Authors: Kenneth S. Kendler; Henrik Ohlsson; Jan Sundquist; Kristina Sundquist · Research
How Does Schizotypal Personality Disorder Relate to Schizophrenia and Other Mental Health Conditions?
A large-scale Swedish study reveals genetic and clinical links between schizotypal personality disorder, schizophrenia, and other psychiatric conditions.
Source: Kendler, K. S., Ohlsson, H., Sundquist, J., & Sundquist, K. (2024). The genetic epidemiology of schizotypal personality disorder. Psychological Medicine, 54, 2144-2151. https://doi.org/10.1017/S0033291724000230
What you need to know
- Schizotypal Personality Disorder (SPD) is a rare condition, diagnosed in about 0.04% of the Swedish population.
- People with SPD have an increased genetic risk for schizophrenia, autism spectrum disorder, major depression, and ADHD.
- About 15% of people with SPD develop schizophrenia over time, with genetic risk for schizophrenia being a significant predictor of this progression.
Understanding Schizotypal Personality Disorder
Schizotypal Personality Disorder (SPD) is a mental health condition characterized by unusual thoughts, behaviors, and difficulties with social relationships. It has long been thought to be related to schizophrenia, but its exact relationship to schizophrenia and other mental health conditions has been unclear. This study, conducted in Sweden, provides new insights into the nature of SPD and its connections to other psychiatric disorders.
How Common is SPD?
One of the most striking findings of this study is how rare SPD appears to be when diagnosed in clinical settings. The researchers found that only about 0.04% of the Swedish population had been diagnosed with SPD. This is much lower than previous estimates from studies that used personal interviews to diagnose SPD, which suggested rates of 1.6% to 3.9% in the United States and 0.6% in Norway.
This difference might be because doctors in regular clinical practice are less likely to diagnose SPD compared to researchers conducting specialized studies. It’s also possible that many people with milder forms of SPD don’t seek medical help or receive a different diagnosis.
SPD and Other Mental Health Conditions
People with SPD were found to have higher rates of several other mental health conditions:
- Autism Spectrum Disorder (ASD)
- Obsessive-Compulsive Disorder (OCD)
- Attention-Deficit/Hyperactivity Disorder (ADHD)
- Major Depression
This suggests that SPD often doesn’t occur in isolation but is frequently accompanied by other mental health challenges. This co-occurrence of multiple conditions (known as comorbidity) can make diagnosis and treatment more complex.
The Genetic Picture of SPD
One of the most important contributions of this study is its examination of the genetic risks associated with SPD. The researchers used a measure called the Family Genetic Risk Score (FGRS), which estimates a person’s genetic risk for a disorder based on its occurrence in their extended family.
People with SPD were found to have elevated genetic risks for several disorders:
Schizophrenia: The highest genetic risk was for schizophrenia, supporting the long-held view that SPD is related to schizophrenia.
Autism Spectrum Disorder: Interestingly, the second-highest genetic risk was for ASD. This suggests an important genetic link between SPD and ASD that hasn’t been widely recognized before.
Major Depression: There was also an elevated genetic risk for major depression.
ADHD: A smaller but still significant increased genetic risk for ADHD was observed.
OCD: The genetic risk for OCD was only slightly elevated.
These findings suggest that SPD shares genetic factors with several other psychiatric disorders, particularly schizophrenia and ASD. This genetic overlap might help explain why people with SPD often experience symptoms that resemble those of these other conditions.
Comparing SPD to Schizophrenia
The researchers also compared the genetic risk profiles of people with SPD to those with schizophrenia. They found that:
People with schizophrenia had a higher genetic risk for schizophrenia than those with SPD.
However, people with SPD had higher genetic risks for ASD, ADHD, and major depression compared to those with schizophrenia.
This suggests that while SPD and schizophrenia are related, they are distinct conditions with different genetic profiles.
Progression from SPD to Schizophrenia
An important question is how often people with SPD go on to develop schizophrenia. The study found that over an average follow-up period of 8.7 years, about 15% of people with SPD received a diagnosis of schizophrenia.
Several factors increased the likelihood of progressing from SPD to schizophrenia:
- Higher genetic risk for schizophrenia
- Being male
- Younger age at SPD diagnosis
- Receiving the SPD diagnosis in an inpatient setting
Interestingly, having a diagnosis of major depression, ASD, or ADHD along with SPD seemed to decrease the likelihood of developing schizophrenia.
Implications for Understanding and Treating SPD
These findings have several important implications:
Genetic Complexity: SPD appears to be genetically complex, with links to several different psychiatric disorders. This suggests that a one-size-fits-all approach to treatment may not be effective.
Personalized Risk Assessment: The genetic risk profile of an individual with SPD might help predict their risk of developing schizophrenia or other conditions, potentially allowing for more targeted interventions.
Relationship to ASD: The strong genetic link between SPD and ASD is a novel finding that warrants further investigation. It suggests that some of the social difficulties experienced by people with SPD might be related to ASD-like traits.
Diagnostic Challenges: The rarity of SPD diagnoses in clinical practice compared to research studies suggests that SPD might be underdiagnosed or misdiagnosed in regular healthcare settings.
Need for Comprehensive Care: Given the high rates of comorbidity, people with SPD likely need comprehensive mental health evaluations and care that addresses multiple areas of difficulty.
Conclusions
- Schizotypal Personality Disorder is a rare but complex condition with genetic links to several other psychiatric disorders, particularly schizophrenia and autism spectrum disorder.
- While related to schizophrenia, SPD has a distinct genetic profile and most people with SPD do not develop schizophrenia.
- The findings highlight the need for comprehensive, personalized approaches to diagnosing and treating SPD that take into account its genetic complexity and frequent co-occurrence with other mental health conditions.