Klinefelter's syndrome and psychoneurologic function

Verri, Annalisa; Cremante, Anna; Clerici, Federica; Destefani, Valeria; Radicioni, A.

doi:10.1093/molehr/gaq018

Cited by 52 publications

(50 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Motor function is examined using fine motor and gross motor tasks and measures strength, speed and agility, and coordination. On specific tasks including repetitive thumb finger tapping and foot tapping, the boys with KS perform close to levels expected for age as shown by couple studies (Verri et al, 2010). However, as the tasks became more complex (tapping four sequential fingers to thumb), the boys with KS fail to perform as well as expected.…”

supporting

confidence: 56%

Growth and Development in Children and Adolescents with Klinefelter Syndrome (47,XXY)

Bolyakov

Paduch

2011

Handbook of Growth and Growth Monitoring in Health and Disease

View full text Add to dashboard Cite

Klinefelter syndrome (KS) is the most common chromosomal aberration in men. The prevalence of KS in male reproductive practices is 3-4%; however, most children and adolescents are either never diagnosed or are diagnosed late because of infertility in adulthood. KS has an effect on normal development, growth, social interactions, bone structure, and sexual and reproductive function. The aim of this chapter is to review critical aspects of growth and development in children and adolescents with KS (47,XXY) based on available literature and personal experience of authors practicing in specialized academic practice. Newborns with KS may have decreased muscle tone but in general children with KS reach developmental milestones at normal or just slightly delayed age. During early childhood boys with KS present with deficits in language and auditory processing. The depressed verbal IQ relative to overall performance of IQ is very common and should lead to karyotype prior to puberty. During puberty immaturity, insecurity, poor judgment, inappropriate assertive activities are typical. Phenotypically children with KS are indistinguishable from non-KS peers; however, during puberty simple physical exam and identification of small testes of disproportionate size to developmental stage should trigger cytogenetic evaluation. Historically young men with KS were at higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), and increased mortality in case of severe obesity, although it is now believed that morbidity associated with KS is a result of hypogonadism and hyperestrogenism in addition to abnormal function of X chromosome-linked genes. Early androgen replacement therapy, weight control, speech therapy, physical therapy, occupational therapy, and educational services have resulted in significant decrease in rate of obesity and improved both academic and socioeconomic status of young patients with KS. Early detection and appropriate management may have significant potential to improve general health, academic progress, and social integration of many boys and adolescents born with additional X chromosome. Because of high prevalence of KS and beneficial effects of early interventions, pediatricians, psychiatrists, psychologists, and neurologists should have low threshold to perform cytogenetic analysis to establish diagnosis of Klinefelter syndrome. IntroductionKlinefelter syndrome (KS) is the most common chromosomal aberration in men. The KS phenotype includes childhood onset testicular failure, tall stature, and characteristic cognitive attributes. There are approximately 250,000 men with KS in the United States, and the prevalence of KS in male reproductive practices is 3-4%; however, most men are never diagnosed. KS has an effect on normal development, growth, social interactions, bone structure, and sexual and reproductive function, thus an early multidisciplinary approach to children with KS is important in providing state-of-the-art care to ...

show abstract

supporting

confidence: 56%

Growth and Development in Children and Adolescents with Klinefelter Syndrome (47,XXY)

Bolyakov

Paduch

2011

Handbook of Growth and Growth Monitoring in Health and Disease

View full text Add to dashboard Cite

show abstract

“…Cognitive functioning of KS subjects is characterized by the difficulty in expressive language. Language difficulties have been identified in 70-80% of children with KS at an early age [29]. Language difficulties include delay in onset of first words and in acquisition of the main stages of language development, in reading, expression, writing and reasoning abilities in arithmetic.…”

Section: Discussionmentioning

confidence: 99%

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

Verri¹,

D’Angelo²,

Cremante³

et al. 2017

Andrology

View full text Add to dashboard Cite

Sex Chromosomal Aneuploidies (SCAs) are the most frequently occurring chromosomal abnormalities with an incidence of 1 in 450 births. Males with SCAs are known to have variability in their developmental profile. Aim of this paper is to illustrate clinical variability in the different SCAs. The sample was composed by 53 subjects (mean age=21.16 years, range: 13-54) with karyotype 47, XXY (73%), 49, XXXXY (7%), 48, XXYY (9%), mosaicism 47, XXY/48, XXXY (2%), 47, XYY (5%), 48, XXXY (2%), 49, XXXYY (2%). Only 5 subjects have been diagnosed prenatally (4 KS and 1 XXYY). Primary caregivers completed a comprehensive questionnaire detailing birth, medical, developmental and psychological history. Cognitive and behavioral assessment was performed with clinical interviews with DSM IV criteria and psychometric questionnaires (WISC-R, WAIS-R, CPM, Token Test, VABS, SCL90, and SCQ). Twenty-one sex and age matched subjects karyotypically normal were also evaluated from the behavioural point of view. Mean IQ in typical KS was 87.45 ± 2 ds (sd=20.12) range [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35] while in CPM the other SCAs subjects scored 22.27 (range 10-35) and 22.50 (range 9-31) in the Token Test (p<0.05). VABS scores documented more marked impairment on adaptive behavior in atypical SCAs subjects. SCL90 documented an elevation of paranoid scale in the 70% of KS subjects and 50% of other SCAs. Autistic traits were present in 67% of the other SCAs subjects and in the 18% of KS at the SCQ. A precise identification of the cognitive and behavioral phenotype in different SCAs may enhance the clinical treatment, anticipatory guidance, and care throughout the lifespan.

show abstract

“…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%

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

View full text Add to dashboard Cite

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.)

show abstract

Klinefelter's syndrome and psychoneurologic function

Cited by 52 publications

References 38 publications

Growth and Development in Children and Adolescents with Klinefelter Syndrome (47,XXY)

Growth and Development in Children and Adolescents with Klinefelter Syndrome (47,XXY)

Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)

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

Contact Info

Product

Resources

About