Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts

Wednesday, August 01, 2018

A Death of One Thousand Subtractions

Alzheimer's is the cleverest thief, because she not only steals from you, but she steals the very thing you need to remember what's been stolen - Jarod Kintz, This Book Has No Title.

It'll become an epidemic once the baby boomer generation starts getting over 65 years of age. It's the revenge of longevity. 65 to 70% of Dementia is Alzheimer's. It always begins in the hippocampus, thus the loss of short term memory at the beginning of the illness. Short term memory (STM) just gets worse and worse at first, followed by the person's analytical abilities. Frustration can lead to aggression and even violent outbursts, muscle and movement loss progressively follow and the inability to swallow, then you're more or less looking at it really beginning to kill the person.

You can't converse with Alzheimer's sufferers in the way you do with others; the dialogue tends to go round in circles - Kevin Whately.
 
The care givers are also the heroes in this disease, along with the scientists. A death of 1000 subtractions, bit by bit, day by day, week by week, month by month, year by year. A slow death sentence. However, not everyone who lives to an old age gets Alzheimer's. No one is immune to the disease. Yes there is a genetic component, but inheritance is only about 5%, so you're far more likely to be in the 95th percentile.

People think it's just forgetting your keys. Or the words for things. But there are the personality changes. The mood swings. The hostility and even violence. Even from the gentlest person in the world. You lose the person you love. And you are left with the shell... And you are expected to go on loving them even when they are no longer there. You are supposed to be loyal. It's not that other people expect it. It's that you expect it of yourself. And you long for it to be over soon - Alice LaPlante, Turn of Mind.

Monday, August 01, 2016

Tourette's Syndrome - Tic Disorders

What is a tic?
A tic is an involuntary movement. A muscle or group of muscles move - tic - when you don't want them to or you make a noise or grunt rather like the throat-clearing some people do when they get nervous.
 
Tics can be divided into four categories. You can have:
 
1) A transient tic, which can be a movement or making a noise that lasts for more than four weeks but less than twelve. 
2) A chronic tic, which is either a movement or sound (but not both) that is present for more than a year.
3) Tourette's syndrome, which is movement and sounds together for more than a year.
4) A tic disorder (not otherwise specified) that does not fit into any of the other categories.
 
The classic picture of Tourette's syndrome often seen portrayed in films is the exception rather than the rule. The vast majority of children and adults have a variety of minor motor (movement) tics and/or vocal tics.

Although these motor and vocal tics are described as involuntary movements (you can't control them), they can to a certain extent be held back. Some sufferers can stop the tics for a period of time and release them when they are in the privacy of their own home. Therefore, it can come as something of a surprise for a teacher or employer to learn that a child or employee has a tic disorder. Some sufferers can disguise their tics by building them into what might be considered to be normal movements. However, holding back tics comes at a cost. Often when the child gets home his or her behaviour can become very disturbed or they suffer terrible guilt when they finally have to give in to the overwhelming urge.

History 
Tourette's Syndrome was originally described by Gilles de la Tourette as 'maladie des tics convulsifs avec coprolalie' (an illness of convulsive tics with the involuntary use of obscene words). The early documented cases of Tourette's syndrome were of adult patients and it was not until the 1930s that the tics were described in normal children. However, Tourette did note that as well as the involuntary movement tics, vocal tics and swearing, the disorder began in childhood, (usually between the ages of seven and ten), affected males more than females and was, in his opinion, hereditary. He also noted that the tics usually started in the face or upper extremities and that the symptoms waxed and waned and were made worse by stress. 


Disorders associated with Tourette's Syndrome
Some common signs of Tourette's are:
- excessive blinking
- head turning
- throat-clearing
- grimacing
- grunting
- squeaking
- one-sided facial tics
- eyes rolling up

The cause of Tourette's
The exact cause of Tourette's syndrome is unknown, but it appears to be linked to the gene or genes that control certain neurotransmitters, notably dopamine and serotonin. Where these symptoms begin not only goes a long way towards explaining the underlying cause but also presents an opportunity to provide effective treatment. About a third of people with the disorder have relatives with Tourette's syndrome, while another third have family members with milder tic disorders. There is also more obsessive-compulsive disorder and attention deficit hyperactivity disorder in families of people with Tourette's syndrome. Further, because Tourette's is much more frequent in men, the role of hormones has been considered and it has been suggested that the male foetus might be vulnerable to a spike in the female hormone oestrogen from the mother, during a specific stage during pregnancy.

What makes tics worse?
- Just talking about a person's tics - or habits as they are often called - in front of them can set off motor (movement) tics in seconds.
- Being overtired can make a big difference to the occurrence of tics. Children are often worse at the end of term.
- Lack of sleep can cause an upsurge in symptoms.
- Drinking alcohol can make symptoms worse the next day.
- Stress is certainly a big factor. In children the build-up to exams or in adults the period leading up to a big presentation can see an increase in symptoms.
- Diet has also been implicated on numerous occasions. The Mental Health Foundation has suggested that food additives and insufficient omega-3 can play a role in the generation of anxiety and signs of ADHD.

What helps reduce tics?
- Being distracted by something enjoyable or engaging in an activity (e.g. playing piano) can see a complete cessation of tics.
- Getting enough sleep and taking exercise in the fresh air can help prevent a build-up.
- Taking alcohol in moderation.
- A healthy diet as free from artificial sweeteners and additives as possible has been shown to help.
- Supplementing your diet with omega-3 can also provide significant benefits.
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~ The above is from Pauc, R. (2008) Could It Be You? , a well worth reading book for anyone interested in the area of learning difficulties. It's written in a very reader friendly format, detailed but not too taxing on the mind, and covers a range of issues from dyslexia, dyspraxia, ADHD, OCD, Tourette's syndrome, and autism. Recommended.  

Thursday, July 03, 2014

Depressive Disorders

The causes of depression are mixed. There is no one cause for depression - even for a single person. And so we think of it as a risk factor model: where depression develops in the context of risks, and when those risks get high enough, the person goes over some threshold to develop this self-sustaining depression. Those risks might be divided into three categories; psychological, environmental and biological.

On the biological side we have genetics and other physiological factors which can give the person a predisposition towards being depressed. The psychological aspect can include thinking patterns or cognitive style personalities that may leave a person at a greater risk for depression. While environmental factors can include the stressors the person faces and a lack of social support. When the sum total of all these risk factors get high enough, then that can push us over some threshold and we go into a period of clinical depression. For some people, one of those three factors may be stronger than the other but it's unlikely that there is one cause - there's usually some balance of all of the factors. Nevertheless, all of the risk factors should be attended to.

As depression begins to take hold, people stop performing behaviours that previously provided reinforcement, such as hobbies and socialising. Moreover, depressed people tend to make others feel anxious, depressed and hostile (Joiner and Coyne, 1999). Eventually, these other people begin to lose patience, failing to understand why the person just can't snap out of it. This diminishes social support even further and may eventually cause depressed people to be abandoned by those who are most important to them (Nezlek et al., 2000). Additionally, longitudinal studies show that reductions in social support are a good predictor of subsequent depression (Burton, 2004).
 
In short, behavioural theorists believe that to begin feeling better, depressed people must break this vicious cycle by initially forcing themselves to engage in behaviours that are likely to produce some degree of pleasure. Eventually, positive reinforcement produced by this process of behavioural activation will begin to counteract the depressive affect, undermine the sense of hopelessness that characterizes depression, and increase feelings of personal control over the environment.
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''If you know someone who’s depressed, please resolve never to ask them why. Depression isn’t a straightforward response to a bad situation; depression just is, like the weather. Try to understand the blackness, lethargy, hopelessness, and loneliness they’re going through. Be there for them when they come through the other side. It’s hard to be a friend to someone who’s depressed, but it is one of the kindest, noblest, and best things you will ever do.''
              ~ Stephen Fry

Wednesday, November 13, 2013

Fancy some light reading?



The human genome is made up of 23 chromosome pairs with a total of about 3 billion DNA base pairs. It is the complete set of genetic information for humans. When the University of Leicester's Department of Genetics decided to print out an entire human genome, it amounted to 130 volumes of some 300 pages!!!
 
You - in 130 volumes
A total of 3000 million characters - and you thought Game of Thrones had a lot!


The genome print out spans 130 volumes, with each page printed on both sides in 4-point font, with about 43,000 characters per page. The X chromosome is made up of seven volumes, while the Y chromosome occupies one. The total exercise cost a little less than 4,000 pounds.
From start to finish it would take approximately 95 years to read!
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''DNA is like a computer program but far, far more advanced than any software ever created''
                                                                                                       ~ Bill Gates, The Road Ahead