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.
Prevalence of Klinefelter Syndrome (XXY) in Australia
Article Title: The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison
Authors: Amy S. Herlihy, Jane L. Halliday, Megan L. Cock, Robert I. McLachlan
Date of Publication: January 3, 2011
“A mean prevalence for KS of 152 per 100,000 male births was estimated from newborn screening programs in the 1960s and 1970s in several countries, including Denmark, the United States, Canada, Japan,and the United Kingdom. Despite this high frequency, and features such as small testicles in adulthood, it has been estimated that less than 10% of the estimated number of affected fetuses are detected prenatally, and only 26% of live-born cases are diagnosed postnatally. A birth prevalence for KS of 153 per 100 000 males in Denmark has been estimated using population information and adjusting the prenatal prevalence for maternal age, as KS is an incidental finding of prenatal karyotype tests that are more commonly performed in older mothers. Comparison with postnatal diagnoses confirmed that only 25% of KS cases are detected. The low diagnosis rate suggests most males with KS will not receive potentially beneficial treatments, especially androgen therapy. Most adult diagnoses occur during fertility assessment, beyond the ideal point for intervention. Detection in childhood and timely intervention may be essential for optimal medical and psychosocial outcomes in adulthood.”
Social Function in Multiple X and Y Conditions
Article Title: Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY
Authors: Jeannie Visootsak, John M. Graham, Jr.
Date of Publication: September 2, 2009
Abstract:
Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.
Executive Function Skills and School
Article Title: Executive Function…What is this anyway?
Author: Chris A. Zeigler Dendy, M.S.
Date of Publication: 2011
This article is not specific to X and Y conditions but it does present useful information about executive skills and how challenges in this area can impact kids in school.
Excerpt:
“Clearly school is often very difficult for students with attention deficits. However, when executive function deficits are also present, the accompanying problems are often overwhelming to the student and family. Unfortunately, some parents and teachers have had little awareness or sympathy for the challenges presented by these combined deficits. Hopefully, teachers and parents now realize that attention deficit disorder is often a very complex condition….when deficits in executive function and related learning problems are present, students can try their very best and still not succeed in school.”
Language Delay in Boys? Consider Klinefelter Syndrome
Article title: Language Delay in Boys? Consider Klinefelter Syndrome
Author: Bruce Jancin, Family Practice News
Date of Publication: February 29, 2012
Report on presentation by Dr. Charlotte M. Boney, chief of the division of pediatric endocrinology and metabolism at Hasbro Children’s Hospital in Providence, R.I.
“Seventy-five percent of guys with Klinefelter syndrome aren’t diagnosed until they are adults. We are missing the opportunity to diagnose Klinefelter when we could actually intervene in a timely way to promote normal pubertal development…”
While Dr. Boney’s comments focus on 47,XXY, we believe this article is relevant to all X and Y chromosome variations because some of the developmental indicators Dr. Boney mentions affect all conditions.
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ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Authors: Nicole R. Tartaglia, MD, Natalie Ayari, BA, Christa Hutaff-Lee, PhD, Richard Boada, PhD
Date of Publication: May 2012
Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).