Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results.

Elimination of cosmetic deformity of lower lip pits and lower lip protrusion is the most common indication for lower lip repair in Van der Woude syndrome. 34 patients with lower lip pits that were operated on between 1982 and 2006 were reviewed. Surgical correction was performed with one of three different techniques: simple excision, vertical wedge resection, or inverted-T lip reduction. The aesthetic results were evaluated by two groups of raters. One group consisted of 10 medical professionals, and the other 10 lay people. A rating scheme was utilized, with a score of 3 for good, 2 for fair, and 1 for poor results. The final results were compared based on the mean score for each patient and inter-rater reliability was assessed using a weighted kappa coefficient. There was a fair agreement on the ratings between raters within groups. Inverted-T lip reduction received the best aesthetic result score from both groups of evaluators, with a mean score of 2.38±0.30 in the professional group, and 2.43±0.29 in the lay group. The results conclude that inverted-T lip reduction is a simple, safe and effective technique that achieves a better aesthetic result in lower lip repair of Van der Woude syndrome.

Sensory-modulation disruption, electrodermal responses, and functional behaviors.

It was hypothesized that children clinically identified with sensory-modulation disruptions (SMD) would have atypical physiological responses to sensation, and that such responses would predict parent-reported behavioral responses to sensation. Nineteen children with clinically identified disruptions, aged 3 to 9 years, mean 6.0 years, and 19 age- and sex-matched healthy (control) children, aged 3 to 9 years, mean 6.6 years, were examined. The subjects were presented with five stimuli. Ten trials were conducted for each stimulus and the electrodermal activity of the child was recorded. Four children with SMD did not show electrodermal responses (EDR) to stimulation; all control children responded. Excluding non-responders, children with SMD showed more and larger EDR than control children. Participants with disruptions habituated more slowly to repeated stimulation, as measured by the number of responses to stimuli and proportion of stimuli that evoked responses. Children with atypical EDR had more parent-reported abnormal behavioral responses to sensation. Children with clinically identified SMD respond physiologically differently to sensory stimuli than typically developing children; these differences have ramifications for functional behavior.

Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report.

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.

Fragile X syndrome in a normal IQ male with learning and emotional problems.

The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been diagnosed with a schizotypal personality disorder. He shows significant deficits in the social and emotional aspects of daily life, but has striking cognitive strengths relating to reading and vocabulary as compared to most males affected with fragile X syndrome. DNA testing of blood leukocytes revealed that he has a fully expanded FMR1 CGG repeat mutation associated with almost complete lack of methylation. Protein studies demonstrate a limited production of FMRP, the protein produced by the FMR1 gene. It is believed that the near absence of methylation of the fully expanded mutation and the resultant expression of the FMR1 protein is responsible for the strong cognitive abilities of this fragile X patient.