Other Variations Archives - The Association for X and Y Chromosome Variations

Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

What’s missing in sex chromosome aneuploidies? Representation and inclusion

Article Title: What’s missing in sex chromosome aneuploidies? Representation and inclusion

Authors: Mehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer

Date of Publication: January 2022

“Given that KS/TS happen by chance, theoretically, these rates should be similar across racial/ethnic groups. Namely, the rates of KS/TS should be similar among non-Hispanic Whites and Black, Indigenous, People of Color (BIPOC) communities. Currently, it is unknown to what extent HR-QoL has been examined in BIPOC communities affected by KS/TS. To provide culturally-informed care for all patients with KS/TS, it is critical to understand the experiences of BIPOC communities. We conducted a systematic review of the literature on HR-QoL in KS/TS to examine the extent that BIPOC communities have been included and represented in the literature to date.”

Rick Frith2023-03-07T10:56:34-05:00Categories: 47,XXY (Klinefelter), All Variations, Other Variations|Tags: BIPOC, Inclusion, Representation, Turner syndrome|

Variegation of autism related traits across seven neurogenetic disorders

Article Title: Variegation of autism related traits across seven neurogenetic disorders

Authors: Lee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan

Date of Publication: April 7, 2022

“Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs.”

Rick Frith2023-03-07T13:09:06-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, Other Variations|Tags: Autism Spectrum Disorder, Neuropsychiatry|

Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Article Title: Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Authors: Meredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers

Date of Publication: October 29, 2022

“While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.”

Rick Frith2023-02-14T14:04:39-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Mosaicism, Other Variations|Tags: NIPS, NIPT, prenatal|

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|

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|

‘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|