Tag Archive: genetics

  1. Coeliac Awareness Week – 10th-16th May 2010

    Leave a Comment

    If you are in doubt, get tested and look out for the following symptoms:

    The symptoms can be subtle, and you may feel unwell for some time for no reason before the diagnosis is made. It used to be thought that coeliac disease affected about 1 in 1500 people. More accurate diagnosis through blood tests has shown that the condition affects up to 1 in 300 people in the United Kingdom, Europe and the USA. It is more common in some areas of the world, particularly on the west coast of Ireland, where 1 in every 100 people are thought to have coeliac disease. Coeliac disease can affect you at any age. It was thought to be more common in men, but probably occurs equally in men and women. One definite risk factor is a history of the condition in your family. Coeliac disease occurs in people who are genetically prone to it. If you have a parent, sibling or child with coeliac disease, you have a 10 per cent chance of also developing it. If you have an identical twin with coeliac disease, your chances increase to more than 70 per cent.

    Coeliac disease has many and varied symptoms, and symptoms in adults are different to those in children.

    Childhood symptoms

    In childhood symptoms do not appear until gluten-containing foods are introduced into the diet.

    • Poor appetite, irritability and a failure to gain weight are usually the first symptoms.
    • Pale, bulky stools that smell nasty.
    • Vomiting and diarrhoea, which can lead to a wrong diagnosis of gastroenteritis.
    • Swollen stomach.
    • Arm and leg muscles may become wasted and thin.

    Adult symptoms

    • weight loss with pale, offensive diarrhoea
    • constipation
    • abdominal bloating with wind.
    • extreme tiredness – which is a sign of anaemia
    • psychological problems like depression
    • bone pain and sometimes even fractures – which are due to thinning of the bones
    • ulcers in the mouth
    • a blistering, itchy skin rash mostly on the elbows and knees, called dermatitis herpetiformis.

    In one neurology clinic, several patients who, for no apparent reason, had difficulty walking and coordinating (ataxia) were tested for coeliac antibodies in the blood. A significant number were found to have coeliac disease, although many of them did not have any gut symptoms. Your doctor may also want to know whether you have lost weight or whether you have symptoms of anaemia (tiredness, exhaustion, pallor). The doctor may:

    • examine your abdomen
    • look for a blistering rash on your skin
    • check for mouth ulcers
    • Your doctor will check for anaemia, testing the levels of iron, folic acid and calcium in your blood

    Another blood test detects antibodies that are often found in coeliac disease. Several antibodies are linked to the condition, but the most specific is anti-endomysial antibody. If this is present in the blood, you are very likely to have coeliac disease.

    An endoscopy test is often used to diagnose coeliac disease. Your doctor should arrange this test at the endoscopy unit at your local hospital.

  2. ADHD (cont.): Environmental versus Genetic Factors

    Leave a Comment

    I said I’d talk about ADHD in more detail later so here it is. As it’s so complicated I thought I’d share a real life case study so you can see quite clearly what is going on in the boy’s environment.

    Tom is a 10 yr old male, diagnosed with ADHD at 5 yrs old. Pre-conceptually, Tom’s father had been a heavy drinker and his mother a smoker. Tom was bottle fed and weaned early, developing colic when he was 9 months old. During the early years of his childhood he was treated for an e.coli infection with antibiotics and thereafter became lactose intolerant. He had the MMR vaccination. Between the ages of 3 yrs and 5 yrs Tom only ate white food and it was during this period that he visited the local hospital for clear outs with Movicol due to an impacted bowel. His bowel only moved on the ingestion of lactose, when he suffered severe diarrhoea. At 6 yrs old Tom’s teeth showed signs of early decay and like his mother, he was prescribed fluoride drops which he has been taking for three years.

    Tom’s family live near a busy airport with overhead pylons only metres away. Tom’s father is a painter and decorator and DIY enthusiast. When Tom was 6 yrs old his father used fungicide in the garden which caused Tom to fit. Since then Tom has suffered from weekly headaches. He has a TV and computer in his bedroom and spends long periods of time in front of a screen doing little exercise. Unhappy and teased at school, his tantrums often happen before and after school times. His diet is high in saturated fat, sugar and artificial sweeteners.

    When Tom was diagnosed with ADHD, he was displaying a range of symptoms including: anger, disruptive behaviour, little concentration, severe constipation, poor teeth, anxiety, insomnia, swings from hyped up excitement to fatigue and strange food choices. These range of symptoms can feel overwhelming not only for the child but the parents, although the family decided against medication. They were aware of some of the issues but little realised to what extent Tom had been environmentally exposed. To find one cause for these symptoms would be impossible as would proof. This is a multi-exposed child that would need a multi-disciplinary approach.

    Ok, so this poor child has been exposed to many environmental factors, so why is the research heavily biased on genetics?

    Environmental versus Genetic Factors

    The question much disputed by policy makers and scientists is whether environment or heredity issues are more relevant. A fierce debate on the causes of autism/ADHD has pitted genetics against environmental toxins. Although we are aware that there is a genetic component in autism, researchers are now looking at whether the huge increase in autism rate might be linked to a combination of both environmental factor and genetic susceptibility. Children who are genetically susceptible, for example, being exposed to eating gluten or low levels of mercury may then go on to trigger autism. Unfortunately, research resources are currently heavily skewed towards genetic factors – funding for studies conducted on such causes of autism is 10 to 20 times as much as funding for environmental factors. “The advances in molecular genetics have tended to obscure the principle that genes are always acting in and on a particular environment. said Dr Bernard Weiss, a professor of environmental medicine and paediatrics at the University of Rochester Medical Centre. He also said that “excessive emphasis has been placed on genetics as a cause”.

    And it is time for mindsets, especially those of people controlling research funds, to change. “It’s time to start looking for the environmental culprits responsible for the remarkable increase in the rate of autism in California,” said Dr Hertz-Picciotto, an epidemiology professor at University of California, Davis, the leader of the study. “There`s genetics and there`s environment. And genetics don`t change in such short periods of time,” she also said.

    There needs to be a nationwide shift in autism research, moving from studies on genetic factors towards potential environmental ones, such as infant and foetal exposure to pesticides, chemicals found in common household agents, and viruses. Along those lines, the dangers and effects of childhood vaccinations should be carefully investigated, too – this is likely to be a significant factor. What is quite clear is that there are many possible causative factors, and extensive research will have to be carried out to reveal more – there is no one “smoking gun.”

    As I said its complicated, but going back to America’s Medicated Kids it’s crystal clear to me that there are two camps. One, the child is just naughty, playing up, has issues at home, is being bullied or has been overloaded and overburdened with the above environmental and genetic factors.

    By the way the child above whose name has been changed is now completely 100% better. Yes it was difficult and hard going but the parents chose to find out why their son was ill, and not choose the easy option of a pill. They worked hard and it paid off.

    If you would like to do your own research on the topic of ADHD and environment, take one of the issues above: ie diet, stress, nutrient deficiencies, artificial sweeteners, gut problems, mercury, lead, organophosphates, pesticides, Electro magnetic frequency (EMF) and just google that word with ADHD and see what you get – you will be surprised!

  3. America’s Medicated Kids

    Leave a Comment

    It was with sadness that I watched America’s Medicated Kids last night on BBC2. As a fan of Louis Theroux I think he coped with interviewing these families very well asking questions (that we all wanted to ask) and not invading their space.

    However, it still made for uncomfortable viewing. I’m writing a paper at the moment on ADHD with regards to genetics and environment. There are so many multifactoral reasons for a child to get ADHD, none of which were covered in this programme, and too many to mention in this blog (perhaps I’ll write again on the subject later).

    To me the children’s behaviour (despite being medicated) was in the usual parameters of being a child or a stroppy rude insolent teenager – nothing new there. In fact if you look at the children Jo Frost aka SuperNanny has to deal with – some of these so-called ADHD children were polite in comparison.

    The medication seemed to be used to parent. A kid gets stroppy, plays up, doesnt concentrate in class, and they are labelled with a mental health issue and zoned out and tranquillsed on the latest drug that has been manufactured for the latest invented mental health issue.

    We also did not get to see behind the scenes of what was really going on in these children’s lives when the cameras were off. When Louis interviewed the 10 yr old Hugh, he replied like an actor who had been fed lines – something strange was going on in that family. In fact something strange and sinister seems to be happening all over mid-America with the numbers of ‘ADHD’ soaring every year…. and yes it’s spreading in the UK as well.