Can attention deficits predict a genotype? Isolate attention difficulties in a boy with klinefelter syndrome effectively treated with methylphenidate

Antonella Gagliano; Eva Germanò; Loredana Benedetto; Gabriele Masi

doi:10.1155/2014/980401

Can attention deficits predict a genotype? Isolate attention difficulties in a boy with klinefelter syndrome effectively treated with methylphenidate

Case Rep Pediatr. 2014:2014:980401. doi: 10.1155/2014/980401. Epub 2014 Aug 19.

Authors

Antonella Gagliano¹, Eva Germanò¹, Loredana Benedetto², Gabriele Masi³

Affiliations

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

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.