Autistic disorder is a heterogeneous disorder. The majority of the cases are idiopathic, and only a small number of the autistic children have associated secondary diagnosis. This article reports 2 children with mitochondrial disorders associated with autistic disorder fulfilling the diagnostic criteria of the American Psychiatric Association Manual of Psychiatric Diseases, 4th edition, and briefly reviews the literature on autistic disorder associated with mitochondrial disorders.
Graf WD, Marin-Garcia J., Gao HG, et al. Autism associated with the mitochondrial DNA G8363A transfer RNA (Lys) mutation. J Child Neurol.2000;15:357-361.
2.
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;17:435-439.
3.
Pons R., Andreu AL, Checcarelli N., et al. Mitochondrial DNA abnormalities and autistic spectrum disorders . J Pediatr.2004; 144:81-85.
4.
Lerman-Sagie T., Leshinsky-Silver E., Watemberg N., Lev D.Should autistic children be evaluated for mitochondrial disorders?J Child Neurol.2004;19:379-381.
5.
Olivera G., Diogo L., Grazina M., et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol.2005;47:185-189.
6.
American Psychiatric Association.Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association; 1994.
7.
Schopler E., Reichler RJ, Renner BRThe Childhood Autism Rating Scale (CARS). Los Angeles, Calif: Western Psychiatrical Services; 1988.
Lord C., Risi S., Lambrecht L., et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disorder.2000;30:205-223.
10.
Musumeci O. , Naini A., Slonim AE, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001; 56:849-855.
11.
Felipek PA, Accardo PJ, Ashwal S., et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy and the Child Neurology Society. Neurology. 2000;55:468-479.
12.
Folstein SE , Rosen-Sheiddley B.Genetics of autism: complex etiology for a heterogeneous disorder. Nature Rev Genet.2001; 2:943-955.
13.
Fombonne E.Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. 2003;33:365-382.
14.
Tuchman R., Rapin I.Epilepsy in autism. Lancet Neurol.2002; 1:352-358.
15.
Martin-Garcia J., Ananthakrishnan R., Goldenthal MJ, et al. Skeletal muscle mitochondrial defects in nonspecific neurologic disorders. Pediatr Neurol.1999;21:538-542.
16.
Poling JS, Frye RE, Shoffner J., Zimmerman AWDevelopmental regression and mitochondrial dysfunction in a child with autism . J Child Neurol.2006;21:170-172.
17.
Laszlo A., Horvath E., Eck E., Fekete M.Serum serotonin, lactate and pyruvate levels in infantile autistic children . Clin Chim Acta. 1994;229:205-207.
18.
Filipek AP, Juranek J., Smith M., et al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol.2003;53:801-804.
19.
Barkovich AJ , Good WV, Koch TK, Berg BOMitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol.1993;14:1119-1137.
20.
Valanne L., Ketonen L., Majander A., et al. Neuroradilogic findings in children with mitochondrial disorers . AJNR Am J Neuroradiol.1998;369-377.
21.
Dinopoulos A., Cecil KM, Schapiro MB, et al. Brain MRI and proton MRS findings in infants and children with respiratory chain defects. Neuropediatrics.2005;36:290-301.