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Overview of Schizophrenia Genetic Complexity
Context:
- Recently, genetic research reveals the complexity of schizophrenia’s genetic mechanisms, emphasising the role of multiple genes rather than a single-gene causation.
- The study conducted by the UNC School of Medicine and the Karolinska Institutet, is published in Nature Reviews Neuroscience (2024).
Key Findings of the Research:
- Research has identified nearly 300 common genetic variants and more than 20 rare variants as significant risk factors for schizophrenia.
- This polygenicity indicates a complex interplay of genetic factors that remains challenging to fully understand.
- Findings are based on genome-wide association studies, whole-exome sequencing, and other analyses.
- Brain function studies reveal complex cellular composition and interconnections in both neurotypical individuals and those with schizophrenia.
- Environmental factors like lifestyle, drug use, poverty, stress, and birth complications are relevant to schizophrenia.
- Researchers emphasise the need for continued, scaled research due to the complexity of both genetic and environmental aspects of schizophrenia.
What is Schizophrenia?
- It is a neuropsychiatric disorder characterised by recurrent episodes of psychosis, including hallucinations, delusions, and disorganised thinking.
- It is a severe mental illness affecting a person’s thoughts, feelings, and behaviours.
- Individuals with schizophrenia may lose touch with reality, causing distress for themselves and those around them.
- Patients may also experience apathy, social withdrawal, and poor emotional control.
- Risk of Violence: Most individuals with schizophrenia are not violent, but untreated illness or substance misuse increases the risk of self-harm and violence.
- Typically diagnosed between 16 and 30, often after the first episode of psychosis.
- Stigma, discrimination, and violation of human rights of people with schizophrenia are common.
- Prevalence: Affects approximately 24 million people globally, or 1 in 300. Among adults, the rate is 1 in 222. More than two out of three people with psychosis in the world do not receive specialist mental health care.
- Risk Factors for Schizophrenia: Genetics, Environment, Brain Structure and Function.
Neuropsychiatric disorders:
Symptoms of Schizophrenia:
- Persistent Delusions: Fixed beliefs that something is true despite evidence to the contrary.
- Persistent Hallucinations: Sensory experiences such as hearing, smelling, seeing, touching, or feeling things that are not present.
- Experiences of Influence, Control, or Passivity.
- Disorganised thinking, Highly Disorganised Behaviour
- Negative Symptoms: Limited speech, restricted emotional expression, lack of interest or pleasure in activities, and social withdrawal.
- Extreme Agitation or Slowing of Movements.
- Cognitive Impairments: Persistent difficulties with memory, attention, and problem-solving skills.
Treatment of Schizophrenia:
- Antipsychotics: Block brain chemicals used for cell-to-cell communication. Help manage core symptoms of schizophrenia.
- Other Medications: Prescribed to address additional symptoms or side effects of antipsychotics. Includes medications to reduce side effects such as tremors.
- Psychotherapy: Cognitive Behavioral Therapy (CBT) helps with managing schizophrenia and associated issues.
- Electroconvulsive Therapy (ECT): Involves applying an electrical current to the scalp to stimulate brain areas, inducing a brief seizure.
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WHO Response
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