Navigating the A to Z of Schizophrenia, Part 2: Symptomatology and Diagnosis

Transcript: 

Hi, I'm Andrew Penn. I'm a psychiatric nurse practitioner and a clinical professor at the University of California, San Francisco School of Nursing. I also see patients at the San Francisco Veterans Administration Hospital.  

This presentation is going to discuss the symptomology and disease progression of schizophrenia, the diagnosis of schizophrenia, including identifications of symptom clusters and patient history, and diagnostic challenges, symptom overlap, and challenges such as lack of tools and complexities of the workup of this illness.  

Schizophrenia is a chronic psychiatric disorder affecting approximately 24 million people across the world, or about 0.3% to 0.7% of the population. It profoundly impacts thought processes, emotions, and behaviors, leading to significant functional impairment.

The mechanisms underlying schizophrenia are not fully understood, but the current understanding is that abnormal signaling in neurotransmitters such as serotonin, glutamate, and dopamine leads to the symptoms associated with the condition. Genetic polymorphisms and environmental exposures during brain development all contribute to the risk of developing schizophrenia.  

Symptoms are categorized into positive, negative, and cognitive domains.

Positive symptoms, meaning those symptoms that are abnormally present, include things such as hallucinations, delusions, and disorganized speech or behavior. These are often the most recognizable and disruptive, as they can range from paranoia and distorted perception to hallucinations and delusions. 

Negative symptoms, or those symptoms that are abnormally absent, include affective flattening, social withdrawal, and lack of motivation. These symptoms are more subtle but profoundly impair quality of life and functioning, as patients may withdraw from society and be less likely to seek care.

Cognitive symptoms include a decline in the ability to perform cognitive tasks relative to norms and one’s own past performance. These symptoms may include deficits in memory and attention, impacts to executive function, or even abnormalities in physical functioning that significantly hinder functional recovery and employment prospects.

Symptoms vary significantly by disease stage. During the prodromal phase, individuals may display nonspecific symptoms such as social withdrawal and apathy and onset of cognitive difficulties. The acute phase is characterized by positive symptoms, while the chronic and residual phases are dominated by cognitive and functional impairments even when positive symptoms are controlled.

The diagnosis of schizophrenia is usually readily evident by the course of symptoms and the absence of other causative factors, but at times, there may be diagnostic uncertainty due to issues such as the patient’s ongoing substance use. The positive symptoms are the most notable, as they are more evident during observation, while the negative symptoms may not be as easy to pick up.

Delusions and hallucinations are perhaps the most prominent positive symptoms. Delusions may be paranoid in nature, and sometimes, they can be bizarre. Hallucinations can be tactile, visual, or auditory, with auditory hallucinations being the most common modality reported. Disorganized speech and behavior are difficult to overlook, and when persistent, they are not typically associated with other psychiatric illnesses.

Negative symptoms are more difficult to identify during those acute phases of psychosis because sometimes when people are socially withdrawn during that episode of the illness, it may relate to them having paranoid thoughts and feelings. Persistent negative symptoms become more evident once the acute positive symptoms are better managed.  

In addition to the clinician’s impression of the 3 symptom domains, information from family members or caregivers, collateral information, could further contextualize the extent and severity of symptoms and really to understand their evolution over time. This also helps to aid in determining the response to treatment and areas of residual symptom concern.

If at least 2 symptoms in the positive and negative domains, including at least 1 positive symptom, are noted and documented as occurring for at least a month, and persistent difficulties in daily life or other areas have occurred due to these emerging symptoms, we would then refer to a mental health clinician for further evaluation.

Functional decline, in particular, is often the leading indicator that this individual may be at risk for being in an early phase of schizophrenia.

The complexity of schizophrenia symptoms and their overlap with other psychiatric conditions, such as mood and substance use disorders, can, at times, make the diagnosis challenging. For instance, psychotic symptoms can be present in periods of mania or due to stimulant abuse.

Current diagnostic criteria rely heavily on clinical observation and patient history, leaving room for subjectivity and inconsistency. The absence of objective biomarkers that are readily accessible to clinicians remains one of the major unmet needs for the accurate diagnosis of schizophrenia.  

Early diagnosis and treatment are crucial for better outcomes, yet substantial delays are common. On average, individuals experience a delay of 1 to 2 years between symptom onset and receiving appropriate care. This gap in care unfortunately allows for further disease progression, and thus, a worsened prognosis.

Schizophrenia presents profound challenges for individuals, families, and healthcare systems. Its complexity demands a multidisciplinary approach to address existing challenges with accurate and timely diagnosis.

For more information on this, please see our videos on Prevalence and Persistence and also Novel Treatment Mechanisms of Schizophrenia. Thanks for watching.