Question 1

What is Down Syndrome?

Accepted Answer

Down syndrome (21 trisomy) is a genetic disorder caused by having one more chromosome 21 than normal. This often results in intellectual disability and physical developmental delays. The incidence of Down syndrome is estimated to be 1 in 700.

Question 2

What are the characteristics of Down syndrome?

Accepted Answer

Some of the characteristics of Down syndrome include flat facial contours, small ears, a low nose, hung-up eyes, and low muscle tone. In addition, a single horizontal line is often seen on the palm of the hand, and the hands and fingers tend to be short.

Question 3

Is there a relationship between older age at birth and risk of Down syndrome?

Accepted Answer

The risk of Down syndrome increases with maternal age. For example, a 35-year-old woman has a 1 in 385 chance of having a child with Down syndrome. This risk increases with age.

Question 4

Is Down syndrome (21 trisomy) inherited?

Accepted Answer

Most cases of Down syndrome are caused by chromosome mutations, and the chance of inheritance is very low. However, in the case of a special type of Down syndrome called translocation, it can be inherited only if the parent is a carrier of the translocated chromosome.

Question 5

What tests should I take if I am possibly pregnant with a baby with Down syndrome?

Accepted Answer

Prenatal tests include ultrasound, NIPT (new prenatal diagnosis), quattro test, and amniotic fluid test, etc. NIPT and amniotic fluid tests provide results close to a definitive diagnosis and should be discussed with a physician as needed.

Question 6

What are the risks of complications that a child with Down syndrome (21 trisomy) may have?

Accepted Answer

Children with Down syndrome tend to have a higher risk of heart disease, gastrointestinal problems (such as duodenal obstruction), sensory problems (hearing loss, cataracts, strabismus), as well as thyroid dysfunction, leukemia, obesity, and Alzheimer's disease.

Question 7

What is the average life expectancy of a child with Down syndrome?

Accepted Answer

Due to medical advances, the average life expectancy for people with Down syndrome has increased to around 60 years. However, regular health care is important due to the high risk of complications.

Question 8

When do you know the characteristics of a baby with Down syndrome?

Accepted Answer

Features of Down syndrome often appear after birth, but prenatal testing can predict the likelihood of the condition. Echocardiography may reveal features such as edema at the back of the fetal neck (NT) and abnormal nasal bone formation.

Question 9

What are some ways to support the development of children with Down syndrome?

Accepted Answer

Children with Down syndrome can benefit from support called “rehabilitation and education”. This is an approach that combines medical care and education in parallel to maximize individual abilities and support independence. It is also important to establish a support plan in cooperation with specialized medical and educational institutions.

Question 10

Is it possible for a child with Down syndrome to enter the workforce?

Accepted Answer

Yes, many people with Down syndrome participate in society with support. With the support of welfare organizations, companies, and parent associations, and with appropriate education and training, many are active in their work and hobbies.

Question 11

What should parents be aware of when raising a child with Down syndrome?

Accepted Answer

Children with Down syndrome may have low physical strength and immunity, so infection control and health management are important. It is also important to start developmentally appropriate support and medical care at an early stage to draw out individual abilities.

Question 12

Do complications of Down syndrome appear in all children?

Accepted Answer

The incidence of complications varies from person to person. For example, heart disease is found in approximately 50% of children, but it does not appear in all children with Down syndrome. Early detection is possible through regular checkups by a physician.

Question 13

How can you support the motor skills of a child with Down syndrome?

Accepted Answer

Since muscle hypotonia and delayed motor development are common, it is effective to incorporate physical and occupational therapy. Gradually increase physical fitness and motor skills through an exercise program that is fun and enjoyable to participate in.

Question 14

Can Down syndrome be fully diagnosed prenatally?

Accepted Answer

Prenatal diagnosis (NIPT and amniotic fluid testing) can be performed with a high degree of accuracy, but definitive diagnosis requires amniotic fluid testing and chorionic villus examination. It is important to proceed with these tests after careful consultation with a physician.

Question 15

Does a child with Down syndrome need special dietary restrictions?

Accepted Answer

Generally, no special dietary restrictions are required, but it is important to ensure a balanced diet due to the high risk of obesity. In addition, if there are digestive problems, it is advisable to seek guidance from a physician or nutritionist.

Question 16

What does early care and education for children with Down syndrome consist of?

Accepted Answer

Early medical care and education includes training to promote language development, exercise therapy to support physical development, and play and learning to foster social skills. It is recommended to use support services provided by specialized institutions and local governments.

Question 17

What should I be aware of when choosing a daycare or school for my child with Down syndrome?

Accepted Answer

It is important to choose an environment that is appropriate for the individual's developmental status and needs. Candidates include daycare centers that provide care for children with disabilities, special needs schools, or facilities that offer inclusive education. Please make the best choice through visits and consultations.

Question 18

Can a person with Down syndrome be active in sports or the arts?

Accepted Answer

Yes, many people with Down syndrome have demonstrated talent in sports and artistic activities. Many are particularly good at visual cognition, so there are increasing examples of people who are active in painting, photography, and performing arts.

Question 19

What should be done if a baby with Down Syndrome has a sibling?

Accepted Answer

It is important to provide age-appropriate explanations and seek support so that siblings understand Down syndrome as well. It is also important for parents to share enough love and time with the siblings so that they do not feel isolated.

Question 20

What can parents do to prepare their child with Down syndrome for the future?

Accepted Answer

It is important to plan for the child's future life. Obtaining a disability certificate, using welfare services, making financial preparations, and utilizing legal assistance such as adult guardianship can enhance the child's independence and life support.

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CLINIC Information

お近くの医療機関で新型出生前診断が可能です

全国６７院連携クリニック

Our Clinics

「Amniotic Fluid Testing」のタグのついた記事

「Amniotic Fluid Testing」のタグ
のついた記事