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Caused by an inherited genetic mutation that predominantly affects boys, fragile X syndrome is characterized by language delay as well as other developmental issues, including intellectual disabilities and behavior problems such as trouble paying attention, aggression, anxiety and features of autism. The constellation of problems often makes it hard for a child to express basic needs, engage in conversation or sit still for classroom learning.

To address the deficit of interventions for older children and adolescents like Sean, MIND Institute researcher Andrea McDuffie and colleagues created an intervention that uses a shared storytelling paradigm and real-time parent coaching, all provided in the home through telecommunications. The small but important study found that the intervention improved adolescent boys鈥� abilities to produce longer sentences, use more diverse vocabulary and concentrate for longer time periods during conversational interactions.

McDuffie鈥檚 findings appear today in the American Journal on Intellectual and Developmental Disabilities.

鈥淥ur goal was to train mothers to interact with their sons in ways that provide more opportunities to use language,鈥� said McDuffie, a senior speech pathologist and the study鈥檚 lead author. 鈥淥nce we can get children to engage in conversation, all sorts of learning can take place.鈥�

The published study, 鈥淎 spoken-language intervention for school-aged boys with fragile X syndrome,鈥� involved three 10 and 11 year-old boys with fragile X syndrome, including Sean, along with their mothers. All three boys had basic language skills prior to beginning the intervention with the ability to speak in three- to six-word sentences. The families were given wordless picture books uploaded onto a tablet , and mothers were coached via blue-tooth headset on strategies to promote more extended and complex conversations while sharing the book with their child.

For example, mothers were taught to immediately recast their child鈥檚 spoken utterances into more grammatically correct or slightly more complex sentences, with the goal of helping the child to detect the differences and enrich his own speech. To elicit more conversation, the mothers asked their child open-ended 鈥渨hy,鈥� 鈥渉ow鈥� and 鈥渨hat happens next鈥� questions about the story as they looked at the pictures. Another strategy was to have the mom provide the beginning of a sentence about the story for the child to complete, prompted with a word or phrase.

According to McDuffie, this shared storytelling approach is designed to promote the back-and-forth conversational interactions between a parent and child that naturally contribute to typical language development.

In the week following each coaching session, families practiced on their own with the same book, and videotaped the interaction using a video chat system. The study team then analyzed the video-recording and provided the mothers with more feedback about her use of the intervention. In this way, the research team could quantify features of the child鈥檚 speech, such as new words used and number and length of utterances produced, as well as time spent at the task. The intervention lasted 12 weeks, with the families focusing on a new book each week.

The study found that for each child, total utterances increased dramatically from baseline to the end of the study, from nearly doubling to more than tripling. The number of new words used also increased, as well as grammatical complexity for two of the boys. The amount of time each child spent on the sessions also doubled and tripled, from five to eight minutes at baseline to 14 to 20 minutes at the end of the study.

Leonard Abbeduto, principal investigator of the study and MIND Institute director, said the findings demonstrate the potential of providing effective interventions to families who may not otherwise have access to professional support services.

鈥淭he entire intervention was performed remotely, enabling families to obtain help from their homes,鈥� said Abbeduto. 鈥淭his is so important to families with a child with an uncommon condition or who live far from an institution that provides the specialty services they need.鈥�

Abbeduto added that another advantage of the shared storytelling intervention is that it is not focused on a professional helping a child, but on a professional helping a parent to interact more effectively with a child.

鈥淭his intervention empowers parents to be agents of change,鈥� he said. 鈥淲e expect benefits to continue long after we stop providing the services.鈥�

Sean鈥檚 mom, Christine Sawicki, said that she and Sean enjoyed participating in the study, and that the program was easy and fun. She especially appreciated receiving quantitative feedback about how her child was progressing.

鈥淎s a parent of a child with disabilities, you often feel helpless,鈥� she said. 鈥淭his study gave me concrete ways to really help Sean with his progress.鈥�

Sawicki reported that Sean鈥檚 teacher and family members said he was better able to stay focused as a result of the study and could provide more detailed information in conversations.

Abbeduto and McDuffie are planning to extend the intervention into a larger scale clinical trial, one that will also provide medications aimed at ameliorating some of the behavioral symptoms of fragile X.

鈥淚f a child cannot sit still and focus, it鈥檚 hard for him to engage in conversation,鈥� said McDuffie. 鈥淲e are hoping to see greater effects by combining a behavioral and a pharmaceutical strategy.鈥�

The fragile X mutation causes the loss of production of a protein important for the normal development and function of the nervous system. Because the mutation is on the X chromosome, boys who inherit it are generally more affected than girls, who usually have a normal second X chromosome so are able to produce at least some of the critical protein.

McDuffie added that the program also could benefit children and adolescents with other developmental disabilities, such as Down syndrome.

Other study authors are Lauren Bullard, Sarah Nelson, Melissa Mello, Robyn Tempero-Feigles and Nancy Castignetti, all from the UC Davis MIND Institute, and Wendy Machalicek from the University of Oregon.

Research for this study was supported by the MIND Institute Intellectual and Developmental Disabilities Research Center, funded by the Eunice Kennedy Shriver National Institute for Child Health and Human Development (U54 HD 079125).