Biological Implications of the Overlapping Phenomenon Between Childhood Schizophrenia and Autism Spectrum Disorders-Heterogeneity Approach Rather Than Diagnostic Boundary

Complex diseases such as schizophrenia and autism are heterogeneous in clinical presentation and etiology. This high heterogeneity constitutes the challenges for the clinical diagnosis and etiological research, resulting in that the majority of research findings cannot be replicated in the independent samples. For the high comorbid rate between the diagnoses of schizophrenia and autism spectrum disorders (ASD), and the shared neurocognitive deficits, genetic risks, and biological markers between the two disorders, a heterogeneity approach may probably be more promising than to arbitrarily split the two diagnostic categories apart or lump them together for etiological research. In schizophrenia, patients with a very early onset of disease and with preceding neurodevelopmental conditions may imply a different underlying etiology from those with typical onset and without neurodevelopmental conditions. Echoing the evidence that in early onset Parkinson's disease, PARK2 (encoding parkin protein) mutations are successfully reported to be as frequent as 49% with an autosomal-recessive mode of inheritance , representing a specific disease entity of Parkinson's disease. Therefore, it is critical to characterize the clinical phenotypes for this subpopulation of very early onset patients, including their clinical manifestation, disease course, and treatment response, as well as early developmental history and morphological characteristics. These may establish an important base for investigating the etiology and providing adequate clinical care for the heterogeneous syndrome of schizophrenia

Study Overview

• Status: Active, not recruiting
• Conditions: Schizophrenia; Autism Spectrum Disorder
• Intervention / Treatment: Other: Structural anatomy

• Study Type: Observational
• Enrollment (Estimated): 230

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

as mentioned earlier, patients with schizophrenia and/or autism spectrum disorder

Description

Inclusion Criteria:

• SZ group: schizophrenia onset earlier than 12 years old
• COS group: schizophrenia onset later than 12 years old
• ASD group: diagnosed with autism spectrum disorder without schizophrenia
• Dual group: diagnosed with ASD and SZ

Exclusion Criteria:

• congenital disease
• major physical diseases
• neurodegenerative disorder
• chromosomal aberration

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
childhood onset schizophrenia (COS); diagnosis of schizophrenia under the age of 13 years.	Other: Structural anatomy; images acquired with 3T MRI system with 32 channel head coil
schizophrenia (SZ); patients with schizophrenia with and age of onset later than 13 years	Other: Structural anatomy; images acquired with 3T MRI system with 32 channel head coil
autism spectrum disorder (ASD); dual diagnosis of schizophrenia and ASD, including SZ with ASD, COS with ASD	Other: Structural anatomy; images acquired with 3T MRI system with 32 channel head coil

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Positive and Negative Syndrome Scale PANSS	33 item scale composed of 7 positive scale, 7 negative scale, 16 general psychopathology, and 3 aggression risk profile. Range from 0 to 7, higher the score, more severe the symptoms are.	3 years
Autism Diagnostic Observation Schedule	interview with subjects. range from 0 to 8, higher the score, worse the autistic symptoms.	3 years.
Physical anomalies and craniofacial features	41 qualitative items were used to examine the presence or absence of morphological anomalies and magnitude of anomalies. Minor physical anomalies were rated from 0 to 83, higher the score, greater the anomalies.	3 years
Brain structural anatomy with MRI scan	3 Tesla MRI with a 32-channel head coil was used to collect brain imaging of cortical thickness, cortical volume, white matter volume, gyrification. The MRI structural images will be analyzed using FreeSurfer image analysis suite.	3 years

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): February 2, 2015
• Primary Completion (Estimated): December 31, 2024
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: May 4, 2023
• First Submitted That Met QC Criteria: September 28, 2023
• First Posted (Actual): October 2, 2023

Study Record Updates

• Last Update Posted (Actual): October 18, 2023
• Last Update Submitted That Met QC Criteria: October 17, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Schizophrenia Spectrum and Other Psychotic Disorders; Neurodevelopmental Disorders; Schizophrenia; Autistic Disorder; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Schizophrenia, Childhood
• Other Study ID Numbers: 201412165RINB

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No