Turner syndrome interventions
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]
Overview
Psychosocial interventions aimed at treating visual spatial and executive function deficits along with in-vitro fertilization (for infertility) are the interventions commonly used in Turner syndrome.
Psychosocial interventions
- After assessing a patient’s strengths and weaknesses, an individualized syndrome specific approach should be followed which deals with the following issues: [1]
- Dealing with chronic issues such as cardiovascular disease, hearing loss and infertility with adaptive skills.
- Individual and group social skills training which will help the patient in self-monitoring and recognition one’s facial/body habitus.
- Stress management to decrease anxiety and mood disturbances.
- Efforts to improve self esteem and self perception.
- Strategies to compensate for cognitive weakness- using self talk to pay attention, focusing on one task, instead of several tasks at one time, paraphrasing what others said to ensure comprehension.
- ADHD medication, use of verbal mnemonics, classrooms modeled to provide occupational and physical training may help in academic achievement[2]
- These strategies are aimed for compensating the supposed deficits in the fronto-parietal pathways that are responsible for the disconnect between visuospatial and executive functioning during complicated tasks.
- Pediatricians may also refer to Turner syndrome support groups or arrange for meetings with parents of Turner syndrome patients. [3]
Treatment of Infertility
- Treatment approaches depend on the presence or absence of an adequate ovarian reserve.
- This is determined by serum gonadotrophin releasing hormone, serum LH levels, serum FSH levels, biopsy of ovarian tissue (to evaluate ovarian karyotype) and serum anti Mullerian hormone levels.
- In-vitro fertilization with donor oocytes and embryo transfer is the most common treatment modality.
- Ovarian tissue cryobanking and immature oocyte collection followed by fertilization of matured oocytes is another promising approach. [4]
References
- ↑ Kesler SR (2007). "Turner syndrome". Child Adolesc Psychiatr Clin N Am. 16 (3): 709–22. doi:10.1016/j.chc.2007.02.004. PMC 2023872. PMID 17562588.
- ↑ Shankar RK, Backeljauw PF (2018). "Current best practice in the management of Turner syndrome". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338.
- ↑ Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology (2003). "Health supervision for children with Turner syndrome". Pediatrics. 111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID 12612263.
- ↑ Collett-Solberg PF, Gallicchio CT, Coelho SC, Siqueira RA, Alves ST, Guimarães MM (2011). "Endocrine diseases, perspectives and care in Turner syndrome". Arq Bras Endocrinol Metabol. 55 (8): 550–8. doi:10.1590/s0004-27302011000800008. PMID 22218436.