1. Swallowing function in people with Friedreich ataxia Megan J Keage a, Louise Corbenb , Martin Delatyckib & Adam P. Vogela
Swal-QOL items (total)
FRDA
(n=18, mean age 35.1 y)
Young healthy controls (n=16, mean age 25.1 y) % score mean (Leow et al., 2010)
Older Healthy controls (n=16, mean age 72.8 y) % score mean (Leow et al., 2010)
Mean ± SD
% score mean
Burden (10)
8.50 ± 2.10
85.00
100
99.7
Eating Duration (10)
6.83 ± 2.23
68.33
98.4
94.5
Eating Desire (15)
12.61 ± 2.87
84.07 99
Symptom Frequency (70)
54.94 ± 2.01
78.49 97 91
Food Selection (10)
8.44 ± 2.01
84.44
97.7
Communication (10)
7.67 ± 1.57
76.67 93
Fear (20)
15.11 ± 3.55
75.55
98.1
Mental Health (25)
20.83 ± 3.85
83.33
Social (25)
22.83 ± 3.85
91.33
Fatigue (15)
9.22 ± 3.44
57.64 88 87
Sleep (10)
6.72 ± 2.51
67.22
88.3
81.3
BACKGROUND
Swallowing difficulties (dysphagia) are common in people with Friedreich ataxia [FRDA] yet very little is known about the nature, severity, or impact of dysphagia in this population. Critically, the evidence base for treating dysphagia in people with FRDA remains extremely weak (Vogel et al., 2012).
Swal-QOL items (total)
Patients with FRDA % score mean (SD) (n=18, mean age 35.1 y)
Young healthy controls % score mean (n=16, mean age 25.1 y) (Leow et al., 2010)
Older Healthy controls % score mean (n=16, mean age 72.8 y) (Leow et al., 2010)
Burden (10)
85.00 (2.10)
100
99.7
Eating Duration (10)
68.33 (2.23)
98.4
94.5
Eating Desire (15)
84.07 (2.87) 99
Symptom Frequency (70)
78.49 (2.01) 97 91
Food Selection (10)
84.44 (2.01)
97.7
Communication (10)
76.67 (1.57) 93
Fear (20)
75.55 (3.55)
98.1
Mental Health (25)
83.33 (3.85)
Social (25)
91.33 (3.85)
Fatigue (15)
57.64 (3.44) 88 87
Sleep (10)
67.22 (2.51)
88.3
81.3
METHODS
18 adult participants (9 males, mean age 35.1 ± 9.0) with confirmed genetic diagnosis of FRDA were recruited. All participants reported clinical signs of dysphagia as established via a Swallow Quality of Life Questionnaire (Swal-QOL) (McHorney et al., 2000). All participants were assessed via clinical bedside swallowing assessment (e.g., trial of liquids, solids), and oral motor assessment (Frenchay Dysarthria Assessment, 2nd ed.) (FRDA-2) (Enderby, 1980). Nine participants underwent a Videofluoroscopic Study of Swallowing (VFSS). Additional clinical outcomes were collated including age of disease onset, disease duration, the GAA repeat size for both the smaller and large allele, and the Friedreich Ataxia Rating Scale (FARS) (Subramony et al., 2005).
ABOVE – Swal-QOL results of 18 adults with FRDA (single time point, compared with healthy controls), where higher score is more favourable. 100% reported symptoms of dysphagia. 47% experienced burden, 58% had reduced eating desire, 95% experienced fear, 74% experienced reduced mental health, 42% found dysphagia impacted on social functioning, 100% reported fatigue, and 79% reported interrupted sleeping patterns.
Swal-QOL symptoms
FRDA (n=18)
Normals (n=40, mean age 72.9) (McHorney et al., 2002)
Mean difference
Coughing
3.33
3.60
0.27
Choking when you eat food
3.72
4.47
0.75
Choking when you take liquids
3.4
4.55
1.15
Having thick saliva of phlegm
3.83
3.85
0.02
Gagging
4.00
4.74
0.74
Drooling
4.28
4.59
0.31
Problems chewing
4.44
4.64
0.20
Having excess saliva or phlegm
4.17
4.15
-0.02
Having to clear your throat
3.44
3.77
0.33
Food sticking in your throat
0.55
Food sticking in your mouth
3.89
4.72
0.83
Food or liquid dribbling out of your mouth
4.39
0.35
Food or liquid coming out of your nose
4.87
0.15
Coughing food or liquid out of your mouth when it gets stuck
FRDA-2 sub-domains(1 = no impairment, 5 = severe impairment)
Mean ± SD
Reflexes
Cough
2.88 ± 1.28
Swallow
2.50 ± 0.71
Dribble/Drool
1.50 ± 0.62
Respiration
At Rest
1.94 ± 0.62
In Speech
1.89 ± 0.58
Lips
1.28 ± 0.46
Spread
1.22 ± 0.43
Seal
1.75 ± 0.55
Alternate
2.11 ± 0.50
2.22 ± 0.55
Palate
Fluids
1.11 ± 0.32
Maintenance
1.19 ± 0.39
2.17 ± 0.51
Laryngeal
Time
2.28 ± 1.02
Pitch
3.11 ± 1.08
Volume
3.06 ± 1.00
2.13 ± 0.84
Tongue
1.72 ± 0.57
Protrusion
Elevation
2.33 ± 0.97
Lateral
2.00 ± 0.91
2.50 ± 0.62
2.39 ± 0.61
Intelligibility
Words
1.67 ± 0.77
Sentences
1.83 ± 0.79
Conversation
1.72 ± 0.67
ABOVE – VFSS of a 38 year old female with FRDA, highlighting poor bolus formation and lingual control of bread bolus, and silent aspiration of regular/unmodified fluids.
LEFT – Results of FRDA-2, indicating deficits in several oral-motor domains.
Right – VFSS of an adult female with FRDA, demonstrating reduced tongue function affecting bolus preparation, tongue-to-palate approximation, and anterior-to-posterior transfer of food bolus. The second image shows trace silent aspiration of regular fluids.
CONCLUSIONS
Preliminary results demonstrate a high prevalence of dysphagia in patients with FRDA. The relatively high proportion of patients penetrating or aspirating on fluids and solid food suggests these individuals are at risk of aspiration pneumonia. Data on reduced tongue function may be a viable therapeutic target in future treatment research.
RESULTS
100% of participants presented with symptoms of oropharyngeal dysphagia on bedside examination. Swallowing function was characterised by reduced bolus formation and manipulation in the oral phase, poor tongue motility, delayed swallow reflex, and overt signs of penetration and/or aspiration. On VFSS, 4/9 of participants demonstrated penetration and/or aspiration of the airway on fluids and solids (biscuit and puree).
REFERENCES
Enderby, P. (1980). IJCLD, 15(3),
Leow et al. (2010). Dysphagia, 25(3),
McHorney, et al. (2000). Dysphagia, 15(3),
Subramony, et al. (2005). Neurology, 64(7),
Vogel et al. (2012). Cochrane Database of Systematic Reviews, 10. (Protocol).
AFFILIATIONS a Speech Neuroscience Unit, The University of Melbourne, Australia, B Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia