Symptoms of Down syndrome The severity of the signs of Down Syndrome varies from one patient to another, but in general they range from mild to moderate, and children who suffer from it have the same physical features. Follow this article with us to learn how Down Syndrome is diagnosed at Al Mousa Specialist Hospital and the methods of rehabilitating Down children. 

Down syndrome

It is a hereditary disease whose patients are characterized by a set of distinctive physical and developmental characteristics, as a result of a defect in the normal number of chromosome 46, so a patient with Down syndrome has 47 chromosomes. This extra chromosome affects brain development, leading to the appearance of symptoms. 

It is worth noting that doctors have not yet discovered the specific reason for these chromosomal changes, but there are several factors that can increase the risk of the fetus developing Down Syndrome, among these factors:

• Age of the mother and father. As the age of the mother and father increases, the risk of Down syndrome increases. 
• One parent carries a chromosome transmission. 
• Having a previous child with Down syndrome. 

ما هي The most dangerous type of Down syndrome؟ دليل مبسط وموثوق

What are the symptoms of Down syndrome?

Although the severity of Down syndrome symptoms varies from one person to another, in general the disease leads to a group of distinct physical and mental characteristics, including the following:

• Physical features, such as distinctive facial features such as upward-slanting eyes, a flat nose, small ears, small white spots on the iris, and excess skin at the back of the neck. 
• Muscle weakness, which leads to joint laxity and delayed motor development. 
• Short in stature, with small hands and feet and a short neck.
• Suffering from some health problems, such as congenital heart defects, digestive system problems, thyroid problems, hearing and sight problems, or immune system problems.
• Delayed cognitive and behavioral development. They may be delayed in speaking and developing language skills.
• Suffering from learning difficulties. 
• Suffering from behavioral problems such as attention deficit or hyperactivity. 

 How to diagnose Down Syndrome

Down Syndrome is diagnosed and detected at Al Mousa Specialist Hospital during pregnancy or after birth, through the following tests:

Diagnosis during pregnancy 

• Blood tests and ultrasound, at the end of the first trimester, measure the thickness of the back of the fetus’s neck. If the test results indicate a risk, the doctor recommends performing the following diagnostic tests.
• Fetal albumin test, i.e. fetal protein test, is a mother’s blood test that is performed in the second trimester of pregnancy, where some compounds are measured in the mother’s blood, through which the possibility of the fetus being affected by Down syndrome can be estimated or other problems in the fetus can be detected. 
• Amniocentesis, a sample of the amniotic fluid surrounding the fetus is withdrawn for chromosomal analysis, usually performed in weeks 15 and 20 of pregnancy.
• Chorionic villus sampling, for chromosomal analysis, is usually performed between weeks 10 and 13 of pregnancy.
• Free fetal DNA analysis, which is a simple blood test for the mother, where the DNA circulating in the mother’s blood is analyzed for the fetus, and it is a very accurate test in detecting Down syndrome. 

While diagnostic procedures for Down Syndrome after birth at Al Mousa Specialist Hospital include the following:

• Physical examination of the child, where doctors can identify the many distinct physical characteristics of Down syndrome at birth.
• Chromosomal analysis: The doctor takes a sample of the child’s blood to analyze the chromosomes and confirm the diagnosis.

يمكنك حجز استشارتك الآن في Well-being center At Al-Mousa Specialized Hospital.

 How to rehabilitate children with Down syndrome

The process aims to rehabilitate children Down syndrome At Al Mousa Specialist Hospital, we aim to help children make the most of their potential and develop their skills in various aspects of life. 

Since every child with Down syndrome is unique, care must be taken to ensure that the rehabilitation design is appropriate to meet the child’s individual needs. The most important aspects of rehabilitation include the following:

• Early intervention, from birth, when the child’s brain is more flexible and capable of development, aims to improve language, motor, social, and cognitive skills. Early intervention includes physical therapy, speech therapy, occupational therapy, and behavioral and educational interventions.
• Regular medical examinations. Children with Down syndrome must undergo regular medical examinations to detect and treat any health problems.  
• Physical therapy focuses on improving the child's muscle strength, balance, and motor coordination, helping children acquire basic motor skills such as sitting, crawling, and walking.
• Speech therapy: Speech therapy aims to improve speech, communication, and language skills. It includes exercises to improve oral muscle strength, learn words and sentences, and develop conversation skills. 
• Occupational therapy aims to help children gain independence and self-reliance, as it focuses on developing daily life skills, such as dressing, eating, and personal hygiene.
• Behavioral and educational interventions aim to improve the child’s behavior, focus, attention, and social skills, which includes social skills training, behavior modification, and providing a supportive educational environment.
• Special education: Children with Down syndrome need to receive special education tailored to their individual needs, where the focus is on developing academic, social, and life skills.
• Family support, as the family has a vital role in rehabilitating children with Down syndrome, so the family must receive the necessary support and guidance to deal with the challenges it faces.
• Psychological and social support, including injured children and their families as well, in terms of providing advice and guidance, providing support groups, and enhancing self-confidence.

Frequently asked questions about the symptoms of Down syndrome

What are the signs of mild Down syndrome?

Mild Down syndrome refers to mosaic Down syndrome, where some of the body's cells contain an extra copy of chromosome 21, while other cells contain the normal number of chromosomes. Therefore, the symptoms are less clear and less severe than the other full types of Down syndrome. The signs that indicate mild Down syndrome appear as follows:

•  Facial features are less clear. Eyes that are slanted upward are less distinct, a flat nose is less prominent, and ears are slightly smaller than usual. 
• Mild intellectual disability and slight developmental delay, where the child is slightly delayed in reaching developmental stages such as sitting, walking, and speaking.
• Mild muscle weakness, so the child has some looseness in the joints, but it is less pronounced than full-blown Down syndrome.
• Less severe health problems. The child may be more likely to develop some health problems, such as heart defects or thyroid problems, but they are less severe and easier to treat.

Can a Down child be normal?

The answer to this question may be shocking to parents of children with Down syndrome, as a child with Down syndrome cannot be normal in the traditional sense. 

Because Down syndrome is a genetic condition resulting from the presence of an extra copy of chromosome 21, which means that each cell in the child’s body contains 47 chromosomes instead of 46.

However, it is important to understand what normal means, as children with Down syndrome have differences in growth and development compared to children without the condition.

Children with Down Syndrome have a wide range of abilities and potentials, and with appropriate support, rehabilitation and early intervention, they can achieve many achievements in their lives, live happy and fulfilling lives, and fully integrate into society.

When does the doctor detect Down syndrome?

Doctors can detect Down syndrome during pregnancy or after birth, through screening tests such as blood tests and ultrasound during pregnancy, and diagnostic tests such as chorionic villus sampling, amniocentesis, and free fetal DNA analysis. 

While postpartum examinations include a physical examination and chromosomal analysis, we have mentioned all diagnostic methods in detail above.   

Does folic acid protect against Down syndrome?

No studies have yet proven that folic acid can directly protect against Down syndrome, but some research indicates that taking folic acid before pregnancy reduces the possibility of birth defects. 

Folic acid is also very important for pregnant women or those planning to become pregnant, as it has a role in healthy fetal growth and preventing neural tube defects, which are serious congenital malformations of the brain and spinal cord, such as spina bifida. 

Therefore, doctors advise taking folic acid at least three months before pregnancy, and continuing to take it during the first three months of pregnancy

In conclusion, in some cases it may be difficult to diagnose the signs and symptoms of mild Down Syndrome, as not all symptoms may appear on the child or they may be very mild, and it requires experience and skill from the doctor in addition to modern methods of diagnosis, and this is what is available at Al Mousa Specialist Hospital, Children’s Center, Children’s Clinic for Down Syndrome. 

If you suspect that your child may have mild Down syndrome, it is important to consult a doctor specializing in genetics, and you can contact us on our numbers listed on the website for more details, reservations, and inquiries. 

Medical references 

What is Down syndrome – medlineplus

Down Syndrome – cdc