ArticleThe Journal of pediatrics2016
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Article in The Journal of pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- PLP1-Targeting Antisense Oligonucleotides Improve FOXG1 Syndrome Mice.International journal of molecular sciences · 2024Article
- Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.Orphanet journal of rare diseases · 2024Article
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Conditional Deletion ofInternational journal of molecular sciences · 2023Article
- Parent-Reported Sleep Profile of Children With Early-Life Epilepsies.Pediatric neurology · 2022Article
- Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.Journal of child neurology · 2021Article
- FoxG1 regulates the formation of cortical GABAergic circuit during an early postnatal critical period resulting in autism spectrum disorder-like phenotypes.Nature communications · 2021Article
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.Molecular cytogenetics · 2020Article
- Consensus guidelines on managing Rett syndrome across the lifespan.BMJ paediatrics open · 2020Article
- Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.Frontiers in cellular neuroscience · 2020Review
- Review
- Severity Assessment in CDKL5 Deficiency Disorder.Pediatric neurology · 2019Review
- Data Science for Child Health.The Journal of pediatrics · 2019Review
- Proteolytic cleavage of host proteins by the Group IV viral proteases of Venezuelan equine encephalitis virus and Zika virus.Antiviral research · 2019Article
- DelineatingNeurology. Genetics · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
objectiveTo differentiate developmental encephalopathies by creating a novel quantitative phenotyping tool. STUDY
designWe created the Developmental Encephalopathy Inventory (DEI) to differentiate disorders with complex multisystem neurodevelopmental symptoms. We then used the DEI to study the phenotype features of 20 subjects with FOXG1 disorder and 11 subjects with MECP2 disorder.
resultsThe DEI identified core domains of fine motor and expressive language that were severely impaired in both disorders. Individuals with FOXG1 disorder were overall more severely impaired. Subjects with FOXG1 disorder were less able to walk, had worse fine motor skills, more disability in receptive language and reciprocity, and had more disordered sleep than did subjects with MECP2 disorder (P <.05). Covariance, cluster, and principal component analysis confirmed a relationship between impaired awareness, reciprocity, and language in both disorders. In addition, abnormal ambulation was a first principal component for FOXG1 but not for MECP2 disorder, suggesting that impaired ambulation is a strong differentiating factor clinically between the 2 disorders.
conclusionsWe have developed a novel quantitative developmental assessment tool for developmental encephalopathies and propose this tool as a method to identify and illustrate core common and differential domains of disability in these complex disorders. These findings demonstrate clear phenotype differences between FOXG1 and MECP2 disorders.
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