Abstract
BackgroundDuplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation.MethodsPattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60’) that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net.ResultsQuantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference.ConclusionsThe results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder.
Highlights
Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms
Deletion carriers had visual evoked potential (VEP) waveforms that were generally larger and had a sharp return after peak response, while duplication carriers had VEPs that were smaller in amplitude and more heterogeneous in morphology (Fig. 1)
A reduction in P1 amplitude of the VEP has been found in psychoses [23,24,25], and 16p11.2 copy number variation (CNV) are associated with schizophrenia and bipolar disorder [20, 26]
Summary
Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. It is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. Copy number variation of the 16p11.2 chromosomal region (16p CNV) is associated with developmental delay and a wide range of physical abnormalities, behavioral problems, and intellectual deficits [1]. Some features are manifested in deletion and duplication carriers, such as seizures and cognitive impairment [1], and others are affected in opposite ways, including head circumference and body weight [2, 3].
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