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How Does Fragile X Syndrome Affect Speech and Language Skills? #51 | January 2008

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How Does Fragile X Syndrome Affect Speech and Language Skills? #51 | January 2008 How Does Fragile X Syndrome Affect Speech and Language Skills? #51 | January 2008 HILDREN WITH FRAGILE X SYNDROME (FXS), the most common known inherited cause of intellectual disability, typically experience communication difficulties. Children with other intellectual disabilities such as Down syndrome also experience communication difficulties. Further many boys with FXS (some estimates are as high as 35 percent) also are diagnosed with autism. CProfessionals who work with children with language impairments need to tailor language interventions. But what if language difficulties in children with FXS have a different cause than language challenges in children with Down syndrome or autism? Is having an intellectual disability or autism the root cause of the communication challenges in a child with FXS or does having FXS present a unique set of challenges? New research is beginning FPG researchers to answer these questions. Recent articles by FPG explore researchers in several journals communication explore different facets of communication in boys with challenges in FXS, boys with FXS and autism, boys with FXS, boys with Down syndrome, and boys developing typically. autism and Down These studies focused on boys syndrome because communication and other aspects of development are more severely affected in boys with FXS than girls. The findings will allow professionals to focus interventions efforts to best help children communicate effectively. This work is funded by the National Institute of Child Health and Human Development, National Fragile X Foundation, March of Dimes, and Ireland Family Trust. This snapshot summarizes the findings to date. Language Use This study looked at taped conversations between a researcher and child during a 45-minute play session designed to elicit language and social behaviors from children. The study examined the boys’ ability to maintain a topic of conversation, and how often they repeated themselves. Boys with FXS with and without autism repeated themselves more frequently during conversation than boys with Down syndrome or typically developing boys of the same nonverbal of similar mental age. Thus, when words are conceptually more mental age. In addition, boys with FXS with autism had a more difficult, the vocabulary comprehension of boys with FXS is more difficult time maintaining a topic of conversation than boys with impaired. This study also examined comprehension of syntax FXS and no autism, boys with and found that boys with FXS Down syndrome, or typically scored lower than younger developing boys. What is Fragile X Syndrome? typically developing boys at These findings suggest that similar mental ages. The boys while repetitive speech may be Fragile X Syndrome (FXS) is a single gene disorder on the X with FXS only (not autism) a defining feature of FXS, some chromosome that occurs in both males and females, but males are scored higher than the boys of the language characteristics usually affected more severely. The disorder can be passed down with Down syndrome in both that are typically associated with through generations in a carrier status, with increasing chances of comprehension of conceptually FXS, such as the ability to stay on the gene expanding into the full disorder. FXS shuts down the gene more difficult vocabulary and topic, may actually be a result of responsible for producing FMRP, a protein essential for normal brain syntactic structures. also having autism. Intervention function. A third study examined for boys with FXS should the number of different words focus on decreasing repetitive Testing for FXS is recommended if there is a family history of children used in conversation, language and increasing FXS or intellectual disabilities of unknown causes. In addition, if as well as their syntax. Boys with a pediatrician observes the following characteristics in a child or language that maintains the FXS used less variety of words topic of conversation. hears about these behaviors and characteristics from the parents of and shorter, less complex noun a young child, fragile X testing should be considered. and verb phrases and sentence structure in conversation than Vocabulary Developmental Features typically developing boys of the and Syntax Mental retardation same cognitive level. A first study examined Developmental delays These findings suggest that critical aspects of language Learning disabilities boys with FXS are delayed in development, receptive Pervasive developmental delays or autism language comprehension and vocabulary (words understood Communication/language delays production of vocabulary and when heard) and expressive Perseverative speech syntax. Vocabulary difficulties vocabulary (spoken words) appear to be more evident with using standardized tests. Boys Physical Features respect to comprehension of with FXS without autism were Large, prominent ears more complex information found to understand and use Long, narrow face and in conversation rather words just as well as typically Flat feet than on a standardized test developing boys of the same Single crease that extends straight across the hand (conversation places a greater mental age. The boys with FXS Double joints or loose joints demand on language processing with and without autism did Large testicles (seen in few young males but in the majority of and knowledge). Further, the not differ in comprehension or pubescent males) language difficulties of boys production of vocabulary. Both with FXS appear to reflect an overall delay in the ability to groups scored higher in their Behavioral Characteristics comprehension of vocabulary express themselves, rather Handflapping and/or handbiting than a specific grammatical or than the boys with Down Inattentiveness or hyperactivity vocabulary delay, since both syndrome. Easily overstimulated by touch expressive vocabulary and However, a second study Low frustration tolerance that may lead to tantrums or aggression syntax are impaired. Therefore, based on a standardized test Autistic-like features such as fascination with an unusual object or intervention should focus on where the vocabulary was event like spinning fans or running water both vocabulary and syntax more complex, found that Avoidance of eye contact with others (specifically, more complex boys with FXS regardless of Attention deficits structures) to improve the boys’ autism diagnosis scored lower Hyperactivity than typically developing boys ability to use language. 2 Speech larynx (where sound is generated). In addition to having a physical In the first study, speech examination of these features, children completed a series of oral production (the ability to motor exercises with speech (e.g., repeating words) and without pronounce words) was assessed speech (e.g., imitating mouth movements without using voice). using a single word standardized Researchers found that boys with FXS and boys with Down test. Boys with FXS pronounced syndrome had some structural differences compared to the single words as accurately as typically developing boys. younger, typically developing The study also compared the boys’ oral function to speech boys of the same mental age. function (the ability to say words). Boys with FXS like the typically In addition, the boys with FXS developing boys did better at speech function tasks than oral and the typically developing function tasks. For boys with boys pronounced words more Down syndrome, however, speech accurately than the boys with Down syndrome. function was lower than oral In the second study, speech production of boys with FXS with function. Further, both the boys and without autism were compared to the other groups on the with FXS and Down syndrome single word standardized test. The speech of boys with FXS did not repeated single syllable words with differ according to whether they had autism nor did it differ from greater accuracy than multiple typically developing boys. Boys with FXS and TD boys had higher syllable words, while the typically speech production scores than boys with Down syndrome. developing boys produced both In the third, ongoing study of speech during conversation, boys types of words with equal accuracy. with FXS were less understandable in conversation but did not These findings suggest that boys differ in their accuracy of sounds with FXS and Down syndrome both during conversation as compared have some atypical oral structure to typically developing boys of the and oral motor function, yet differ in certain oral-motor patterns. same mental age. The effects of these oral motor differences on speech production in In the fourth study, we found boys with FXS are not clear. that boys with FXS did not speak faster, but paused less often, than Conclusion typically developing boys of the These studies identify some of the communication difficulties of same chronological age during boys with FXS. Future research is needed to: conversation. However, boys with • Examine children’s use of language, including types of FXS spoke faster than younger repetitive speech, narration (retelling of an event), and typically developing boys of the repair strategies (reformulation of unclear messages) same mental age. • Determine the role of rate, intonation, and fluency These findings suggest that although boys with FXS are delayed in the speech intelligibility in of boys with FXS in in their speech production skills, their speech accuracy is similar conversation to that of younger children at a similar mental age. However, the • Conduct longitudinal studies to determine
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