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About Deafblindness

Deafblindness is a combination of sight and hearing loss that affects a person’s ability to communicate, to access information, and to get around.
Deafblindness is not simply Deafness plus blindness, rather it is a separate and unique disability. While a person who has either a sight or a hearing impairment will use the unaffected sense to compensate for the loss of the other, a person who is deafblind has insufficient sight or hearing to do this.

A person does not have to be totally deaf and totally blind to be considered deafblind – in fact, many people who are Deafblind have some residual vision and/or hearing.

Deafbindness can occur for a variety of reasons. Some people are born Deafblind while others loose one or both senses later in life, either suddenly or gradually.

Congenital Deafblindness

People who are congenitally Deafblind are hearing and vision impaired from birth. As a result, their communication and language skills can be limited and intellectual and other disabilities are often present. Some causes of Congenital Deafblindness include prematurity pre and post-natal complications, viral infections such as rubella and rare genetic conditions including CHARGE Syndrome.

Acquired Deafblindness

Acquired Deafblindness occurs when a person loses their vision and hearing, either gradually or suddenly, during development or in adulthood. While the diagnosis of sight and hearing loss can have a significant emotional impact, many people with acquired Deafblindness lead active, independent and fulfilling lives. Acquired Deafblindness can be related to a specific genetic condition from birth that wasn’t detected until later in life, or occur as a result of illness or an accident. Age-related Deafblindness is the most common cause of Acquired Deafblindness followed by Usher Syndrome.

A-Z of Causes and Conditions

Over 80 different causes and conditions of Deafblindness have been identified. Some of the most common causes are:

  • Age Related Deafblindness
  • Congenital Rubella Syndrome
  • CHARGE Syndrome
  • Usher Syndrome

Other conditions are outlined in the A-Z of Deafblindness

Age Related Deafblindness

Acquired Deafblindness in old age represents by far the largest group within the Deafblind population. International research suggests that over two-thirds of people with a combination of vision and hearing loss are over the age of 70. In Ireland, 1050 of the 1749 people with a combination of serious vision and hearing impairments are over the age of 65.

As a person ages their ability to hear and see well can gradually become compromised.

Older people often consider hearing and sight loss as a natural part of the ageing process and as a result, don’t always see themselves as ‘Deafblind’. Acquired Deafblindness is also likely to be under diagnosed and in some cases the impact of dual sensory loss can be confused with cognitive decline or dementia.

As people live longer and the number of older people rises, so too will the number of people who are Deafblind. It is important that older people have access to supports that will help them to adjust to dual sensory impairment and will enable them to live independent and fulfilling lives.

If you are an older person who has a combination of vision and hearing difficulties click here to find out more about how we can help support you.

Congenital Rubella Syndrome

Rubella is a mild and preventable disease caused by a virus. Symptoms include swollen glands, a slight temperature, or a sore throat and rash. If a woman contracts Rubella in the early stages of pregnancy however, her baby can be affected by a condition known as Congenital Rubella Syndrome (CRS). The condition can impact on a child’s ability to see and hear and also cause developmental delay.

Congenital Rubella Syndrome was once the leading cause of Deafblindness around the world but the availability of the MMR vaccine, since 1971 onwards, has resulted in a dramatic decrease in the number of children being born with CRS. In the UK, fewer than 3% of women are now susceptible to being infected by Rubella and in Ireland the number of reported cases of Rubella has fallen from 3304 in 1961 to 4 in 2011.

CHARGE Syndrome

CHARGE is a rare condition that can affect different parts of the body. The most common problems are with the eyes, ears, heart, nasal passages, feeding and growth – although the condition, and its severity, does vary from person to person.

The name ‘CHARGE’ was first used in 1981 to refer to a newly recognised cluster of features seen in a number of children. Over the years, it has become clear that CHARGE is a Syndrome and at least one gene causing CHARGE Syndrome has been discovered. The letters in CHARGE were originally used to describe some of the typical features of the syndrome as follows:

Coloboma of the eye, (This is an eye deformity where part of the eye has failed to develop  properly and is missing) Heart Defects, Atresia of the choanae, (This is a closure of one, or both, of the openings at the back of the nose.) Retardation of growth and/or development,  Genital and/or urinary abnormalities, and Ear Abnormalities and Deafness

It estimated that 4 – 6% of the Deafblind population are Deafblind as a result of CHARGE Syndrome.

In Ireland, more than 10 families affected by CHARGE have recorded their details on the National Registry of People who are Deafblind established in 2014.

Despite the many obstacles that face children diagnosed with CHARGE Syndrome many go on to lead full and active lives.

To find out more about the services we provide for people with CHARGE Syndrome or join our online parent support group click here

Sense, the UK’s leading Deafblind charity, have produced an invaluable information pack complete with a number of helpful factsheets for families affected by CHARGE. To access the information pack click here.

Usher Syndrome

Usher Syndrome is now the most common cause of Deafblindness worldwide, after age-related Deafblindness. Typically, a person with Usher Syndrome is born Deaf or Hard of Hearing and experiences progressive sight loss due to Retinitis Pigmentosa (RP). Symptoms include night blindness a gradual narrowing of visual field and eventual loss of sight. The severity of the deterioration and speed that sight loss progresses varies from person to person.

Three subtypes of the condition Usher Syndrome have been found and can be explained as follows;

 

Hearing Vision Balance
Usher I Usually Profoundly Deaf from Birth (often become sign language users) Start to lose vision early in childhood Experience difficulties with balance
Usher II Experience hearing loss but are not profoundly Deaf (often use hearing aids/ Cochlear implants to improve hearing) Gradual loss of vision (typically beginning in the teenage years) No noticeable problems with balance.
Usher III Not always born with hearing difficulties but experience a gradual loss over time Loss of vision is gradual over time Balance may or may not be affected

What is Retinitis Pigmentosa (RP)?

The eye is often compared to a camera. The front of the eye contains a lens that focuses images on the inside of the back of the eye. This area, called the retina, is covered with special nerve cells that react to light.

These nerve cells include the rods and cones. The rods and cones react to light because they contain pigments that change colour when light strikes them. In some people, however, there is a problem with these pigments. The rods (and sometimes the cones) gradually stop working, and the retina begins to deteriorate and cause difficulty with vision. (http://my.clevelandclinic.org/services/cole-eye/diseases-conditions/retinitis-pigmentosa)

How Common is Usher Syndrome?

Approximately 3–6% of all children who are deaf and another 3–6% of children who are hard-of-hearing have Usher syndrome. Studies performed in Northern Europe have revealed rates of 3.5 per 100,000 (Finland) and 6.2 per 100,000 (Heidelberg, Germany). In the United States, about 4 in every 100,000 births have Usher syndrome. To put the figure in context, it is interesting to note that 2 in every 100,000 people are diagnosed with Motor Neuron Disease – the cause for which the Ice Bucket Challenge was dedicated in 2014.

If the 4 in every 100,000 formula is applied to Ireland, almost 300 people are estimated to be affected by the syndrome.

What can a person with Usher Syndrome see?

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What Causes Usher Syndrome? The Sciencey Part!

A gene is an ‘instruction’ made from the chemical DNA which tells the body to make something (a protein). We have 20,000 pairs of genes in every cell of our bodies and we have millions and millions of cells. This means that we cannot remove a ‘bad’ gene and replace it with a ‘good’ gene.

u3Scientists have identified more than 10 different genes that can cause Usher Syndrome. Each person inherits two copies of each gene, one from each parent. A ‘misprint’ (a gene ‘mutation’) in both copies of any one of those 10 genes means that the correct protein that is needed in cells of the inner ear and in the retina is not made in the body.

Usher syndrome is inherited as a recessive trait which means that an individual must receive a mutated form of the Usher syndrome gene from both parents. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. Usually, parents who have normal hearing and vision do not know if they are carriers of an Usher syndrome gene mutation.

Chances of inheriting a recessive disorder

An individual who has one changed Usher Syndrome gene is called a carrier. When two carriers of the same Usher Syndrome gene have a child together, with each birth there is a:

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

How is Usher syndrome diagnosed?

Because Usher syndrome affects hearing, balance, and vision, diagnosis of the disorder usually includes the evaluation of all three senses. Evaluation of the eyes may include a visual field test to measure a person’s peripheral vision, an electroretinogram (ERG) to measure the electrical response of the eye’s light-sensitive cells, and a retinal examination to observe the retina and other structures in the back of the eye. A hearing (audiologic) test can measure how loud sounds at a range of frequencies need to be before a person can hear them and an electronystagmogram (ENG) can measure involuntary eye movements that could signify a balance problem.

Genetic Testing

Since scientists have identified a number of genes associated with the condition, genetic testing can now offer a definitive diagnosis of Usher Syndrome. The test can provide an individual or their parents with the satisfaction of understanding the cause of certain physical issues. It can also be useful when making reproductive choices because once a genetic cause is identified it is then possible to predict the likelihood that future children will also have Usher Syndrome. In general, how people use genetic information will vary widely depending upon individual perspectives about hearing loss, religious beliefs and other factors. It is important that anyone considering genetic testing is informed about the benefits and drawbacks. To find out more about genetic testing in Ireland please visit http://www.genetics.ie/clinical/

Is there a cure?

Currently, there is no cure for Usher syndrome. However, scientific researchers around the world are making significant advances in treating hearing loss and the retinal degeneration experienced by people with Usher Syndrome.

There are also a growing number of treatments available that facilitate people with Usher Syndrome to live independent and fulfilling lives. The exact nature of these treatments will depend on the severity of the hearing and vision loss as well as the age and abilities of the person. Typically, treatment will include hearing aids, assistive listening devices, cochlear implants, or other communication methods such as Irish Sign Language; orientation and mobility training; and communication services and independent-living training that may include Braille instruction, low-vision services, or auditory training.

To learn more about how people who are Deafblind communicate click here.

Potential Treatments and Research

Research into an effective treatment for Usher Syndrome is focused on four main areas, gene therapy, retinal implants, stem cell therapy and drug-based therapy. For more information on these please visit http://www.usher-syndrome.org/index.cfm/pid/10257

Technological advances in the last few decades have also greatly enhanced the range of communication devices and aids available to people with vision and hearing difficulties.

Services and Supports

The Anne Sullivan Centre is committed to developing accessible, inclusive and worthwhile training and support programmes for people with Usher Syndrome in Ireland. We are particularly interested in engaging with people who have Usher Syndrome and their families to ensure that they can contribute to the development of programmes to meet their needs. If you would like to get involved please contact cmcdonald@annesullivancentre.ie or click on the Join our Registry link and add you details.

International Support: The Usher Coalition

The Usher Syndrome Coalition’s was set up to raise awareness of Usher Syndrome and accelerate research for the most common cause of combined deafness and blindness. The coalition maintains a registry of people affected by the condition, which aligns over 650 people with Usher Syndrome across 37 countries, including Ireland.

According to the coalition, the greatest fear expressed by researchers working to find a cure for Usher Syndrome is not that they will fail to find treatments. They are confident that they will. It’s that they will fail to get them through clinical trials because they are not connected with enough Usher families. Building the Usher Syndrome Registry is a crucial step towards resolving this problem. If you would like to Join the Registry please click here.

A-   Z of Causes and Conditions associated with Deafblindness

A

Aicardi syndrome
Alport syndrome
Alström syndrome
Apert syndrome


B
Bardet-Biedl syndrome
Batten disease


C
CHARGE syndrome
Chromosome 18
Cockayne syndrome
Cogan’s syndrome
Congenital rubella syndrome
Cornelia de Lange syndrome (CdLs)
Craniosynostosis (Aipert, Crouzon and Pfeiffer)
Cri du chat syndrome
Cytomegalovirus (CMV)


D
Dandy-Walker syndrome
DIDMOAD (Wolfram syndrome)
Down syndrome


F
Flynn Aird syndrome
Foetal Alcohol syndrome
Friedreich’s Ataxia (also known as Spinocerebellar degeneration)


G
Goldenhar syndrome


K
Kearns-Sayre syndrome
Kniest dysplasia


M
Marfan syndrome
Marshall syndrome
Marshall-Smith syndrome
Meningitis (viral and bacterial)
Metachromatic leukodystrophy (MLD)
Moebius syndrome (also known as Möbius syndrome)
Mohr-Tranebjaerg (also known as Deafness-Dystonia-Optic Neuronopathy syndrome)


N
Neurofibromatosis Type 2
Norrie disease


P
Pallister Killian mosaic syndrome
Peroxisomal disorders (including Refsum Disease, Zellweger syndrome and Infantile Adrenoleukodystrophy)
Pierre-Robin syndrome


S
Stickler syndrome
Sturge-Weber syndrome


T
Treacher Collins syndrome
Trisomy 13 (also known as Patau syndrome)


U
Usher syndrome


W
Waardenburg syndrome
Wildervanck syndrome
Wolf-Hirschhorn syndrome (Trisomy 4p)

How Do People Who are Deafblind Communicate?

Deafblind people have many different ways of communicating. The methods they use vary, depending on the causes of their combined vision and hearing loss; their backgrounds; their education; their ability to rely on residual vision or hearing and whether they had acquired language before becoming Deafblind.

Some of the ways people who are Deafblind communicate include:

  • Irish Sign Language (ISL),
  • Lámh,
  • Hand-over- hand/ tactile sign language
  • Tactile Fingerspelling
  • PECs or Pictures,
  • Objects of Reference / Concrete Symbols,
  • Swell Symbols,
  • Braille,
  • Tadoma,
  • Technological communication aids

Many congenitally deafblind people with no formal verbal communication methods also use non-verbal improvised forms including:

  • Gestures
  • Vocalisation
  • Pointing
  • body movements; and
  • imitation;

Irish Sign Language (ISL)

Irish Sign Language (ISL) is the language which the majority of Deaf people use in the Republic of Ireland. Other forms of ISL include Signed English, Cued Speech and the use of speech. However, these other forms are not representative of  natural ISL because all of your body, hands and facial expressions are all used in ISL but are not in the other forms. ISL is a very visual language which has its own grammar and structure. ISL is more similar to French and American Sign Languages than it is to British Sign Language! BSL is to ISL what English is to Japanese!

Resources:

http://www.irishdeafyouth.com/about-us/irish-sign-language/

http://www.learnirishsignlanguage.ie/

https://www.tcd.ie/slscs/faqs/irish-sign-language/

http://www.irishdeaf.com/

http://www.cslstudies.com/

Lámh

Lámh is a manual sign system used by children and adults with intellectual disability and communication needs in Ireland. For more information visit http://www.lamh.org/

Hand-over- hand/ tactile sign language

Tactile or hand-over-hand sign language is when the Deafblind person put his or her hands over the signer’s hands to feel the shape, movement and location of the signs. Some signs and facial expressions may need to be modified and one-handed or two-handed tactile sign language can be used.pic

People who grew up using ISL in the deaf community may prefer tactile ISL, while others who came from an oral background or learned signs later may prefer a more English-based tactile system.

Tactile Fingerspelling

Usually blind or visually impaired people who lose their hearing later, or deaf or hard of hearing people who have depended on their speech reading and do not know how to sign, prefer tactile fingerspelling because sometimes sign language can be difficult to learn. The Deafblind person may prefer to put his or her hand over the fingerspelling hand, or on the signer’s palm, or cup his or her hand around the signer’s hand.

PECs or Pictures

The Picture Exchange Communication System (PECS) teaches people who are Deafblind with some usable vision to communicate what they would like by choosing pictures from an array of options. The system then goes on to teach how to put the pictures together in sentences, answer questions and comment.

A number of computer apps have been developed to enable people with communication needs to use mobile phones, tablets and computers to access a large range of PECS instantly.

Objects of Reference / Concrete Symbols

An ‘object of reference’ is, as the name implies, an object which has a particular meaning associated with it.  For example, a fork may be the object of reference for dinner.  The object is closely associated with and comes to represent another object, an activity, a person or an event.  These objects give a person who is Deafblind information about what is going to happen if they are used consistently.

20140410_100010

Braille

brailleBraille is writing system which enables blind and partially sighted people to read and write through touch. It consists of patterns of raised dots arranged in cells of up to six dots in a 3 x 2 configuration. Each cell represents a letter, numeral or punctuation mark. Some frequently used words and letter combinations also have their own single cell patterns.

 

Swell Symbols

Swell symbols are tactile, raised line drawings that allow people who are blind or vision impaired to feel maps and graphics with their fingertips. To create Swell Symbols, pictures are printed on to specialist paper, through a standard printer or photocopier and are then run through a Swell-form Graphics Machine. The black ink then reacts to heat inside the machine and swells to create a tactile image. Tactile images can then be used, in a similar way to PECS for people who are Deafblind to communicate what they want or plan the day ahead. 

Tadoma

This method of communication, famously used by Helen Keller and Anne Sullivan, allows Deafblind people with little or no usable vision to speech read another person by touch. The Deafblind person puts their thumb on the other person’s chin, and their fingers on the other person’s cheek to feel the vibrations of the person’s voice and the movement of their lips. This method is rarely taught or used nowadays.

To watch Anne Sullivan speak about teaching Helen Keller to communicate using Tadoma click here.

Technological communication aids

Scientists and engineers all over the world are working on developing new ways to make the world more accessible to people who are Deafblind. These range from low tech devices such as a vibrating doorbell or smoke alarm to more hi-tech devices such as the U2 MINI and the Lorm Glove.

brailleThe U2 MINI allows people who are Deafblind to communicate with users with sight and hearing. Using the system, text sent from an iOS device (iphone or tablet) appears on the U2 Mini’s braille display; characters typed on the U2 appear on the iOS device’s screen. In addition, Sense Chat facilitates deafblind communication between two Braille Sense product users. The vibrating motor enables users to set alerts and alarms that vibrate, emit sound, or both, providing privacy and accessibility to persons who are deafblind.

Lorm Glove

lorm_gloveThe Mobile Lorm Glove is a mobile communication and translation device for deafblind persons. The glove translates the hand-touch alphabet “Lorm”, a common form of communication used by people with both hearing and sight impairment, into text and vice versa.

Textile pressure sensors located on the palm of the glove enable the deafblind user to “lorm” onto his or her own hand to compose text messages. A Bluetooth connection transmits the data from the glove to the user’s handheld device. It is then automatically forwarded to the receiver’s handheld device in the form of an SMS. If the wearer of the Mobile Lorm Glove receives a text message, the message will be forwarded via Bluetooth from his/her handheld device to the glove. Initiated by small vibration motors located on the back of the glove, tactile feedback patterns allow the wearer to perceive incoming messages.

Deafblindness is a low-incidence disability. However, it is becoming more common as a result of the ageing population and the increased number of children surviving prematurity.

In Ireland, 1,749 people were recorded on the National Census 2011 as having a combination of Blindness or serious vision impairment and Deafness or a serious hearing impairment. A further 10,365 reported experiencing a combination of vision and hearing loss with one other disability or more. According to the European Deafblind Network, this underestimates the number of people affected by the disability. They argue that when people with less severe impairments of vision and hearing are included the figure is closer to 17,209 people in Ireland.

Details about the number of people who reported having a combination of serious vision and hearing loss in your area are available in the Report into Deafblindness in Ireland. Click here to download the report in full.

Deafblindness is not simply Deafness plus blindness, rather it is a separate and unique disability that affects a person’s overall ability to get around, access information and communicate.

Because one sense cannot adequately compensate for the loss of another, people who are Deafblind face unique challenges.

EU Context

On the 1st of April 2004, the EU recognised Deafblindness as a distinct disability in Written Declaration 2004/1.

Declaration of the European Parliament on the rights of deafblind people
The European Parliament,–   having regard to Rule 51 of its Rules of Procedure,–   having regard to Article 13 of the EC Treaty and the principle of human dignity,A.   whereas deafblindness is a distinct disability that is a combination of both sight and hearing impairments, which results in difficulties having access to information, communication and mobility,B.   whereas there are about 150 000 people in the European Union who are deafblind,C.   whereas some of these people are completely deaf and blind, but most have some remaining use of one or both senses,D.   whereas, having a distinct disability, deafblind people need specific support provided by people with specialist knowledge,1.  Calls on the institutions of the European Union and the Member States to recognise and implement the rights of people who are deafblind;2.  Declares that deafblind people should have the same rights as are enjoyed by all EU citizens; these should be enforced by appropriate legislation in each Member State and should include:

  the right to participate in the democratic life of the European Union;
  the right to work and access training, with appropriate lighting, contrast and adaptations;
  the right to person-centred health and social care;
  the right to lifelong learning;
  the right to receive one-to-one support where appropriate from communicator-guides, deafblind interpreters and/or intervenors;

So far, eight member states including the UK, France, Sweden, Denmark, Romania, Italy, Spain and Austria have adopted the Declaration.

The Anne Sullivan Centre, in association with other Deaf and blind organisations, medical professionals and advocates for people who are Deafblind, are currently campaigning for Written Declaration 2004/1 to be adopted by the Irish Government. If you would like to lend your voice to the campaign please contact cmcdonald@annesullivancentre.ie

International Context: The UN Convention on the Rights of People with Disabilities

Since 2006, 151 countries worldwide have ratified the UN Convention on the Rights of People with Disabilities. The Convention is the first legally binding instrument with comprehensive protection of the rights of persons with disabilities.  Significantly, it recognises deafblindness as a distinct disability stating that:

“Parties shall enable persons with disabilities to learn life and social development skills to facilitate their full and equal participation in education and as members of the community including:

(c) Ensuring that the education of persons, and in particular children, who are blind, deaf or deafblind, is delivered in the most appropriate languages and modes and means of communication for the individual, and in environments which maximize academic and social development”.

Ireland is one of only eight of the 159 countries who have failed to ratify the Convention.

In 2014, the Anne Sullivan Centre, in association with Deafblind Ireland, published the first large-scale research into Deafblindness in Ireland. The research revealed the following key findings:

  • At least one third of the Deafblind population are over the age of 65, representing the largest diagnostic group within the Deafblind population
  • Age-Related Deafblindness, Usher Syndrome, CHARGE Syndrome and Congenital Rubella Syndrome are the leading causes of Deafblindness in Ireland.
  • Almost 20% of the Deafblind population have a diagnosis of Usher Syndrome. Of these, less than one quarter are engaged with a service provider.
  • 90% of Deafblind children and young adults have one or more additional disabilities.
  • Almost two-thirds of people who are Deafblind live with family. Fewer than 15% live alone and almost 20% live in a residential care facility.
  • 55% of people who are Deafblind are not in receipt of any services.

To download the report in full Click here.

Anne Sullivan Foundation for Deafblind People

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