Full-Time O.T. to Develop Muscular Dystrophy Research

Abstract Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease resulting in severe respiratory derangements. As such, DMD patients are at a high risk of nocturnal hypoventilation, thereby requiring nocturnal ventilation (NV). To this end, NV is an important clinical milestone in the management of DMD. Emerging evidence suggests that ß2 adrenergic receptors (ADRB2) may play a role in determining respiratory function, whereby more functional ADRB2 genotype variants (e.g., Gly16) are associated with improved pulmonary function and respiratory muscle strength. These findings suggest that the more functional ADRB2 genotype may help to preserve respiratory function in patients with DMD. The purpose of this study was to identify the influence of ADRB2 genotype on the risk of NV use in DMD. Data from the CINRG Duchenne Natural History Study including 175 DMD patients (3–25 yrs) were analyzed focusing on ADRB2 genotype variants. Time-to-event analyses were used to examine differences in the age at prescription of full-time NV use between genotypes. There were no differences between genotype groups in age, height, weight, corticosteroid use, proportion of ambulatory patients, or age at loss of ambulation. DMD patients expressing the Gly16 polymorphism had a significantly (P < 0.05) lower mean age at NV prescription compared with those patients expressing the Arg16 polymorphism (21.80 ± 0.59 yrs. vs 25.91 ± 1.31 yrs., respectively). In addition, a covariate-adjusted Cox model revealed that the Gly16 variant group possessed a 6.52-fold higher risk of full-time NV use at any given age compared with the Arg16 polymorphism group. These data suggest that genetic variations in the ADRB2 gene may influence the age at which DMD patients are first prescribed NV, whereby patients with the Gly16 polymorphism are more likely to require NV assistance at an earlier age than their Arg16 counterparts.

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Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100098976 ◽

1981 ◽

Vol 39 ◽

pp. 498-499

Author(s):

S. E. Miller ◽

G. B. Hartwig ◽

R. A. Nielsen ◽

A. P. Frost ◽

A. D. Roses

Keyword(s):

Electron Microscopy ◽

Muscular Dystrophy ◽

Genetic Diseases ◽

Skin Fibroblasts ◽

Inborn Errors ◽

Cytoplasmic Inclusions ◽

Cultured Skin ◽

Myotonic Muscular Dystrophy ◽

Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

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Regenerating myofibers in tibialis anterior muscles of young ‘MDX’ mice

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100127943 ◽

1987 ◽

Vol 45 ◽

pp. 726-727

Author(s):

H. D. Geissinge ◽

L.D. Rhodes

Keyword(s):

Muscular Dystrophy ◽

Mouse Model ◽

Tibialis Anterior ◽

Physiological Activity ◽

Mdx Mice ◽

Mode Of Inheritance

A recently discovered mouse model (‘mdx’) for muscular dystrophy in man may be of considerable interest, since the disease in ‘mdx’ mice is inherited by the same mode of inheritance (X-linked) as the human Duchenne (DMD) muscular dystrophy. Unlike DMD, which results in a situation in which the continual muscle destruction cannot keep up with abortive regenerative attempts of the musculature, and the sufferers of the disease die early, the disease in ‘mdx’ mice appears to be transient, and the mice do not die as a result of it. In fact, it has been reported that the severely damaged Tibialis anterior (TA) muscles of ‘mdx’ mice seem to display exceptionally good regenerative powers at 4-6 weeks, so much so, that these muscles are able to regenerate spontaneously up to their previous levels of physiological activity.

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The effect of exercise in muscular dystrophy

JAMA ◽

10.1001/jama.197.11.843 ◽

1966 ◽

Vol 197 (11) ◽

pp. 843-848 ◽

Cited By ~ 19

Author(s):

P. J. Vignos

Keyword(s):

Muscular Dystrophy

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Age at Full-Time Use Predicts Language Outcomes Better Than Age of Surgery in Children Who Use Cochlear Implants

American Journal of Audiology ◽

10.1044/2019_aja-19-0073 ◽

2019 ◽

Vol 28 (4) ◽

pp. 986-992 ◽

Cited By ~ 2

Author(s):

Lisa R. Park ◽

Erika B. Gagnon ◽

Erin Thompson ◽

Kevin D. Brown

Keyword(s):

Cochlear Implants ◽

Time Use ◽

Expressive Language ◽

Normal Hearing ◽

Full Time ◽

Language Outcomes ◽

Age At Surgery ◽

Device Placement ◽

Device Use ◽

Better Than

Purpose The aims of this study were to (a) determine a metric for describing full-time use (FTU), (b) establish whether age at FTU in children with cochlear implants (CIs) predicts language at 3 years of age better than age at surgery, and (c) describe the extent of FTU and length of time it took to establish FTU in this population. Method This retrospective analysis examined receptive and expressive language outcomes at 3 years of age for 40 children with CIs. Multiple linear regression analyses were run with age at surgery and age at FTU as predictor variables. FTU definitions included 8 hr of device use and 80% of average waking hours for a typically developing child. Descriptive statistics were used to describe the establishment and degree of FTU. Results Although 8 hr of daily wear is typically considered FTU in the literature, the 80% hearing hours percentage metric accounts for more variability in outcomes. For both receptive and expressive language, age at FTU was found to be a better predictor of outcomes than age at surgery. It took an average of 17 months for children in this cohort to establish FTU, and only 52.5% reached this milestone by the time they were 3 years old. Conclusions Children with normal hearing can access spoken language whenever they are awake, and the amount of time young children are awake increases with age. A metric that incorporates the percentage of time that children with CIs have access to sound as compared to their same-aged peers with normal hearing accounts for more variability in outcomes than using an arbitrary number of hours. Although early FTU is not possible without surgery occurring at a young age, device placement does not guarantee use and does not predict language outcomes as well as age at FTU.

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Exploring Barriers to Doctoral Education in Communication Sciences and Disorders: Insights From Practicing Professionals

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2020_persp-20-00019 ◽

2020 ◽

Vol 5 (6) ◽

pp. 1552-1563

Author(s):

Denise A. Tucker ◽

Mary V. Compton ◽

Sarah J. Allen ◽

Robert Mayo ◽

Celia Hooper ◽

...

Keyword(s):

Doctoral Students ◽

Online Survey ◽

Academic Research ◽

Doctoral Degree ◽

Full Time ◽

Doctoral Study ◽

Doctoral Research ◽

Part Time ◽

Advance Research ◽

Doctor Of Philosophy

Purpose The intended purpose of this research note is to share the findings of a needs assessment online survey of speech and hearing professionals practicing in North Carolina to explore their interest in pursuing a research-focused PhD in Communication Sciences and Disorders (CSD) and to document their perceptions of barriers to pursing a PhD in CSD. In view of the well-documented shortage of doctor of philosophy (PhD) faculty to attract, retain, and mentor doctoral students to advance research and to prepare future speech and hearing professionals, CSD faculty must assess the needs, perceptions, and barriers prospective students encounter when considering pursuing a doctoral research degree in CSD. Method The article describes the results of a survey of 242 speech and hearing professionals to investigate their interest in obtaining an academic research-focused PhD in CSD and to solicit their perceived barriers to pursuing a research doctoral degree in CSD. Results Two thirds of the respondents (63.6%) reported that they had considered pursuing a PhD in CSD. Desire for knowledge, desire to teach, and work advancement were the top reasons given for pursuing a PhD in CSD. Eighty-two percent of respondents had no interest in traditional full-time study. Forty-two percent of respondents indicated that they would be interested in part-time and distance doctoral study. The barriers of time, distance, and money emerged as those most frequently identified barriers by respondents. Conclusion The implications inform higher education faculty on how they can best address the needs of an untapped pool of prospective doctoral students in CSD.

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Monitoring Progress for Children with Hearing Loss

Perspectives on Hearing and Hearing Disorders in Childhood ◽

10.1044/hhdc24.2.74 ◽

2014 ◽

Vol 24 (2) ◽

pp. 74-81

Author(s):

Monica Weston ◽

Karen F. Muñoz ◽

Kristina Blaiser

Keyword(s):

Hearing Loss ◽

Hearing Aid ◽

Full Time ◽

Data Logging ◽

Standardized Measures ◽

Word Structure ◽

Hearing Aid Use ◽

Outcomes For Children ◽

Language Measures ◽

Children With Hearing Loss

Purpose This study investigated average hours of daily hearing aid use and speech-language outcomes for children age 3 to 6 years of age with hearing loss. Method Objective measures of hearing aid use were collected via data logging. Speech and language measures included standardized measures GFTA-2, CELF Preschool-2 and additional item analyses for the word structure subtest CELF Preschool-2 and the GFTA-2. Results Hearing aid use was full time for 33% of the children (n=3; M=8.84 hours; Range: 2.9–12.1) at the beginning of the study, and for 78% at the end of the study (n=7; M=9.89 hours; Range 2.6–13.2). All participants demonstrated an improvement in articulation and language standard scores and percentiles however continued to demonstrate areas of weakness in sounds high-frequency in nature. Conclusions Through early identification and fitting, children gain access to speech sounds. Both standardized measures and individual language analysis should be used to identify and support children with hearing loss in language and subsequent literacy development.

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