Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

[en] BACKGROUND: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing. METHODS: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis. All patients enrolled in clinical checklists trials of Fragile X syndrome were eligible for this review, with no exclusion based on ethnicity or age. Odds ratio values, with 95% confidence intervals as well as Cronbach coefficient alpha, was reported to assess the frequency of clinical characteristics in subjects with intellectual disability with and without the fragile X mutation to determine the most discriminating. RESULTS: The following features were strongly associated with Fragile X syndrome: skin soft and velvety on the palms with redundancy of skin on the dorsum of hand [OR: 16.85 (95% CI 10.4-27.3; alpha:0.97)], large testes [OR: 7.14 (95% CI 5.53-9.22; alpha: 0.80)], large and prominent ears [OR: 18.62 (95% CI 14.38-24.1; alpha: 0.98)], pale blue eyes [OR: 8.97 (95% CI 4.75-16.97; alpha: 0.83)], family history of intellectual disability [OR: 3.43 (95% CI 2.76-4.27; alpha: 0.81)] as well as autistic-like behavior [OR: 3.08 (95% CI 2.48-3.83; alpha: 0.77)], Flat feet [OR: 11.53 (95% CI 6.79-19.56; alpha:0.91)], plantar crease [OR: 3.74 (95% CI 2.67-5.24; alpha: 0.70)]. We noted a weaker positive association between transverse palmar crease [OR: 2.68 (95% CI 1.70-4.18; alpha: 0.51)], elongated face [OR: 3.69 (95% CI 2.84-4.81; alpha: 0.63)]; hyperextensible metacarpo-phalangeal joints [OR: 2.68 (95% CI 2.15-3.34; alpha: 0.57)] and the Fragile X syndrome. CONCLUSION: This study has identified the highest risk features for patients with Fragile X syndrome that have been used to design a universal clinical checklist.

Disciplines :

Genetics & genetic processes

Author, co-author :

Lubala, Toni Kasole

Lumaka Zola, Aimé ; Université de Liège - ULiège > Human Genetics

Kanteng, Gray

Mutesa, Leon

Mukuku, Olivier

Wembonyama, Stanislas

Hagerman, Randi

Luboya, Oscar Numbi

Lukusa Tshilobo, Prosper

Language :

English

Title :

Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

Publication date :

2018

Journal title :

Molecular Genetics and Genomic Medicine

eISSN :

2324-9269

Publisher :

Wiley, Hoboken, United States - New Jersey

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 18 January 2019

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