All ICNA Members are requested to "Register to Vote" for the upcoming Board Elections by following this link . Members are also requested to kindly complete the accompanying survey. Registration will remain open until 22 May 2022. The elections will take place from 23 May - 5 June 2022.
• To understand the recent advances in the developmental encephalopathies, namely, Rett syndrome, MECP2 Duplication Disorder, CDKL5 Deficiency Disorder and FOXG1 Disorder through comparison of the important similarities and critical differentiating features of this expanding group of neurodevelopmental disorders;
• To understand the phenotypegenotype relationships that characterize each disorder; and
• To promote the existing and emerging clinical trials that offer the potential for diseasemodifying or curative promise.
- Understand the recent advances in the developmental encephalopathies, namely, Rett syndrome, MECP2 Duplication Disorder, CDKL5 Deficiency Disorder and FOXG1 Disorder through comparison of the important similarities and critical differentiating features of this expanding group of neurodevelopmental disorders including clinical trajectories and phenotype-genotype correlations.
- Understand the current strategies and challenges to develop and promote clinical trials that offer the potential for disease-modifying or curative therapeutics. Impact Statements This educational session helped me to identify changes I could make in my practice related to:
- Evaluation, diagnosis, and management of these developmental encephalopathies including directing these children to clinical centers focusing on these disorders.
- Educating and advocating for parents and other caregivers regarding the therapeutic opportunities available or under development for these developmental encephalopathies.
Alan Percy, MD; University of Alabama at Birmingham, Birmingham, Alabama, USA
Rett Syndrome: Current Status and Therapeutic Considerations
Jeffrey L. Neul, MD, PhD; Vanderbilt Kennedy Center, Nashville, Tennessee, USA
MECP2 Duplication Disorder: Understanding the Developmental Trajectory and Potential Therapies
Sarika U. Peters, PhD; Vanderbilt University Medical Center, Nashville, Tennessee, USA
CDKL5 Deficiency Disorder: Advances in Understanding and Current Therapeutic Approaches
Nadia Bahi-Buisson, MD, PhD; Necker Enfants Malades University Hospital, APHP, Paris, France
Recent Progress in Genotype-Phenotype Correlations in FOXG1 Disorder
Knut Brockmann, MD
Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders Children’s Hospital
University Medical Center, University of Göttingen, Göttingen, Germany
Comparison of the Core Features of the Developmental Encephalopathies from the Rett Natural History Study
Eric Marsh, MD, PhD; Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA