The adult galactosemic phenotype.

BACKGROUND: Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression. METHODS: Thirty-three adults (mean age = 32.6 ± 11.7 years; range = 18-59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures. RESULTS: The sample included 17 men and 16 women. Subjects exhibited cataracts (21%), low bone density (24%), tremor (46%), ataxia (15%), dysarthria (24%), and apraxia of speech (9%). Subjects reported depression (39%) and anxiety (67%). Mean full scale IQ was 88 ± 20, (range = 55-122). All subjects followed a dairy-free diet and 75-80% reported low intake of calcium and vitamin D. Mean height, weight and body mass were within established norms. All female subjects had been diagnosed with POI. One woman and two men had had children. Logistic regression analyses revealed no associations between age, genotype or gender with IQ, tremor, ataxia, dysarthria, apraxia of speech or anxiety. Each 10- year increment of age was associated with a twofold increase in odds of depression. CONCLUSIONS: Taken together, these data do not support the hypothesis that galactosemia is a progressive neurodegenerative disease. However, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.

Patient-centered Communication survey of nursing homes and rehabilitation centers.

A surge of research has recently been published on the importance ofpatient-centered communication (P-CC). However, patients with communication disorders are rarely considered in these discussions. Health care workers in long-term care facilities (L-TCFs) and rehabilitation centers were surveyed in order to: (1) assess the level of P-CC used with people with communication disorders versus those without communication disorders; (2) identify the tools and strategies currently used by health care providers in long-term care facilities and rehabilitation centers to enhance P-CC with people with communication disorders; (3) assess the perceived level of efectiveness of these tools and strategies; and (4) identify the tools desired by health care providers in these settings. The results regarding P-CC levels were fairly consistent across settings. Health care providers reported that they achieve slightly higher P-CC with patients without communication disorders than with those with communication disorders. Respondents in both settings used similar tools and strategies, but the reported level of effectiveness varied greatly between the two settings, with rehabilitation centers indicating better success than L-TCFs. Interestingly, rehabilitation center respondents were more interested in obtaining additional tools than were L-TCF respondents, but the types of tools desired were similar.

Reporting of Socioeconomic Status in Pediatric Language Research.

PURPOSE: This study examined language-focused research articles published in 3 American Speech-Language-Hearing Association journals to: (a) determine the proportion that reported the socioeconomic status (SES) of pediatric participants and (b) identify the indicators used to represent SES in these articles. METHOD: Researchers reviewed articles published from 2000-2015 in Language, Speech, and Hearing Services in Schools, the American Journal of Speech-Language Pathology, and the Journal of Speech, Language, and Hearing Research (language section) that involved pediatric participants and focused on language development, as well as on assessment and intervention for language disorders. RESULTS: For the 3 journals combined, 417 out of the total 652 (64%) pediatric language articles reported SES of the participants. Over the 16-year period there was an increase in SES reporting of 31.8% (55.6% to 73.3%). The types of SES indicators used represented education, income, and occupation. CONCLUSION: Although SES reporting for pediatric participants in language-based studies increased over the 16-year period examined, over 1 quarter of studies published in the 3 journals combined still do not report SES. This is a concern. When determining the generalizability of research findings to specific children, it is important for speech-language pathologists to be able to identify the SES background of research participants.

Innovative activities for teaching anatomy of speech production.

Courses in anatomy have traditionally relied on lectures and cadaver dissection laboratories. In speech and hearing sciences, there tends to be less access to cadavers than in medical schools and other allied health professions. It is more typical to use anatomical models, diagrams and lecture slides. Regardless of the resources available, anatomy is a subject that lends itself to hands-on learning. This article briefly reviews teaching methods and describes a variety of innovative activities to enhance learning of anatomical concepts and clinical relevance of anatomy for speech production. Teaching strategies and activities were developed to capitalize on students' multimodal learning preferences as revealed by responses to a survey administered to 49 undergraduates in the beginning of an anatomy of speech production course. At the end of the semester, students completed a second survey. A five-point Likert scale was used to assess the usefulness of each activity as a learning tool or level of clinical relevance and the level of enjoyability. The responses were overwhelmingly positive with level of usefulness and level of clinical relevance rated higher on average than the level of enjoyment.