10th international cochlear implant day!

Today, 25th February 2014 marks the 10th international cochlear implant day. 25th February was named international cochlear implant day by the Spanish association of cochlear implants, with the first day being help in 2005.

On the 25th February 1957 two French doctors were the first people to electrically stimulate the auditory nerve by placing an electrode outside the cochlear. 21 years later, in 1978 Dr. Graeme Clark conducted the 1st ever cochlear implant, on Rod Saunders, who had lost his hearing in an automobile accident.

Between 1985 and 1986 with first two children received cochlear implants as the Royal Victorian Eye and Ear hospital. They were again conducted by Dr. Clark, with the recipients being Scott Smith (10) and Bryn Davies (5).

In 1998 the first muti-channel cochlear implant was developed. It was named the ESPrit and consisted of a speech processor worn entirely behind the ear, free from long cables and extra components.
And finally in 2010, Jack Walley, aged 102, became the oldest cochlear implant recipient, having received his implant in 1991 when he was 83.

So, the technology has come a long was in the 60 years since Djourno and Eyres, and today on international cochlear implant day it is a time to celebrate that and the difference it has made to people’s lives all around the world!

Medical condition of the week – Usher syndrome

My inspiration for writing this medical condition of the week comes from a friend of mine. Her cello teacher has a son, Charlie, who has Usher syndrome, yet he has not let it get the better of him, and has still learnt to play the violin despite being profoundly deaf. Charlie has Usher syndrome type 1 – the most severe form, yet him and his family are really and inspiration to all. (You can read Charlie’s story and watch the video by following the 1st link of the sources)

Usher syndrome is one of the most common syndrome effecting hearing and vision and is estimated to occur in 1 in 65,000 births. Usher syndrome is a recessive genetic condition which as of May 2012 is linked to 12 genes. The condition causes both retinitis pigmentosa (RP) which causes the vision impairment and sensori-neural deafness, deafness caused by a problem with the inner ear or the auditory nerve; and can also be linked to balance problems.

There are three types of Usher syndrome, with type 1 (USH1) and type 2 (USH2) being the most common, accounting for approximately 95% of people in the UK affected by Usher syndrome.

Usher type 1 (USH1) is often thought of as the most severe form of the condition. Most children with USH1 are profoundly deaf from birth and sever balance problems, and so many children with USH1 will use sign language as their main form of communication. In the past it was thought that hearing aids were very little benefit to children with USH1, however more recently the use of cochlear implants have been used successfully in children with USH1, making it easier for them to develop speech. The problems with balance can mean that young children with USH1 are delayed with milestones such as sitting up and walking. The vision problems related to retinitis pigmentosa tend to begin in children with USH1 around the ages of 8-12. It is usually problems with vision at night that are first noticed, followed by difficulty with peripheral vision. Unfortunately, usually these visual problem continue to progress until vision is very limited.

Usher type 2 (USH2) is normally categorised with severe hearing impairments at birth and normal balance. The severity of the hearing impairments greatly varies with most children using speech for communication, however most children with USH2 benefit from the use of hearing aids. The retinitis pigmentosa (RP) tends to progress more slowly in USH2 than in USH1, with vision problems usually beginning in late teenage years. However, it is not unheard of for vision problems to not begin until a person reaches their 30’s or 40’s. This is because the RP is so variable from person to person, so the rate of decline of vision cannot be known for sure.

Usher type 3 (USH3) is much rarer than the other types of Usher syndrome. Children born with USH3 have normal hearing which worsens over time, sometimes progressing to profound hearing loss. The vision problems normally begin in the teenage years, however, like with USH2 this can be very variable, even within the same family. Some people with USH3 can also develop balance problems over time, however this again is variable.

As Usher syndrome is a genetic condition there is no current treatment for the condition. However, the hearing impairments can often be aided with technology such as hearing aids or cochlear implants or through the use of alternative communication such as sign language or PECS (picture exchange communication system). Glasses can help with the early stages of vision problems, however as vision deteriorates if sign language is used, this can be adapted to hands-on signing, where the person places their hands on the signs of the signer to feel the signs being used.

Meeting other people with the condition has also been proven to help people with Usher syndrome and their families, particularly, as with Usher syndrome people can feel very isolated as they have to deal with changing vision and/or hearing. In the UK there are many support groups set up in different areas.

As Usher syndrome is a genetic condition there is hope for more research in the future that gene therapy or similar procedures could provide a cure for this condition.

Overall, Usher syndrome can be a very cruel condition as it takes away both hearing and vision from children. However, as with everyone your life is what you make of it! And going back to my inspiration for this blog, having Usher syndrome does not have to stop you from doing anything!

Source:
http://www.telegraph.co.uk/news/uknews/10503037/Charlie-the-boy-who-beat-deafness-to-play-the-violin.html
http://www.sense.org.uk/content/usher-syndrome
http://www.rpfightingblindness.org.uk/index.php?tln=aboutrp&pageid=87
http://www.rpfightingblindness.org.uk/index.php?tln=aboutrp&pageid=87

Medical condition of the week – Trisomy 21 (Down’s syndrome)

The actual medical condition of the week for this week is Trisomy 21. Although Trisomy 21 is used interchangeably with Down syndrome, it actually equates for approximately 94% of cases of Down syndrome. Trisomy 21 is the addition of an extra chromosome 21, so babies born with this form of Down syndrome have 47 chromosomes rather than 46. Other forms of Down syndrome include Translocation, where the extra chromosome 21 materials is attached onto another chromosome, accounting for about 4% of cases and mosaic where only some cells in the body have the extra chromosome, found in about 2% of cases. Overall, Down syndrome is one of the most common genetic disorders, affecting approximately 1 in 650-1,000 babies. However, the chance of having a baby with Down syndrome increases with age from about 1:385 when the mother is 35, to 1:30 when the mother is 45. However, it is important to stress that mothers of any age can have a child with the condition.

However, despite the different causes the symptoms of Down syndrome are very similar, and the condition is generally categorised by learning difficulty, and certain facial features. The symptoms of the condition are different for every person with the condition and can range from mild to severe. One of the most frequently noticed features is hypotonia, or reduced muscle tone which can lead to “floppiness”. This is sometimes also twinned with hypermobility in the joints (see previous post on JHS for more info on this!). Due to this hip dislocations and other joint issues such as scoliosis and foot deformities are common. The physical development of children with Down syndrome is often delayed, and most children never reach their adult height and weight.

Individuals with Down syndrome also often have similar facial features, including a flattened nose, small ears and moth and upward slanting eyes. The inner corner of the eyes may be rounded instead of points with white spots on the coloured parts of the eye.

Children with Down syndrome also may have delays in social and cognitive development. These include impulsive behaviour, poor judgement, short attention span and learning difficulties. Some children with the condition are also diagnosed with conditions such as ADHD (attention deficit hyperactivity disorder), ADD (attention deficit disorder) and ASD (Autism spectrum disorder). Seizures also occur in 5-10% of people with Down Syndrome.

There are also other medical conditions which are associated with Down syndrome, these include; congenital heart defects such as atrial septal defect or ventricular septal defect. It is also thought that approximately 90% of people with Down syndrome have some form of hearing loss, and problems with vision such as cataracts and congenital glaucoma are also relatively common. Other conditions such as gastrointestinal disorders, hypothyroidism, sleep apnoea and dementia have also been linked to Down syndrome.

Screening for Down syndrome is normally carried out via an amniocentesis test which involves removing some of the amniotic fluid which the featous is in in the womb in order to sample the fetoal cells in the fluid for genetic analysis. This test however does increase the risk of miscarriage by 0.5-1% and so couples often undergo genetic counselling and the decision to screen for Down syndrome cannot be taken lightly.

There is no specific treatment for Down syndrome also some symptoms can be controlled though medication, occupational therapy and physical therapy, and surgery, for example certain heart defects will require surgery.

Overall, although Down syndrome may bring a range of symptoms and associated conditions most adults with the condition can live independent lives. Raising a child with a disability, although hard work is thoroughly rewarding and there are many support networks for parents, friends and families of children and adults with Down syndrome.

Sources:
http://www.downs-syndrome.org.uk/
http://www.patient.co.uk/doctor/downs-syndrome-trisomy-21
http://www.downs-syndrome.org.uk/images/stories/DSA-resources/health/early_support_down_syndrome_final_2013.pdf (information and support for parents raising children and young adults with Down syndrome)
http://www.patient.co.uk/doctor/prenatal-screening-for-downs-syndrome (information of screening for Down Syndrome)
http://www.thefuturesrosie.com/ (a father’s blog about raising his daughter with Down syndrome)

Medical condition of the week – Synaesthesia

The medical condition of the week this week (I do apologise it was meant to be published last week!) is synaesthesia, in my mind a fascinating condition which is described as “union of the senses”. In other words it is when two or more sense that are usually experienced separately are experienced together, which is something which people with synaesthesia have no control over. However the condition is relatively common in the UK, estimated to affect approximately 4% of the adult population.

When most people think of Synaesthesia they tend to think of seeing music or sounds as colour. However, there are many forms of Synaesthesia which involve all the different senses. Theoretically there are many different combinations of the senses which can occur, with over 60 being reported. However, there are thought to be 5 main types of the condition.

Sound-to-colour synaesthesia is the synaesthesia that most people think about. With this form of the condition sounds trigger visualisation of colour, often in the forms of generic shapes such as circles, squares, or triangles, with different sounds producing different colours. In some people the colours are only triggered with certain sounds such as music, however with others the colours can become constant and sometimes “blinding”. A friend of mine with Sound-to-colour synaesthesia once said that background noise to her was brown as it was a mix of all the different colours.

Grapheme-Colour Synaesthesia is another one of the most common forms of synaesthesia and is when someone associates individual letters or numbers with a specific colour. This is often very individual to each person; however studies have shown that many people see some of the letters in the same way. For example with letter “A” is likely to be red.

Number-Form synaesthesia is when numbers are visualised in the brain in the form of a number map or mental map visualised in the brain. This is thought to be due to “cross-activation” between regions in the parietal lobe in the brain, responsible for numerical and spatial cognition. Ordinal-linguistic personification (OLP) is when someone associates ordered sequences with personalities. This can include numbers, letters, months, days of the week etc. For example the letter “B” may seem like a shy letter. (Both of these forms of synaesthesia are something which I do!)

One of the rarer types of synaesthesia is Lexical-Gustatory Synaesthesia, where individuals experience different tastes when they hear certain words. These tastes are tastes experience earlier on in life, and so there is no “mix-up” of tastes to produce a new taste.
Of course there are many more types of synaesthesia, and in some rare cases such as recorded by Solomon Shereshevsky, all five senses are linked. It is also possible for people to experience more than one type of synaesthesia, for example my friend has both sound-to-colour and Grapheme-Colour synaesthesia, this often made doing maths in a loud room difficult!

Although the symptoms of synaesthesia are fascinating the cause of the condition is still unknown. It is thought to be genetic however it is more common in some groups on people. Such as women are 6 times more likely to have synaesthesia, it is more common in left handed people and studies have shown that approximately 18.9% of adults with autism (in the UK) are thought to have synaesthesia, compared to 4% of the population as a whole.

Some experts believe the condition to be purely neurological and linked to “cross-association” between areas in the brain. This is supported by the idea that many people with synaesthesia display similar characteristics such as confusing left and right, good memory, bad sense of direction, perfectionists and introverts, and extremely creative and talented in the arts. Migraines are also thought to be more common in people with synaesthesia.

Treatment for the condition is very difficult, mainly because the cause is still unknown. Although some people with the condition may feel “different” others embrace it and it most cases treatment is not necessary. For others however there is research into hypnosis treatment, however this is still in the early stages.

Overall, synaesthesia is a truly incredible condition and research into it can help us to understand the neurology of the brain and the senses much better. However, for those suffering with the condition although it may seem a little different to us, it is just part of life!

Sources:
http://www.uksynaesthesia.com/index.html
http://www.synesthesiatest.org/
http://www.nhs.uk/news/2013/11November/Pages/Synaesthesia-more-common-in-autism.aspx