Patterns of psychopathology and cognition in sex chromosome aneuploidy

Article Title: Patterns of psychopathology and cognition in sex chromosome aneuploidy

Authors: Rau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan

Date of Publication: December 15, 2021

“There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.”

Rick Frith2023-03-07T12:36:08-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: ADHD, Anxiety, Autism Spectrum Disorder, Cognition, Depression, Neuropsychiatry, Neuropsychology|

ACRC Clinic Visit Stipend Reimbursement Form

Rick Frith2022-11-22T15:33:55-05:00

ACRC Clinic Visit Stipend

ACRC Clinic Visit Stipend

AXYS is thrilled to offer a $500 stipend to help families with the costs to their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. In 2023 our goal is to award stipends to 10 people with each condition: XXY, XYY, Trisomy X, or XXXY. Those with XXYY visit our page for the stipend offered by the XXYY Project.

Notes:

This stipend is for those with confirmed X or Y variations. It is not for doctor visits to confirm a prenatal screening test.
It is not to be used for visits with the purpose of being in a research study, as most studies offer their own travel reimbursements.
We encourage all who visit ACRC clinics to join the GALAXY Registry.
Please also use this travel resource: Angel Flight NE, a 501(c)3 nonprofit organization that coordinates free air and ground transportation for medically stable patients seeking medical care for healthcare conditions require them to travel hundreds if not thousands of miles for the specialized care they need. The organization’s partners with volunteer pilots and commercial aviation partners who fly medically stable children and adults for free. Angel Flight NE (AFNE) has been providing services for 27 years assisting more than 108,000 patients who have flown over 15 million miles to 750+ medical facilities throughout the United States. AFNE’s mission/flight coordinators, who are available 24×7, use web-based system to schedule flight made possible by 400+ volunteer pilots or commercial airline partners. These flights are completely FREE of charge to the patient & family for as long & as often as they need to fly.

We ask that you:
1. Complete this application form. You will be notified that we have received your application.
2. After your visit, you will need to complete the reimbursement form and submit clinic visit related travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with an X or Y variation to visit an ACRC clinic. You can be reimbursed for receipt-supported expenses up to $500.

Clinic Visit Stipend Application Form

ACRC Clinic Visit Stipend

Notes:

This stipend is for those with confirmed X or Y variations. It is not for doctor visits to confirm a prenatal screening test.
It is not to be used for visits with the purpose of being in a research study, as most studies offer their own travel reimbursements.
We encourage all who visit ACRC clinics to join the GALAXY Registry.

We ask that you:
1. Complete this application form. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form and submit clinic visit related travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with an X or Y variation to visit an ACRC clinic. You can be reimbursed for receipt-supported expenses up to $500.

Clinic Visit Stipend Application Form

Rick Frith2023-09-25T14:19:51-04:00

Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Article Title: Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Authors: Pattamshetty, Mantri, and Mohan

Date of Publication: April 12, 2020

“Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases.”

Rick Frith2022-10-19T13:05:04-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

GALAXY Registry

GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

Since many of the X&Y variations are rare, we need to help doctors and researchers by having one registry where they can both add medical data and access data to craft medical articles. This will help the AXYS community get better, informed medical care. AXYS supports this registry. Dr. Shanlee Davis is the lead doctor for this project.

If you join the study, you are allowing information in your medical records to be used for research. Additionally, you have the option to complete questionnaires or join a recruitment list for future research. The registry webpage is accessed here: www.galaxyregistry.org

To learn more about this project, contact 720-777-0705 or email galaxy@ucdenver.edu.

(COMIRB# 20-0482, ; PI Dr. Shanlee Davis; funded in part by AXYS)

You can also enroll yourself/your child in the registry online without coming into clinic, click here for the eligibility and consent information.

View/Download the GALAXY Registry flyer

GALAXY Registry Dashboard

View this dashboard to see how many people are in the registry. We’re making great progress!

Rick Frith2022-11-16T14:27:55-05:00

AXYS 2023 Virtual Family Conference

Registered for the conference? Sign in here.

June 22 — June 27, 2023

Please mark your calendars for June 22 to 27, 2023. The schedule will be announced soon. While we are sad to not get together in person, we are happy to be able to offer our amazing educational sessions and social events to you in your home. It is our hope that this will allow the maximum number of individuals with an X&Y variation and their families to participate.

Speakers include Dr. Nicole Tartaglia, Dr. Shanlee Davis, Dr. Erin Torres and Dr. Sharron Close. More speakers will be added as we confirm their schedules. Topics include: testosterone, the GALAXY registry, research update, and fertility. We will gather by condition and by geography.

Volunteer to help plan the Conference
We are creating a list of potential volunteers. Please use this survey to sign up: https://www.surveymonkey.com/r/AXYS2023Volunteer

Conference Suggestions
The Conference Planning Committee is taking under consideration past conference attendee surveys, the surveys we have done prior to other conferences, and emails and conversations from our community. We are using this feedback and your suggestions to plan our 2023 AXYS Family Conference. If you have suggestions, please use this form to share them with the planning committee: https://www.surveymonkey.com/r/AXYS2023Input

We’re so happy you can join us! A quick reminder that all AXYS event attendees agree to abide by the AXYS Activities Conduct Policy. Please read this prior to attending an AXYS event.

Rick Frith2023-06-02T17:27:59-04:00

About Mosaicism

When a person is tested for X& Y variations, many cells are examined. When this test shows that a person has some cells with one number of chromosomes, and other cells having more or fewer chromosomes we call this being mosaic.

A person can be mosaic with any X or Y variation.

Some people with Klinefelter syndrome have 47,XXY/46,XY mosaicism. While some small studies found those with mosaic XXY have less severe symptoms that those who have XXY in 100% of their cells, we really do not know for sure. Note most people with XXY are not diagnosed during their lives, and XXY is a spectrum condition.

To understand how being mosaic for any X or Y variation may affect you or your loved one we strongly suggesting seeing a genetic counselor or a genetic medicine specialist.

Rick Frith2023-11-16T12:42:47-05:00

Early symptoms of autism spectrum disorder in children with sex chromosome trisomies

Article Title: Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention

Authors: Bouw, Swaab, Tartaglia, Wilson, van der Velde, and van Rijn

Date of Publication: September 15, 2022

“These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.”

Rick Frith2022-09-22T13:46:40-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Autism Spectrum Disorder|

About 48,XXXY

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48,XXXY syndrome, also known as XXXY syndrome, is a less common X and Y chromosome condition, affecting between 1 in 17,000 and 1 in 50,000 male births. 48,XXXY is caused when nondisjunction errors occur in the development of the egg or sperm, resulting in a male inheriting two extra copies of the X chromosome.

48,XXXY is associated with a variety of symptoms, but not everyone has the same symptoms or at the same level. Symptoms of 48,XXXY may include:

Learning problems ranging from learning disabilities to intellectual disability
Delays and disorders in speech and language
Delays in motor skills like sitting, standing, and walking and motor coordination difficulties
Low muscle tone
Birth defects, more commonly cardiac, genital, or musculoskeletal systems
Distinctive physical features like wider-set eyes and curvature in pinky fingers
Irritability, outbursts, and temper tantrums
Anxiety
ADHD
Impaired social skills, social communication problems, autistic traits
Hypogonadism and infertility
Risk for gynecomastia
Average to taller height
Dental problems
Neurological problems such as seizures, tremors or motor tics
Allergies, asthma, and eczema
Hormone problems including hypothyroidism and diabetes
Strabismus
Sleep apnea
Gastrointestinal problems including reflux, constipation and eosinophilic esophagitis
Musculoskeletal problems including flat feet, radioulnar synostosis, scoliosis, osteoporosis
Risks for blood clots
Impaired adaptive skills

Testing

48,XXXY can be identified during pregnancy via amniocentesis, CVS, or NIPS (screening test only). A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray. These tests can be ordered by most medical providers and are available through most major labs.