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. 2009 Mar 10:2:7-13.
doi: 10.2147/tacg.s4683. Print 2009.

The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

Arie J Stam  1 , Patricia F Schothorst, Jacob As Vorstman, Wouter G Staal
Affiliations

The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

Arie J Stam et al. Appl Clin Genet. .

Abstract

Autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are classified as distinct disorders within the DSM-IV-TR (1994). The manual excludes simultaneous use of both diagnoses in case of overlap on a symptomatic level. However this does not always represent clinical observations and findings of previous studies. This review explores the genetic basis of the phenomenological overlap between ADHD and ASD. Based on an extensive review of twin-, linkage-, association studies, and reported structural genomic abnormalities associated with these disorders, we have identified seventeen regions on the human genome that can be related to both disorders. These regions of shared genetic association are: 2q35, 3p14, 4p16.1, 4p16.3, 5p15.31, 5p15.33, 7p12.3, 7p22, 7q21, 8q24.3, 14q12, 15q11-12, 16p13, 17q11, 18q21-23, 22q11.2, Xp22.3. The presented data are of interest for future genetic studies and appear to suggest the existence of a phenotype partition that may differ from the current classification of psychiatric disorders.

Keywords: ADHD; autism; genetic; overlap.

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Figures

Figure 1
Figure 1
The genetic overlap of ADHD and ASD. Notes: This figure shows 24 human chromosomes. On the left side of each chromosome the results of genetic studies on ADHD are provided. On the right side of each chromosome the genetic findings on ASD are given. Linkage studies are represented by black dotted horizontal lines. Association studies are indicated by blue dotted horizontal lines. Cytogenetic studies are vertical lines in the colors green, orange and red. A green line represents a region described by one study. An orange line represents a region described by two, three our four studies. A red line represents a region described by five or more studies. Regions containing overlap in genetic findings associated to both ASD and ADHD are accentuated by a red box surrounding the region of interest. All data included in this figure are exactly positioned. Further details can be found in Table 1. Abbreviations: ADHD, attention deficit hyperactivity disorder; ASD, autistic spectrum disorders.
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