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<p>Dup15q syndrome is a rare genetic neurodevelopmental disorder caused by copy number gains of 15q11.2-q13.1, which include <i>UBE3A</i> and three GABA-A receptor subunit genes among several other genes. The contribution of the different genes to etiology remains elusive. Excess EEG beta-band power is a characteristic electrophysiological phenotype of this syndrome and a candidate biomarker of increased GABA-A receptor activity. Here we investigate the link between clinical and EEG phenotypes. We implemented a method to isolate oscillatory activity in the beta-band (16–32 Hz) from the background of the EEG power spectrum, i.e., locally referenced power (LRP<sub>β</sub>) and applied it to EEGs from children with Dup15q syndrome (<i>n</i> = 52) and age-matched typically developing children (<i>n</i> = 14). We then investigated the relationship of LRP<sub>β</sub> with cognitive ability (assessed with the Mullen Scales of Early Learning or the Differential Ability Scale), and adaptive behaviors (assessed with the Vineland Adaptive Behavior Scales). LRP<sub>β</sub> was strongly elevated in individuals with Dup15q syndrome compared to typically developing children (effect size, Hedges’ g = +1.84). LRP<sub>β</sub> significantly correlated with both cognitive ability (developmental quotient; r = −0.48, <i>p</i> = 0.008) and adaptive functioning (Adaptive behavior composite score; r = −0.56, <i>p</i> = 0.002) in individuals without a history of epilepsy. Our results suggest that excess GABA-A receptor function is a relevant component of Dup15q syndrome pathophysiology and further substantiates the relevance of EEG beta-band power as a biomarker in Dup15q syndrome.</p>

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Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月15日

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  • Joerg F. Hipp,
  • Stormy Chamberlain,
  • Charlotte DiStefano,
  • Joel Frohlich,
  • Maria-Clemencia Hernandez,
  • Vidya Saravanapandian,
  • Vanessa Vogel-Farley,
  • Celia Goeldner,
  • Shafali S. Jeste

摘要

Dup15q syndrome is a rare genetic neurodevelopmental disorder caused by copy number gains of 15q11.2-q13.1, which include UBE3A and three GABA-A receptor subunit genes among several other genes. The contribution of the different genes to etiology remains elusive. Excess EEG beta-band power is a characteristic electrophysiological phenotype of this syndrome and a candidate biomarker of increased GABA-A receptor activity. Here we investigate the link between clinical and EEG phenotypes. We implemented a method to isolate oscillatory activity in the beta-band (16–32 Hz) from the background of the EEG power spectrum, i.e., locally referenced power (LRPβ) and applied it to EEGs from children with Dup15q syndrome (n = 52) and age-matched typically developing children (n = 14). We then investigated the relationship of LRPβ with cognitive ability (assessed with the Mullen Scales of Early Learning or the Differential Ability Scale), and adaptive behaviors (assessed with the Vineland Adaptive Behavior Scales). LRPβ was strongly elevated in individuals with Dup15q syndrome compared to typically developing children (effect size, Hedges’ g = +1.84). LRPβ significantly correlated with both cognitive ability (developmental quotient; r = −0.48, p = 0.008) and adaptive functioning (Adaptive behavior composite score; r = −0.56, p = 0.002) in individuals without a history of epilepsy. Our results suggest that excess GABA-A receptor function is a relevant component of Dup15q syndrome pathophysiology and further substantiates the relevance of EEG beta-band power as a biomarker in Dup15q syndrome.