Behavioral phenotypes: review of some uncommon syndromes

Abstract

Introduction The behavior and cognitive profile specifically associated with a syndrome, usually of genetic origin, is called behavioral phenotype (BP). Development Many classic syndromes show wellknown associated BP in the bibliography, but there are less known syndromes that have characteristic BP. These BP usually show the presence of intellectual disability and/or autism spectrum disorder, with addition of neurobehavior and specific neuropsychological deficits. There is an increasing number of diagnoses of genetic syndromes with neurodevelopmental pathology due to the diffusion of study techniques such as arrays CGH and massive sequencing. The study of critical genes and specific mutations to establish the behavioral phenotype-genotype correlate in each syndrome can be complicated. We review various characteristic BP syndromes that are poorly cited in the bibliography, with interesting and paradigmatic genotype-phenotype correlates. Conclusions BP has lost part of the diagnostic value that it had in the days prior to diffusion of genetic diagnostic techniques, but it maintains an important value within prognosis and individualized management