Sessions at Rare Diseases and Disorders: SLP Assessment and Intervention

March 13–25, 2024 | Online Conference

Rare Diseases and Disorders: A Framework for Assessment and Treatment for the SLP
Adriane Baylis, PhD, CCC-SLP

This session will review a framework for how an SLP in any work setting can approach a rare condition, especially genetic syndromes, focusing on the speech, language, hearing, feeding, and swallowing impacts of the disease or disorder. The session will discuss where to find evidence-based information on rare diseases and disorders and how to develop an appropriate and individualized assessment and treatment plan for a child. The speaker will also present case examples of framework application and strategies for working with team members.

After completing this session, you will be able to:

• plan for a speech-language or swallowing/feeding evaluation of a child with a rare condition, balancing condition-specific concerns and individual needs
• state two examples of when a treatment plan may need to be adapted in the context of a rare disease or disorder
• identify three sources of evidence-based information about rare diseases and disorders that will be useful in your practice

Overview of Rare Diseases and Disorders
Tiina Urv, PhD

Rare diseases aren’t as rare as the name implies. In fact, rare diseases affect more than 300 million people worldwide. This session provides an overview of rare diseases, including prevalence, financial burden, and challenges in diagnosis, research, and treatment. The speaker presents recommendations for future improvements as well as resources for SLPs.

After completing this session, you will be able to:

• state the prevalence of rare disease in the U.S.
• state the current estimate of the number of different rare diseases
• list two challenges that patients with rare diseases face
• list three challenges that researchers of rare diseases face
• list three recommendations for future improvements in research and services for people with rare diseases

Working With Children Who Have Rare Conditions: Parent Advocacy and Support
Eileen Nordmeyer, MA, CCC SLP

SLPs who work with children with rare conditions not only have to effectively diagnose speech, language, swallowing, and cognitive deficits but also need to understand the impact raising a child with a rare condition can have on parents and families. In this session, an SLP who is also the parent of a child with a rare condition will share their personal and family experience, what SLPs should know about working with families affected by rare conditions, and how SLPs can support and advocate for these families.

After completing this session, you will be able to:

• explain the role of grief and how it impacts parents/families of children with rare conditions
• identify the stressors that parents of children with rare conditions face and how to best engage parents in the intervention process
• explain the importance of connection with other families and how SLPs can facilitate this

The Rett Syndrome Communication Guidelines: A Resource for Best Practices in SLP Assessment and Evaluation
Theresa Bartolotta, PhD, CCC-SLP

This session will discuss how the features of Rett syndrome impact communication as well share strategies to assist individuals with Rett syndrome and their families in advancing communication to improve quality of life. The session will focus on The Rett Syndrome Communication Guidelines—the first evidence-based resource for assessment and evaluation of communication skills in individuals with Rett syndrome.

After completing this session, you will be able to:

• summarize the contents of the Rett Syndrome Communication Guidelines
• identify resources for best practices in communication assessment and intervention for individuals with Rett syndrome
• use the Rett Syndrome Communication Guidelines to assist team members in understanding how the features of Rett syndrome impact communication

Content disclosure: This session focuses on a particular assessment and intervention guide.

Rare Diseases and Disorders Associated With Cleft Palate and Velopharyngeal Dysfunction
Adriane Baylis, PhD, CCC-SLP, and Caitlin Cummings, MA, CCC-SLP

Cleft lip/palate (CLP) and velopharyngeal dysfunction (VPD) are often associated with genetic syndromes and other congenital anomalies. This session will focus on a variety of craniofacial syndromes, their causes and unique features, and associated deficits in speech, language, hearing, and feeding. Speakers will discuss general CLP and VPD assessment and treatment principles, as well as syndrome-specific guidance, for use in the management of children with cleft palate and/or VPD with diagnoses of Pierre Robin sequence, Stickler syndrome, craniofacial microsomia (CFM), Treacher Collins syndrome, 22q11.2 deletion syndrome, and Prader-Willi syndrome.

After completing this session, you will be able to:

• describe the specific speech, language, hearing, and feeding/swallowing profiles of children with six rare conditions/syndromes associated with cleft palate and velopharyngeal dysfunction (VPD)
• describe how approaches to evaluation and treatment of articulation, language, and resonance disorders in children with cleft palate and/or VPD may vary based on syndromic conditions
• describe the role of team care in the management of speech and language disorders in children with syndromic cleft palate and VPD

Craniosynostosis and Associated Syndromes: Risk for Speech-Language Disorders
Lynn Marty Grames, MA, CCC-SLP, and Kathleen A. Kapp-Simon, PhD

SLPs may be unaware of possible neurodevelopmental differences in children with single-suture synostosis or syndromic forms of craniosynostosis, the premature closure of cranial growth plates. This session will examine possible differences that SLPs may encounter when working with these children and describe evaluation and intervention techniques that SLPs can use given oral structural differences.

After completing this session, you will be able to:

• describe sutures involved in craniosynostosis and the related neurodevelopmental implications of this diagnosis
• describe possible oral structural differences that may be associated with craniosynostosis
• discuss articulatory adaptations that can be taught in the treatment of speech sound disorders

Genetic Conditions and Childhood Motor Speech Disorders
Ruth Stoeckel, PhD, CCC-SLP, and Angela T. Morgan, BspPath (Aud Hons), PhD

SLPs are often unsure of how to proceed with treatment when a child is identified with a low-incidence genetic disorder and motor speech impairment. This session will provide clinicians with updated evidence regarding genetic issues associated with childhood apraxia of speech (CAS) and how they may influence treatment. Speakers will discuss how to identify and treat children with possible genetic CAS.

After completing this session, you will be able to:

• describe the genetic causes of childhood motor speech disorders
• identify children with possible genetic bases for their motor speech disorder
• select appropriate treatment for children identified with motor speech disorders in the context of genetic findings

Communication Assessment and Treatment Planning for Children Who Experience Deaf-Blindness
Deirdre Galvin-McLaughlin, MS, CCC-SLP; Emily D. Quinn, PhD, CCC-SLP; and Alexandria Cook, BA

SLPs often report difficulty in evaluating the communication skills of children who are deaf-blind and creating intervention plans for them. The Communication Matrix has been used for decades as an inclusive communication assessment for this population. This session will discuss the communication skills of children who experience deaf-blindness by examining the Communication Matrix results of a large international cohort of children with dual hearing and vision impairments. Using several case examples, speakers will illustrate how SLPs can use the Communication Matrix for assessment and treatment planning.

After completing this session, you will be able to:

• complete the Communication Matrix assessment for a client who experiences deaf-blindness
• interpret Communication Matrix results to establish a functional baseline for intervention planning
• select intervention targets based on established baseline from Communication Matrix results

Content disclosure: This session focuses on a particular assessment tool.

Complex Feeding and Swallowing Disorders Associated With Rare Conditions
Scott Dailey, PhD

This session will explore several rare diseases and disorders that may have associated feeding and swallowing difficulties. The speaker will share evaluation and treatment processes and strategies.

After completing this session, you will be able to:

• list three rare diseases or disorders that may result in feeding and/or swallowing difficulties
• describe key features of feeding and swallowing disorders associated with certain rare diseases or disorders
• collaborate with a team to develop and implement a plan to manage feeding or swallowing difficulties for a patient/student/client

AAC for Children With Complex Neurodevelopmental Disorders
Andrea Barton-Hulsey, PhD, CCC-SLP

This session will explore approaches for assessment and treatment using augmentative and alternative communication (AAC), including selection and implementation of AAC systems, for children with limited speech who have rare diseases or disorders. The session will provide tips for interprofessional collaborative practice as well as family-centered practice. The presenter will discuss resources to help SLPs advocate for AAC, selection of assessments that target receptive and expressive communication skills, and design of treatment plans that focus on growth within contexts of daily living and natural settings.

After completing this session, you will be able to:

• list assessment tools and strategies that can be used to identify communication strengths and areas of need for children with limited speech who have rare diseases or disorders
• list the members of an interprofessional team to support a child with limited speech who has a rare condition
• identify and debunk myths around the use of AAC for communication development
• advocate for the communication rights and inclusive practice for children with limited speech who have rare conditions

How Professional and Patient Advocacy Organizations Support Patients and Families
Adam Levy, CAE, and Erica Klauber, MBA

Dozens of professional and patient advocacy organizations are available to provide education, support, and/or assistance to patients with rare conditions and their families. This session will inform SLPs about the role of professional organizations, using established, national craniofacial-focused organizations as a model. The speakers will discuss the roles that these professional organizations play in the patient care journey as well as the ways in which the organizations advocate, educate, and provide resources for patients and professionals.

After completing this session, you will be able to:

• explain what a patient advocacy organization is and how established organizations differ from smaller support groups
• explain why these types of organizations are important and relevant throughout a patient's care journey
• state how SLPs can participate/become allies in advocating for patients with craniofacial conditions and other rare diseases/disorders

Genetics and Genomics Overview for the SLP
Howard Saal, MD

Many individuals who SLPs evaluate and treat for speech-language, cognitive, and swallowing disorders have underlying genetic conditions. This session will provide an overview of human genetics and genomics and explore how our knowledge of the human genome has led to the development of new diagnostic technologies for these genetic conditions. The speaker will discuss how these new diagnostic technologies can result in improved treatment—including speech-language, cognitive, and swallowing intervention—for individuals with these conditions.

After completing this session, you will be able to:

• explain the difference between genetics and genomics
• list the different types of tests used to diagnose genetic conditions
• give examples of genetic disorders that SLPs may encounter

"I loved how there were different perspectives on the same subject. I liked the tips and practical strategies that were provided."