Down syndrome is a genetic condition generally caused by an extra copy of chromosome 21, which causes the child to have some specific characteristics, such as small, rounded ears, upturned, rounded eyes and a small mouth, with a protruding tongue.
This syndrome, also known as trisomy 21, most often arises from an incorrect cell division of chromosomes during the development of the embryo, causing the child to have 47 chromosomes, instead of 46. Learn about other characteristics of Down syndrome.
As Down syndrome is the result of a genetic change, there is no specific treatment. However, physiotherapy, psychomotor stimulation and speech therapy are important therapies to stimulate and help the child’s development.
Main features
The most common characteristics of a person with Down syndrome are:
- Rounded and flat face;
- Small head;
- Short neck;
- Small, rounded ears;
- Small mouth with protruding tongue;
- Eyes slanted upwards, in an almond shape.
In addition, a person with Down syndrome may also have short stature, small feet and small, wide hands with short fingers.
Although people with Down syndrome do not always present all the characteristics of this syndrome, there is generally a delay in cognitive and intellectual development, which can cause difficulties in speech and learning, as well as a delay in developing other skills such as walking, sitting and holding objects.
Features of Down syndrome in babies
Babies and newborns with Down syndrome may have reduced muscle tone, making their body less rigid and causing difficulties in sucking, chewing, swallowing and supporting their head, for example.
Read too: How does a baby with Down syndrome develop?
Does Down syndrome have a degree?
Officially, Down syndrome has no degree. What can be noted is that there are differences in physical characteristics and physical and mental development between people with this syndrome.
It is important to highlight that the physical characteristics and development of a person with Down syndrome depend on many factors, such as the presence or absence of health problems, genetic factors, and appropriate stimuli, such as education, physiotherapy and speech therapy, for example.
How to confirm the diagnosis
The diagnosis of Down syndrome can be made by the obstetrician during pregnancy, through the nuchal translucency exam, which must be carried out between 11 weeks and 3 days, and 13 weeks and 6 days of pregnancy, ultrasound, cordocentesis or amniocentesis .
After birth, the diagnosis of Down syndrome is made by the pediatrician, through a physical examination of the baby and a karyotype exam, a genetic test to identify whether there is the presence of an extra chromosome 21.
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Possible causes
Down syndrome occurs due to a genetic change that causes an extra copy of all or part of chromosome 21.
According to changes in chromosome 21, the main types of Down syndrome are:
- Trisomy 21: This type of change is the most common in Down syndrome, and causes the child to be born with an extra copy of chromosome 21 in each cell they have, due to abnormal cell division during the development of the egg or sperm;
- Down syndrome with mosaic: It is a rare type of change that occurs due to an abnormal division of cells after fertilization, causing the child to have an extra copy of chromosome 21 in only some cells. Children with this type of change may present fewer characteristics of the syndrome;
- Translocation: This is the only form of Down syndrome that can be transmitted from parent to child, where translocation happens before or during conception, when an extra part or a complete copy of chromosome 21 is attached to another chromosome.
Some factors may contribute to the risk of genetic changes and development of Down syndrome, such as a family history of Down syndrome, having a child with Down syndrome and pregnancy after the age of 35, as the probability of genetic changes in older eggs increases from that age.
Treatment for Down syndrome
Treatment for Down syndrome varies according to individual needs and aims to promote development and improve the person’s quality of life.
Therefore, the treatments that the doctor may recommend are:
- Physiotherapy, with activities and exercises that help increase muscle strength and improve posture and balance;
- occupational therapy, which can help teach self-care skills, such as eating, dressing, brushing teeth, writing and using the computer, improving the person’s daily life;
- Speech therapy, to help improve conversation and pronunciation skills, help the baby breastfeed, and use alternative means of communication such as sign language and pictures;
- Psychotherapywhich can be administered by a psychologist or psychiatrist, for example, to help the person deal with their emotions and develop interpersonal skills and resilience.
In addition, educational therapy and early intervention are also recommended, which are specialized school programs and tools for children with Down syndrome and their families, which may include educators, speech therapists, occupational therapists, physiotherapists and social workers. See more details about treatments for Down syndrome.
Watch the following video and see the activities that help stimulate babies with Down syndrome:
Is Down syndrome a disability or an illness?
Down syndrome is a disability, or condition, not a disease, because people with this condition need special attention. However, most of the time people with Down syndrome are healthy and may become ill at some point.
What is the life expectancy of Down syndrome?
The average life expectancy of a person with Down syndrome is currently almost 60 years. Some people with Down syndrome live into their 80s.
Can a person with Down syndrome have children?
A person with Down syndrome can have children. However, a person with Down syndrome may have a low fertility rate, which may cause difficulty getting pregnant in some people.
Most common health problems
Some health problems that people with Down syndrome may develop are:
1. Heart defects
Cardiac changes are common in Down syndrome and can be identified during pregnancy through ultrasound. However, an echocardiogram is generally recommended after birth in babies, as changes such as an atrioventricular septal defect may be present.
Some heart changes can be controlled with the use of medications prescribed by your doctor, while others may require surgery to correct.
2. Blood problems
Children with Down syndrome have a greater risk of having blood problems, such as iron deficiency anemia or leukemia, which is a type of cancer that affects white blood cells in the circulation.
Therefore, blood tests such as blood counts and ferritin levels may be indicated in the monitoring of these children and iron supplementation may be recommended to treat anemia. In case of leukemia, chemotherapy may be indicated.
3. Hearing problems
It is common for children with Down syndrome to have hearing deficits, generally due to changes in the formation of the ear bones. Additionally, these children are at greater risk for ear infections and otitis media, which can worsen or cause hearing loss.
The ear test in newborns can indicate whether there is any hearing impairment. See some ways to test your baby’s hearing at home.
When a child has reduced hearing, the use of a hearing aid may be indicated, however, in some cases, surgery may be indicated. Furthermore, if an ear infection develops, you must carry out the treatment indicated by your doctor to cure the infection, preventing hearing loss.
4. Pneumonia
Due to the fragility of the immune system and changes in the airways, such as smaller airways, children with Down syndrome are at greater risk of developing respiratory diseases. Thus, any flu or cold can turn into pneumonia. Know how to recognize the first symptoms of pneumonia.
Therefore, it is recommended to eat a healthy diet and receive all vaccinations at the indicated ages, in addition to visiting your pediatrician regularly to identify any health problems as soon as possible to begin appropriate treatment.
5. Hypothyroidism
Children with Down syndrome have a higher risk of hypothyroidism, which occurs when the thyroid gland does not produce the necessary amount of hormones. This change can be detected during pregnancy, after birth or develop throughout life.
The doctor may prescribe hormonal medications to meet the body’s needs, but it is necessary to carry out blood tests to measure the levels of TSH, T3 and T4 every 6 months to adjust the dose of the medication.
6. Vision problems
Some children with Down syndrome may have vision problems, such as myopia and strabismus, and may be at greater risk of developing cataracts.
Therefore, it is important to consult an ophthalmologist regularly, starting in the first 6 months of life and then annually. The use of corrective lenses or surgery may be recommended by your doctor to correct these conditions.
7. Sleep apnea
A child with Down syndrome may have sleep apnea due to changes in the skeleton and soft tissues, making it difficult for air to pass through the airways during sleep, causing snoring and short moments of stopping breathing while sleeping.
The treatment of sleep apnea must be guided by a doctor who may recommend surgery to remove the tonsils to facilitate the passage of air or recommend the use of a small CPAP device to place in the mouth to sleep. Check out the recommended treatments for sleep apnea
8. Dental changes
A child with Down syndrome may have some dental changes, such as delayed appearance and lack of teeth alignment. In addition, periodontal disease may also occur due to poor oral hygiene.
Right after each feeding, parents should clean the baby’s mouth very well using clean gauze to ensure that the mouth is always healthy, which helps in the formation of baby teeth. Furthermore, it is important to see a dentist as soon as your first tooth appears and then every 6 months for regular checkups.
In some cases, it may be necessary to place braces on your teeth so that they remain aligned and functional.
9. Digestive problems
In Down syndrome there is a greater risk of digestive problems, such as intestinal atresia or stenosis, gastroesophageal reflux, difficulty swallowing and constipation. Surgery may be recommended by your doctor to treat some of these problems.
In addition, children with the syndrome are also at greater risk of celiac disease, and regular screening may be indicated through blood tests such as tissue transglutaminase-IgA measurement.
Read too: Celiac disease: what it is, symptoms, diagnosis and treatment
10. Spine injury
Some children with Down syndrome may have a misalignment in the cervical spine, increasing the risk of injuries that can cause difficulty moving their arms, hands or legs, fecal or urinary incontinence.
Therefore, in the first 5 months of life it is necessary to keep the baby’s neck safe at all times, and whenever you pick him up, support his head with your hand, until the baby has enough strength to keep his head steady.
