Down Syndrome: Causes, Symptoms, and Treatment

Down Syndrome: Causes, Symptoms, and Treatment


Myrah’s case of Down Syndrome!

At birth itself, Myrah exhibited soft signs of Down Syndrome, such as slanted eyes, poor sucking reflex, and hypotonia. While she was 2 days old, she was transferred to a major urban hospital for genetic testing, where Down Syndrome was finally confirmed.

Myrah’s delayed motor skill development, impaired cognition, and sensory integration impairments led her doctors to decide upon some physical therapy sessions that could help her across the life span to address changing issues as growth occurred. This also aided the child in gaining increased independence in various environments. Furthermore, these sessions enabled Myrah all the way through her infancy to her teen years. This was necessary as functional demands change as the individual moves from infancy through the school years and into adulthood.



 The above is a classic case of Down Syndrome wherein the child was genetically born with the disorder. Nevertheless, with timely intervention and treatment, you can manage and make the child’s condition and future better.

What is Down Syndrome?

Down syndrome, or Trisomy 21, is a genetic disorder characterized by an extra copy of chromosome 21.

Understanding Down Syndrome

Chromosomes serve as the blueprint for the development of the body. They exist in every cell of your body and influence your physical and mental characteristics. Human beings typically have 46 chromosomes (put together in 23 matched pairs). Down syndrome patients have an extra chromosome 21 in their genetic make-up.

People with this disorder have some intellectual disability, some distinguishing physical characteristics, a higher risk of certain health conditions (many of which are treatable), and some developmental delays. Every Down Syndrome patient is unique, with some of the many possible health, learning, and other differences that this condition can cause.

Did you know?
Down syndrome is a highly common chromosomal disorder, affecting people of all races and cultures at roughly the same rate.

Causes of Down Syndrome

  • Chromosomes are tiny “packages” that contain the genes in your cells. Genes carry information, known as DNA, that governs how you look and the ways and means your body functions. In some cases, they may have an extra copy of chromosome 21 in some cases that can lead to Down Syndrome.
  • Trisomy refers to having an extra copy of a chromosome. Thus, the condition is sometimes also referred to as trisomy 21.
  • Down syndrome is not usually inherited. It happens by chance as an error when cells divide during the early stages of fetal development. It is unknown why Down syndrome occurs or how many different factors contribute to it.
  • The mother’s age is one factor that can, at times, trigger the chances of having a baby with Down syndrome. In fact, women beyond the age of 35 face a higher probability of giving birth to a child with Down syndrome.

Down Syndrome Symptoms

Physical Disabilities

Children or people with Down syndrome have a number of distinguishing facial and physical characteristics. These are most noticeable at birth and can become more noticeable over time.

Physical characteristics of children with Down syndrome include:

  • Eyes that slant upward from the inner to the outer corner
  • Small ears that may fold slightly over at the top
  • A smaller-than-average mouth and a larger-than-average tongue
  • Short, stocky arms and legs, a smaller-than-average nose with a flattened nasal bridge
  • A large gap between the big and second toes
  • Small hands with short fingers and short necks Short neck

Intellectual Disabilities

Most children with Down syndrome reach developmental milestones later than other children, such as walking and talking. They frequently have mild to moderate intellectual disabilities and may struggle with attention span, verbal memory, and expressive communication.

Children with Down syndrome may be more prone to behavioral issues such as stubbornness, impulsivity, and temper tantrums. Many children use talking to themselves to understand and process information.

Children with Down syndrome are less able to hold and process information stored in verbal short-term memory. It is a system of immediate memory for newly learned information. It does, however, support all learning and cognitive activity through visual or verbal information processing, and those with Down syndrome tend to perform better with visual information.

This can put them at a discrete disadvantage in classrooms where the majority of new information is imparted through spoken language. On the flip side, children with Down Syndrome possess the potential to learn throughout their lives, which can be maximized through early intervention.

Down Syndrome Treatment

Medical Treatment

Almost half of all Down syndrome children are born with congenital heart defects. In such cases, paediatric cardiologists can be consulted who can treat babies with congenital heart conditions.

The severity of the child’s heart condition determines treatment. Some mild heart defects do not necessitate treatment. Medication, interventional procedures, or surgery can be used to treat others.

Physical Therapies

A wide range of therapies are available to address a child’s specific physical, behavioral, and communication needs, and they can have a significant positive impact on children’s learning and development.

Nonetheless, for any mental or nerve disorders wherein the child is struggling with delays in reaching behavioural milestones, you must reach out for an experienced paediatric neurologist. He may suggest various therapies specifically targeted to your child’s problems and challenges.

Among the therapies are:

Occupational therapy is used to enable children improve their motor skills, such as using their hands and other parts of their bodies. Along with this, it also helps them to deal with sensory input from their surroundings.

Physical therapy enhances mobility and muscle strength and assists children in working within functional constraints.

Speech therapy can support your child to improve their communication and self-expression skills.

Behavioral therapy is aimed at resolving emotional and behavioral issues

Educational Therapy

The majority of educational therapies used to address the core symptoms of Down syndrome are delivered through state and local school systems.

It is quite essential for parents and teachers to recognize that no single educational approach is appropriate for every child. Most children with Down syndrome can spend time in a general education classroom with normally developing peers, but some may benefit from a smaller setting with more individual support.

Consult Dr Arif Khan – Treat your child’s Down Syndrome issues with an apt line of treatment

Down Syndrome can be a life-changing diagnosis for any family, but it doesn’t have to be. With the hand-holding of a highly knowledgeable and experienced paediatric neurologist like Dr Arif Khan, you and your child can find an appropriate treatment option that will work for them. He is a renowned name in this field, and his know-how in the domain is exceptional.

Moreover, Dr Arif is well-versed in various treatments specifically designed for children with Down Syndrome, so he will be able to guide you through appropriate care and advice on how to manage your child’s condition. With his guidance, you can ensure that your child leads his/her life as normally as possible.

Schedule an appointment for an elaborate discussion.