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

Thompson, Talia; Davis, Shanlee; Janusz, Jennifer; Frith, Erin; Pyle, Laura; Howell, Susan; Boada, Richard; Wilson, Rebecca L.; Tartaglia, Nicole

doi:10.1016/j.jsp.2022.06.002

Cited by 7 publications

(3 citation statements)

References 48 publications

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“…Parents strongly desire a balanced presentation of both positive and negative aspects of the condition [ 26 ]. While the literature has historically been focused on symptom characterization, studies are beginning to highlight relative strengths of children and individuals with these conditions, including kindness, honesty, being eager to please, and love of learning [ 57 , 58 ], which can be contextualized in reference to the parent–child relationship.…”

Section: Discussionmentioning

confidence: 99%

“…Parents cited a particular need for help in attaining educational support. Learning disorders are common among children with SCM and may be one of the first ‘soft’ symptoms identified by parents or educators [ 27 , 58 ]. Parents stressed challenges over navigating special education services, including state-specific requirements for Individualized Education Plans (IEP) or 504 plans.…”

Section: Discussionmentioning

confidence: 99%

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Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

Riggan,

Ormond,

Allyse

et al. 2024

BMC Pediatr

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Background The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. Methods We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords “genetic diagnosis delivery,” “genetic diagnosis disclosure,” “sex chromosome aneuploidy,” “Klinefelter syndrome” or “”47, XXY,” “Jacob syndrome” or “47, XYY,” “Trisomy X,” “Triple X” or “47, XXX,” and “48 XXYY from January 1, 2000, to October 31, 2023. Results Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis. Conclusion Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

Riggan,

Ormond,

Allyse

et al. 2024

BMC Pediatr

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“…Sex chromosomal aneuploidy with single X chromosomes, known as Turner syndrome, is seen in females. It is a developmental sexual disorder with X and Y chromosomes with female phenotype with a additional sex chromosomes like 47,XXY; 47,XYY; 48,XXXX; 48,XXYY and 49,XXXXY (Thompson et al, 2022). The most common cause or reason for sex chromosomal aneuploidy is non disjunction which occurs in post zygotic development or meiosis.…”

Section: Introductionmentioning

confidence: 99%

Fraccaro Syndrome (49,XXXXY): Case study in antenatal and postnatal from South Indian patients, an awareness to the human society

Flora Bai,

Sujithra,

Padhiar

et al. 2024

JEB

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Aim: 49, XXXXY syndrome is a rare chromosomal abnormality with an approximate incidence of 1:85000 – 1:100000. Early diagnosis is important to improve the quality of life of patient. This study was carried out to assess the chromosomal abberations in prenatal and postnatal sample of patients through cytogenetics study. Methodology: Sex chromosomal aneuplodies were performed in both amniotic fluid and peripheral venous blood samples. Cytogenetic studies such as Karyotyping was done in in-vitro culture cells by GTG banded metaphase slides. FISH test was conducted in raw sample to rule out low grade mosaicism and DNA isolated from both the samples to rule out the gain and loss of genes by Chromosomal microarray technique. Results: The two cases performed showed aneuploidy with pentasomy sex chromosomes in Karyotyping in all the metaphase analysed and FISH test resulted with five signals in sex chromosome with four copies of X chromosomes and one copy of Y chromosome in all the cells. There was no loss of genes and only gain of genes in X chromosomes as identified in Chromosomal microarray. Interpretation: Based on the findings, antenatal screening is essential and should not be avoided for any USG findings and biochemical screening. The test should not be limited only to trisomy studies. Extensive studies should be performed to rule out the genetic disorders. Chromosomal aneuploidies can be identified by cytogenetic studies like Karyotyping, FISH and Chromosomal microarray technique. Key words: Aneuploidy, Chromosomal microarray analysis, Cytogenetics, Fraccaro syndrome, Karyotyping, Pentasomy sex chromosome

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The emotional journey of adapting to prenatally identified trisomy X

Thompson,

Tisher,

Davis

et al. 2023

Journal of Genetic Counseling

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There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses associated with advances in noninvasive prenatal screening necessitate a better understanding of how trisomy X impacts family systems. This qualitative investigation aimed to describe the lived experience of parents of young daughters with prenatally identified trisomy X to guide genetic counseling. Semi‐structured qualitative interviews were conducted via teleconferencing with parents (n = 11) of girls with trisomy X, ages 6–44 months. A descriptive phenomenological approach was used to code transcripts for significant statements and reduce data into themes describing the experience of receiving a diagnosis of trisomy X and the experience of early parenting in this population. Participants described an emotional journey of adapting to prenatally identified trisomy X. Four descriptive themes included two related, yet distinct, life stages: Negative Diagnostic Experience and a Hopeful Early Childhood, as well as two ongoing experiences: Persistent Ambiguity and Coping with and Adapting to Uncertainty. Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure.

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

Cited by 7 publications

References 48 publications

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

Fraccaro Syndrome (49,XXXXY): Case study in antenatal and postnatal from South Indian patients, an awareness to the human society

The emotional journey of adapting to prenatally identified trisomy X

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