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Exploring Treatment and Therapy Options for Down Syndrome

Mar 01st, 2024 | by Pauline Chuang

Pauline Chuang

March 01st, 2024

What is Down Syndrome?

Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. With the appropriate support and opportunities for development, children with Down syndrome can live fulfilling lives and make significant contributions to their families and communities. In this blog, we share information on Down syndrome in children, including causes, characteristics, treatment and therapy options.

What is the Cause of Down Syndrome?

As explained by the National Down Syndrome Society (NDSS), trisomy 21 (the most common type of Down syndrome) “is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.”

How Common is Down Syndrome?

Approximately 6,000 children are born with Down syndrome each year. The estimated incidence of Down syndrome is an average of 1 in every 1,000 births worldwide. The probability of having a child with Down syndrome can often be predicted prior to giving birth, with a series of screenings and tests conducted by a medical professional. 

Understanding the Likelihood of Down Syndrome Before Birth

The probability of having a child with Down syndrome can often be predicted prior to giving birth, with a series of screenings and tests conducted by a medical professional. While the actual cause of the creation of the extra chromosome is still unknown, research supports the fact that a mother has a higher chance of having a child with Down syndrome if the delivery occurs after the age of 35. Nevertheless, since women under 35 have more children on average than women over 35, the majority of babies with Down syndrome are born to younger mothers.

Physical Characteristics Often Observed in Children with Down Syndrome

The characteristics and features of Down syndrome are caused by the extra copy of chromosome 21 being in every cell in the body. Children with Down syndrome may exhibit a range of characteristics, including:

  • Low muscle tone (hypotonia)
  • Small hands and feet
  • Short stature
  • Flat nasal bridge
  • Protruding tongue
  • Congenital heart disease
  • Vision problems

Understanding the Unique Challenges Individuals With Down Syndrome May Face

Individuals with Down syndrome may experience a variety of developmental challenges ranging from mild to severe, including:

  • Global developmental delay
  • Gross motor delay, such as sitting, crawling, and walking, at a slower pace
  • Reduced fine motor skills, impacting independence with self-help skills
  • Delayed speech
  • Delayed play skills
  • Stubbornness
  • Difficulty paying attention
  • Feeding difficulties which may include picky eating and/or swallowing difficulties
  • Difficulty with higher level decision making and organisational skills

What Are the Treatments for Down Syndrome?

There is no medical cure for Down syndrome, however, children with Down syndrome benefit from early access to medical care and developmental interventions beginning in infancy.

Physiotherapy, Occupational and Speech Therapy for Down Syndrome

Options of therapy for Down syndrome include physiotherapy, occupational therapy and speech therapy. Early intervention is crucial as it can result in significant improvements in gross motor, fine motor, communication and oral-motor skills.

  • Down syndrome physiotherapy may focus on improving mobility, muscular strength, coordination, and endurance to achieve gross motor milestones such as sitting, crawling and walking.
  • Occupational therapy for children with Down syndrome may target improving upper limb strength, upper extremity function, and posture to support independence in daily activities, such as dressing, writing, eating, and playing.
  • Speech therapists can assist children with Down syndrome with increasing the coordination in their mouth to form words, teach them alternative communication techniques such as sign language to assist and augment with the facilitation of spoken language or use a combination of both approaches. Down syndrome speech therapy may support with increasing speech intelligibility and developing expressive and receptive language.

Don’t Believe the Stereotypes, Believe in Your Child

If your child has been recently diagnosed with Down syndrome, it is important to find support and access resources.

  • Seek out other families of children with Down syndrome
  • Find support groups through social media, like the NAPA Australia Parent Group on Facebook
  • Utilise support groups in your area 
  • Arm yourself with the best team of medical and therapy professionals you can
  • Contact your state’s early intervention resource centre such as https://westsiderc.org/.

As members of society, individuals with Down syndrome benefit from loving homes, education, positive public attitudes, and a supportive community environment. 

Find Additional Resources and Inspiration in the NAPA Blog:

 

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre

In this blog, we discuss causes, characteristics, therapy and treatment options for Down syndrome.At NAPA Centre, we take an individualised approach to therapy because we understand that each child is unique with very specific needs. We embrace differences with an understanding that individualised programs work better. For this reason, no two therapeutic programs are alike. If your child needs our services, we will work closely with you to select the best therapies for them, creating a customised program specific to your child’s needs and your family’s goals. Let your child’s journey begin today by contacting us to learn more.

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