CHARGE Syndrome Foundation First “Ask the expert” webinar

1. CHARGE Syndrome FoundationFirst “Ask the expert” webinar David Brown Sunday May 22nd 2016 7pm EDT

2. Resources & literature • CHARGE Syndrome Foundation (Professional Packet, AJMG, ASHA video, Parent Manual, CHARGE Accounts, webinars, links) • Perkins School for the Blind CHARGE webcasts • CHARGE Lab at Central Michigan University • NCDB (National Center on Deaf-Blindness) • Texas School for the Blind & Visually Impaired • California Deaf-Blind Services • Sense UK CHARGE Information Packet • Books from the USA, from the CHARGE Association of Australasia, and from Germany • Face Book

3. CHARGE Syndrome Foundation Research Grant Program 2016 The CHARGE Syndrome Foundation, Inc. (Foundation) announces the availability of research grants of up to $50,000. The purpose of these grants is to promote: a)  new biomedical research into the etiology, genetic and molecular mechanisms and treatment of CHARGE syndrome or b)  new research into clinical and medical diagnosis and treatment of CHARGE syndrome.

4. CHARGE Syndrome Foundation Recommendations for future research Behavioral issues Cochlear implants Control of excess salivary secretions Enuresis Genetics Growth, bone, cartilage, & muscle development Immunology Hormones, fertility Life cycle issues Neurological issues Sleep disturbance

5. https://www.cmich.edu/colleges/chsbs/Psychology/charge/Pages/default.aspxhttps://www.cmich.edu/colleges/chsbs/Psychology/charge/Pages/default.aspx

6. CHARGE Lab research topics The effects of a fun chi video on sleep and emotional self-regulation in children with charge syndrome Interventions for sleep problems in CHARGE syndrome The development of social play in CHARGE syndrome A measure of severity of CHARGE syndrome Anxiety in CHARGE syndrome Recreational choices and opportunities in CHARGE syndrome Headaches in CHARGE syndrome Decision making in the removal of gastrostomy tubes in CHARGE syndrome Peculiar behavior in CHARGE syndrome Inclusion of children with CHARGE syndrome The effects of psychotropic medication on children with CHARGE syndrome Parents finding connections to support themselves raising their child with CHARGE syndrome

7. https://www.facebook.com/BulldogCHARGELab/?fref=ts 

8. Bulldog CHARGE Lab research topics CHARGE and IEPs CHARGE and family demographics CHARGE and issues of sexuality Differences between CHARGE and autism

9. Dental Issues Delayed (or early) eruption Teeth grinding Poor quality dental enamel Pouching of food Medications Reflux and vomiting Facial clefting Facial palsy Misaligned teeth

13. My Condition I am five days old here. Papa his name is Ben and Mommy her name is Launie. Hi my name is Lestat. The people closest to me call me Buddy. I have a rare condition called CHARGE Syndrome. I have a hard time communicating with people so in this short story of Me I will let you know about my skill levels and some of what I have been through in my life. I am a happy boy. I love my Mommy and Daddy very much. I smile and wiggle my arms around and kick my legs when I hear or see Papa (that’s what I call Daddy) come into a room. Mommy is here all the time taking care of me. I like holding hands. I love to kiss and be kissed. Be careful though I lick! I am deaf. If my Cochlear Implant has fallen off I will not respond to you or I may get upset. I have a hard time seeing because I have Colobomas of the optic nerve. My Mom and Dad don’t know how well I really see, so we do our best to give me visual input. I have had many surgeries. And a few more on the way. I have many doctors, nurses, therapists and teachers that help take care of me. They give Mommy and Papa information and tips. We know loads of people and I really get along with them. I am a team player but it is on my terms. Kindness ~ IS THE LANGUAGE WHICH THE DEAF CAN HEAR AND THE BLIND CAN SEE~ ~Mark Twain~

14. Communication Nervous NotHappy Content Happy I communicate mainly with my physical and facial expressions. When I am a happy boy I wiggle my arms up and down and smile. Sometimes my whole body gets in the groove and I do a wiggle dance. I do laugh rarely you just can not hear it because of my trachea tube. When I am mad I kick my left leg hard and purse my lips. I sometimes cry when I am angry. I self sooth when things get out of hand by sucking on my tongue and holding my hands on my tummy. Stimulation of any kind I usually tolerate pretty well. I am a nervous wreck though if I get too much. I will breath fast, dart my eyes around, have wild arm movements, it kind of looks like I am conducting a band, smile or frown. If you notice the symptoms please try to be quiet, lower the lights and lay me flat on my back with a pillow under my head. I will do the rest by self soothing. It takes a long time for someone new to get to know me. I am very expressive, you just have to watch me and try to interpret what I am trying to tell you. If you get stumped on my communication Mommy or Papa will always be around to ask. They usually know what I am trying to say. Faith ~ IS THE BIRD THAT FEELS THE LIGHT WHEN DAWN IS STILL DARK ~Rabindranath Tagore~

15. You want to put the thermometer WHERE???? 9 views since 01/2009 Explore MySpace Photos Sensory What’s a thermometer? You want to put the thermometer where!?! I am fussy when it comes to touching me. I like firm touches. Mommy is working on the lighter touches to try to get me used to them. I like to explore things with my hand and left foot. You can run things over my body and let me feel them, I like that too. Show things to me and let me try to feel them on my own. Then you can try to make me feel it but I warn you things are done at my pace. I love texture books. I look a things and then touch them. I can’t seem to do both at once. It over loads my senses. COLD is a no no. I really don’t like anything cold. I prefer things to be room temp or warmer. Vibration is good. Things that flash or light up we have to be careful with, I like them but they do not like me. They give me seizures. Smell. Well I don’t think I can smell much. I love Techno music and Christmas songs. I like all kinds of sounds now that I have my implant. I don’t like to hear babies cry though. I didn‘t say it was your fault - I said I was going to blame you ~Author Unknown~

16. Hearing Cochlea Cochlear nerve Cochlear Implant Surgery The Outer Ear Auditory Canal Eustachian tube • I am completely deaf in both ears. • I do have the new Cochlear Implant in my left ear. I keep it on as much as I can. I don’t like to go without it. I will throw a fit until someone realizes that it has fallen off and needs to be put back on. • I love Techno music and Christmas music. I like baby songs too. I am learning on my own to groove to the music. • I like to have the TV on most of the time. • When I hear a new sound I get really still and listen. Mommy and Papa are teaching me to listen to all different sounds. I like it when people point to what is making noise and put a name to the sound. I don’t like to hear babies cry though. It upsets me. • My hearing teacher Vanessa says I am learning quickly to hear and put meaning to sounds. She gives my Mommy materials to help me learn to hear. I can only please one person a day. Today I choose me. ~Author Unknown~

17. Vision This is my eyes before surgery. See how they drift out. This was the day after surgery. I see mainly through the top half of my eyes. Try to hold things straight in front of me or above the middle of my eyes and I will more than likely see the object. I have Colobomas of the optic nerve. It causes black spots in my vision field. This is why I can see things best in the upper vision field. Try to bend over me or come at me from the top or middle, if you come at me from below I may startle because I don’t know you are there unless you tell me your going to get me. We know that I have Astigmatism in both eyes. I have had Strabismus surgery to align my eyes to midline as best we could. Bright lights really irritate me. I like dim lighting. When I go outside I usually wear sunglasses to help with the sensitivity to light. Laughter gives us distance. It allows us to step back from an event, deal with it and then move on. ~Bob Newhart~1929

18. Movement This is a good look at how my leg looked before we had it removed. My leg after surgery. I have a hard time moving around. My trunk muscles are very weak. I exercise daily to strengthen them. We are working on sitting with out assistance. Or at least sitting up for an extended period of time. I am starting to roll to my left side and make a big circle. It takes me an hour or longer but I will complete the circle. We still work on tummy time and try to get me to roll all the way to my tummy and back off. I am getting better at it but I still need help. I have a prosthetic leg. It fits over my right leg and gives me the foot and lower limb I had to have removed because of a missing tibia, some ankle bones missing, no knee cap and foot deformities. I have help practicing standing. I need to stand everyday to help form my hip sockets. I had hip dysplasia in my left hip and had to have surgery and stay in a Spika cast for six weeks. My arms are tight at the shoulders. It is uncomfortable to raise my arms above chest height. I work on it but it is still tough. My neck is pretty stiff too. I keep it midline most of the time. I can only turn it slightly from side to side. I have pretty good head control most of the time. But I still need support. Courage and perseverance have a magical talisman, before which difficulties disappear and obstacles vanish into air . ~John Quincy Adams~

25. Vision Hearing Touch Proprioception Temperature Pain Vestibular Smell Taste CHARGE - the most ‘multi sensory impaired’ of all syndromesProblems with the perception of:

26. PROPRIOCEPTION The receptors are in the muscles and joints throughout the body Tells us about the position of our body and all of our limbs, and if anything is moving VESTIBULAR The receptors are in the Inner Ears Tells us about head position & the pull of gravity, detects motion, and it has very close links with the eyes and vision “The Forgotten Senses”

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28. Dr. George Williams “Balance in CHARGE”CHARGE Syndrome Foundation Manual Vestibular function has a role in… Detecting motion Detecting & responding to gravity Providing stability during body movement Locating body parts & developing body schema Influencing muscle tone and posture 28

29. Facilitating the crossing of the midline Motor control, coordination & sequencing Assisting with auditory & visual perception Modulating arousal & alertness for attention and calming Dr. George Williams “Balance in CHARGE”CHARGE Syndrome Foundation Manual (cont.) 29

30. Early effects of poor (or missing) vestibular function in children with CHARGE Syndrome (Brown, American Journal of Medical Genetics, March 2005) Low muscle tone (“floppy muscles”) Poor head control & poor ability to resist gravity Strong postural insecurity when held upright Marked preference for being flat on the back Delayed mobility & unusual movement patterns (eg. back scooting, side-winding, five-point crawl) Never gets dizzy 30

31. Early effects of poor (or missing) vestibular function in children with CHARGE Syndrome (Brown, cont.) “W” sitting for broader, more secure base Better visual, auditory and fine motor skills in supine than in the upright position Strong preference for fully-supported horizontal postures Poor bilateral coordination, hand and eye dominance is either total or missing Fatigue after trying to resist gravity for periods of time Difficulties with self-regulation 31

32. “The only function of the body is to carry the brain around” Thomas Edison

33. Why might movement be difficult? (1) Orthopedic issues: Skeletal/ Muscles & tendons/ Brain (ie. Cerebral Palsy)/ Poor quality connective tissue Sensory issues: / Blindness/ Deafness/ Vestibular/ Proprioceptive/ Tactile Drugs/medication Seizures Breathing problems Nutrition issues (feeding problems, poor absorption of food, low energy, poor bone growth & poor muscle growth)

34. Why might movement be difficult? (2) Stress  Depression  Fear  Low expectations Poor awareness/poor motivation Distractibility A vicious circle – all these issues create movement problems, but also movement problems can compound and exaggerate these issues

35. I believe that most children with CHARGE are not in touch with/do not feel their bodies very well

36. *Communication with one’s own body *Communication with one’s immediate environment*Communication with the wider world

37. Where’s my head? Head weaving Head binding (hat, sweatband, scarf, string) Head holding/ tapping Head pressing (or head standing!) Jaw clenching Teeth grinding Biting/ chewing

38. Everything that children with CHARGE do has meaning, and the first obligation on the teacher is to ascertain that meaning (or at least to come up with a really good guess).

39. Why is walking a big problem? Bone malformations Loose joints & low muscle tone Visual impairment Other sensory issues (Proprioceptive & Vestibular!!!) Breathing problems Cerebral palsy? Stress, depression, fear Medication Distractibility (one thing at a time) Low expectations & over-protection Too many faster, safer ways of moving!

40. What helps? Physical jerks Deep pressure Binding Good physical support & appropriate postures for efficient functioning Rest Regular movement Controlled environment Self-taught and taught strategies Appropriate vocabulary

41. So….????? *Getting the brain in better contact with the body/postural security *Preparation for attending and learning *Stabilizing the visual field *Self-regulating *The importance of sensory inputs, positioning, & posture/movement

42. Early mobility Rolling Side-winding Back scooting Bottom shuffling 5-point crawling Regular crawling

43. The Equilibrium Triad Proprioception Vision Vestibular

44. Walking Walkers Rolling gait Flat feet/ bent knees Foot slapping Tip-toe walking Feet roll inwards/ knees knock together Arms extended to the sides or in front Fingers crossed/hands clenched Eyes fixed on a visual target ahead

45. [Self-regulation]… “is defined as the capacity to manage one’s thoughts, feelings and actions in adaptive and flexible ways across a range of contexts” Jude Nicholas, CHARGE Accounts, Summer 2007

46. Self-Regulation Can we help the individual to recognize and deal with excessive levels of over-arousal or under-arousal, in socially acceptable ways? If self-regulation is difficult, can the individual learn ways of asking for help?

47. The 9 levels of arousal (Carolina Record of Individual Behavior) • Uncontrollable agitation • Mild agitation • Fussy awake • Active awake • Quiet awake • Drowsy • Active sleep • Quiet sleep • Deep sleep

48. 1. Where are you on the ladder of arousal?2. Where do you need to be?3. How can you get there?

49. Using the ladder Fewer steps Individualized vocabulary Words/ symbols/ pictures Re-visiting/ social stories Role play What do you like/need?

50. Jobs for us “Reading” (ie. observing & interpreting) Making connections Helping the individual “feel” their body Providing an increasingly precise vocabulary of emotions/states Directing the individual’s attention Reminding the individual of strategies Matching/sharing experiences & feelings