Parent Perspectives on Educational Needs of Students with 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.

Supporting Students with Sex Chromosome Aneuploidies in Educational Settings

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.

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

<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.

Exploring academic and character strengths in students with sex chromosome aneuploidies

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 (N=377) 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.

A Large-scale Karyotype Analysis of Genetic Counselors and Fetuses Among Hakka Population in Southern China

Background: Karyotype analysis has been used in a clinical cytogenetic laboratory. A retrospective analysis of karyotype analysis in Meizhou area to provide valuable reference for clinical genetic counseling. A retrospective analysis of 5-year data of karyotype analysis from 5,289 peripheral blood samples and 2,882 fetuses between January 2015 and March 2020 in Meizhou area.Results: Chromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289). Among cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. There were statistically significant differences in the chromosomal abnormalities rate different types of patients. In addition, chromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882). Among fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The chromosomal abnormalities rate was higher than that in non-elderly pregnant women. Abnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area.Conclusions: Karyotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population.

The Correlation between Maternal Age and Fetal Sex Chromosome Aneuploidies: A 8-year Single Institution Experience in China

Background: Although a few studies have investigated the association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of these studies were limited to advanced age women and the results were conflicting. This study aimed to investigate maternal age-specific rates for common fetal SCAs (including 45,X, 47,XXY, 47,XXX and 47,XYY) in pregnant women of different ages that not only limited to advanced age women. We retrospectively investigated a 8-year experience of prenatal diagnosis for fetal chromosome aberrations by second-trimester amniocentesis at a university teaching hospital in China. 20,409 amniotic fluid specimens collected at 19–22+6 gestational weeks were included in this study. The women were categorized into five age groups (≤23, 24-28, 29-33, 34-38, 39+ years) based on maternal age at the time of amniocentesis and entered as a categorical variable in all samples. The correlation between fetal SCAs and maternal age was determined using the logistic regression analysis. A chi-square test was performed to compare the incidence of fetal SCAs among age groups. Results: A total of 179 cases of fetal SCAs were detected, and the incidence was 8.77‰ (about 1/114). The incidence of all SCAs increased significantly with advancing maternal age (SE, 0.014; odds ratio, 1.044; P=0.002), from 5.81 per 1,000 fetuses at the 24-28 years to 10.92 per 1,000 at the 39+ years. The incidence of all SCAs was also significantly different among age groups (χ2=10.197, P=0.037<0.05). Specifically, the incidence of 45,X (SE, 0.037; odds ratio, 0.916; P=0.017) and 47,XXY (SE, 0.024; odds ratio, 1.127; P=0.000) had significant correlation with maternal age, while the incidence of 47,XXX and 47,XYY had no correlation with maternal age (P=0.473; P=0.272, respectively). Conclusions: Maternal age was ascertained to be a strong risk factor for fetal SCAs.