Turner syndrome interventions: Difference between revisions
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==Overview== | ==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== | ==Psychosocial interventions== | ||
*After assessing a patient’s strengths and weaknesses, an individualized syndrome specific approach should be followed which deals with the following issues: <ref name="pmid17562588">{{cite journal| author=Kesler SR| title=Turner syndrome. | journal=Child Adolesc Psychiatr Clin N Am | year= 2007 | volume= 16 | issue= 3 | pages= 709-22 | pmid=17562588 | doi=10.1016/j.chc.2007.02.004 | pmc=2023872 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17562588 }} </ref> | *After assessing a patient’s strengths and weaknesses, an individualized syndrome specific approach should be followed which deals with the following issues: <ref name="pmid17562588">{{cite journal| author=Kesler SR| title=Turner syndrome. | journal=Child Adolesc Psychiatr Clin N Am | year= 2007 | volume= 16 | issue= 3 | pages= 709-22 | pmid=17562588 | doi=10.1016/j.chc.2007.02.004 | pmc=2023872 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17562588 }} </ref> | ||
**Dealing with chronic issues such as cardiovascular disease, hearing loss and infertility with adaptive skills. | **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. | **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. | **Stress management to decrease [[anxiety]] and mood disturbances. | ||
**Efforts to improve self esteem and self perception. | **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. | **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<ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338 }} </ref> | **[[ADHD]] medication, use of verbal mnemonics, classrooms modeled to provide occupational and physical training may help in academic achievement<ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338 }} </ref> | ||
*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. | *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. <ref name="pmid12612263">{{cite journal| author=Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology| title=Health supervision for children with Turner syndrome. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 3 | pages= 692-702 | pmid=12612263 | doi=10.1542/peds.111.3.692 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12612263 }} </ref> | *[[Pediatricians]] may also refer to [[Turner syndrome]] support groups or arrange for meetings with parents of Turner syndrome patients. <ref name="pmid12612263">{{cite journal| author=Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology| title=Health supervision for children with Turner syndrome. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 3 | pages= 692-702 | pmid=12612263 | doi=10.1542/peds.111.3.692 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12612263 }} </ref> | ||
==Treatment of Infertility== | ==Treatment of Infertility== | ||
*Treatment approaches depend on the presence or absence of an adequate ovarian reserve. | *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. | **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. | *[[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. <ref name="pmid22218436">{{cite journal| author=Collett-Solberg PF, Gallicchio CT, Coelho SC, Siqueira RA, Alves ST, Guimarães MM| title=Endocrine diseases, perspectives and care in Turner syndrome. | journal=Arq Bras Endocrinol Metabol | year= 2011 | volume= 55 | issue= 8 | pages= 550-8 | pmid=22218436 | doi=10.1590/s0004-27302011000800008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22218436 }} </ref> | *Ovarian tissue [[cryobanking]] and immature [[oocyte]] collection followed by [[fertilization]] of matured oocytes is another promising approach. <ref name="pmid22218436">{{cite journal| author=Collett-Solberg PF, Gallicchio CT, Coelho SC, Siqueira RA, Alves ST, Guimarães MM| title=Endocrine diseases, perspectives and care in Turner syndrome. | journal=Arq Bras Endocrinol Metabol | year= 2011 | volume= 55 | issue= 8 | pages= 550-8 | pmid=22218436 | doi=10.1590/s0004-27302011000800008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22218436 }} </ref> | ||
Latest revision as of 15:04, 15 September 2020
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Risk calculators and risk factors for Turner syndrome interventions |
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.