Cognitive and motor development during childhood in boys with Klinefelter syndrome

Ross, Judith L.; Roeltgen, David P.; Stefanatos, Gerry A.; Benecke, Rebecca; Zeger, Martha P.D.; Kushner, Harvey; Ramos, Purita; Elder, F.F.B.; Zinn, Andrew R.

doi:10.1002/ajmg.a.32232

Cited by 162 publications

(178 citation statements)

References 48 publications

(54 reference statements)

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“…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: Discussionmentioning

confidence: 99%

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

et al. 2017

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IntroductionThe determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.MethodsSixty‐nine patients with KS and 69 controls were assessed in terms of IQ, NEO personality inventory, the Autism Spectrum Quotient (AQ) scale, and measures of cognitive performance reflecting working memory and executive function.ResultsPatients with KS performed more poorly on memory and executive‐function tasks. Patients with KS also exhibited greater neuroticism and less extraversion, openness, and conscientiousness than controls. Memory deficits among patients with KS were associated with lower intelligence, while diminished executive functioning was mediated by both lower intelligence and less social engagement.ConclusionOur results suggest that among patients with KS, memory deficits are principally a function of lower general intelligence, while executive‐function deficits are associated with both lower intelligence and poorer social skills. This suggests a potential influence of social engagement on executive cognitive functioning (and/or vice‐versa) among individuals with KS, and perhaps those with other genetic disorders. Future longitudinal research would be important to further clarify this and other issues discussed in this research.

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Section: Discussionmentioning

confidence: 99%

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

et al. 2017

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“…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: 90%

“…20 Global intelligence (FSIQ) is generally within the normal limits, but boys with KS may demonstrate atypical neurocognitive development. 21 In general, the cognitive phenotype is subtle and far from pathognomonic of KS, 21 but it generally is characterized by depressed performance on measures of language development, attention, and academic ability. Language difficulties are frequent and manifest both as delays in speech milestones in younger boys and significant deficits in higher aspects of expressive language, such as word retrieval and narrative formulation in older patients.…”

Section: Discussionmentioning

confidence: 99%

A Characteristic Cognitive and Behavioral Pattern as a Clue to Suspect Klinefelter Syndrome in Prepubertal Age

Messina

Sgro

Aversa

et al. 2012

The Journal of the American Board of Family Medicine

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Klinefelter syndrome (KS) with the classic 47,XXY karyotype is the most frequent chromosomal aneuploidy, with a prevalence of 1 in 700 men; although the classic clinical picture is well-known and easily recognizable, most patients remain undiagnosed. The rate of diagnosis during childhood is extremely low, and only 10% of cases are identified before puberty, with a subsequent rate of ascertainment during lifetime of 25%. The low rate of timely diagnosis is because most of the classical signs and symptoms of androgen deficiency appear in mid-to late adolescence but it is important to recognize that adult men with KS may show a great variability in clinical and physical features. A common, often underappreciated, element in young boys and children with KS is the characteristic cognitive and behavioral pattern. We describe 2 patients who were diagnosed at 7.1 and 10 years through a characteristic neurocognitive profile. Both of them showed low-normal scores when evaluated by tests of general intelligence and a behavioral profile characterized by immaturity, low self-esteem, and learning disabilities. Clinical examination showed tall stature and progressive growth acceleration between 5 and 7 years, and one of them had hypoplastic scrotum with monolateral cryptorchidism. To achieve the goal of an early diagnosis of KS, it is necessary to increase medical awareness of the disease and, in particular, to augment pediatricians' knowledge that during prepubertal age pathognomonic clinical features of KS are often lacking but a characteristic cognitive and behavioral pattern is commonly present. (J Am Board Fam Med 2012;25:745-749.)

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“…In none of the studies performed till now, a difference on cognitive performance between testosterone-treated and untreated adolescents with KS could be observed (38,40,41). Furthermore, Aksglaede et al (42) and Bojesen et al (43) described that testosterone treatment could only partially correct the unfavorable muscle:fat ratio in adolescents with KS.…”

Section: Testosterone Supplementation In Adolescence "mentioning

confidence: 97%

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

Gies

Unuane

Velkeniers

et al. 2014

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital malformations, and psychiatric, endocrine, and metabolic disorders. Preventive care is to be provided from diagnosis, preferentially through a multidisciplinary approach, including that from an endocrinologist, clinical psychologist or psychiatrist, neurologist, urologist, geneticist, sexologist, and a fertility team. Accurate information about the condition and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling. Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.

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Cognitive and motor development during childhood in boys with Klinefelter syndrome

Cited by 162 publications

References 48 publications

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

A Characteristic Cognitive and Behavioral Pattern as a Clue to Suspect Klinefelter Syndrome in Prepubertal Age

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

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