Charge Syndrome

1. Charge Syndrome Margarita Gomez JHU Low Incidence June 18, 2009

2. What is Charge Syndrome? • A genetic pattern of birth defects (National Consortium on Deaf-Blindness, 2009) • Occurs in every 9 in 10,000 births worldwide • A very complex syndrome involving extensive medical and physical difficulties • Difficulties differ from child to child • CHARGE stands for: C-coloboma of the eye, H-heart defects, A-atresia of the choanae, R- retardation of growth and/or development, G- genital and/or urinary abnormalities, E-ear abnormalities and deafness (CHARGE Syndrome Foundation, 1993-2009)

3. Symptoms • Complex heart defects • Swallowing/breathing problems • Hearing loss • Vision loss • Delay in development and communication • Impaired sense of balance, touch, temperature, pain, pressure, smell • Regulatory disorders affecting sleep-wake cycle, hunger-satiety cycle, ability to regulate emotions, • Low muscle tone (Blake KD, Davenport SLH, et al.,1998)

4. Etiology • One theory is that a small deletion occurs in chromosome 8. Thus a new gene is formed in that small region of chromosome 8-CHD7. A mutation then occurs in the gene CHD7 . This mutated gene is found in 70% of individuals diagnosed with charge. • Further research in currently being conducted (LalaniSR, Stockton DW, et al., 2003)

5. Effect on Classroom Functioning • Every child is different • Each child functions at different levels • “Autistic Type "Behaviors- obsessive-compulsive, tic disorders, attention difficulties • a high level of anxiety or nervousness • repetitive questions about the same topic • inflexible behavior • upsets over changes or disruptions in schedules or routines • Sleep disorders- falling and staying asleep • repetitive non-functional behaviors (OCD-like) • aggression or self-injurious behavior as a result of redirection from repetitive nonfunctional behaviors • Withdrawal (Brown, D., 2003)

6. Effect on Classroom Functioning • Communication-most children with Charge have hearing loss and vision thus a total communication approach is necessary gestures, simple signs, print/Braille, facial expression, symbols, and PECS (Picture Exchange Communication System) in addition to speech and sign language • Sensory Needs • Educational placements for children with CHARGE include a range of educational settings, including residential schools, separate schools, home schooling, separate classes, and regular classes (CHARGE Syndrome Foundation,2008).

7. Suggestions for Teachers • Know the Child’s Visual/Auditory Window • Routine and structured activities • Frequent sensory breaks • Use multi-modal approaches • Use UDL when teaching (multiple means of recognition, representation, and engagement. (CAST, 2009) • Prepare student for changes in their schedule or daily routines • Consult individuals who are working or have worked with the child (DHOH, Vision Specialist, Special Educator, Parents) (Quill, K.A., 2000)

8. Assistive Technology to address- Sensory Needs • Bean bag chair • Quiet room with low lighting • Cuddle swing • Weighted blanket or vest • These technologies can provide the necessary sensory input to address the sensory needs of children with Charge

9. Assistive Technology to address- Communication Needs • Communication books enable student to communicate their needs, wants. It gives them an opportunity to show what they know about a specific topic. These books can be made for different topics including meal time, home routines (tooth brushing, bedtime), math topics, reading topics, outings (supermarket, mall, bank, etc.) play time. (Enable Mart,1999-2009)

10. Assistive Technology to address- Communication Needs • Talkable-allows student to communicate needs and wants. It can also be used for academic purposes and it provides a way for students to demonstrate what they know. (Enable Mart1999-2009)

11. Assistive Technology to address- Transition Needs • Visual schedules helps students understand the sequence of events of the day. It can prevent behavior difficulties because students are aware of what is happening, what is next, and any changes in the routine. It can also breakdown a task into simple steps. • Timers (Griffin, H. C., Davis, M. et al., 2004)

12. Assistive Technology to address- Academic Needs (Low Tech) • Enlarged print on worksheets • A limited number of items per page helps students stay focused. • Adapted books including dividers or tabs to turn the pages on books, laminated pages to prevent tearing of pages, modified text with picture symbols. • Adapted worksheets modify text by using pictures; simplified text • Enlarged tools such as calculator and ruler to address vision difficulties • Pencil grip, large glue stick, to address fine motor issues • Viewfinder for reading

13. Software- High-Tech Devices • Boardmaker is a graphic database with over 4,500 Picture Communication Symbols. It is an excellent tool for educators. It is ideal for creating printed materials such as social stories, picture schedules, communication books, and adapted worksheets.

14. Software • Kurzweil 1000 is a reading, study skill, and writing program that can enable educators to differentiate instruction. It has many great features for students with visual impairments including: text-to-speech for books and websites, highlighting, scanning, zooming and many more.

15. Software • Intellikeys provides access for anyone with physical, visual, or cognitive disabilities who has difficulty using a standard keyboard. It comes with different overlays including alphabet, numbers, and arrow keys.

16. Software • The Touch Window allows students to navigate and interact with the computer by touching the screen, rather than operating the mouse. This is very useful for students with not only vision loss but students with fine motor difficulties.

17. Software • Writing With Symbols- Allows teachers to make picture materials. It helps students who don't recognize text yet to write with pictures. It allows text users to have a talking word processing program with a pictorial spell checker • Using this program teachers can make: picture stories for emerging readers, picture strips to use with reading books, picture directions for guidance, picture recipes for cooking activities, visual schedules to promote organization, customized wordlists, and social stories

18. Implementation • Situation: Student A is having behavior difficulties every time he/she transitions from one activity to another. • The first strategy we could implement is a personalized visual schedule that the student could carry around throughout the day. Before the end of each activity the student could change or remove the activity that is already finished. • The student could also be given a timer this way the student feels like they are more in control. • Lastly, the student might need a first/then chart. For example First we do reading, then you get chips.

19. Implementation • Student A is having difficulty reading The Snowy Day by Ezra Jack Keats. When she does read some words she does not understand or remember what she reads. Therefore she is falling behind her on grade-level peers. • The first way we could implement technology is to adapt the book using Boardmaker or Writing With Symbols. Depending on how many words she does recognize we adapt the book using only pictures or full sentences. • Next, we could also make or adapt comprehension worksheets using this same software. The worksheets could include 2 picture choices for the answer so she can chose the best answer. For example one question would be Who is the main character in The Snowy Day? The student would be given 2 choices Peter(a picture of a boy) or Rabbit ( a picture of a bunny.

20. Implementation • Student A is having difficulty extending patterns in Math. • One low-tech way to help this student is to make the shapes more tactile. We could make them out of sand paper therefore we would not be relying on the student to only visually recognize the shape but they could feel the shapes as well. • Another way is to make an interactive PowerPoint presentation for the child. The presentation would at first help the student match shapes and later extend simple paatterns. The student could use the adapted Intellikeys key board to interactively extend patterns using Powerpoint.

21. Implementation • Students are doing an author study in media center. They must do research online. Student A is having difficulty reading web pages and controlling the mouse. • First we could use the Touch Window or the IntelliKeys keyboard to avoid having to control the mouse. • Next we could use the Kurzweil 1000 program that way the text-to-speech feature could help her auditorally understand the research. She could also take down her notes using the highlighting feature or the speech-to-text feature.

22. Sources • Blake KD, Davenport SLH, et al. (1998) Charge association - an update and review for the primary pediatrician. Clinical Pediatrics,37(3),159-173. • Brown, D. (2003). Educational and Behavioral implications of • missing balance sense in charge syndrome. California Deaf-Blind Services,10(15). • CAST. (2009). Curriculum access for students with low-incidence disabilities: the promise of udl. Retrieved June 12, 2009 from http://www.cast.org/publications/ncac/ncac_lowinc_section4.html • CHARGE Syndrome Foundation. (1993-2009). About charge. Retrieved June 12, 2009 from • http://www.chargesyndrome.org/about-charge.asp. • CHARGE Syndrome Foundation. (2008). Professional Information Packet. Retrieved June 12, 2009 from • http://chargesyndrome.org/professional%20packet/prof_pkgv1may08.pdf • Griffin, H. C.;Davis, M. et al. (2004). Charge syndrome: educational and technological interventions. Review, 35(4), 149-157. • Lalani SR, Stockton, DW et al. (2003). Toward a genetic etiology of charge syndrome: i. a systematic scan for submicroscopic deletions. PubMed,118A(3), 260-6. • Quill, K.A. (2000). Do-watch-listen-say. Baltimore, Maryland: Paul H. Brookes Publishing Co. • Unknown Author. (1999-2009), Enable Mart. Retrieved June 12, 2009 from http://www.enablemart.com/ . • Unknown Author. (2009) National Consortium on Deaf-Blindness. Retrieved June 12, 2009 from http://www.nationaldb.org/ISSelectedTopics.php?topicCatID=2 .