Original Article
‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies
Talia Thompson,
Nicole Stinnett, Nicole Tartaglia,
Shanlee Davis,
Jennifer Janusz,
Corresponding Author
Talia Thompson
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Address for correspondence
Talia Thompson,
Children’s Hospital Colorado,
13123 East 16th Avenue, Box B140,
Aurora, CO 80045
USA.
Email: [email protected]
Search for more papers by this authorNicole Tartaglia
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorShanlee Davis
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorJennifer Janusz
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorTalia Thompson,
Nicole Stinnett, Nicole Tartaglia,
Shanlee Davis,
Jennifer Janusz,
Corresponding Author
Talia Thompson
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Address for correspondence
Talia Thompson,
Children’s Hospital Colorado,
13123 East 16th Avenue, Box B140,
Aurora, CO 80045
USA.
Email: [email protected]
Search for more papers by this authorNicole Tartaglia
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorShanlee Davis
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorJennifer Janusz
University of Colorado School of Medicine, USA
Children's Hospital Colorado, USA
Search for more papers by this authorAbstract
Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. Parents of students with rare disorders such as SCAs possess a unique understanding of their child’s educational experiences and play a crucial role in the development of successful school support plans. This international survey study aimed to inductively capture parent perspectives on educational needs and supports for students with SCAs. Parents of youth with SCAs ages 5-21 years (n = 305) provided free-text responses to open-ended questions about their child’s education. Qualitative content analysis using a bioecological systems framework resulted in three overarching themes. Overall, parents identified multiple factors related to the SCA diagnosis that act as barriers to learning, a strong need for school-based social and emotional supports, and elusive or incomplete educational support plans. Based on these findings, 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 explored, such as providing school-based behavioral health supports and explicit teaching of executive function strategies.
Conflict of interest
We have no known conflicts of interest to disclose.
References
- Barger, M. M., Kim, E. M., Kuncel, N. R. & Pomerantz, E. M. (2019) ‘The relation between parents’ involvement in children’s schooling and children’s adjustment: A meta-analysis.’ Psychological Bulletin, 145 (9), pp. 855.
- Bender, B. G., Linden, M. G. & Harmon, R. J. (2001) ‘Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities.’ American Journal of Medical Genetics, 102 (4), pp. 309–13.
- Bender, B. G., Linden, M. G. & Robinson, A. (1993) ‘Oct 15). Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities.’ American Journal of Medical Genetics, 48 (3), pp. 169–73. https://doi.org/10.1002/ajmg.1320480312
- Berglund, A., Stochholm, K. & Gravholt, C. H. (2020) ‘The epidemiology of sex chromosome abnormalities.’ American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184 (2), pp. 202–15. https://doi.org/10.1002/ajmg.c.31805
- Boada, R., Janusz, J., Hutaff-Lee, C. & Tartaglia, N. (2009) ‘The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors.’ Developmental Disabilities Research Reviews, 15 (4), pp. 284–94. https://doi.org/10.1002/ddrr.83
- Brantlinger, E., Jimenez, R., Klingner, J., Pugach, M. & Richardson, V. (2005) ‘Qualitative studies in special education.’ Exceptional Children, 71 (2), pp. 195–207. https://doi.org/10.1177/001440290507100205
- Bronfenbrenner, U. (1994) ‘Ecological models of human development.’ Readings on the Development of Children, 2 (1), pp. 37–43.
- Cordeiro, L., Tartaglia, N., Roeltgen, D. & Ross, J. (2012) ‘Jul-Aug). Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes.’ Research in Developmental Disabilities, 33 (4), pp. 1254–63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22502852http://ac.els-cdn.com/S0891422212000418/1-s2.0-S0891422212000418-main.pdf?_tid=b7de6722-0835-11e7-80f8-00000aab0f26&acdnat=1489441427_c4bbcca624b2e223474b015554dcced2
- Dhuey, E. & Lipscomb, S. (2011) ‘Funding special education by capitation: Evidence from state finance reforms.’ Education Finance and Policy, 6 (2), pp. 168–201.
- El Nokali, N. E., Bachman, H. J. & Votruba-Drzal, E. (2010) ‘Parent involvement and children’s academic and social development in elementary school.’ Child Development, 81 (3), pp. 988–1005.
- Elbaum, B., Blatz, E. T. & Rodriguez, R. J. (2016) ‘Parents’ experiences as predictors of state accountability measures of schools’ facilitation of parent involvement.’ Remedial and Special Education, 37 (1), pp. 15–27. https://doi.org/10.1177/0741932515581494
- Fetters, M. D., Curry, L. A. & Creswell, J. W. (2013) ‘Achieving integration in mixed methods designs—principles and practices.’ Health Services Research, 48 (6pt2), pp. 2134–56.
- Fish, W. W. (2008) ‘The IEP meeting: Perceptions of parents of students who receive special education services.’ Preventing School Failure: Alternative Education for Children and Youth, 53(1), pp. 8–14.
10.3200/PSFL.53.1.8-14 Google Scholar
- Gershwin, T. & Vick, A. M. (2019) ‘Ally versus adversary behaviors: The utility of a special education advocate during conflict between parents and professionals.’ Journal of Disability Policy Studies, 29 (4), pp. 195–205.
- Glazzard, J. (2010) ‘The impact of dyslexia on pupils' self-esteem.’ Support for Learning, 25 (2), pp. 63–9.
10.1111/j.1467-9604.2010.01442.x Google Scholar
- Goldrich Eskow, K., Ann Summers, J., Chasson, G. S. & Mitchell, R. (2018) ‘The association between family–teacher partnership satisfaction and outcomes of academic progress and quality of life for children/youth with autism.’ Journal of Policy and Practice in Intellectual Disabilities, 15 (1), pp. 16–25.
- Hodge, S. R., Asola, E. & (2019) Special Education for Young Learners with Other Health Impairments. In F. E. Obiakor & J. P. Bakken (eds), Special Education for Young Learners with Disabilities. Advances in Special Education (Vol. 34, pp. 187–207). Bingley: Emerald Publishing Limited.
10.1108/S0270-401320190000034012 Google Scholar
- Jacobs, P. (1979) ‘The incidence and etiology of sex chromosome abnormalities in man.’ Birth Defects Original Article Series, 15, pp. 3–14.
- Janusz, J., Harrison, C., Boada, C., Cordeiro, L., Howell, S., Tartaglia, N. & Boada, R. (2020) ‘Executive function in XXY: Comparison of performance-based measures and rating scales.’ American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184 (2), pp. 469–81. https://doi.org/10.1002/ajmg.c.31804
- Jaramillo, C., Nyquist, C., Riggan, K. A., Egginton, J., Phelan, S. & Allyse, M. (2019) ‘Delivering the diagnosis of sex chromosome aneuploidy: Experiences and preferences of parents and individuals.’ Clinical Pediatrics, 58 (3), pp. 336–42.
- Kolbe, T. (2021) ‘State funding for special education: Aligning policy with priorities.’ Journal of Special Education Leadership, 34 (1), pp. 19–31.
- Leggett, V., Jacobs, P., Nation, K., Scerif, G. & Bishop, D. V. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review.’ Developmental Medicine & Child Neurology, 52 (2), pp. 119–29. https://doi.org/10.1111/j.1469-8749.2009.03545.x
- Linden, M. G. & Bender, B. G. (2002) ‘Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities.’ American Journal of Medical Genetics, 110 (1), pp. 11–8. https://doi.org/10.1002/ajmg.10394.
- Lundin, L. (2020) ‘Parental narratives online about ADHD.’ Social Work in Mental Health, 18 (6), pp. 684–703.
- Nespor, J. & Hicks, D. (2010) ‘Wizards and witches: Parent advocates and contention in special education in the USA.’ Journal of Education Policy, 25 (3), pp. 309–34. https://doi.org/10.1080/02680931003671954
- Nielsen, J., Pelsen, B. & Sørensen, K. (1988) ‘Follow-up of 30 Klinefelter males treated with testosterone.’ Clinical Genetics, 33 (4), pp. 262–9.
- Paz-Lourido, B., Negre, F., de la Iglesia, B. & Verger, S. (2020) ‘Influence of schooling on the health-related quality of life of children with rare diseases.’ Health and Quality of Life Outcomes, 18 (1), pp. 1–9.
- Pennington, B. F., Bender, B., Puck, M., Salbenblatt, J. & Robinson, A. (1982) ‘Oct). Learning disabilities in children with sex chromosome anomalies.’ Child Development, 53 (5), pp. 1182–92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7140426
- Phillips, E. (2007) ‘When parents aren't enough: External advocacy in special education.’ Yale LJ, 117, pp. 1802.
- Pugach, M. C. (2001) ‘The stories we choose to tell: Fulfilling the promise of qualitative research for special education.’ Exceptional Children, 67 (4), pp. 439–53. https://doi.org/10.1177/001440290106700401
- Ratcliffe, S. G. (1982) ‘Speech and learning disorders in children with sex chromosome abnormalities.’ Developmental Medicine and Child Neurology, 24 (1), pp. 80–4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7106407
- Resch, J. A., Mireles, G., Benz, M. R., Grenwelge, C., Peterson, R. & Zhang, D. (2010) ‘Giving parents a voice: A qualitative study of the challenges experienced by parents of children with disabilities.’ Rehabilitation Psychology, 55 (2), pp. 139.
- Richardson, J. P., Riggan, K. A. & Allyse, M. (2021) ‘The expert in the room: Parental advocacy for children with sex chromosome aneuploidies.’ Journal of Developmental & Behavioral Pediatrics, 42 (3), pp. 213–9.
- Riggan, K. A., Gross, B., Close, S., Weinberg, A. & Allyse, M. A. (2021) ‘Prenatal genetic diagnosis of a sex chromosome aneuploidy: Parent experiences.’ Journal of Genetic Counseling.
- Robinson, A., Bender, B. G. & Linden, M. G. (1990) ‘Summary of clinical findings in children and young adults with sex chromosome anomalies.’ Birth Defects Original Article Series, 26 (4), pp. 225–8.
- Rovet, J., Netley, C., Keenan, M., Bailey, J. & Stewart, D. (1996) ‘The psychoeducational profile of boys with Klinefelter syndrome.’ Journal of Learning Disabilities, 29 (2), pp. 180–96. http://www.ncbi.nlm.nih.gov/pubmed/8820203
- Saldaña, J. (2015) The Coding Manual for Qualitative Researchers. London: Sage.
- Sheridan, S. M., Warnes, E. D., Woods, K. E., Blevins, C. A., Magee, K. L. & Ellis, C. (2009) ‘An exploratory evaluation of conjoint behavioral consultation to promote collaboration among family, school, and pediatric systems: A role for pediatric school psychologists.’ Journal of Educational and Psychological Consultation, 19 (2), pp. 106–29.
- Skakkebaek, A., Bojesen, A., Kristensen, M. K., Cohen, A., Hougaard, D. M., Hertz, J. M., Fedder, J., Laurberg, P., Wallentin, M., Østergaard, J. R., Pedersen, A. D. & Gravholt, C. H. (2014) ‘Neuropsychology and brain morphology in Klinefelter syndrome - The impact of genetics.’ Andrology, 2 (4), pp. 632–40. https://doi.org/10.1111/j.2047-2927.2014.00229.x
- Skakkebæk, A., Moore, P. J., Pedersen, A. D., Bojesen, A., Kristensen, M. K., Fedder, J., Hertz, J. M., Østergaard, J. R., Wallentin, M. & Gravholt, C. H. (2018) ‘Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement.’ PLoS One, 13 (11), pp. e0206932.
- Starr, E. M. & Foy, J. B. (2012) ‘In parents’ voices: The education of children with autism spectrum disorders.’ Remedial and Special Education, 33 (4), pp. 207–16.
- Takacs, Z. K. & Kassai, R. (2019) ‘The efficacy of different interventions to foster children’s executive function skills: A series of meta-analyses.’ Psychological Bulletin, 145 (7), pp. 653.
- Tartaglia, N. R., Ayari, N., Hutaff-Lee, C. & Boada, R. (2012) ‘Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY.’ Journal of Developmental and Behavioral Pediatrics, 33 (4), pp. 309–18. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22333574
- Tartaglia, N., Howell, S., Wilson, R., Janusz, J., Boada, R., Martin, S., Frazier, J., Pfeiffer, M., Regan, K., McSwegin, S. & Zeitler, P. (2015) ‘The eXtraordinarY Kids Clinic: An interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy.’ Journal of Multidisciplinary Healthcare, 8, pp. 323.
- Thompson, C., Bacon, A. M. & Auburn, T. (2015) ‘Disabled or differently-enabled? Dyslexic identities in online forum postings.’ Disability & Society, 30 (9), pp. 1328–44.
- Thompson, T., Davis, S., Janusz, J., Frith, E., Pyle, L., Howell, S., Boada, R., Wilson, R. & Tartaglia, N. (2021) ‘Supporting Students with Sex Chromosome Aneuploidies in Educational Settings.’ OSF Preprints. https://doi.org/10.31219/osf.io/sk9tv
10.31219/osf.io/sk9tv Google Scholar
- Thompson, T., Davis, S., Takamatsu, S., Howell, S. & Tartaglia, N. (2022) ‘Exploring academic and character strengths in students with sex chromosome aneuploidies.’ Journal of Positive School Psychology, 6 (1), pp. 12–24.
10.47602/jpsp.v6i1.262 Google Scholar
- Thompson, T., Howell, S., Davis, S., Wilson, R., Janusz, J., Boada, R., Pyle, L. & Tartaglia, N. (2020) ‘Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. American Journal of Medical Genetics Part C: Seminars in Medical.’ Genetics.
- Tucker, V. & Schwartz, I. (2013) ‘Parents’ perspectives of collaboration with school professionals: Barriers and facilitators to successful partnerships in planning for students with ASD.’ School Mental Health, 5 (1), pp. 3–14.
- Urbanus, E., van Rijn, S. & Swaab, H. (2020) ‘A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention.’ Clinical Genetics, 97 (1), pp. 156–67.
- van Rijn, S. (2019) ‘A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47, XXY, 47, XXX, 47, XYY).’ Current Opinion in Psychiatry, 32 (2), pp. 79.
- van Rijn, S., Stockmann, L., van Buggenhout, G., van Ravenswaaij-Arts, C. & Swaab, H. (2014) ‘Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: A comparison with autism spectrum disorder.’ Genes, Brain, and Behavior, 13 (5), pp. 459–67. https://doi.org/10.1111/gbb.12134
- van Rijn, S. & Swaab, H. (2015) ‘Executive dysfunction and the relation with behavioral problems in children with 47, XXY and 47, XXX.’ Genes, Brain, and Behavior, 14 (2), pp. 200–8. https://doi.org/10.1111/gbb.12203
- Worcester, J. A., Nesman, T. M., Mendez, L. M. R. & Keller, H. R. (2008) ‘Giving voice to parents of young children with challenging behavior.’ Exceptional Children, 74 (4), pp. 509–25. https://doi.org/10.1177/001440290807400406
- Yell, M. L., Shriner, J. G. & Katsiyannis, A. (2006) ‘Individuals with disabilities education improvement act of 2004 and IDEA regulations of 2006: Implications for educators, administrators, and teacher trainers.’ Focus on Exceptional Children, 39 (1), pp. 1–24.
