Ann Pediatr Endocrinol Metab.  2023 Dec;28(4):258-266. 10.6065/apem.2244222.111.

Neurocognitive and psychosocial profiles of children with Turner syndrome

• Park SY
• Kim SJ
• Lee M
• Lee HI
• Kwon A
• Suh J
• Song K
• Chae HW
• Joo B
• Kim HS

• KMID: 2549318
• DOI: http://doi.org/10.6065/apem.2244222.111

Abstract

Purpose
Patients with Turner syndrome (TS) have distinct neurocognitive and psychosocial characteristics. However, few clinical studies have reported neuropsychological findings in Korean patients. This study investigated the neurocognitive and psychosocial profiles of Korean children with TS.
Methods
This retrospective cross-sectional study analyzed 20 pediatric patients (<18 years) with TS at the Department of Pediatric Endocrinology at Yonsei University Severance Children’s Hospital in South Korea from January 2016 to March 2019. We selected 20 age- and sex-matched controls from among those who visited the endocrinology clinic and were confirmed to have no clinical abnormalities. All participants underwent several neuropsychological tests.
Results
In the Korean Wechsler Intelligence Scale for Children-IV test, the Full-Scale Intelligence Quotient of the TS group was within the normal range. The Perceptual Reasoning Index, Working Memory Index, and Processing Speed Index scores were significantly lower in the TS group than in the control group. In contrast, the Verbal Comprehension Index did not differ significantly between the groups. The Comprehensive Attention Test results showed that the TS group displayed borderline visual selective attention. The social quotient score was significantly lower in the TS group than in the control group.
Conclusion
Pediatric patients with TS in Korea displayed distinct neurocognitive and psychosocial characteristics. Patients in the TS group maintained their verbal function, but their attention, visuospatial function, and social competence were low. Our findings will contribute to the development of education programs for patients with TS to improve their neurocognitive and psychosocial functioning.

Keyword

Turner syndrome; Neurocognitive phenotype; Psychosocial functioning; Child

Reference

References

1. Ranke MB, Saenger P. Turner's syndrome. Lancet. 2001; 358:309–14.

2. Heo YJ, Jung HW, Lee YA, Shin CH, Yang SW. Arterial stiffness in young women with Turner syndrome using cardio-ankle vascular index. Ann Pediatr Endocrinol Metab. 2019; 24:158–63.

3. Hutaff-Lee C, Bennett E, Howell S, Tartaglia N. Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. Am J Med Genet C Semin Med Genet. 2019; 181:126–34.

4. Culen C, Ertl DA, Schubert K, Bartha-Doering L, Haeusler G. Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 2017; 6:39–51.

5. Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev Disabil Res Rev. 2009; 15:270–8.

6. Mazzocco MM. The cognitive phenotype of Turner syndrome: specific learning disabilities. Int Congr Ser. 2006; 1298:83–92.

7. Green T, Shrestha SB, Chromik LC, Rutledge K, Pennington BF, Hong DS, et al. Elucidating X chromosome influences on attention deficit hyperactivity disorder and executive function. J Psychiatr Res. 2015; 68:217–25.

8. McCauley E, Feuillan P, Kushner H, Ross JL. Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr. 2001; 22:360–5.

9. Kiliç BG, Ergür AT, Ocal G. Depression, levels of anxiety and self-concept in girls with Turner's syndrome. J Pediatr Endocrinol Metab. 2005; 18:1111–7.

10. Lašaitė L, Krikščiūnienė R, Žilaitienė B, Verkauskienė R. Emotional state, cognitive functioning and quality of life of adult women with Turner syndrome in Lithuania. Growth Horm IGF Res. 2019; 45:37–42.

11. Avdic HB, Butwicka A, Nordenström A, Almqvist C, Nordenskjöld A, Engberg H, et al. Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study. J Neurodev Disord. 2021; 13:51.

12. Kwak KC, Park HW, Kim CT. Korean Wechsler Primary and Preschool Scale for Children manual. 3rd ed. Seoul (Korea): Special Education Publishing Co.;1995.

13. Kwak GJ, Oh SH, Kim CT. Korean Wechsler Intelligence Scale for Children IV manual for experts. Seoul (Korea): Hakjisa;2011.

14. Yoo HK, Lee JS, Kang SH, Park EH, Jung JS, Kim BN, et al. Standardization of the Comprehensive Attention Test for the Korean children and adolescents. J Korean Acad Child Adolesc Psychiatry. 2009; 20:68–75.

15. Kim HK. Assessment of memory disorders using Rey-Kim memory test. Korean J Rehabil Psychol. 2001; 8:29–48.

16. Shin MS, Koo HJ. Children's Color Trails Test. Seoul (Korea): Hakjisa;2007.

17. Kim YA, Lee J, Moon SJ, Kim YJ, Oh KJ. Standardization study for the Korean version of the child behavior checklist for ages 1.5-5. Korean J Clin Psychol. 2009; 1:117–36.

18. Kim SK, Kim OG. Social Maturity Scale. Seoul (Korea): Chung-Ang Juksung;2000.

19. Chung KM, Yang SK. A study for the standardization of the Korean Version of the Pediatric Quality of Life Inventory (PedsQL™) 4.0 Generic Core Scales, self-report. Korean J Health Psychol. 2012; 17:677–95.

20. Kovacs M. Children's Depression Inventory manual. North Tonawanda, New York: Multi-Health Systems. Inc.;1992.

21. Waber DP. Neuropsychological aspects of Turner's syndrome. Dev Med Child Neurol. 1979; 21:58–70.

22. Molko N, Cachia A, Riviere D, Mangin J, Bruandet M, LeBihan D, et al. Brain anatomy in Turner syndrome: evidence for impaired social and spatial–numerical networks. Cereb Cortex. 2004; 14:840–50.

23. Brown WE, Kesler SR, Eliez S, Warsofsky IS, Haberecht M, Reiss AL. A volumetric study of parietal lobe subregions in Turner syndrome. Dev Med Child Neurol. 2004; 46:607–9.

24. Haberecht MF, Menon V, Warsofsky IS, White CD, Dyer-Friedman J, Glover GH, et al. Functional neuroanatomy of visuo-spatial working memory in Turner syndrome. Hum Brain Mapp. 2001; 14:96–107.

25. Kesler SR, Haberecht MF, Menon V, Warsofsky IS, Dyer-Friedman J, Neely EK, et al. Functional neuroanatomy of spatial orientation processing in Turner syndrome. Cereb Cortex. 2004; 14:174–80.

26. Baker JM, Klabunde M, Jo B, Green T, Reiss AL. On the relationship between mathematics and visuospatial processing in Turner syndrome. J Psychiatr Res. 2020; 121:135–42.

27. Rourke BP, Ahmad SA, Collins DW, Hayman-Abello BA, Hayman-Abello SE, Warriner EM. Child clinical/pediatric neuropsychology: some recent advances. Annu Rev Psychol. 2002; 53:309–39.

28. Mammarella IC, Cornoldi C. An analysis of the criteria used to diagnose children with Nonverbal Learning Disability (NLD). Child Neuropsychol. 2014; 20:255–80.

29. Diamond A. Executive functions. Annu Rev Psychol. 2013; 64:135–68.

30. Lepage JF, Dunkin B, Hong DS, Reiss AL. Contribution of executive functions to visuospatial difficulties in prepubertal girls with Turner syndrome. Dev Neuropsycol. 2011; 36:988–1002.

31. Rickert VI, Hassed SJ, Hendon AE, Cunniff C. The effects of peer ridicule on depression and self-image among adolescent females with Turner syndrome. J Adolesc Health. 1996; 19:34–8.

32. Skuse D, Elgar K, Morris E. Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management. Acta Paediatr Suppl. 1999; 88:110–3.

33. van Pareren YK, Duivenvoorden HJ, Slijper FM, Koot HM, Drop SL, de Muinck Keizer-Schrama SM. Psychosocial functioning after discontinuation of long-term growth hormone treatment in girls with Turner syndrome. Horm Res. 2005; 63:238–44.