Heterogeneity of clinical symptomatology in pediatric patients at clinical high risk for psychosis.

OBJECTIVE: Widespread use of diagnostic tools like the Structured Interview for Prodromal Symptoms (SIPS) has highlighted that youth at Clinical High Risk for Psychosis (CHR-P) present with heterogeneous symptomatology. This pilot study aims to highlight the range of clinical characteristics of CHR-P youth, investigate the role of the non-positive (negative, disorganization, and general) symptoms in risk assessment, and determine if specific profiles are associated with severe symptomatology. METHODS: 38 participants aged 7-18 were administered the SIPS and designated as CHR-P. Descriptive statistics and mean difference t-tests were used to describe the range in prevalence and severity of SIPS symptoms and to identify symptoms associated with greater overall symptomatology. RESULTS: Participants who had a greater number of positive symptoms also had significantly more negative, disorganization, and general symptoms. A number of SIPS symptoms were associated with greater number of positive symptoms. CONCLUSION: CHR-P youth represent a heterogeneous group, presenting with a wide range in clinical presentation as reflected in both the number of SIPS symptoms and their severity. Though the severity and duration of positive SIPS symptoms determines the CHR-P classification, high ratings on several of the other SIPS negative, disorganization, and general items may be useful indicators of elevated symptomatology.

Challenging Case: New-Onset Hallucinations and Developmental Regression in a Child with Autism Spectrum Disorder.

CASE: Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician. His parents recall that the physician described Nick to be "high functioning" and encouraged them to expect that he would attend college and live independently as an adult. Upon receiving the diagnosis, intervention was initiated using an applied behavioral analysis (ABA) approach. With this intervention, he demonstrated initial gains in the use of complex language and improved social interactions.Concerns regarding suspected psychosis emerged just before starting kindergarten when Nick began experiencing ego-dystonic visual and auditory hallucinations. Initially, Nick verbally responded to the hallucinations and vividly described what he was experiencing. Shortly after the onset of these hallucinations, Nick experienced a significant decrease in the frequency and complexity of his expressive language and became more withdrawn. Over time, his hallucinations intensified, and his parents became increasingly fearful for his safety. Various antipsychotic and mood-stabilizing medications, steroids, and immunotherapy have been trialed with limited improvement of his symptoms.An extensive medical evaluation yielded the following:1. Magnetic resonance imaging of the brain: dilated perivascular spaces.2. Urine organic acids: ketosis and increased lactic acid.3. Antinuclear antibody: minimally positive.4. Vitamin B12: elevated.All other studies, including lumbar puncture, electroencephalogram (awake and asleep), genetic studies (chromosomal microarray, fragile X testing, and whole exome sequencing), metabolic studies, inflammatory markers, and thyroid panel, were negative/normal.Nick is enrolled in a special education classroom within a school that utilizes an ABA-based approach for all students. As part of his educational programming, he receives 25 hours of ABA in a 1:1 setting, 2 hours of speech therapy, 3 hours of occupational therapy, 1 hour of physical therapy, and 30 minutes of music therapy weekly. Current concerns include significant head-banging and thrashing before falling asleep, hyperactivity, unsafe behaviors (e.g., banging on windows, climbing high to reach desired items), aggression toward caregivers, limited ability to complete self-care tasks (e.g., personal hygiene, toileting), significant decline in expressive language, and continued response to internal stimuli.Nick's parents now present to a multidisciplinary center seeking guidance regarding additional therapies/interventions to assist in management of his current developmental and behavioral challenges as well as information regarding his expected developmental trajectory as he reaches adulthood.

Validation of an ICD-code-based case definition for psychotic illness across three health systems.

Background and Hypothesis: Early detection of psychosis is critical for improving outcomes. Algorithms to predict or detect psychosis using electronic health record (EHR) data depend on the validity of the case definitions used, typically based on diagnostic codes. Data on the validity of psychosis-related diagnostic codes is limited. We evaluated the positive predictive value (PPV) of International Classification of Diseases (ICD) codes for psychosis. Study Design: Using EHRs at three health systems, ICD codes comprising primary psychotic disorders and mood disorders with psychosis were grouped into five higher-order groups. 1,133 records were sampled for chart review using the full EHR. PPVs (the probability of chart-confirmed psychosis given ICD psychosis codes) were calculated across multiple treatment settings. Study Results: PPVs across all diagnostic groups and hospital systems exceeded 70%: Massachusetts General Brigham 0.72 [95% CI 0.68-0.77], Boston Children's Hospital 0.80 [0.75-0.84], and Boston Medical Center 0.83 [0.79-0.86]. Schizoaffective disorder PPVs were consistently the highest across sites (0.80-0.92) and major depressive disorder with psychosis were the most variable (0.57-0.79). To determine if the first documented code captured first-episode psychosis (FEP), we excluded cases with prior chart evidence of a diagnosis of or treatment for a psychotic illness, yielding substantially lower PPVs (0.08-0.62). Conclusions: We found that the first documented psychosis diagnostic code accurately captured true episodes of psychosis but was a poor index of FEP. These data have important implications for the development of risk prediction models designed to predict or detect undiagnosed psychosis.

Validation of an ICD-Code-Based Case Definition for Psychotic Illness Across Three Health Systems.

BACKGROUND AND HYPOTHESIS: Psychosis-associated diagnostic codes are increasingly being utilized as case definitions for electronic health record (EHR)-based algorithms to predict and detect psychosis. However, data on the validity of psychosis-related diagnostic codes is limited. We evaluated the positive predictive value (PPV) of International Classification of Diseases (ICD) codes for psychosis. STUDY DESIGN: Using EHRs at 3 health systems, ICD codes comprising primary psychotic disorders and mood disorders with psychosis were grouped into 5 higher-order groups. 1133 records were sampled for chart review using the full EHR. PPVs (the probability of chart-confirmed psychosis given ICD psychosis codes) were calculated across multiple treatment settings. STUDY RESULTS: PPVs across all diagnostic groups and hospital systems exceeded 70%: Mass General Brigham 0.72 [95% CI 0.68-0.77], Boston Children's Hospital 0.80 [0.75-0.84], and Boston Medical Center 0.83 [0.79-0.86]. Schizoaffective disorder PPVs were consistently the highest across sites (0.80-0.92) and major depressive disorder with psychosis were the most variable (0.57-0.79). To determine if the first documented code captured first-episode psychosis (FEP), we excluded cases with prior chart evidence of a diagnosis of or treatment for a psychotic illness, yielding substantially lower PPVs (0.08-0.62). CONCLUSIONS: We found that the first documented psychosis diagnostic code accurately captured true episodes of psychosis but was a poor index of FEP. These data have important implications for the case definitions used in the development of risk prediction models designed to predict or detect undiagnosed psychosis.