48,XXYY Archives - Page 2 of 4 - The Association for X and Y Chromosome Variations

‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with SCAs

Article Title: ‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies

Authors: Thompson, Stinnett, Tartaglia, Davis, and Janusz

Date of Publication: March 13, 2022

“Students with SCAs, have a unique educational profile that may be challenging to support within the schools. Challenges with reading and writing, EF, fatigue/endurance, social skills and emotion management may act as barriers to learning, and are frequently triggered in busy classroom environments. Skills hovering in the borderline range are common to the SCA phenotype and are not often well served by special education systems with limited resources and strict cut-offs for qualification. As a result, families may feel they need to advocate strongly for their child to receive adequate support services. To improve the educational experience of children with SCAs, we recommend increased collaboration between the school and the child’s medical team, strong parent partnerships and acknowledgement of the significant role the genetic condition plays in the educational experiences of students with SCAs.”

Rick Frith2022-03-15T13:35:24-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: Education|

Congenital heart defects associated with aneuploidy syndromes

Article Title: Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Authors: Lin, Santoro, High, Goldenberg, and Gutmark-Little

Date of Publication: November 7, 2019

“The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY).We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a ‘phenotype’ which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.”

Rick Frith2021-09-17T19:58:01-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, Other Variations|

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|

What microRNAs could tell us about the human X chromosome

Article Title: What microRNAs could tell us about the human X chromosome

Authors: Di Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza

Date of Publication: April 30, 2020

“MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed the highest density of miRNA sequences on the X chromosome; this evolutionary conserved mammalian feature equips females with a larger miRNA machinery than males. However, miRNAs contribution to some X-related conditions, properties or functions is still poorly explored. With the aim to support and focus research in the field, this review analyzes the literature and databases about X-linked miRNAs, trying to understand how miRNAs could contribute to emerging gender-biased functions and pathological mechanisms, such as immunity and cancer. A fine map of miRNA sequences on the X chromosome is reported, and their known functions are discussed; in addition, bioinformatics functional analyses of the whole X-linked miRNA targetome (predicted and validated) were performed. The emerging scenario points to different gaps in the knowledge that should be filled with future experimental investigations, also in terms of possible implications and pathological perspectives for X chromosome aneuploidy syndromes, such as Turner and Klinefelter syndromes.”

Rick Frith2021-03-03T14:31:39-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations|

ACRC Accomplishments

In 2015, the AXYS Board of Directors voted to approve the development of the AXYS Clinical and Research Consortium (ACRC). The two goals that AXYS defined at that time were to improve the availability and the quality of services to the X&Y variation community. As the ACRC grew, the original goals were refined to be as follows:

Make life easier for those seeking evaluation and treatment.
Bring consistency to treatment that is consensus and/or evidence-based.
Advance the overall X&Y variation field through coordinated efforts including research.
Bring clinical excellence to the field of X&Y variations.

Though each clinic operates independently, as members of a consortium, they collaborate with one another, share informational resources, and have the opportunity to participate in joint research projects.

In addition, AXYS organizes annual meetings of the consortium at which members meet to discuss topics important to the X&Y chromosome variation community. AXYS works to ensure that all families impacted by any of the chromosome variations have access to the best available evaluation and treatment or treatment recommendations.

Timeline of the ACRC

(Click on the year to see the accomplishments for that year.)

2014

• AXYS brought on Robby Miller as an experienced consultant to assist AXYS in creating the ACRC

2015

First meeting of ACRC 2015

• The formation committee, Dr. Tartaglia and Susan Howell of the eXtraordinarY Kids Clinic in Colorado, Jim Moore the AXYS Executive Director and Robby met. The consortium was formed.

• First ACRC meeting held in Denver

• AXYS Clinical Needs and Desires survey, supported by AXYS, Emory University and PCORI began

2016

• AXYS Clinical Needs and Desires survey concluded. Results presented to ACRC by lead investigator Dr. Sharron Close

• Launched with 8 founding clinics: Atlanta, Baltimore, Chicago, Denver, Los Angles, New York, Stanford, Wilmington

2017

• ACRC meets in Denver

• Discussed need for Adult clinics

• Added clinic in Wake-Forest

2018

• ACRC meets in Chicago

• Began Consensus Documents

• Added clinic in Philadelphia

2019

• ACRC meets in Atlanta

• Conducted study to pilot a process to form clinics for adults, funded by the WITH Foundation Grant. Study led by Sharron Close at Emory University and Susan Howell at Colorado Children’s Hospital.

• AXYS awarded grant from the Kosloski Family Foundation to create CME course on Klinefelter Syndrome in Adults

• Added clinics in Boston and Cleveland

Photo of 2019 ACRC meeting

2020

• First virtual ACRC meeting

• Held quarterly ACRC meetings with dedicated discussions on telehealth, Families of Color and Adult clinics

• Added clinic in New York, second clinic in Philadelphia for adults

• Added first international clinics in Vancouver, Canada and Århus, Denmark

• Expanded ACRC to include clinical researchers:

- Megan A. Allyse, PhD. Mayo Clinic, United States
- Christine Disteche, PhD, University of Washington, United States
- Claus Gravholt, MD, PhD, Aarhus University Hospital, Århus, Denmark
- Armin Raznahan MD, PhD, National Institutes of Health, United States
- Sophie van Rijn, PhD, Leiden University, The Netherlands

• Published first Consensus Documents

2021

• Added international clinic in London, UK

• Supported by grants from AXYS and The XXYY Project, GALAXY Registry project launched

2022

• The XXYY Project launches ACRC Clinic Visit Stipend

2023

• ACRC Clinic Visit Stipend expanded for all X&Y variations

• Added 2 ACRC Clinics (Sacramento and Chicago) for a total of 18 clinics

Rick Frith2023-10-25T12:01:21-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: ACRC|

The Expert in the Room

Article Title: The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies

Authors: Richardson, Riggan, and Allyse

Date of Publication: November 2, 2020

“Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs.”

Rick Frith2020-11-13T15:01:37-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: Advocacy|

Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Article Title: Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Authors: Nahata, Quinn, and Tishelman

Date of Publication: July 30, 2018

“Health care providers and parents report challenges in knowing how and when to discuss these issues. In this context, the goal of this clinical report is to review evidence and considerations for providers related to information sharing about impaired fertility and sexual function in pediatric patients attributable to congenital and acquired conditions or treatments.”

Rick Frith2020-10-09T12:25:06-04:00Categories: 47,XXY (Klinefelter), 48,XXXY, 48,XXYY, Other Variations|

Rare sex chromosome variation 48,XXYY: An integrative review

Article Title: Rare sex chromosome variation 48,XXYY: An integrative review

Authors: Blumling, Martyn, Talboy, and Close

Date of Publication: April 9, 2020

“48,XXYY presents with a wide spectrum of physical, psychological, and neurocognitive symptoms, and frequently requires complex interdisciplinary care. In order to better understand this disorder and to appropriately treat the individuals affected by it, future research should focus on experimental studies and research that utilizes a variety of methods, including participant interviews and patient-report surveys.”

Rick Frith2020-09-10T14:38:16-04:00Categories: 48,XXYY|

The Association of Motor Skills & Adaptive Functioning in XXY/Klinefelter & XXYY Syndromes

Article Title: The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes

Authors: Tartaglia, Davis, Martin, Cordeiro, and Richardson

Date of Publication: December 28, 2018

“Both conditions have been previously associated with motor delays and motor skills deficits. We aimed to describe and compare motor skills in males with XXY and XXYY syndromes, and to analyze associations with age, cognitive abilities, and adaptive functioning.”

Rick Frith2020-04-21T15:12:53-04:00Categories: 47,XXY (Klinefelter), 48,XXYY|

Emory University’s Amy Blumling: “Learning about things larger than you”

Article Title: Learning about thing larger than you

Author: Pam Auchmutey (Emory University, Nursing Magazine)

Date of Publication: Fall 2019

“As a School of Nursing doctoral student, Amy Blumling provides much-needed care to a special patient population at Emory Healthcare. Twice monthly, she and other providers see patients at the eXtraordinarY Clinic, the Southeast’s only clinic for children with sex chromosome disorders.”

Rick Frith2020-01-14T10:10:32-05:00Categories: 48,XXYY, All Variations|

48,XXYY

2014

2015

2016

2017

2018

2019

2020

2021

2022

2023

2014

2015

2016

2017

2018

2019

2020

2021

2022

2023