Early Social Behavior in Young Children with Sex Chromosome Trisomies (Trisomy X, XXY, XYY)

Article Title: Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)

Authors: Bouw, Swaab, Tartaglia, Cordeiro, and van Rijn

Date of Publication: March 23, 2022

“Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1–7.5 years old, with SCT (N = 105) and control children (N = 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT.”

Rick Frith2022-05-16T14:10:26-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Autism Spectrum Disorder, Social Behavior|

Upstate New York Support Group Meeting

Sunday July 17, 2022
Lunch in the park
Noon to 4PM
NOTE: The venue for this meeting has changed! The meeting will now be held at Powder Horn Lodge at Powder Mills Park.

We have booked a park lodge with lots of room for outdoor activities and discussions
Bring a dish to pass and an outdoor/indoor game if you have one.
Hot dogs, hamburgers, veggie burgers, and drinks will be provided.

Details:
Park map: https://www2.monroecounty.gov/mcparks/user/maps/PMP.pdf

Directions: https://www.google.com/maps/place/Powder+Horn+Lodge/@43.0396785,-77.4826727,17z
Note: Although we have indoor space, please dress for the weather. Also proof of Vax is required.

Please RSVP Carrie Riby at carrieriby@gmail.com by 7/10 so we can order enough food.

Rick Frith2022-07-14T14:00:23-04:00Categories: Support Group Meeting|

Early developmental impact of sex chromosome trisomies on ADHD symptomology in young children

Article Title: Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children

Authors: Kuiper, Swaab, Tartaglia, and van Rijn

Date of Publication: June 18, 2021

“Individuals with sex chromosome trisomies ([SCT], XXX, XXY, and XYY)) are at increased risk for neurodevelopmental problems, given that a significant portion of the sex chromosome genes impact brain functioning. An elevated risk for psychopathology has also been described, including attention deficit-hyperactivity disorder (ADHD). The present study aimed at identifying early markers of ADHD, providing the first investigation of ADHD symptomology in very young children with SCT.”

Rick Frith2022-02-25T13:15:20-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: ADHD|

Onset and progression of puberty in Klinefelter syndrome

Article Title: Onset and progression of puberty in Klinefelter syndrome

Authors: Tanner, Miettinen, Hero, Toppari, and Raivio

Date of Publication: September 14, 2021

“Klinefelter syndrome (KS) (47,XXY and variants, KS) is the most common sex chromosome disorder in humans. However, little is known about the onset and progression of puberty in patients with KS. In this study, we describe the onset and progression of puberty in a large series of boys with KS in a single tertiary centre.”

Rick Frith2022-02-10T12:43:43-05:00Categories: 47,XXY (Klinefelter)|

The Need for Greater Awareness of Sex Chromosome Variations

Article Title: The Need for Greater Awareness of Sex Chromosome Variations

Author: Erin Torres, MSN, PMHNP-BC, RN-BC

Date of Publication: September 2021

From the article’s abstract: “Health care providers remain ill prepared to recognize these conditions and support patients and their families.”

Rick Frith2021-09-02T11:12:57-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|

XXYY Project Clinic Visit Stipend

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $480 stipend to help up to 10 families per calendar year with the costs to their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. This can be used to offset the visit to a clinic for an individual diagnosed with 48,XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. 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 for travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $480.

Clinic Visit Stipend Application Form

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $480 stipend to help up to 10 families per calendar year with the costs to their visit to an ACRC ( AXYS Clinical and Research Consortium) clinic. This can be used to offset the first visit to a clinic for an individual diagnosed with 48, XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete the application form below. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $480.

Clinic Visit Stipend Application Form

Rick Frith2022-11-22T15:05:45-05:00

The Story of Rapha, a Boy with 48,XXXY/49,XXXXY

RAPHA from Josh Rowe on Vimeo.

Rick Frith2022-10-19T12:59:56-04:00Categories: 48,XXXY, Mosaicism, Other Variations|Tags: XXXXY|

AXYS 2021 Virtual Family Conference: Email Communications Archive

2021 Conference Emails

April 14, 2021: Celebrate our Community

May 4, 2021: Spring 2021 Newsletter

Rick Frith2021-05-06T21:54:53-04:00

Social functioning and emotion recognition in adults with triple X syndrome (TXS)

Article Title: Social functioning and emotion recognition in adults with triple X syndrome

Authors: Otter, Crins, Campforts, Stumpel, Van Amelsvoort, and Vingerhoets

Publication Date: February 15, 2021

“Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women.”

Rick Frith2021-02-23T13:49:23-05:00Categories: 47,XXX (trisomy x)|

CME

Continuing Medical Education

XXY – Klinefelter Syndrome: Lessons for Healthcare Providers

These narrated PowerPoint lessons were used in a CME course. That course expired in 2023. We offer these as an excellent background for healthcare providers who serve adults with XXY.