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. 2019 Jan;10(1):153-159.
doi: 10.1007/s12687-018-0374-4. Epub 2018 Jul 4.

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

Aimé Lumaka  1   2   3   4 , Toni Kasole Lubala  5 , Valérie Race  6 , Hilde Peeters  6 , Prosper Lukusa  1   3   4   6 , Koenraad Devriendt  7
Affiliations

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

Aimé Lumaka et al. J Community Genet. 2019 Jan.

Abstract

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.

Keywords: Behavioral manifestation; Checklist; Democratic Republic of Congo; Dysmorphism; Fragile X syndrome.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Distribution of cumulative scores for the three checklists. More than one third of patients had cumulative scores above the threshold score of 10 for Hagerman, 17 for Maes, and 5 for Guruju
Fig. 2
Fig. 2
Distribution of items in the three checklists. Hyperactivity was invariably far more prevalent than morphological signs in the three checklists
Fig. 3
Fig. 3
Distribution different CGG alleles. Only 21 alleles were observed including two intermediate alleles, and there was a clustering around the mean
Fig. 4
Fig. 4
Comparison of CGG distribution to four other African groups. Limitation in allele numbers in the four groups: the similar distribution for Mandeka, Wolof, Bamileke, and this study but the absence of many more alleles in Mbuti pygmies
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