Article Title: Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do
Author: William Dodson, MD
Date of Publication: 2016
“ADHD is a confusing, contradictory, inconsistent, and frustrating condition. It is overwhelming to people who live with it every day…The Diagnostic and Statistical Manual of Mental Disorders has 18 criteria, and other symptom lists cite as many as 100 traits.”
Article Title: The Brain-Behavior Connection In Children with ADHD
Author: Joel Nigg, PhD
Date of Publication: 2016
Presentation slides providing information on the neuroscience of attention and emotion as it relates to ADHD. The slides also offer a look at self-regulation of emotions and behavior in individuals with ADHD and how much variability there is in this condition from one child to the next.
Article Title: Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome)
Author: Sophie van Rijn
Date of Publication: July 23, 2018
“Within the 47,XXY group, lower levels of salivary testosterone were significantly associated with higher levels of social anxiety. The correlation was strong, and independent of age and pubertal development. However, salivary levels of testosterone were uncorrelated to social cognitive skills.”
Article Title: Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome
Authors: Judith L. Ross, Nicole Tartaglia, Shanlee Davis, Allan L. Reiss, et al
Date of Publication: June 2017
“This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects on cognitive function, or hyperactive or aggressive behaviors.”
July, 2018
One of the sex chromosome variations least understood is XXYY. While the prevalence is reported to be 1 in 18,000 to 1 in 40,000, these estimates are likely an inadequate representation of true prevalence owing to missed diagnosis and alternate diagnoses for developmental, learning and behavioral issues. While early diagnosis is improving due to pre-natal screening and pre-natal diagnosis, there remains an unaccounted number of boys and men who have this variation and may not be aware.
For families with children and adults affected by XXYY, daily challenges abound in the areas of physical health, learning, behavior and launch to adulthood. Due to lack of information informed by research, no guidelines currently exist to help guide health care providers, educators and social services for how to preserve and maintain best function and quality of life for boys, men with XXYY and their families.
AXYS Editor’s Note: AXYS was excited to see this article in the Atlanta Business Chronicle. Dr. Close serves as the chair of the AXYS Professional Advisory Committee and her Atlanta clinic was one of the original clinics in the AXYS Clinic & Research Consortium (ACRC). Her dedication and insight into X and Y variations was already well-known in the community and the guidance that she provides the AXYS organization is invaluable.
Article Title: Vocal and gestural productions of 24-month-old children with sex chromosome trisomies
Authors: Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti,Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, and Paola Vizziello
Date of Publication: January 2018
Article Title: Klinefelter syndrome: more than hypogonadism
Authors: George A. Kanakis and Eberhard Nieschlag
Date of Publication: February 4, 2018
Article Title: Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome
Authors: De‑Feng Liu, Lian‑Ming Zhao, Kai Hong, Jia‑Ming Mao, Yu‑Zhuo Yang, Zhe Zhang, Hui Jiang
Date of Publication: October 3, 2017
Article Title: Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology
Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk
Date of Publication: February 9, 2018
“Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role. For example, recent developments in genetics and genomics point to a fundamental change in our understanding of KS, with global epigenetic and RNA expression changes playing a central role for the phenotype.”
