Media release

Bridges lit up in support of a new National Charity

31/7/2023

On 13th July the Mandurah Bridge, Matagarup Bridge, Mount Street Bridge, Sky Ribbon, Joondalup
Drive Bridge, and the Northbridge Tunnel shined brightly from sunset to sunrise to acknowledge
the official approval of the XYY Syndrome Association of Australia Inc. as a National Charity.


XYY Syndrome is a genetic condition that occurs in about 1:850 males and often remains
undiagnosed. The condition is caused by a random split in the cells, which creates an extra copy of
the Y Chromosome (XYY). Only males are born with XYY Syndrome and diagnosis can only be
confirmed by a genetic blood test.


XYY boys are often taller than average and may suffer from hypotonia (weak muscle tone). They
may also have delayed speech development and some learning difficulties, particularly those
related to executive function. Many boys display poor impulse control, particularly in the younger
and teenage years, and find it hard to both emotionally regulate and process sensory inputs.

These struggles in their earlier years have a significant impact on their social development, making it
difficult for them to form meaningful and lasting friendships and relationships. This leads to further
isolation and deterioration in self-worth.


There is a significant amount of research that still needs to be conducted in order for this condition
to be understood and adequately supported, ensuring all XYY boys and men have an equal
opportunity to live fulfilled lives.


Recognition of XYY Syndrome as its own stand-alone condition, requiring specific XYY-related
specialist intervention, is strongly needed to ensure access to vital therapies and support for males
with XYY Syndrome and their families.


In 2016, the Gilkes’, a local Western Australian family, were confronted with their four-year-old son
being diagnosed with XYY Syndrome, a condition they had neither heard of nor understood how
deeply it would affect their child’s daily life.


After numerous attempts to find the right support for their son, they were continually let down by
the system and had to fight each day to advocate for their son’s needs. The family never gave up
and they continue to this day to help close the gaps for those with XYY Syndrome.


Even though that was only a few short years ago, so little information, support, or understanding
for boys and men with XYY Syndrome was available. Unfortunately, the same applies today, which
is where the Gilkes’, their extended family, and the association team come in.


Amber Gilkes, founder and Chairperson of the XYY Syndrome Association of Australia Inc.
decided that the lack of knowledge, information, and support for those living and dealing with XYY
Syndrome had to change. This prompted the first steps in creating positive awareness, with the
creation of the XYY Australia support page on Facebook and an association website. Not only
were these platforms used to locate other families in a similar situation but also as a way to stop
the negative perception being portrayed online.


As a parent of a child with XYY Syndrome, Mrs Gilkes understands all too well the need for
support, understanding, and community education on this specific condition. Her heart has always
been centered around the needs of her son, but due to the enormous gap in knowledge,
understanding, and support for those living and dealing with XYY Syndrome, the focus has
extended towards creating positive awareness and advocating for other families, boys and men in
need of extra support.


Amber Gilkes said, “The XYY Syndrome Association of Australia Inc. is championing the
awareness of XYY Syndrome. It focuses on providing the community with a positive understanding
of XYY Syndrome and support for those diagnosed, their families, and carers. It’s been a seven year journey to establish the Association and has been made possible only through the tireless efforts of raising awareness of XYY Syndrome within my local community, however further
awareness and support are required from the broader community, extending to state and federal
level.”


To celebrate the accomplishment of being granted National Charity status the XYY Syndrome
Association of Australia Inc. hosted an event to promote their cause and thank their supporters
who have helped them achieve this amazing milestone.

They are extremely grateful for the generosity of Brewvino Mandurah who had kindly donated their venue for this significant occasion.
From this prime Mandurah location overlooking the water, there will be an uninterrupted view of the
Mandurah Bridge lit up in their charity colours of green and yellow from sunset to sunrise.


In addition to their wonderful supporters, the guest list was extended to ministers from health and
education, WA Genetics, medical specialists, representatives from the health department, and
local MP’s and Councillors in order to promote further awareness of XYY Syndrome and how the
wider community can support those diagnosed.


Website: https://xyyaustralia.org/


XYY Syndrome Mission:
Creating awareness for XYY Syndrome by obtaining and providing the latest research for XYY
families and the community.
Networking with government services, medical specialists, general practitioners and educators to
create a better understanding for XYY Syndrome.
Rare Syndrome recognition for XYY Syndrome within State and Federal Government and
educational systems.


List of sponsors for this National Charity event
Brewvino Mandurah
Lions Club of Mandurah Inc.
Lions Club of Falcon Inc.
City of Mandurah – bridge
Main Roads Western Australia – Bridge and landmarks across Perth
Software First
No idea solutions
Kelly’s Hot water, Gas and Air
Lisa Munday- Labor Member for Dawesville
Kim Giddens – Labor Member for Bateman
SEA WEST – Mandurah cruises

Western Australian Charity Launch

What an amazing day at our Western Australian Charity Launch.

We had fantastic support from our local businesses around Lakelands and Mandurah WA.

When creating positive awareness for XYY Syndrome, it is very important to have the community behind us.

With your help, you can give support to the XYY community by showing them they are not alone.

A special thank you to Lakelands Library for their on going support throughout the XYY journey.

XYY Syndrome WA Charity launch 2019
XYY Syndrome WA Charity Launch Mandurah Mail local newspaper
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019

Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019
Western Australia Charity Launch for XYY Syndrome 2019

Thank you to everyone that attended, you helped create that next stepping stone for positive awareness for XYY Syndrome.

One step at a time we will make a difference!

Media release

MEDIA RELEASE: 5/7/19

WHY THE EXTRA CHROMOSOME?

Newly accredited W.A. Charity, XYY Syndrome Association of Australia Inc., invites you to learn more about this rare genetic syndrome at their launch event on Tuesday 23rd July at Lakelands Library and Community Centre.

Chairperson XYY Syndrome Association of Australia Inc., Amber Gilkes said her Association was championing the awareness for this syndrome which was caused by a random split in the cells, which creates an extra copy of the Y Chromosome (XYY).

Only males are born with XYY Syndrome and diagnosis can only be confirmed by a genetic blood test. XYY Syndrome occurs in 1:850 males, but some XYY males often remain undiagnosed.

Mrs Gilkes said the XYY Syndrome Association of Australia Inc. focus is providing the community with a positive understanding of XYY Syndrome and give support to XYY males, their families and carers.

“As a parent of a child with XYY Syndrome, I understand all too well the need for support, understanding and community education on this important condition.

It’s been a four-year journey to establish the association, raising the awareness of XYY within the broader community and at a state and federal government level,” said Mrs Gilkes.

In line with the Associations objectives, late last year, Amber Gilkes presented at The Western Australian Association of Teacher Assistants Inc. (WAATA) Conference and attended the Focus Foundation’s Conference in Brisbane as a representative of XYY Syndrome Association of Australia Inc.

Standing Tall For XYY Syndrome

Creating positive steps for XYY Syndrome.

XYY Syndrome Awareness

XYY SYNDROME MADE THE PAPER!

Today I attended an event “Light Up Lakelands – Local Heroes” as I had been nominated in recognition for my efforts in creating awareness for XYY Syndrome.

It was a wonderful morning, meeting the other nominees, making connections within the local community and raising the profile of XYY Syndrome.

Thank you to everyone for nominating me as a finalist, creating awareness is very important for the future of families, like ours, experiencing life with XYY Syndrome.

 

Summary of XYY Syndrome studies

A Summary of Recent Research Papers on 47, XYY (XYY)

XYY Syndrome confirmed by a blood test is a rare genetic disorder. Both the chromosome aneuploidy disorders, 47,XYY (XYY) and 47,XXY (Klinefelter syndrome, KS) only affects males, and although both disorders are relatively common, they are under-diagnosed, (Ross et al, 2010). Some of the physical aspects of XYY syndrome include tall stature and flat feet as well as neurological, cognitive, and behavioural phenotypes (Ross et al, 2010). Bardsley, et al., (2013) points out that although 1:1000 boys have the karyotype 47, XYY (XYY), there is a lack of information about this disorder, and approximately 85% or more of males with XYY are never diagnosed. Recent studies typically describe boys diagnosed for clinical reasons in the first decade of life because of developmental delays, behavioural issues and tall stature. Language delays have been recognised in various studies of XYY (Bardsley, et al 2013, Ross, et al 2012, Ross, et al 2015), Tartaglia et al 2015).

Ross et al (2012), found that the XYY boys studied had verbal learning disabilities, attention deficits, delayed speech development requiring speech therapy, an increased risk of impulsivity and difficulties related to behavioural dysregulation. In both this research and Bardsley, et al (2013), research found nearly all the XYY boys studied needed speech and/or reading therapy, most of them also needed occupational and /or physical therapy with half of them receiving special education services at school. Bardsley, et al (2013), in their research found even higher percentages of XYY boys needed these services. Ross et al (2012), research also found that boys with XYY have an increased risk for features consistent with Autism Spectrum Disorders (ASD). These include features that overlap considerably with ASD, such as language disorders, other social deficits, and anxiety/withdrawal symptoms.

Various research on XYY shows that boys with this disorder can have varying degrees of learning difficulties. Previous research shows that Verbal IQ is limited by delayed speech development and it is a common factor with XYY boys, that they need speech therapy and extra help in the school environment, (Ross et al, 2010).

In a study contrasting the behavioural and social phenotypes included a screen for autistic behaviours in boys with 47,XYY and KS it was found that a subset of the XYY and KS groups had behavioural difficulties that were more severe in the XYY group. The researchers recommended that boys diagnosed with XYY or KS should receive a comprehensive psycho-educational evaluation. They should also be screened for learning disabilities, attention-deficit/hyperactivity disorder, and ASD (Ross et al 2012).

In a comparison study that included a control group, a research group found boys with XYY Syndrome as with KS have varying levels of language impairment at both simple and complex levels. Both the XYY and the KS boys performed less well, on average than the control group in tests of general cognitive ability, language, achievement, verbal memory, and in some aspects of attention and motor function. They found that there is some overlap in the cognitive phenotypes in these two disorders, especially in language dysfunction. The researchers found that the boys with XYY had more severe and pervasive language impairment and that the XYY boys and were less likely than the KS or the control group to complete the full evaluation because of a tendency for less cooperation for the evaluation. General cognitive profiles of both XYY boys and the KS boys showed decreased verbal and non-verbal abilities (Ross et al 2010).

Note: Non-completion of tasks seems to be a common theme with XYY boys and indicates that shorter assessments with breaks or alternative assessments would work better.

In language and achievement delayed speech, impaired word retrieval, speed of linguistic processing, expressive and receptive capabilities and processing of narration has been described in previous research in both XYY and KS groups. However, in Ross et al, (2010) research they pointed out that the XYY group appears to have a more severe and pervasive language impairment that the KS group. The researchers also found varying levels of complexity in oral and written language. The researchers noted a greater impairment in the XYY group, particularly for higher-level metalinguistics abilities. This was demonstrated by a significant difficulty in understanding figurative language, interpreting ambiguities in language, as well as in oral expression and verbal memory, (Ross et al, 2010).

This language impairment appears to have important academic implications. Boys with XYY produced lower achievement in reading and spelling, compared to both KS and the control group. The researchers’ findings are similar to previous studies in XYY and report school difficulties out of proportion to what would be expected based on IQ.

Often these boys have difficulty following school curricula and need educational support services in reading and writing. This research points out that XYY boys are at increased risk for having delayed motor milestones and impaired fine and gross motor function, coordination and tone. (Ross et al 2010).

Ross et al (2010) points out that the research on XYY and KS have important neuro-cognitive and educational implications. From the educational side, the difficulty in complex language processing and impaired attention as well as motor function identified in XYY and KS populations may be missed. This can be a challenge to educators. Further, Ross et al 2010 pointed out that it is critical for boys with both these disorders to receive appropriate education interventions that target their specific learning challenges, (Ross et al 2010), (Ross et al 2012).

The eXtraordinarY Kids Clinic was established in Colorado USA to provide comprehensive and experience care for children and adolescents with sex chromosome aneuploidies (SCAs) of which 47, XYY is included. The researchers, Tartaglia et al (2015) found that the rates of SCA diagnoses in infants and children are increasing in America and this clinic provides specialised interdisciplinary care to address associated risks. SCA children are born with an atypical number of X and/or Y chromosomes, and present a range of medical, developmental, educational, behavioural and psychological concerns. Tartaglia et al (2012) points out that SCAs are the most common chromosomal abnormalities in humans and are estimated to occur in 1:400 individuals. The addition of extra X and/or Y chromosomes leads to neuro-developmental differences, with increased risk for developmental delays, language-based learning, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Searle (2016) points out that sometimes children with the same genotype will show similar problems. However, even children with the same genotype can differ in some or even nearly all of their problems.

Importantly Tartaglia et al (2012) points out that there is there is significant variability in the presence and severity of associated neuro-developmental and psychological problems among individuals with SCA. However, the researchers commonly encountered patterns of weaknesses in language, verbal cognition, reading and executive function (EF). In the trisomy conditions (XXY, XYY and XXX) the majority of studies reported cognitive scores within the low average to average range. However, cognitive scores are often lower that expected for family history, and up to 85% of SCAs require special education supports for learning disabilities. In all SCA conditions, there are additional increased risks for emotional disorders including anxiety, depression, and other mood disorders, as well as medical problems such as seizure, which can make the neuropsychological and behavioural phenotypes even more complex.

Tartaglia et al (2015) found a lack of expertise with SCA among medical providers, psychologists, developmental paediatricians, and other specialist/therapists involved in the care of children with SCAs. As a result, parents/caregivers often do not have access to experienced providers who can incorporate all different aspects of SCA in to understanding how the child’s disorder affects their health, behaviour, learning, and overall daily functioning. This requires caregivers to ‘piece together’ evaluations, as well as to educate the professionals working with children about SCA. Tartaglia et al (2015) reported that there was a better understanding of SCAs but more is needed to educate healthcare providers, psychologists, therapists, and educators nationally about SCA conditions so that families receive better information after receiving a diagnosis.

Note: Parents and caregivers with XYY boys have found this a typical experience. (XYY Facebook feedback, 2016).

In another study by Tartaglia, et al (2012) looking at 4 types of SCA (XXY, XYY XXX and XXYY) they described attention problems, hyperactivity and impulsivity as behavioural features associated with SCA and found that children and adolescents with SCA are at an increased risk for ADHD symptoms.

Note: I found that most of the research on XYY comes out of the USA as the references below show. I only looked at current research to find a better solution to understanding XYY Syndrome. The eXtraordinarY Kids Clinic in the USA multi-disciplinary specialist approach are developing a better understanding of how the child’s SCA disorder affects their health, behaviour, learning, and overall daily functioning. Unfortunately, there is no such clinic in Australia.
Notes and summary – McArdle, A., MURP, BSc. (Env).

References:

Ross, J.L. Zeger, P.D., Kushner, H., Zinn, A.R., and Roeltgen, D.P., An extra X OR T chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47, XYY syndrome OR 47, XXY Klinefelter syndrome Dev Disabil Res Rev. 15(4): 309-317, doi:10.1002/3344.85. [PubMed:2010].

Ross, J.L., Roeltgen, D.P., Kushner, H, Zinn, A.R., Reiss, A., Bardsley, M.Z., McCauley, E., Tartaglia, N., Behavioral and Social Phenotypes I Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome, Pediatrics, 2012 Apr; 129(4): 869-778. http://www.ncbl.nim.nih.gov/pmc/articles/ PMC3356148/

Tartaglia, N., Howell, S., Wilson, R., Janusz, J., Boada, R., Martin, S., Frazier, J.B. Pfeiffer, M., Regan, Karen, McSwegin, S., Zeitler, P., The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy, Journal of Multidisciplinary Healthcare August 2015:8 323-334.

Tartaglia, N.R., Ayari, N., Hutaff-Lee, C., Boada, R., Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY, Journal of developmental and behavioural pediatrics: JDBP February 2012.

Bardsley, Z., Kowal, K., Levy C., Gosek, A., Ayart, N., Tartaglia, N., Lahlou, N., Winder, B., Grimes, S., Ross, J.l., 47, XYY Syndrome: Clinical Phenotype and Timing of Ascertainment. Journal of Pediatrics. 2013:vol 163, No.4, www.Jpeds.com

Searle, B., Chromosomes and Rare Chromosome Disorders in General, Unique The Rare Chromosome Disorder Support Group 1-8. http://www.rarechromo.org/html/ChromosomesAndDisorders.asp retrieved 28/5/2016.

Some definitions follow – but for further clarification search further on the internet.

Syndrome – Sometimes a particular chromosome disorder will give a similar pattern of problems. If enough children are born with the similar pattern, it is called a Syndrome.
Chromosome – Searle, B, (2016), explains that apart from the mother’s egg cells or the father’s sperm cells, every cell in the human body normally contains 23 pairs of chromosomes, with 46 chromosomes in total in each cell. The first 22 pairs of chromosomes are called the Autosomes and are numbered from 1 to 22 according to their length, starting with no 1 as the longest. The 23rd pair of chromosomes are called the Sex Chromosomes. Sex chromosomes are labelled X or Y. Males normally have one copy of the X chromosome and one copy of the Y chromosome in each cell, while females normally have two copies of the X chromosome and none of the Y chromosome.
Rare Chromosome Disorders (RCD) – Searle, B, (2016) explains RCDs include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down’s Syndrome. The amount of chromosome material duplicated, missing or re-arranged can vary a great deal. This means that it may be difficult to identify two people who have exactly the same chromosome disorder. The clinical problems of those affected can also vary enormously even when the chromosome diagnoses are similar.
Aneuploidy – is the presence of an abnormal number of chromosomes in a cell eg. 45 or 47 chromosomes.
Genotype – is a description of a person’s chromosome make-up.
Phenotypes – is the observable physical characteristics of a person’s genotype.
Karyotype – gives the bigger picture seen under a light microscope
Behaviour Dysregulation – behavioural impairment in the regulation of a metabolic, physiological, or psychological process
Cognitive Impairments – describes certain limitations in skills such as communication, self-help, and social skills. These limitations will cause a child to learn and develop at a slower rate.
Executive Dysfunction – is a disruption to the efficiency of the executive function, which is a group of cognitive processes that regulate, control and manage other processes.
Neurodevelopmental Disorders – impairment and development of the brain that affects emotion, learning ability, self-control and memory and unfolds as the individual grows.