Childhood disintegrative disorder (CDD) is a rare condition characterized by distinct regression of developmental and behavioral functioning following a period of apparently normal development for at least 2 years. The purpose of this article is to present the developmental, behavioral, psychosocial, and medical histories of eight children who have been diagnosed with CDD in an attempt to advance the understanding of this rare disorder. Results indicate the average age of onset was 3.21 years. Three cases reported an insidious onset while two cases exhibited acute onset. Developmental and behavioral milestones were met at age appropriate times in each case and significant deterioration of formerly acquired skills and abnormalities in functioning were clinically present in all eight cases.
"Alternatively, perhaps regression manifests due to the accumulation of MeCP2-related insults during early life, i.e. the adverse molecular and cellular consequences that occur in absence or lack of functional MeCP2 from conception. The fact that regression occurs in other neurological disorders such as autism (one-fourth to one-third of cases) (Parr et al., 2011), and Childhood Disintegrative Disorder (Homan et al., 2011), may also suggest that such a phenomenon is not specific to MeCP2 dysfunction, but rather the loss of normal brain activity during this phase of development. Further studies using Mecp2 mouse models may be useful in addressing such possibilities. "
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