home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 109      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2015  |  Volume : 10  |  Issue : 3  |  Page : 258-260

Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature


1 Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
2 Department of Pediatrics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
3 Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy

Correspondence Address:
Annio Posar
Child Neurology and Psychiatry Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, IRCCS Institute of Neurological Sciences of Bologna, Via Altura 3, 40139 Bologna
Italy
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.165685

Rights and Permissions

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.






[FULL TEXT] [PDF]*


        
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed3520    
    Printed40    
    Emailed0    
    PDF Downloaded480    
    Comments [Add]    
    Cited by others 1    

Recommend this journal