The fragile X mutation and fragile X syndrome are associated with hyperarousal, hyperactivity, aggression, and anxiety. These may be related to strong reactions to auditory, tactile, visual, and olfactory stimuli [Hagerman, 1996b; Hagerman and Cronister, 1996]. However, almost no data exist describing hyperarousal and sensory sensitivity in individuals with the fragile X mutation. This study establishes a reliable laboratory paradigm for examining reactions to sensory stimuli. We found the pattern of electrodermal responses (EDRs) to stimulation in one sensory modality predicted the pattern of EDRs in four other sensory systems. In addition, the EDR pattern of individuals with the fragile X mutation was related to their FMR-protein expression. Finally, EDRs in individuals with fragile X syndrome were significantly different from those of normal controls, demonstrating greater magnitude, more responses per stimulation, responses on a greater proportion of trials, and lower rates of habituation. The findings support the theory that individuals with fragile X syndrome have a physiologically based enhancement of reactions to sensations. Because electrodermal activity indexes sympathetic nervous system activity, the data suggest that the over-arousal to sensation may involve the sympathetic system.

The basic components of genetic counseling are informational and educational. The patient's cognitive and emotional presentation and the needs and concerns of the patient are seldom addressed. Females who carry the FMR1 pre and full gene mutation may present with learning, cognitive, and/or emotional difficulties and family members of those diagnosed with fragile X syndrome have ongoing needs and concerns. As a result, genetic counseling for fragile X syndrome offers a unique opportunity within which to expand the role of the genetic counselor. Q‐methodology, by using the q‐sort, is centered on the family to reproduce the needs and concerns that are consistent with the patient's own experience. Used for sociological research, the q‐methodology with specially constructed q‐sort items is easily adapted to the genetic counseling setting © 1995 Flynn & Gane and can be used for directly assessing the patient's needs and concerns. For our pilot study, 16 items were physically sorted and ranked interdependently by the patient (subject). Thirty‐seven patients (29 females and 8 males) participated in our pilot study. Preliminary results show that the age of the proband, length of time of the diagnosis, and parental sex at the time the q‐sort is administered impacts the ranking of items thus differentiating needs and concerns. Results have shown that specific items are missing from the lives of subjects. From the information obtained from the q‐sort, the genetic counselor can identify needs and concerns of the patient and combine this information with the clinical presentation to work with the patient in a more effective manner. © 1996 Wiley‐Liss, Inc.