October 1, 2013 Departments

From the Journals: October 2013

Catch up on the latest findings by researchers in communication sciences and disorders in this roundup of study results.

More Audiologists Performing Cerumen Management

Cerumen management is on the rise among audiologists, according to survey results published in the June 2013 issue of the American Journal of Audiology. But respondents also reported that they were not trained adequately enough in cerumen management, and believe that educational programs need to improve their coverage of the subject.

Cerumen management is within the scope of practice of audiology, and the audiology doctorate is now the entry-level clinical degree. However, there is little recent information about whether and how cerumen management is being taught in AuD programs—or even if and how audiologists are currently practicing cerumen management. This study surveyed audiologists about their training for, experience with, opinions about and practices involving cerumen management.

Researchers designed and e-mailed a questionnaire to 1,575 audiologists with AuD degrees, randomly sampled from the American Academy of Audiology's membership directory. The return rate was 29 percent (447 returned). Overall, 69 percent of audiologists performed cerumen management, compared to only 29 percent reported in earlier studies. More audiologists in private practice (87 percent) performed cerumen management than those in medical settings (65 percent). Almost half (48 percent) of the audiologists who had completed residential AuD programs believed that their training programs inadequately prepared them to perform cerumen management.

In Story Retelling, Children With Autism Show Qualitative Differences

Facial and vocal expressions of people with high-functioning autism were as recognizable as those of their typically developing peers but were qualitatively different, according to a study published in the June 2013 issue of the Journal of Speech, Language, and Hearing Research. These preliminary data show qualitative differences in nonverbal communication that may have a significant, negative impact on the social communication success of children and adolescents with high-functioning autism.

People with high-functioning autism have qualitative differences in facial expression and prosody production, which are rarely systematically quantified. Researchers qualitatively and quantitatively analyzed prosody and facial expression productions in 22 male children and adolescents with high-functioning autism and 18 typically developing controls (17 males, 1 female). The authors used a story-retelling task to elicit emotionally laden narratives, which they analyzed using acoustic measures and perceptual codes. Naive listeners coded all productions for emotion type, degree of expressiveness and awkwardness.

The group with high-functioning autism was not significantly different in accuracy or expressiveness of facial productions, but was more awkward than the typically developing group. Participants with high-functioning autism were significantly more expressive in their vocal productions, with a trend for greater awkwardness. Researchers found that more severe social communication impairment, as captured by the Autism Diagnostic Observation Schedule, was correlated with greater vocal and facial awkwardness.

Mystery of EEC Syndrome's Variable Severity in Children Solved

By identifying a protein that acts as a genetic modifier, researchers have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC. The results, published online June 14 in the American Journal of Medical Genetics, suggest that the presence or absence of a single protein determines whether or not a child with the mutation will develop EEC pathology.

EEC stands for ectodactyly, ectodermal dysplasia, clefting syndrome. It is rare in its full-blown form, although individual aspects of the associated pathology, such as cleft palate, are more common. EEC has a known genetic culprit, a DNA mutation in a gene called p63 that causes a mutation in the p63 protein. Only one parent needs to contribute the defective copy of the gene for a child to develop the illness. When one parent carries the mutant gene, each child has a 50 percent chance of having EEC.

The question is why some children with the mutation have severe birth defects, while others—in some cases, siblings of those affected—with the same mutation are mostly or entirely symptom-free. Genetic experiments revealed that the presence or absence of one variant type of the p63 protein—called TAp63—determines whether or not a child with the p63 mutation will develop EEC pathology. TAp63 normally protects from the birth defects; the experiments showed that in its absence, pathology is certain to occur.

The results suggest that levels of the TAp63 protein determine whether children with one copy of the EEC-causing mutation are born with birth defects, and that when levels of TAp63 drop beneath a certain threshold, it is no longer protective, opening the way to pathology.


  

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