Language Challenges and Language Possibilities for Fragile X Syndrome

Language is critical in much of daily life. Making friends, learning in school and holding down a job, all require language. For people with more limited language, like so many with Fragile X syndrome (FXS), researchers and clinicians are trying to figure out ways of improving language so that inclusion in more of life’s activities will be possible.

In the Laboratory on Language Development in Neurodevelopmental Disorders at the MIND Institute, we have been conducting several research projects with the goal of improving language in individuals with FXS. In several of our projects, we are trying to understand the extent and nature of the language challenges that are part of the Fragile X phenotype. This is really a first step. If you don’t know what the problems are, you can’t really design useful programs of treatment.

In our research, we begin with the premise that language is not a unitary ability. Instead, language is comprised of a number of conceptually distinct, but inter-related, abilities.

• The most common ways in which language is conceptualized is as language understanding (reception) and language production (expression).
• Another way to conceptualize language is according to the domains of vocabulary ability (knowledge of words and their meanings) and grammatical ability (knowledge of word endings and sentence structure).

These distinctions, and others, are important because these different component abilities may be disrupted in different ways and to different degrees in different people. In our research, we have examined how skilled people with FXS are in the different components of language. We also try to understand the ways in which language challenges are different in FXS from other disabilities, like Down syndrome and autism, as well the ways in which language challenges differ among people with FXS. The following studies were all conducted with boys who have FXS. Here are a few of our findings.

In the area of vocabulary, we created an experimental task to determine how young boys with FXS begin to learn a new word when they first hear it. In several published studies, we found the following:

• Boys, ages four to ten, with FXS have the ability to link a new word with its meaning even after hearing the word only a few times; however, they are inconsistent in attending to cues like pointing, intonation and repetition, that would help them make the link.
• Unexpectedly, however, the boys with FXS often did better than boys with autism…even boys with autism who had higher IQs. We think that that the stronger social skills of boys with FXS helped them to learn the new words, suggesting that they could benefit from  interventions exposing them to new vocabulary words, especially in the context of a rich, sustained social interaction with a partner who can provide lots of social cues and practice to support word learning.
• In other studies, we found that boys with FXS in this age range were attentive to cues like the examiner’s eye gaze, affect and knowledge and tried to leverage those cues to learn new words, although, again, they were not always consistent in attending to or using these cues. Nevertheless, these findings reinforce the idea that language treatment for people with FXS should be embedded in rich and supportive social interaction, as opposed to a sterile drill-and-practice format.

If you want to read the details of these studies, see:

McDuffie, A., Kover, S. T., Hagerman, R., & Abbeduto, L. (2013). Investigating word learning in fragile X syndrome: A fast-mapping study. Journal of autism and developmental disorders, 43(7), 1676-1691.

Benjamin, D. P., McDuffie, A. S., Thurman, A. J., Kover, S. T., Mastergeorge, A. M., Hagerman, R. J., & Abbeduto, L. (2015). Effect of speaker gaze on word learning in fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder. Journal of Speech, Language, and Hearing Research, 58(2), 383-395.

Thurman, A. J., McDuffie, A., Kover, S. T., Hagerman, R., Channell, M. M., Mastergeorge, A., & Abbeduto, L. (2015). Use of emotional cues for lexical learning: A comparison of autism spectrum disorder and fragile X syndrome. Journal of autism and developmental disorders, 45(4), 1042-1061.

In the area of expressive grammar, we have developed procedures for measuring this component (and other components of language) that are more naturalistic and provide more information than a typical standardized test. We collect samples of expressive language produced during two activities: conversation with an examiner and narration of a wordless picture book. We follow a standardized protocol for collecting these conversational and narrative language samples. The standardization ensures that the materials and the examiner’s behavior are reasonably consistent across participants and times of assessment. The language samples are audiorecorded and transcribed by trained research staff into text files, which are then analyzed to provide us with information about each participant’s use of the rules of grammar.

We have published several studies using these procedures and found among other things:

• Males with FXS between about ten and 20 years of age produce less complex sentences than even younger typically boys, suggesting that grammar is an especially serious challenge for them.
• In general, males with FXS in this age range display different and generally less severe impairments in expressive grammar than males with Down syndrome of similar age and IQ, suggesting that their strong social interest and skill may be leveraged to help them learn language.
• Males with FXS who have lower IQs or more severe autism symptoms also have less well developed expressive grammar. This finding suggests that we may want to provide more intensive or different kinds of language treatment depending on these other factors.
• Males with FXS seem to do better in terms of expressive grammar in narration than conversation, which suggests that perhaps we can take advantage of their interest and skill in narration to embed treatments to improve their language in the context of storytelling.

If you want to read about the details of this research, please see:

Berry-Kravis, E., Doll, E., Sterling, A., Kover, S. T., Schroeder, S. M., Mathur, S., & Abbeduto, L. (2013). Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. Journal of developmental and behavioral pediatrics: JDBP, 34(4), 245.

Finestack, L. H., & Abbeduto, L. (2010). Expressive language profiles of verbally expressive adolescents and young adults with Down syndrome or fragile X syndrome. Journal of Speech, Language, and Hearing Research, 53(5), 1334-1348.

Kover, S. T., & Abbeduto, L. (2010). Expressive language in male adolescents with fragile X syndrome with and without comorbid autism. Journal of Intellectual Disability Research, 54(3), 246-265.

Kover, S. T., McDuffie, A., Abbeduto, L., & Brown, W. T. (2012). Effects of sampling context on spontaneous expressive language in males with fragile X syndrome or Down syndrome. Journal of Speech, Language, and Hearing Research, 55(4), 1022-1038.

Based on our research on the language challenges of individuals with FXS, we have observed firsthand the pressing need for language interventions tailored to this group of children. At the same time, however, we have observed areas of strength that we think can be leveraged through treatment. Thus, we have implemented a series of treatment studies targeting the spoken language of children and adolescents with FXS.

Our broad intervention aims have been to teach mothers strategies that can be used during every day parent-child interactions to provide enhanced verbal language input and encourage child participation in developmentally appropriate language learning activities. The type of intervention that aims to help children by teaching their mothers is known as a “parent-implemented intervention”. In this type of intervention, a speech and language clinician coaches and guides the parent who, in turn, acts as their child’s interventionist by interacting directly with the child. In addition, we have chosen to implement our language intervention program using video-teleconferencing technology. In this way we can deliver the intervention into family homes in a cost-effective manner that is accessible regardless of geographic location. This approach also allows us to implement the intervention in the natural environment of the family home, where language support strategies can be used by parents in a range of routines and activities throughout the day.

In the first project, we taught mothers of boys with FXS (ages 27 to 43 months) to engage in child-focused interactions while providing children with “language rich” verbal input that followed into the child’s focus of attention and responded to child communication acts with developmentally advanced language input. We also taught mothers to set up play-based and caregiving interactions during which children would be motivated to produce communication acts to which mothers could then respond with more language facilitating verbal input. The intervention lasted 16 weeks and included a combination of onsite and distance-based sessions. Four monthly didactic parent education sessions were presented on site at the MIND Institute. The intervention also included weekly coaching sessions in which a clinician provided guidance in real time as the mother interacted with her son. Most of the coaching sessions were delivered weekly into the family home using distance video-teleconferencing (i.e., SKYPE).

Results showed that mothers successfully learned to talk about the child’s focus of attention and to prompt child communication acts. They were able to use these strategies equally effectively both in the clinic and at home. Learning these strategies helped mothers to enrich their interactions with their children to create language learning opportunities. Children showed increases in their use of prompted communication acts. Mothers reported they were highly satisfied with the intervention and we learned a great deal about how to deliver a language intervention using distance teleconferencing technology. If you want more details, please see:

McDuffie, A., Oakes, A., Machalicek, W., Ma, M., Bullard, L., Nelson, S., & Abbeduto, L. (2016). Early language intervention using distance video-teleconferencing: a pilot study of young boys with Fragile X syndrome and their mothers. American Journal of Speech-Language Pathology, 25(1), 46-66.

In the second project, which targeted boys, ages ten to 12, with FXS, we wanted to provide a structured context for practicing sustained and on-topic conversational interactions. We embedded the intervention into the context of shared, or interactive, story-telling using a selection of illustrated children’s books from which all text had been removed. This context also took advantage of the relative skills with storytelling of males with FXS.

The story depicted in each book served as the shared topic for the mother-child conversation and the illustrations in the book provided visual cues to support the spoken interaction. We delivered all intervention sessions into each family’s home by means of a laptop computer and distance video-teleconferencing software. In addition to the laptop computer, each family was provided with a tablet computer which contained a library of digitized story books and a Bluetooth ear piece to use during coaching sessions. A different story was used during each week of intervention activities. Each mother also received a script for each book to provide examples of things to say about the story and suggestions for vocabulary words to use.

The intervention lasted for 12 weeks. Each week the parent completed a coaching session during which the clinician provided real-time feedback while the mother interacted with her son around the wordless book; a homework session during which the mother video-recorded a book sharing interaction with her child and sent it digitally to the clinician; and a feedback session during which the clinician reviewed the homework session and set goals for the next week.

Results indicated mothers were able to learn to use the targeted language support strategies. Participation in the intervention increased the number of utterances produced by both mothers and their children that were related to the topic of each story, which meant they were having longer conversations.

In fact, the storytelling interactions changed from an average of four minutes during baseline to over 14 minutes by the end of the intervention. All three boys also increased the number of unique vocabulary words they used and two of the three boys increased the length of the utterances they produced. Mothers reported a high degree of satisfaction with their participation in the intervention and were particularly pleased to be able to participate in a sustained interaction with their children on a regular basis.

We have just completed an extension of this pilot study in which we enrolled twenty boys with FXS between the ages of ten and 17 years. This larger study uses a randomized group design and will provide a more rigorous test of the effectiveness of the intervention approach. If you want to read more, see:

McDuffie, A., Machalicek, W., Bullard, L., Nelson, S., Mello, M., Tempero-Feigles, R., & Abbeduto, L. (2016). A spoken-language intervention for school-aged boys with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 121(3), 236-265.

There are many other findings from our lab that we have not reviewed here but that are helping to guide our approach to treatment, including studies of females with FXS. Among the things we are learning is that the anxiety, impulsivity, attention and memory problems so common in FXS are often a barrier to language learning. We are particularly interested in combining our parent-implemented language intervention with drugs that could reduce anxiety and impulsivity and improve attention and memory. In fact, we are in the early stages of several projects that are taking this multimodal treatment approach. So, stay tuned!

The research described in this article was made possible through the following NIH grants awarded to Leonard Abbeduto:  R01 HD024356, R01 HD074346, U54 HD079125, and R01 HD054764. Leonard Abbeduto also received a grant from the National Fragile X Foundation to support our language intervention research. We sincerely appreciate the contributions of all of the families who have participated in our research.