**2. Communication issues in ALS patients**

Five functional domains have to be taken into account when communication is concerned: a) motivation to interact; b) cognitive skills (particularly - but not exclusively - those related to language); c) visual and auditory capacities; d) ability to utter sounds and words; and e) writing skills. As a matter of fact, affective disorders, anxiety and emotional discomfort, as well as cognitive impairment or sensory deficits, can compromise communication processes, by interfering directly and/or indirectly with speech and writing performances.

However, ALS does not usually either affect a person's ability to see, smell, taste, hear, or recognize touch; nor impair mind or intelligence - although a small percentage of patients may experience problems with memory or decision-making (Raaphorst et al., 2010; Ringholz et al., 2005), and there is growing evidence that some may even develop a form of dementia (Guedj et al., 2007). On the other hand, since the disease usually does not affect cognitive abilities, PALS are aware of their progressive loss of function and may become anxious and depressed (Patten et al., 2007).

The vast majority of PALS experience a motor speech disorder as the disease progresses: since ALS involves both UMNs and LMNs, it results in *mixed dysarthria* of the *flaccid-spastic* type characterized by effortful, slow productions with short phrases, inappropriate pauses, imprecise consonants, hypernasality, strain-strangled voice, as well as decreased pitch and loudness range (Duffy, 1995; Tomik & Guiloff, 2010).

In the early stages when dysarthria is mild, either spasticity or flaccidity is predominant: initial symptoms typically do not interfere with speech intelligibility and may be limited to a reduction in speaking rate, a change in phonatory quality, or imprecise articulation (Ball et al., 2004a; Nishio & Niimi, 2000; Yorkston et al., 1993; Yunusova et al., 2010).

Features of *spasmodic dysphonia* (or *focal laryngeal dystonia*) may also occur in PALS, sometimes as the initial clinical symptom (Roth et al., 1996). Typically, laryngeal structure is normal in appearance. When *corticobulbar* involvement prevails (*spastic* forms), there is often a pattern of hyperadduction of the vocal mechanism, and when *bulbar* involvement dominates (*flaccid* forms), there is usually a pattern of hypoadduction.

As disease progresses and dysarthria becomes severe, profound weakness resulting in reduced movement of the speech musculature and severe hypophonia become increasingly common (Yunusova et al., 2010).

Perceptual and acoustic features of dysarthria in ALS have been well studied (Tomik & Guiloff, 2010): the decrease in rate is often associated with increased pause time and enhanced segment durations, particularly for vowel sounds (Green et al., 2004; Tjaden & Turner, 2000; Turner & Weismer, 1993); spectral vowel and consonant properties (e.g., formant frequencies, transition extents and slopes) are also affected, with vowels becoming more centralized and the consonant frequency spectrum less distinct (Kent et al., 1989, 1992; Tjaden & Turner, 1997; Turner et al., 1995; Weismer et al., 1988, 1992, 2001).

Such acoustic findings have been presumed to be due to the disease-related reduction and slowing of articulatory movements (Weismer et al., 1992). Articulatory findings, although

The gag reflex is preserved and often brisk, whereas the soft palate may be weak; patients show wasting and fasciculations of the tongue which moves slowly, also due to muscle hypertonia. The other cranial nerves remain intact, although in late stages of the disease patients may very rarely develop a supranuclear gaze palsy or oculomotor palsy (Kobayashi

Five functional domains have to be taken into account when communication is concerned: a) motivation to interact; b) cognitive skills (particularly - but not exclusively - those related to language); c) visual and auditory capacities; d) ability to utter sounds and words; and e) writing skills. As a matter of fact, affective disorders, anxiety and emotional discomfort, as well as cognitive impairment or sensory deficits, can compromise communication processes,

However, ALS does not usually either affect a person's ability to see, smell, taste, hear, or recognize touch; nor impair mind or intelligence - although a small percentage of patients may experience problems with memory or decision-making (Raaphorst et al., 2010; Ringholz et al., 2005), and there is growing evidence that some may even develop a form of dementia (Guedj et al., 2007). On the other hand, since the disease usually does not affect cognitive abilities, PALS are aware of their progressive loss of function and may become anxious and

The vast majority of PALS experience a motor speech disorder as the disease progresses: since ALS involves both UMNs and LMNs, it results in *mixed dysarthria* of the *flaccid-spastic* type characterized by effortful, slow productions with short phrases, inappropriate pauses, imprecise consonants, hypernasality, strain-strangled voice, as well as decreased pitch and

In the early stages when dysarthria is mild, either spasticity or flaccidity is predominant: initial symptoms typically do not interfere with speech intelligibility and may be limited to a reduction in speaking rate, a change in phonatory quality, or imprecise articulation (Ball et

Features of *spasmodic dysphonia* (or *focal laryngeal dystonia*) may also occur in PALS, sometimes as the initial clinical symptom (Roth et al., 1996). Typically, laryngeal structure is normal in appearance. When *corticobulbar* involvement prevails (*spastic* forms), there is often a pattern of hyperadduction of the vocal mechanism, and when *bulbar* involvement

As disease progresses and dysarthria becomes severe, profound weakness resulting in reduced movement of the speech musculature and severe hypophonia become increasingly

Perceptual and acoustic features of dysarthria in ALS have been well studied (Tomik & Guiloff, 2010): the decrease in rate is often associated with increased pause time and enhanced segment durations, particularly for vowel sounds (Green et al., 2004; Tjaden & Turner, 2000; Turner & Weismer, 1993); spectral vowel and consonant properties (e.g., formant frequencies, transition extents and slopes) are also affected, with vowels becoming more centralized and the consonant frequency spectrum less distinct (Kent et al., 1989, 1992;

Such acoustic findings have been presumed to be due to the disease-related reduction and slowing of articulatory movements (Weismer et al., 1992). Articulatory findings, although

al., 2004a; Nishio & Niimi, 2000; Yorkston et al., 1993; Yunusova et al., 2010).

dominates (*flaccid* forms), there is usually a pattern of hypoadduction.

Tjaden & Turner, 1997; Turner et al., 1995; Weismer et al., 1988, 1992, 2001).

by interfering directly and/or indirectly with speech and writing performances.

et al., 1999; Okuda et al., 1992).

depressed (Patten et al., 2007).

common (Yunusova et al., 2010).

**2. Communication issues in ALS patients** 

loudness range (Duffy, 1995; Tomik & Guiloff, 2010).

limited, support such an interpretation. An early study on articulatory kinematics in two PALS showed slowed articulatory movements, reduced displacement of the tongue and lip, together with exaggerated displacements of the jaw during diadokokinetic tasks (Hirose et al., 1982). A more recent study of articulatory movements in a group of 9 PALS reported an impairment of articulatory speed during vowels (Yunusova et al., 2008): aberrant displacements were found to be word- and vowel-dependent and were more consistently present in movements of the tongue than in those of other articulators, and occasionally in the jaw; the jaw displacements were smaller than normal in words requiring larger articulator movements (e.g., consonant plus low vowel), but were larger than normal in words that only required relatively small jaw movements (e.g., consonant plus high vowel), suggesting difficulty in scaling of the vowel-related movements.

Whereas initially, along a gradual slowing of *speaking rate*, *speech intelligibility* remains relatively high, it decreases overtime, when dysarthria becomes more and more apparent to PALS themselves and their listeners. Yorkston and co-workers (1993) suggested that speech intelligibility may vary across dysarthric patients depending on the subsystems that are preserved (e.g., relatively less impaired respiratory-phonatory subsystem and the jaw might be associated with better speech intelligibility); the rate of disease progression; and the patient's cognitive status.

Because a person's ability to communicate orally is typically assessed based on speech intelligibility, anticipating the decline in intelligibility in a sensitive way is critical for timely clinical management of bulbar PALS. In this regard, longitudinal studies are, indeed, necessary when the goal of research is to identify early predictors of future changes; additionally, longitudinal studies are advantageous when dealing with heterogeneous populations, as in the case of PALS, since each patient can serve as his own control. Investigations of such a type documented the decline in speech intelligibility and speaking rate (Kent et al., 1992; Mulligan et al, 1994; Nishio & Niimi, 2000; Yorkston et al., 1993); and some studies have also identified several acoustic-based speech markers of disease progression (Mulligan et al., 1994; Ramig et al., 1990).

In their retrospective study of more than a hundred clinical cases, Yorkston and co-workers (1993) reported that speaking rate was a reliable predictor of speech intelligibility decline, by observing a rapid deterioration in speech intelligibility shortly after a decline in speaking rate to 100-120 words per minute. Such a finding was replicated by Ball and co-workers (2002) in a large group of patients with bulbar symptoms of different severity: the authors suggested that speaking rate decline to 100-120 words per minute should serve as a clinical indicator for beginning to support communication by assistive technology.

Moreover, since ALS progresses so rapidly in many subjects, an important goal of clinical management is to anticipate functional changes in patients' performance in order to teach new communication strategies and compensatory skills before the patient's ability to learn these skills is impacted by the severity of their condition. Recently, Yunusova and coworkers (2010) in a longitudinal study on 3 PALS tested the feasibility of using kinematic measures as early predictors of intelligibility decline, trying to understand the relationship between physiologic changes in speech movements and clinical measures of speech performance (such as speaking rate and speech intelligibility). Lip and jaw movements were quantified with respect to their size, speed, and duration.

Results showed that, differently from oral strength measures, changes in lip and jaw movements were related to ALS progression: in two out of 3 PALS, the changes in measures

Communication Impairment in ALS Patients Assessment and Treatment 669

quantifying single-word intelligibility, sentence intelligibility, and speaking rate of adult and adolescent speakers with dysarthria. Standard protocols containing speaker tasks, recording techniques, and listener response formats are employed to obtain a variety of

Yorkston and co-workers (1993) initially suggested that PALS speaking rate reduction precedes decreases in intelligibility; Ball and co-workers (2001, 2002) reported that speaking rate on the *Speech Intelligibility Test* - *Sentence Subtest* (Yorkston et al., 2007) is a relatively good predictor of PALS intelligibility deterioration. This computerized test supports the efficient measurement of speaking rate in clinical settings; it helps patients and their families monitor changes over time, and reinforces their understanding of speaking rate and intelligibility. Using this test, speaking rate can also be accurately monitored over the telephone if a patient lives at a distance, or is unable to travel (Ball et al., 2005a): it should be noted, anyway, that speech intelligibility could not be objectively assessed over the telephone, as a clinical measure of understandability. The *vocal impairment* can be difficult to assess because the voice disorder in dysarthria often occurs along with other impairments affecting articulation, resonance, and respiration: an effective assessment tool is the *Multi-Dimensional Voice Program*, a multi-parameter acoustic

Differently from an acute, self-limited disease with expected recovery, the choice of appropriate therapeutic options for PALS raises more difficult concerns, since one must take into account many personal and ethical considerations. Several decisions by PALS and their families regarding treatment hinge on their concept of the quality of life that will result from

At the present time, ALS therapy can be organized under the following multiple modalities: a **pathogenetic treatment** – to counteract MN degeneration; and a **symptomatic treatment** – to reduce impairments in motor abilities including those involved in communication. The appropriate implementation of each one of these types of therapy reflects the difficulties that we now have to face in ALS treatment. Supportive care is best provided by multidisciplinary teams of health care professionals, such as physicians; physical, occupational, and speech therapists; nutritionists; social workers; and home care and hospice nurses (Bede et al., 2011): working with patients and caregivers, these teams can design an individualized plan of medical and physical therapy and provide special

Taking now into account such *a symptomatic approach*, two kinds of therapeutic strategies have to be implemented, those using drugs and those employing assistive/rehabilitative

Physicians can prescribe medications to ameliorate fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm; drugs also are available to help patients with pain, depression, anxiety, and sleep disturbances (Bede et al., 2011; Gordon, 2011;

It is almost obvious that a patient experiencing less fatigue, pain, anxiety and depression, and controlling better saliva and spasticity, also apart from specific speech and writing

equipment aimed at keeping patients as "functional" as possible.

Guidubaldi et al., 2011; Guy et al., 2011; Miller et al., 1999; 2009a,b).

methods and techniques, aids and devices.

**4.1 Pharmacological strategies** 

intelligibility and communication efficiency measures.

analysis (Kent et al., 2003).

**4. Treatment** 

such treatments.

of path distance and speed anticipated the drop in speech intelligibility by approximately 3 months, whereas speaking rate decline was more gradual; and increases in movement duration overtime closely mimicked the pattern of speech intelligibility decline. Overall, the kinematic measures seemed to be sensitive to disease progression: they might therefore be useful clinical markers for initiation of compensatory interventions.

Parallelly to decline in speech intelligibility, *communication effectiveness* is reduced at first in adverse speaking situations, such as noisy crowds, and then in all situations. Ball and coworkers (2004b) reported that perceptions of communication effectiveness for PALS were quite similar to those of their frequent listeners (spouse or family member) across 10 different social situations: a range of communication effectiveness was reported depending upon the adversity of specific social situations.

Significant dysarthria can lead to frustration on the part of the patient when others are unwilling to spend the time to carefully listen. Friends and healthcare workers may not listen to the patient; there is a temptation to anticipate answers and finish sentences for the patient.

Fatally, at some point in their disease progression, 80 to 95% of PALS are unable to meet their daily communication needs using their natural speech, and finally most become unable to speak at all.

Moreover, upper limb paralysis prevents them from using hands in writing (directly or through computer-linked keyboards or communication devices).

Ultimately, in the so-called "locked-in" cases, a diffuse somatic immobility takes them away any possibility to interact with the world, except by using eye movements - even more unfortunately lost in those PALS classified as having a "super locked-in" syndrome, who may rely only upon their brain electrical waves as a communication tool processed through complex *brain-computer interface* (*BCI*) devices.

### **3. Functional assessment**

Many assessments have been proposed for patient's follow-up in order to analyze the state of motor function and their consequences on activities of everyday life (Couratier et al., 2006). Clinimetric scales must be validated and relatively simple to use, and generate ordinate results allowing statistical analysis: global scales - *Norris Scale* (Norris et al., 1974), *Appel ALS Rating Scale* (Appel et al., 1987), *ALS Severity Scale* (Hillel et al., 1989), and *ALS Functional Rating Scale* (*ALSFRS*) (Cedarbaum & Stambler, 1997) - can be employed to evaluate disability progression.

By using, for instance, ALSFRS - or its revised version, ALSFRSR (Cedarbaum et al., 1999) - , communication impairment can be assessed through scores on speech function together with those related to handwriting, since people communicate by speaking and/or writing: scores < 2 in both speech and handwriting items correspond to a substantial inability to communicate.

Dysarthric speech can be evaluated through the *Frenchay Dysarthria Assessment* (Enderby & Palmer, 2008) originally developed by Pamela Enderby in 1983, which represents a wellestablished clinical tool to quantitatively evaluate the organs involved in speech and provides a measurement of intelligibility.

Complete kit includes examiner's manual, 25 rating forms, and intelligibility cards: patient is rated on a number of simple performance tasks related to speech function.

Intelligibility can be measured also through another test developed by Yorkston and coworkers: the *Assessment of Intelligibility of Dysarthric Speech* (Yorkston et al., 1984), a tool for quantifying single-word intelligibility, sentence intelligibility, and speaking rate of adult and adolescent speakers with dysarthria. Standard protocols containing speaker tasks, recording techniques, and listener response formats are employed to obtain a variety of intelligibility and communication efficiency measures.

Yorkston and co-workers (1993) initially suggested that PALS speaking rate reduction precedes decreases in intelligibility; Ball and co-workers (2001, 2002) reported that speaking rate on the *Speech Intelligibility Test* - *Sentence Subtest* (Yorkston et al., 2007) is a relatively good predictor of PALS intelligibility deterioration. This computerized test supports the efficient measurement of speaking rate in clinical settings; it helps patients and their families monitor changes over time, and reinforces their understanding of speaking rate and intelligibility. Using this test, speaking rate can also be accurately monitored over the telephone if a patient lives at a distance, or is unable to travel (Ball et al., 2005a): it should be noted, anyway, that speech intelligibility could not be objectively assessed over the telephone, as a clinical measure of understandability.

The *vocal impairment* can be difficult to assess because the voice disorder in dysarthria often occurs along with other impairments affecting articulation, resonance, and respiration: an effective assessment tool is the *Multi-Dimensional Voice Program*, a multi-parameter acoustic analysis (Kent et al., 2003).
