Communication and Swallowing in Rett Syndrome: An Update for Clinicians
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1 Communication and Swallowing in Rett Syndrome: An Update for Clinicians Theresa E. Bartolotta, PhD, CCC-SLP Patricia A. Remshifski, PhD, CCC-SLP Seton Hall University, South Orange, NJ
2 Disclosure Statement We have no relevant financial or nonfinancial relationship(s) within the products or services described, reviewed, evaluated or compared in this presentation.
3 Goals of this Session Describe the key characteristics of Rett syndrome: diagnostic criteria associated problems Provide key information on feeding and swallowing and discuss assessment and intervention strategies Describe communication skills and provide information on strategies for assessment and intervention
4 Hallmarks of Rett syndrome (RTT) Occurs primarily in females Characterized by significant impairments in: Cognitive skills Communicative abilities Motor function With improved understanding we can maximize potential and improve quality of life for individuals with RTT and their families
5 MECP MECP2 On the X chromosome Significant role in brain development Encodes a protein responsible for directing other genes Functions like a biochemical switch MECP2 controls expression of other genes turn on/turn off Disturbs the regulated patterns of development (Amir & Zoghbi, 2000)
6 RTT Continuum of Abilities There is variation A range of abilities/disabilities No longer considered to be degenerative Considered an age-related regressive disorder of neuronal development (Johnston, Mullaney & Blue, 2003)
7 Classic RTT Main Criteria Required features Early period of typical development, followed by a period of regression, followed by a stabilizing or recovery period, plus the following four main criteria: Partial or complete loss of functional hand skills Partial or complete loss of spoken language skills Impaired apraxic gait or absence of ability to ambulate Stereotypic, repetitive, nonfunctional hand movements (Neul et al., 2010)
8 Classic RTT Exclusion Criteria A diagnosis of RTT cannot be made if there is: Any acquired injury to the brain, neurometabolic disease, or infection resulting in neurological impairment A history of abnormal psychomotor development in the first six months of life (Neul et al., 2010)
9 Classic RTT Supportive Criteria - often observed, not required Respiratory disturbances, such as rapid breathing or breath holding Teeth grinding Impaired sleep patterns: frequent sleeping during the day, frequent night waking Abnormal muscle tone Peripheral vasomotor disturbances Small cold hands and feet Scoliosis and/or kyphosis Growth retardation Laughing and/or screaming spells, not appropriate for the context Lessened response to pain Intense eye communication often referred to as eye pointing (Neul et al., 2010)
10 Atypical or Variant RTT Child must experience a period of regression followed by a regaining of skills Must display a minimum of 2 of the 4 main criteria and 5 of the 11 supportive criteria Individuals with Variant RTT type may have some preserved verbal language (Neul et al., 2010)
11 Rett syndrome: Swallowing Deficits 80% of individuals with Rett syndrome have reported swallowing deficits (Budden,1986; Motil et al.,1999) Risks: Malnutrition and growth failure Potential for aspiration (Motil et al., 1999)
12 Rett syndrome: Swallowing Deficits Oropharyngeal dysfunction Inadequate lip closure Impaired chewing Poor tongue mobility-weak base of tongue retraction Reduced oral and pharyngeal transit time and clearance Penetration of liquids and solids during the swallow Many studies report no overt aspiration Gastroesophageal dysfunction Esophageal dysmotility Delayed emptying Spasms Gastroesophageal reflux (Motil et al., 1999, Morton et al. 1997, Budden,1995, Lavas et al., 2006)
13 Related problems Abnormal breathing patterns Breath holding and breathing deficits during meals - more difficulty swallowing Interferes with eating- as swallowing takes place on expiratory phase of breathing (Morton et al. 1997,Morton et al., 2002) Severe Constipation Causes decreased appetite (Isaacs et al., 2003) Gastrostomy placement for improving height and weight (Motil et al., 2009)
14 Feeding/Swallowing Recommendations Swallowing/Feeding evaluation Nutritional assessment Early analysis of texture tolerance Diet modification- less chewy textures (Issacs et al. 2003) Feeding Maintaining self-feeding- hand on utensil may give feedback to coordinate breathing/feeding pattern Feeder Training- need to be aware of breathing patterns potential breath holding (Morton et al., 1997) Feeding Aids specialty cups and bottles; adjusted seating/specialty chairs (Issacs et al., 2003)
15 Survey of communication in RTT We all communicate using multiple modalities individuals with RTT do as well They use eye gaze most frequently, followed by picture/symbol boards (accessed by switches or hands) and body movement Exposure to AAC should begin EARLY Educators should evaluate all modalities (gaze, gestures, vocalizations, pictures/symbol use) Not all modalities work at all times Consider: influence of apraxia, delayed response time, inconsistency, level of awareness (Bartolotta et al., 2011)
16 Communication modalities Percentage of girls using each modality (Bartolotta et al., 2011)
17 Response Time 57% require 11 seconds or more to generate a response Percentage of girls and number of seconds required to produce a response (Bartolotta et al., 2011) >30
18 Systematic Review An analysis of nine experimental studies of communication intervention Positive outcomes reported for 84% of participants (26 of 31 individuals with RTT) Thoughts - o o o How is experimental different from real life Why we interpret these results with caution What this tells therapists and educators (Sigafoos, et al, 2009)
19 Outcomes of studies Some positive gains in communication reported for most individuals with RTT Evidence is weak because of lack of follow up and lack of clear reporting of data Only one study reported definitive evidence three girls were trained to touch a picture on a computer screen to request objects
20 Eye gaze information Visual preference for socially engaging stimuli Eye gaze patterns are similar to typically developing children Eyetracking technology has potential for: Assessment of cognition and communication skills Communication use (Djukic & McDermott, 2012: Djukic et al., 2012)
21 Challenges We know it s difficult to study communication in a controlled way in individuals with severe disabilities You often need to know them well in order to determine what they understand and can communicate There's not a lot of information to guide therapists & other educational professionals
22 The potential for communication exists within those with RTT - we have to find it Great potential for communication using a range of modalities Eye gaze Switch use hands, head, body Vocalizations, sounds Body movements The individual with RTT will grow and change over time we must provide dynamic experiences to enhance development!
23 Communication Options Consider MULTIPLE options for each context Typical to have different communication modes : Single switch with a message for circle time in school Eye gaze board/device (electronic or non-electronic) for lessons Head nods/vocalizations/body movements during mealtime or baths or car rides Each situation requires customized vocabulary that is meaningful and appropriate
24 Communication Partners - Interpreting meaning in interactions Individuals with severe disabilities rely on communication partners for successful interaction Partner uses inferences & intuition to give meaning to signals (Grove et al., 1999) Individuals with RTT are reported to use the following behaviors to signal meaning: Vocalizations, head & body movements, gestures, facial expressions, eye gaze, AAC devices (Bartolotta et al. 2011; Hetzroni et al. 2006; Ryan et al., 2004)
25 Communication Coaching Study of four girls with RTT and their feeders at mealtime in schools Mealtime chosen - a rich context for communication Videotaped meals to explore use of communication Identified teachable moments Discussed assumed competence Provided training of communication strategies to the feeders (Bartolotta & Remshifski, 2012)
26 Communication Strategies Offer choices of food or drink Increase wait time Offer opportunities for AAC devices provide these consistently If you think she is communicating, assume that she is assumed competence Use more questions or comments that require a response
27 Outcomes of Coaching Data suggests both girls and their feeders change their communication as a result of coaching: Girls make more requests and provide more responses Feeders make more requests and provide more responses Behavior of others in the classroom changes begin to offer more opportunities for communication in other contexts (e.g. circle, work time, etc.)
28 Pre-coaching
29 Example of coaching Girl with RTT, age 20 Baseline 4 sessions; Analyzed videos; Coaching; Repeat baseline measures 4 sessions with 1-month followup Strategies Offer choices of food and drink Increase delay time (by 5 seconds) between presentation of each bite or drink. Allow time for identification of a motor behavior that is potentially communicative, such as: Eye gaze Open mouth Vocalization Hand and body movements Maintain direct eye contact post-spoonful Increase use of verbalizations that would require a response
30 Post-coaching
31 Coaching Model in Home and School Find a context rich for communication Provide a reason to communicate Offer choices, ask questions Acknowledge all behaviors as communicative Look for behaviors to be repeated Wait behaviors can take a LONG TIME to be produced Do not expect 100% consistency data shows that performance will improve over time as behavior is reinforced Acknowledge a behavior as communicative and look for it to be repeated
32 Summary Communication intervention needs to: begin early be modified as the individual with RTT grows and changes Include all stakeholders offer multiple options for communication to meet the needs of different situations
33 References Bartolotta, T.E. & Remshifski, P.A. (2012). Coaching communication partners: A preliminary investigation of communication intervention during mealtime in Rett syndrome. Communication Disorders Quarterly, published online DOI: / Bartolotta, T.E., Zipp, G.P., Simpkins, S., & Glazewski, B. (2011). Communication skills in girls with Rett syndrome. Focus on Autism and Other Developmental Disabilities, 26(1), Djukic, A. & McDermott, M.V. Social preferences in Rett syndrome. Pediatric Neurology. 2012;46: Djukic, A., McDermott, M.V., Mavrommatis, K., & Martins, C.L. Rett syndrome: Basics features of visual processing a pilot study. Pediatric Neurology. 2012;47:25-9. Grove, N., Bunning, K., Porter, J.,& Olsson, C. (1999). See what I mean? Interpreting the meaning of communication by people with severe and profound intellectual impairment. Journal of Applied Research in Intellectual Disabilities, (12),
34 References Hetzroni, O. & Rubin, C. (2006). Identifying patterns of communicative behaviors in girls with Rett syndrome. Augmentative and Alternative Communication, 22 (1), Isaacs. J., Murdock, M., Lane, J., Percy, A. (2003). Eating difficulties in girls with Rett syndrome compared with other developmental disabilities. Journal of the American Dietetic Association,103, 2, Lavas, J., Slotte, A., Jochym-Nygren, M., Doom, J.,Engerstrom, J. (2006). Communication and eating proficiency 125 females with Rett syndrome: The Swedish Rett center survey. Disability & Rehabilitation 28, 20, Morton, R., Minford,J., Ellis, R. & Pinnington, L., (2002). Aspiration with dysphagia: The interaction between oropharyngeal and respiratory impairments. Dysphagia 17, Morton, R., Bonas, R., Minford, J., Tarrnat SC., Ellis, R (1997). Respiration patterns during feeding in Rett syndrome. Dev Med Child Neurology 39:
35 References Motil,K., Morrissey, M., Caeg, Erwin, Barrish, J., Glaze, D. (2009). Gastrostomy placement improves height an weight gain in girls with Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition,49, Motil, K., Schultz, R., Browning, K., Trautwein, L., Glaze,D. (1999). Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and woman with Rett syndrome. Journal of Pediatric Gastroenterology & Nutrition, 29, 1, Ryan, D., McGregor, M., Akermanis, K., Southwell, K., Ramke, M., & Woodyatt, G. (2004). Facilitating communication in children with multiple disabilities: Three case studies of girls with Rett syndrome. Disability and Rehabilitation, 26(21/22), Sigafoos, J., Green, V.A., Schlosser, R., O Reilly, M.F., Lancioni, G.E, Rispoli, M. & Lang, R. (2009). Communication intervention in Rett syndrome: A systematic review. Research in Autism Spectrum Disorders, 3,
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