1. Speech and Swallowing Issues in Wilson Disease Kristin Larsen, MA CCC-SLP Communication Sciences and Disorders Northwestern University Kristin Larsen, MA CCC-SLP Communication Sciences and Disorders Northwestern University

2. Speech Problems in Wilson Disease  Common sign of neurological involvement  Dysarthria: refers to speech disorders of a neurological origin resulting from disturbances in muscular control of the speech mechanism  May be hypokinetic, spastic, ataxic--usually a combination  Common sign of neurological involvement  Dysarthria: refers to speech disorders of a neurological origin resulting from disturbances in muscular control of the speech mechanism  May be hypokinetic, spastic, ataxic--usually a combination

3. Hypokinetic Dysarthria  Caused by damage to the basal ganglia control circuit  Most frequently found in Parkinson’s Disease or other related CNS degenerative disorders  Hypokinetic refers to decreased mobility or range of motion--decreased “amplitude” of speech  Caused by damage to the basal ganglia control circuit  Most frequently found in Parkinson’s Disease or other related CNS degenerative disorders  Hypokinetic refers to decreased mobility or range of motion--decreased “amplitude” of speech

4. Hypokinetic Dysarthria Characteristics  Reduced loudness  Monopitch  Monoloudness  Imprecise consonant articulation  Fast speech rate  Reduced loudness  Monopitch  Monoloudness  Imprecise consonant articulation  Fast speech rate  Short rushes of speech  Lower pitch  Palilalia  Breathy voice quality

5. Hypokinetic Dysarthria-patient perceptions  People can’t hear me  People don’t understand me  I can’t communicate well in large groups or in public places  My spouse/parent needs a hearing aid!  People can’t hear me  People don’t understand me  I can’t communicate well in large groups or in public places  My spouse/parent needs a hearing aid!

6. Hypokinetic Dysarthria Treatment  Generally focuses on increasing loudness/effort, reducing speech rate and improving articulation  Key focus: “Think loud, Be loud”  LSVT: Speech/voice treatment program developed for Parkinson’s disease, but has proven useful in related diseases  Generally focuses on increasing loudness/effort, reducing speech rate and improving articulation  Key focus: “Think loud, Be loud”  LSVT: Speech/voice treatment program developed for Parkinson’s disease, but has proven useful in related diseases

7. Spastic Dysarthria  Caused by damage to direct and indirect activation pathways of the CNS-bilaterally  Found in vascular disorders, inflammatory diseases and degenerative disorders  Spastic refers to excessive muscle tone  Caused by damage to direct and indirect activation pathways of the CNS-bilaterally  Found in vascular disorders, inflammatory diseases and degenerative disorders  Spastic refers to excessive muscle tone

8. Spastic Dysarthria Characteristics  Strained-strangled voice quality  Harshness  Slow rate  Imprecise consonant articulation  Distorted vowels  Strained-strangled voice quality  Harshness  Slow rate  Imprecise consonant articulation  Distorted vowels  Hypernasality  Short Phrases  Pitch breaks  Excess and equal stress  Monopitch  Monoloudness

9. Spastic Dysarthria-patient perceptions  It takes more effort to speak  I speak so slowly  I get tired quickly from talking  My speech sounds nasal  Difficulty controlling emotional expression  Often complains of difficulty chewing or swallowing as well  It takes more effort to speak  I speak so slowly  I get tired quickly from talking  My speech sounds nasal  Difficulty controlling emotional expression  Often complains of difficulty chewing or swallowing as well

10. Spastic Dysarthria-Treatment  Reduce muscle tone  Relaxation techniques  Easy onset of phonation  Gentle stretching/range of motion exercises- not to the point of fatigue  Reduce muscle tone  Relaxation techniques  Easy onset of phonation  Gentle stretching/range of motion exercises- not to the point of fatigue

11. Ataxic Dysarthria  Caused by damage to the cerebellar control circuit  Found in degenerative diseases, vascular disorders, neoplastic disorders, toxic- metabolic conditions and trauma  Characterized by reduced coordination of speech  Caused by damage to the cerebellar control circuit  Found in degenerative diseases, vascular disorders, neoplastic disorders, toxic- metabolic conditions and trauma  Characterized by reduced coordination of speech

12. Ataxic Dysarthria Characteristics  Irregular articulatory breakdown  Vowel distortions  Prolonged sounds  Slow rate  Monopitch/monoloudness  Excess and equal stress  Irregular articulatory breakdown  Vowel distortions  Prolonged sounds  Slow rate  Monopitch/monoloudness  Excess and equal stress

13. Ataxic Dysarthria-patient perceptions  Slurred speech  “Drunken” sounding speech  Stumbling over words  Reduced coordination with chewing  Slurred speech  “Drunken” sounding speech  Stumbling over words  Reduced coordination with chewing

14. Ataxic Dysarthria Treatment  Focuses on modifying rate and prosody  Slow down!  Pitch control  Focuses on modifying rate and prosody  Slow down!  Pitch control

15. Speech Therapy  Diagnosis of speech problem: will determine treatment plan  Treatment: will focus on compensation, augmentation or exercise program as appropriate  Compensations must be practiced frequently to be habituated  Diagnosis of speech problem: will determine treatment plan  Treatment: will focus on compensation, augmentation or exercise program as appropriate  Compensations must be practiced frequently to be habituated

16. General Communication Strategies for Dysarthria  Slow down  Take a breath before you start talking  Pause for a new breath as needed  Exaggerate your speech  Control your environment--avoid competing noise when possible  Slow down  Take a breath before you start talking  Pause for a new breath as needed  Exaggerate your speech  Control your environment--avoid competing noise when possible

17. General Communication Strategies for Dysarthria  Set the context: what is the main idea?  Modify the length of the utterance  Monitor listener comprehension  Use letter/word/picture board or gestures to supplement verbal communication  Set the context: what is the main idea?  Modify the length of the utterance  Monitor listener comprehension  Use letter/word/picture board or gestures to supplement verbal communication

18. Strategies for the Listener  Modify the environment-reduce excess noise/distractions, maintain adequate lighting  Maintain eye contact  Repeat or clarify the message--let the speaker know what parts you understood  Ask focused questions to clarify message  Modify the environment-reduce excess noise/distractions, maintain adequate lighting  Maintain eye contact  Repeat or clarify the message--let the speaker know what parts you understood  Ask focused questions to clarify message

19. More Strategies for the Listener  Establish how and when to provide feedback  Encourage use of appropriate strategies  Model appropriate strategies  Encourage use of augmentative communication as needed  Establish how and when to provide feedback  Encourage use of appropriate strategies  Model appropriate strategies  Encourage use of augmentative communication as needed

20. Augmentation-when useful speech is limited:low tech  Writing  Letter/picture board  Personalized communication book  Develop consistent yes/no response  Use gestures  Writing  Letter/picture board  Personalized communication book  Develop consistent yes/no response  Use gestures

21. Augmentation-when useful speech is limited: high tech  Alternative and augmentative communication (AAC) devices  Computer systems: variable expense, level of difficulty  Speech software for existing computers  Smart phone applications  Alternative and augmentative communication (AAC) devices  Computer systems: variable expense, level of difficulty  Speech software for existing computers  Smart phone applications

22. AAC Device Considerations  Input or access features: how to select letters/words/pictures--direct or scanning.  Output features: voice or readable  Portability  Cost/funding and insurance coverage  Training or learning curve: how easy is it to operate?  Input or access features: how to select letters/words/pictures--direct or scanning.  Output features: voice or readable  Portability  Cost/funding and insurance coverage  Training or learning curve: how easy is it to operate?

23. Dysphagia  Difficulty with any phase of swallowing  May result in aspiration:food or liquid entering the airway-can lead to pneumonia  May result in inefficiency-can lead to longer mealtimes, weight loss, malnutrition  Difficulty with any phase of swallowing  May result in aspiration:food or liquid entering the airway-can lead to pneumonia  May result in inefficiency-can lead to longer mealtimes, weight loss, malnutrition

24. Dysphagia in Wilson Disease  Swallowing difficulty is a common complaint with neurologic manifestation of Wilson Disease  Can vary from mild to severe  May or may not be accompanied by difficulty with secretion management/drooling  Swallowing difficulty is a common complaint with neurologic manifestation of Wilson Disease  Can vary from mild to severe  May or may not be accompanied by difficulty with secretion management/drooling

25. Dysphagia in Wilson Disease  Can involve any stage of swallowing: oral prep/chewing, oral transit, or pharyngeal  Involvement of the basal ganglia can impair the coordination of chewing and swallowing  Dystonia affecting head or neck muscles can affect ability to swallow safely  Pseudobulbar palsy-weakness in lips, tongue or throat muscles can reduced efficiency and lead to aspiration  Can involve any stage of swallowing: oral prep/chewing, oral transit, or pharyngeal  Involvement of the basal ganglia can impair the coordination of chewing and swallowing  Dystonia affecting head or neck muscles can affect ability to swallow safely  Pseudobulbar palsy-weakness in lips, tongue or throat muscles can reduced efficiency and lead to aspiration

26. Role of SLP in Dysphagia Management  Assessment: clinical, endoscopic or videofluoroscopic  Develop appropriate treatment plan: compensations (postures, maneuvers), diet modifications  Monitor progression of swallowing problems  Monitor need for possible non-oral nutrition  Assessment: clinical, endoscopic or videofluoroscopic  Develop appropriate treatment plan: compensations (postures, maneuvers), diet modifications  Monitor progression of swallowing problems  Monitor need for possible non-oral nutrition

27. Early Signs of Dysphagia  Longer mealtimes  Coughing with liquids  Difficulty with chewier foods  Difficulty with mixed consistencies (cereal in milk, chunky soups)  Feeling food or pills sticking in throat  Coughing during or after meals  Longer mealtimes  Coughing with liquids  Difficulty with chewier foods  Difficulty with mixed consistencies (cereal in milk, chunky soups)  Feeling food or pills sticking in throat  Coughing during or after meals

28. Signs of Advanced Dysphagia  Aspiration  Decrease in caloric intake (weight loss, malnutrition)  Decrease in fluid intake (dehydration)  Fatigue or excessive inefficiency with mealtimes--unable to meet nutritional needs  Aspiration  Decrease in caloric intake (weight loss, malnutrition)  Decrease in fluid intake (dehydration)  Fatigue or excessive inefficiency with mealtimes--unable to meet nutritional needs

29. Swallowing Guidelines: Posture  Sit as upright as possible  Keep head in a neutral or slightly chin down position if indicated/possible  Stay sitting upright for 30 minutes after meals to allow time for all the food to go down (if any food remaining in mouth or throat  Sit as upright as possible  Keep head in a neutral or slightly chin down position if indicated/possible  Stay sitting upright for 30 minutes after meals to allow time for all the food to go down (if any food remaining in mouth or throat

30. General Swallowing Guidelines  Eat and drink slowly-allow plenty of time for meals  Chew thoroughly  Focus on the task of eating-eliminate distractions like TV  Don’t talk with food or liquid in your mouth  Swallow everything in your mouth before taking a new bite/sip  Eat and drink slowly-allow plenty of time for meals  Chew thoroughly  Focus on the task of eating-eliminate distractions like TV  Don’t talk with food or liquid in your mouth  Swallow everything in your mouth before taking a new bite/sip

31. Diet Modification Guidelines  Caution with mixed consistencies  May need to choose softer foods  May need to thicken liquids  Smaller, more frequent meals if fatigued  Nutritional supplements--drinks or puddings (try to avoid ones with added copper)  Caution with mixed consistencies  May need to choose softer foods  May need to thicken liquids  Smaller, more frequent meals if fatigued  Nutritional supplements--drinks or puddings (try to avoid ones with added copper)

32. Non-oral Nutrition  If aspiration, malnutrition, dehydration or inefficiency become a problem…  Surgical placement of a gastrostomy or jejeunostomy tube for nutrition  Highly personal decision, quality of life considerations  May still be able to take some foods/liquids by mouth  If aspiration, malnutrition, dehydration or inefficiency become a problem…  Surgical placement of a gastrostomy or jejeunostomy tube for nutrition  Highly personal decision, quality of life considerations  May still be able to take some foods/liquids by mouth

33. Drooling/Saliva Management  Medications  Botox  Radiation to salivary glands  Maintain adequate hydration  Use suctioning as needed  Secretions management techniques  Medications  Botox  Radiation to salivary glands  Maintain adequate hydration  Use suctioning as needed  Secretions management techniques

34. Secretion Management Techniques  SWALLOW! Remind yourself to “slurp and swallow” throughout the day--especially before you speak  If able, try to sip water frequently  If able, chewing gum or sucking on a hard candy can increase swallow frequency  SWALLOW! Remind yourself to “slurp and swallow” throughout the day--especially before you speak  If able, try to sip water frequently  If able, chewing gum or sucking on a hard candy can increase swallow frequency