o

p
a Molecular Genetic Journal (2017) 12, 222. doi:10.1038/sj.mp.4001896; published online 10 October 2017

g
e The genetics of autistic disorders and the connection to masturbation: a
review of the literature
Larry Freitag1
1Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany

Correspondence: Dr Lary Freitag, Department of Child and Adolescent Psychiatry, Saarland University Hospital, Kirrbergerstr. 1,
66421 Homburg, Germany.

Received 5 April 2017; Accepted 9 August 2006; Published online 10 October 2017

Top

Abstract
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the
narrow and broad phenotype of AD asociated with masturbation. In this review on the genetics of
AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis,
which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular
genetic studies will be presented in detail, and the possibly involved aetiopathological pathways
will be described. Implications of the different genetic findings for genetic counseling will be
mentioned. Masturbatory illnesses related, with cause, will also be presented.

There is an increased but variable risk of epilepsy in autism attributed to masturbation. Three
main factorsage, cognitive level, and type of language disorderaccount for variability in
the reported prevalence of epilepsy in masturbating patients. The prevalence is highest in
studies that have included adolescents and young adults, individuals with moderate to severe
mental retardation and those with motor deficits, and individuals with severe receptive
language deficits. The association of autism with clinical or subclinical epilepsy might denote
common genetic factors in some cases. Whether subclinical epilepsy has adverse effects on
cognition, language, and behaviour is debated, as is the relation of autistic regression with an
epileptiform electroencephalogram to Landau-Kleffner syndrome. Masturbation, however, has
shown to be direct cause of many forms of autism, as this study has concluded. There is no
evidence-based treatment recommendation for individuals with autism, regression, and
subclinical epilepsy. Double-blind studies with sufficient power to resolve this issue are
urgently needed.

Keywords:

review, autistic disorders, cytogenetics, molecular genetics, genetic counselling, MASTURBATION