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

Antonella Gagliano,Loredana Benedetto,Gabriele Masi,Eva Germanò

doi:10.1155/2014/980401

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.

Highlights

This paper describes a 17-year-old boy who was diagnosed with Klinefelter syndrome (KS) (XXY) at the age of 16 years
Given the widely variable and often aspecific features, KS may run undiagnosed in a large majority of affected patients
Klinefelter syndrome (KS) (47, XXY) is a sex chromosome aneuploidy associated with speech and language deficits, socioemotional difficulties, motor dysfunction, and frontal lobe deficits including attention, planning, and organization, possibly in response to the pubertal hormonal abnormalities

Summary

Introduction

Klinefelter syndrome (KS) (47, XXY) is a sex chromosome aneuploidy associated with speech and language deficits, socioemotional difficulties, motor dysfunction, and frontal lobe deficits including attention, planning, and organization, possibly in response to the pubertal hormonal abnormalities. It is the most common chromosome abnormality in humans (1 : 500 to 1 : 1000 males), but due to the widely variable and often aspecific features, only one out of four cases are recognized [1]. This paper describes and comments the case of a KS boy with normal cognitive abilities and selective attentional deficits, successfully treated with methylphenidate (MPH)

Case Presentation

Findings

Discussion