Down Syndrome – Causes, Symptoms & Treatment

Down Syndrome screening takes place in most pregnancies, especially in pregnancies with advanced maternal age. However, few parents know exactly what to expect should their child be born with Down syndrome. We’ve compiled everything you need to know about Down syndrome in this quick guide.

What is Down Syndrome?

Down syndrome is a genetic condition caused by an extra copy of chromosome 21. Signs of the disorder are typically present at birth, and diagnosis may even take place in the womb.

Down syndrome

Down syndrome occurs in about 1 in every 700 live births. Screening often takes place during pregnancy, especially when the mother is over the age of 35. Blood tests and advanced ultrasounds can let expecting parents know the likelihood of their child being born with Down syndrome.

Down syndrome impacts a person’s physical features, cognitive abilities, and overall development. It also increases the likelihood of developing some other health conditions like vision disorders, seizures, hearing loss, and hypothyroidism. In addition, approximately half of all Down syndrome children are born with a congenital heart defect that may require surgery.

Symptoms of Down Syndrome in Children

Signs of Down syndrome in kids include:

  • Poor muscle tone
  • Short stature
  • A flat nasal bridge
  • A protruding tongue
  • Small ears
  • An upward slant to the eyes
  • A flattened face
  • Almond-shaped eyes
  • Small hands and feet
  • Palmar crease (line on the palm)
  • Lazy eye
  • Loose joints
  • Short neck with excess skin

In addition, children with Down Syndrome may experience developmental delays, learning difficulties, and behavioral issues such as hyperactivity or trouble focusing in school.

Causes of Down Syndrome in Children

Down syndrome is a genetic condition most often caused by an extra copy of chromosome 21.

This extra copy of chromosome 21 is known as Trisomy 21 and is caused by abnormal cell division during the formation and development of sperm or egg cells. Less commonly, Down syndrome can be caused by part of chromosome 21 becoming attached (or translocated) to another chromosome during cell formation, resulting in extra material from chromosome 21.

While Down syndrome does not usually run in families and is not hereditary, there may be some links to genetics in cases of Down syndrome caused by translocation.

Risk factors for a child being born with Down syndrome include advanced maternal age, being genetic carriers of the translocation for Down syndrome, and having already had another child with Down syndrome.

Treatment of Down Syndrome in Children

While Down syndrome has no cure, symptoms and behavioral issues can be managed. Early intervention is especially helpful in improving the lives of children born with Down syndrome.

A team of specialists such as physicians, physical therapists, speech therapists, and occupational therapists can help your child thrive. Kids with Down syndrome should be eligible to receive extra support at school and may be given an Individualized Education Program (IEP) to help them succeed. Developmental delays are common but can be overcome with the right services.

A person with Down syndrome should be able to live a healthy and fulfilling life that includes attending school, living and working semi-independently, and even getting married.

In some cases, surgery or medication may be required to treat accompanying health conditions such as heart defects.

If you have any questions about Down syndrome, give us a call today to schedule a visit with one of our friendly board-certified pediatricians in littleton.