“The DeafBlind Community: Communication, Trends & Techniques” January 24 & 25, 2015 First-Ever Online InterNational DeafBlind Conference DAY 2 PRESENTATION MATERIALS
PRESENTATION #1
Pro-Tactile:
The DeafBlind Way aj granda and Jelica Nuccio
“The DeafBlind Community: Communication, Trends & Techniques” First-Ever National Online DeafBlind Conference January 24-25, 2015 Hosted by DB-TIP
Pro-Tactile -Cultural definition: DeafBlind vs. deafblindness
-Brief history
‘Pro-tactile’ is: –a philosophy, –an attitude, and –a method It should not be reduced to Haptics (relating to the sense of touch) although it is very much about touch. Haptics is a technique like using a cane or learning braille. Pro-Tactile is a social movement, with a philosophy that guides practices, but does not define them.
P is for Philosophy A is for Attitude M is for Method How philosophy and attitude influence the importance of method?
• ‘Pro-Tactile’ is the socio-cultural philosophy currently shaping all deafblind practices: linguistics, interpersonal, and politics. • DB Community has contributed to this philosophy and method in close collaboration with aj granda, Terra Edwards and Jelica Nuccio.
Autonomy The philosophy of ‘Pro-Tactile’ is centered in the DB experience but it is also about the autonomy of the DB person to: • take the initiative, • think for themselves, • seek out information, and • do tasks on their own rather than passively receiving information second-hand at the discretion of others.
Attitude is all about respect. Attitude is having healthy boundaries.
Method • 1. Backchanneling (BC) • 2. Back Backchanneling (BBC) • 3. TASL a. classifiers b. maps c. size/pattern d. discourse of touch
Back-Channeling • ‘Back-channeling’ is the linguistic term for the response we give to the speaker as we listen. In English, it’s the “oh,” “umm,” “sheesh” to show our response. • In ASL it is all the facial expressions and head nods as well as the signs “[Y-handnod]” and “awful”.
Back-Channeling • Back-channeling can be verbal, or nonverbal, auditory, visual or tactual. • Back-channel signals indicate you are paying attention and listening. • They indicate your response or reaction (including feelings) to what is being said.
Back-BackChanneling • Back- backchanneling is what the listener gives while listening. • Feedback might come as verbal reporting of the responses of others. • For example, an SSP might inform the DB person that the clerk is nodding.
BBC has four groups of information: 1. 2. 3. 4.
Setting Emotions/tone Action Internal exchange
TASL: Tactile ASL • TASL is a new language that is scaffolded on, but distinct from VASL (visual ASL). • Since the beginning of the pro-tactile movement in 2007, TASL has been diverging from VASL, becoming its own distinct language. • Current research shows that new phonological, semantic, and deictic stems are emerging in TASL.
TASL a. b. c. d.
Classifiers Maps Size/pattern Discourse of touch 1. Starting point to ending point 2. Procedural 3. Tactile Imagery vs. Visual
TASL Classifiers • aj granda, Terra Edwards and Jelica Nuccio have theorized and played with ASL to modify the signs and their execution to make them clear tactually. • Instead of using the signer’s body to show relationships, the signer uses the listener’s body (the body of the DB person).
Two TASL classifier examples: -Cat sitting in a tree -Laptop
Different rules for space •Use tactile space •Not air space
Maps and Patterns • Arm, leg and back as space • Always use contact space, not air space for description and placement
Discourse of Touch • Start point to end point • Procedural • Tactile Imagery vs Visual Imagery
Conclusion • Pro-Tactile is the socio-cultural philosophy currently shaping all deafblind practices: linguistics, interpersonal, and politics. • Back-channeling and TASL are important • TASL is a new language
Thank you for joining our DeafBlind world! aj granda: fancycane@gmail.com Jelica Nuccio: jelica.nuccio@comcast.net protactile@gmail.com www.protactile.org
PRESENTATION #2
Understanding Our Community:
Usher Syndrome Research Krista Vasi, MPA Executive Director, Usher Syndrome Coalition
“The DeafBlind Community: Communication, Trends & Techniques” First-Ever International Online DeafBlind Conference January 24-25, 2015 Hosted by DB-TIP
• Raising awareness • Accelerating research • Providing information and support to individuals and families affected by Usher syndrome • Bridging the gap between researchers and families • International Symposium on Usher Syndrome – Harvard Medical School, July 2014
Objectives • • • • •
What is Usher Syndrome? The steps to treatment Where are we now? Where do we need to go? Closing remarks
What is Usher Syndrome? • Most common cause of combined deafness and blindness • Causes hearing loss and progressive vision loss from retinitis pigmentosa (RP), balance issues • 30,000-50,000 people in the United States, 400,000 worldwide • Clinically and genetically heterogeneous • Three clinical USH types: Type 1, Type 2 and Type 3 – 12 genetic subtypes
A Century of Usher Syndrome • Charles Usher: British ophthalmologist, did first definitive study in 1914 • Dr. William Kimberling: First researcher committed to studying Usher syndrome
Bill Kimberling’s 7 Steps to Treatment for an Inherited Disease 1. 2. 3. 4. 5.
Find the disease gene(s) Correlate genotypes and phenotypes Find or develop animal models Elucidate the disease mechanism Find or develop an effective treatment in the animal model 6. Screen the human population to identify people who might benefit 7. Test the treatment in these people
From the Petri Dish to You 1. Basic research – Understanding the fundamental aspects of a disease – Finding genes, genotype/phenotype, disease mechanism
1. Translational research – Develop effective treatment in an animal model
1. Clinical Research – Clinical Trials
1. Treatment and Follow-up
Research Continuum Basic
Translational
Trials I
Treatments II
III
IV
• The line between basic and translational research is blurry • Research and trials take years • Four phases – – – –
Phase I: Safety in small group Phase II: Efficacy in small group Phase III: Efficacy in large group Phase IV: Monitor long term clinical usage for side effects
• Only 1 in 12 human trials results in a clinical treatment
1. Find the disease gene(s) Usher Type/Locus
Gene
Protein
Frequency*
USH1B
MYO7A
Myosin VIIA
53-63%
USH1C
USH1C
Harmonin
1-15%
USH1D
CDH23
Cadherin 23
7-20%
USH1F
PCDH15
Protocadherin 15
7-12%
USH1G
USH1G
SANS
Rare (0-4%)
USH1J
CIB2
Calcium and Integrin-binding
Rare
USH2A
USH2A
Usherin
57-79%
USH2C
GPR98
VLGR1
6.6-19%
USH2D
DFNB31
Whirlin
0-9.5%
USH2 Modifier
PDZD7
USH3A
USH3A
Clarin-1
*Usher type 1 figures: Bonnet et al (2011), Roux et al (2011), Stabej et al (2012) Usher type 2 figures: Bonnet et al (2011), Le Quesne Stabej et al (2012), Garcia-Garcia et al (2013)
2. Correlate genotypes and phenotypes • Genotype: Genetic cause of the disease • Phenotype: How the disease presents itself • Hypothesis: specific mutations would behave the same – Research shows this hypothesis is wrong.
• Good news: – Rate of vision loss varies for people with the same genotype
• Bad news: – We don’t know the normal progression of the disease
3. Find or develop animal models Usher Type/Locus
Gene | Protein
Animal Model*
USH1B
MYO7A | Myosin VIIA
Mouse (shaker 1); Zebrafish (Mariner)
USH1C
USH1C | Harmonin
Mouse (deaf circler); Zebrafish
USH1D
CDH23 | Cadherin 23
Mouse (waltzer); Zebrafish (Sputnik)
USH1F
PCDH15 | Protocadherin 15
Mouse (Ames waltzer); Zebrafish (Orbiter)
USH1G
USH1G | SANS
Mouse (Jackson shaker)
USH2A
USH2A | Usherin
Mouse
USH2C
GPR98 | VLGR1
Mouse
USH2D
DFNB31 | Whirlin
Mouse (whirler)
USH3A
USH3A | Clarin-1
Mouse
*Sources: NIH, Nicolson et al (1998), Seiler & Nicolson (1999), Sollner et al (2004), Johnson et al (2005), Seiler et al (2005), Williams (2008), Phillips et al (2011)
4. Elucidate the disease mechanism • Understanding the Usher protein interactome • Christine Petit: “Gathering basic knowledge towards the development of therapeutic approaches” • Uwe Wolfrum: “Decoding of Usher Syndrome protein networks reveals insights in the molecular basis of the disease” • Monte Westerfield: “Defective protein complex assembly produces ER stress that causes cell death in Usher syndrome”
5. Find or develop an effective treatment in the animal model • • • • •
Drug-based therapy Gene therapy Optogenetics Prosthetics Stem cell therapy
Drug Therapy • Antisense Oligonucleotides (ASOs) – USH1C – Lentz and Hastings (LSU and Chicago Medical School)
• Ciliary Neurotrophic Factor (CNTF) – USH II/USH III/RP – Duncan (UCSF), Neurotech
• Translational read-through inducing drugs (TRIDS) – USH1C, USH1F, USH2A, USH2C, USH3A – Wolfrum & Nagel-Wolfrum, Mainz, Germany
Gene Therapy • UshStat clinical trial, USH1B – First human study of gene therapy to treat Usher – Phase I/IIa Dose Escalation Safety Study – Weleber & Pennesi, Oregon; Sahel, Paris
• USH1C, USH2A – Pierce & Vandenberghe (MEEI) • USH3A – Vision phenotype, Hauswirth Lab (UF) • USH3A – Hearing model, Alagramam (Case), hearing rescue, Lustig (Columbia)
Optogenetics • Gene therapy based approach • Bypass the lost photoreceptors by enabling other retinal cells (i.e. ganglion cells) to sense light • Channelrhodopsins in green algae – RetroSense, pre-clinical, RP – GenSight Biologics, USH1A (Sahel, Bennett, Cepko, Vandenberghe, Picaud) – Mohanty (University of Texas), RP – Flannery & Isacoff, (UC Berkeley), RP
Prosthetics • Cochlear Implant – Well-established
• Retinal Implant – Argus II, 60 electrodes, Approved by FDA, Europe regulatory, Health Canada – More than 100 individuals implanted worldwide
• Combined cochlear/vestibular implant – Phillips and Rubinstein, University of Washington
• Vestibular implant – Della Santina, Johns Hopkins School of Medicine
Stem Cell Therapy • Stone & Tucker, (University of Iowa) – Patient-derived induced pluripotent stem cells (iPSCs) – USH2A
• Klassen (UC Irvine) – Human retinal progenitor cells (hRPCs), RP
• Young (Harvard Medical School), ReNeuron (UK) – Human retinal progenitor cells (hRPCs), RP
State of Usher Syndrome Research Basic Stem Cells (Vision)
Translational Trials
Treatment s
Notes Stargardts and AMD
Stem Cells (Hearing) Gene Therapies
Usher 1b
Drug Therapies Ocular Implants Vestibular Implants Optogenetics
Usher?
The Final Steps to Treatment 6. Screen the human population to identify people who might benefit – No standard protocol for genetic testing
6. Test the treatment in these people – We are not in touch with enough people to sufficiently identify clinical trial candidates – 400,000 people with Usher in the world – ~3,000 in close contact with researchers
How Are We Doing? • Most advancements in understanding Usher in last 20 years. • The Good – Find the disease gene: eleven genes identified, fifteen possible genes – Elucidate the disease mechanism: Usher protein interactome
• The Not So Good – Find or develop animal models: Mice are not clearly demonstrating vision phenotype, no large animal model – Find or develop an effective treatment in the animal model: Lack of good models means less certainty
The Missing Pieces • Correlate genotype with phenotype: The more we learn, the less we know – Classic Usher typing is not accurate
• Committee developing roadmap to guide research • Greatest barrier to treatment development: We are not in touch with enough families – Clinical trials will be suspended, abandoned, or will fail to launch without enough candidates
Families are Critical to Research Success • • • • •
Source of natural history information Source of genetic information Pool of candidates for clinical trials Source of funding and advocacy Source of awareness which impacts funding and motivates researchers
Closing Remarks • Search for viable treatments is moving by leaps and bounds • Families ARE the cure • International Symposium on Usher Syndrome – Research community agrees – We need to identify everyone with Usher
• Support for families is critical to finding a cure
7th Annual Usher Syndrome Family Conference Saturday, July 11, 2015 New Orleans, Louisiana
Thank You Krista Vasi k.vasi@usher-syndrome.org Usher Syndrome Coalition: www.Usher-Syndrome.org Usher Syndrome Registry: www.Usher-Registry.org
Understanding Our Community:
CHARGE Syndrome Sheri Stanger, M.A., Ed.M. Director of Outreach CHARGE Syndrome Foundation “The DeafBlind Community: Communication, Trends & Techniques” First-Ever National Online DeafBlind Conference January 24-25, 2015 Hosted by DB-TIP
Objectives • Increase knowledge of the complexities of CHARGE syndrome • Increase understanding of the unique attributes and challenges presented by CHARGE syndrome • Increase knowledge of the Foundation and its resources
Option to insert picture with a caption here‌
A Better World For People With CHARGE Syndrome
What is CHARGE syndrome? • CHARGE syndrome is a complex genetic condition seen in about 1 in 10,000 births • CHARGE is an acronym coined in 1981 from some of the main features seen in many children • Clinical diagnosis by major and minor characteristics is still the most common and least expensive determination of this syndrome • CHD7 Gene (a regulatory gene on Chromosome 8) was discovered in the Netherlands in 2004 • Confirmed that CHARGE is a genetic condition • CHARGE is the leading cause of congenital deaf-blindness in the USA
Medical Features • • • • • • •
Heart Defects Cleft lip and/or palate Choanal Atresia Facial Palsy Swallowing Problems Breathing Problems TE Fistula or Esophageal Atresia
Young boy with bilateral cleft lip and palate
Clefting
Two friends signing “I Love You” Facial Palsy and Communication
Sensory Features • • • • •
Vision Loss Hearing Loss Balance Problems Behavior Issues Sleep Disturbance
Nothing Stops Me! Vision Loss
Young boy with cochlear implant
Hearing Loss
Young boy seated in a “W” position
Proprioception
One of the most misunderstood aspects of CHARGE syndrome
Behavioral Challenges
Complex Needs • • • • • • •
Strong Family Connections Strong Foundation Power in Numbers Outreach Collaborations Research Education
Resources Website – www.chargesyndrome.org Parent to Parent Contact Lists Provider Database Quarterly Newsletter – CHARGE Accounts E-news Links Webinars Past Conference Papers
Resources • New Parent Folder • Professional Packet • Management Manual for Parents in English and Spanish • Brochures • Medical Bibliography • Upcoming Events • Awareness Theme Months
Closing Remarks Complex Needs Require Strong Family Connections, Strong Professional Connections and a Strong Foundation
Young Adults with CHARGE Variety is the spice of life!
Contact Information Sheri Stanger, M.A., Ed.M. Director of Outreach 1-855-5CHARGE (toll free) sheri@chargesyndrome.org www.chargesyndrome.org
PRESENTATION #3
Role Comparisons Between an Interpreter, Intervener and Support Service Provider Maricar Marquez M.S.
“The DeafBlind Community: Communication, Trends & Techniques” First-Ever National Online DeafBlind Conference January 24-25, 2015 Hosted by DB-TIP
Objectives •
1. Participants will define the roles of a sign language interpreter, intervener, and Support Service Provider (SSP).
•
2. Participants will identify the responsibilities of the interpreter, intervener, and SSP when working DeafBlind individuals.
•
3. Participants will identify the types of situations the interpreter, intervener, and SSP can participate when working with DeafBlind individuals.
•
4. Participants will list general training requirements for people who wish to become an interpreter, intervener or SSP.
Sign Language Interpreter • A sign language interpreter is a person who interprets a thought or expression from a source language into an expression with a comparable meaning in a target language.
Intervener • An intervener serves as a liaison for a child or young adult who is deaf-blind and their environment while participating in the learning process.
Support Service Provider (SSP) • An SSP is a specially trained individual who enables people who are DeafBlind to access their environment and make informed decisions by providing them with visual and environmental information, human guide services, and communication facilitation.
The Role of an Interpreter Working with DeafBlind Individuals • Interprets between languages (ASL & English) or within one language (Pidgin Signed English & spoken English) • Provides visual and environmental information • Acclimates the DeafBlind person to the environment • Acts as a human guide • Works in educational, legal, medical, theatrical, and vocational settings
The Role of an Intervener • Facilities communication • Acts as a human guide • Provides visual and environmental information • Works alongside the teacher and assists in the learning process • Works in an educational setting or home
The Role of an SSP • Facilitates communication • Provides visual and environmental information • Acts as a human guide • Gives an opinion when asked • Works in community interactions as well as professional settings
Training Requirements • Interpreter training programs – Located within each state • Intervener programs – Two online programs, must be currently working with a DeafBlind student • SSP training – Volunteer work and community interactions
Resources & Citations • Yvette Brown, Lexington School for the Deaf, Jackson Heights, NY • Maricar Marquez, Helen Keller National Center, Sands Point, NY • Susanne Morgan Morrow, New York Deaf-Blind Collaborative, Flushing, NY • Registry of Interpreters for the Deaf, www.rid.org
Thank you! Maricar Marquez M.S. maricar.marquez@hknc.org
Role Comparisons Between an Interpreter, Intervener and Support Service Provider Yvette Brown
“The DeafBlind Community: Communication, Trends & Techniques” First-Ever National Online DeafBlind Conference January 24-25, 2015 Hosted by DB-TIP
Educational Intervener • Work for Board of Education at Lexington School for the Deaf. • Student is 6 years old, 1st grade • CHARGE Syndrome, profoundly deaf with cochlear implant, no vision in one eye.
One-on-One Support • Materials/Devices: – iPad connected to smart board – iPhone for zooming in to see the teacher for instruction in the front of the classroom – small dry erase board for demonstration.
• Communication: – Close up sign language – Tactile Sign Language.
Strengths: academics
Challenges: social engagement
iPhone for information at a distance
iPad connects to smart board
Dry Erase Board for Demonstration
Communication in Action: Teacher + Intervener + Student
Community Intervention • Community intervener as Home Health Aide/Home Rehabilitation Services • Deaf-blind 10 year old girl • Cortical Vision Impairment, Auditory Processing Disorder, Cerebral Palsy, with no vision and moderate hearing loss • Materials: Calendar system and tactile symbols. • Communication: Tactile Sign Language and Verbal communication.
Strengths: academics
Challenges: social engagement
Calendar System
Tactile Symbols
Tactile Sign Language
Thank You! Yvette Brown ybmd04@yahoo.com
Do not share or duplicate materials without permission of DB-TIP