Down Syndrome: Symptoms, Causes, and Treatments

These feelings are very common and natural at this initial stage. It is a time when parents are beginning to process their emotions and seek information about what it means to have a baby with Down syndrome.

We often carry with us a series of misconceptions and a lack of information about what a child with Down syndrome is like, their abilities, and their potential. It is important to remember that this is a condition your child has—it does not define who they are.

Learning about the syndrome is extremely valuable, as it helps you discover ways to stimulate your child and support them in reaching their full potential.

The information below serves as an initial source of guidance on what it means to have a baby with Down syndrome, along with our recommendations for caring for your baby, who will need all your support and love to live a happy life.

Our multidisciplinary team is available to talk with you and answer any questions you may have.

What is it?

Down syndrome is a genetic condition characterized by the presence of an extra copy of chromosome 21 in the cells of the body.

How Does It Happen?

To understand how Down syndrome (DS) occurs, we need to understand a bit about the structure and function of human chromosomes. The human body is made up of cells, and all cells contain chromosomes located in their nucleus. Chromosomes are structures that carry all of our genetic information, such as our potential height, eye and hair color, predisposition to certain diseases, and more. Our reproductive cells—egg and sperm—each contain 23 chromosomes. When fertilization occurs, the resulting fertilized egg contains 46 chromosomes (23 from the egg and 23 from the sperm), which will give rise to a new baby. This baby will then have 46 chromosomes in all of their cells, half inherited from the mother and half from the father. In DS, an error in cell division results in an extra copy of chromosome 21 in the cells (trisomy 21). In most cases (about 95%), this error occurs during the formation of the egg or sperm, meaning the egg or sperm contains an extra chromosome 21. As a result, the fertilized egg will develop into an individual with 47 chromosomes in their cells. This alteration is called simple trisomy (there are 3 chromosomes in pair 21 instead of 2). Other, rarer genetic variations can also cause DS, such as, Translocation (when chromosome 21 is attached to another chromosome) and Mosaicism (when only some of the baby’s cells have trisomy, because the error in cell division occurred after the embryo began to form).

What Is a Baby with Down Syndrome Like?

A baby with Down syndrome is just like any other baby. They will need all the attention from their parents—just like any other baby! They will take up almost 100% of your time—just like any other baby! They will nurse, sleep, cry, and make you change countless diapers too!

And although they may have some physical characteristics common to babies with Down syndrome, they will also resemble you, their siblings, and other family members!

Do Babies with Down Syndrome Always Have Health Problems?

The extra chromosome 21 in the baby’s cells is responsible for the characteristics commonly observed in individuals with Down syndrome. Cognitive delay and hypotonia (low muscle tone) are present in all individuals with DS, although their intensity may vary. Decreased muscle tone, a slightly flatter facial profile, upward-slanting eyes, small hands, and finer hair are common features in these children. This additional genetic material is also associated with a higher incidence of certain health conditions, such as congenital heart and gastrointestinal malformations, thyroid disorders, vision and hearing problems, among others. However, this does not mean that every child with DS will have these conditions. These are simply possibilities that should be evaluated by a pediatrician to ensure early diagnosis and appropriate treatment if needed.

What Can Children with Down Syndrome Do?

Children with Down syndrome can usually do most of the things that any other child can do: walk, talk, play, get dressed, use the bathroom, go to school, and more. However, they typically achieve these developmental milestones a bit later than other children. The exact age at which these milestones will be reached cannot be predicted. That said, early intervention programs, started within the first months of life, can greatly support these children in reaching their individual potential.

How Should I Care for My Baby?

Your baby needs the same care as any baby without Down syndrome. The pediatrician will provide you with the initial guidance and let you know if there’s a need for evaluation by any medical specialists. Breastfeeding is just as important as it is for any other child. In most cases, some tests are performed while still in the maternity ward to check for common conditions. The most frequently requested tests include echocardiogram, vision and hearing screenings and thyroid function tests. It’s also important for your baby to begin an early intervention program to support their development. The professionals typically involved in this program include a physical therapist, a speech-language pathologist, and an occupational therapist. But don’t rush—what your baby needs most right now is the warmth of your arms and the loving presence of their parents and family!

What Feeding Care Should I Have?

An important characteristic of babies with Down syndrome is muscle hypotonia. This means that these babies have weaker and more relaxed muscles, and therefore need appropriate stimulation from birth.

Breastfeeding is essential for these babies—not only for its nutritional benefits, but also because of the muscular effort required by the newborn. This effort helps improve muscle tone in the lips, mouth, and tongue, which is important for the development of the dental arches and speech. Additionally, the antibodies in breast milk help protect against respiratory infections, which are more common in children with Down syndrome.

Nutritional monitoring can improve the quality of life for children with Down syndrome and help prevent health complications related to conditions associated with the syndrome.

How Can I Stimulate My Baby?

Down syndrome is characterized by a delay in the development of motor functions. Babies with DS tend to have hypotonia (low muscle tone) and are less active; however, this improves over time, and the child gradually reaches various developmental milestones—although typically later than other children.

In the first months of life (0 to 6 months), physical therapy focuses on early intervention due to the importance of starting stimulation during this period. This includes guiding parents on how to handle the baby at home—changing positions, proper holding and sleeping posture, and how to direct sensory and motor stimuli to support the baby’s skill development.

Children engaged in early and consistent intervention programs show better neuromotor development.
(GIBSON & HARRIS, 1988)

Specific exercises, when practiced regularly, help in the child’s development but should always be done under the guidance and supervision of a physical therapist.

By providing stimulation, we indirectly activate neurons in the cerebral cortex and other parts of the nervous system, which leads to the growth of neural connections. As a result, motor commands to the stimulated areas become more numerous and synapses more stable—clinically expressed through the progressive acquisition of normal or near-normal movements and postures. (SHCOLNIK, 1998)

During the first two years of life, children typically achieve major gross motor milestones: head control, rolling, crawling, sitting, standing, walking, and running.

However, in children with Down syndrome, this developmental sequence occurs at a slightly slower pace.

How to Hold Your Baby

It’s important to alternate the side on which you hold your baby—sometimes on the right, sometimes on the left—so they receive sensory input from both sides. The head should be well supported while the baby is still unable to hold it up, keeping it aligned with the body. The arms should be free, and the legs kept together.
(Adapted from “Guide for Babies with Down Syndrome,” Associação Mais 1, 2009)

Hold your baby facing you, with one hand supporting their bottom and the other on their back, so they feel safe and comforted.

Then, shift your hand to support the head and gently lift the baby’s body so they can feel the change in position and look at you.

As your baby gains head control, you can carry them in a seated position using your arms as a seat, with the baby supported at the hip and chest, facing forward with legs together. This allows them to observe their surroundings.

It’s important to consult a physical therapist for more detailed guidance on how to support your baby’s motor development.

How Can Occupational Therapy Help in a Baby’s Development?

Occupational therapy begins in the first months of life and continues throughout the child’s development, aiming to integrate cognitive and sensory activities (vision, hearing, touch, and smell) with motor functions.

The focus of early stimulation is through play. In other words, a child’s ability to play is known to be of great importance during childhood. Through play, the child explores different ways of understanding the world, which enhances their development.

As the child grows, occupational therapy promotes independence in self-care activities (such as eating, bathing, and dressing independently) and supports school-related tasks. At this stage, special attention is given to fine motor skills, such as holding a pencil, buttoning clothes, opening jars, playing with modeling clay, using scissors, and more.

The occupational therapist works in partnership with parents, caregivers, and other professionals to help handle, care for, and stimulate the child in a way that maximizes their potential.

Why Does My Child Need Speech Therapy?

Early speech-language intervention is recommended to guide proper breastfeeding techniques and, if necessary, bottle-feeding.

Stimulating the orofacial muscles during sucking, swallowing, and chewing helps ensure proper positioning, movement, and function of the lips, tongue, and cheeks. There is a strong connection between the stimulation of these functions and the development of speech, as the muscles used for sucking and swallowing are the same ones used for speaking.

From birth, regular check-ups are important to ensure proper sucking function, stimulate orofacial muscles, guide the gradual introduction of different food textures, and begin specific support for speech and language development.

In some cases, babies with Down syndrome may respond less to sounds and, as a result, may vocalize less. They often understand more than they can express. In speech development, they may show sound substitutions (“mispronunciations”), which are often due to auditory discrimination difficulties and weak facial muscles. These children may need more stimulation to develop language and may also benefit from educational support.

Understanding your child’s development through speech therapy follow-up allows for early and targeted stimulation, helping to unlock each child’s potential and support their developmental journey.

In addition, the speech therapist monitors hearing development to enable early diagnosis of any hearing impairments.

Initially, your child will undergo a test known as the newborn hearing screening (otoacoustic emissions). In some cases, this test may need to be complemented with a brainstem auditory evoked potential (BAEP) test.

Recommended Websites:

International

www.downcantabria.com

http://www.dsrtf.org

www.dhg.org.uk/information/dentalcare.aspx

http://garnerlab.stanford.edu/DS_Clinical_Perspective.html

National (Brazil)

www.reviverdown.org.br