AXYS have compiled some key resources for further information on X & Y chromosome variations including Klinefelter syndrome/XXY, XYY, XXX, XXYY, XXXY, XXXXY and other variants.
These resources are aimed at parents, individuals, health professionals, educators, early intervention professionals and the wider community are here to help develop a better understanding of these X & Y chromosome variations. These resources provide a wide range of information and knowledge and will help ensure individuals affected by these chromosome anomalies are supported as best as possible.
AXYS will continue to build on these resources but if you have any further helpful resources that we should add please don't hesitate in contacting us. The more resources we can share within the community the better.
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Brochures
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https://axys.org.au/wp-content/uploads/2020/08/AXYS-Prenatal-Brochure-Final.pdf
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Presentation
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AXYS 2018 conference presentation by the NDIS co-ordinator at the RCH. The presentation covered and overview of what the NDIS is and fielded many questions from our members.
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Presentation
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AXYS 2018 conference presentation by Anita one of the AXYS leadership team members discussing where AXYS and come from and how we are moving forward into the future of reading our goals to; support, inform and empower those living with or are associated with X & Y Chromosome variants.
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Presentation
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AXYS 2018 conference presentation by an Endocrinologist on the different types of testosterone available in Australia and who they work.
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Presentation
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AXYS conference 2018 presentation on anxiety and depression and increasing awareness and the importance of looking after yours and your child’s mental health and wellbeing.
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Blog
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This is a list of suggested books that can help children grapple with anxiety and emotional challenges.
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Blog
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Reading to children is vital and should be a big part of a child’s life. Here is some suggested books that should be ready to the child in prep or foundation.
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Book
adults children prenatal professionals xxxxy
Unique are an organisation which support and promote the understanding of rare chromosome and gene disorders. They have developed this booklet on XXXXY.
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Book
adults children prenatal professionals xxxy
Unique are an organisation which support and promote the understanding of rare chromosome and gene disorders. They have developed this booklet on XXXY.
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Research Paper
adult children xxy
A research study exploring if individuals with mosaic Klinefelter syndrome have the same phenotype as individuals with non-mosaic Klinefelter syndrome
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Research Paper
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A study exploring the different variants and phenotypes of Klinefelter syndrome.
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Presentation
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AXYS conference 2018, a fantastic presentation discussing the fertility treatment options available for males with Klinefelter Syndrome.
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Presentation
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AXYS 2018 conference presentation by an occupational therapist talking about how therapy should be play based and can be integrated into several aspects of everyday life.
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Presentation
children conference teachers xxx xxxxy xxxy xxy xxyy xyy
AXYS annual conference 2018 presentation from a primary school teacher discussing how we can ensure all children have the opportunity to learn and thrive and how the primary school setting can be adapted to each child.
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Info Sheet
children teachers xxy
Some parents may choose not to disclose their child’s diagnosis. It is very helpful from a educator and teachers perspective to know what challenges a child faces to ensure they are supported in the best possible way from pre-school and throughout primary school.
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Submission
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Protecting the human rights of people born with variations in sex characteristics in the context of medical interventions.
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Info Sheet
children prenatal professionals xxy
There are many misconceived ideas and information about Klinefelter Syndrome/XXY, this myth busters information sheet is designed to answer and dispel some of the myths.
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Info Sheet
prenatal professionals xxy
An information sheet for expectant parents or individuals with a prenatal diagnosis of Klinefelter Syndrome/XXY
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Article
adults carer children professionals teachers xxy
Autism spectrum pathology in Klinefelter syndrome in a larger and more representative sample in epidemiological terms. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype.
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Article
adults carer children professionals xxy
Taurodontism is an isolated anomaly and is detectable before puberty. It can be associated with several syndromes and anomalies like Klinefelter Syndrome and trisomy21 or Down syndrome.
Taurodontic teeth could be a clinical sign of this syndrome and the pediatric dentist should refer for chromosome analysis.
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Article
children prenatal professionals xxy
Taurodontism is a rare dental anomaly in which the affected tooth has an enlarged and elongated body and pulp chamber with apical displacement of the pulpal floor.
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Research Paper
carer children professionals xyy
Objective:- To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult.
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Research Paper
adults carer mental health professionals xxy
The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.
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Article
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Bone age assessment (BAA) is a common radiological examination used in pediatrics to determine any discrepancy between a child’s skeletal age (the developmental age of their bones) and their chronological age (in years, taken from birth date).
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Article
adults mental health professionals teachers xxx xxxxy xxxy xxy xxyy
ADHD is a hereditary condition and has been recognised since the early 1900s. In the past it was known by other names such as minimal brain dysfunction and hyperactivity disorder.
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Info Sheet
adults mental health professionals xxx xxy xxyy
While many people consider ADHD to be a childhood disorder, ADHD is a complex lifelong neurobiological condition. ADDults with ADHD is a NSW organisation that can offer a lot of support to adults with an ADHD diagnoses.
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Info Sheet
adults mental health professionals xxx xxxxy xxxy xxy xxyy
Attention Deficit Hyperactivity Disorder (ADHD) is a manageable condition that affects approximately 5% of the world’s population. ADDults with ADHD is a NSW organisation that offers a lot of great information and support for adults with a diagnoses of ADHD.
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Article
adults carer mental health prenatal teachers xxxxy xxxy xxy xxyy
A simple overview of Klinefelter syndrome and variants
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Research Paper
carer children professionals teachers xxy
Klinefelter Syndrome is the most common sex chromosome aneuploidy in live male births, but less than 10% of cases are identified before puberty. Early diagnosis is essential to address age-specific challenges with timely treatment and rehabilitation to minimize the problems that patients with XXY face with and to mitigate some of the complications seen in late diagnosed cases.
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Research Paper
47xxy carer prenatal professionals teachers xxx
Children with sex chromosome trisomies (SCT) frequently show problems in language development. The study showed the importance of early detection of language risk factors in children with SCT, while also considering the use of compensatory strategies (e.g., the use of communicative gestures).
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Research Paper
adults carer professionals teachers xxyy
Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.
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Article
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Klinefelter syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited.
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Research Paper
adults children mental health professionals teachers xxy xxyy xyy
Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, and XXYY) include many symptoms seen in autism spectrum disorder (ASD), such as speech-language impairment, verbal cognitive deficits, and social difficulties.
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Info Sheet
prenatal professionals xxy
A guide for assessment and treatment follow-up from birth
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Research Paper
adults mental health professionals teachers xxx xxyy
A common, often underappreciated element in young boys and children with Klinefelter syndrome is the characteristic cognitive and behavioral patterns that could lead to an earlier diagnoses.
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Research Paper
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The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD.
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Article
adults carer children mental health professionals teachers xxxy xxy xxyy xyy
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.
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Article
adults children mental health prenatal professionals teachers xxxxy xxxy xxy xxyy
The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important.
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Article
adults carer children mental health prenatal professionals teachers xxy
Klinefelter syndrome (KS) is a common genetic disorder characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. In this review, we will provide the pediatrician with an update on what is known about the clinical manifestations and current treatment recommendations for boys and men with KS.
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Research Paper
adults children professionals xxyy
Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Tremor is a common finding in children and young adults with 48,XXYY syndrome.
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Research Paper
children professionals xxy
The objective of this study was to examine possible neuroana- tomical substrates of these cognitive and behavioral features during childhood and adolescence.
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Research Paper
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This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes.
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Article
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Letter to the editor: International Journal of Andrology
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Article
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Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do.
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Article
adults children professionals xxy
The document provides an overview of Osteoporosis and its importance with KS.
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Research Paper
adults children mental health professionals xxy
The aim of this work is to present a review of current literature about neurogenetic functions in KS, referring to both clinical and therapeutics aspects.
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Article
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We review aspects of epidemiology, endocrinology, metabolism, body composi- tion, and neuropsychology with reference to recent genetic discoveries.
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Article
adults children mental health professionals xxy
In collaboration with the Klinefelter’s Syndrome Association (KSA) we agreed to plan and deliver an impact study.
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Research Paper
children early intervention professionals xxy
This paper aims to review the possible signs of KS at different stages of life that could help achieve an early (or at least earlier) diagnosis.
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Research Paper
adults children xxy
To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.
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Research Paper
children xxy
We examine current evidence regarding risks and benefits of diagnosing KS at different ages.
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Research Paper
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Despite being the most common sex chromosomal disorder Klinefelter syndrome remains highly under‐diagnosed because of substantial variation in the clinical presentation.
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Info Sheet
children early intervention teachers xxy
These notes are intended for teachers and classroom assistants of boys who have a previous diagnosis of Klinefelter’s Syndrome
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Article
mental health
UCLA neuroscience researcher Alex Korb has some insights that can create an upward spiral of happiness in your life.
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Research Paper
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This paper studies brain morphometry variation associated with XXY males (Klinefelter’s syndrome) by using an automated whole-brain volumetric analysis method.
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Article
mental health
Psychiatric and neurological disorders have historically provided key insights into the structure-function relationships that subserve human social cognition and behavior, informing the concept of the ‘social brain’.
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Research Paper
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The aim of this work is to present a review of current literature about neurogenetic functions in KS, referring to both clinical and therapeutics aspects.
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Article
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Until now, only about one-quarter of all persons with KS received the diagnosis during their lifetimes.
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Research Paper
children xxy
The goals of androgen therapy for adolescents with hypogonadism are to promote linear growth and secondary sexual characteristics, and to permit the normal accrual of muscle mass, bone mineral content, and the adult regional distribution of body fat.
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Research Paper
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The study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD.
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Research Paper
adults xxy
A 20-year follow-up study of 50 hypogonadal males has been made. These males have been examined at mean ages of 27 and 37 and in the present study at a mean age of 47.
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Research Paper
children xxy
Klinefelter’s syndrome (KS) is associated with hypergonadotrophic hypogonadism in adulthood. However, limited information exists about the age at which hypogonadism occurs.
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Article
adults professionals xxy
Endocrinologist and hormone researcher Prof Jeffrey Zajac talks about the broad and transformative effects of testosterone on the male body.
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Info Sheet
children disclosure xxy
Many parents wonder how and when they should tell their son about his diagnosis of XXY syndrome, also commonly called Klinefelter syndrome. This guide offers some suggestions for talking with your son about XXY.
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Article
mental health
For decades, universities have provided academic safety nets, but students on the autism spectrum need a web of support that is far more nuanced and complex.
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Research Paper
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Purpose of review is to summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome.
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Book
children xxyy
This is a children’s book for kids with 48, XXYY. This book helps children and adolescents with XXYY understand their condition. Boys with XXYY will identify with and learn from Kyle as they read this book.
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Book
children xxx
Elizabeth and her Extra X is a children’s book for kids with Triple X or Trisomy X syndrome (47, XXX). This book helps children and adolescents with Triple X understand their condition. Girls with Triple X will identify with and learn from Elizabeth as they read this book.
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Book
children xyy
This book helps children and adolescents with XYY understand their condition. Though Jack’s condition presents him with many challenges throughout the story, he is able to work through each challenge in his own way. Boys with XYY will identify with and learn from Jack as they read this book.
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Book
children xxy
The story explores the genetics of XXY and addresses social, academic and medical aspects of this condition in an age-appropriate, fun way. Boys with XXY will identify with and learn from Gregory as they read this book.
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Book
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A Guide for Families and Individuals Affected by Extra X and Y Chromosomes.
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Research Paper
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Klinefelter syndrome and centers of competence, counselling, support groups, early screening,
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Research Paper
children xxy
In this review, we will provide the pediatrician with an update on what is known about the clinical manifestations and current treatment recommendations for boys and men with KS.
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Research Paper
xxx xxy
There is little of knowledge of the type and severity of executive dysfunction, and the impact on emotional and behavioral problems. The present study aims to provide in this.
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Research Paper
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A comparison of XXY, XYY, and XXYY syndromes
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Research Paper
children xxy
The objective of this follow-up study was to examine the effects of EHT on social behavior in boys with 47, XXY.
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Info Sheet
47xxy adults children NDIS xxx xxxxy xxxy xxyy xyy
This booklet will help you understand the path you will travel as the NDIS works with you.
It will provide an overview of what to expect at each stage.
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Workbook
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to prepare for the national disability insurance scheme assessment & planning meetings
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Research Paper
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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.
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Workbook
children xxx xxxy xxy xxyy xyy
This is an adapted tool from the NDIS planning workbook to reflect the needs of children aged between 0-12 years
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Research Paper
children xxy
Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years.
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Research Paper
adults xxy
The aim of this review was to meta-analyse the currently available data from subjects with KS regard- ing SRRs as the primary outcome. In addition, when available, PRs and live birth rates (LBRs) after the ICSI technique were also investigated as secondary outcomes.
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Research Paper
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Objective: To update the “Testosterone Therapy in Men With Androgen Deficiency Syndromes” guideline published in 2010.
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Research Paper
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Brain imaging in Klinefelter syndrome (47, XXY) (KS) may contribute to understanding the relationship between gene expression, brain struc- ture, and subsequent cognitive disabilities and psychiatric disorders.
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Research Paper
adults children prenatal xxy
The understanding of neurocognitive mechanisms driving social dysfunction is a major area of research in the field of autism spectrum disorders (ASD), a behaviorally defined psychiatric condition.
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