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Neurocognitive Profile of ODLURO Syndrome: Emergent Overlapping Trends Across KMT2 Disorders 

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
O’Donnell-Luria-Rodan (ODLURO) syndrome is a rare Mendelian disorder of the epigenetic machinery caused heterozygous pathogenic variants in KMT2E. Currently, the cognitive profile of this syndrome remains poorly characterized as compared to Kabuki syndrome or Wiedemann Steiner Syndrome, neurodevelopmental disorders caused by pathogenic variants in KMT2D and KMT2A both under the same KMT2 family. This case series offers preliminary findings on the cognitive phenotype of ODLURO syndrome.

Methods:
This retrospective investigation involves a medical chart review of 8 pediatric patients – all with molecular confirmation of ODLURO syndrome. Descriptive analyses were completed to examine cognitive trends in the cohort.

Results:
Half (50%) of our sample were broadly within normal limits in Verbal Index. Similarly, the majority of patients were broadly average in verbal abstract reasoning (83%) and expressive vocabulary (80%). In contrast, most patients were below average to impaired in Visual Spatial Index (75%), and non-verbal abstract reasoning (83%). Half those who completed a measure of visuoconstruction or visuomotor skills scored very low.

Conclusion:
In our small sample of patients with ODLURO syndrome, a pattern of nonverbal reasoning and visuomotor deficits paired with relative strengths in verbal skills was observed. This resulting profile is similar to documented literature observed in select other KMT2 disorders (Kabuki syndrome and Wiedemann Steiner syndrome), suggesting possible shared pathogenesis of the neurodevelopmental disorders. More research with a larger sample, clinical comparison groups, and more comprehensive test measures are warranted.

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