47,XYY Archives - Page 2 of 6 - The Association for X and Y Chromosome Variations

Early impact of X- and Y-chromosome variations on social communication and social emotional development in 1–2-year-old children

Article Title: Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old children

Authors: Bouw, Swaab, Tartaglia, Jansen, and Van Rijn

Date of Publication: February 18, 2022

“These findings suggest that SCT [sex chromosome trisomies] impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.”

Rick Frith2022-12-02T13:45:58-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Social Behavior|

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

Rick Frith2022-11-11T16:32:26-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Mosaicism, Other Variations|Tags: NIPS, NIPT, prenatal|

Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

Rick Frith2022-10-20T14:33:20-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, All Variations, Mosaicism, Other Variations|Tags: NIPS, prenatal|

Mosaic double aneuploidy: Down syndrome and XYY

Article Title: Mosaic double aneuploidy: Down syndrome and XYY

Authors: Parihar, Koshy, and Srivastava

Date of Publication: July 2013

“Down syndrome (trisomy 21) is the most common aneuploidy seen in live born infants. Rarely, infants with typical phenotypic features of Down syndrome may have an additional aneuploidy. We report a patient with Down syndrome who had mosaicism for XYY. There is only one other report of such a patient.”

Rick Frith2022-10-19T13:09:07-04:00Categories: 47,XYY, Mosaicism|

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|

Emotional reactivity and expressivity in young children with sex chromosome trisomies

Article Title: Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data

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

Date of Publication: July 25, 2022

“Although sex chromosomal trisomies (SCT) in children are highly prevalent and associated with an increased risk for neurodevelopmental difficulties including socio-emotional problems, little is known about underlying mechanisms that could drive this risk. Studying emotional reactivity and expressivity of young children with SCT in early childhood could identify deviations in early emotional development and potentially serve as risk markers to guide clinical care in developing interventions.”

Supporting students with sex chromosome aneuploidies in educational settings

Article Title: Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Authors: Thompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia

Date of Publication: August 2022

“Many parents reported their children’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.”

Rick Frith2022-06-28T12:56:32-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: Education|

Detection and characterization of male sex chromosome abnormalities in the UK Biobank study

Article Title: Detection and characterization of male sex chromosome abnormalities in the UK Biobank study

Authors: Zhao, Gardner, Tuke, Zhang, Pietzner, Koprulu, Jia, Ruth, Wood, Beaumont, Tyrrell, Jones, Lango Allen, Day, Langenberg, Frayling, Weedon, Perry, Ong, and Murray

Date of Publication: May 16, 2022

“Purpose: The study aimed to systematically ascertain male sex chromosome abnormalities, 47,XXY (Klinefelter syndrome [KS]) and 47,XYY, and characterize their risks of adverse health outcomes.”

“Conclusion: KS and 47,XYY were mostly unrecognized but conferred substantially higher risks for metabolic, vascular, and respiratory diseases, which were only partially explained by higher levels of body mass index, deprivation, and smoking.”

Rick Frith2022-06-13T15:18:29-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

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|

‘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.”