Corpus callosum agenesis and rehabilitative treatment

Etiology and pathogenetic mechanisms have been better understood in recent years, due to the availability of more adequate animal models and the relevant progresses in developmental neurosciences. These recent findings are reviewed (through a MedLine search including papers published in the last 5 years and most relevant previously published papers) in view of the potential impact on children's global functioning and on the possible rehabilitative treatment, with an emphasis on the possibility to exploit brain plasticity and on the use of the ICF-CY framework.Corpus Callosum Agenesis (CCA) is among the most common brain malformations observed in humans [1]. Its incidence varies as a function of both diagnostic techniques and sample populations: in the general population, its estimated prevalence is 3-7 per 1000 birth, while in children with developmental disabilities it is 2-3 per 100 [2-4]. It is often associated with other anomalies such as Chiari II malformation (also known as proper Chiari malformation) with abnormal development of cerebellar vermis and medulla oblongata, which tend to descend into the foramen magnum, usually accompanied by myelomeningocele, basilar type encephalocele and disorders of neural migration (which occurs concurrently in human brain development) such as schizencephaly, lissencephaly, pachygyria, marked neuronal heterotopias. Recent neuroradiological findings [5] suggest that CCA might lie along a dysgenetic spectrum, including all commissural anomalies as part of an overall cerebral dysgenesis. Abnormal sulcation is common and suggests more diffuse white matter dysgenesis in these foetuses [6], even if some authors do not consider this as an additional brain abnormality [7]. The isolated form of CCA is however listed in OMIM (217990) and ORPHAnet (ORPHA200).Patients with CCA have a clinical syndrome which had originally been thought to be a consequence of hemispheres' disconnection. Recent studies, however, pointed out that patients wi