47,XYY Archives - Page 2 of 5 - The Association for X and Y Chromosome Variations

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.”

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|

Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY)

Article Title: Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY): Supporting Social Cognitive Development Using a Neurocognitive Training Program Targeting Facial Emotion Understanding

Authors: Bouw, Swaab, and van Rijn

Date of Publication: February 25, 2022

“The significant improvement in facial emotion recognition, with large effect sizes, suggests that there are opportunities for positively supporting the development of social cognition in children with an extra X- or Y-chromosome, already at a very young age. This evidence based support is of great importance given the need for preventive and early training programs in children with SCT, aimed to minimize neurodevelopmental impact.”

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Rick Frith2022-03-03T11:28:23-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Early Intervention|

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|

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|