Down syndrome, otherwise known as Trisomy 21, is a genetic condition that results in an intellectual disability that is associated with an extra copy (full or partial) of chromosome 21. When a baby has Down syndrome, an error happened when either the egg or the sperm was formed. This error caused an extra chromosome (called chromosome number 21) in the egg or sperm, so that the baby received a total of 24 instead of 23 chromosomes from one of its parent (CDC, 2011). This extra chromosome is what causes the physical signs and other difficulties that can occur in children with Down syndrome.
Babies and children with Down syndrome can experience physical and intellectual difficulties which can range on a continuum from mild to severe:
- A birth defect of the heart
- Hypotonia (low tone) and loose ligaments
- Stomach problems, such as a blocked small intestine
- Celiac disease, a digestive disease that damages the small intestine so that nutrients from food are not absorbed well
- Gastroesophogeal reflux
- Problems with memory, concentration, and judgment
- Hearing problems
- Eye problems, such as cataracts or trouble seeing objects that are close by (far-sighted)
- Thyroid problems
- Skeletal problems
Most children with Down syndrome have a mild to moderate intellectual disability, delayed language development, and delay in meeting gross and fine motor developmental milestones.
The incidence of Down syndrome is about 1 in 691 live births per year (CDC, 2011). This incidence jumps to 1 in 400 among mothers over the age of 35 and 1 in 30 in mothers after the age of 45 (CDC, 2011).
Feeding and nutrition in babies and children with Down syndrome:
Infants and young children with Down syndrome frequently experience feeding issues throughout infancy and early childhood due to low muscle tone, macroglossia (enlarged tongue), small facial structure, small oral cavity, narrowed nasal passages, and respiratory and gastrointestinal problems. Low muscle tone affects the strength and range of motion of the facial muscles leading to problems with sucking, swallowing, lip closure, tongue protrusion, chewing, and failure to advance food textures. These children are also at risk for swallowing disorders, especially silent aspiration. Symptoms of aspiration include lack of cough to clear the airway and frequent pneumonia and/or respiratory infections. Often, infants with Down syndrome have difficulty with weight gain, but are at risk for becoming overweight in early childhood due to having a lower resting metabolic rate. They also have a shorter stature, so that after the first year, they tend to gain more weight than height.
Congenital heart defects are common in infants with Down syndrome which can cause fatigue during feeding, inadequate food intake, and limited weight gain. Gastroesophogeal reflux disorder (GERD) is also very common in infants with Down syndrome which can complicate already existing feeding problems. The small facial structure and narrowed nasal passages, along with increased respiratory secretions can interfere with nasal breathing and bottling and may lead to an uncoordinated suck/swallow/breathe pattern.
- Positioning can be helpful in reducing symptoms of GERD, and infants should be held in a semi-upright position (head higher than bottom).
- Providing chin and cheek support, along with frequent burping may also be helpful.
- Create a familiar routine around feeding, eliminate environmental distractions, and limit feeds to 30-45 minutes.
- Different bottle types can also help reduce the symptoms of GERD including Dr. Brown, Playtex Vent-Air, and AVENT. Due to smaller mouth and jaw and flat tongue, different bottle nipple shapes may also help the infant with low tone and excessive tongue protrusion.
- It is important to consult with your medical team, including OT and SLP if you think your child has symptoms of GERD and to determine which bottle/nipple system is best for your baby.
Problems often arise when transitioning the infant with Down syndrome from bottle to cup and from liquids to solids. Delays in self-feeding skills can also be present. Macroglossia and abnormal dentition can cause problems with chewing and speech development. Lack of mature tongue patterns can delay chewing and lead to failure to advance food textures in young children with Down syndrome. Other common issues include tongue protrusion and lack of lip closure leading to food loss. Children with Down syndrome are at greater risk for periodontal disease and teeth generally erupt later or in a different pattern than typically developing children.
- Starting mouth hygiene young is important to maintain healthy gums.
- When beginning solid feeds from a spoon, appropriate supportive positioning is essential. Children with lower tone need to have adequate support at the trunk, hips, and feet. Adaptive seating may be needed when your child is young.
- Using a small spoon (the Sassy Less Mess curved spoon is a good choice), provide slight downward pressure using the bowl of the spoon on the mid tongue, allowing time for the child to bring top lip down to initiate lip closure and clean off the spoon.
- Encourage your child to explore and play with new tastes and textures and get messy!
- Gagging when presented with solids can indicate a delay in mature oral motor and chewing patterns or represent trying to advance food textures too quickly. Slowly thicken the texture of purees by adding rice cereal, oatmeal cereal, or potato flakes.
- Avoid lumpy/chunky purees and introduce solids that are dissolvable such as Gerber star puffs, graham cracker sticks, or vegie sticks/straws.
- Avoid Cheerios, dry rice, and Stage 3 baby foods (or mixed textures) until chewing skills improve.
- A comprehensive evaluation may be needed by a feeding team, occupational therapist, or speech therapist if your child is failing to advance textures, gags frequently, develops severe behavioral issues around eating, or shows signs of aspiration.
- Center for Disease Control (2011). Facts about Down syndrome. Retrieved from http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html
- Comrie, J.D. (n.d.). Feeding difficulties in children with Down syndrome: Frequently asked questions. Retrieved from http://www.feeding.com/public_ftp/faqs/Down-Syndrome-Feeding-Difficulties-FAQ_CPD.pdf
- Lewis, E., & Kritzinger, A. (2004). Parental experiences of feeding problems in their infants with Down syndrome. Down Syndrome Research and Practice, 9(2), 45-52.
- Roizen, N.J. (2013). Down syndrome (Trisomy 21). In M.L. Batshaw, N.J. Roizen, & G.R. Lotrecchiano (Eds.). Children With Disabilities (7th ed), Baltimore, MD: Paul H. Brookes Publishing Co.
- VanDahm, K. (2012). Pediatric feeding disorders: Evaluation and treatment. Framingham, MA: Therapro, Inc.