Systematic Review of Language Profiles for Boys under 18 with Fragile X Syndrome

Abstract

This systematic review analyses the current literature on early language profiles for boys under age 18 with Fragile X Syndrome. Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation on the X chromosome (AAIDD, 2013). The methodology of this review involved following the PRISMA guidelines in order to obtain the cohort of papers that qualified for this review. Two medical journal databases, Medline and Cochrane, were queried with terms relevant to this topic as per the inclusion criteria. Following this, exclusion criteria were applied, resulting in a cohort of 5 journals. These were then appraised as per the CASP programme assessing whether the study was valid or not, what the results were and whether the results were useful or not. All 5 of the journal articles met the CASP standards. The results of this review indicate very limited information on this developmental area. Deficits in conversational skills and severe developmental delay were noted in young boys with Fragile X Syndrome. In addition, increasing discrepancy between language level and chronological age was also recorded regularly. This review discusses that since so many of the features of Autism Spectrum Disorder, especially pragmatic language difficulties, are also present in Fragile X Syndrome, great difficulty lies in differentiating between these two conditions that share so many similar traits.