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What is the likelihood of having a child with Down’s syndrome?

DR BOIMA

HEALTH ISSUES


Down's syndrome or Down syndrome is a genetic condition that typically causes characteristic physical features and some level of intellectual disability.

 

Every human body cell contains 46 (23 pairs) genetic material or chromosomes, half of which are inherited from each parent. Down’s syndrome occurs when an individual has a full or partial extra copy of chromosome 21, making it 47 chromosomes in total. The additional genetic material is the one responsible for the characteristics seen in Down’s syndrome. The cause of the extra chromosome is still unknown; but studies have established that it can originate from either parent or happen sporadically or by chance.


Most children with Down’s syndrome have:

 

  • Distinctive facial features, such as a flat face, slanting widely spaced eyes, small low lying ears, a small  mouth and a big protruding tongue
  • A short neck and small stature
  • Low muscle tone leading to floppiness
  • Below-average intelligence
  • Hearing and vision problems
  • Heart disorders, such as congenital heart disease
  • Breathing problems etc.
  • Fertility problems – People with Down syndrome rarely reproduce. Only 15-30% of women with Down’s syndrome are fertile and they have about a 50% risk of having a child with Down syndrome. There is no evidence of a man with Down syndrome fathering a child
  • Dementia


Down’s syndrome affects people of all races and socio-economic status similarly. There is a small chance of having a child with Down’s Syndrome with every pregnancy (for everyone) but the only single significant risk that has been established to multiply the chance is advanced maternal age. Older women have an increased chance of having a child with Down’s syndrome. A 35 year old woman has about a one in 350 chances of conceiving a child with Down’s syndrome, and this chance increases gradually to 1 in 100 by age 40.

 

At age 45 the incidence becomes approximately 1 in 30. Since many couples are postponing parenting until later in life due to different reasons, the incidence of Down’s syndrome conceptions is expected to increase. Therefore, genetic counselling for parents is becoming increasingly important for physicians. Of significance also is that once the parents have given birth to a baby with Down’s syndrome, their chance of having another baby with Down syndrome is increased (1 in 100 before age 40).


The good thing is that technology has evolved to allow parents to know their chances of having a Down’s syndrome baby even before the baby is born. Both screening tests and diagnostic tests can be performed while the baby is still in-utero. Screening tests estimate the chance of the foetus having Down’s syndrome. These can be done through a blood test and ultrasound. The blood test measures quantities of various substances like foetal chromosomal material in the blood of the mother, and together with certain features on the ultrasound and a woman's age; they can be used to estimate the chance of having a child with Down’s syndrome.

 

They do not tell for sure whether the foetus has Down’s syndrome but only provide a probability.  Diagnostic tests on the other hand, can provide a definitive diagnosis with almost 100% accuracy, though they carry a 1% risk of causing a miscarriage when they are done (since they are invasive). The procedures available are chorionic villus sampling (CVS) which is performed in the first trimester between nine and 14 weeks, and amniocentesis which is usually done in the second trimester between 15 and 20 weeks of gestation.


Performing the tests and confirming the diagnosis provides one with certain opportunities like:

  • Beginning to plan for a child with special needs and assembling a team of professionals like health care providers, teachers and therapists
  • Starting to address anticipated lifestyle changes
  • Identifying support groups and resources – seeking out support from those who have had similar experiences with a Down syndrome child can be very beneficial. These support groups can be found through local hospitals, physicians, schools and the Internet
  • Informing yourself about Down syndrome – strides have been made in recent years with people who have Down syndrome. It helps if parents find out the up to date facts and not believe each and every myth they hear about Down syndrome. People with Down syndrome can lead fulfilling lives just like other people. Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer.

Discovering that your child has Down’s syndrome can be scary and difficult. You may not know what to expect, and may worry about caring for a child with disabilities, so the reasons to test or not test for Down syndrome vary from person to person and couple to couple.

For questions or comments please email agboima@yahoo.com

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Export Processing Zones: How to Get SEZA to Sizzle

23rd September 2020
Export Processing Zone (EPZ) factory in Kenya

In 2005, the Business & Economic Advisory Council (BEAC) pitched the idea of the establishment of Special Economic Zones (SEZs) to the Mogae Administration.

It took five years before the SEZ policy was formulated, another five years before the relevant law was enacted, and a full three years before the Special Economic Zones Authority (SEZA) became operational.

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Egypt Bagged Again

23rd September 2020
Samson

… courtesy of infiltration stratagem by Jehovah-Enlil’s clan

With the passing of Joshua’s generation, General Atiku, the promised peace and prosperity of a land flowing with milk and honey disappeared, giving way to chaos and confusion.

Maybe Joshua himself was to blame for this shambolic state of affairs. He had failed to mentor a successor in the manner Moses had mentored him. He had left the nation without a central government or a human head of state but as a confederacy of twelve independent tribes without any unifying force except their Anunnaki gods.

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‘RO, ‘RO ‘RO YOUR ‘BOT

23rd September 2020

If I say the word ‘robot’ to you,  I can guess what would immediately spring to mind –  a cute little Android or animal-like creature with human or pet animal characteristics and a ‘heart’, that is to say to say a battery, of gold, the sort we’ve all seen in various movies and  tv shows.  Think R2D2 or 3CPO in Star Wars, Wall-E in the movie of the same name,  Sonny in I Robot, loveable rogue Bender in Futurama,  Johnny 5 in Short Circuit…

Of course there are the evil ones too, the sort that want to rise up and eliminate us  inferior humans – Roy Batty in Blade Runner, Schwarzenegger’s T-800 in The Terminator,  Box in Logan’s Run,  Police robots in Elysium and  Otomo in Robocop.

And that’s to name but a few.  As a general rule of thumb, the closer the robot is to human form, the more dangerous it is and of course the ultimate threat in any Sci-Fi movie is that the robots will turn the tables and become the masters, not the mechanical slaves.  And whilst we are in reality a long way from robotic domination, there are an increasing number of examples of  robotics in the workplace.

ROBOT BLOODHOUNDS Sometimes by the time that one of us smells something the damage has already begun – the smell of burning rubber or even worse, the smell of deadly gas. Thank goodness for a robot capable of quickly detecting and analyzing a smell from our very own footprint.

A*Library Bot The A*Star (Singapore) developed library bot which when books are equipped with RFID location chips, can scan shelves quickly seeking out-of-place titles.  It manoeuvres with ease around corners, enhances the sorting and searching of books, and can self-navigate the library facility during non-open hours.

DRUG-COMPOUNDING ROBOT Automated medicine distribution system, connected to the hospital prescription system. It’s goal? To manipulate a large variety of objects (i.e.: drug vials, syringes, and IV bags) normally used in the manual process of drugs compounding to facilitate stronger standardisation, create higher levels of patient safety, and lower the risk of hospital staff exposed to toxic substances.

AUTOMOTIVE INDUSTRY ROBOTS Applications include screw-driving, assembling, painting, trimming/cutting, pouring hazardous substances, labelling, welding, handling, quality control applications as well as tasks that require extreme precision,

AGRICULTURAL ROBOTS Ecrobotix, a Swiss technology firm has a solar-controlled ‘bot that not only can identify weeds but thereafter can treat them. Naio Technologies based in southwestern France has developed a robot with the ability to weed, hoe, and assist during harvesting. Energid Technologies has developed a citrus picking system that retrieves one piece of fruit every 2-3 seconds and Spain-based Agrobot has taken the treachery out of strawberry picking. Meanwhile, Blue River Technology has developed the LettuceBot2 that attaches itself to a tractor to thin out lettuce fields as well as prevent herbicide-resistant weeds. And that’s only scratching the finely-tilled soil.

INDUSTRIAL FLOOR SCRUBBERS The Global Automatic Floor Scrubber Machine boasts a 1.6HP motor that offers 113″ water lift, 180 RPM and a coverage rate of 17,000 sq. ft. per hour

These examples all come from the aptly-named site www.willrobotstakemyjob.com    because while these functions are labour-saving and ripe for automation, the increasing use of artificial intelligence in the workplace will undoubtedly lead to increasing reliance on machines and a resulting swathe of human redundancies in a broad spectrum of industries and services.

This process has been greatly boosted by the global pandemic due to a combination of a workforce on furlough, whether by decree or by choice, and the obvious advantages of using virus-free machines – I don’t think computer viruses count!  For example, it was suggested recently that their use might have a beneficial effect in care homes for the elderly, solving short staffing issues and cheering up the old folks with the novelty of having their tea, coffee and medicines delivered by glorified model cars.  It’s a theory, at any rate.

Already, customers at the South-Korean  fast-food chain No Brand Burger can avoid any interaction with a human server during the pandemic.  The chain is using robots to take orders, prepare food and bring meals out to diners.  Customers order and pay via touchscreen, then their request is sent to the kitchen where a cooking machine heats up the buns and patties. When it’s ready, a robot ‘waiter’ brings out their takeout bag.   

‘This is the first time I’ve actually seen such robots, so they are really amazing and fun,’ Shin Hyun Soo, an office worker at No Brand in Seoul for the first time, told the AP. 

Human workers add toppings to the burgers and wrap them up in takeout bags before passing them over to yellow-and-black serving robots, which have been compared to Minions. 

Also in Korea, the Italian restaurant chain Mad for Garlic is using serving robots even for sit-down customers. Using 3D space mapping and other technology, the electronic ‘waiter,’ known as Aglio Kim, navigates between tables with up to five orders.  Mad for Garlic manager Lee Young-ho said kids especially like the robots, which can carry up to 66lbs in their trays.

These catering robots look nothing like their human counterparts – in fact they are nothing more than glorified food trolleys so using our thumb rule from the movies, mankind is safe from imminent takeover but clearly  Korean hospitality sector workers’ jobs are not.

And right there is the dichotomy – replacement by stealth.  Remote-controlled robotic waiters and waitresses don’t need to be paid, they don’t go on strike and they don’t spread disease so it’s a sure bet their army is already on the march.

But there may be more redundancies on the way as well.  Have you noticed how AI designers have an inability to use words of more than one syllable?  So ‘robot’ has become ‘bot’ and ‘android’ simply ‘droid?  Well, guys, if you continue to build machines ultimately smarter than yourselves you ‘rons  may find yourself surplus to requirements too – that’s ‘moron’ to us polysyllabic humans”!

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