Comparison of Cognitive and Psychophysiological Responses between 22q11 Deletion Syndrome Patients and Healthy Controls Open Access

Henshey, Brett (Spring 2023)

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Introduction: 22q11.2 deletion syndrome (22q11DS) is the most common interstitial-deletion disorder known in humans, occurring in approximately 1 in 4000 live births. 22q11DS is caused by the deletion of up to 3 megabases (Mb) of DNA on the proximal q arm of chromosome 22. 22q11DS patients exhibit a multitude of clinical phenotypes that include abnormal facial features, congenital heart defects, poor muscle development, and various cognitive disabilities. Up to 20-30% of patients with 22q11DS will develop schizophrenia (SCZ) by adulthood, making 22q11DS one of the strongest known genetic predictors of SCZ onset. In this study we examined cognitive, motor-reaction, and speed-of-target-detection performance in 22q11DS individuals to understand the relationship between cognition and psychophysiological responses used in target detection.

Methods: 21 patients with 22q11DS and 31 healthy comparison subjects performed psychophysiology measures, sensorimotor measures, neurocognitive measures, and had prodromal symptoms of SCZ assessed. The neurocognitive measures examined were preservative error rates and responses in the Wisconsin Card Sorting Task (WCST), a test of executive function. Motor function was assessed through a finger tapping task (FTT) (the subjects tapped a key as many times as they could in six ten second rounds for each hand). Reaction time latency to a visual cue was assessed with a reaction time test (RTT) and from a visual oddball task in a mismatch negativity paradigm (MMN). Each subject’s prodromal- symptom severity was assessed with the Structured Interview for Psychosis-Risk Syndromes (SIPS). One-way ANOVA tests were conducted for group comparisons with age, sex, socioeconomic status (SES), and education level entered as covariates.

Results: There were four significant group differences: the rates of SIPS positive symptoms (F(1,30)=5.370, p=.029; SIPS negative symptoms (F(1,30)=20.916, p=<.001; MMN Frequency Deviant (F(1,30)=5.241, p=.030; MMN Frequency and Duration Deviant (F(1,30)=7.813, p=.009. There were no significant differences in either FTT test, RTT, WCST perseverative errors or responses, and the MMN Duration deviant.

Conclusion: The higher rates of SIPS positive and negative symptoms in the 22q11DS group are not surprising considering the likelihood of prodromal symptoms in the 22q11.2 DS population. The differences in the MMN confirm the 22q11.2 DS defects in generating enhanced responses to oddball stimuli, especially when frequency or both frequency and duration deviate from the norm. The lack of significant difference between the two groups in the FTT could suggest basic motor functions are intact in individuals with 22q11DS. The similarity in reaction times could indicate that the basic neural processing necessary for target detection processes were intact and functional. 

Table of Contents

Table of Contents


IRB Approval 1



Subjects. 5

Inclusion Criteria: 5

Exclusion Criteria: 5

Assessments: 6

Acoustic Startle Response and Electromyography. 6

Mismatch Negativity: 7

Image 1: 8

Cognitive Measures and Sensorimotor Skills: 8


FTT: 9

RTT: 9


Statistics: 9

Results: 11

Discussion: 13

Demographics: 13

RTT: 13

FTT: 14

WCST: 14

SIPS: 14

ASR: 15

MMN: 15

Significance and Future Directions: 16

Tables. 17

Table 2. 18

Figures. 19

Figure 1. 19

Figure 2. 20

Figure 3. 21

References. 22

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