What genetic disorders are associated with schizophrenia, autism spectrum disorder (ASD), and epilepsy?

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From the Guidelines

Genetic disorders such as Smith–Magenis syndrome, Phelan–McDermid syndrome, 1q21.1 deletion, 15q11.1–q13.3 duplication, and 18q12.1 deletion often link schizophrenia, autism spectrum disorder, and epilepsy. These genetic conditions involve disruptions to genes that regulate neurodevelopment and synaptic function, creating vulnerability across these neuropsychiatric conditions 1.

Key Genetic Disorders

  • Smith–Magenis syndrome
  • Phelan–McDermid syndrome (SHANK3, 22q.13.3 deletion)
  • 1q21.1 deletion
  • 15q11.1–q13.3 duplication
  • 18q12.1 deletion Several genetic syndromes, including TSC, Rett syndrome, and fragile X syndrome, as well as mutations such as those in the neurexin family (CNTNAP2), are characterized by a high rate of ASD and epilepsy 1. A possible reason for such a large phenotypic overlap could be that both ASD and epilepsy represent disorders of synaptic plasticity, with mechanisms that result in an imbalance of excitation and inhibition.

Implications for Prognosis and Screening

Early identification of genetic mutations that place children with ASD at higher risk of epilepsy also has tremendous implications for prognosis, allowing for more-intensive services, such as those targeting adaptive skills or language development, in children with epilepsy-associated genetic mutations 1. The effects of epilepsy on brain development support the need for studies to investigate the effect of epilepsy prevention on developmental outcomes in syndromes that confer a high risk of epilepsy and ASD, such as TSC 1.

From the Research

Genetic Disorders Linked to Schizophrenia, Autism Spectrum Disorder, and Epilepsy

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder that has been linked to an increased risk of developing autism spectrum disorder (ASD), epilepsy, and other neuropsychiatric symptoms, including schizophrenia-like symptoms 2, 3, 4, 5.
  • TSC is caused by mutations in the TSC1 or TSC2 gene, and patients with TSC2 mutations are more likely to develop ASD and epilepsy 2, 3, 4.
  • The relationship between TSC, ASD, and epilepsy is complex, and the direction of the relationship is not clear, with some studies suggesting that epilepsy may increase the risk of ASD, while others suggest that ASD may increase the risk of epilepsy 2, 3, 4.
  • Fragile X syndrome (FXS) is another genetic disorder that has been linked to an increased risk of developing ASD, and may also be associated with an increased risk of epilepsy and other neuropsychiatric symptoms, including schizophrenia-like symptoms 6.
  • The diagnosis of TSC and FXS can be challenging due to the shared symptoms between these disorders and ASD, and a multidisciplinary approach is recommended for diagnosis and treatment 5.

Key Findings

  • Patients with TSC are at increased risk of developing epilepsy and ASD, with a percentage of 33.7% of TSC patients having both epilepsy and autism 2.
  • TSC2 mutations are more common in patients with TSC and ASD, with 85.6% of patients with TSC and autism carrying a TSC2 mutation 2.
  • Early diagnosis and treatment of TSC and FXS are critical to improving outcomes, and may include behavioral therapy, medication, and advanced neuroimaging 4, 5.
  • Further research is needed to understand the underlying neurobiological mechanisms of TSC and FXS, and to develop effective treatments for these disorders 4, 5, 6.

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

5
Research

The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

6
Research

Autism and fragile X syndrome.

Seminars in neurology, 2014

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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