When a woman’s age impact risk of Down syndrome in her baby

Dear doctor,

My sister’s child has Down syndrome and I am worried that when I give birth, my baby will also have the disorder. I am four months pregnant. Is there a way to test for it? Can it be prevented?

Hellen

Dear Hellen,

Down syndrome is a genetic disorder that occurs due to the presence of an additional chromosome. Chroosomes are packages of genetic material or DNA and each person usually has 23 pairs or 46 chromosomes. In down syndrome, there is an extra copy of chromosome number 21, so there are a total of 47 chromosomes in the body.

The chromosomes carry genetic material that “codes” how our body develops. Having an extra chromosome changes how the baby develops, leading to development of specific physical features and may lead to both physical and mental challenges. The impact of down syndrome differs from person to person. The symptoms may include having a flattened nasal bridge, slanted eyes, small ears, short neck, small hands and feet, one crease across the hand, short stature, weak muscles and joints. Persons with down syndrome may have developmental delays and learning difficulties. Down syndrome also increases the risk of developing complications with eye sight, hearing, the digestive system, endocrine system and heart problems. It is also associated with some blood disorders, including having an increased risk of developing leukemia (blood cancer).

There is no known cause of down syndrome though there’s a higher risk of getting a baby with down syndrome if the mother is over 35 years of age during the pregnancy. Since there’s no specific known cause, then there’s no definite way to prevent it.

There are blood tests that can be done from the pregnant mother’s blood to determine the risk of the baby having down syndrome in addition to ultrasound scans. If down syndrome is suspected, more invasive tests may be done during pregnancy, where a sample is taken from the amniotic fluid, the placenta or from the umbilical cord. There is no cure for down syndrome. However, some of the complications can be addressed if diagnosed early. A child or adult with down syndrome may benefit from physical therapy, occupational therapy, speech therapy, individualised educational programmes and self-care training among others. The child and the parent dealing with down syndrome also require a supportive social network.

I have an 11-year old son who stutters a lot when he speaks. This has really affected his self-esteem, especially now as he nears teenagehood. He is not even able to socialise well with his peers. What can be done about it? John

Dear John,

Stuttering is a speech disorder where there are problems with speech fluency and flow. The person knows what to say but has difficulty saying it. It normally occurs in young children between two and six years of age as part of learning how to speak, and most children eventually outgrow the stutter. Adults may also experience it when nervous or when in high stress situations.

However, stuttering may continue beyond the age of six years, or it may start in adulthood, causing challenges with verbal communication and may negatively impact self-esteem, social and professional interactions.

Symptoms include:

  Difficulty starting a word

Repeating a syllable or a sound

Prolonging a word or a sound

Not pronouncing particular sounds, leading to formation of a broken word

Interrupted speech/speech block

Excess muscle tension, rigidity or movement of the face and/or upper body when pronouncing a challenging word.

There may also be rapid blinking, tremors of the facial muscles, head jerking and clenching of the fists.

  Anxiety about speaking, especially in front of a group

The symptoms may be worse when tired, excited or stressed, and the symptoms may be absent in comfortable settings, when speaking to self, when singing, or when speaking in unison with someone else.

Stuttering that starts in childhood may develop as a result of genetics or due to motor speech disorders. For stuttering that develops later in life, it may be a result of a stroke, traumatic brain injury or other brain disorders.

It is advisable for the child to be reviewed by a paediatrician and developmental specialist to check for any underlying problems and related conditions. Then the child will be referred to a speech language pathologist for evaluation and speech therapy. The child may also benefit from psychotherapy to address anxiety, low self-esteem and any other psychological challenges.
 How the parent interacts with the child is also very important:

Accept the child as he is.

Listen attentively when the child speaks, take turns talking and maintain natural eye contact. Avoid distractions while speaking to your child and create a relaxed atmosphere.

Wait for him to complete what he is saying. Do not jump in or complete a word or sentence for him.

When speaking to him, speak slowly, which usually leads to a response from the child

Do not criticise

At home, practise techniques that are taught by the speech language pathologist

Dear Dr Flo,

What causes fibroids?

Dear reader,

Fibroids are growths in the uterus made up of fibrous and muscle tissue. They are not cancerous. Fibroids have no known cause. The growth of the fibroids is associated with the hormone oestrogen, which is produced by the ovaries during the menstrual cycle. The occurrence of fibroids is higher in women aged between 30 and 50, and fibroids tend to shrink in menopause. Most people with fibroids do not experience any symptoms, or the symptoms are mild. For those who experience symptoms, they may include low abdominal pain, back pain, heavy bleeding during periods, very painful periods, constipation, passing urine frequently or discomfort during sexual intercourse. In a few women, fibroids can lead to infertility or complications during pregnancy.

Treatment may involve medication to manage pain or bleeding or to shrink the growths. Surgery may also be recommended to remove the fibroids, or remove the entire uterus.

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