scholarly journals Parent Perspectives on Educational Needs of Students with Sex Chromosome Aneuploidies

2021 ◽  
Author(s):  
Talia Thompson ◽  
Nicole Stinnett ◽  
Nicole Tartaglia ◽  
Shanlee Davis ◽  
Jennifer Janusz
Keyword(s):  
Sex Chromosome ◽  
School Setting ◽  
Emotional Dysregulation ◽  
School Support ◽  
Survey Study ◽  
Parent Perspectives ◽  
Barriers To Learning ◽  
School Partnerships ◽  
Increased Risk ◽  
Sex Chromosome Aneuploidies

Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. This international survey study used qualitative methods and a bioecological systems framework to inductively capture parent perspectives on the challenges that occur in students with SCAs leading to the need for educational supports, how schools serve children with SCAs, and the types of educational supports that are most helpful. Analysis of parent responses emphasized that challenges with reading, executive function, reduced stamina, social skills deficits, and emotional dysregulation act as barriers to learning, and are frequently triggered by busy or noisy classroom environments led by educators unfamiliar with needs of students with SCAs. Further, skills hovering in the borderline range are common to the SCA phenotype, and are not often well served special education systems challenged by limited resources and strict cut-offs for qualification. Parents report the need to strongly advocate for their child to receive adequate school support services. We recommend developing robust family-school partnerships, increased collaboration between the school and the child’s medical team, and acknowledgement of the significant role the genetic condition plays in the educational experiences of students with SCAs. Specific suggestions for school support plans for students with SCAs are provided.

scholarly journals Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

2021 ◽  
Author(s):  
Talia Thompson ◽  
Shanlee Davis ◽  
Jennifer Janusz ◽  
Erin Frith ◽  
Laura Pyle ◽  
...  
Keyword(s):  
Academic Success ◽  
School Psychologists ◽  
Grade Retention ◽  
Sex Chromosome ◽  
Survey Study ◽  
Post Secondary ◽  
Increased Risk ◽  
Comprehensive Evaluations ◽  
School Supports ◽  
Sex Chromosome Aneuploidies

Children with sex chromosome aneuploidies (SCAs) are at an increased risk for neurocognitive and behavioral disorders that may interfere with academic success, including early developmental delays, learning disabilities, executive function problems, and social communication deficits. A national survey study aimed to update and extend our understanding of school supports and educational outcomes for students with these increasingly common genetic diagnoses. Parents of children with a diagnosed SCA, birth to 21 years, living in the U.S. (N=248), responded to an electronic survey with questions focused on school support plans, academic accommodations, educational therapies, school completion, and perceptions of educator awareness of SCAs. Results revealed high rates of delayed kindergarten, grade retention in primary years, and educational support plans (IEPs = 71%; 504 Plans = 26%). Despite a clear profile of educational need, a majority (73%) of respondents with children over age 18 (N=41) reported their child successfully completed high school, and nearly half (46%) pursued post-secondary education opportunities. Many parents reported their child’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.

No evidence of increased risk for schizophrenia or bipolar affective disorder in persons with aneuploidies of the sex chromosomes

2001 ◽  
Vol 31 (3) ◽  
pp. 425-430 ◽  
Author(s):  
O. MORS ◽  
P. B. MORTENSEN ◽  
H. EWALD
Keyword(s):  
Bipolar Disorder ◽  
Affective Disorder ◽  
Sex Chromosome ◽  
Bipolar Affective Disorder ◽  
Population Based ◽  
Turner’S Syndrome ◽  
Relative Risks ◽  
Central Register ◽  
Increased Risk ◽  
Sex Chromosome Aneuploidies

Background. Several case reports and reviews have suggested an increased incidence of schizophrenia or bipolar disorder among persons with sex chromosome aneuploidies, but this observation may have been caused by biased sampling.Methods. The 1122 individuals with sex chromosome aneuploidies registered in the Danish Cytogenetic Central Register were screened in the Danish Psychiatric Central Register for admissions with schizophrenia or bipolar affective disorder. Both registers are population based and have existed since 1968 and 1969 respectively. Relative risks were calculated for schizophrenia, bipolar affective disorder and either schizophrenia or bipolar disorder combined as one phenotype. Since hospitalization for a psychiatric disorder increases the probability that a cytogenetic examination is performed, the relative risks could be inflated, and they were therefore adjusted accordingly.Results. Aneuploidies of the X or Y chromosomes were not associated with an increased risk of schizophrenia or bipolar disorder. The occurrence of the combined phenotype including both schizophrenia and bipolar disorder was significantly reduced among persons with Turner's syndrome and significantly increased among individuals with the 47, XYY karyotype.Conclusions. This population-based study did not find evidence supporting the presence of risk alleles for schizophrenia or bipolar disorder on the X chromosome or the pseudoautosomal region on the Y chromosome. The findings of an increased risk for the combined phenotype to XYY males and the reduced risk for persons with Turner's syndrome are interesting but difficult to explain with present neurobiological knowledge and inconsistent with the other findings of the study.

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

2018 ◽  
Vol 38 (8) ◽  
pp. 617-619
Author(s):  
Katelynn G. Sagaser ◽  
Blair Stevens ◽  
Jessica Davis ◽  
Hope Northrup ◽  
Aarti Ramdaney
Keyword(s):  
Sex Chromosome ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals

2018 ◽  
Vol 58 (3) ◽  
pp. 336-342
Author(s):  
Carolina Jaramillo ◽  
Christina Nyquist ◽  
Kirsten A. Riggan ◽  
Jason Egginton ◽  
Sean Phelan ◽  
...  
Keyword(s):  
Medical Care ◽  
Sex Chromosome ◽  
Genetic Diagnosis ◽  
Accurate Information ◽  
Misleading Information ◽  
Telephone Interviews ◽  
Care And Support ◽  
Follow Up Care ◽  
Sex Chromosome Aneuploidies

Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.

The Transition to School Among Deaf/Hard-of-Hearing Children: Teacher and Parent Perspectives

2019 ◽  
Vol 24 (4) ◽  
pp. 396-407
Author(s):  
Anat Zaidman-Zait ◽  
Brenda T Poon ◽  
Deirdre Curle ◽  
Janet R Jamieson ◽  
Nancy Norman
Keyword(s):  
Hard Of Hearing ◽  
School Setting ◽  
Smooth Transition ◽  
Parent Perspectives ◽  
Transition To School ◽  
Teachers Experiences ◽  
Inclusive School ◽  
Teacher Reports ◽  
Hearing Children ◽  
Teachers Perspectives

AbstractAlthough entry into the school system is a major milestone in the lives of young d/Deaf or hard-of-hearing (DHH) children and their families, relatively little is known about parents’ and teachers’ experiences and perspectives of this important transition. The aims of this study were to describe parents’ concerns during their children’s transition from early intervention to school, to describe practices available for families of DHH children, and to explore parents’ and teachers’ perspectives regarding practices that support a smooth transition to school. Parents (N = 40) and teachers (N = 37) of the deaf and hard of hearing completed surveys examining their experiences and perspectives on DHH children’s transition to school. Among concerns expressed among parents was their child’s ability to participate successfully in an inclusive school setting, as well as the level of supports their child would receive. Teachers reported numerous policies and practices that supported the transition to school, emphasizing high-intensity practices often used to gather information about the child and set accommodations in place. Parent and teacher reports on facilitators for the transition are compared and contrasted. Recommendations for research and practice are provided.

scholarly journals The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

2021 ◽  
Author(s):  
Francisco Álvarez-Nava
Keyword(s):  
Cell Cycle ◽  
Turner Syndrome ◽  
Low Birthweight ◽  
Sex Chromosome ◽  
Heart Diseases ◽  
Cellular Growth ◽  
Proliferating Cells ◽  
Cycle Frequency ◽  
Increased Risk ◽  
New Findings

Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birthweight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

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