Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder

Abstract

Adolescents with 22q11.2 Deletion Syndrome (22q11.2DS) and Schizotypal Personality Disorder (SPD) are at increased risk for the development of psychosis based, respectively, on genetic or behavioral factors. Thus both groups would be expected to manifest heightened rates of the prodromal signs that typically precede psychosis. Although there are now standardized procedures for assessing prodromal symptoms, there has been little research on the manifestation of these symptoms in 22q11.2DS patients, and no studies of differences in prodromal symptom patterns between genetically and behaviorally defined at-risk groups. In this study, demographically-matched groups of 23 SPD, 23 22q11.2DS, and 23 control participants were administered the Structured Interview for Prodromal Syndromes (SIPS). Both risk groups showed elevated positive, negative, disorganized, and general prodromal symptoms, as well as elevations on 10 of the same individual symptom items, relative to the control group. Approximately 60% of individuals in the 22q11.2DS group and 70% of individuals in the SPD group met symptom criteria for a prodromal psychosis syndrome. The 22q11.2DS group scored significantly higher than the SPD group on the “decreased ideational richness” item and showed a trend toward greater motor abnormalities. The results suggest that these two high-risk groups are similar in prodromal symptom presentation, possibly as a result of overlapping causal mechanisms, and that standardized measures of prodromal syndromes like the SIPS can be used to identify 22q11.2DS patients at greatest risk for conversion to psychosis.

Ultra High Risk Status and Transition to Psychosis in 22q11.2 Deletion Syndrome

“…Twenty-two of them (24.7%) fully met UHR criteria (i.e., including frequency and onset/ worsening requirements). Both rates are broadly consistent with previous studies in 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria 10,11,[16][17][18]33 . Thus, our findings confirm that patients with 22q11DS are at increased risk of experiencing attenuated symptoms of psychosis, regardless of transition to psychosis 23,34 .…”

“…Moreover, 22q11DS was found in 0.3 to 2.0% of patients with schizophrenia [12][13][14] , with rates of up to 5.7% in patients with childhood-onset schizophrenia 15 . Taken together, these findings indicate that 22q11DS is a highly relevant genetic risk factor for schizophrenia and the most promising human model for studying risk factors and states at risk for schizophrenia 5 .Several studies have investigated prodromal symptoms in patients with 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria (including frequency and onset/worsening requirements) 8,10,11,[16][17][18] . Armando et al 8 compared the symptom profile of UHR patients with (N530) vs. without (N581) 22q11DS and found no significant group difference in positive symptoms, while negative symptoms were more severe in patients with 22q11DS.…”

“…Several studies have investigated prodromal symptoms in patients with 22q11DS, reporting rates between 45 and 56% for UHR symptoms and between 10 and 21% for UHR criteria (including frequency and onset/worsening requirements) 8,10,11,[16][17][18] . Armando et al 8 compared the symptom profile of UHR patients with (N530) vs. without (N581) 22q11DS and found no significant group difference in positive symptoms, while negative symptoms were more severe in patients with 22q11DS.…”

Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study

“…7,8 Few studies have assessed subthreshold psychotic symptoms in 22q11.2DS reporting prevalence rates ranging from 20% to 56.5%. 5,[9][10][11][12] Small sample sizes, differences in participants' age, various definition of "prodromal symptoms" used (ie, including positive symptoms, negative/disorganized symptoms, or both), and the assessment tool employed, may contribute to the variability in reported rates.…”

“…15,16 The SIPS has been effectively administered to individuals with 22q11.2DS in several studies. 5,[9][10][11][12] Several factors may contribute to developing psychosis in individuals with 22q11.2DS. Among these are longitudinal decline in verbal IQ (VIQ), 17,18 lower baseline IQ, 3,8,19 the presence of comorbid anxiety disorders, 7,8,20 and lower global functioning.…”