Consensus Statement on Standard of Care for Congenital Myopathies
Journal of Child Neurology
Wang, C. H., Dowling, J. J., et al. (2012).
Journal of Child Neurology, 27(3), 363-382.
This is a consensus guideline providing recommendations on the standard of care for individuals with congenital myopathies.
International Committee on Standard of Care for Congenital Myopathies
<div>A multidisciplinary team approach is required for the appropriate evaluation and treatment of feeding and swallowing issues in children with congenital myopathy. The team should include a pediatrician or neonatologist, a pediatric neurologist, a nutritionist or dietician, and a therapist with pediatric feeding expertise such as a speech-language pathologist.</div>
A referral to a speech-language pathologist is necessary when problems with communication arise in individuals with congenital myopathies. Treatment may include strategies to improve intelligibility (e.g., articulation and breath training) and oral stimulation to normalize oral sensory function and prevent oral aversions." In case of hypernasality, a speech prosthesis may be considered. In selected cases, surgical intervention by pharyngoplasty has been documented to have a beneficial effect on speech articulation" (p. 377).
Other professionals may need to be consulted for alternative and augmentative communication. "Alternative and augmentative communication training may include
<ul>
<li>use of signing;</li>
<li>sound amplification; and</li>
<li>other assistive communicative devices" (p. 377).</li>
</ul>
<p>The clinical examination of an individual with congenital myopathy may include oral motor examination and a trial of liquids and food. When the clinical examination identifies potential swallowing problems, a videofluoroscopic swallow study is recommended. However, "absence of a cough during the clinical evaluation should not preclude the videofluoroscopic swallow study, as silent aspiration may be occurring without any overt signs or symptoms.... Nasoendoscopic evaluation of swallow may be helpful when available but is not considered a standard evaluation tool in many institutions" (p. 376).</p>
<p>"It is recommended that a pulmonologist be consulted when feeding difficulties are observed, as acute and chronic aspiration may lead to short- and long-term pulmonary issues" (p. 376).</p>
Management for swallowing impairments for individuals with congenital myopathies may include the following:
<ul>
<li>infant positioning;</li>
<li>thickened feeds;</li>
<li>caloric enrichment;</li>
<li>selection of nipples and bottles; and</li>
<li>breast nipple shield to assist the infant latching onto the breast.</li>
</ul>
"Oral motor stimulation and training [for management of swallowing impairments in individuals with congenital myopathies] have been recommended, but evidence of effectiveness is mixed.... If supplemental feeds are provided by a nasogastric or gastrostomy tube, oral stimulation should continue to avoid future oral aversion” (p. 376).
