Agents of change: undergraduate students' attitudes following observations of speech-language pathology service delivery: preliminary findings.

Undergraduate communication sciences and disorders students' attitudes toward speech-language pathology (SLP) clinical services to children and adults prior to and following community-based observations were examined. Participants (n=25) completed an online survey to elicit their opinions regarding their perceptions of their observation experiences. Findings revealed that after completion of community-based SLP clinical observations, 16 (64%) respondents reported a continued interest in a child-based clinical focus; 12 (48%) respondents continued to consider a clinical interest in adults, while 5 respondents (20%) changed career interests to an adult focus based on their observation experiences.

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature protein-translation termination and 10 missense mutations.

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

A unique and constant feature of Bloom syndrome (BS) cells is an excessive rate of sister-chromatid exchange (SCE). However, in approximately 20% of persons with typical BS, mosaicism is observed in which a proportion of lymphocytes (usually a small one) exhibits a low-SCE rate. Persons with such mosaicism predominantly are genetic compounds for mutation at BLM, and the low-SCE lymphocytes are the progeny of a precursor cell in which intragenic recombination between the two sites of BLM mutation had generated a normal allele.

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS.

The use of conversational repair strategies by children who are deaf.

The investigation examined conversational repair strategies of deaf and hearing children in response to a partner's indication of communication breakdown. Eight profoundly deaf children who used total communication were compared with eight hearing children; the children were matched by age and sex. Each child was videotaped engaging in two language sample elicitation activities--one structured, one informal.

Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.

The gene for Bloom syndrome (BLM) has been mapped to human chromosome 15 band q26.1 by homozygosity mapping. Further refinement of the location of BLM has relied upon linkage-disequilibrium mapping and somatic intragenic recombination.

The Bloom's syndrome gene product is homologous to RecQ helicases.

The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by direct selection of a cDNA derived from a 250 kb segment of the genome to which BLM had been assigned by somatic crossover point mapping. In this novel mapping method, cells were used from persons with BS that had undergone intragenic recombination within BLM.