The effects of explicit instruction in academic vocabulary during shared book reading on the receptive vocabulary of children with complex communication needs.

The purpose of this study was to evaluate the effect of explicit vocabulary instruction during shared reading experiences on the acquisition of receptive academic vocabulary for children with complex communication needs. A single-subject, multiple-probe design was used. Three preschool-aged children (i.e., one with autism spectrum disorder, one with developmental delay, and one with a rare genetic disorder) were each taught two sets of vocabulary words. Intervention consisted of explicit vocabulary instruction associated with shared reading of academic texts. All three children acquired 10 targeted academic vocabulary items receptively and maintained vocabulary knowledge for at least 4 weeks. Data also suggest probable generalization to new representations. Additionally, participants became more adept at learning via this method, acquiring the second vocabulary set in significantly less time. Results indicate that explicit vocabulary instruction during shared reading experiences can be effective for teaching receptive vocabulary to children with complex communication needs.

[Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients]. / A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán.

The chromosome 22q11 deletion syndrome may present with a variety of phenotypes. Its symptoms generally include a characteristic facial dysmorphisms and multiplex developmental disorders. Fluorescence in situ hybridization is the current method of choice for the diagnosis if typical multiple defects and/or symptoms are present. The authors present the history of two patients who were followed-up for minor anomalies and various developmental disorders for several years in the genetic counseling office of the authors, but definitive diagnosis was not established. However, when DNA samples of the two patients were recently tested with array comparative genome hybridization, a diagnostic method which has already been used in their institute for several years, the results indicated deletion of the 11.2 region on the long arm of chromosome 22 in both patients. The authors draw attention to the incidence and wide phenotypic spectrum of the chromosome 22q11 deletion syndrome, and show that its identification can be aided with the novel molecular cytogenetic method available in their laboratory.