Phenotype differentiation of FOXG1 and MECP2 disorders: a new method for characterization of developmental encephalopathies

Written By Peter Slavish

First Author: Mandy Ma (More authors)
Journal: The Journal of Pediatrics
Year: 2016

Developed the ‘Developmental Encephalopathy Inventory’, a tool to measure and differentiate between different features of individuals with autism spectrum disorders or intellectual disabilities. The DEI is designed to evaluate fourteen different domains, including: ambulation, fine motor skills, language, mood, movements, seizures, sensory functions, etc. The authors used the DEI to compare features of individuals with FOXG1 syndrome and Rett syndrome. For both disorders, fine motor and expressive language skills were often impaired. The DEI was able to identify features that distinguished the two syndromes; generally, FOXG1 syndrome was assessed as being more severe, whereas those with Rett syndrome tended to become more severely affected with age.

Significance
Developed a systematic way to evaluate clinical severity in individuals with FOXG1 syndrome. This can be used to measure the success or limitations of proposed therapies in clinical trials.

Peter Slavish
Previous

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1 patients and in foxg1 mice

Next

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy