenetic analyses of sex ratios in disease, in Ounsted D Taylor DC(eds): Gender Differences: their Ontogeny and Significance. London, Churchill Livingstone, 1972, pp 215–240
Lord C. Schopler E : Neurobiological implications of sex differences in autism, in Schopler E Mesibov GB (eds): Neurobiological Issues in Autism. New York, Plenum, 1987, pp 191–211
Lord C, Schopler E, Revicki D : Sex differences in autism. J Autism Dev Disord 12:317–330, 1982
Schain RJ, Freedman DX : Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children. J Pediatr 58:315–320, 1961
Goldberg TE, Maltz A, Bow JN, et al : Blink rate abnormalities in autistic and mentally retarded children: Relationship to dopaminergic activity. J Am Acad Child Adol Psychiatry 26:336–338, 1987
Ritvo ER, Creel D, Realmuto G, et al : Electroretinograms in autism: A pilot study of b-wave amplitudes. Am J Psychiatry 145:229–232, 1988
White RL : Human genetics. Lancet 2:1257–1262, 1984
White RL : Diagnosis when the gene locus is unknown. Hosp Pract 20:103–112, 1985
White R : DNA sequence polymorphisms revitalize linkage approaches in human genetics. Trends Genet 1:177–181, 1985
White R, Caskey CT : The human as experimental system in molecular genetics. Science 240:1483–1488, 1988
White R, Lalouel J-M : Chromosome mapping with DNA markers. Sci Am 258:40–48, 1988
Lathrop GM, Lalouel JM, Julier C, et al : Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 37:482–498, 1985
Kidd KK : Research design considerations for linkage studies of affective disorders using recombinant DNA markers. J Psychiatr Res 21:551–557, 1987
Spence MA, Ritvo ER, Marazita ML, et al : Gene mapping studies with the syndrome of autism. Behav Genet 15:1–13, 1985
Camerino G, Mattei MG, Mattei JF, et al : Close linkage of fragile X linked mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (Lond) 306:701–707, 1983
Winter RM, Pembrey ME : Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of transmitting males. Hum Genet 74:93–97, 1986
Brown WT, Gross AC, Chan CB, et al : DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity. Am J Med Genet 23:643–664, 1986
Brown WT, Jenkins EC, Gross AC, et al : Further evidence for genetic heterogeneity in the fragile X syndrome. Hum Genet 75:311–321, 1987
Brown WT, Gross A, Chan C, et al : Multilocus analysis of the fragile X syndrome. Hum Genet 78:201–205, 1988
Clayton JF, Gosden CM, Hastie ND, et al : Linkage heterogeneity and fragile X. Hum Genet 78:338–342, 1988
Thibodeau SN, Dorkins HR, Faulk KR, et al : Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome. Hum Genet 79:219–227, 1988
Damasio H, Maurer RG, Damasio AR, et al : Computerized tomographic scan findings in patients with autistic behavior. Arch Neurol 37:504–510, 1980
Campbell M, Rosenbloom S, Perry R, et al : Computerized axial tompgraphy in young autistic children. Am J Psychiatry 139:510–512, 1982
Harcherik DF, Cohen DJ, Ort S, et al : Computed tomographic brain scanning in four neuropsychiatric disorders of childhood. Am J Psychiatry 142:731–734, 1985
Jacobson R, Le Couteur A, Howlin P, et al : Selective subcortical abnormalities in autism. Psychol Med 18:39–48, 1988
Rumsey JM, Creasey H, Stepanek JS, et al : Hemispheric asymmetries, fourth ventricular size, and cerebellar morphology in autism. J Autism Dev Disord 18:127–137, 1988
Gaffney GR, Tsai LY : Brief report: Magnetic resonance imaging of high level autism. J Autism Dev Disord 17:433–438, 1987
Gaffney GR, Kuperman S, Tsai LY, et al : Midsagittal magnetic resonance imaging of autism. Br J Psychiatry 151:831–833, 1987
Gaffney GR, Tasi LY, Kuperman S, et al : Cerebellar structure in autism. Am J Dis Child 141:1330–1332, 1987
Courchesne E, Hesselink JR, Jemigan TL, et al : Abnormal neuroanatomy in a nonretarded person with autism. Arch Neurol 44:335–341, 1987
Courchesne E, Yeung-Courchesne R, Press GA, et al : Hypoplasia of cerebellar vermal lobules VI and VII in autism. N Engl J Med 318:1349–1354, 1988
Garber HJ, Ritvo ER, Chiu LC, et al : A magnetic resonance imaging study of autism: Normal fourth ventricle size and absence of pathology. Am J Psychiatry 146:532–534, 1989
Horowitz B, Rumsey JM, Grady CL, et al : The cerebral metabolic landscape in autism: Intercorrelations of regional glucose utilization. Arch Neurol 45:749–755, 1988
Rumsey JM, Duara R, Grady C, et al: Arch Gen Psychiatry 42:448–455, 1985
Heh CWC, Smith R, Wu J, et al : Positron emission tomography of the cerebellum in autism. Am J Psychiatry 146:242–245, 1989
De Voider A, Bol A, Michel C, et al : Brain glucose metabolism in children with the autistic syndrome: Positron tomography analysis. Brain Dev 9:581–587, 1987
De Voider AG, Bol A, Michel C, et al : Metabolisme cerebral du glucose chez les enfants autistes: Etude em tomographie par emission de positrons. Acta Neurol Belg 88:75–90, 1988
Ogawa T, Sugiyama A, Ishiwa S, et al: Brain Dev 4:439–449, 1982
Martineau J, Bruneau M, Garreau B, et al : Clinical and biological markers in autistic syndromes. Electroencephalogr Clin Neurophysiol 67(suppl):87P, 1987
Martineau J, Bruneau N, Garreau, et al : Interêt des marqueurs cliniques et biologiques dans les syndromes autistiques de 1’enfant. Rev EEG Neurophysiol Clin 17:159–167, 1987
Omitz EM : Neurophysiology of infantile autism. J Am Acad Child Psychiatry 24:251–262, 1985
Garreau B, Bruneau N, Roux S, et al : Study of the auditory function in infantile autism with electrophysiological data. Electroencephalogr Clin Neurophysiol 67(suppl):87p–88P, 1987
Rosenhall U, Johansson E, Gillberg C : Oculomotor findings in autistic children. J Laryngol Otol 102:435–439, 1988
Ritvo ER, Creel D, Realmuto G, et al : Electroretinograms in autism: A pilot study of b-wave amplitudes. Am J Psychiatry 145:229–232, 1988
Courchesne E, Lincoln AJ, Kilman BA, et al: J Autism Dev Disord 15:55–76, 1985
Oades RD, Walker MK, Geffen LB, et al : Event-related potentials in autistic and healthy children on an auditory choice reaction time task. Int J Psychophysiol 6:25–37, 1988
Kuperman S, Beeghly J, Bums T, et al : Association of serotonin concentration to behavior and IQ in autistic children. J Autism Develop Disord 17:133–140, 1987
Badcock NR, Spence JG, Stem LM : Blood serotonin levels in adults, autistic and non-autistic children— With a comparison of different methodologies. Ann Clin Biochem 24:625–634, 1987
Yuwiler A, Freedman DX : Neurotransmitter research in autism, in Schopler E Mesibov GB(eds): Neurobiological Issues in Autism. New York, Plenum, 1987, pp 263–284
Geller E, Yuwiler A, Freeman BJ, et al : Platelet size, number, and serotonin content in blood of autistic, childhood schizophrenic, and normal children. J Autism Dev Disord 18:119–126, 1988
Anderson GM, Freedman DX, Cohen DJ, et al : Whole blood serotonin in autistic and normal subjects. J Child Psychol Psychiatry 28:885–900, 1987
Anderson GM : Monoamines in autism: An update of neurochemical research on a pervasive developmental disorder. Med Biol 65:67–74, 1987
Cohen DJ, Shaywitz BA, Caparulo B, et al : Chronic, multiple tics of Gilles de la Tourette’s disease: CSF acid monoamine metabolites after probenicid administration. Arch Gen Psychiatry 35:245–250, 1978
Gillberg C, Svennerholm L, Hamilton-Hellberg C : Childhood psychosis and monoamine metabolites in spinal fluid. J Autism Dev Disord 13:383–396, 1983
Young JG, Cohen DJ, Caparulo BK, et al : Decreased 24-hr urinary MHPG in childhood autism. Am J Psychiatry 136:1055–1057, 1979
Gillberg C, Terenius L, Lonnerholm G : Endorphin activity in childhood psychosis: Spinal fluid levels in 24 cases. Arch Gen Psychiatry 42:780–783, 1985
Weizman R, Weizman A, Tyano S, et al : Humoral endorphin blood levels in autistic, schizophrenic and healthy subjects. Psychopharmacology 82:368–370, 1984
Weizman R, Gil-Ad I, Dick J, et al : Low plasma immunoreactive B-endophin levels in autism. J Am Acad Child Adol Psychiatry 27:430–433, 1988
Deutsch SI, Campbell M, Sachar EJ, et al: J Autism Dev Disord 15:205–212, 1985
Hoshino Y, Yokoyama F, Watanabe M, et al : The diurnal variation and response to dexamethasone suppression test of saliva cortisol level in autistic children. Jpn J Psychiatr Neurol 41:227–236, 1987
Todd RD, Ciaranello RD : Demonstration of inter- and intraspecies differences in serotonin binding sites by antibodies from an autistic child. Proc Natl Acad Sci USA 82:612–616, 1985
Todd RD, Hickok JM, Anderson GM, et al : Antibrain antibodies in infantile autism. Biol Psychiatry 23:644–647, 1988
Weizman A, Weizman R, Szekely GA, et al: Am J Psychiatry 139:1462–1465, 1982
Warren RP, Foster A, Margaretten NC : Reduced natural killer cell activity in autism. J Am Acad Child Adol Psychiatry 26:333–335, 1987
Stubbs G : Shared parental HLA antigens and autism. Lancet 2:534, 1981
Stubbs EG, Ritvo ER, Mason-Brothers A : Autism and shared parental HLA antigens. J Am Acad Child Psychiatry 24:182–185, 1985
Omitz EM, Atwell CW, Kaplan AR : Brain-stem dysfunction in autism: Results of vestibular stimulation. Arch Gen Psychiatry 42:1018–1025, 1985
Goldberg TE, Maltz A, Bow JN, et al : Blink rate abnormalities in autistic and mentally retarded children: Relationship to dopaminergic activity. J Am Acad Child Adol Psychiatry 26:336–338, 1987
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 Plenum Publishing Corporation
About this chapter
Cite this chapter
Young, J.G., Brasic, J.R., Leven, L. (1990). Genetic Causes of Autism and the Pervasive Developmental Disorders. In: Deutsch, S.I., Weizman, A., Weizman, R. (eds) Application of Basic Neuroscience to Child Psychiatry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0525-5_12
Download citation
DOI: https://doi.org/10.1007/978-1-4613-0525-5_12
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4612-7849-8
Online ISBN: 978-1-4613-0525-5
eBook Packages: Springer Book Archive