2009
DOI: 10.1002/ddrr.83
|View full text |Cite
|
Sign up to set email alerts
|

The cognitive phenotype in Klinefelter syndrome: A review of the literature including genetic and hormonal factors

Abstract: Klinefelter syndrome (KS) or 47,XXY occurs in ∼1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems. In addition to medical findings, the presence of the extra X chromosome can lead to characteristic cognitive and language deficits of varying severity. While a small, but significant downward shift in mean overall IQ has been reported, the general cognitive abilities of patients with KS are not typically in the intellectual … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

7
121
1
1

Year Published

2012
2012
2024
2024

Publication Types

Select...
7
2
1

Relationship

0
10

Authors

Journals

citations
Cited by 151 publications
(130 citation statements)
references
References 80 publications
7
121
1
1
Order By: Relevance
“…Consistent with previous findings, linking KS status and intelligence with cognitive performance (Bender, Linden, & Harmon, 2001; Bender, Linden, & Robinson, 1993; Boada, Janusz, Hutaff‐Lee, & Tartaglia, 2009; Kompus et al., 2011; O'Brien & Pearson, 2004; Ross et al., 2008; Walzer, Bashir, & Silbert, 1990), this research represents a relatively rare biopsychosocial examination of cognitive performance among individuals with chromosomal abnormalities and, to the best of our knowledge, the first such examination among patients with KS. These results also help explain cognitive deficits among patients with KS by identifying the central—though not necessarily exclusive—role of intelligence in this process.…”
Section: Discussionsupporting
confidence: 91%
“…Consistent with previous findings, linking KS status and intelligence with cognitive performance (Bender, Linden, & Harmon, 2001; Bender, Linden, & Robinson, 1993; Boada, Janusz, Hutaff‐Lee, & Tartaglia, 2009; Kompus et al., 2011; O'Brien & Pearson, 2004; Ross et al., 2008; Walzer, Bashir, & Silbert, 1990), this research represents a relatively rare biopsychosocial examination of cognitive performance among individuals with chromosomal abnormalities and, to the best of our knowledge, the first such examination among patients with KS. These results also help explain cognitive deficits among patients with KS by identifying the central—though not necessarily exclusive—role of intelligence in this process.…”
Section: Discussionsupporting
confidence: 91%
“…1 The majority exhibit a 47,XXY karyotype, although mosaicism or the presence of more than one supernumerary X chromosome are also observed. 2,3 The physical and non-physical features, as well as the comorbidities, are highly varied, [4][5][6][7][8][9][10] but most commonly include small testes, gynaecomastia, azoospermia, language and learning problems and behavioural and psychosocial difficulties. [11][12][13][14] In spite of its high incidence, 75% will remain undiagnosed throughout their lifetime 15,16 and only 10% will be diagnosed before puberty.…”
Section: Introductionmentioning
confidence: 99%
“…Eighty percent of boys with KS may need special education support. [21][22][23] In our 2 patients, the cognitive phenotype, academic difficulties, and characteristic personality triggered the suspicion and, in particular, stimulated the search for more typical signs of KS. According to our experience we believe that all boys who present before puberty with tall stature and a characteristic cognitive or behavioral pattern deserve a karyotype analysis.…”
Section: Discussionmentioning
confidence: 91%