![Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation and Intermediate Allele Carriers için kapak resmi Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation and Intermediate Allele Carriers için kapak resmi](/client/assets/d79c3e4af2b6d196/ctx/images/no_image.png)
Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation and Intermediate Allele Carriers
Başlık:
Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation and Intermediate Allele Carriers
Yazar:
Girnary, Zahra Saadat, author.
ISBN:
9780438112698
Yazar Ek Girişi:
Fiziksel Tanımlama:
1 electronic resource (115 pages)
Genel Not:
Source: Masters Abstracts International, Volume: 57-06M(E).
Advisors: Crystal Hill-Chapman Committee members: Jessica Klusek; Allyn McConkie-Rosell.
Özet:
Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with >200 repeats have FXS, while individuals between 45-54 and 55-200 repeats have the FMR1 intermediate allele and premutation, respectively. FXS is characterized by autism and intellectual disability while the premutation is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). However, recent research shows that the premutation may be associated with psychiatric manifestations. Currently, there are no established clinical features associated with the intermediate allele.
This study sought to 1) study knowledge regarding FXTAS, FXPOI, as well as the potential for psychiatric manifestations in individuals with the premutation; 2) study which features, if any, intermediate allele carriers exhibit, and 3) learn which resources are most helpful for FXS. Participants were recruited through online Facebook groups and completed one of two surveys. Results showed that 1) individuals in both groups overestimated their chances for FXS-related disorders; 2) significantly more individuals with the intermediate allele experienced depression/anxiety than expected; and 3) the most helpful resources for learning about FXS were internet websites and conversations with health providers and other individuals with the FMR1 premutation. These findings reveal that genetic counselors should place more emphasis on the genetics of FXS and its associated phenotypes to both groups and offer both traditional sources of support as well as referral to Facebook groups to facilitate conversations with others in similar situations.
Notlar:
School code: 0202
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Yer Numarası | Demirbaş Numarası | Shelf Location | Lokasyon / Statüsü / İade Tarihi |
---|---|---|---|
XX(689395.1) | 689395-1001 | Proquest E-Tez Koleksiyonu | Arıyor... |
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