Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder
Abstract
Objective:
Methods:
Results:
Conclusions:
Methods
EOP Samples
Full EOP Sample (N=137) | EOP Without ASD or Intellectual Disability (N=89) | EOP Without Schizophrenia (N=99) | EOP Before Age 13 (N=101) | |||||
---|---|---|---|---|---|---|---|---|
Characteristic | N | % | N | % | N | % | N | % |
Sex | ||||||||
Male | 88 | 64.2 | 50 | 56.2 | 63 | 63.6 | 65 | 64.4 |
Female | 49 | 35.8 | 39 | 43.8 | 36 | 36.4 | 36 | 35.6 |
Race | ||||||||
Asian or Pacific Islander | 3 | 2.2 | 3 | 3.4 | 2 | 2.0 | 2 | 2.0 |
Black/African American | 21 | 15.3 | 15 | 16.9 | 16 | 16.2 | 12 | 11.9 |
Two or more races | 2 | 1.5 | 2 | 2.2 | 0 | 0.0 | 2 | 2.0 |
White | 90 | 65.7 | 56 | 62.9 | 65 | 65.7 | 67 | 66.3 |
Unknown or not available | 21 | 15.3 | 13 | 14.6 | 16 | 16.2 | 18 | 17.8 |
Ethnicity | ||||||||
Hispanic/Latino | 22 | 16.1 | 15 | 16.9 | 16 | 16.2 | 15 | 14.9 |
Not Hispanic/Latino | 91 | 66.4 | 62 | 69.7 | 66 | 66.7 | 67 | 66.3 |
Unknown or not available | 24 | 17.5 | 12 | 13.5 | 17 | 17.2 | 19 | 18.8 |
Age at psychosis symptom onset | ||||||||
<8 years | 38 | 27.7 | 23 | 25.8 | 27 | 27.3 | 38 | 37.6 |
8–12 years | 63 | 46.0 | 43 | 48.3 | 43 | 43.4 | 63 | 62.4 |
13–18 years | 36 | 26.3 | 23 | 25.8 | 29 | 29.3 | — | — |
Primary psychosis spectrum disorder | ||||||||
Schizophrenia | 38 | 27.7 | 21 | 23.6 | — | — | 31 | 30.7 |
Affective psychosis | ||||||||
Schizoaffective disorder (bipolar type) | 11 | 8.0 | 6 | 6.7 | 11 | 11.1 | 8 | 7.9 |
Schizoaffective disorder (depressed type) | 8 | 5.8 | 8 | 9.0 | 8 | 8.1 | 5 | 5.0 |
Major depressive disorder with psychotic features | 17 | 12.4 | 15 | 16.9 | 17 | 17.2 | 10 | 9.9 |
Bipolar disorder with psychotic features | 17 | 12.4 | 13 | 14.6 | 17 | 17.2 | 12 | 11.9 |
Schizophreniform disorder | 2 | 1.5 | 0 | 0.0 | 2 | 2.0 | 2 | 2.0 |
Brief psychotic disorder | 1 | 0.7 | 0 | 0.0 | 1 | 1.0 | 0 | 0.0 |
Other specified or unspecified schizophrenia spectrum and other psychotic disorder | 43 | 31.3 | 26 | 29.2 | 43 | 43.4 | 33 | 32.7 |
Co-occurring diagnoses | ||||||||
Autism spectrum disorder | 47 | 34.2 | ||||||
Intellectual disability | 17 | 12.4 | — | — | 10 | 10.1 | 11 | 10.9 |
History of seizures | 24 | 17.5 | 12 | 13.5 | 15 | 15.2 | 19 | 18.8 |
ASD and Unselected Populations
Genotyping and CNV Calling
Recurrent CNV Analyses
CRS: Genome-Wide Dosage Sensitivity Analyses
Sensitivity Analyses
Results
EOP Cohort
Prevalence of Recurrent CNVs in the EOP, ASD, and Unselected Population Cohorts
Contrast and Group | CNV Carrier Group | ||||
---|---|---|---|---|---|
ASD contrast | ASD carriers | EOP carriers | Odds ratio | 95% CI | p |
EOP (N=137) | 193 | 11 | 2.42 | 1.16, 4.57 | 0.02 |
EOP without ASD (N=90) | 193 | 6 | 1.79 | 0.63, 4.11 | 0.16 |
EOP without intellectual disability (N=120) | 193 | 7 | 1.72 | 0.67, 3.72 | 0.20 |
EOP without schizophrenia (N=99) | 193 | 8 | 2.43 | 1.01, 5.10 | 0.02 |
EOP before age 13 (N=101) | 193 | 6 | 1.75 | 0.62, 4.02 | 0.17 |
Control contrast | Control carriers | EOP carriers | Odds ratio | 95% CI | p |
EOP (N=137) | 273 | 11 | 5.19 | 2.50, 9.75 | 2×10–5 |
EOP without ASD (N=90) | 273 | 6 | 3.83 | 1.36, 8.77 | 6×10–3 |
EOP without intellectual disability (N=120) | 273 | 7 | 3.68 | 1.43, 7.94 | 4×10–3 |
EOP without schizophrenia (N=99) | 273 | 8 | 5.22 | 2.17, 10.88 | 3×10–4 |
EOP before age 13 (N=101) | 273 | 6 | 3.75 | 1.33, 8.58 | 7×10–3 |
CRSs in the EOP, ASD, and Unselected Population Cohorts
Contrast and Group | Deletions | Duplications | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
ASD contrast | ASD CRS | EOP CRS | Odds ratio | 95% CI | p | ASD CRS | EOP CRS | Odds ratio | 95% CI | p |
EOP (N=137) | 0.86 | 1.39 | 1.03 | 1.01, 1.06 | 0.33 | 1.88 | 1.63 | 0.98 | 0.96, 1.01 | 0.61 |
EOP without ASD (N=90) | 0.86 | 1.00 | 1.01 | 0.97, 1.04 | 0.89 | 1.88 | 1.42 | 0.96 | 0.93, 1.00 | 0.48 |
EOP without intellectual disability (N=120) | 0.86 | 0.53 | 0.94 | 0.89, 0.99 | 0.42 | 1.88 | 1.63 | 0.98 | 0.95, 1.01 | 0.64 |
EOP without schizophrenia (N=99) | 0.86 | 1.59 | 1.04 | 1.02, 1.07 | 0.24 | 1.88 | 1.76 | 0.99 | 0.96, 1.02 | 0.78 |
EOP before age 13 (N=101) | 0.86 | 1.25 | 1.03 | 1.00, 1.06 | 0.56 | 1.88 | 1.34 | 0.95 | 0.92, 0.99 | 0.42 |
Control contrast | Control CRS | EOP CRS | Odds ratio | 95% CI | p | Control CRS | EOP CRS | Odds ratio | 95% CI | p |
EOP (N=137) | 0.23 | 1.39 | 1.30 | 1.26, 1.35 | 9×10–8 | 0.94 | 1.63 | 1.09 | 1.06, 1.12 | 0.02 |
EOP without ASD (N=90) | 0.23 | 1.00 | 1.24 | 1.19, 1.30 | 3×10–4 | 0.94 | 1.42 | 1.07 | 1.04, 1.11 | 0.17 |
EOP without intellectual disability (N=120) | 0.23 | 0.53 | 1.19 | 1.12, 1.27 | 0.04 | 0.94 | 1.63 | 1.09 | 1.06, 1.12 | 0.03 |
EOP without schizophrenia (N=99) | 0.23 | 1.59 | 1.31 | 1.27, 1.36 | 3×10–7 | 0.94 | 1.76 | 1.10 | 1.07, 1.13 | 0.02 |
EOP before age 13 (N=101) | 0.23 | 1.25 | 1.34 | 1.28, 1.39 | 4×10–7 | 0.94 | 1.34 | 1.06 | 1.03, 1.10 | 0.25 |
Sensitivity Analyses: Prevalence of Recurrent CNVs in EOP Subgroups
Sensitivity Analyses: CRS in the EOP Subgroups
Discussion
Acknowledgments
Footnote
Supplementary Material
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