【World Down Syndrome Day】Pay attention to the forgotten angels

In 1866, Dr. John Langdon Down discovered that there was a group of people with the same characteristics, so he named the syndrome Downs Syndrome, or trisomy 21, after his surname Down. As the name suggests, the disease is a special phenotype of intellectual disability caused by congenital factors. The International Down Syndrome Organization has officially named March 21 as "World Down Syndrome Day", implying the uniqueness of chromosome 21 trisomy that Down patients have.

01 What are the characteristic manifestations of Down syndrome?

1. Special facial features

The eyes are widely spaced, the palpebral fissures are small, the root of the nose is low, the tongue is fat and often sticks out of the mouth, and there is a lot of drooling. The stature is short, the limbs are short, the joints can be overactive due to loose ligaments, the fingers are short and thick, and the palm lines are often connected. The feet are like straw sandals. About half of the children have arched skin lines on the ball of the big toe.

2. Intellectual Disability

The symptoms of mental retardation become more obvious with age.

3. Delayed sexual development

Boys will not be able to reproduce when they grow up; girls will have menstruation when they grow up and may be able to reproduce.

4. Other deformities or structural abnormalities

Such as congenital heart disease, low immune function, and susceptibility to various infections.

02 Is this a common disease?

The incidence of Down syndrome is between 1/800 and 1/1000. Down syndrome, also known as trisomy 21, occurs randomly without any signs or obvious family history. Even healthy couples may give birth to children with Down syndrome. Generally, blood samples are drawn from pregnant women at 15 to 20 weeks of pregnancy for testing, and the incidence of Down syndrome is determined based on the age, gestational age, and weight of the pregnant woman.

03 How to prevent it?

Don’t lower your awareness of Down syndrome just because you are not an elderly pregnant woman. All births carry the risk of the disease. Down syndrome screening is a particularly important test during pregnancy and is an important and effective way to find babies with defects. Expectant mothers should pay great attention to it!

Down syndrome screening is performed by measuring the concentrations of alpha-fetoprotein (AFP), human chorionic gonadotropin (β-HCG) and free estriol (E3) in maternal serum, and combining it with clinical information such as the pregnant woman's age, weight, smoking status, and whether she has any disease to calculate the risk of fetal congenital defects. The general accuracy rate is 70~80%.

04 Interpretation of the results Down syndrome screening is only a screening test. Do not induced labor based on the test results to conclude that the baby has problems. If the screening results show a high-risk situation, further amniocentesis is required to check the fetal chromosome karyotype. Down syndrome screening test results are usually divided into low risk, high risk and critical risk.

● Low risk: This means that the risk of Down syndrome is relatively low and the patient is considered normal. Subsequent prenatal checkups are normal and no special treatment is needed for the time being;

● High risk: The risk of Down syndrome is relatively high and prenatal diagnosis, i.e. amniocentesis, should be performed;

● Borderline risk: Also known as the gray zone, it usually means that you are not very confident that there is a possibility of Down syndrome, but it is not to the extent that amniocentesis is necessary. In the gray zone, it is recommended to do a non-invasive DNA test in peripheral blood (after 12 weeks and before 26 weeks).

05 How to intervene in Down syndrome babies?

Down syndrome is caused by chromosomal abnormalities. There is currently no cure, and the only option is to carry out corresponding rehabilitation interventions based on the clinical manifestations of the child.

1. Exercise therapy

It mainly includes training to enhance motor skills, increase muscle strength, and improve balance. Physical therapy is important, especially in the early stages of a child's life, because motor skills are the foundation for the development of other skills. The ability to roll over, sit, and crawl will help babies expand their activities, increase their cognitive range, and participate in communication and interaction with others.

2. Speech-language therapy

Language barriers are a big problem that all "sugar babies" have to face. Without language skills, the development and help they receive will definitely be greatly reduced. Improving their communication skills and using language more effectively is one of the most urgent rehabilitation contents in early childhood.

Babies with Down syndrome learn to speak later than their peers. Speech therapists can help them develop the early skills needed for communication, such as imitating sounds and understanding instructions. Other techniques can also be used to exercise oral function through swallowing, sensory desensitization, oral muscle training, etc. Children with Down syndrome often have difficulty acquiring language early on, but in order to maintain the development of language thinking, alternative communication methods such as gestures and pictures can be used.

3. Occupational therapy

Daily training tasks and courses are developed according to the individual needs and abilities of each "sugar baby", such as self-care skills such as eating, dressing, and toileting. Occupational therapists can improve their daily living activities through assistive devices, such as easier-to-hold tableware and water cups.

If you see such a "face" - a mouth that is often open, a slightly blank look, and widened eyes, please do not show any surprise, fear or even disgust. Tangbao is an angel sent by God. They have the right to survive and the right to pursue a happy life. Please treat them as you would treat normal people and accept them with a broad and loving heart. Slowly, you will find that everything is not so terrible. Our babies are so cute and so strong!