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Case Reports in Pediatrics
Volume 2014, Article ID 980401, 5 pages
http://dx.doi.org/10.1155/2014/980401
Case Report

Can Attention Deficits Predict a Genotype? Isolate Attention Difficulties in a Boy with Klinefelter Syndrome Effectively Treated with Methylphenidate

1Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Messina, Via Consolare Valeria, 98125 Messina, Italy
2Division of Psychology, Department of Humanities and Social Sciences, University of Messina, Via Concezione, No. 6/8, 98100 Messina, Italy
3IRCCS Stella Maris, Scientific Institute Child Neurology and Psychiatry, Viale del Tirreno, No. 331, 56018 Calambrone, Pisa, Italy

Received 2 April 2014; Revised 15 June 2014; Accepted 30 June 2014; Published 19 August 2014

Academic Editor: Karen Kowal

Copyright © 2014 Antonella Gagliano et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

This paper describes a 17-year-old boy who was diagnosed with Klinefelter syndrome (KS) (XXY) at the age of 16 years. Although cognitive level was absolutely normal, he showed attentional difficulties that negatively affected school adjustment. He was successfully treated with methylphenidate. A significant improvement was observed in the ADHD Rating Scale IV and in the inattention subscale score of the Conners Scales. The CGI-S score improved from 3 to 1, and the CGI-I score at the end point was 1 (very much improved). Also attention measures, particularly forward and backward digit span, improved with MPH treatment. Given the widely variable and often aspecific features, KS may run undiagnosed in a large majority of affected patients. A close attention to the cognitive phenotype may favour a correct diagnosis, and a timely treatment.