Speech Therapy in Spinal Muscular Atrophy

Speech Therapy in Spinal Muscular Atrophy

According to the American Speech-Language-Hearing Association, speech therapists work to improve human communication, swallowing difficulties, and disorders of upper aerodigestive functioning.1 Given that the same muscles are used for speech, swallowing, and clearing the airway, the role of speech therapists is to identify weaknesses in these muscles or the brain’s control of these muscles and to help patients control the muscles to improve relevant functions.2,3 As is the case with other muscular disorders, speech therapists are an important component of the multidisciplinary team working to tailor treatment to the individual needs of each spinal muscular atrophy (SMA) patient, and much of the speech therapist’s work is focused on helping those with SMA communicate effectively.4

People with SMA have varying degrees of difficulties with swallowing, speaking, and clearing their airways.5-6 These difficulties tend to be related to abnormalities of lower motor neurons that affect the movement and muscle force of the tongue and submental muscle group.5 Importantly, speech impairment in SMA does not appear to be due to cognitive deficits that could affect language processing.7–9 Unlike some of those with other muscular disorders, children with SMA do not display disabilities related to memory and have normal verbal skills, including fluency and syntax comprehension.9 Older children and adolescents with SMA types 1, 2, and 3 have actually been shown to perform better than average on tests of verbal cognition.10

Despite the lack of pre-existing cognitive deficits in children with SMA, the poor verbal communication that some SMA children experience – particularly those with SMA type 1 – can restrict their interaction with the environment and therefore lead to cognitive difficulties.11 Speech therapists can help these children to improve their abilities to communicate and interact with their environment so that they can be cognitively stimulated. Improving SMA patients’ ability to communicate may also mitigate to some extent the decreased quality of life experienced by these patients and their caregivers.12

When asked about their physical complaints, SMA type 1 patients are some of the most likely SMA patients to point to voice and speech problems as a primary concern.13 Much of the research into speech in SMA thus focuses on speech in SMA type 1. Speech difficulties are often complicated in these patients by the need for respiratory support interventions. SMA type 1 patients may live beyond the age of two with the help of either tracheostomy or noninvasive respiratory support.14 Though there is some disagreement over which of these two interventions is the preferred method,15,16 unlike tracheostomy, noninvasive respiratory support is more strongly associated with speech ability.14 There has been some success in teaching children who have undergone tracheostomies to successfully tolerate and use speaking valves, but there is little evidence on the effects of these valves on verbal communication.17 It is also important to note that compared to untreated SMA type 1 patients, those with noninvasive mechanical ventilation were better at verbal communication.18

Whether SMA patients are ventilated or not, speech therapists work with them to improve their communication abilities in their given situation and context. Employing communication devices has been shown to improve language development in SMA type 1 children,19 and when speech is unintelligible, more high tech devices can help. Augmentative and alternative communication, for instance, can substitute for speech.20 Regardless of the specific context, speech therapists work with those with SMA to ensure they are optimizing their ability to communicate. 

References

1. Ad Hoc Committee on Scope of Practice in Speech-Language Pathology.; 2001. http://staff.washington.edu/jct6/ASHAScopeofPracticeSLP2001.pdf.

2. Carnaby GD, Harenberg L. What is “usual care” in dysphagia rehabilitation: a survey of USA dysphagia practice patterns. Dysphagia. 2013;28(4):567-574. doi:10.1007/s00455-013-9467-8

3. Alves ICF, Andrade CRF de. Functional change in the pattern of swallowing through the performance of orofacial exercises. CoDAS. 2017;29(3):e20160088. doi:10.1590/2317-1782/20172016088

4. Sparks SE, Quijano-Roy S, Harper A, et al. Congenital Muscular Dystrophy Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle (WA); 1993.

5. van den Engel-Hoek L, Erasmus CE, van Bruggen HW, et al. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem? Neurology. 2009;73(21):1787-1791. doi:10.1212/WNL.0b013e3181c34aa6

6. Gormley MC. Respiratory management of spinal muscular atrophy type 2. J Neurosci Nurs. 2014;46(6):E33-41. doi:10.1097/JNN.0000000000000080

7. Whelan TB. Neuropsychological performance of children with Duchenne muscular dystrophy and spinal muscle atrophy. Dev Med Child Neurol. 1987;29(2):212-220.

8. Billard C, Gillet P, Barthez M, Hommet C, Bertrand P. Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Dev Med Child Neurol. 1998;40(1):12-20.

9. Billard C, Gillet P, Signoret JL, et al. Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison  with spinal muscular atrophy. Neuromuscul Disord. 1992;2(5-6):371-378.

10. von Gontard A, Zerres K, Backes M, et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord. 2002;12(2):130-136.

11. Polido GJ, Barbosa AF, Morimoto CH, et al. Matching pairs difficulty in children with spinal muscular atrophy type I. Neuromuscul Disord. 2017;27(5):419-427. doi:10.1016/j.nmd.2017.01.017

12. Lopez-Bastida J, Pena-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal  muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141. doi:10.1186/s13023-017-0695-0

13. de Groot IJM, de Witte LP. Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med. 2005;37(4):258-262. doi:10.1080/16501970510030156

14. Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol. 2002;34(1):16-22. doi:10.1002/ppul.10110

15. Panitch HB. COUNTERPOINT: Is noninvasive ventilation always the most appropriate manner of long-term ventialtion for infants with spinal muscular atrophy type 1? No. Chest. 2017;151(5):965-968. doi:10.1016/j.chest.2016.11.039

16. Bach JR. POINT: Is noninvasive ventilation always the most appropriate manner of long-term ventialtion for infants with spinal muscular atrophy type 1? Yes, Almost Always. Chest. 2017;151(5):962-965. doi:10.1016/j.chest.2016.11.043

17. Zabih W, Holler T, Syed F, Russell L, Allegro J, Amin R. The use of speaking valves in children with tracheostomy tubes. Respir Care. 2017;62(12):1594-1601. doi:10.4187/respcare.05599

18. Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007;86(5):338-339,379. doi:10.1097/PHM.0b013e31804a8505

19. Sakai S, Maki M, Sakai N, Sudoh A, Kato M, Saitoh S. [Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL]. No to hattatsu = Brain Dev. 2012;44(6):465-471.

20. Ball LJ, Fager S, Fried-Oken M. Augmentative and alternative communication for people with progressive neuromuscular disease. Phys Med Rehabil Clin N Am. 2012;23(3):689-699. doi:10.1016/j.pmr.2012.06.003