Human Genome Discussion
Title: How many genomes do you have?
Author: John Rennie
Date of Publication: November 29, 2011
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.”
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.”
The authors have presented at AXYS Families’ Conferences and participated in AXYS Scientific Conferences.
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.
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.”
Mother Labored to Find Reason for Son’s Developmental Delays
Article Title: Mother labored to find reason for son’s developmental delays
Author: Sandra G. Boodman (The Washington Post)
Date of Publication: August 24, 2010
Original Klinefelter Article from 1942
Article Title: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1
Authors:
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).
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.”
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.”
Assessing the Risks and Benefits of Diagnosing Genetic Conditions through Population Screening
Article Title: Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example
Authors: Amy Simone Herlihy, Jane Halliday, Rob I. McLachlan, Megan Cock, Lynn Gillam
Date of Publication: March 29. 2010
Abstract:
Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.