1. Usher syndrome Working with families in the Early Years
Wendy Pallant Teacher of the MultiSensory Impaired and Teacher of the Deaf

2. Session Overview Usher Syndrome in context
causes & incidence of childhood deafness
types of Usher Syndrome
Usher and genetics
The balance system
how it works
functional signs & implications
Vision
clinical vision tests
functional assessment of vision
What we can do

3. About Me Qualified as a Teacher of the Deaf in 1987
Class Teacher in School for the Deaf in Hertfordshire
Advisory teacher in Northamptonshire (Signing provision)
Deputy Head in School for the Deaf in Lancashire
Advisory teacher in Lancashire (Early Years)
Working with MSI since Qualified as a Teacher of MultiSensory Impaired in 2008
My presentation is from my perspective as a teacher of the deaf

4. MultiSensory Impaired/Deafblind
Department of Education (DES) Policy Statement "Educational Provision for Deafblind Children“ (1989)
A continuum of loss
varying degrees of visual and hearing impairment
perhaps combined with learning difficulties and physical disabilities
Department of Health
Persons are regarded as deafblind/MSI if their combined sight and hearing impairment cause difficulties with
communication
access to information
mobility

5. Who is MSI
…..any degree of dual-sensory impairment that has a significantly adverse effect on the child’s ability to access education.
The children in this group will have very different needs arising from a congenital loss, acquired loss or degenerative condition. (p5)
Download from:

6. QTMSI Input may include children from the following groups:
Children who present as having hearing and vision loss both of a level that would, if as a single sensory need (HI/VI), lead to at least a moderate level of input from a sensory specialist teacher (QTVI/ToD). …..
Children whose diagnosis is not yet confirmed or completed but for whom the diagnostic process will be enhanced & expedited by input from a QTMSI…. This may include children with a progressive syndrome where dual sensory loss is likely in the future
Children who have profound and complex learning needs where functional use of distance senses of vision and hearing require specialist input to support development.
Role of QTMSI
Specialist support may be provided at home and in childcare and early education settings
diagnostic and educational assessment
facilitate individual access to information for learning
support suitable methods of communication

7. Involvement of Teacher of the Deaf
Diagnosis
“Most of us find out that our child is not destined to be Mozart when he or she begins to slaughter the clarinet in fifth grade band. But by then he or she has demonstrated other strengths.” Mark Dunning
“But for a parent of a newborn child identified through the newborn hearing screen, that reality slams home at an unwelcomed time and at an unwelcomed pace.” Mark Dunning
Involvement of Teacher of the Deaf

8. The Role of the Teacher of Deaf
Specialist assessments and interpretation of results
Provision of advice
Direct teaching through an enriched language input
Partnership working
Working with children and families
Continuing Professional Development
Created by BATOD NEC and published in July 2009

9. Supporting parents Identification of hearing loss
What can my child hear?
How will I be able to communicate with my child?
Will my child speak?
Will my child sign?
Where will my child go to school?
Why is my child deaf?
5 stages of grief repeated for each diagnosis

10. Levels of Hearing Loss Normal Hearing Mild (20-40dB) Speech banana
Moderate (41-70dB)
Severe (71-95dB)
Profound (95+dB)
NDCS and Early Support Booklets

11. Vision and Deafness Quality standard 10
Following the diagnosis of permanent conductive or sensorineural deafness, or if a child needs hearing aids, the child should be referred for a full ophthalmic assessment, and this should be repeated where appropriate at key stages of their development.
Quality standard 13
Ideally a follow-up appointment within two weeks should be offered for children who are priorities ... The family may want to involve their key worker in appointments. The family should be provided with contact details for the vision team or the local authority visual impairment teaching service.
Teachers of the deaf need to have an understanding of what this entails

12. Childhood deafness Claes Moller 80-100 different syndromes
NDCS Genetic Counselling p11
Pre-natal: Rubella, CMV
Post natal: meningitis, mumps
Syndrome – deafness found with other signs or health problems.
Claes Moller
different syndromes
Often presents as non-syndromic

13. Syndromic and Genetic Deafness
Too small
Older literature report 3%
Gallaudet University: (Number of children 3143)

14. Incidence of Usher Syndrome Claes Moller (2009)
Need up to date information
Geographical variations – lifestyle and environment!
10% of children referred for Cochlear Implant

15. Usher Type I
Usher Type II
Usher Type III
Hearing
Profound deafness in both ears from birth
Moderate to severe hearing loss from birth
Stable loss
the rate at which they decline can vary from person to person, even within the same family.
progressive hearing loss
may start as mild loss
Similar to Type 1 by 40-49
usually require hearing aids by mid- to late adulthood.
Vision
usually begin to develop vision problems in early childhood
almost always by the time they reach age 10.
vision problems most often begin with difficulty seeing at night
tend to progress more slowly than those in type 1
onset of RP often not apparent until the teens.
night blindness usually begins sometime during puberty.
blind spots appear by the late teens to early adulthood
usually legally blind by mid adulthood.
Vestibular
function
(balance)
slow to sit without support
typically don’t walk independently before they are 18 months old.
normal
normal to near-normal, chance of later problems
Looking at hearing loss alone can’t tell if type 2 or 3
Like type 2 in childhood and type 1 in later adulthood
Focusing on the early years – most likely to be Usher Type 1.
and Claes Moller

16. Acquired Deafblindness
Acquired Deafblindness (Claes Moller)
80-90% of all causes are genetic
About 30 known Syndromes
Most have congenital deafness and progressive vision loss
Usher Syndrome – accounts for nearly 50% of cases with Deafblindness
8-10/100,000 newborns although recent research indicates that it could be as high as 15-21%.

17. Identification and Diagnosis
Claes Moller
This is changing.
This is the population in a Swedish Study. This graphs shows the high incidence of late diagnosis.

18. Early Diagnosis?
The median age of identification of congenital deafness will be lowered by Newborn Hearing Screening from 20 months to 3 months.
“At what stage should a deaf child be tested for a condition such as Usher syndrome for which there is no cure and which is likely to lead to a progressive loss of vision? What use is there in parents knowing that their two year old child is likely to begin to lose their vision in maybe five or even ten years’ time? Does it really help parents to make a decision whether or not to go ahead with a cochlear implant?”
Fiona Pearl

19. Who should know when?
“I think I would have preferred to have avoided the huge stress, depression and helplessness brought about by the diagnosis of my two year old son as having "retinal dystrophy most likely to be associated with Usher syndrome". This was as a result of the routine tests performed as part of his assessment for a cochlear implant.” Fiona Pearl

20. Hearing (Claes Moller)
Usher syndrome seems to affect the stereoceria of the hair cells, the hair bundles
Children with Usher Syndrome do well with cochlear implants
Children with Usher Type II do well with hearing aids

21. Usher Syndrome Identification of hearing loss Why is my child deaf?
Will I be able to communicate with my child?
Will my child speak?
Will my child sign?
Where will my child go to school?
Why is my child deaf?
Other children are sitting/walking.
Why isn’t my child?
What is wrong?
Will he or she ever walk?
5 stages of grief repeated for each diagnosis

22. Early Diagnosis? Can remove the concern about walking.
Your child may walk late, but they will walk…..
… because they eventually develop the muscle strength to offset the lack of vestibular function.
Physical activities can help children with vestibular abnormalities develop the strength and flexibility to participate in just about any activity.
Children are most successful when they develop muscle strength at a young age.
Parents should be aware of the safety risks associated with vestibular difficulties so they can compensate appropriately.
Mark Dunning

23. Understanding Balance
Stand, feet together, arms folded into body
Now close your eyes.
What did you notice?
Moving slightly to make postural adjustments
Repeat but with legs apart.
Adopting a wider base makes it easier to balance

24. Vestibular Organs
The inner ear contains two separate organ systems encased within a bony capsule
the cochlea for hearing
the vestibular organs for balance - semicircular canals , the utricle, and the saccule.

25. The Semicircular Canals
There are 3 semicircular canals in each ear.
Each canal works with a partner on the other side of the head.
The canals contain sensory hair cells that are activated by movement of inner ear fluid (endolymph).
One pair of canals is horizontal. The other two pairs are almost vertical at right angles to each other.
This means each of the 6 canals is best activated by a different direction of head rotation.
Nose and right ear up
Nose and left ear down
Left horizontal

26. The Utricle and Saccule
The ends of the semicircular canals connect with the utricle.
The utricle connects with the saccule.
The sensory hair cells of the utricle and saccule provide information to the brain
about the direction of movement (linear acceleration)
the head’s position in relation to gravity (which way is up).

27. The Balance System
The hair cells for both movement and static position create nerve impulses.
These impulses travel via the vestibular nerve to the brainstem, cerebellum and spinal cord.
This information triggers many reflexes including motor impulses to make postural adjustments.

28. Balance and Usher
Young children take longer to reach developmental milestones such as sitting unsupported and walking.
Children with Usher Type 1 don’t walk before 18 months.

29. Vestibular Ocular Reflex (VOR)
Another key reflex is the vestibular ocular reflex (VOR).
This reflex stabilizes the retinal image during rotations of the head.
Activity
Use a card with words on.

30. Vision and balance Stand, feet together, arms folded into body.
Challenge your balance - lift one leg. How many seconds can you maintain balance for?
Now close your eyes. How many seconds can you maintain balance for?
Try counting in 13s while standing on one leg.
We need postural security to think and learn.

31. gives the brain information on how we are upright in the environment
Equilibrial triad
The vestibular system
provides your brain with information about how you are moving your head
Triad of Equilibrium
Proprioception muscle stretch, joint position, tendon tension
tells the brain (cerebellum) information on where our body is in relationship to the environment.
Proprioception – close eyes, touch nose. Get up in night – reach to touch the light without looking. Reach to pick up something under the table and get back up without hitting head.
Vision
gives the brain information on how we are upright in the environment

32. The balance system A properly functioning balance system allows people
identify orientation with respect to gravity
determine direction and speed of movement
make automatic postural adjustments to maintain posture and stability
to see clearly while moving

33. Young children with balance difficulties
Vision and vestibular function help you interpret the right position to hold your body for the best balance.
If you lean forward or to the side you will eventually fall over.
Gymnasts can hold themselves in gravity defying positions because of their strength and flexibility.
Mark Dunning
If a child is born with or acquires a balance problem early in life it is likely that they will develop ways of compensating.
Usher syndrome Type I
Waardenburg syndrome (EVA)
Enlarged Vestibular Aqueduct
CMV
Meningitis
CHARGE syndrome

34. Balance difficulties In the dark
Prefer to roll rather than crawl, use a five-point crawl with heads to the ground.
May love twirling and merry-go-rounds because they can’t get dizzy.
Walks with no problems during the day but has difficulty walking in a straight line in the dark or wants to hold your hand.
May be anxious in the dark.
Because of the 3 systems of balance, we have quite a bit of information on how we are upright in space. If one or more systems have problems, we can still balance and walk.
In Usher Syndrome this is compounded by additional visual difficulties as a result of RP.

35. Vestibular System

36. Claes Moller urges to learn basic visual language
Fall back if CI fails and vision deteriorates
Don’t say no to anything

37. Usher Syndrome in the Early Years
I have needed the knowledge to
recognise ‘red flags’
answer parents’ questions
facilitate appropriate intervention
be up to date

38. Usher Syndrome Identification of hearing loss Why is my child deaf?
Will I be able to communicate with my child?
Will my child speak?
Will my child sign?
Where will my child go to school?
Why is my child deaf?
Diagnosis of Usher Syndrome
Will my child lose his or her vision?
What will happen to my child?
Other children are walking.
Why isn’t my child?
What is wrong?
Will he or she ever walk?
5 stages of grief repeated for each diagnosis

39. Adaptation and night vision
Understanding Vision
Page 5
Visual acuity: your central vision, the vision you use to see detail (eg reading, recognising faces)
Depending on the individual development of your child, these tests use cards with stripes, pictures, letters or numbers on them.
Visual field: how much you can see around the edge of your vision, while looking straight ahead (eg seeing objects on the floor, steps while walking)
Visual acuity
Visual field
Binocular vision
Colour vision
Adaptation and night vision

40. Understanding Vision
Page 5

41. The Eye
The retina at the back of the eye is a light-sensitive layer which consists of rod and cone cells. These cells collect the light signals directed onto them and send them as electrical signals to the optic nerve at the back of our eye.

42. Rod Cells
responsible for peripheral vision and the absorption of light during darkened conditions
concentrated around the edge of the retina.
help us to see things that aren't directly in front of us, giving us a rough idea of what is around us.
help us with our mobility and getting around by stopping us from bumping into a things.
also enable us to see things in dim light and to see movement.
Rods are good at seeing:
things that move (not directly in front of us)
in the dark
but only in black and white
and in less detail.

43. Cone Cells control central vision and differentiation between colours
are concentrated in the centre of our retina where the light is focused by the cornea and lens. This area is called the macula.
give us our detailed vision which we use when reading, watching TV, sewing and looking at people's faces.
Cones are good at seeing:
- things that are still
- in daylight
- in colour
- fine detail

44. Electrophysiological Tests
The challenge of testing a young infant's vision is that they cannot verbally communicate what they can and cannot see.
Electrophysiological testing is most helpful for testing youngsters for whom other vision tests give ambiguous or incomplete information about visual acuity.
The VEP and ERG provide information about what is happening at the physiological level and are thus especially important in the diagnosis of visual impairments in very young children.

45. Visual Evoked Potential (VEP)
Visual acuity = the ability to see fine detail and patterns
A ‘visual evoked response’ (VER) or ‘visual potential test’ is a record of the electrical activity in the brain as a response to stimulation of the retina.
These signals are recorded with electrodes lightly attached to the scalp at the back of the head while the child watches patterns on a computer screen.
measures the response of the brain to alternating black and white stripes or checks.
designed to find the finest black and white stripes that reliably produce a response
In adults and cooperative older children, visual acuity (the ability to see fine detail and patterns) is measured using a letter chart. For those who are unable to read the letter chart, the visual evoked potential (VEP) can be used.

46. Multifocal ERG (mfERG)
A new type of electroretinogram, called the multifocal ERG (mfERG), allows responses to be simultaneously recorded from multiple retinal areas using a stimulus array made up of black and white, flickering hexagons (a).
The results can be analyzed to provide a contour map (b) of the function of the center of the retina, called the macula. This is the specialized part of the eye that is used to read letters. It is also the last part of the retina to develop.
The child is positioned on the doctor's lap in front of a video monitor. The contact lens picks up electrical signals produced by the retina, following which a map of the functional integrity of the retina is plotted.

47. Electroretinogram (ERG)
evaluates the function of the retina
During the ERG test, the cells of the retina (rods and cones) release tiny amounts of electricity in response to flashes of light.
If we know exactly how much light enters the eye and how much electricity comes out, we can figure out how the rods and cones are working.
To pick up the electricity from the retina, a special contact lens is placed on the surface of the eye after eye drops have dilated pupils.
An ERG is one of the tests used to test for ‘Usher syndrome’.

48. Testing Visual Acuity
Depending on the individual development of the child, these tests use cards with stripes, pictures, letters or numbers on them.

49. Distance Vision (without correction)
Glasses prescriptions for myopia (short sighted) have a minus number.

50. Usually correctable with glasses or contact lenses.
Refractive Errors
Usually correctable with glasses or contact lenses.
Page 12

51. Visual Acuity (Distance Vision)

52. Near Vision Near vision is tested by using a test card.
Each eye is tested individually.
In a common test, N48 is the largest type, and N5 is the smallest, which an unimpaired eye can see, held at a comfortable reading distance, (usually 14 inches), from the eyes.

53. Partially sighted / Sight impaired
Visual acuity of 3/60 to 6/60 with full field of vision
Visual acuity of up to 6/24 with a moderate reduction of field of vision or with a central part of vision that is cloudy or blurry
Visual acuity of up to 6/18 if a large part of your field of vision (eg half) is missing or a lot of your peripheral vision is missing

54. Blind / Severely sight impaired
Visual acuity of less than 3/60 + full visual field
Visual acuity between3/60 and 6/60 + severe reduction of field of vision (tunnel vision)
Visual acuity of 6/60 or above + with very reduced field of vision, especially if a lot of sight is missing in the lower part of the field.

55. Visual field The normal human visual field extends
60 degrees nasally (toward the nose, or inward)
100 degrees temporally (away from the nose, or outwards)
60 degrees above
75 below the horizontal meridian.

56. How is the visual field tested?
Young children: With the child’s attention drawn to the front, have another person stand behind the child and slowly bring a toy on a stick (or something similar) into the right, left, top and bottom areas of the visual field. Observe and note the points at which the child becomes aware of the stimulus.
Older children: Both eyes look directly at a small spot in the centre of the perimeter while an object is presented to the periphery. The person indicates when the object is detected. The person's field is plotted on a sheet of paper. Testing with objects (or lights) of different size (or brightness) results in visual fields of different sizes.
The visual field is measured using a "perimeter".

57. Retinosa Pigmentosa
There a many varieties of RP, each with its own time of onset, degree of severity and set of symptoms. The overall uniting characteristic is the decay of photoreceptor cells, which are found in the retina and include two types – rods and cones.
Whereas these cells die off naturally in all people, those with RP do not generate new rods and cones as would a healthy retina. The result is a slow decay of vision.

58. Symptoms of Retinosa Pigmentosa
The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment.
Pigmentation starts in periphery and gets closer towards the central vision.
Decreased night vision
Light sensitivity
Bad adaptation when moving from bright to dark
Visual field loss (tunnel vision/blind spots)

59. Simulation of vision at 30-40 years
Usher Diagnosis
Most people with Usher Syndrome will have some residual vision will into adulthood
Simulation of vision at years
blind
Blind doesn’t usually mean no vision.

60. Genetic Testing

61. Recessive Genes Recessive means:
a person must inherit a change in the same gene from each parent in order to have the disorder
a person with one changed gene does not have the disorder, but can pass either the changed or the unchanged gene on to his or her child
With each birth there is
1-in-4 chance of having a child with Usher syndrome
2-in-4 chance of having a child who is a carrier
1-in-4 chance of having a child who neither has Usher syndrome nor is a carrier

62. Genes in Usher Usher Type 1 Usher Type 2 These can be tested.
It is possible to screen for Ushers using saliva or blood.
These can be tested.

63. Functional Sensory Assessment
Hearing
Vision
Smell
External senses
Distance senses
Touch
Taste
Near senses
Vestibular (the sense of movement)
Proprioceptive (the sense of body position)
Internal senses
What senses do we need to include
QUESTION what senses?
INTERNAL SENSES More info on next slide
Compensatory Strategies

64. Functional Sensory Assessment
What sensory information do I respond to?
Distance
Close
Vision
Hearing
Smell
Touch
Movement
- vestibular
- proprioception
Taste
What are my stronger sensory channels?
Do I respond more easily if sensory channels are combined?
What affects my ability to use my senses?
What affects my ability to use my senses?
Positioning
Medication
Health – epilepsy
Environmental conditions – ‘noise’

65. Nightblindness/Adaptation difficulties
Observe how the child reacts in varied and unfamiliar environments
When moving from a bright to a darker area
When moving from a dark to a bright environment
In different lighting conditions
What to look for
The child is clumsy, especially in low light
Unhappy in low light
Loses balance easily in the dark
Wants to hold your hand at dusk but not at other times
Changes from visual to tactual behaviour
Hesitates or becomes distressed
Anxious at night time
Can't see when coming in from bright sunlight
Trips over things when light changes or light is dim
Seems to have more difficulty locating and recognising things

66. Nightblindness/Adaptation difficulties
Stays near a light in a dark room or at night
Moves a speaker so light falls on face
May express a desire to enter a room before it is darkened (movie theater, etc.)
Avoids conversations in a darkened area
When walking along a road at night, may appear to stagger or lose balance after an oncoming car has passed
Has problems reading under some lights or in dimly lit areas
Squints and shades eyes in bright lights or fluorescent lighting - complains that the light hurts his/her eyes
Likes to wear sunglasses even in buildings, but especially in bright sunlight
Avoids going outside when the sun is very bright
May appear awkward when exiting from the inside to the outside of a building (when faced with bright light)
Catherine Southwell

67. Visual field
Observe how the child reacts in varied and unfamiliar environments
Unexpected changes of surface level or shade – for example, a step, or a change from hard floor to carpet?
Response to objects and people
Does the child ever fail to notice objects (on left, right, waist, above eye level)?
Does the child often bump into, or trip over things?

68. What to look for Anxious in narrow places
Tends to bump into door frames, people, tables, and chairs
Stumbles on stairs and curbs
Hesitates at the top or bottom of stairs
Trips over frequently
Startles easily
May appear to ignore others standing by his/ her side
Seems to hold eyes in a different direction when looking at some things (because of islands of vision)
Turns head a lot when looking
Uses finger to mark place while reading
Can't find small objects that have been dropped
Fails to glance at another person's hand waving from the side
Exhibits symptoms of anxiousness in new areas

69. Balance: What can we do?
Good balance is supported by having strong back and tummy muscles. Infants and children need constant activity to develop these areas.
Control lighting: fit blinds and dimmer switches, use night lights or lamps in hallways at night eg toilet training.
Stop to look.
Carry an LED torch.
Talk to parents about the risks of over-protection.
Supervise closely when swimming in case they become disorientated underwater
active sitting sitting on an unstable surface, such as an exercise ball
encouraging young children to lie across the ball and roll around, and to try sitting on it.

70. Night blindness/adaption: What can we do?
Good lighting without glare
Use night lights plugged into sockets to act as landmarks in dark areas or at night time in the bedroom
Use table lamps (with shades) in dark corners and to emphasis pieces of furniture that stick out into a room
Carry an LED torch
Prescription glasses with tinted photosensitive lenses
Wear a hat with a large brim

71. Night blindness/adaption: What can we do?
Give a running commentary on routes including landmarks – encourage child to remember the sequence. Use language to describe positions, directions, textures and distance
Talk explicitly about safety – she may not pick things up incidentally like other deaf children eg turning saucepans away, holding and passing scissors safely.
Teach the child to be orderly
Promote manual dexterity
Teach touch typing
Teach the child the language to explain needs to adults and friends. Encourage to accept and ask for help.

72. Certificate of Visual Impairment www.rcophth.ac.uk/standards/cvi
After assessment of your eye condition, the hospital consultant completes the CVI – certificate of visual impairment, which certifies that you are eligible to be registered by your local Social Care Services department as either blind or partially sighted.
Normally the consultant keeps one copy, you receive another and copies are sent, with your consent, to the Social Care Services department, your GP and the Census. This information is confidential and is not passed on to anyone without your permission.
Social Care Services departments have a statutory responsibility to maintain a register of blind and partially sighted people. Being registered as blind does not necessarily mean that the person is or ever will be totally without sight.
On receiving their copy of the CVI – certificate of visual impairment), a Rehabilitation Worker from Social Care Services will contact you to discuss your registration and advise you of services and benefits available to you. Registration is purely voluntary and you should be asked by the Local Authority if you wish to be registered.

73. Social care for deafblind children and adults
In June 2009 the Department of Health reissued a guidance for local authorities called 'Social care for deafblind children and adults' LAC(DH)(2009)6 under Section 7 of the Local Authority Social Services Act The guidance expects local authorities to provide support for deafblind people
The Deafblind Guidance expects local authorities to:
identify, make contact with and keep a record of the deafblind people locally
ensure that assessments are carried out by properly trained personnel
ensure that appropriate services are provided for deafblind people – remembering that individual services for people who are deaf or who are blind may not be appropriate for someone who is both deaf and blind
ensure that they have access to fully trained, one-to-one support workers if necessary
provide information in a suitable format which is accessible to deafblind people
ensure that a senior manager is given responsibility for deafblind services.

74. References
BATOD
Dunnings, Mark
Gallaudet University
Regional and National Summary Report of Data from the Annual Surveys of Deaf and Hard of Hearing Children and Youth (Number of children 3143)
Moller, Claes
Transcript:
Lecture:
NDCS Genetic Councelling
NDCS Fact Sheet
NDCS/SENSE Vision Care for Your Deaf Child
NIDCD National Institute on Deafness and other Communication Disorders
Pearl, Fiona But did I need to know? Talking Sense Vol 47 No1 Spring
Southwell, C (2003) Assessing Functional Vision – children with complex needs London: RNIB
University of Western Ontario
Online powerpoint: