Down Syndrome - Introduction and an Overview
by Sejal Parik-Shah, ND
Down syndrome received its name in 1866, when John Langdon Down initially described this disorder. Down syndrome is more recently known as trisomy 21 (T21), which better describes the extra 21st chromosome that is distinctive for 95% of individuals with this genetic disorder. T21 is more common than most people are aware; it is estimated that 1 in 800 births worldwide are to infants with T21. This number may be significantly higher if genetic testing was not used to identify fetuses with T21 who are, more often than not, terminated.
People with T21 are generally characterized as having a combination of impairment in cognition and physical growth, along with poorer health and distinctive physical characteristics. Most individuals have two pairs of 23 chromosomes; individuals with T21 can have up to three copies of chromosome 21. Individuals with T21 can present with one of three types of chromosomal patterns. Ninety-five percent of individuals with T21 have true trisomy 21; this means that they have three copies of chromosome 21.
Many of the common physical features of T21 may also appear in the general population. Individuals with T21 have some common facial features: almond-shaped eyes, due to the presence of epicantal folds (a folding of the skin of the upper eyelid extending from the nose to the inner side of the eyebrow), and up-slanting palpebral fissures (the separation between the upper and lower eyelids). A small, somewhat flat nose with a protruding tongue (macroglossia) and small ears may also be present. A small chin (microgenia) in an unusually round face may be present. They may also have a smaller head that is somewhat flattened in the back (brachycephaly), and straight hair that is fine and thin.
Other physical features include a single crease across the palms of their hands (simian crease), short stubby fingers, and a fifth finger or pinky that curves inward (clinodactyly). In general, they have shorter stature with short limbs. They may have poor muscle tone and a larger-than-normal space between the big and second toes.
None of these facial or physical features are abnormal by themselves, nor would they cause a baby with T21 any problems. If a doctor sees a number of these features together in one baby, they may suspect the baby to have T21.
Common Health Concerns
Children with T21 may face health complications beyond the normal childhood illnesses. There are a few congenital (present at birth) malformations that are common to babies with T21. More than 40% of children born with T21 have a congenital heart malformation. Because of this high incidence, most babies with T21 should be screened with an echocardiogram at birth. The presence of a heart problem does not mean that the baby will be seriously ill. The extent of the heart problems will vary greatly. The management of heart defects will vary from watchful waiting to medication to surgery.
Around 10% of infants with T21 will have gastrointestinal (stomach/digestion) issues. These can range from narrowing or blockage of the intestine (duodenal atresia) to an absent anal opening (anal atresia), an obstruction of the outlet of the stomach (pyloric stenosis), or an absence of the nerves in the colon called Hirschsprung’s disease. Most of these malformations need to be fixed with surgery.
Hypothyroidism is more common in children with T21. Children with T21 should have regular blood tests to check thyroid function. The thyroid is a small gland located in the neck. Hypothyroidism is when the body makes too little thyroid hormone. Thyroid hormone is necessary to a variety of bodily functions. Metabolism, bowel movements, temperature, and cognition are affected by low levels of thyroid hormone. Optimal thyroid function is also important for growth and muscle function. Testing thyroid hormone levels should be done a few times in the first couple of years of life, and then annually. Treatment of hypothyroidism is usually in the form of replacement thyroid hormone.
Preventive medical care is important for all individuals; it is especially important for individuals with T21. Working together with a conventional medical doctor and a naturopathic doctor, we can enhance the potential of individuals with T21.
The use of nutritional supplementation, especially New Downs, in the daily life of a child with T21 can help with the long-term health of an individual.
Fine motor skills may also be slower. Fine motor muscles help kids pick up and manipulate toys and objects. Self-feeding, drinking from a cup, and self-dressing are examples of fine motor skills. Writing skills develop as a refinement of the above mentioned skills. These skills are necessary for both learning and self-help. Minerals, such as calcium and magnesium, as well as omega-3 fatty acids can be beneficial for increasing fine motor skills.
Kids with T21 usually have age-appropriate social skills. Unless there is a dual diagnosis (with autism), children with T21 will interact well with other kids of same age. Encourage social interaction with other children. Because of the T21 diagnosis, some parents may limit social interactions. Do not underestimate their ability to behave in an ageappropriate way because of their size or language delays. Kids of all ages require and thrive with interactions with their peers.
It is very beneficial for all kids to interact with a variety of children of different ages and a wide range of adults. This encourages communication skills and social behaviour. A parent-and-tot play group or preschool situation will help develop independence and social interactions. This will also encourage play skills and cognition. Do not feel that the language delay will prevent the child from interacting with others.
Being in a preschool or play group will also encourage turn-taking, sharing, learning how to follow instructions from teachers, and have appropriate behaviour.
Self-help skills and independence will develop in all children. During preschool years, children become independent. They are able to self-feed, self-dress, and use the bathroom. These skills develop in children with T21. Most children with T21 will be able to achieve self-help skills by the time they are 4–6 years of age. The speed with which children become independent in these areas is influenced by the expectations of their parents.
Cognition includes learning and mental processing; thinking, reasoning, remembering, and learning skills. In a typical development, speech and language skills play a central role. Imaginative play is an important part of cognition. This is where the child thinks out loud. Language skills are practiced and social interactions are modeled.
Cognitive development also refers to acquiring knowledge about the world and understanding the social and physical world. Knowledge is obtained via the senses. Babies watch all activities around them. Exploration with toy and objects within their reach encourages cognition. The way in which a baby or young child plays with toys is usually a good indication of their level of understanding. For instance, is s/he using the toy appropriately? Is s/he stacking blocks? Is s/he opening up a book and pretending to read it?
Imaginative play starts in the second year. This is when they begin to show how they understand their world. They act out behaviours and actions of those around them. They may pretend to make meals, put a doll to bed, drive a car, and go grocery-shopping. This type of play is very important. This type of play can be used to teach many things. Vocabulary can be introduced, demonstrated, repeated, and learned through imaginative play. An example would be matching and selecting pictures. Children can learn the names of animals and common household items. Colours and numbers can also be introduced and taught. Structured teaching can also help children to follow instructions.
Nutrients such as B complex, amino acids, magnesium, and omega-3 fatty acids are vital to the development of cognition. New Downs contains these nutrients in therapeutic doses.
Most children with T21 do not have any attention difficulties. Engagement of children in activities which require them to pay attention is important. Using play activities and reading picture book help to engage children’s attention. It is important to encourage babies to engage in early “face-to-face” babble games, and to continue from this to playing with toys and looking at books. Attention and motivation are usually linked. A child will pay attention and concentrate for longer periods when the activity is one that they enjoy.
Memory Memory can be divided into two types: long-term and short-term. Long-term memory refers to all the information and learned skills that can be accessed. Short-term memory refers to the recall of information that has been retained for a short period of time; remembering a telephone number while dialing it. Children with T21 have adequate long-term memory; information and skills once learned are retained once learned. Short-term memory (working memory) does not develop at the expected rate; there is a difficulty with short-term memory, especially when it is verbal information. This makes learning to talk and process speech in everyday situations particularly difficult for most children with T21. However, their ability to process visual and spatial information in short-term memory is better. As a result, the use of pictures and visual information to supplement spoken information is very important.
Speech typically starts developing at 12 months of age. All babies with T21 benefit from a speech-and-language therapist from birth. Even though words begin in the second year of life, the foundation of nonverbal communication skills and babble starts much earlier. Babies begin to understand the words used around them and will start to point to objects around them around 9 months of age. Babies with T21 may have hearing difficulties, and the use of signing can be helpful. Parents can utilize sign language starting at 9 months of age.
Babble is a very important step towards speech. It starts developing in the first year of life. In the second year, babies begin using single words, and then join words together. Babies with T21 can often sign words before they can say them. Working with a speechand-language therapist can help encourage articulation and production of words and sentences. This also needs to be practiced at home with all members of the household.
Nutrients such as B complex, minerals such as calcium and magnesium, and omega-3 fatty acids are vital for the development of speech.
The learning potential in individuals with T21 can be maximized through early intervention, good education, higher expectations, encouragement, and optimal nutritional supplementation.
Almost all infants with T21 will have some degree of low muscle tone (hypotonia). Low muscle tone affects all muscle groups. Gross motor and fine motor skills are affected due to hypotonia, as is speech. Some infants with T21 have more hypotonia which may make them look weak or “floppy.” Hypotonia will affect a child’s ability to learn and grow. It may make it difficult to learn to roll over, sit up, crawl, stand, and speak. In infants, low muscle tone can also affect feeding. Some infants with T21 may have a difficult time with breast-feeding. This does not mean that all infants with T21 do not breast-feed; it means that it may take them longer to breast-feed.
Delays in motor milestones are usually due to hypotonia. As the child grows, the hypotonia decreases. Working with a physical therapist or physiotherapist will greatly help increase the muscle tone. The development of gross motor skills aids in the development of independence, and as a result will influence social, language, and cognitive development.
Minerals are important for muscle tone. As is always recommended, please speak with your naturopathic doctor before implementing any new therapies or modifying any therapies.