Search

Clinical Question: Would a child with fragile X syndrome benefit more from phonemic awareness and phonics instruction or whole-word training to increase reading skills? Method: Systematic review. Study Sources: PsycINFO. Search Terms: fragile X OR Down syndrome OR cognitive impairment OR cognitive deficit OR cognitive disability OR intellectual disorder OR intellectual delay OR intellectual disability OR mental retardation AND whole word OR sight word OR phonological awareness OR phonics. Number of studies included: FXS = 0; DS = 6; ID = 17. Primary Results: There are currently no published peer-reviewed treatment studies testing reading interventions for children with fragile X syndrome. Phonological awareness and reading outcomes are correlated in children with fragile X syndrome, similar to the pattern seen in typical development. There is converging empirical evidence that phonologically-based approaches, often included as part of a comprehensive program, can be beneficial with children and adolescents with other developmental disabilities, including Down syndrome, intellectual disabilities, and autism spectrum disorder. Conclusions: More research is needed to determine what types of reading interventions are beneficial when working with children with fragile X syndrome. Given the lack of published empirical research in this area, clinicians should rely on existing evidence-based treatment data and professional judgment when determining which course of treatment to implement.

While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype. This study examined this question and investigated patterns of co-occurrence of broad autism phenotype traits within families of individuals with autism. Pragmatic language and personality features of the broad autism phenotype were studied in 42 fathers and 50 mothers of individuals with autism using direct assessment tools used in prior family studies of the broad autism phenotype. Higher rates of aloof personality style were detected among fathers, while no sex differences were detected for other broad autism phenotype traits. Within individuals, pragmatic language features were associated with the social personality styles of the broad autism phenotype in mothers but not in fathers. A number of broad autism phenotype features were correlated within spousal pairs. Finally, the associations were detected between paternal broad autism phenotype characteristics and the severity of children's autism symptoms in all three domains (social, communication, and repetitive behaviors). Mother--child correlations were detected for aspects of communication only. Together, the findings suggest that most features of the broad autism phenotype express comparably in males and females and raise some specific questions about how such features might inform studies of the genetic basis of autism.

On average, language and communication characteristics of individuals with Down syndrome (the most common genetic cause of intellectual disability) follow a consistent profile. Despite considerable individual variability, receptive language is typically stronger than expressive language, with particular challenges in phonology and syntax. We review the literature on language and literacy skills of individuals with Down syndrome, with emphasis on the areas of phonology, vocabulary, syntax, and pragmatics. We begin by describing the hearing, oral-motor, cognitive, social, and prelinguistic and early nonverbal communication characteristics of individuals with Down syndrome. We conclude with a discussion of clinical implications and research directions.