Análisis comparativo de los modos y funciones comunicativas en personas con enfermedades minoritarias: los casos de Syngap1 y de X frágil

Abstract

Background and aim

Rare or minority diseases, with a prevalence of 1 per 2,000 inhabitants, can often cause complex communication needs and intellectual disabilities. The aim of this study is to compare the expressive communicative profiles in 2 groups of people with 2 rare disease diagnoses: Syngap1 syndrome and Fragile X syndrome.

Participants and method

Information was collected from 13 participants (7 with Syngap1: 2 boys and 5 girls, mean age 10.27 years; 6 with fragile minority.

Results

No significant differences were found in communicative modes or functions, except in non-verbal communication, where people with a Syngap1 diagnosis made greater use of vocalizations and gestures. The only difference in communicative functions was affirmation or denial, which was more frequent in the fragile X group.

Conclusion

Both groups have complex communication needs, although the fragile X group shows greater ability in the use of language.