What is Down Syndrome

Down syndrome is a common genetic disorder that is present from birth. It results in developmental delays that are caused by the presence of extra genetic material. It has an impact on both mental and physical development.

Each human cell contains 23 pairs of chromosomes; half of each pair comes from our mother and the other half comes from our father. Those with Down syndrome have an extra 21st chromosome. For this reason, Down syndrome is also referred to as Trisomy 21.

Down Syndrome Treatment in Gurgaon Target Walk

While the disorder can be detected before a child is born, it cannot be prevented. According to the World Health Organization, the genetic disorder occurs in approximately one in every 1,000 to one in every 1,100 live births worldwide. The distinguishing physical characteristics of Down syndrome include a flat face and short neck, as well as eyes that are slightly slanted. Mild to moderate learning disabilities and low muscle tone in infancy are also typically present.

Other health conditions can be associated with Down syndrome, including heart defects, leukemia, early onset of Alzheimer’s disease, and gastrointestinal problems. Some of the medical problems linked to Down syndrome, like hearing problems or thyroid problems can be treated or corrected.

The positive news is that life expectancy for those with Down syndrome has increased greatly over the last few decades due to improved medical care.

The individual’s physical and intellectual needs, strengths and limitations determine the type of treatment provided. In most cases, care is provided by several health care professionals, including physicians, special educators, speech and occupational therapists, and physical therapists. A dietician may be consulted if a Down syndrome patient has digestive problems.

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.

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?

The physical features and medical problems associated with Down syndrome can vary widely from child to child. Neonatal features of Down’s syndrome:

1 General :

  • Hyperflexibility
  • Muscular hypotonia
  • Transient myelodysplasia of the newborn
2 Head :
  • Brachycephaly
  • Oblique palpebral fissures
  • Epicanthic folds
  • Ring of iris speckles – Brushfield’s spots
  • Ears set low, folded or stenotic meatus
  • Flat nasal bridge
3 Mouth :
  • Protruding tongue (small narrow palate)
  • High arched palate
4 Neck :
  • Loose skin on nape of neck
5 Hands :
  • Single palmar crease
  • Short little finger
  • In-curved little finger
  • Short broad hands
6 Feet :
  • Gap between great and first toe
  • Congenital heart defects
  • Duodenal atresia – a congenital GI obstruction
  • Intestinal motility disorders

 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.

•  Physiotherapy 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.

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