Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Mar 9;14(3):677.
doi: 10.3390/genes14030677.

The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations

Ann Genovese  1 , Merlin G Butler  1
Affiliations
Review

The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations

Ann Genovese et al. Genes (Basel). .

Abstract

Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. The etiology of ASD involves a complex interplay between inheritance and environmental factors influenced by epigenetics. Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and metabolic disturbances involving neuronal growth and dendritic spine profiles. An estimated 50% of individuals with ASD are diagnosed with chromosome deletions or duplications (e.g., 15q11.2, BP1-BP2, 16p11.2 and 15q13.3), identified syndromes (e.g., Williams, Phelan-McDermid and Shprintzen velocardiofacial) or single gene disorders. Behavioral and psychiatric conditions in autism impacted by genetics influence clinical evaluations, counseling, diagnoses, therapeutic interventions and treatment approaches. Pharmacogenetics testing is now possible to help guide the selection of psychotropic medications to treat challenging behaviors or co-occurring psychiatric conditions commonly seen in ASD. In this review of the autism spectrum disorder, behavioral, psychiatric and genetic observations and associations relevant to the evaluation and treatment of individuals with ASD are discussed.

Keywords: autism spectrum disorder; behavior; genetic defects and associations; medical conditions; pharmacogenetics; psychiatry.

PubMed Disclaimer

Conflict of interest statement

There are no conflict of interest by the authors.

Figures

Figure 1
Figure 1
The relative frequencies of diagnoses in the combined ASD (n = 5694) and non-ASD (n = 4657) patient cohorts presenting for genetic services and laboratory testing using ultra-high-resolution chromosomal microarray analysis (reprinted with permission from Ho et al. [10]).
Figure 2
Figure 2
Pie chart showing the top ten genetic findings using ultra-high-resolution chromosomal microarrays from a large cohort of over 10,000 consecutive patients presenting for genetic services and laboratory testing with neurodevelopmental disorders affecting brain function and/or structure problems of unknown cause with developmental/intellectual disabilities and/or ASD with data previously summarized by Ho et al. [10] (reprinted with permission from Genovese and Butler [11]).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. World Health Organization ICD-11: International Classification of Diseases (11th Revision) 2019. [(accessed on 30 October 2022)]. Available online: https://icd.who.int/
    1. Kapp S.K., Gillespie-Lynch K., Sherman L.E., Hutman T. Deficit, difference, or both? Autism Neurodivers. Dev. Psychol. 2013;49:59–71. doi: 10.1037/a0028353. - DOI - PubMed
    1. Genovese A., Ellerbeck K. Autism Spectrum Disorder: A Review of Behavioral and Psychiatric Challenges Across the Lifespan. SN Compr. Clin. Med. 2022;4:217. doi: 10.1007/s42399-022-01302-1. - DOI
    1. Rosen T.E., Mazefsky C.A., Vasa R.A., Lerner M.D. Co-occurring psychiatric conditions in autism spectrum disorder. Int. Rev. Psychiatry. 2018;30:40–61. doi: 10.1080/09540261.2018.1450229. - DOI - PubMed
    1. Matson J.L., Cervantes P.E. Commonly studied comorbid psychopathologies among persons with autism spectrum disorder. Res. Dev. Disabil. 2014;35:952–962. doi: 10.1016/j.ridd.2014.02.012. - DOI - PubMed

Grants and funding

This research received no external funding.