Fragile X Syndrome

Fragile X syndrome (FXS) is looked at in a new way in the article,” Early Communication, Symbolic Behavior, and Social Profiles of Young Males with Fragile X Syndrome” by Joanne E. Roberts, et al. This syndrome, which is the leading cause of mental retardation in males, is the result of overactive Cytosine-Guanine-Guanine nucleic acid production on a specific gene on the X chromosome. There are different stages of the syndrome that range in severity from simply being a carrier to having the side effects of mental retardation and impaired brain functions. FXS becomes more severe as generation passes it on to one another making the collection of data on difficult because it is constantly changing between cases. The deficits that occur with the mental retardation are more moderate in children and more sever in adolescents and adults. These deficits include those concerning social interaction and pragmatics, semantic and syntactic delays and phonological deficits.

The research among these deficit areas is difficult to decipher because the data across age groups tends to differ within categories. For instance, adolescent and adult males may have intelligible single word speech and poor conversational speech, but still have preservation within single words. Another piece of data that also illustrates this inconsistency amongst data is that adult males with FXS tend to have a smaller range of grammatical construction whereas children who do not have FXS and are normally developing and perform at the same mental age as the FXS adults do not have these sorts of problems. This causes confusion amongst researchers because it is difficult to pinpoint where this error originates – is it semantic or syntactic. Also adding to the confusion is that few studies have been performed on children younger than 8 with FXS.

The lack of data on younger children and toddlers with FXS is what prompted Joanne E. Roberts and her colleagues to look at the communication of children with FXS younger than 2 years old in order to gain a look into their communication profiles to try and pinpoint some idea of what exactly was occurring in their speech development. The goal of the study was to identify similarities and differences in development across modalities to attempt to gain some insight as to how these children should be treated and what types of intervention would be most appropriate. They hoped to identify early signs in development that would lead to answers for deficits that seem to become more prominent with age, such as social and phonological skills. They also hoped to piece together the puzzle of FXS to see whether earlier communication profiles would predict future problems for the child’s development.

They conducted a longitudinal study of preschool- and early elementary-aged males in the early stages of their communication development across communication domains (Roberts, et al 2002 p296). These domains included: communication functions, modes of communication, reciprocity, social affective signaling, and symbolic behaviors and then looked at the skills a year later for comparison (296). There were 22 children in the study ranging from 21 to 77 months, with a mean age of 49.2 months, 19 of them were African American and 19 white, from professional clinics in Georgia, North and South Carolina and Virginia (296). The criteria for selection was that they had a full mutation of FXS, had scores developmentally in the age range of the tests, and did not have features consistent with a diagnosis of autism.

Children were not included if diagnosed with autism do to the high percentage of children who are both autistic and have FXS because they wanted to create a communication profile specifically for FXS (296). The tests used during the study to test communication skills were the Reynell Developmental Language Scales (Reynell) and the Communication and Symbolic Behavior Scales (CSBS). The Reynell is used to test comprehension and expressive language skills for children developmentally between the ages of 1 and 7 and the CSBS is used to test the communication, social, and symbolic abilities of children developmentally between the ages of 8 months and 24 months old. The scores were then scaled to determine if there was a correlation between using the CSBS as a predictor and the children’s abilities a year later. The children’s ages were partialed out due to the fact that their chronological ages were different than those of the developmental stage based tests.

Results showed that children scored highest in verbal communication and lower in gestural communication, reciprocity, and symbolic behavior with the majority (70%) of the children scoring more than on-half of a standard deviation higher in verbal communication than gestural communication, reciprocity, or symbolic behavior and some with even one standard deviation or more (298). Within the cluster areas, children’s strengths and weaknesses were seen in verbal and vocal scores differing consonants and word combinations, syllables containing consonants and gestures with vocalizations (298). However, on all the measurements, there was variation between subjects. There was also a positive correlation between the child’s chronological age and several of the tested domains in the CSBS. Children who had high verbal comprehension scores had higher communication functions, vocalizations, and reciprocity scores while children who scored higher in expressive language scored higher in all areas except social affect signaling (300). Children who had higher CSBS scores on communicative functions, vocalizing, verbalizations and reciprocity had higher scores on the Reynell a year later and children who had more vocalizations on the CSBS scored higher in the expressive language area on the Reynell a year later (300).

This study showed that there was no way to nail down a solid profile of strengths and weaknesses across all the children because there were significant differences between their scores, as well as large differences within individual scores. This study is not at all comprehensive and does not answer the entire question surround FXS and its possible intervention strategies, or helping in predicting later deficit areas. However, it is a terrific stepping stone for this area of research. They have done what not many other researchers in the area have done and studied children younger than 8 years of age and gathered a significant amount of very useful data.

Although not comprehensive, it is a better start than what there was and gives the filed more data to look at and reflect on. Since the younger males in this study did not fit the ideas of previous studies, and actually scored better in some areas than would have been predicted, it opens up new doors for questioning what the developmental patterns are for children and adults with FXS. This disorder affects not only a child’s first capturing of his language, but also changes his knowledge of communication over time, as is shown by the differences in production and behaviors across age groups. This study causes researchers to examine if whether the social deficits these children face are because they have better verbal skills and focus rather on those than trying to gesture in accordance with their speaking. It also raises a question of is the developing child with FXS is developmentally deficient or developmentally different. Because there is such a variation amongst scores, it seems that the development may just be atypical and that later affects of FXS come into play to change the language of adults with FXS. More research needs to be completed in this area and I anxiously await finding out more as this is the first time I had been introduced to FXS.

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