Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India

Guruju, Mallikarjuna R.; Lavanya, K; Thelma, B.K.; Sujatha, M.; OmSai, V.R.; Nagarathna, V.; Amarjyothi, P.; Jyothi, A.; Anandaraj, M.P.J.S.

doi:10.1016/j.jocn.2008.12.018

Cited by 13 publications

(13 citation statements)

References 30 publications

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“…Table summarizes the characteristics of included studies. It shows that six studies were from North America and Europe (Arvio, Peippo, & Simola, ; Bellavance & Morin, ; Butler, Brunschwig, Miller, & Hagerman, ; Hagerman et al., ; Lachiewicz, Dawson, & Spiridigliozzi, ; de Vries, Halley, Oostra, & Niermeijer, ), two from South to Central Asia (Guruju et al., ; Kanwal et al., ), two from Latin America and the Caribbean (Boy, Correia, Llerena, Machado‐Ferreira, & Pimentel, ; Christofolini et al., ), and one from Africa (Behery, ). We did come across two interesting fragile X syndrome studies from Sub‐Saharan Africa, but none of them met the criteria to be included in this study (Essop & Krause, ; Peprah, Allen, Williams, Woodard, & Sherman, ).…”

Section: Resultsmentioning

confidence: 99%

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

Lubala

Lumaka

Kanteng

et al. 2018

Molec Gen & Gen Med

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BackgroundClinical 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.MethodsAll 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.ResultsThe 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; α:0.97)], large testes [OR: 7.14 (95% CI 5.53–9.22; α: 0.80)], large and prominent ears [OR: 18.62 (95% CI 14.38–24.1; α: 0.98)], pale blue eyes [OR: 8.97 (95% CI 4.75–16.97; α: 0.83)], family history of intellectual disability [OR: 3.43 (95% CI 2.76–4.27; α: 0.81)] as well as autistic‐like behavior [OR: 3.08 (95% CI 2.48–3.83; α: 0.77)], Flat feet [OR: 11.53 (95% CI 6.79–19.56; α:0.91)], plantar crease [OR: 3.74 (95% CI 2.67–5.24; α: 0.70)]. We noted a weaker positive association between transverse palmar crease [OR: 2.68 (95% CI 1.70–4.18; α: 0.51)], elongated face [OR: 3.69 (95% CI 2.84–4.81; α: 0.63)]; hyperextensible metacarpo‐phalangeal joints [OR: 2.68 (95% CI 2.15–3.34; α: 0.57)] and the Fragile X syndrome.ConclusionThis study has identified the highest risk features for patients with Fragile X syndrome that have been used to design a universal clinical checklist.

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Section: Resultsmentioning

confidence: 99%

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

Lubala

Lumaka

Kanteng

et al. 2018

Molec Gen & Gen Med

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“…In a clinic-based study of 65 children with idiopathic mental retardation [28 ], sub-telomeric copy number variations were detected in 4.6% of children. Guruju et al [29 ] used a 15-item checklist to assess the clinical features in 337 institutionalized individuals with mental retardation of unknown cause and identified several families with fragile X syndrome through molecular diagnosis. They also described key features to screen for fragile X syndrome.…”

Section: Biomedical Researchmentioning

confidence: 99%

Perspectives of intellectual disability in India: epidemiology, policy, services for children and adults

Girimaji

Srinath

2010

Current Opinion in Psychiatry

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“…Such clinical variability points to the necessity to design population-specific checklists or adapt existing tools to the population of interest. Examples of population-specific checklists for FXS have been proposed for the Indian and Turkish population (Guruju et al 2009;Tuncbilek et al 1999).…”

Section: Introductionmentioning

confidence: 99%

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

et al. 2018

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Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight into the prevalence of FXS and the distribution of CGG alleles and to evaluate the usefulness of three checklists in specialized institutions in Kinshasa, DR Congo. We recruited 80 males and 25 females from six specialized institutions in Kinshasa and administered a questionnaire comprising items from the following FXS checklists: Hagerman, Maes, and Guruju. FMR1 CGG repeats were assessed for every patient. About 37% of patients were referable for FX testing based on Hagerman's checklist, 35% for Maes', and 43.80% for Guruju's, but none of them was molecularly confirmed to have FXS. Thus, specificities were 62.86, 64.76, and 56.5%, respectively, for Hagerman, Maes, and Guruju, respectively. The mean CGG allele size was 28.55 ± 2.83 (ranges, 17-48). The 29 CGG was the most frequent allele (24.61%). Thus, existing checklists should not be automatically applied to Congolese patients without adjustments. The distribution of CGG repeats and the number of CGG alleles are similar to other African studies.

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Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India

Cited by 13 publications

References 30 publications

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

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

Perspectives of intellectual disability in India: epidemiology, policy, services for children and adults

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

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