Age-related language characteristics of children and adolescents with fragile X syndrome

Abstract

In addition to moderate-to-severe mental retardation (MR), the fragile X [fra(X)] mutation produces significant impediments in speech and language. Severe delays in speech and language have been demonstrated in both adult males and young individuals with the fra(X) mutation. Having observed longitudinal declines in IQ scores in young males with fra(X) and given the relationship between cognitive ability and language skill, we wanted to determine whether speech-language deficits in young males with fra(X) were age-related in ways comparable with those observed in cognitive deficits. We examined a small sample (n = 16) of children and adolescents, ages 6-17 years, using the Clinical Evaluation of Language Fundamental-Preschool (CELF-P). The CELF-P is used to evaluate language deficits in preschool children and assesses receptive and expressive language ability. It is standardized for children ages 3-7 years and provides age-normed standard scores. To evaluate changes in language scores, we converted raw scores into age-equivalents. Results indicate that males with fra(X) have significantly lower age equivalent scores compared with females. A cross-sectional analysis of males' age-equivalent scores reveals that a plateau is reached at approximately 48 months. Our findings suggest that, as with IQ and adaptive behavior scores, language development in young, fully mutated fra(X) individuals appears to reach a plateau as they age.

The Language Phenotype of Children and Adolescents With Noonan Syndrome

“…This relative synchrony between different domains in FXS has led some researchers to suggest that language development in this population may have a strong relationship with broader conceptual abilities (Abbeduto et al, 2003). Other identifiable factors that may play a role in accounting for language differences in FXS include gender (FXS is an X chromosome disorder that is generally milder in women; Abbeduto et al, 2003; Fisch et al, 1999) and presence/absence of autistic features (Philofsky, Hepburn, Hayes, Hagerman, & Rogers, 2004). Thus, many of the factors affecting language development in FXS and other individuals with intellectual disability may be general physical or cognitive features rather than specific processing systems.…”