The Dup15q syndrome has received little attention because of its rarity, the fairly nonspecific phenotype, the clinical heterogeneity, and the wide spectrum of severity. Along with developmental delay, autism spectrum disorder (ASD) and epilepsy are predominant components of the clinical picture. In a retrospective cohort of 30 unrelated patients [1], 77 % of cases met the criteria for developmental delay, while 74 % had a diagnosis of ASD. In a prospective study of children with Dup15q syndrome [2], ASD was diagnosed in 9/9 patients with maternally derived duplications and in 2/4 patients with paternally derived duplications.
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