Down Syndrome In Children: Cause, Symptoms And Management

It is not genetic, and early and timely care can help improve your child's quality of life.

Medically reviewed by Dr. Dur Afshar Agha, MS Dr. Dur Afshar Agha Dr. Dur Afshar AghaMS facebook_iconinsta_icon Specialty: Masters of Tropical PediatricsExperience: 26 years
Written by Dr Bisny T. Joseph Dr Bisny T. Joseph
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Down Syndrome In Children: Types, Causes And Symptom

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Down syndrome in children is a genetic disorder that causes physical and mental developmental disabilities and delays. A child has down syndrome when born with an extra copy (partial or complete) of chromosome 21; hence, the disorder is also known as trisomy 21.

The extra chromosome affects the brain and body development. So most children with Down syndrome are vulnerable to intellectual disability, behavioral issues, and certain health problems. Also, they have distinctive features that often make them look different. However, its early diagnosis and treatment can help most children live healthy and productive lives.

Scroll down to know more about the signs and symptoms, types, causes, risk factors, diagnosis, and treatment of Down syndrome in children.

Signs And Symptoms Of Down Syndrome

The signs and symptoms of Down syndrome may vary among children. While some children with Down syndrome can be healthy, others might have severe issues, such as heart defects. Also, the severity of intellectual and developmental problems in children with Down syndrome may vary.

The common signs and symptoms of Down syndrome may include (1) (2):

  • Small head
  • Short neck
  • Flat face
  • Protruded tongue
  • Upward slanting eyes
  • Poor muscle tone
  • Increased flexibility in the joints
  • Tiny feet and hands with short fingers
  • Small or unusually shaped ear
  • Brushfeild spots (white spots on the iris)
  • Short height compared with their peers
  • Mild to moderate cognitive impairment
  • Delayed language and speech development
  • Memory problems

Types Of Down Syndrome

Down syndrome can be of three types based on the following three genetic variations (3):

  • Trisomy 21: This is the most common genetic variation seen in children with Down syndrome. In this condition, three copies of chromosome 21 are present in all cells instead of the usual two copies. Abnormal cell division during egg or sperm development can be responsible for this.
  • Mosaic Down syndrome: This is a rare form in which an extra copy of chromosome 21 is present in some cells.
  • Translocation Down syndrome: In this type of Down syndrome, an extra part or a whole copy of chromosome 21 is attached to another chromosome instead of being separate.

Causes Of Down Syndrome

Humans normally have 23 pairs of chromosomes, with one chromosome in each pair from both parents (4). The presence of a full or partial extra chromosome 21 material due to abnormal cell division causes Down syndrome in most children.

Chromosomal abnormalities can occur at random events during egg or sperm formation or fertilization. There is no evidence of environmental factors or behavioral factors of parents causing Down syndrome (5).

Although most cases of down syndrome are not inherited, in some rare cases, translocation Down syndrome can be passed on from a parent to the child (4).

Risk Factors For Down Syndrome

The following factors may increase your risk of having a baby with Down syndrome (6):

  • Advanced maternal age: Your risk of having a baby with Down syndrome may increase with age since older ovum (egg) has more risk for abnormal chromosome division. Usually, the risk increases after 35 years of age. However, babies with Down syndrome are also born to mothers younger than 35.
  • Carrier of genetic translocation for Down syndrome: Although rare, a child may develop Down syndrome if any of the parents passes the genetic translocation to them.
  • Siblings with Down syndrome: Parents who have a child with Down syndrome, and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome.

Parents are advised to seek a genetic counselor’s advice if they have an increased risk for having a second child with Down syndrome.

Complications Of Down Syndrome

The possible complications of Down syndrome in children may include (2) (7):

  1. Heart defects: About 50% of children with Down syndrome are born with life-threatening congenital heart defects requiring surgery in early infancy.
  1. Immune disorders: Children with Down syndrome are more likely to develop autoimmune disorders, cancers such as leukemia, and infectious diseases such as pneumonia due to immune abnormalities.
  1. Gastrointestinal (GI) defects: Down syndrome may increase the risk of abnormalities of the intestines, esophagus, and anus. These may often result in GI blockage, acid reflux (heartburn), and celiac disease in some children.
  1. Spinal issues: Misalignment of the first two vertebrae, often called atlantoaxial instability, is seen in some children with Down syndrome. This may cause injury to the spinal cord if the neck is overextended.
  1. Obesity: There is an increased risk of obesity in children with Down syndrome.
  1. Sleep apnea: Changes in soft tissues and skeletal system may contribute to airway obstruction in some children with Down syndrome.
  1. Dementia: Down syndrome may increase one’s risk of developing Alzheimer’s disease in the 50s, and Alzheimer’s disease may contribute to dementia.
  1. Dental issues: Children with Down syndrome are at an increased risk of having Teeth damages and gum diseases.
  1. Seizures: The risk for seizures is higher in children with Down syndrome than in the general population. This can be due to the reduced inhibition of electrical pathways in the brain.
  1. Endocrine abnormalities: Children with Down syndrome are also at a higher risk of having endocrine abnormalities, with hypothyroidism being the most common one.
  1. Vision problems: Visual acuity issues may also be seen in children with Down syndrome, and they may require corrective glasses from a very young age.
  1. Ear infections and hearing issues: Facial anatomy and upper respiratory tract infections may often contribute to ear infections in children with Down syndrome. Infections may also cause conductive hearing loss.

The complications may occur or worsen with advancing age. Regular follow-up is recommended to identify and treat the complications before they worsen.

When To See A Doctor?

Down syndrome is usually diagnosed before birth or at birth. Pediatricians may plan the follow-ups depending on the severity of the child’s condition. Children with coexisting issues, such as heart problems, may require more frequent visits and procedures than those with milder cases.

Talk to your child’s pediatrician to know the individualized plan of care. Early training and treatments may help improve the quality of life in most children with Down syndrome.

Diagnosis Of Down Syndrome

The American College of Obstetricians and Gynecologists recommends all pregnant women undergo screening and diagnosis for Down syndrome during pregnancy regardless of age. Newborns may also be screened for Down syndrome if required. Diagnostic and screening tests for Down syndrome may include (2) (8):

1. Screening tests during pregnancy

Screening tests predict the likelihood of a mother carrying a baby with Down syndrome during pregnancy. These tests are often offered as part of routine prenatal care and help identify the need for more specific diagnostic tests.

First trimester combined test and integrated screening test are common screening tests for Down syndrome during pregnancy. The first trimester combined test is done in two steps, and the result, along with maternal age, helps establish the possible diagnosis. The two steps include:

  • Blood test: This helps determine the levels of the pregnancy hormone human chorionic gonadotropin (HCG) and pregnancy-associated plasma protein-A (PAPP-A). Abnormal levels may indicate problems in the fetus.
  • Nuchal translucency test: This test entails using ultrasound to measure specific areas on the back of the fetal neck. Increased fluid in the neck area may indicate fetal abnormalities.

The integrated screening test combines the test results in the first and second trimester of pregnancy. Blood levels of four pregnancy-associated substances, namely alpha fetoprotein, estriol, HCG, and inhibin A, in the second trimester (known as the quad screen) may help identify the possibility of Down syndrome.

Usually, second-trimester screening tests are recommended for suspected cases from the initial screening tests.

2. Diagnostic tests during pregnancy

The following diagnostic tests during pregnancy are recommended for women with positive screening test results.

  • Chorionic villus sampling (CVS): This test analyzes fetal chromosomes on cells collected from the placenta. It is usually done between 10 and 13 weeks of gestation and poses a low risk for pregnancy loss (miscarriage).
  • Amniocentesis: This test is done to analyze fetal chromosomes in the amniotic fluid sample collected from around the fetus using a needle. It is performed after 15 weeks of gestation and carries a low risk of miscarriage.
  • Cordocentesis: Also called percutaneous umbilical blood sampling, this involves collecting fetal chromosomes from the umbilical cord for testing.

3. Preimplantation genetic testing

Preimplantation genetic diagnosis is made through in vitro fertilization (IVF), primarily if the parents have known risk factors. The embryo is tested for genetic abnormalities before it is implanted in the womb. Only healthy embryos are implanted into the uterus in IVF.

4. Diagnostic tests in newborns

Physical features are often examined to help diagnose Down syndrome in newborns. However, it is essential to do genetic testing since these features are also seen in children without Down syndrome. Your doctor could likely order a test called chromosomal karyotyping, in which a sample of your child’s blood is tested to analyze your child’s chromosomes.

Treatment For Down Syndrome

There is no specific cure for Down syndrome. However, early diagnosis and treatments may improve the quality of life in most children. Early interventions, including specialized programs and resources, are beneficial. Treatment options are planned based on the individual requirements. Doctors from various specialties are involved in Down syndrome care since multiple anomalies are often seen.

The common treatments for Down syndrome include (9):

  • Surgeries for cardiac defects and gastrointestinal anomalies.
  • Physical therapy, such as activities and exercises. This may help increase muscle strength, improve balance and posture, and build motor skills.
  • Speech and language therapy. This may help with speech and language development.
  • Occupational therapy. This may help your child develop self-care skills such as dressing up, using a computer, and writing.
  • Behavioral and emotional therapies. These may help your child deal with their emotions.
  • Drugs and supplements such as psychoactive drugs and amino acid supplements. These may be prescribed depending on the symptoms.
  • Assistive devices. These are often recommended to help improve the child’s quality of life.

Advanced medical care and follow-ups play a role in increasing life expectancy in children with Down syndrome. If managed well, depending on the severity of the condition, a person with Down syndrome can live more than 60 years. You may discuss with the pediatrician to know the exact prognosis based on individual factors.

Can Down Syndrome Be Prevented?

Down syndrome is not a preventable condition. Genetic counseling is recommended for parents with an increased risk of having a child with Down syndrome. A genetic counselor may help identify your risk of having a baby with Down syndrome and suggest prenatal diagnostic tests (7).

Frequently Asked Questions

1. What is the average lifespan of a child with Down’s syndrome?

The current average lifespan of a child with Down’s syndrome is 60 years, and this number continues to rise (10).

2. Does Down’s syndrome run in the family?

Most often, Down’s syndrome is not genetic. Other factors, such as advanced maternal age, can be greater risk factors than genetics (11).

3. Is Down’s syndrome a learning difficulty?

Children with Down’s syndrome will experience some level of learning difficulties. The level of difficulty may be comparatively less in some children while advanced in others (11).

Small head, short neck, upward slanting eyes, low muscle tone, memory issues, speech difficulty, and other physical and mental developmental impairments and delays might indicate Down syndrome in children. It is frequently detected before birth, and genetic testing can confirm the diagnosis after delivery. Your child’s doctor may arrange follow-ups and visits based on the disease severity and associated complications. Seeking help from friends, family, and support organizations, and educating yourself about the condition, may be useful to improve your child’s quality of life. Most children with Down syndrome may live independently later in life with the right care and resources.

Key Pointers

  • Down syndrome is usually caused by trisomy of chromosome 21, resulting in developmental disorders in children.
  • Small head, short neck, flat face with upward slanting eyes are some identifying features of children with Down syndrome.
  • Advanced maternal age and having siblings with the disorder have been recognized as risk factors.
  • The condition is diagnosed before or right after birth, and treatment is based on the complications.

References

1. What are common symptoms of Down syndrome?; Eunice Kennedy Shriver National Institute of Child Health and Human Development
2. Down Syndrome; St. Clair Health
3. Facts About Down Syndrome; Centers for Disease Control and Prevention
4. Down Syndrome (Trisomy 21); MSD Manual
5. What Causes Down Syndrome?; Eunice Kennedy Shriver National Institute of Child Health and Human Development
6. Down Syndrome; Golisano Children’s Hospital
7. Down Syndrome (Trisomy 21) In Children; Lucile Packard Children’s Hospital, Stanford
8. What Is Down Syndrome?; National Down Syndrome Society
9. Trisomy 21 (Down Syndrome); Children’s Hospital of Philadelphia
10. Down Syndrome Life Expectancy Is Higher, But Not For Everyone; Nationwide Children’s
11. What is Down’s syndrome?; NHS
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Dr. Dur Afshar Agha
Dr. Dur Afshar AghaMS
Dr. Dur Afshar Agha is a consultant pediatrician with around 26 years of experience in various medical facilities both in Pakistan and Saudi Arabia. She has headed the Department of Preventive Pediatrics at the prestigious, Children’s Hospital and Institute of Child Health in Pakistan and is a life member of the Pakistan Paediatric Association.

Read full bio of Dr. Dur Afshar Agha
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