Maternal Age the Most Significant Risk Factor Associated with Down Syndrome

“Attacking people with disabilities is the lowest display of power I can think of.” -Morgan Freeman

Down syndrome is the most frequently occurring chromosomal congenital abnormality in Canada. It is a lifelong condition. It adversely affects infant’s life and mortality.

An English physician John Langdon Down first described Down syndrome in 1862, and helped to differentiate the condition from mental disability. Prior to that for centuries, people with Down syndrome have been alluded to in art, literature and science. Many individuals were killed, abandoned or ostracized from society. Many of these children died during infancy or early adulthood.

Humans usually have 46 chromosomes in every cell, with 23 inherited from each parent. Due to the extra copy of chromosome 21 (trisomy 21), people with Down’s syndrome have 47 chromosomes in their cells. This additional DNA causes the physical characteristics and developmental problems associated with the syndrome.

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a child with Down syndrome. There is no definitive scientific research that indicates Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome that causes Down syndrome can originate from either the father or the mother. Approximately five per cent of the cases have been traced to the father.

Children with Down syndrome experience intellectual delays and are at an increased risk for several medical conditions.

Congenital heart defects and respiratory infections are the most frequently reported causes of death in children and young adults with Down syndrome. Childhood leukemia is also associated with Down syndrome.

Due to higher birth rates in younger women, 80 per cent of children with Down syndrome are born to women under 35 years of age. Women aged 35-39 years have the highest percentage of babies born with Down syndrome (29 per cent).

According to a report on the Government of Canada website, the birth prevalence of Down syndrome in Canada from 2005 to 2013 has remained stable. Approximately one in 750 live born babies in Canada has Down syndrome. Advanced maternal age is the most significant risk factor, says the website.

Prenatal screening for Down syndrome has advanced in both accuracy and early detection. The number of children born with Down syndrome has remained stable due to increased use of prenatal diagnostic procedures followed by terminations of pregnancies.

The Society of Obstetricians and Gynecologists of Canada’s clinical care guidelines for prenatal testing advise against using maternal age as the only criterion for invasive prenatal diagnosis. They recommend prenatal screening for clinically significant fetal abnormalities be offered to all pregnant women, irrespective of age.

There are 45,000 Canadians with Down syndrome, with a very active organization, Canadian Down Syndrome Society (CDSS). The CDSS is a non-profit organization that provides Down syndrome advocacy in Canada, says their website.

The organization helps people with Down syndrome. People with Down syndrome can go to school, finish university, find careers, and get married. CDSS goal is to ensure all people with Down syndrome live fulfilled lives. It is Canada’s voice for Down syndrome.

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Autism Spectrum Disorder (ASD) Encompasses Four Challenging Conditions

"Autism is part of my child. It's not everything he is. My child is so much more than a diagnosis" -S.L. COELHO (Autism Treatment Center of America)
"Autism is part of my child. It's not everything he is. My child is so much more than a diagnosis" -S.L. COELHO (Autism Treatment Center of America)

In 2013, the American Psychiatric Association merged four previously distinct diagnoses into one umbrella diagnosis of autism spectrum disorder (ASD). What causes these conditions? We don’t know. There are different combinations of genetic and environmental influences that cause these illnesses.

The four conditions are:

  1. Autistic disorder
  2. Childhood disintegrative disorder
  3. Pervasive developmental disorder-not otherwise specified (PDD-NOS)
  4. Asperger syndrome

These four conditions are characterized by challenges with social skills, repetitive behaviours, speech and nonverbal communication, as well as by unique strengths and differences.

Autism is a lifelong spectrum disorder. Autism is now the fastest growing and most commonly diagnosed neurological disorder in Canada. Autism occurs in all racial, ethnic and socio-economic groups.

Autism has no single known cause. Given the complexity of the disorder, and the fact that symptoms and severity vary, there are probably many causes. Both genetics and environment may play a role.

There is no link between vaccines and autism. And there’s no way to prevent autism.

In Canada, one in 68 children are currently diagnosed with autism spectrum disorder. The prevalence of autism has increased over 100 per cent in the last 10 years.

The unemployment rate for individuals with ASD is over 80 per cent. With the right support, all individuals with autism can thrive. No two people with autism are the same, not even identical twins.

How do you know your child is autistic?

Because autism varies widely in symptoms and severity, making a diagnosis may be difficult. Mental health concerns such as anxiety and depression are common in individuals with autism. There isn’t a specific medical test to determine the disorder.

Autism’s most obvious signs tend to appear between two and three years of age. Sometimes developmental delays associated with autism can be identified and addressed even earlier.

Autism is characterized by what is clinically described as “deficits in social reciprocity.” Social reciprocity may include a range of back-and-forth actions, such as gestures, sounds, play, attention, and conversation.

Around one third of people with autism have difficulty with communication and have intellectual disability. Many of these individuals have stomach and bowel problems, seizures, sleep disturbances, attention deficit, hyperactivity disorder (ADHD), anxiety and phobias.

The symptoms are varied, but one thing is clear: the earlier a child is diagnosed and begins receiving services, the better the outcome for the child.

Management of a child with autism spectrum disorder

There is no cure for autism but intensive, early treatment can make a big difference in the lives of many children.

Each child with autism spectrum disorder is different with a unique pattern of behavior and level of severity – from low functioning to high functioning, normal to high intelligence. As they mature, some children become more engaged with others and show fewer disturbances in behavior.

Unfortunately, some continue to have difficulty with language or social skills, and the teen years can bring worse behavioral and emotional problems. The goal of treatment is to maximize your child’s ability to function. Early intervention during the preschool years is important. It can help your child learn critical social, communication, functional and behavioral skills.

For more information visit Autism Speaks Canada

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Challenges of Raising a Child with Rett Syndrome

The Colosseum or Coliseum, also known as the Flavian Amphitheatre, in the city of Rome, Italy. (Dr. Noorali Bharwani)
The Colosseum or Coliseum, also known as the Flavian Amphitheatre, in the city of Rome, Italy. (Dr. Noorali Bharwani)

Rett syndrome (RTT) is a rare genetic neurological and developmental disorder that affects the way the brain develops. The condition was first reported in 1966 by Dr. Andreas Rett (an Austrian paediatric neurologist) but has only recently become widely recognized as a discrete disease entity.

It is a progressive inability to use muscles for eye, body movements and speech. It is one of the most common causes of mental difficulties in females.

Rett syndrome affects approximately one in 10,000 live female births. There is less than one per cent chance of having a second child with Rett syndrome.

It is rarely seen in males. Males have a different genetic combination from females. Boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.

Rett syndrome is caused by a change in the DNA (mutation) named MECP2 that is found on the X chromosome.

Presentation of the Disease

Most babies with Rett syndrome seem to develop normally at first, but after about six months of age, they lose skills they previously had – such as the ability to crawl, walk, communicate or use their hands.

Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability.

The most pronounced changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.

Seizures occur in about half of cases. The girls typically survive into adulthood, but are at risk of sudden unexplained death.

Rett syndrome is described in four stages, although symptoms will often overlap between each stage. Signs and symptoms of Rett syndrome can be subtle in the early stages. If you begin to notice physical problems or changes in behavior of your child after apparently normal development then you should consult your doctor.

Genetic Testing

If your pediatrician suspects Rett syndrome after evaluation, he or she may recommend a genetic test (DNA analysis) to confirm the diagnosis.

Treatment

Although there’s no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.

Treating Rett syndrome requires a multi-disciplinary team approach. Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. Families need intense support as well.

Survival is relatively good and patients are usually over the age of 10 and 70 per cent are 35 years old. This prolonged survival implies providing multi-disciplinary care over the long term. There is a high incidence of unexplained sudden death in adulthood.

For more information and support contact Rett Syndrome Society of Alberta and the Ontario Rett Syndrome Association.

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Obesity and Smoking are Bad for Breast Cancer Patients

Kananaskis Country. (Dr. Noorali Bharwani)
Kananaskis Country. (Dr. Noorali Bharwani)

“Although more than 90 per cent of patients with breast cancer have early stage disease at diagnosis, about 25 per cent will eventually die of distant metastasis,” says an article in the Canadian Medical Association Journal (CMAJ February 21, 2017) written by Julia Hamer and Ellen Warner.

In their review article Hamer and Warner say if breast cancer patients make positive lifestyle changes then they can reduce the risk of breast cancer recurrence and death. It can also be psychologically beneficial by empowering them, since the feeling of loss of control is one of the challenges of a cancer diagnosis.

The authors of the article reviewed the role of lifestyle factors, particularly weight management, exercise, diet, smoking, alcohol intake and vitamin supplementation, on the prognosis of patients with breast cancer.

Body weight influences the prognosis for breast cancer patients.

Women who gain weight during or after treatment of breast cancer have been consistently shown to be at higher risk of breast cancer–related death. Also, women who are overweight or obese at the time of diagnosis have a poorer prognosis.

Most women with breast cancer gain weight both during and after active treatment, and much of the weight is never lost. This increases the risk of recurrence and reduces survival.

There are many reasons for weight gain including stress eating, reduced activity because of fatigue or other treatment-related adverse effects, lowered metabolic rate from chemotherapy, and use of pre- and post-chemotherapy medications such as dexamethasone.

What role can exercise play in improving prognosis?

A recent review of the effect of lifestyle factors on breast cancer mortality concluded that physical activity has the most robust effect of all lifestyle factors on reducing breast cancer recurrence.

Patients should be encouraged to engage in at least 30 minutes of moderate-intensity physical activity at least five days of the week, or 75 minutes of more vigorous exercise, along with two to three weekly strength training sessions, including exercises for major muscle groups.

Both the Canadian Cancer Society and the American Cancer Society have endorsed this recommendation, says the CMAJ article.

Can a change in diet improve outcomes?

There is currently no particular style of diet that has been found to be more beneficial than another for reducing the risk of breast cancer recurrence.

Studies from the United States and China found that high consumption of soy protein or soy isoflavones after breast cancer diagnosis was associated with a 26 per cent decrease in cancer recurrence.

Is there a benefit from quitting smoking and reducing alcohol consumption?

Yes. Recent observational studies have shown women with breast cancer who have a substantial smoking history have increased breast cancer deaths compared with those who never smoked, says the article. Findings are too inconsistent to conclude alcohol consumption affects breast cancer outcomes.

There is no evidence vitamins help improve cancer prognosis.

“Of all lifestyle factors, physical activity has the most robust effect on breast cancer outcomes,” says the article.

Follow the recommended 150 minutes of moderate to vigorous exercise or 75 minutes of vigorous exercise per week, along with two to three weekly sessions of strength training.

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Horrors of Fentanyl Abuse Continue to Grow

Camões' tomb in the Jerónimos Monastery, Belém, Lisbon. (Dr. Noorali Bharwani)
Camões' tomb in the Jerónimos Monastery, Belém, Lisbon. (Dr. Noorali Bharwani)

Narcotics are the oldest (since 4000 BC) as well as the strongest pain-relieving drugs known to mankind. Narcotics or opioids (means the same thing) are drugs that act on the nervous system to relieve pain. Continued use and abuse can lead to physical dependence and withdrawal symptoms.

Is there a difference between narcotics, opioids and opiates? Opioids include opiates, an older term that refers to drugs derived from opium, including morphine. In some jurisdictions all controlled drugs are legally classified as narcotics. Now the term opioid is used for the entire family of opiates. 

Last year, almost 2,500 Canadians died from opioid-related overdoses. These are usually young and otherwise healthy individuals. There is no doubt we are in the midst of a drug crisis, with about 200 per cent increase in the rate of opioid overdose deaths in the last decade.

There are three kinds of opioid drugs. These are synthetic opioids (example fentanyl), semi-synthetic opioids (oxycodone, heroin), and natural opioids (opium, morphine, codeine). Natural opioids are from a natural source – opium poppy.

Fentanyl is a fully synthetic opioid, originally developed as a powerful anaesthetic for surgery. It is also administered to alleviate severe pain associated with terminal illnesses like cancer. The drug is up to 100 times more powerful than morphine. Just a small dose can be deadly. Illicitly produced fentanyl has been responsible in the number of overdose deaths in recent years. Fentanyl in intravenous form is 70 to 100 times more potent than morphine.

Comparatively, codeine is only about 1/10th as powerful as morphine. Opioid that is more powerful than morphine includes hydromorphone (Dilaudid) and others. But the strongest opioid in community use is fentanyl.

Doctors know their regular patients. Their relationship is based on trust and faith. When a person says he is in pain then the doctor has to decide what kind of painkiller would help. There are two main types of painkillers: non-narcotic analgesics for mild pain, and narcotic analgesics for severe pain.

Because pain is very subjective, it makes it challenging to prescribe appropriate painkillers. Patients with chronic pain are looking for quick relief of pain on a regular basis. Heroin is a faster-acting painkiller than morphine. Heroin is beneficial for those patients troubled by the adverse effects of morphine, like nightmares, nausea, constipation and hallucinations. With heroin the risk of addiction and abuse is high. Tolerance and dependence will develop with continuous use.

The biggest drug abusers are addicts who buy their fentanyl and other narcotics on the streets. The quality of these drugs is not good. Addicts are at a very high risk of dying from complications and overdose.

There is help for them. Alberta’s opioid crisis response team is available to help. Their website has all the details. Call 911 immediately if an overdose is suspected. Canada’s new Good Samaritan law can protect you, a relative, a friend or a bystander. Naloxone is an antidote can reverse an opioid overdose. This includes fentanyl. You don’t need a prescription and it is free at sites across Alberta. Find a naloxone kit near you. Keep it handy. Check with your doctor, health unit or pharmacist. You never know when you will need it.

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Important Things to Remember About Recreational and Medical Use of Marijuana

A bird in Maui. (Dr. Noorali Bharwani)
A bird in Maui. (Dr. Noorali Bharwani)

Dr. Sanjay Gupta, Neurosurgeon and Chief Medical Correspondent for CNN is reported to have said, “Every 19 minutes somebody dies of a prescription drug overdose. It doesn’t happen with marijuana.” In the past Gupta was against legalising medical marijuana in the U.S. but now he is in favour of it. He sees some benefit for certain types of illnesses.

The use of medical marijuana (medical cannabis) as a medicine has not been rigorously tested due to several restrictions. But there is some evidence to suggest cannabis can reduce nausea and vomiting during chemotherapy, improve appetite in people with HIV/AIDS, and reduce chronic pain and muscle spasm.

Medical marijuana can improve sleep, and improve tics in Tourette syndrome. When usual treatments are ineffective, cannabinoids have also been recommended for anorexia, arthritis, migraine, and glaucoma. It should not be used in pregnancy.

Use of marijuana is not without side effects such as: dizziness, feeling tired, vomiting, and hallucinations. There is some concern about the long-term use of marijuana. It may cause memory loss, addiction, and schizophrenia.

Recreational use of cannabis is illegal in most parts of the world, but the medical use of cannabis is legal in certain countries, including Canada and 29 states in the U.S.

A cannabis plant includes more than 400 different chemicals, of which about 70 are cannabinoids. In comparison, typical government-approved medications contain only one or two chemicals. The number of active chemicals in cannabis is one reason why treatment with cannabis is difficult to classify and study.

Articles in the Canadian Medical Association Journal (CMAJ September, 2017) make few important points on the use of medical marijuana:

  1. Despite widespread availability, medical marijuana is still experimental.
  2. Use of medical marijuana can increase the risk of motor vehicle collision.
  3. The drug should be titrated slowly with low initial dosing.
  4. Users of medical marijuana may be vulnerable to psychosis.
  5. Recreational and medical marijuana are not equivalent and therefore, should have different frameworks for access.
  6. User should remember there are substantial gaps in our knowledge on the use of medical marijuana.
  7. More vigorous research is required to make better use of this drug.

“I do want to mention a concern that I think about as a father. Young, developing brains are likely more susceptible to harm from marijuana than adult brains. Some recent studies suggest that regular use in teenage years leads to a permanent decrease in IQ. Other research hints at a possible heightened risk of developing psychosis,” says Gupta in one of his articles.

On August 11, 2016, Health Canada announced the new Access to Cannabis for Medical Purposes Regulations (ACMPR). The ACMPR allow for reasonable access to cannabis for medical purposes for Canadians who have been authorized to use cannabis for medical purposes by their health care practitioner.

These individuals will continue to have the option of purchasing safe, quality-controlled cannabis from one of the producers licensed by Health Canada. Canadians will also be able to produce a limited amount of cannabis for their own medical purposes, or designate someone to produce it for them.

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Statistics Show Majority of Canadians Overweight and Overfat

Photograph by Dr. Noorali Bharwani.
Photograph by Dr. Noorali Bharwani.

According to Statistics Canada, 61.3 per cent of adult Canadians were overweight or obese in 2015, says an article in the Canadian Medical Association Journal (CMAJ August 31, 2017). That means three in five Canadians are overweight or obese.

In 2015, the percentage of those who were obese rose to 26.7 per cent, up from 23.1 per cent in 2004. Obesity has continued to increase in adult men and women who are age 60 years and older.

Researchers warn us focusing on body mass index (BMI) misses the risks of high body fat in people of normal weight.

BMI is a person’s weight in kilograms divided by the square of height in meters. BMI does not measure body fat directly. But BMI is an inexpensive and easy-to-perform method of screening for weight category.

Your BMI may be normal for your height and weight but you may still have more fat than is good for you. It may misclassify someone who is short and muscular.
On the other hand a high BMI can be an indicator of high body fatness.

BMI can be used for population assessment of overweight and obesity. Because calculation requires only height and weight, it is inexpensive and easy to use for clinicians and for the general public. BMI can be used as a screening tool for body fatness but is not diagnostic.

How is BMI interpreted for adults (over age 20)?

  1. BMI below 18.5 – underweight
  2. BMI 18.5 to 24.9 – normal or healthy weight
  3. BMI 25.0 to 29.9 – overweight
  4. BMI 30.0 and above – obese

The question is – Is BMI the best way to measure obesity?

The CMAJ article says, “A provincial spokesperson for Manitoba (where child obesity is climbing) questioned the value of the measurement because BMI does not consider lifestyle behaviours like dietary quality, physical activity, which are, in fact, stronger determinants of death and disease.”

The CMAJ article goes on to give many examples where BMI may not accurately reflect a person’s risk of serious obesity related illnesses. Incidence of coronary heart disease, stroke, cancer and type 2 diabetes is higher in overweight and obese person.

A recent study in Frontiers in Public Health (July 24, 2017) by Philip B. Maffetone and colleagues say using BMI to measure obesity likely underestimates the problem. They propose measuring a person’s waist instead of their weight to assess health risks. Abdominal fat or obesity has more severe health effects than fat in other parts of the body.

A person has to reduce abdominal girth to reduce adverse health risks. A person’s waist should be less than half their height. This waist-to-height ratio may be the single best clinical indicator of health risk as it can be used throughout childhood, into adult life, as well as throughout the world.

Most clinicians usually know if the patient in front of them has too much body fat. They should not have to wait for the latest consensus to encourage lifestyle changes: lose weight, make dietary quality changes and increase physical activity. Simply put… eat less and exercise more.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!