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  • Down syndrome (DS)
    Down syndrome (DS)
  • Also called Trisomy 21
    Also called Trisomy 21

Down syndrome is caused by abnormalities in a baby’s DNA. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

  • What is the risk of having a child with Down’s syndrome?

    Maternal age is the only factor that has been linked to an increased chance of having a child with Down syndrome. The risk increase with the mother’s age at pregnancy.

    •   1:385 risk at 35 years

    •   1:106 at 40 years

    •   1:30 at 45 year

    The risk also increases after a previously affected pregnancy :

    •   With regular trisomy 21, the recurrence risk is 0.75% at 12 weeks; 0.42% during the middle trimester and 0.34% at term.

    •   Following trisomy due to a translocation, the recurrence risk is dependent on the type of translocation and which partner carries the translocation.

    •   People with Down's syndrome rarely have children. Of maternal offspring, less than half have Down's syndrome.

  • What is the prognosis of Down’s syndrome children?

    The prognosis for people with Down's syndrome depends on the nature and severity of any associated condition. Life expectancy is improving, especially because of improved diagnosis and management of those people with Down's syndrome who also have congenital heart defects.At least half of people with Down's syndrome now live into their 50s and 60s.

  • What are the treatment modalities available for treating such children?

    Treatment for Down syndrome focuses on making sure that your child has regular medical checkups, watching for early signs of health problems, and finding support. Children with Down syndrome do learn and are capable of developing skills throughout their lives. They just follow a different pace in achieving their unique set of skills and abilities.

    Typically a doctor would evaluate the child and prescribe therapies based on their needs. These may include special educators, speech therapy, occupational therapy, physical therapy.

  • When should I start treatment for a child with Down syndrome?

    Research indicates that early intervention improves outcome for children with Down syndrome. This assistance can begin shortly after birth and often continues until a child reaches age 3.

  • What are the features of Down’s syndrome in newborn babies?
  • What is the initial evaluation a child with Down syndrome has to go through?

    •  Growth monitoring

    •  Congenital heart diseases by echocardiogram.

    •  Thyroid function.

    •  Hearing impairment using auditory evoked potential testing (before age 6 months).

    •  Eye and vision issues, as well as congenital cataracts and glaucoma.

    •  Regular neck x-rays for atlanto-axial subluxation.

    •  Feeding and swallowing issues.

  • What kind of therapy does a child with Down syndrome need?

    Treatment of Down syndrome requires a multi-disciplinary approach including a team of cardiologists, endocrinologist, orthopaedics, dentists, ENT specialists, etc. depending on the child’s need.

    A variety of therapies can be used in early intervention programs and throughout a person's life to promote the greatest possible development, independence, and productivity. Some of these therapies are listed below.

     Physiotherapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.

    •  Physio-therapy is important, especially early in a child's life, because physical abilities lay the foundation for other skills. The ability to turn over, crawl, and reach helps infants learn about the world around them and how to interact with it.

      •  A physical therapist also can help a child with Down syndrome compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems. For example, a physical therapist might help a child establish an efficient walking pattern.

    •  Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively.

      •  Children with Down syndrome often learn to speak later than their peers. A speech-language therapist can help them develop the early skills necessary for communication, such as imitating sounds. The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech.

      •  In many cases, children with Down syndrome understand language and want to communicate before they can speak. A speech-language therapist can help a child use alternate means of communication, such as sign language and pictures until he or she learns to speak.

      •  Learning to communicate is an ongoing process, so a person with Down syndrome also may benefit from speech and language therapy in school as well as later in life. The therapist may help with conversation skills, pronunciation skills, understanding what is read (called comprehension), and learning and remembering words.

    •  Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities.

      •  This type of therapy teaches self-care skills such as eating, getting dressed, writing and using a computer.

      •  An occupational therapist might offer special tools that can help improve everyday functioning, such as a pencil that is easier to grip.

      •  At the high school level, an occupational therapist could help teenagers identify jobs, careers, or skills that match their interests and strengths.

    •  Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors. Children with Down syndrome may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.

      •  A psychologist, counselor, or other mental health professional can help a child deal with emotions and build coping and interpersonal skills.

      •  The changes in hormone levels that adolescents experience during puberty can cause them to become more aggressive. Behavioral therapists can help teenagers recognize their intense emotions and teach them healthy ways to reach a feeling of calmness.

      •  Parents may also benefit from guidance on how to help a child with Down syndrome manage day-to-day challenges and reach his or her full potential.

  • What is the incidence of Down’s syndrome in children?

    It is one of the most common genetic disorders, affecting 1 in 650-1,000 children.

    •  The underlying genetic defect is trisomy 21 in 94% of cases.

    •  Mosaicism (2.4%) and translocations (3.3%) also occur.

    •  75% of these translocations are de novo errors.