LANGUAGE AND COMMUNICATION IN FRAGILE-X-SYNDROME

In this article, we describe the language and communication problems o f individuals with fragile X syndrome (FXS). FXS is a common genetic d isorder resulting from a single-gene mutation on the X chromosome. It is associated with a wide spectrum of physical, behavioral, cognitive, and language problems. Males are typically more severely affected tha n females, with the vast majority of males having mental retardation. Language and communication are negatively affected by problems in oral -motor structure and function and by conductive hearing loss associate d with recurrent otitis media. Speech problems of males with FXS inclu de variability in rate and stuttering-like repetition of sounds. The p attern of speech problems displayed by males is unique to FXS and may reflect a form of developmental dyspraxia. Lexical development is seri ous delayed in males with FXS. It is less clear, however, whether lexi cal development keeps pace with achievements in cognitive development and whether receptive and expressive vocabularies are equally impaired . Morphosyntactic development is delayed in males with FXS, with recep tive morphosyntax being mental-age-appropriate. It is less clear wheth er expressive morphosyntactic keeps pace with mental age in affected m ales. Communication problems are characteristic of both males and fema les and include features that are syndrome-specific. Most notable amon g the features displayed by males with FXS is perseveration on a word, phrase, or topic in conversation. Several hypotheses have been advanc ed to explain this perseveration, but the most promising focus is on h yperarousal and frontal-lobe-executive function deficits. Females with FXS display a run-on, disorganized, and tangential style of conversat ion that may result from their well-documented frontal-lobe-executive function deficits. Language and communication intervention for affecte d individuals requires coordination of medical and behavioral approach es, with the involvement of professionals from several disciplines. Fu ture research must focus on females, on language problems suggested by clinical experience, and on connections between language and communic ation problems and problems at the neurological and molecular genetic levels. (C) 1997 Wiley-Liss, Inc.