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Understanding and Modifying the Behavior of Children with X and Y Chromosome Variations: A Guide for Parents and Professionals

Article Title: Understanding and Modifying the Behavior of Boys with XXYY: A Guide for Parents and Professionals

Author: Karen Riley, PhD

Date of Publication: 2007

This paper was originally commissioned by the XXYY Project.  At the urging of Dr. Riley, the XXYY Project has generously shared their valuable “Behavior Paper” with AXYS.

While this paper focuses on the behavioral profile of XXYY, it will prove very valuable for any child who is experiencing behavior issues.  This paper provides step-by-step instructions for coping with behavioral issues that many children with X and Y chromosome variations may experience to one degree or another.

We urge you to review this document and generally substitute your child’s condition for XXYY.  In most cases, the fit is very good.

Once again, we offer our sincere thanks to the XXYY Project for sharing this important work with the AXYS community.

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2018-07-14T10:45:59-04:00Categories: All Variations|

Prevalence and Psychosocial Correlates of Depressive Symptoms Among Adolescents and Adults with Klinefelter Syndrome

Article Title: Prevalence and Psychosocial Correlates of Depressive Symptoms among Adolescents and Adults with Klinefelter Syndrome

Authors: Amy Turriff, ScM, Howard P. Levy, MD, PhD, and Barbara Biesecker, PhD, MS

Date of Publication: November, 2011

“Individuals with XXY may be at increased risk for depression. Routine screening for depressive symptoms and appropriate referral and evaluation may be warranted.”

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2018-09-08T20:27:13-04:00Categories: 47,XXY (Klinefelter)|

Role of the X Chromosome in Social Behavioural Dysfunction and Autism-like Behaviour

Article Title: Role of the X Chromosome in Social Behavioural Dysfunction and Autism-like Behaviour

Authors: Sophie van Rijn, Hanna Swaab, Marit Bierman, Rita Zijlstra

Date of Publication: January 2010

“Social cognitive competence appears to be a good predictor of social behaviour and adaptation. Individual variance in social cognitive competence is, for a substantial part, attributable to genetic factors. Deficits in social behaviour are seen in populations such as those with autism-spectrum disorders, and although social (dys)functioning may be similar at the level of behavioural phenotypes, it may substantially differ with regard to the underlying cognitive and genetic pathways. In this review study it is argued that there is a need to study the neurocognitive and behavioural phenotypes in more homogeneous genetic groups. This enables us to identify aetiological pathways to psychopathology. In both Turner syndrome (45, XO) and Klinefelter syndrome (47, XXY), basic social-cue processing deficits are observed, which may contribute to difficulties in social intuition and hence in coping with social situations. The study of these two syndromes opens up opportunities to study the influence of the X chromosome on brain behaviour developmental trajectories of social functioning and psychopathology in heterogeneous populations.”

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The authors have presented at AXYS Families’ Conferences and participated in AXYS Scientific Conferences.

2018-09-09T10:11:00-04:00Categories: All Variations|

Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome

Article Title: Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

Authors: K. Steinman, J. Ross, S. Lai, A. Reiss, F. Hoeft

Date of Publication: December 15, 2009

Highly technical article that looks at various research studies associated with neurobiology and neuroimaging of 47,XXY brains. Could be a useful article for discussions with medical professionals interested in the underlying neuroanatomy involved with XXY. Also could be helpful for situations involving the legal system where it is important for the court to understand the neurobiological differences that can be present in XXY.

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2018-07-14T10:59:30-04:00Categories: 47,XXY (Klinefelter)|

Cognitive Phenotype in Klinefelter Syndrome (XXY)

Article Title: The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetic and Hormonal Factors

Authors: Nicole Tartaglia, Richard Boada, Jennifer Janusz, Christa Hutaff-Lee

Date of Publication: December 15, 2009

“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 the intellectual disability range. Most studies support that males with KS have an increased risk of language disorders and reading disabilities.Results of other studies investigating the relationship between verbal and nonverbal/spatial cognitive abilities have been mixed, with differing results based on the age and ascertainment method of the cohort studied. Executive function deficits have been identified in children and adults with KS, however, the research in this area is limited and further investigation of the neuropsychological profile is needed. In this article, we review the strengths and weaknesses of previous cognitive and neuropsychological studies in males with KS in childhood and adulthood, provide historical perspective of these studies, and review what is known about how hormonal and genetic factors influence cognitive features in 47,XXY/KS.”

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2018-09-25T11:57:16-04:00Categories: 47,XXY (Klinefelter)|

Original Klinefelter Article from 1942

Article Title: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1

Authors: Harry F. Klinefelter, Edward C. Reifenstein, Fuller Albright

Date of Publication: 1942

This is the abstract from the original medical journal article published by Harry Klinefelter in 1942 that described the Klinefelter Syndrome (not to be confused with 47,XXY).

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2018-07-14T11:40:05-04:00Categories: 47,XXY (Klinefelter)|

Psychosocial Impact of Klinefelter Syndrome

Article Title: The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

Authors: Amy S. Herlihy, BSc, Robert I. McLachlan, MD, PhD, Lynn Gillam, MA, PhD, Megan L. Cock, BSc, PhD, Veronica Collins, MSc, PhD, and Jane L. Halliday, BSc, PhD

Date of Publication: July 2011

“This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.”

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2018-09-28T14:10:53-04:00Categories: 47,XXY (Klinefelter)|

Postnatal screening for XXY (Klinefelter Syndrome)

Article Title: Postnatal screening for Klinefelter syndrome: is there a rationale?

Authors: Amy S. Herlihy, Lynn Gillam, Jane L. Halliday, Robert I. McLachlan

Date of Publication: December 27, 2010

“Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population-based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.”

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2018-09-28T11:36:23-04:00Categories: 47,XXY (Klinefelter)|
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