Article Title: Klinefelter syndrome: going beyond the diagnosis
Authors: Butler, Srirangalingam, Faithfull, Sangster, Senniappan, and Mitchell
Date of Publication: August 10, 2022
“This review presents the contemporary approach to the provision of support for boys and adolescents with Klinefelter syndrome (KS) and their parents by practitioners who have a special interest in their clinical care and research.”
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.”
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.”
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.”
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.”
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.”
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.”
Article Title: Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategies
Authors: Fabrazzo, Accardo, Abbondandolo, Goglia, Esposito, Sampogna, Catapano, Giugliano, and Pasquali
Date of Publication: August 31, 2020
“We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient’s general and sexual life satisfaction.”
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.”
“Children with sex chromosome aneuploidies (SCAs) are often characterized in the literature by limitations and pathologies related to the genetic diagnosis. This study aimed to broaden the SCA phenotype by describing parent reported character and academic strengths. Parents of children with SCAs ages 3-21…responded to an electronic survey asking them to describe their child’s strengths in academic settings. Responses were coded for strengths-based content and analyzed using a mixed-methods content analysis approach. We identified overarching qualitative themes of Social Strengths and Assets for Learning. Quantitative results showed a pattern of overlapping strengths among the trisomy SCAs (perseverance and love of learning), with some significant differences between children with supernumerary X chromosomes (strengths in kindness) and those with an additional Y chromosome (strengths in curiosity, humor, and teamwork). Suggestions for future strengths-based research and educational practices to address academic. developmental and psychosocial risks are explored.”
