Presentation video/slides from the September 2017 meeting of the AXYS Southeastern Support Group, Atlanta, Georgia
echo360.org/media/9da99351-82d9-4cdb-b9d5-88ea51f654b1/public
Presented by Heather Nadler and Mark Biernath
Brothers and sisters of boys and men with XXYY share what it means to grow up with XXYY.
Article Title: Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function
Authors: Anne Skakkebæk, MD, PhD, Philip J. Moore, MS, Simon Chang, MD, Jens Fedder, MD, PhD, and Claus H. Gravholt, MD, DMSc
Date of Publication: July 2017
“…relatively little attention has been paid to QoL in men with KS, or the factors that may determine it. In two studies to date, boys and men with KS were found to have a lower QoL than non-KS males in population-based samples. KS phenotype severity was also negatively associated with QoL among boys. In a third study, KS status was correlated with lower psychosocial well-being, which was associated with lower levels of employment and social support, and greater disease severity.”
Article Title: The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome
Authors: Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Peter Laurberg, Jens Michael Hertz, John Rosendahl Østergaard, Mikkel Wallentin, and Claus Højbjerg Gravholt
Date of Publication: December 2016
“The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.”
Article Title: Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome
Authors: Judith L. Ross, David P. Roeltgen, Harvey Kushner, Andrew R. Zinn, Allan Reiss, Martha Zeger Bardsley, Elizabeth McCauley, and Nicole Tartaglia
Date of Publication: April 2012
In case you have not had a chance to visit the AXYS website lately, several new research papers have been added in the library that you may want to review and also share with your health care providers and others. Two of these articles involve research by Dr. Claus Gravholt and his team at the Department of Endocrinology and Internal Medicine at Aarhus University Hospital in Denmark. This multidisciplinary clinic specializes in treating XXY individuals over the age of 15 and is one of the few clinics in the world that has that distinction. They see more than 400 adult patients with KS and have published a number of excellent research papers in the past based on their experiences.
Their latest publications focus on cognitive performance and quality of life issues associated with KS adults and they bring out many important points, including:
Article Title: 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment
Authors: Martha Zeger Bardsley, Karen Kowal, Carly Levy, Ania Gosek, Natalie Ayari, Nicole Tartaglia, Najiba Lahlou, Breanna Winder, Shannon Grimes, and Judith L. Ross
Date of Publication: May 2013
“The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.”
Presentation slides from the 2017 AXYS Family Conference presentation:
Transition to Adulthood (PDF)
Presented by Cory Nourie, MSS MLSP
Presentation slides from the 2017 AXYS Family Conference presentation:
Early Male Fertility Preservation Program for X and Y Variations (PDF)
Presented by Hooman Sadri-Ardekani, MD, PhD
Presentation slides from the 2017 AXYS Family Conference presentation:
Life After High School: Preparing Students with Learning Differences for Transition (PDF)
Presented by Sharon Heller
