Open AccessNeurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature
Author(s) -
Annio Posar,
Raffaella Faggioli,
Paola Visconti
Publication year - 2015
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.165685
Subject(s) - rett syndrome , medicine , intellectual disability , autism , phenotype , autism spectrum disorder , fragile x syndrome , encephalopathy , intervention (counseling) , imitation , neurodevelopmental disorder , angelman syndrome , clinical psychology , pediatrics , developmental psychology , psychiatry , neuroscience , psychology , genetics , gene , biology
The phenotype of cyclin-dependent kinase-like 5 (CDKL5) syndrome includes Rett syndrome variant with early onset seizures, early onset epileptic encephalopathy; and severe developmental delay. Autistic features have often been reported in literature, but detailed reports of the behavior of these individuals are lacking. We describe the clinical picture of a girl aged 15 years 9 months affected by CDKL5 syndrome, with special attention to the neurobehavioral phenotype. The evaluation showed, apart from a profound intellectual disability, the presence of atypical features of behavior, mainly in relating to people, in imitation, and in verbal and nonverbal communication, thus justifying the diagnosis of comorbid autism spectrum disorder. A formal assessment of the behavior, through appropriate tools, is necessary to choose the most appropriate rehabilitative intervention and to characterize in more detail the CDKL5 syndrome phenotype. We propose a testing protocol for the neurobehavioral assessment of these patients.