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The Role of Genes, Intelligence, Personality, and Social Engagement in Cognitive Performance in Klinefelter Syndrome

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.”

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2018-11-10T15:16:51-05:00Categories: 47,XXY (Klinefelter)|

XXY Update – Fall, 2017

PDF

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:

    1. Adult issues related to neurocognitive challenges are complex, difficult and do not receive adequate research attention or effective care.
    2. There are very few places in the world that provide expert multidisciplinary treatment for XXY adults.
    3. Most KS adults have difficulty finding skilled, effective health care from health professionals that are aware of current research in KS.

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2017-09-05T20:08:59-04:00Categories: 47,XXY (Klinefelter)|

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

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.”

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2018-07-31T12:54:17-04:00Categories: 47,XYY|

2017 AXYS Family Conference, Aurora, Colorado

Presentation Slides (in PDF format)

Presenter Presentation
Cory Nourie, MSS, MLSP Transition to Adulthood 
Sharon Heller Life After High School: Preparing Students with Learning Differences for Transition
Liz Coan, PsyD Understanding the ABCs of Behavior in Children
Alan D. Rogol, MD, PhD Testosterone Therapy for Adolescents/Adults with Sex Chromosome Aneuploidies: What’s Available and What’s New?
Elizabeth Berry-Kravis, MD, PhD Seizures and Tremor
Akanksha Mehta, MD, MS Male Fertility in X and Y Variations: Current State-of-the-Art and Future Implications
Brenda Finucane, MS, LGC Family Genetic Background Contributes to Phenotypic Variability in Sex Chromosome Variations and Other Neurodevelopmental Conditions
Bahareh Michelle Schweiger, DO, MPH Metabolic Syndrome in 47,XXY
Virginia Isaacs Cover, MSW, MBA Government Benefits: Special Considerations for Adolescents and Adults with Extra X and Y Chromosomes
Kimberly Kuiper, MSc & Nienke Bouw, MSc Socio-emotional Functioning of Children with Sex Chromosome Trisomies: A Focus on Emotion Regulation
Sheryl K. Kelly, esq. and Gary Glissman Legal Issues and Challenges
Jeanine Coleman, PhD A Model for Assessment Accommodations for Individuals with Intellectual and Developmental Disabilities 
Nicole Tartaglia, MD Making Medication Decisions & Strategies to Set and Monitor Treatment Goals
Susan Howell, MS, CGC, MBA Disclosing the Diagnosis
Sharron Close, PhD, MS, CPNP-PC, FAAN Patient-Centered Approaches to Research Pathways
Armin Raznahan MD, PhD Gene Function, Brain Development, and Behavior in X & Y Chromosome Variations
Sharron Close, PhD, MS, CPNP-PC, FAAN & Dorothy Boothe, PhD Working the Room: Advocacy You Can Use
Alan Reiss, MD Brain And Behavioral Development In Klinefelter Syndrome
Erin Torres, Nurse Practitioner Issues and Challenges in XYY Syndrome
Rebecca Wilson, PsyD and others Triple X Syndrome
Jennifer A. Janusz, PsyD, ABPP-Cn Understanding Executive Functions
Karen Riley, PhD IEP and 504 Accommodations
Shanlee Davis, MD, MSCS Thinking About Starting Testosterone for XXY/XXYY/XXXY
Hooman Sadri-Ardekani, MD, PhD Early Male Fertility Preservation Program for X&Y Variations
2019-07-19T14:26:59-04:00
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