Hearing loss in youth with 22q11.2 deletion syndrome may modulate auditory cortical development, with preliminary evidence of smaller right lateral superior temporal gyrus volumes and atypical planum temporale and planum polare lateralization, suggesting potential implications for psychosis-risk etiopathology.
Key Findings
Results
No regional auditory cortical volumes survived FDR correction when comparing 22q11.2DS participants to typically developing controls after controlling for total cerebral volume and age.
22q11.2DS group included n=23 participants; typically developing controls included n=21 participants
Total cerebral volume (TCV) and age were used as covariates
Multiple comparisons were addressed using FDR correction
Structural MRI was the neuroimaging modality used
Results
Within the 22q11.2DS group, participants with hearing loss showed smaller right lateral superior temporal gyrus volumes compared to those without hearing loss.
Effect size was large: d = 1.41
Bootstrap p = 0.003 (uncorrected)
This finding did not survive FDR correction
11 participants had hearing loss and 12 did not within the 22q11.2DS group
Authors characterize this as a preliminary, hypothesis-generating finding given small subgroup sizes
Results
Altered planum temporale and planum polare lateralization was observed in the 22q11.2DS group relative to typically developing controls.
Findings were bootstrap-supported but uncorrected for multiple comparisons
The lateralization differences were described as 'atypical' relative to controls
These findings are characterized as preliminary given small sample sizes and multiple comparisons
Lateralization abnormalities in these regions are noted as potentially relevant to psychosis-risk etiopathology
Results
Youth with 22q11.2DS showed significantly elevated behavioral and psychological difficulties compared to typically developing controls across multiple domains.
Elevated anxiety, atypicality, attention problems, internalizing symptoms, and withdrawal were observed in the 22q11.2DS group
Lower functional communication, social skills, and cognitive indices were found in the 22q11.2DS group
All behavioral differences reached statistical significance at ps < 0.05 FDR corrected
These behavioral assessments covered both internalizing and functional/adaptive domains
Results
Brain-behavior correlations within the 22q11.2DS group did not survive correction for multiple comparisons.
Correlations between auditory cortical volumes and psychological functioning measures were examined
None of the brain-behavior correlations survived FDR correction
Small subgroup sizes (n=11 with hearing loss, n=12 without) limited statistical power
Authors note this limits conclusions about relationships between auditory cortical structure and psychological outcomes
Background
Hearing loss affects a substantial proportion of individuals with 22q11.2DS, and this comorbidity is identified as potentially relevant to auditory processing abnormalities implicated in psychosis.
Hearing loss affects 40 to 65% of individuals with 22q11.2DS according to prior literature cited
22q11.2DS carries significantly elevated risk of schizophrenia spectrum disorders
Auditory processing abnormalities are described as implicated in psychosis
The study framed hearing loss as a variable that may modulate auditory cortical development in this high-risk population
What This Means
This research suggests that in young people with a genetic condition called 22q11.2 deletion syndrome (22q11DS) — which greatly increases the risk of developing schizophrenia — hearing loss may affect how certain brain regions involved in sound processing develop. Specifically, youth with 22q11DS who also had hearing loss showed a notably smaller volume in a right-sided brain region called the lateral superior temporal gyrus compared to those with 22q11DS but no hearing loss, and there were also differences in the symmetry of two other auditory brain regions (planum temporale and planum polare) compared to typically developing children. However, these brain differences were found in a small group and did not hold up after statistical corrections for multiple comparisons, so they should be considered preliminary.
The study also found that youth with 22q11DS had significantly more anxiety, attention problems, social withdrawal, and internalizing symptoms, as well as lower communication, social, and cognitive functioning compared to typically developing peers — differences that did survive statistical correction. However, no clear links between the brain structural differences and these behavioral/psychological difficulties were statistically confirmed.
This research matters because 22q11DS is one of the strongest known genetic risk factors for schizophrenia, and hearing loss is very common in this population (affecting 40–65% of individuals). Understanding how hearing loss might alter brain development in auditory regions — regions already thought to play a role in psychosis — could help clarify why some individuals with 22q11DS go on to develop psychotic disorders. The authors emphasize that the neuroimaging findings are hypothesis-generating given the small sample and should be followed up with larger studies.