Abstract
Neurodevelopmental disorders, sometimes referred to as disorders of intellectual disability (ID), are a large family of conditions of genetic, acquired, or environmental origin that are characterized by deficiencies in cognitive and behavioral functions. While many of these dis‐ orders share similar behavioral phenotypes, they are often accompanied with other features specific to each disorder. One disorder with a unique progression is Rett Syndrome (RTT; Online Mendelian Inheritance in Man #312750; http://www.ncbi.nlm.nih.gov/omim/). RTT is the leading cause of severe ID in females, with approximately 1:10,000 females worldwide affected by this disorder. Mutations in the gene encoding the transcriptional regulator, methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome (Xq28), have been confirmed in more than 95% of individuals meeting diagnostic criteria for RTT. RTT is char‐ acterized by an uneventful early infancy followed by stagnation and regression of growth, motor, language, and social skills later in development.
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