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Background: Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability., Methods: This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV)., Results: Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS., Conclusions: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential.

A Phase II, 4-week randomized, double-blind, placebo-controlled clinical trial was conducted to evaluate the safety and efficacy of the Ampakine compound CX516 as a potential treatment for the underlying disorder in fragile X syndrome (FXS). After baseline screening, subjects with FXS (n = 49) underwent a 1-week placebo lead-in and then were randomized to study drug or placebo for a 4-week period. Cognitive and behavioral outcome measures were administered prior to treatment, at the end of treatment, and 2 weeks posttreatment. There were minimal side effects, no significant changes in safety parameters, and no serious adverse events. There was a 12.5% frequency of allergic rash in the CX516 group and 1 subject developed a substantial rash. There was also no significant improvement in memory, the primary outcome measure, or in secondary measures of language, attention/executive function, behavior, and overall functioning in CX516-treated subjects compared to placebo. This study did demonstrate that many outcome measures were reproducible in this test-retest setting for the FXS population, yet some were too difficult or variable. Adult subjects with FXS were able to complete an intensive clinical trial, and some valid outcome measures were identified for future FXS trial design. Problems with potency of CX516 in other studies have suggested dosing may have been inadequate for therapeutic effect and thus it remains unclear whether modulation of AMPA-mediated neurotransmission is a viable therapeutic strategy for the treatment of FXS.

We have described two children with multiple cutaneous granular cell tumors (GCT) and have reviewed the literature. Multiple tumors of the skin are relatively rare, especially in children, with only 18 pediatric cases previously reported. Surgical excision of rapidly growing or symptomatic lesions is the treatment of choice. In these two children with multiple GCT, three lesions were excised. Specific stains for enolase and S-100 protein clearly demarcated tumor margins after surgical excision. Despite intensive investigation, the histogenesis of this tumor is still in dispute. The most tenable theory at this time is that these tumors are derived either directly from Schwann cells or from undifferentiated cells developing neural characteristics.

This developmental study investigated vowel duration as a cue to postvocalic consonant voicing. Ten trials of six test words, spoken by 10,3-year-olds, 10 6-year-olds, and 10 adults, all with normal language and articulation and hearing, were analyzed. A significant interaction between the speaker's age and the voicing feature of the postvocalic consonant was found on measures of total vowel duration. The duration of vowels preceding voiceless stops was similar across ages, but vowel duration preceding voiced stops decreased sharply with age. In addition, decreased variability of vowel duration was observed with increasing age. Consideration is given to processes of exaggerated vowel lengthening and vowel shortening to describe children's acquisition of this voicing cue. The same subjects and stimulus words used in the production experiment were used in a previous perception experiment. Qualitative comparisons between the production and perception data revealed parallel refinement in the use of vowel duration as a function of age.

Vowel duration is a powerful acoustic cue for adults' perception of postvocalic consonant voicing, but it has not been studied sufficiently in children. The purpose of the present work was to study the development of the use of this duration cue in 3-year-olds, 6-year-olds, and adults. The duration of the vowel was varied to construct three stimulus continua (BIP-BIB, POT-POD, BACK-BAG). The subjects, who had normal language, articulation skills, and hearing sensitivity, identified all stimuli from each of the three continua ten times. Significant developmental differences in the perceptual judgments of voicing were demonstrated. These differences were reflected in both the locus of the category boundary and the slope of the identification function.