The Implication of Huntington Disease on Individuals from Speech, Language and Swallowing Perspectives in Saudi Arabia

Adil Alshammary

Published on: 2019-03-30

Abstract

Huntington's disease (HD) has been described as a genetic disorder that affects speech, language and swallowing aspects. Depending on the level of the disease, individuals with HD may present difficulties in speech, language and swallowing. The purpose of this article is to present these difficulties as well as their baseline treatment plan. It is emphasised that, in speech aspect, there are signs of hyperkinetic dysarthria due to non-controlled choreic movements. In language, individuals with HD create shorter and simpler statements; moreover, they may show difficulties in tasks that require complex cognitive processing. Effective speech-language intervention is fundamental to improve the quality of life of people and contribute to their communicative wellbeing.

Keywords

Speech; Language; Huntington; Swallowing; Saudi Arabia

Introduction

Huntington's chorea or San Vito's disease Bhattacharyya, or Huntington’s disease (HD) can be defined as a “common inherited neurodegenerative disorder which is characterized by cognitive and emotional deficits and uncontrolled excessive motor movements” Chan, Walker, & Robertson, It is occurred due to mutation in the number of repetitions of the CAG nucleotide sequence (cytosine-adenine-guanine) [1-3]. The average survival of the person with HD varies between 15 and 20 years. Huntington disease can be considered as “neurodegenerative disorder” which has influences on many aspects of life, such as its motor and cognitive aspects van Duijn, Kingma, & van der Mast is usually characterized with a distinguishing feature, which is choreic movements [4]. The choreic movements occur due to loss of control on muscle movements in different areas, such as face, neck and oral cavity [5]. The muscle involved in swallowing and communication can be affect by it. Few studies about Huntington disease have reported about existence of the disorder among Arab families in Middle Eastern countries, especially Saudi Arabia. However, this may be because many cases may have not been recorded in Saudi Arabia. The prevalence of HD in Saudi Arabia is still vague; however, first-hand reports have claimed that the prevalence of HD in Middle Eastern Arabian countries varies between3 to 4 cases per 100,000 Scrimgeour [6]. HD is a unique neurodegenerative disease which has three levels; in the first or initial level, an individual with HD presents with small changes in the coordination of involuntary movements; moreover, difficulty in solving problems Meza-Escobar, Orozco, Takeuchi, Ariza, & Pachajoa, depressed mood and impulsivity behaviours may also be expected at this level van, [7,8]. In the second or intermediate level, an individual with HD presents with moderate choreic movements, with variable speech and swallowing deficits. Also, the cognition aspect is gradually diminished with the appearance of disorientation and short-term memory loss Ho & Hocaoglu, [9]. In the third or late level, an individual with HD shows severe choreic movements accompanied with muscular rigidity and swallowing problems. Weight loss, walking ability and talk ability are affected at this level, which may transform the individual into a dependent individual [10].

Impacts on Speech Perspective

As mentioned in the introduction, HD has influences on muscle movement. The speech mechanism involves many muscles to be performed. Individuals with HD usually present with speech difficulties, such as hyperkinetic dysarthria Hamilton et al., [11]. In other words, HD has influence on respiration, phonation, articulation, resonance and prosody. This means the verbal communication begins to reduce at the beginning and May, in some cases, lead to mutism at the third level Kaploun, Saxman, Wasserman, & Marder, Individuals with HD usually show greater effort during breathing [12,13]. Moreover, breathing difficulties may appear unpredictably accompanied by sudden inspiration or forced expiration during connected speech. This may affect other aspects involved in the speech mechanism. The voice aspect may be affected in individuals with HD. Individuals with HD may showed perceived tense Hamilton harsh Vogel, Shirbin, Churchyard, & Stout, choppy or hoarse, vocalization, with irregular tone fluctuations [14]. These changes occur due to the involuntary contractions of the vocal folds. Phonation time reduction is also expected in HD cases due to insufficiency of airflow Kaploun et al. Moreover, the resonance aspect can be affected, although this depends on the affected muscles; hypernasality due to defects in soft palate muscles is a clear example of resonance defects in HD cases. HD also has influence on articulation aspects; individuals with HD usually show distortion in the sound production at vowel and consonant level [15]. Moreover, inappropriate pauses within words, sound prolongation and a slow speech are common features in HD cases [16].

Impacts On Language Perspective

HD impacts can be extended to language perspective at comprehension and expression level. At language comprehension level, individuals with HD may present with difficulties in passive voice sentences, Saldert, Fors, Ströberg, & Hartelius; moreover, lexical-semantic manipulation problems may appear in individuals with HD [17,18]. Individuals with HD may show difficulties in the executive functions of attention, short-term memory and inability in planning activities [19]. At expressive language level, individuals with HD may present with reduction in sentence length; moreover, the sentence structure in individuals with HD tends to be simple with syntactic errors [20]. Grammatical errors such as the omission of verbs and articles are also expected in individuals with HD [21].

Impacts on Swallowing Perspective (Dysphagia)

The impacts of HD on the swallowing perspective can be seen from the first level of HD during which little and irrelevant swallowing difficulties are notable. In the second level, the swallowing difficulties become more notable in an individual with HD. At the third level, the swallowing difficulties contribute significantly to the health state of the person. There are many disorders with the swallowing mechanism that affect individuals with HD and these impacts may appear in different phases of the swallowing mechanism. Thus, in HD cases, it is possible to find a wide range of characteristic signs of the different types of dysphagia, which can sometimes occur in an isolated manner. For instance: At oral phases of swallowing, an individual with HD may present with weakness in the labial area, tongue instability, difficulties in bolus manipulation. At laryngeal phases of swallowing, an individual with HD may present delay in laryngeal elevation and epiglottic cartilage [22]. At oesophageal phases of swallowing, an individual with HD may present with abnormally viscous bolus transit and oesophageal inflammation associated with gastroesophageal reflux. Swallowing problems are can be considered as the most affecting disorder on lives of people with HD. Some studies have claimed that 86% of individuals with HD die due to aspiration pneumonia [23].

Treatment Plan

Speech, language and swallowing disorders are usually diagnosed and evaluated by the Speech-Language Pathologist. The evaluation and treatment seek to contribute the communicative wellbeing and improve the quality of life. In general, treatment of speech and language disorders is a complex process in all neurodegenerative diseases, including HD. The complexity of treatment usually lies in coordinated interdisciplinary work with different health professionals who work on an appropriate treatment plan based on common goals [24]. At the speech perspective, the intervention programme usually involves respiratory retraining to increase the breathing efficiency during speech Zinzi et al., which will improve voice aspects. In the same way, orofacial musculature retraining may preserve mobility in both speech and swallowing aspects as well as facial expression [25]. HD affects individuals in different ways and each individual is a unique case in terms of treatment Hamilton et al. However, the treatment of speech and communication in HD disorder can be summarised into three simple levels:

1^st level: breathing exercises and muscle relaxation.

2^nd level: family counselling or caregivers counselling regarding adjustments of communication in daily life activities.

3^rd level: implementation of AAC strategies and systems to increase communicative effectiveness Ferm, Sahlin, Sundin, & Hartelius, and increase in the individual’s participation in social activities [26]. From the swallowing perspective, individuals with HD usually follow essential strategies prescribed by a speech therapist in order to facilitate and guarantee effective safe swallowing. There are several approaches and techniques that help individuals with HD in their swallowing status, including:

Compensatory Manoeuvres approach: this approach usually involved re-education of swallowing and modification of eating behaviours. For example, placing solid foods on molars to ensure that they are crushed well without remaining residuals that could exacerbate difficulties deglutition.

Food Consistency Modifications approach: this approach is a fundamental approach as there is a close relationship between food viscosity and aspiration probability [27].

Sensory Stimulation approach: this approach usually uses cold and acidic substances in order to stimulate swallowing in oral phases (improves the onset) and pharyngeal (reduces the delay). Also, this approach helps in decreasing involuntary oropharyngeal movements and the frequency of aspiration of the food bolus [28]. Postural Compensatory approach: this approach aims to minimise involuntary movements and increase safety food intake Kagel & Leopold, through the proper position of the extremities, such as neck and chin. Chin Tuck manoeuvre is an example of this approach [29,30].

Conclusion

Huntington’s disease is a neurodegenerative disorder that directly affects speech and language mechanisms in individuals who present it. These implications may include breathing difficulties, voice disorders, articulation disorders, resonance disorders, fluency disorders and difficulties in receptive and expressive language. The implications of HD can be extended to the swallowing aspects of individuals. Thus, detection of these difficulties is basically based on a speech therapist. They participate in improving the quality of life and the communicative wellbeing of individuals with HD. In Saudi Arabia, there are very few Speech Language Pathologists; moreover, the majority of SLPs are located in the three major cities (Riyadh, Jeddah and Eastern region). HD cases may not receive a minimal care/ diagnosis or treatment plan regarding speech, language and swallowing aspects. As mentioned before, this article has sought to indicate the difficulties and implications that face individuals with HD in general. Reports and studies about HD in Saudi Arabia are very limited, thus, this article may be considered as the first article that talks about the implications of Huntington’s disease on speech, language and swallowing in Saudi Arabia. Future research and studies may be helpful for other interests in enhancing scientific research regarding HD in Saudi Arabia.

Funding Acknowledgements

Financial support was provided by King Saud Medical City (KSMC), Riyadh, Saudi Arabia.

Journal of Economic and Business Studies