A total of 12 persons with ARSACS participated in the semi-structured interviews. Their characteristics can be seen in the Table 1. The interviews took place between January 2019 and March 2019 inclusively and had a mean duration of approximately 45 minutes (app. 24 to 88 minutes).
Table 1
Characteristics of study population for semi-structured interviews (n = 12)
Characteristics | Total group | No walking difficulty (n = 3) | Walking aid (n = 4) | Wheelchair (n = 5) |
Age | | | | |
Mean | 39.3 | 23.7 | 44.3 | 44 |
Range | 18–66 | 18–31 | 36–66 | 35–54 |
Sex (n) | | | | |
Female | 6 | 1 | 3 | 2 |
Male | 6 | 2 | 1 | 3 |
The results are reported following the PROMIS conceptual framework. The Table 2 summarized the results of the review of literature and the semi-structured interviews. It is to note that, in qualitative research using interviews, prevalence refers to the number of participants who mentioned the difficulty, which does not mean that the other participants do not experience this difficulty. This section presents only the difficulties that has been self-reported by participants during the interviews, in comparison with literature. Refer to the Table 3 for the other elements present in the literature but which are not self-reported.
Table 2
Results of the review of literature and the semi-structured interviews – self-reported findings
PHYSICAL HEALTH |
Sub-component | Themes | Literature | Prevalence in the ARSACS sample (n = 12) |
Symptoms | Pain | Bouchard, Barbeau, Bouchard, & Bouchard, 1978;Briand et al., 2019; Çakar et al., 2002; Dougherty et al., 2018; Sahin et al., 2021 | 4 |
Cramps and spasms | Bouchard et al., 1978; Briand et al., 2019; Cynthia Gagnon et al., 2018; Habibzadeh et al., 2020; Leavitt, Singer, Brown, Pulido, & Brodsky, 2014; Rezende Filho et al., 2019 | 5 |
Fatigue | N/D | 10 |
Functions | Lower limbs and mobility | | |
Impaired walking | Abkur, Vijayakumar, Churchill, & Stevens, 2020; Agarwal, Ate-Upasani, & Ramprasad, 2017; Agarwal, Garg, Kharat, & Qavi, 2020; Bourassa et al., 2020; Breckpot et al., 2008; Çakar et al., 2002; Dougherty, Harper, Al Saif, Vorona, & Haines, 2018; Chen et al., 2021; Cho et al., 2021; Grieco et al., 2004; Gücüyener et al., 2001; Habibzadeh et al., 2020; Haga et al., 2012; Kamada, Okawa, Imota, Sugawara, & Toyoshima, 2008; Kwon et al., 2015; Lu et al., 2020; McKensie et al., 2014; Martin, Bouchard, Sylvain, St-Onge, & Truchon, 2007; Masciullo et al., 2014; Miyatake et al., 2012; Ogawa et al., 2004; Pensabene et al., 2020; Petrov, 2021; Prodi et al., 2013; Rezende Filho et al., 2019; Sahin et al., 2021; Samanci et al., 2021; Verhoeven et al., 2020; Wagner, Titelbaum, Engisch, Coskun, & Waugh, 2019; Xiromerisiou et al., 2020 | 8 |
Loss of mobility | Aida et al., 2021; Bouchard, 1991; Bouchard, Barbeau, Bouchard, & Bouchard, 1979; Bouchard et al., 1998; Cho et al., 2021; El Euch-Fayache et al., 2003; Gagnon et al., 2018; Gagnon, Lessard et al., 2021; Lessard, Lavoie, et al., 2018; Gazulla et al., 2012; Grieco et al., 2004; Kwon et al., 2015; Pensabene et al., 2020; Petrov, 2021; Robitaille, Richter, Mathieu, & Bouchard, 2007; Sahin et al., 2021; Samanci et al., 2021; Sheetal, Kumar, & Byju, 2020; Srikajon, Pitakpatapee, Limwongse, Chirapapaisan, & Srivanitchapoom, 2020; Shimazaki, Sakoe, Niijima, Nakano, & Takiyama, 2007; Terracciano et al., 2009; Tzoulis et al., 2013 | N/D |
Use of walking aid | Aida et al., 2021; Al-Ajmi, Shamsah, Janicijevic, Williams, & Al-Mulla, 2020; Anheim et al., 2008; Bourassa et al., 2020; Breckpot et al., 2008; Gagnon, Brais, et al., 2018; Garcia, Criscuolo, de Michele, & Berciano, 2008; Haga et al., 2012; Hara et al., 2005; Incecik, Hergüner, & Bisgin, 2018; Kamada et al., 2008; Leavitt et al., 2014; Lessard et al., 2021; Liew et al., 2013; Miyatake et al., 2012; Narayanan, Rice, Olfers, & Sivakumar, 2011; Ogawa et al., 2004; Palmio et al., 2016; Richter, Ozgul, Poisson, & Topaloglu, 2004; Sahin et al., 2021; Samanci et al., 2021; Srikajon et al., 2020; Shimazaki et al., 2007; Terracciano et al., 2009; van Lint, Hoornaert, & Ten Tusscher, 2016; Verhoeven et al., 2012; Wang et al., 2021 | N/D |
Stiffness | Agarwal et al., 2020; Bouchard et al., 1978; Breckpot et al., 2008; Griecio 2004; Haga 2012; Leavitt 2014; Samanci et al., 2021; Wagner, Titelbaum, Engisch, Coskun, & Waugh, 2019 | 7 |
Foot abnormalities | Abkur et al., 2020; Agarwal et al., 2020; Agarwal et al., 2017; Al-Ajmi et al., 2020; Z. Ali et al., 2016; Anheim et al., 2008; Baets et al., 2010; Bouchard, 1991; Bouchard et al., 1978; Burguêz et al., 2017; Çakar et al., 2002; Chen et al., 2021; Criscuolo et al., 2015; Desserre et al., 2011; Duquette et al., 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Gazulla et al., 2012; Gazulla et al., 2014; Gazulla et al., 2011; Gregianin et al., 2013; Grieco et al., 2004; Habibzadeh et al., 2020; Hamza et al., 2015; Hara et al., 2005; Incecik et al., 2018; Kamada et al., 2008; Krygier et al., 2017; Kwon et al., 2015; Leavitt et al., 2014; Liu et al., 2016; Lu et al., 2020; Masciullo et al., 2012; McKenzie, Sharma, Parboosingh, Suchowersky, & Consortium, 2014; Mignarri et al., 2014; Miyatake et al., 2012; Ogawa et al., 2004; Okawa et al., 2006; Ouyang et al., 2006; Pablo et al., 2011; Palmio et al., 2016; Parkinson et al., 2018; Pedroso et al., 2011; Pensabene et al., 2020; Prodi et al., 2013; Ricca, Tessa, Trovato, Bacci, & Santorelli, 2020; Rezende Filho et al., 2019; Ricca et al., 2019; Saffie et al., 2017; Sahin et al., 2021; Shimazaki et al., 2007; Shimazaki et al., 2005; Terracciano et al., 2009; Terracciano et al., 2010; Vermeer et al., 2008; Vill et al., 2018; Wang et al., 2021 | 2 |
Balance | Abkur et al., 2020; Agarwal et al., 2020; Agarwal et al., 2017; Al-Ajmi et al., 2020; Bouchard, 1991; Bouchard et al., 1978; Bouchard & Langlois, 1999; Bourassa et al., 2020; Burguêz et al., 2017; Cho et al., 2021; Dougherty et al., 2018; Gagnon et al., 2018; Habibzadeh et al., 2020; Incecik et al., 2018; Kuchay et al., 2019; Liu et al., 2016; Lu et al., 2020; McKenzie et al., 2014; 2007; Miyatake et al., 2012; Narayanan et al., 2011; Palmio et al., 2016; Prodi et al., 2013; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Srikajon et al., 2020; van Lint et al., 2016; Wagner et al., 2019; Wang et al., 2021; Yamamoto et al., 2005; Xiromerisiou et al., 2020 | 11 |
Upper limbs | | |
Dexterity | Gagnon et al., 2004; Incecik et al., 2018; Martin et al., 2007; Okawa et al., 2006; Sahin et al., 2021; Sheetal et al., 2020; Terracciano et al., 2010; Wang et al., 2021 | 9 |
Strength | Bouchard et al., 1978, 1979; Bourassa et al., 2020; Gazulla et al., 2012; Gregianin et al., 2013; Grieco et al., 2004; Hara et al., 2005; Kamada et al., 2008; Leavitt et al., 2014; Okawa et al., 2006; Palmio et al., 2016; Parkinson et al., 2018; Picher-Martel & Dupre, 2018; Ricca et al., 2019; Richards, Bouchard, Bouchard, & Barbeau, 1980; Vermeer et al., 2008; Wang et al., 2021 | N/D |
Muscle atrophy and weakness | Abkur et al., 2020; Aida et al., 2021; Al-Ajmi et al., 2020; Z. Ali et al., 2016; Anheim et al., 2008; Baets et al., 2010; Bouchard, Barbeau, Bouchard, & Bouchard, 1978; Breckpot et al., 2008; Burguêz et al., 2017; Çakar et al., 2002; Chen et al., 2021; Dougherty, Harper, Al Saif, Vorona, & Haines, 2018; Gagnon, Desrosiers, & Mathieu, 2004; Gazulla, Benavente, Vela, Marin, et al., 2012; Gazulla et al., 2011; Gregianin et al., 2013; Grieco et al., 2004; Hara et al., 2005; Kamada, Okawa, Imota, Sugawara, & Toyoshima, 2008; Krygier et al., 2017; Kuchay et al., 2019; Leavitt, Singer, Brown, Pulido, & Brodsky, 2014; Liu et al., 2016; Lu et al., 2020; Masciullo et al., 2014; McKenzie, Sharma, Parboosingh, Suchowersky, & Consortium, 2014; Miyatake et al., 2012; Okawa, Sugawara, Watanabe, Imota, & Toyoshima, 2006; Palmio et al., 2016; Parkinson et al., 2018; Picher-Martel & Dupre, 2018; Pensabene et al., 2020; Prodi et al., 2013; Ricca et al., 2020; Ricca et al., 2019; Richards, Bouchard, Bouchard, & Barbeau, 1980; Samanci et al., 2021; Shimazaki et al., 2013; Shimazaki, Takiyama, Sakoe, Ando, & Nakano, 2005; Terracciano et al., 2010; Tzoulis et al., 2013; Vermeer et al., 2008; Vill, Müller-Felber, Gläser, Kuhn, Teusch, Schreiber, Weis, Klepper, Schirmacher, & Blaschek, 2018; Yamamoto et al., 2005; Xiromerisiou et al., 2020 | 8 |
Coordination | Gagnon et al., 2004; Leavitt et al., 2014; Lessard et al., 2021; Lu et al., 2020; McKenzie et al., 2014; Oguz et al., 2013; Sheetal et al., 2020 | 6 |
Bladder and bowel functions | | 5 |
Urinary urgency | Bouchard et al., 1978; El Euch-Fayache et al., 2003; Gregianin et al., 2013; Grieco et al., 2004; Leavitt et al., 2014; McKenzie et al., 2014; Mignarri et al., 2014; Prodi et al., 2013; Synofzik et al., 2013; Terracciano et al., 2010; Tzoulis et al., 2013; Vermeer et al., 2008; Wang et al., 2021 | N/D |
Urinary incontinence | Bouchard, 1991; Bouchard et al., 1978; Gregianin et al., 2013; Mignarri et al., 2014; Miyatake et al., 2012; Sahin et al., 2021; Synofzik et al., 2013; Tzoulis et al., 2013) | N/D |
Fecal urgency | Bouchard, 1991; Briand et al., 2019; Gregianin et al., 2013; Synofzik et al., 2013 | N/D |
Other bladder and bowel dysfunctions | Dziewulska, 2020; Miyatake et al., 2012; Palmio et al., 2016; Rezende Filho et al., 2019; Yamamoto et al., 2005 | N/D |
Sexual functions | Miyatake et al., 2012; Synofzik et al., 2013 | 2 |
Dysarthria | Agarwal et al., 2020; Agarwal et al., 2017; Z. Ali et al., 2016; Aida et al., 2021; Al-Ajmi et al., 2020; Anheim et al., 2008; Baets et al., 2010; Blumkin et al., 2015; Borruat et al., 2017; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Bouchard & Langlois, 1999; Bouhlal et al., 2009; J. Breckpot et al., 2008; Burguêz et al., 2017; Chen et al., 2021; Cho et al., 2021; Criscuolo et al., 2015; Desserre et al., 2011; Duquette et al., 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Garcia et al., 2008; Gazulla et al., 2014; Grieco et al., 2004; Gücüyener et al., 2001; Habibzadeh et al., 2020; Haga et al., 2012; Hara et al., 2005; Hamza et al., 2015; Incecik et al., 2018; Kamada et al., 2008; Karuvath, Patwari, & Chadaga, 2021; Krygier et al., 2017; Kuchay et al., 2019; Kwon et al., 2015; Leavitt et al., 2014; Lu et al., 2020; Martin et al., 2007; Masciullo et al., 2014; McKenzie et al., 2014; Mignarri et al., 2014; Miyatake et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Oguz et al., 2013; Ouyang et al., 2006; Palmio et al., 2016; Pedroso et al., 2011; Pensabene et al., 2020; Petrov, 2021; Ricca et al., 2020; Richter et al., 2004; Robitaille et al., 2007; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Shimazaki et al., 2007; Shimazaki et al., 2005; Srikajon et al., 2020; Stevens et al., 2013; Synofzik et al., 2013; Terracciano et al., 2009; Terracciano et al., 2010; Tzoulis et al., 2013; Van Damme, Demaerel, Spileers, & Robberecht, 2009; van Lint et al., 2016; Verhoeven et al., 2012; Vermeer et al., 2008; Vill et al., 2018; Vingolo et al., 2011; Vogel et al., 2018; Wagner et al., 2019; Yamamoto et al., 2005; Wang et al., 2021 | 5 |
Eye function | Abkur et al., 2020; Agarwal et al., 2020; Agarwal et al., 2017; Aida et al., 2021; Al-Ajmi et al., 2020; Anheim et al., 2008; Anheim et al., 2010; Baets et al., 2010; Blumkin et al., 2015; Borruat et al., 2017; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Bouchard & Langlois, 1999; Bouhlal et al., 2009; Burguêz et al., 2017; Çakar et al., 2002; Cho et al., 2021; Criscuolo et al., 2015; Desserre et al., 2011; Dionne, Wright, Barber, Bouchard, & Bouchard, 1979; Dougherty et al., 2018; Douglas, Douglas, Miller, & Gaier, 2021;Duquette et al., 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Garcia et al., 2008; Gazulla et al., 2012; Gazulla et al., 2014; Gazulla et al., 2011; Grieco et al., 2004; Gücüyener et al., 2001; Habibzadeh et al., 2020; Hamza et al., 2015; Hara et al., 2005; Incecik et al., 2018; Kamada et al., 2008; Krygier et al., 2017; Kuchay et al., 2019; Kwon et al., 2015; Leavitt et al., 2014; Liew et al., 2013; Liu et al., 2016; Lu et al., 2020; Masciullo et al., 2012; McKenzie et al., 2014; McMillan et al., 2009; Miyatake et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Oguz et al., 2013; Okawa et al., 2006; Ouyang et al., 2006; Pablo et al., 2011; Palmio et al., 2016; Parkinson et al., 2018; Pedroso et al., 2011; Pensabene et al., 2020; Picher-Martel & Dupre, 2018; Rezende Filho et al., 2019; Rezende Filho, Pedroso, & Barsottini, 2018; Ricca et al., 2019; Richter et al., 2004; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Shimazaki et al., 2007; Shimazaki et al., 2013; Stevens et al., 2013; Srikajon et al., 2020; Synofzik et al., 2013; Terracciano et al., 2009; Terracciano et al., 2010; Tzoulis et al., 2013; van Lint et al., 2016; Vermeer et al., 2008; Vill et al., 2018; Vingolo et al., 2011; Wang et al., 2021; Yamamoto et al., 2005; Yu-Wai-Man et al., 2014; Xiromerisiou et al., 2020 | 2 |
Dysphagia | Bouchard et al., 1978; Cho et al., 2021; Gagnon, Lessard, Brais, et al., 2018; Grieco et al., 2004; McKenzie et al., 2014; Miyatake et al., 2012; Prodi et al., 2013; Rezende Filho et al., 2019; Sahin et al., 2021; Samanci et al., 2021; Shimazaki et al., 2007; Terracciano et al., 2010; Tzoulis et al., 2013; Vermeer et al., 2008; Vingolo et al., 2011; Vogel et al., 2018 | 5 |
Physical activities | Aida et al., 2021; Dougherty et al., 2018; Habibzadeh et al., 2020; Haga et al., 2012; Ouyang et al., 2008; Sheetal et al., 2020; Shimazaki et al., 2007; Wagner et al., 2019; Wang et al., 2021; Yamamoto et al., 2005; Xiromerisiou et al., 2020 | 5 |
ADLs | Bourassa et al., 2020; Gagnon et al., 2004; Gagnon, Brais, Lessard, Lavoie, Cote, et al., 2018; Petrov, 2021 | 7 |
MENTAL HEALTH |
Affect | Anxiety | Forgue, Bouchard, & Gallais, 2019; Mignarri et al., 2014 | 2 |
Depression | Forgue, Bouchard, & Gallais, 2019; Mignarri et al., 2014; Petrov, 2021 | 4 |
Frustration | Mignarri et al., 2014 | 6 |
Negative psychosocial impact of illness | Forgue, Bouchard, & Gallais, 2019 | 2 |
Behavior | | N/D | N/D |
Cognition | Cognitive abilities | Ali, King, Strydom, & Hassiotis, 2016; Bouchard et al., 1978, 1979; Jeroen Breckpot et al., 2008; Çakar et al., 2002; Dougherty et al., 2018; Gücüyener et al., 2001; Kamada et al., 2008; Kuchay et al., 2019; Mignarri et al., 2014; Ogawa et al., 2004; Oguz et al., 2013; Okawa et al., 2006; Petrov, 2021; Pilliod et al., 2015; Prodi et al., 2013; Ricca et al., 2019; Richter et al., 2004; Shimazaki et al., 2013; Terracciano et al., 2009; Verhoeven et al., 2012; Yamamoto et al., 2005 | 10 |
| Memory | Briand et al., 2019; Hara et al., 2005; Krygier et al., 2017 | N/D |
| Attention | Briand et al., 2019 | N/D |
| Other cognitive dysfunctions | Desserre et al., 2011; Duquette et al., 2013; Hamza et al., 2015; Hara et al., 2005; Lu et al., 2020; Prodi et al., 2013; Tzoulis et al., 2013 | N/D |
SOCIAL HEALTH |
Relationships | | Forgue et al., 2019 | 6 |
Function | Work | Bourassa et al., 2020; Forgue, Bouchard, & Gallais, 2019; Tremblay et al., 2020; Verhoeven et al., 2012 | 12 |
Studies | Breckpot et al., 2008; Duquette et al., 2013; Grieco et al., 2004; Kamada et al., 2008; Pilliod et al., 2015; Prodi et al., 2013; Sheetal et al., 2020 | 5 |
Parenthood | N/D | 2 |
Social activities | Forgue et al., 2019; Gagnon et al., 2018; Gagnon et al., 2004; Gagnon, Lessard, Lavoie, et al., 2018 | 9 |
Table 3
Others results of the review of literature
Components | Sub-components | Literature |
Audition | | Briand et al., 2019 |
Nervous system | | |
| Epilepsy | Çakar et al., 2002; Duquette et al., 2013; Wang et al., 2021 |
| Dizziness | Bouchard et al., 1978 |
Locomotor functions | Tremor | Abkur et al., 2020; Bouchard et al., 1978; Dougherty et al., 2018; Incecik et al., 2018; Liew et al., 2013; McKenzie et al., 2014; Narayanan et al., 2011; Palmio et al., 2016; Pensabene et al., 2020; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Vill et al., 2018 |
| Brisk/ hyperreflexia | Agarwal et al., 2020; Anheim et al., 2008; Blumkin et al., 2015; Borruat et al., 2017; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Breckpot et al., 2008; Burguêz et al., 2017; Criscuolo et al., 2015; Dougherty et al., 2018; Duquette et al., 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Garcia et al., 2008; Gregianin et al., 2013; Grieco et al., 2004; Habibzadeh et al., 2020; Haga et al., 2012; Hamza et al., 2015; Hara et al., 2005; Incecik et al., 2018; Karuvath et al., 2021; Liu et al., 2016; Martin et al., 2007; McKenzie et al., 2014; Ogawa et al., 2004; Okawa et al., 2006; Parkinson et al., 2018; Pedroso et al., 2011; Picher-Martel & Dupre, 2018; Prodi et al., 2013; Rezende Filho et al., 2019; Richter et al., 2004; Samanci et al., 2021; Saffie et al., 2017; Sheetal et al., 2020; Shimazaki et al., 2007; Shimazaki et al., 2013; Terracciano et al., 2010; Vingolo et al., 2011; Wagner et al., 2019; Xiromerisiou et al., 2020; Yamamoto et al., 2005 |
| Tendon reflex absent/ decreased | Agarwal et al., 2017; Aida et al., 2021; Al-Ajmi et al., 2020; Anheim et al., 2008; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Bouhlal et al., 2009; Breckpot et al., 2008; Burguêz et al., 2017; Chen et al., 2021; Criscuolo et al., 2015; Desserre et al., 2011; Dougherty et al., 2018; Duquette et al., 2013; El Euch-Fayache et al., 2003; Gazulla et al., 2012; Grieco et al., 2004; Gücüyener et al., 2001; Habibzadeh et al., 2020; Hara et al., 2005; Kamada et al., 2008; Krygier et al., 2017; Kuchay et al., 2019; Kwon et al., 2015; Leavitt et al., 2014; Liu et al., 2016; Mignarri et al., 2014; Miyatake et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Okawa et al., 2006; Palmio et al., 2016; Parkinson et al., 2018; Prodi et al., 2013; Sahin et al., 2021; Shimazaki et al., 2007; Shimazaki et al., 2013; Shimazaki et al., 2005; Terracciano et al., 2009; Terracciano et al., 2010; Verhoeven et al., 2012; Vermeer et al., 2008; Vill et al., 2018; Wang et al., 2021; Xiromerisiou et al., 2020; Yamamoto et al., 2005 |
| Clonus | Gregianin et al., 2013; Hara et al., 2005; Incecik et al., 2018; Karuvath et al., 2021; Liu et al., 2016; Martin et al., 2007; Narayanan et al., 2011; Prodi et al., 2013 |
| Dystonia | Gazulla, Benavente, Vela, Marín, et al., 2012; Lu et al., 2020; McKenzie et al., 2014; Oguz et al., 2013; Rezende Filho et al., 2019; Vermeer et al., 2008 |
| Dysmetria | Agarwal et al., 2020; Agarwal et al., 2017; Baets et al., 2010; Borruat et al., 2017; Chen et al., 2021; Criscuolo et al., 2015; Dougherty et al., 2018; Gazulla et al., 2012; Gazulla et al., 2014; Grieco et al., 2004; Martin et al., 2007; Masciullo et al., 2014; Pensabene et al., 2020; Ricca et al., 2020; Ricca et al., 2019; Srikajon et al., 2020; Synofzik et al., 2013; Terracciano et al., 2009; Vill et al., 2018; Xiromerisiou et al., 2020 |
| Spasticity | Agarwal et al., 2020; Agarwal et al., 2017; Anheim et al., 2008; Borruat, Holder, & Bremner, 2017; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; J. Breckpot et al., 2008; Burguêz et al., 2017; Çakar et al., 2002; Criscuolo et al., 2015; Desserre et al., 2011; Dougherty et al., 2018; Douglas et al., 2021; Duquette, Brais, Bouchard, & Mathieu, 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Gazulla et al., 2012; Gazulla, Mayayo-Sinues, Benavente, Modrego, & Berciano, 2014; Gazulla et al., 2011; Gregianin et al., 2013; Grieco et al., 2004; Gücüyener et al., 2001; Haga et al., 2012; Hamza et al., 2015; Hara et al., 2005; Incecik et al., 2018; Krygier et al., 2017; Kuchay et al., 2019; Kwon et al., 2015; Leavitt et al., 2014; Lessard et al., 2021; Liew et al., 2013; Martin et al., 2007; Masciullo et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Oguz et al., 2013; Okawa, Sugawara, Watanabe, Imota, & Toyoshima, 2006; Pablo et al., 2011; Palmio et al., 2016; Parkinson et al., 2018; Pedroso et al., 2011; Pensabene et al., 2020; Petrov, 2021; Pilliod et al., 2015; Rezende Filho et al., 2019; Richter et al., 2004; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Shimazaki et al., 2007; Shimazaki et al., 2013; Srikajon et al., 2020; Synofzik et al., 2013; Terracciano et al., 2010; Tzoulis et al., 2013; Vermeer et al., 2008; Yamamoto et al., 2005 |
| Ataxia | Agarwal et al., 2020; Agarwal et al., 2017; Aida et al., 2021; Al-Ajmi et al., 2020; Z. Ali et al., 2016; Anheim et al., 2008; Baets et al., 2010; Blumkin et al., 2015; Borruat et al., 2017; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Bouhlal, El Euch-Fayeche, Hentati, & Amouri, 2009; J. Breckpot et al., 2008; Burguêz et al., 2017; Çakar et al., 2002; Criscuolo et al., 2015; Duquette et al., 2013; Gagnon, Desrosiers, & Mathieu, 2004; Garcia et al., 2008; Gazulla et al., 2012; Gazulla et al., 2011; Grieco et al., 2004; Habibzadeh et al., 2020; Hamza et al., 2015; Incecik et al., 2018; Kamada et al., 2008; Krygier et al., 2017; Kuchay et al., 2019; Kwon et al., 2015; Leavitt et al., 2014; Liu et al., 2016; Lu et al., 2020; Martin et al., 2007; Masciullo et al., 2012; Masciullo et al., 2014; McKenzie et al., 2014; Mignarri et al., 2014; Miyatake et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Oguz et al., 2013; Okawa et al., 2006; Ouyang et al., 2006; Pablo et al., 2011; Palmio et al., 2016; Parkinson et al., 2018; Pedroso et al., 2011; Picher-Martel & Dupre, 2018; J. Pilliod et al., 2015; Rezende Filho et al., 2019; Ricca et al., 2020; Ricca et al., 2019; Saffie et al., 2017; Sahin et al., 2021; Samanci et al., 2021; Shimazaki et al., 2007; Shimazaki et al., 2013; Shimazaki, Takiyama, Sakoe, Ando, & Nakano, 2005; Srikajon et al., 2020; Terracciano et al., 2009; Terracciano et al., 2010; Tzoulis et al., 2013; Verhoeven et al., 2012; Vermeer et al., 2008; Vill et al., 2018; Yamamoto et al., 2005; Xiromerisiou et al., 2020 |
| Distal atrophy | Z. Ali et al., 2016; Anheim et al., 2008; Bouchard, 1991; Bouchard et al., 1978, 1979; Jeroen Breckpot et al., 2008; Criscuolo et al., 2015; Desserre et al., 2011; Duquette et al., 2013; Dziewulska, 2020; El Euch-Fayache et al., 2003; Gagnon, Lessard, Lavoie, et al., 2018; Garcia et al., 2008; Gazulla et al., 2014; Gregianin et al., 2013; Grieco et al., 2004; Haga et al., 2012; Hara et al., 2005; Kamada et al., 2008; Krygier et al., 2017; Kuchay et al., 2019; Leavitt et al., 2014; Liu et al., 2016; Martin et al., 2007; Masciullo et al., 2012; McKenzie et al., 2014; Miyatake et al., 2012; Okawa et al., 2006; Ouyang et al., 2006; Palmio et al., 2016; Pedroso et al., 2011; Prodi et al., 2013; Rezende Filho et al., 2019; Robitaille et al., 2007; Shimazaki et al., 2007; Terracciano et al., 2009; Tzoulis et al., 2013; Verhoeven et al., 2012; Vermeer et al., 2008; Vill et al., 2018; Vingolo et al., 2011 |
| Babinski sign | Anheim et al., 2008; Bouchard, 1991; Bouchard et al., 1978; Bouchard et al., 1998; Burguêz et al., 2017; Chen et al., 2021; Criscuolo et al., 2015; Duquette et al., 2013; Garcia et al., 2008; Gazulla et al., 2012; Gazulla et al., 2014; Gregianin et al., 2013; Grieco et al., 2004; Hamza et al., 2015; Hara et al., 2005; Incecik et al., 2018; Kamada et al., 2008; Kuchay et al., 2019; Kwon et al., 2015; Liu et al., 2016; Martin et al., 2007; Mignarri et al., 2014; Miyatake et al., 2012; Narayanan et al., 2011; Ogawa et al., 2004; Okawa et al., 2006; Ouyang et al., 2006; Palmio et al., 2016; Pensabene et al., 2020; Petrov, 2021; Prodi et al., 2013; Rezende Filho et al., 2019; Ricca et al., 2020; Ricca et al., 2019; Richter et al., 2004; Robitaille et al., 2007; Sahin et al., 2021; Samanci et al., 2021; Shimazaki et al., 2007; Shimazaki et al., 2013; Shimazaki et al., 2005; Srikajon et al., 2020; Synofzik et al., 2013; Terracciano et al., 2009; Terracciano et al., 2010; Verhoeven et al., 2012; Vingolo et al., 2011; Wagner et al., 2019; Wang et al., 2021; Xiromerisiou et al., 2020; Yamamoto et al., 2005 |
| Fasciculations | Leavitt et al., 2014 |
| Pallesthesia of the lower limbs | Anheim et al., 2008; Gazulla et al., 2012; Gregianin et al., 2013; Kamada et al., 2008; McKenzie et al., 2014; Ogawa et al., 2004; Palmio et al., 2016; Rezende Filho et al., 2019; Shimazaki et al., 2007; Vill et al., 2018; Vingolo et al., 2011; Yamamoto et al., 2005 |
| Posture | Bouhlal, Amouri, El Euch-Fayeche, & Hentati, 2011; Dougherty et al., 2018; Gazulla et al., 2012; Gazulla et al., 2014; Gregianin et al., 2013; Tzoulis et al., 2013; Vingolo et al., 2011 |
| Postural control | Shimazaki et al., 2007 |
| Paroxysmal kinesigenic choreoathetosis | Briand et al., 2019 |
| Dysdiachokinesia | Agarwal et al., 2020 |
| Rigidity | Habibzadeh et al., 2020 |
| Mirror movements | Habibzadeh et al., 2020 |
| Hypokinesia | Habibzadeh et al., 2020 |
| Bradikinesia | Wagner et al., 2019 |
Childhood development | Psychomotor delays | Agarwal et al., 2017; Anheim et al., 2008; Bouchard et al., 1998; Dougherty et al., 2018; Gregianin et al., 2013; Grieco et al., 2004; Mignarri et al., 2014; Oguz et al., 2013 |
Sensory system | Peripheral neuropathy of the lower limbs | Abkur et al., 2020; Briand et al. Dziewulska, 2020; 2017; Kuchay et al., 2019; Pedroso et al., 2011; Samanci et al., 2021; Tzoulis et al., 2013 |
| Peripheral neuropathy | Al-Ajmi et al., 2020; Z. Ali, King, et al., 2016; Agarwal et al., 2017; Anheim et al., 2010; Bouhlal et al., 2009; Breckpot et al., 2008; Desserre et al. Dougherty et al. Duquette et al., 2013; 2008; Gregianin et al., 2013; Grieco et al. Krygier et al., 2017; 2019; Liew et al., 2013; Martin et al., 2007; Masciullo et al., 2012; Miyatake et al., 2012; Oguz et al., 2013; Palmio et al., 2016; Pedroso et al., 2011; Pensabene et al., 2020; Pilliod et al., 2015; Rezende Filho et al., 2019; Ricca et al., 2019; Saffie et al., 2017; Shimazaki et al., 2013; Synofzik et al., 2013; Terracciano et al., 2010; Verhoeven et al., 2012; Vermeer et al., 2008; Yu-Wai-Man et al., 2014 |
| Neuropathy | Al-Ajmi et al., 2020; Baets et al., 2010; Bouchard, 1991; Bouchard et al., 1978; Bouhlal et al., 2009; Çakar et al., 2002; Chen et al., 2021; Cho et al., 2021; El Euch-Fayache et al., 2003; Gazulla et al., 2014; Gazulla et al., 2011; Gücüyener et al., 2001; Hara et al., 2005; Kamada et al., 2008; Karuvath et al., 2021; Krygier et al., 2017; Kwon et al., 2015; Leavitt et al., 2014; Liu et al., 2016; Mignarri et al., 2014; Miyatake et al., 2012; Okawa et al., 2006; Parkinson et al., 2018; Pedroso et al., 2011; Ricca et al., 2020; Rezende Filho et al., 2019; Sahin et al., 2021; Sheetal et al., 2020; Shimazaki et al., 2005; Srikajon et al., 2020; Stevens et al., 2013; Tzoulis et al., 2013; Verhoeven et al., 2012; Vermeer et al., 2008; Vill et al., 2018; Wang et al., 2021; Xiromerisiou et al., 2020; Yamamoto et al., 2005 |
| Paresis distal | Breckpot et al., 2008; Dziewulska, 2020; Gregianin et al., 2013; Terracciano et al., 2009; van Lint et al., 2016; Verhoeven et al., 2012; Vill et al., 2018 |
| Paresthesis | Leavitt et al., 2014; Sahin et al., 2021 |
| Proprioception | Kamada et al., 2008; Sahin et al., 2021; Samanci et al., 2021; Sheetal et al., 2020; Srikajon et al., 2020 |
Musculoskeletal deformations | Distal | Bouchard & Langlois, 1999 |
| Upper limbs | Bouchard & Langlois, 1999 |
| Claw hand | Z. Ali et al., 2016; Bouchard et al., 1978; Dougherty et al., 2018; Ogawa et al., 2004; Okawa et al., 2006; Shimazaki et al., 2007; Shimazaki et al., 2005 |
| Scoliosis | Çakar et al., 2002; Criscuolo et al., 2015; Desserre et al., 2011; El Euch-Fayache et al., 2003; Hamza et al., 2015; Prodi et al., 2013 |
| Bone density | McKenzie et al., 2014 |
The first component of the PROMIS conceptual framework is physical health. In this component, there is symptoms and functions as sub-component. Pain and fatigue are the two symptoms identified in the review of literature.
Pain. Little is known in the literature about pain in ARSACS. Authors talk about neuropathic pain in the lower limbs (30, 31), pain in the lower limbs (32), headache (33) and painful cramps in the neck, upper and lower limbs (4). Spasms and cramps are also reported by other authors (10, 30, 34–36). Results show that 4/12 participants feel pain in different body parts (knees, shoulders, back, neck, hands, wrists, ankles, legs). Otherwise, 5/12 participants report muscle cramps or spasms (upper and lower limbs) that can be painful. These symptoms can limit activities like using a computer, performing transfers or hinder sleep.
Fatigue. Fatigue is a symptom in ARSACS that is not documented in literature. However, 10/12 participants report that they experience fatigue as they have trouble to manage their energy or have little endurance. Energy management is reported as a lack of energy that have of lot of impacts in the accomplishment of activities of daily living (ADLs) as the people affected have to implement several coping strategies to deal with fatigue (ex: prioritize tasks, take naps, use of technical or human assistance). The lack of endurance (perform a task for a long time) make affected people feel exhausted rapidly, and, like energy management, affect daily life and require adaptations. Experience fatigue have consequences on performing daily activities and social roles (work, study), and can increase the severity of other manifestation like balance.
The other sub-component of physical health is functions. There are several functions that are affected by ARSACS: lower limbs, upper limbs, balance, strength, coordination, bladder and bowel functions, sexual functions, dysarthria, eye function, dysphagia, physical activities, and ADLs.
Lower limbs and mobility. Even if the literature in ARSACS is scarce, several papers report impaired walking (31–34, 36–61), progressive loss of mobility (7, 32, 39, 53, 55–57, 60, 62–75) and the need to use a walking aid early on and progressively move on to a wheelchair (32, 35, 38, 40, 41, 45, 46, 52, 57, 65, 68, 69, 71, 72, 74, 76–87). In the sample, 8/12 participants report impacts of this progressive loss of mobility. This includes difficulty or incapacity to walk which may involve the use of a walking aid, inactivity and weight gain, financial impacts related to purchasing technical aids and adaptations and a decrease of independence.
Stiffness is also documented in the literature (4, 38–40, 49, 51, 57, 70). Qualitative interview revealed that 7/12 participants experience stiffness that make it difficult for them to be flexible and perform certain tasks like putting on shoes or getting into bath, in addition to increase risk of fall related to stumbling. They describe it as having “heavy legs” that makes them less agile.
Some foot deformities are also reported in ARSACS, like pes cavus, hammer toes and foot drop without clear prevalence (4, 7, 8, 31, 32, 34–37, 39, 41, 44, 46, 47, 50, 51, 54, 55, 59, 60, 64, 68, 75, 76, 78, 79, 82, 86–109). Only 2/12 participants report foot deformities that impact their life. They observed a pronounced arch of the feet that can be painful and needs orthoses.
Balance. Balance difficulties are clearly reported in literature (4, 7, 32–34, 37, 42, 43, 45, 47, 49–54, 57, 58, 65, 72–74, 79, 81, 82, 84, 86, 87, 89, 95, 110, 111). Almost all participants reported experiencing problems with balance. There is three majors issues identified with loss of balance: risk of falling, limitation with ADLs, and limitation with physical activities. Loss of balance impair gait and increase the risk of falling. These falls can cause injuries and they often need to hold on something or to use a walking to avoid it. Performing ADLs can also be compromised by the loss of balance. They often need to hold on something (ex: wall, counter, grab bar) when doing their everyday activities like cooking, bathing, or doing household chores. Transport objects with liquid in them (ex: glass of water, soup) is challenging for a lot of them. The loss of balance can also impair the ability to do physical activities like team sports and winter activities as some people had to quite doing sports they like because of it. Some participants talk about the social impact of loss of balance as people they encountered think they are intoxicated by alcohol.
Upper limbs. For the upper limbs, the literature suggests difficulties with fine movement, clumsiness, and variable difficulties with dexterity (11, 32, 43, 73, 79, 87, 97, 103). Otherwise, a majority of participants (9/12) reported troubles with manual dexterity. These difficulties are led to major problems in everyday life as they it takes more time and energy to perform simple task (ex: cooking, button, drive) and can be very frustrating. Participants also report trouble writing that can cause difficulties in schooling and for some work-related tasks.
Strength. Even if strength seem normal for affected children, progressive and variable disabilities in strength are seen in ARSACS (11, 38, 52, 87, 112), in addition to muscle atrophy and weakness that affect both upper and lower limbs (4, 10, 11, 31, 33, 35, 38, 39, 41, 42, 45, 47, 50, 54, 55, 57–59, 70, 71, 75, 76, 78, 82, 86, 88, 89, 92, 94, 95, 97, 100, 102–104, 106–116). Data shows that 8/12 participants report muscle weakness, in particular in legs, ankles, and hands. This weakness limits some daily activities like to bent and get up, lift object, cook and perform physical activities. Some people (4/12) also said that muscle weakness increase the risk of falling and the capacity to raise after a fall.
Coordination. Some authors suggests variable difficulties with coordination (11, 35, 42, 54, 72, 73, 117). Half of the participant of the study talks about the impacts of coordination difficulties in terms of limitation in their ADLs and physical activities. The participants report difficulty to do simultaneous tasks, like when, cooking, driving or doing sports.
Bladder and bowel functions. In literature, there is a lot of involvement of the bladder and bowel functions in ARSACS. Authors report urinary urgency (4, 5, 35, 39, 42, 47, 64, 70, 87, 92, 103, 104, 118), urinary incontinence (4, 5, 7, 32, 45, 70, 92, 118), fecal urgency (5, 7, 30, 92) and others bladder and bowel dysfunction like constipation and diarrhea (36, 45, 82, 105, 111). Near half of the participants (5/12) reported difficulty retaining urine or stool and that these difficulties can limit their social activities (ex: long trip, swimming). They mostly talk about urgency (urinary and fecal) that can lead to incontinence.
Sexual functions. As it can be expected, sexual functioning is barely addressed in literature. Only two articles talk about erectile dysfunction (5, 45). At the same time, only two participants (identified as female) talk about their sexual functioning as they note a lack of flexibility that make some sexual positions harder to achieve and pain (post partum).
Dysarthia. A wide range of dysarthria severity (mild to severe) are documented (4, 5, 7, 8, 32, 34, 35, 37–43, 45, 46, 49, 51, 53–57, 59–61, 63, 64, 67–71, 73, 74, 76–79, 81–91, 93, 94, 96, 99, 102–106, 108–111, 114, 117–128). Authors described dysarthria in term of slurred or unclear speech (37, 41, 45, 56, 85, 89), delay in speech production (49), and slow speech (87, 111). Among the participant, 5/12 note difficulty to pronounce words or slow speech. This makes it difficult to them to participate to an animated discussion or to express themselves. They often have to repeat and people they meet tend to realize they have a disease by their distinctive speech.
Eye functions. People with ARSACS can experience nystagmus, impairment in visuomotor coordination, abnormality in eye pursuit, decrease of visual acuity, and other ocular problems (4, 5, 7, 8, 31–37, 39, 41, 42, 44–46, 50, 51, 53–55, 57, 58, 60, 61, 63, 64, 68–71, 73–84, 86–91, 93–100, 103–105, 107, 108, 110, 111, 113, 116, 117, 119–124, 126, 129–134). But the participants in the study mostly do not perceived disturbance in eye functioning. Only two participants noted a decrease of the visual acuity which is not though to be related to ARSACS.
Dysphagia. A variable range of swallowing difficulties are reported in the literature. These difficulties can be related to dysphagia for liquids only (39, 42, 103), for both liquids and solids (4, 66, 127) or unspecified (32, 36, 45, 47, 53, 57, 68, 70, 104, 126). According to Vogel et al. (127) dysphagia is more related to swallowing timing than it is to weakness and it can lead to change in eating and drinking habits. For the participants, 5/12 reported difficulties to swallow liquids, solids, both or their own saliva that can lead to choking. Few patients reported needing assistance during meal- times, or while drinking, however, 4/11 modified their eating and drinking habits to improve their swallowing (e.g., avoiding difficult-to-swallow foods).
Physical activities. For people with ARSACS, there is a progressive loss of mobility that led to difficulty or incapacity to run that began in childhood (33, 34, 40, 68, 73, 87, 96, 111). Thus, it brings difficulties to perform sports, like team sports or gymnastic (49, 58, 71, 87, 96). As it been seen before, people in the study report difficulties to do physical activities in relation to their physical impairment like incoordination and loss of balance. But sometime, they cannot identify the specific physical disability that hinder difficulty to do physical activities, or it is a set of factors that make the cause difficult to identify. Among the participants, 5/12 participants had trouble performing physical activities. Thus, they had to choose activities adapted to their capacities and it is sometime bringing dissatisfaction.
ADLs. Very few studies have explored the impact of physical impairments in relation to functional independence. People with ARSACS aged 40 and over show restriction in their functional independence when compared to reference values and the younger ones. These restrictions are highly variable according to the diversity of clinical pictures seen in ARSACS (11). Also, people who use wheelchair or walking aid shows a lower level of participation (65), the same for people age 50 and older (52). People affected can also present slowness of performing daily activities (56). Like for physical activities, people with ARSACS involved in the study experience several difficulties performing ADLs, which interferes with their functional autonomy (7/12). These difficulties are related to their physical limitations, but they cannot identify specific causes. It seems that the disabilities lead to a progressive loss of independence, who is slow and variable. The extent of the loss of independence begins with a slowness of execution towards more severe difficulties, even incapacities. Among the difficulties, people mention limitations related to household, cooking, and hygiene care. They have to develop a range of coping strategies to deal with everyday life, like the use of technical or human aids.
The second component of the PROMIS conceptual framework is mental health, which include affect, behavior, and cognition. The affect sub-component is poorly documented in the literature and covers anxiety, depression, frustration, and negative psychosocial impact of illness.
Anxiety. Only one study reports the case of two persons affected who experience psychiatric disorder that involve anxiety and other psychiatric symptoms (118). Also, a thesis report that 49% of the 30 participants with ARSACS report emotional distress demonstrated by anxiety (135). In the same way, participants (2/12) of the study note anxiety as they report feeling stressed for everything or being anxious faced with the uncertain nature of the course of the disease.
Depression. Two cases studies talk about the case of a person with ARSACS who suffered from severe depression (56, 118). The same thesis seen before report that 10 to 26% of the participant shows depressif symptomes (135). In the sample, 4/12 participants had noted variable depression-related manifestations, from transient sadness (in particular when thinking about the disease and its evolution) to the observation of more severe symptoms by the interwiewer (ex: cries during the interview, avoid the question).
Frustration. Except for the same case study who report aggressive behavior with other psychiatrics symptoms (118), there is no mention of frustration in the literature. But half of the participants experience frustration’s manifestations in one way or another. The frustration is caused by everyday obstacles encountered (ex: difficulty with employment, difficulty accessing services), the loss of independence, the feeling of loss of control, the need to constantly adapt to new limitations and the constant grieves cause by the progression of disease, not be able to help others, and not be able to do the same things than other peoples of their age. These frustrations can lead to a feeling of sadness, culpability (ex: when getting angry with relatives), and mood swings.
Negative psychosocial impact of illness. One thesis reports an elevate social desirability that can explain the will for people with ARSACS to give a more positive self-image (135). For two participants of the qualitative study, the perceived negative judgment of others can affect their self-image. The relative early onset of the loss of mobility leads to the necessity to use walking aid that can make them feels like they are older or disable.
Behavior: In the PROMIS framework, the only domain of behavior is substance use. There is no information in the literature and in this study that support a highly substance use problematic in ARSACS more than other population.
Cognition: Some studies show difficulties with cognitive functions in ARSACS. Only one study reported no evidence of intellectual involvement (100), and some more show mild intellectual disability, mental retardation, or IQ below average (4, 31, 33, 38, 41, 46, 47, 56, 61, 62, 69, 83, 85, 97, 109–111, 115, 117, 118, 136). Some pathological personality traits can also be encounter, like mental rigidity and a poor degree of openness to experience (135). People in the study do not recon cognitive dysfunction in term of intellectual disability; instead, they do remark difficulties related to cognitive abilities. Some of them have note variable decrease of their memory (ex: forget names, appointments, memories), an increased time required to learn new things, difficulties concentrating (sometime related to a deficit attention disorder) and some difficulties to analyses complex situations. These difficulties are note in the literature as some studies report impaired memory (30, 78, 94), concentration problems (30), learning difficulties (8, 38, 47, 54), and other cognitive dysfunctions (70, 91, 93, 135).
The third component of the PROMIS framework is social health that has two sub-components: social relationships, and social roles and activities.
Social relationships: Only one thesis reports features about social relationships in ARSACS. This study demonstrates that people affected feels less adapted in familial relationships, in correlation with dysfunctional personality traits (nevrosism and dependant personality) (135). In the qualitative study, some participants (2/12) feel like other people do not understand their condition, that can lead to situation like intimidation or isolation. They also experience difficulties with romantic relationships (5/12), as they find it difficult to find and keep a partner.
Social roles: Social roles include capacities and satisfaction related to work, study, and parenthood. For the work sub-domain, a qualitative study shows that people with ARSACS reported difficulties obtaining, and to a larger extent, keeping a job. These difficulties can partly be explained by the progression of the physical limitations and cognitive rigidity (137). They can lead to the need for a physicaly nondemanding job in an adapted workplace (Verhoeven, 2012) or to be unemployed (52). Another study reports that men with ARSACS have poorer social adaptation to work than the general population (135). All of the participants with ARSACS in the qualitative study describe dissatisfaction or limitations to work (pass or present): no longer being able to practice one's job due to limitations, reorientation following the progression of the limitations, difficulty or inability to work the required number of hours, dangerousness (risk of falling), dismissal, orientation difficulty, premature retirement, and difficulties in balancing work, family and ADLs. Participants also have to live with feeling of grief for not being able to work, perception that employers lack openness, perception of bullying in the workplace, frustration, feeling of injustice, and financial impact for not having a job.
Some studies documented presence of difficulty at school that can be relate to intellectual disability (41, 136), mild to moderate learning difficulty (8, 38, 39, 47) or the need of adaptations (73). In the qualitative study, five participants explain that they had experience difficulties at school because of their physical limitations and needed special adaptations (ex: access to a portable computer, more time to do exams). During adulthood schooling, the difficulties are more related to keeping a balance between study, work and ADLs.
Unsurprisingly, there is no literature about parenthood and ARSACS. In the sample, only two participants where parent. They describe some difficulties as they cannot perform all activities they want to do with children and can encounter some barriers (ex: difficulty to lift the baby, risk of failing with the baby).
Social activities. Very few research considered social activities. In term of social participation, it seems that older peoples with ARSACS and those who use a wheelchair or walking aid have a lower level of social participation (10, 11, 65). Also, social adaptation regarding social life and leisures are lower for women with ARSACS (135). In the sample, nine participants experience dissatisfaction and difficulties related to the realization of their social activities. The physical manifestations and trouble manage energy can limit the choice of activities (ex: more sedentary activities, not being able to go to the same places as friends, adapted activities).
Results part 2: comparison between ARSACS and other ARCA
For the discussion groups, group 1 was carried out in June 2019 and lasted approximately 109 minutes, while group 2 was realized in October 2019 and lasted approximately 144 minutes. Peoples in the two groups were affected by one of these ataxias: Ataxia with oculomotor apraxia type 2 (AOA2), Autosomal recessive spinocerebellar ataxia-8 (SCAR8) or Friedreich’s ataxia (FA). Characteristics of groups’ participants can be seen in Table 4.
Table 4
Characteristics of study population for discussion groups (n = 2, 8 participants)
Characteristics | Total group | Total group 1 | Total group 2 |
Age | | | |
Mean | 43.8 | 49 | 40.6 |
Range | 23–59 | 36–58 | 23–59 |
Sex (n) | | | |
Female | 3 | 0 | 3 |
Male | 5 | 3 | 2 |
Diagnosis | | | |
FA | 3 | 0 | 3 |
SCAR8 | 4 | 2 | 2 |
AOA2 | 1 | 1 | 0 |
The aim of the discussion groups was to compare auto-reported manifestations of ARSACS with other types of ARCA qualitatively. In general, manifestations, especially impacts of the disease, are similar. However, foot deformities seem to be more important for other types of ARCA; some participants describe swollen and painful feet, heavy feet, or cold feet. Another dissimilarity between ARSACS and some other types of ARCA concern eye functions. While people with ARSACS describe no particular problem with their vision, those with other type can experiment diplopia that can hinder their daily life such as driving and reading.