Usher syndrome

Working with families in the Early Years

Wendy PallantTeacher of the MultiSensory Impaired and Teacher of the Deaf

wendy@pallant.infowww.schooltrain.info

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 2004. Qualified as a Teacher of MultiSensory Impaired in 2008

MultiSensory Impaired/Deafblind

A continuum of loss

•varying degrees of visual and hearing impairment

•perhaps combined with learning difficulties and physical disabilities

Department of Education (DES) Policy Statement "Educational Provision for Deafblind Children“ (1989)

Persons are regarded as deafblind/MSI if their combined sight and hearing impairment cause difficulties with

• communication • access to information• mobility

Department of Health

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:

http://www.sense.org.uk/OneStopCMS/Core/CrawlerResourceServer.aspx?resource=2C50A00D-845A4CECA5D128C72ECA2DC4&mode=link&guid=f63692af3f734c478df94b1d850903df

QTMSI Inputmay 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 QTMSISpecialist 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

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

Supporting parents

Why is my child deaf?

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?

Levels of Hearing Loss

Normal Hearing Mild (20-40dB)

Moderate (41-70dB) Severe (71-95dB) Profound (95+dB)

Speech banana

Vision and DeafnessQuality standard 10Following 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 13Ideally 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.

Childhood deafness

NDCS Genetic Counselling p11

Claes Moller 80-100 different syndromes

Often presents as non-syndromic

Syndromic and Genetic DeafnessWaardenburg

syndrome

Usher syndrome

Treacher syndrome

Dow n syndrome

CHARGE sydnrome

Chromosome abnormality

Connexin-26

Other

Gallaudet University: 2004-5 (Number of children 3143)

Too small

Incidence of Usher Syndrome Claes Moller (2009)

10% of children referred for Cochlear Implant

  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 lossmay 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.

the rate at which they decline can vary from person to person, even within the same family. 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

http://www.nidcd.nih.gov/health/hearing/usher.asp and Claes Moller

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%.

Identification and Diagnosis

This is the population in a Swedish Study. This graphs shows the highincidence of late diagnosis.

Claes Moller

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

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

Usher Syndrome

Why is my child deaf?

Identification of hearing loss

• Will I be able to communicate with my child?

• Will my child speak?

• Will my child sign?

• Where will my child go to school?

• Other children are sitting/walking.

• Why isn’t my child?

• What is wrong?

• Will he or she ever walk?

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

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.

• What did you notice?

• Adopting a wider base makes it easier to balance

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.

The Semicircular Canals

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.

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).

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).

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.

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.

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

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.

Equilibrial triad

Triad of Equilibrium

The vestibular system provides your brain with

information about how you are moving your head

Vision gives the brain information on how we are upright in

the environment

Proprioception muscle stretch, joint position, tendon tensiontells the brain (cerebellum) information on where our body is in relationship to the environment.

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

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

Why is my child deaf?

Identification of hearing loss

• Will I be able to communicate with my child?

• Will my child speak?

• Will my child sign?

• Where will my child go to school?

• Other children are walking.

• Why isn’t my child?

• What is wrong?

• Will he or she ever walk?

Diagnosis of Usher Syndrome• Will my child lose his or her vision?

• What will happen to my child?

Understanding VisionPage 5

Visual acuity Visual field

Adaptation and night vision

Binocular vision

Colour vision

Understanding Vision

Page 5

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.

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.

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

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.

Visual Evoked Potential (VEP)

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

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.

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.

Electroretinogram (ERG)

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’.

evaluates the function of the retina

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

Distance Vision (without correction)

Glasses prescriptions for myopia (short sighted) have a minus number.

Refractive Errors

Page 12

Usually correctable with glassesor contact lenses.

Visual Acuity (Distance Vision)

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

Blind / Severely sight impaired

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.

Visual acuity of less than 3/60 + full visual field

Visual fieldThe 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.

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".

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.

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. www.nidcd.nih.gov/health/hearing/usher.asp

• Decreased night vision • Light sensitivity• Bad adaptation when moving from bright to dark • Visual field loss (tunnel vision/blind spots)

Usher Diagnosis

Blind doesn’t usually mean no vision.

blind

Most people with Usher Syndrome will have some residual vision will into adulthood

Simulation of vision at 30-40 years

Genetic Testing

Recessive Genes

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

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

Genes in Usher

Usher Type 1

Usher Type 2

These can be tested.

Functional Sensory Assessment

1. Hearing

2. Vision

3. Smell

6. Vestibular (the sense of movement)

7. Proprioceptive (the sense of body position)

4. Touch

5. Taste

Distance senses

Near senses

External senses

Internal senses

Compensatory Strategies

Functional Sensory Assessment

• What sensory information do I respond to?

Distance CloseVision

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?

Nightblindness/Adaptation difficulties

Observe how the child reacts in varied and unfamiliar environments1. When moving from a bright to a darker area 2. When moving from a dark to a bright environment3. 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

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) http://www.tsbvi.edu/Outreach/deafblind/usher.htm

Catherine Southwell

Visual field

Observe how the child reacts in varied and unfamiliar environments

1. Unexpected changes of surface level or shade – for example, a step, or a change from hard floor to carpet?

2. 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?

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

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

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

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.

Certificate of Visual Impairmentwww.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.

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 1970. 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.

• BATOD www.batod.org.uk/index.php?id=/articles/teaching/archive/peripatetic.htm• Dunnings, Mark http://ushersyndromeblog.blogspot.com/• Gallaudet University

– Regional and National Summary Report of Data from the Annual Surveys of Deaf and Hard of Hearing Children and Youth 2004-5 (Number of children 3143)

• Moller, Claes – Transcript: www.earfoundation.org.uk/downloads/deafblindness_issues_moller.pdf– Lecture: www.hearingseminars.com/p73458875/

• NDCS Genetic Councelling www.ndcs.org.uk/document.rm?id=3168• NDCS Fact Sheet

http://www.ndcs.org.uk/family_support/our_publications_m/balance_disorders.rma• NDCS/SENSE Vision Care for Your Deaf Child

– www.ndcs.org.uk/search_clicks.rm?id=3412&destinationtype=2&instanceid=157905• NIDCD National Institute on Deafness and other Communication Disorders

– www.nidcd.nih.gov/health/hearing/usher.asp• Pearl, Fiona But did I need to know? Talking Sense Vol 47 No1 Spring 2001

www.sense.org.uk/publicationslibrary/allpubs/talking_sense/tsarticles/2001/cochlear• Southwell, C (2003) Assessing Functional Vision – children with complex needs London: RNIB• University of Western Ontario

– Online powerpoint: www.physpharm.fmd.uwo.ca/undergrad/sensesweb/L10Balance/L10Balance.swf

References