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Tuesday, December 24, 2013

GI Issues and Feeding in Children

Step-by-step approach to food tolerance and diet expansion

The condition of a child's GI system has a direct effect on feeding. If the GI system is not functioning efficiently it's going to impact feeding tremendously.
Many of the children with GI system present with:
  • gastroesophageal reflux disease (GERD),
  • constipation due to the limited diets related to food refusal,
  • vitamin and mineral deficit, which in consequences affect the GI tract and put things off balance,
  • eosinophilic esophagitis, an allergy-based esophageal inflammation
  • necrotizing enterocolitis in premature infants - an occurrence when intestines become inflamed or infected. The intestines need to be repaired and reconnected through surgery, causing serious GI complications.
  • negative associations with feeding, e.g. If the child is refluxing and it's causing pain, he associates pain with eating so he stops eating.
It is the same with eosinophilic esophagitis. If the child is constipated and feels bloated and full, he doesn't want to eat and does not have any hunger cycles. The chiled can learn that negative association within a month or two and starts refusing the bottle.
Many of the children treated by speech-language pathologists on the feeding team are tube-dependent. As a result, they are seen by a team consisting of speech pathology, gastroenterology and nutrition. The collaboration of these three specialists is necessary.
The speech-language pathologist requires a constant line of communication with the dietitian because these nutrition decisions are tied so closely to oral intake. Feeding is the only activity that involves all your organs and all of your muscles. Everything goes into feeding, so everything impacts it.
Families of tube-fed children often struggle with the idea that their children will never be hungry enough to eat orally if they remain on the tube. It's a double-edged sword. We can not pull back on the tube just because the child is not eating enough.
Generally, the preference of the treatment team is to put children who are tube-fed on bolus feeds rather than continuous feeds. However, if the child cannot tolerate a bolus feed, the continuous feed will continue.
A fairly normalized mealtime schedule is arranged for children who can tolerate a bolus feed. In an ideal situation the feed would be given by a pump over 20 to 30 minutes because that is a more normalized mealtime that the child would take if they were given everything PO (orally).
The 20-minute feed time presents an ideal opportunity for the speech-language pathologist to put the pump behind the child's chair, where it is out of sight, and begin PO trials. The children learn that something is going in they mouth and they stomach is feeling full, but they don't associate feeling full with the sight of the machine.
Children still can learn proper feeding positioning by sitting in a chair and can sit with their family to establish mealtime traditions and precedents, even if they are not fed orally yet. That can work even if the child is an aspirator. They can still get positive oral stimulation.
Appropriate oral stimulation toys or devices and textured plastic play food should be used to reinforce oral associations with feeding. There would be kids who will point to their tube and say 'hungry' because they know that's how they are fed. Nobody wants that association. Speech-language pathologist wants the child to point to his mouth and say “That.”
In the feeding program SLP uses several activities with an empty spoon and cup before introducing food. If a child can't tolerate an empty spoon in his mouth, most probably he won’t be able to put a spoon with pudding in his mouth.
Even when food finally is introduced, the child may tolerate puree but reject a "wet" texture food, such as green beans or mandarin oranges. Food chaining posits that children are more likely to accept a new food if it is similar in some way-color, shape or texture-to a food they already like. If a child eats Goldfish crackers, for example, clinician may use a fish-shaped cookie cutter to cut slices of cheese to reflect the color scheme. Clinician then introduces the food to the child by discussing its likeness to the previously accepted food.
Another sensory technique used by the team targets the large number of children with GERD who present with sensory processing difficulties caused by the pain they experience while eating. These children are pulling back on a lot of oral stimulation that they would normally be doing, so they're not putting things in their mouths, they're not mouthing on a toy, and they're very sensitive to the texture or temperature of foods. When it's reintroduced, they're hypersensitive.
It is not uncommon for these children to gag or vomit food. With those kids SLP has to work on tolerating the food on the tray.
The clinicians use the Sequential, Oral, Sensory (SOS) Approach to Feeding developed by psychologist Kay Toomey, PhD. Dr. Toomey's approach seeks to lessen the fearfulness of feeding for children by breaking down the process into much smaller steps. There may be 28 to 32 steps before a child takes a bite and swallows. These steps include kissing the food, licking, putting it into the mouth, and spitting it out.
The therapy is pushed as much as the child can tolerate it and until the kid is finally eating the bite.
The step-by-step approach incorporates an "all-done bowl" that allows the clinician to maintain control of the feeding therapy. For example, if a child starts throwing the food, which is very common, instead of saying: No throwing, Stop, the clinician would say, The food stays on the table. If you're done with it, you can clean it up and put it in the bowl. If the child gets distressed about the food does not just throw it off the table. The child has to follow an instruction to complete the task. It allows for a much more efficient, less battle-oriented mealtime, which is something a lot of parents deal with.
Speech-language pathologist on the team also works with the parents on using appropriate, positive language during mealtime to allow them to remain in control. The parents should avoid questions, such as: Will you take a bite? Do you like it? or Will you eat a bite for Mommy? but use positive statements, like: You can take a bite. Mommy wants to see you do it.
During feeding therapy, children must remain seated with appropriate positioning in the chair. They are not permitted to walk around the room and come back to the food when they want it. This reinforces normalized mealtime scheduling and the routine of family interaction at the table.
Infants don't have trunk support yet. When we hold them in a cradled position, they're slumped down and putting a lot of pressure on their abdomen, which causes the reflux to come up a little easier. As they learn to crawl and walk and sit upright, there's not as much pressure on the stomach and as the result half of infants outgrow reflux by 9 months of age.
Children who had reflux as infants need to be monitored for less visible but still present symptoms of GI disturbance. The reflux instead of coming out of the mouth might be coming up and down into the esophagus.
Older children with reflux often present with a chronic cough, hiccups, burping and frequent ear infections. They may only be able to tolerate small feeds but in frequent intervals.
Dental caries also can serve as an indicator for a speech-language pathologist. When a toddler has had a lot of dental work, which can be a red flag because the acid is coming up and eroding tooth enamel.
Recurrent pneumonia is another serious concern and GI problem indicator. Reflux is typically worse at night because we sleep lying down, and by doing so we lose the benefit of gravity. It comes up, spills over into the larynx, and goes into the lungs. The children are getting aspiration pneumonia, but they're aspirating reflux.

Thursday, December 12, 2013

Phonological Processes and Elimination in Typically Developing Child

A concerned parent asked me about the phonological development and processes in typically developing child. In replay I presented him with two tables created by Caroline Bowen. I frequently use the tables for my clients.

“All children make predictable pronunciation errors (not really 'errors' at all, when you stop to think about it) when they are learning to talk like adults. These 'errors' are called phonological processes, or phonological deviations. In Table 2 are the common phonological processes found in children's speech while they are learning the adult sound-system of English.” Caroline Bowen

TABLE 2: Phonological Processes in Typical Speech Development

PHONOLOGICAL PROCESS (Phonological Deviation)
Context sensitive voicing
"Pig" is pronounced as  "big"
"Car" is pronounced as "gar"
A voiceless sound is replaced by a voiced sound. In the examples given, /p/ is replaced by /b/, and /k/ is replaced by /g/. Other examples might include /t/ being replaced by /d/, or /f/ being replaced by /v/.
Word-final devoicing
"Red" is pronounced as "ret"
"Bag" is pronounced as "bak"
A final voiced consonant in a word is replaced by a voiceless consonant. Here, /d/ has been replaced by /t/ and /g/ has been replaced by /k/.
Final consonant deletion
"Home" is pronounced a "hoe"
"Calf" is pronounced as "cah"
The final consonant in the word is omitted. In these examples, /m/ is omitted (or deleted) from "home" and /f/ is omitted from "calf".
Velar fronting
"Kiss" is pronounced as "tiss"
"Give" is pronounced as "div"
"Wing" is pronounced as "win"
A velar consonant, that is a sound that is normally made with the middle of the tongue in contact with the palate towards the back of the mouth, is replaced with consonant produced at the front of the mouth. Hence /k/ is replaced by /t/, /g/ is replaced by /d/, and 'ng' is replaced by /n/.
Palatal fronting
"Ship" is pronounced as "sip"
"Measure" is pronounced as "mezza"
The fricative consonants 'sh' and 'zh' are replaced by fricatives that are made further forward on the palate, towards the front teeth. 'sh'  is replaced by /s/, and 'zh'  is replaced by /z/.
Consonant harmony
"Cupboard" is pronounced as "pubbed"
"dog" is pronounced as "gog"
The pronunciation of the whole word is influenced by the presence of a particular sound in the word. In these examples: (1) the /b/ in "cupboard" causes the /k/ to be replaced /p/, which is the voiceless cognate of /b/, and (2) the /g/ in "dog" causes /d/ to be replaced by /g/.
Weak syllable deletion
Telephone is pronounced as "teffone"
"Tidying" is pronounced as "tying"
Syllables are either stressed or unstressed. In "telephone" and "tidying" the second syllable is "weak" or unstressed. In this phonological process, weak syllables are omitted when the child says the word.
Cluster reduction
"Spider" is pronounced as "pider"
"Ant" is pronounced as "at"
Consonant clusters occur when two or three consonants occur in a sequence in a word. In cluster reduction part of the cluster is omitted. In these examples /s/ has been deleted form "spider" and /n/ from "ant".
Gliding of liquids
"Real" is pronounced as "weal"
"Leg" is pronounced as "yeg"
The liquid consonants /l/ and /r/ are replaced by /w/ or 'y'. In these examples, /r/ in "real" is replaced by /w/, and /l/ in "leg" is replaced by 'y'.
"Funny" is pronounced as "punny"
"Jump" is pronounced as "dump"
A fricative consonant (/f/ /v/ /s/ /z/, 'sh', 'zh', 'th'  or /h/), or an affricate consonant ('ch' or /j/) is replaced by a stop consonant (/p/ /b/ /t/ /d/ /k/ or /g/). In these examples, /f/ in "funny" is replaced by /p/, and  'j'  in "jump" is replaced by /d/.

TABLE 3: Elimination of Phonological Processes
Phonological processes are typically gone by these ages (in years ; months)
Context sensitive voicing
pig = big
Word-final de-voicing
pig = pick
Final consonant deletion
comb = coe
car = tar
ship = sip
Consonant harmony
mine = mime
kittycat = tittytat
Weak syllable deletion
elephant = efant
potato = tato
television =tevision
banana = nana
Cluster reduction
spoon = poon
train = chain
clean = keen
Gliding of liquids
run = one
leg = weg
leg = yeg
Stopping /f/
fish = tish
Stopping /s/
soap = dope
Stopping /v/
very = berry
Stopping /z/
zoo = doo
Stopping 'sh'
shop = dop
Stopping 'j'
jump = dump
Stopping 'ch'
chair = tare
Stopping voiceless 'th'
thing = ting
Stopping voiced 'th'
them = dem

Bowen, C. (1998). Developmental phonological disorders. A practical guide for families and teachers. Melbourne: ACER Press.
Grunwell, P. (1997). Natural phonology. In M. Ball & R. Kent (Eds.), The new phonologies: Developments in clinical linguistics. San Deigo: Singular Publishing Group, Inc.
Check Caroline Bowen’s page  

If Someone prefers more visual version can go to Tracy Brading page to see the chart 
"By the age of ___________, 90% of children have suppressed the phonological process of _________________."

Age 3
AF = Affrication (e.g. "cho" for "show") 
BA = Backing (e.g. "buk" for "bus") 
VC = Voicing Change (e.g. "dief" for "thief")

Age 4
CD = Consonant Deletion (e.g. "bu" for "boot") 
DE = Deaffrication (e.g. "sew" for "chew")

Age 5
FR = Fronting (e.g. "tey" for "key") 
SY = Syllable Deletion (e.g. "mado" for "tomato")

Age 6
AL = Alveolarization (e.g. "tum" for "thumb") 
CR = Cluster Reduction (e.g. "poon" for "spoon") 
CS = Cluster Simplification (e.g. "twa" for "tray") 
GL = Gliding (e.g. "wug" for "rug") 
SD = Stridency Deletion (e.g. "but" for "bus") 
ST = Stopping (e.g. "toup" for "soup") 
VO = Vowelization (e.g. "penco" for "pencil")

Age 8
LA = Labialization (e.g. "fad" for "sad")


Lowe, R.J.  (2000) ALPHA (Assessment Link Between Phonology and Articulation Phonology) Revised Test of Phonology.  (2000)  Mifflinville, PA: ALPHA Speech & Language Resources

Friday, November 22, 2013

Decrease Tongue Protrusion and Improve Oral-motor Strength

Tongue protrusion is very closely associated with Down Syndrome and is regularly cited as a feature of the condition. It has been traditionally stated that this is due to the presence of an enlarged tongue, however current thinking favors a combination of physical and developmental factors, specific to each individual.
Tongue movement should be considered within the context of the whole body. All parts of the body are connected and factors affecting normal motor development in one area may also influence the mouth. In order to develop movement and skills, we must have a stable trunk. Without that stability, our function is affected. Think of a young baby – their body movements are uncontrolled and random, but become more organized as they learn to control various parts of the body. Once trunk stability is established, body parts such as arms, legs, head, etc. can develop more refined movement. For example, before a child can reach and grasp a toy, they must develop control over the shoulder and trunk.
Similarly, oral stability depends on neck and shoulder stability, which is dependent on trunk and pelvis stability. A stable jaw is necessary for the development of controlled tongue and lip movements and as the range of tongue movement develops, children develop a sense of their tongue’s natural resting-place in the mouth (e.g. in the middle).
It is important to remember that not every child with Down Syndrome protrudes their tongue but also, that it is a normal part of early development. It may become exaggerated or persist due to one or many of the following factors:

  • Children with Down Syndrome have a weak suckle as infants and learn to control the flow of liquid by protruding their tongue.
  • Individuals with Down Syndrome have a smaller, higher arched hard palate which means that the tongue is contained in a smaller than average space.
  • There is lower than average tone in the muscles of the tongue. This makes it appear larger because it is floppier. Tongue movement depends on the actions of a variety of muscles in the mouth and it plays a role in swallowing, breathing, chewing and speaking. Individuals with Down Syndrome have difficulty with producing and co-coordinating the necessary movements to control the tongue.
  • During normal development, the tongue grows at a different rate to other parts of the face such as the jaw, which in the early years, normally results in the tongue a high, forward position in the mouth. This, combined with a smaller oral space and low tone in the tongue, may result in the tongue protruding.
  • The muscles of the tongue constantly correct and readjust the tongue’s position in the mouth, based on the sensory feedback it receives. Many children with Down Syndrome have difficulty receiving and integrating sensory information and may not develop these skills as quickly or completely. Consequently, they may not be aware that their tongue is protruding.
  • Tongue protrusion may also result from an inability to move the jaw separately from the tongue. This is a skill that develops over time and is dependent on jaw stability. Without this stability the tongue protrudes as the jaw lowers.
  • Tongue protrusion may develop due to airway compromise such as large adenoids or tonsils, which are common in individuals with Down Syndrome.
  • The ability to self-correct a protruding tongue requires some degree of insight and motivation to change. Depending on a child’s age and developmental level, this self-monitoring may not develop fully, or may develop much later.
  • Many children with Down Syndrome have delayed motor development and therefore may not have the stable base from which oral-motor skills can develop.
  • Upper respiratory tract infections, which block the child’s nose, may cause them to breathe through their mouth rather than their nose. In mouth-breathing the jaw lowers and the tongue is no longer contained within the mouth. These infections may develop as a result of middle ear infections, which are common to individuals with Down Syndrome. This develops due to a dysfunction of the Eustachian tube, which is located at the back of the throat and is connected to the middle ear (its function is to equalize air pressure on both sides of the eardrum). If there is low tone in the muscles surrounding the entrance to the tube, fast-flowing fluid may enter the middle ear, causing an infection over time. 
In my own experience of working with children with Down Syndrome, tongue protrusion has generally been a transient phase, often associated with periods of teething or throat infections. Cases that have persisted have been a reflection of a more significantly reduced overall body tone and consequently, more significantly delayed oral-motor development. These children have also demonstrated more delayed eating and drinking skills, which is reflected in reluctance to transition from smooth to lumpy foods and delayed biting and chewing skills. Biting and chewing relies on graded jaw movements and the ability to move the tongue in a variety of directions. In encouraging a child to experience biting and chewing safely, both areas can be developed at the child’s own pace.

From an oral-motor viewpoint, there are a number of areas that can be focused on. While the primary focus is on improving oral-motor skills, there will be a knock-on effect in relation to feeding and speech development. Be aware of your child’s level of development and consult with your speech & language therapist, physiotherapist and occupational therapist, to ensure you select an appropriate starting point. To minimize tongue protrusion, your child needs to develop some or all of the following:
  • Stable, central base (i.e. control over the trunk, head, etc.)
  • Increased oral/facial muscle tone
  • Increased oral sensitivity
  • Improved lip movements
  • Improved jaw movements
  • Improved tongue movements. 
As you can see, tongue protrusion may occur for a number of reasons. Many children with Down Syndrome may simply be exhibiting a generalized delay in their development, of which tongue protrusion is one feature. It is important therefore, that a full assessment is carried out, to ensure that the correct remediation path is chosen. It would be inappropriate to focus on skills that the child is unable to achieve. In normal development, these oral motor patterns are generally established by the age of 24 months, but your child may have a developmental delay and difficulties with low tone, so starting any activities at this age may be inappropriate. Every child presents a different picture; therefore every therapy plan should be tailor-made. It is essential that you consult with a speech and language therapist, occupational therapist and physiotherapist to get an overall picture of your child’s physical, sensory and oral-motor development and discuss the value of working on this area. These are the professionals qualified to guide you through the process.
Without the possibility of meeting therapists, you could try some of the suggestions below. Eliminate any medical reasons (e.g. enlarged adenoids/tonsils, teething, throat/respiratory infections, etc.). Select one or two exercises to try, but be aware that doing them all at the same time could be harmful. Adults can often become overenthusiastic and if the child is unable to co-operate with the exercises, they may become resistant to any form of intervention in the longer term. It is vital therefore that you are aware of your child’s strengths and difficulties and give them lots of praise for any attempt that they make. They may require many opportunities to practice and will need you to demonstrate it clearly, in a way that they will understand. Observe your child and take note of the times their tongue protrudes, what they are doing at the time, how long it persists, if they correct it themselves, etc.
Be patient and be prepared to repeat the activity over and over again. It may take time before the skill is achieved. Most of all - make it fun!

  • Don’t do all the activities at the same time.
  • These activities should not be done at mealtimes as this could lead to aversive behaviors around food.
  • These exercises should be dome for short periods of time.
  • Talk through what you are doing, each step of the way.
  • Ensure you are both positioned in a relaxed, comfortable position.
  • Ensure your child is in a stable, supported position.
  • Minimize distractions e.g. TV, radio, other people etc.
  • Pause to allow time to swallow any saliva that may have accumulated.
  • These exercises can be done throughout the day, washing, drying at bathtime, using a towel, sponge, facecloth, etc).
  • Don’t attempt this if your child has a cold.
  • Stop if your child becomes distressed at any time.
Some oral-motor exercises
  • If your child is sensitive around their face, prepare them before you approach their face. Use slow, firm strokes over the hands, arms, shoulders, body and neck with a rough texture (e.g. towel, etc.)
  • Using firm strokes/touch with a rough texture (e.g. towel, etc.) start at the sides of the face / forehead / chin and gradually work towards the centre of the face.
  • Massage the cheeks using circular movements, particularly around the mouth.
  • Use 2 fingers to press the top and bottom lips firmly together. Hold for a couple of minutes and release.
  • Stroke firmly downwards on the area between the nose and top lip while using your finger to push the bottom lip upwards.
  • Using your thumb and index finger, pull the top lip down, starting under the nose and working towards the top of the lip (without touching the lip itself).
  • Do the same for the bottom lip, working from chin to the lip. Support the jaw if necessary.

  • Press the lips together by pressing one index finger below the nose and the other below the bottom lip - rotate the fingers towards the lips.
  • Gradually introduce stronger flavors at mealtimes:
  1. curry,  Chinese sauces, garlic
  2. chips: vinegar, garlic, mayonnaise dip, brown sauce, ketchup, etc.
  3. tangy or bitter flavor fruits and yoghurts: kiwi, lemon, forest fruits, grapefruit, cranberry, etc.
  • Extremes of temperature:
  1. ice-cream, ice-pops
  2. worm food
  • Sensory toys:
  1. “Bumble Balls”
  2. Teethers that are textured or battery operated for vibrations, etc.
Practical ideas for developing jaw and tongue movements
  • When spoon-feeding your child, place the food centrally on the tongue and apply firm downward pressure. This will reduce tongue protrusion that occurs during swallowing.
  • As the protrusion reduces, place the food at the sides of the mouth, between the teeth. This will encourage munching and sideward tongue movements.
  • To stimulate biting, munching and sideward tongue movements:

  1. Initially, do this at times when your child is relaxed.
  2. Initially, these activities should not be done at mealtimes.
  3. Use items such as tethers (ridged etc.), foods that do not break up, bite and stay firm foods, dried, but not too dry fruits: bananas, peaches, apricots, Liquorices sticks, etc.
  • Place the item in the mouth, between the teeth, along the line of the jaw and ensure that it is not placed so as to stretch the lips. Do not place too far back in case your child gags.
  • Place on the best side initially, than move to the other side.
  • If the child is not munching, pull the item out slightly and gently or press down.
  • When you feel your child is confident about their biting skills, introduce food items. Initially use bite-and-dissolve foods (Boudoir biscuits, meringues, Skips/Snax, etc.)
  • If the child is not biting off the food, break it off for them while they are biting down on it. Do not force your child to take foods that their mouth is not ready to handle.
  • Over time, gradually introduce chewier foods in the same way.
Practical ideas for developing lip movements

  • Using a mirror, make “oo” sounds (e.g. a ghost/owl/ monkey/wind etc.) and “ee” sounds (e.g. mouse, E-I-E-I-O, etc.) using exaggerated lip movements. You might need to gently push the lips from a tight stretched position (smile shape) to the round position (kiss shape).
  • Practice kissing. You might need to gently push the lips from a tight stretched position (smile shape) to the round position (kiss shape). Put on some lip stick or face paint and make kiss marks on a mirror, tissue, paper etc.
  • Sucking through a straw. Make a tight lip seal around the straw.
  • Blowing bubbles, blowing cotton wool balls across the table, blowing whistles/party blowers, blowing bubbles in water with a straw, etc.

Down Syndrome - Goals for child with DS

Providing activities and experiences to help the infant develop:
  • auditory, e.g. experience what a bell sounds like,
  • visual skills and memory,
  • tactile skills including sensory exploration and sensory feedback, e.g. experience sensations while touching velvet or sandpaper
In the treatment program focus on:
Sensory stimulation
The massage program, e.g. using the NUK massager - description of the program in an article by Kumin and Chapman (1996).
  • To tolerate touch in the lip and tongue area, e.g. brushing teeth
  • To accept certain textures of foods (mixed food textures). 
Begin with the arms and legs - Gradually move toward the face and intra oral area.
  • oral massage
  • direct muscle stimulation
  • oral normalization program
Once the child can tolerate touch and can freely move the articulators, an oral motor skills program is introduced
·         blowing whistles
·         blowing bubbles
·         making funny faces
·         making sound imitation activities
Generally, the clinician will imitate the child rather than providing a model to imitate.

Feeding therapy
Speech is an overlaid function in the human body. Feeding and respiration involve many of the structures and muscles used in speech.

Social interaction
Turn taking can be developed at a very young age through play (MacDonald, 1989);
  • Peek-a-boo games
  • Handing a toy
  • Musical instruments
Conversational skills
Although speech is the most difficult communication system for children with Down syndrome, more than 95% of children with Down syndrome will use speech as their primary communication system. Babbling and sound making increase after the oral normalization activity.

Pre-language skills Therapy should begin early, before the child speaks the first word (Kumin et al., 1991).

Down Syndrome and Medical Problems

Down syndrome is one of the most common genetic syndromes, occurring in one of 800 to 1,000 live births.1 In approximately 95 percent of cases, the syndrome is caused by simple trisomy due to nondisjunction (nonsegregation) of chromosome 21 in the formation of the oocyte or spermatocyte. In 4 to 5 percent of cases, the syndrome is caused by a translocation (link) of one chromosome 21 to another, usually a chromosome 14 or the other chromosome 21. The remaining 1 percent of cases are mosaics (more than one cell line) caused by nondisjunction occurring after conception.

Although babies with Down syndrome can be healthy as any other children or they can also have special medical problems. The good news is that medical treatments have improved substantially, and the vast majority of babies with Down syndrome grow up healthy and active.

Risk of Medical Problems
Children with Down syndrome are at an increased risk for a wide range of medical problems. These potential problems include congenital heart defects, increased susceptibility to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. However, not every baby with Down syndrome develops health problems and most of these health problems are now treatable.

Congenital Heart Defects
A congenital heart defect is a heart problem that is present at birth. Between 30 and 45 percent of babies with Down syndrome are born with heart defects. These defects vary from mild defects which may disappear with time to severe defects which will require major surgery. In most cases a cardiologist can detect a heart defect soon after birth.
The most common congenital heart defect is Atrioventricular (AV) Septal Defect. This problem occurs when the valves separating the atrium (upper chamber of the heart) from the ventricle (lower chamber of the heart) leak allowing blood to flow in the wrong direction. This problem is quite serious but can corrected with surgery in infancy. The second most common problem is a hole in the wall of either the ventricles (Ventricular Septal Defect or VSD) or between the atrium (Atrial Septal Defect or ASD). Small holes do not cause any strain on the baby and often close by themselves. Larger holes may require surgery. Babies with heart defects sometimes show symptoms. These symptoms can include feeding problems, a change in color during feeding, poor growth, and labored breathing.

Endocrine Problems
The endocrine system is made up of the glands that produce and secrete hormones. These include the thyroid, the pituitary gland, the adrenal glands, the pancreas and many others. The most common endocrine problem in children with Down syndrome involves the thyroid. The thyroid, located in the throat, is the largest endocrine gland in the body. The thyroid secretes a wide array of hormones that regulate metabolism, heart rate, and growth.
The most common type of thyroid problem both among the general population and children with Down syndrome is hypothyroidism.
  • Hypothyroidism means that the thyroid is not producing sufficient amounts of hormones. Hypothyroidism can be a serious problem if left untreated so it is important that children with Down syndrome be tested at birth and then on a yearly basis to insure that the thyroid is working correctly. Untreated, hypothyroidism can lead to slow growth, skin disorders, blood disorders, sleep disorders, learning disorders, and feeding disorders. Fortunately, hypothyroidism can be easily treated with an oral medication, L-thyroxine. This is an inexpensive medication which serves to replace the missing hormones.
  • Hyperthyroidism is a condition where the thyroid produces too much thyroid hormone. One form of this condition is Graves disease. Symptoms include nervousness, irritability, increased appetite, increased perspiration, disturbed sleep and an enlarged thyroid. This condition is treated with medication to block the production of thyroid hormone. In some cases the thyroid may be removed or destroyed with radioactive iodine. In this case, L-thyroxine would be used to replace the thyroid hormones.
Children with Down syndrome may have a shortage of growth hormone (hGH) which is produced in the pituitary gland. hGH replacement is fairly controversial, but a child with reduced levels of hGH may be a candidate for hGH replacement therapy. It is quite common for children with genetic disorders such as Down syndrome to be short in stature and special growth charts have been developed for children with Down syndrome. However, some doctors have come to believe that children with Down syndrome should be charted on the normal growth charts. If a child fails to grow on these charts, it may be a sign that there is an endocrine problem such as hypothyroidism or hypopituitarism.

Skin Problems
Infants with Down syndrome tend to have very soft skin but as they grow older their skin can become dry and coarse.
  • A common problem for children with Down syndrome is Atopic Dermatitis (also called atopic eczema). This is a condition where the child has a dry, red, and scaly rash usually on the cheeks, arms, legs, or trunk. This condition is actually found in up to 10% of all children but is more common in children with Down syndrome. No permanent cure exists but the condition can be controlled. The skin should be treated with moisturizers and mild soaps or soap-free cleansers (such as Cetaphil) should be used to clean the skin. More severe cases should be treated by a dermatologist who can prescribe topical corticosteroids. Some parents have reported successfully treating atopic dermatitis by eliminating dairy and gluten (found in wheat) products from the diet. Some kids have atopic dermatitis on cheeks and chin. Replacement of cow milk with soy milk and switching to rice cereals can show dramatic improvement in skin condition in a very short time.
  • Alopecia Areata (AA) is an autoimmune disease involving the hair and nails. Although rare, it does tend to occur more often in people with Down syndrome. It is believed that AA is an autoimmune reaction where the body attacks its own hair follicles. A person with AA usually develops bald patches although generalized thinning or complete baldness may also occur. In most cases, children with AA may have a few small patches that disappear without treatment within one year. AA can be treated with topical steroids or topical irritants but in young children these treatments are usually not practical.

Gastrointestinal Problems
The gastrointestinal (GI) tract consists of the parts of the body that take in food, extract the nutrients, and dispose of the waste. Gastrointestinal problems tend to be more common in children with Down syndrome than in the normal population, however most of these conditions are rare. Gastrointestinal problems fall into two basic area:
  • anatomical anomalies - the structure of the organs is abnormal
  • functional disorders - the organs do not work the way they should
The most common anatomical anomalies are:
  • Aganglionic Megacolon - Also called Hirschsprung's disease, this is a condition where parts of the bowel have no nerve cells. Children with this condition can become extremely constipated. Severe cases can be life threatening if left untreated. Hirschsprung's is normally treated by surgically removing the part of the bowel that does not function correctly.
  • Annular Pancreas - This is a condition in which the pancreas is ring-shaped and constricts part of the intestine. Depending on the amount of constriction, this can be a serious medical emergency. This condition is normally treated surgically.
  • Duodenal Atresia and Duodenal Stenosis - Both of these conditions involve a narrowing of the small intestine the difference being the amount of the narrowing. In duodenal atresia, the first part of the intestine where it connects to the stomach is completely blocked off. Since no food can pass from the stomach into the intestines, this condition must be treated immediately by surgically removing the blocked part of the intestine. A duodenal stenosis involves a narrowing of the intestine. Depending on the amount of narrowing, surgery may be required. In less serious cases, the condition may be managed through diet.
  • Imperforate Anus - This is a condition in which the anus (the external opening of the colon) is blocked. This condition is normally treated with surgery within the first few days after the baby is born.
  • Tracheo-Esophageal Fistula - This is a condition where there is an opening between the windpipe and the esophagus. Some children have this condition without developing any problems. Others may require surgery to close the fistula to prevent fluids from travelling from the esophagus into the trachea.
  • Pyloric Stenosis - This is a narrowing of the pylorus, the junction where the stomach empties into the small intestine. This is treated with a simple surgical procedure that usually works very well.
It is important to understand that any of these conditions can occur in any child although they do tend to be more common in children with Down syndrome.
The most common functional disorders are:
  • Esophageal Motility Disorders and Gastro-esophogeal Reflux. Children with Down syndrome often have problems with reflux. Reflux does not mean that the child spits up during or after a feeding. In most cases, this simply means the child has swallowed air. Reflux can occur because the esophagus is having trouble propelling food into the stomach or it may occur because the stomach is emptying too slowly. Persistent reflux may cause serious problems since the stomach contents are highly acidic and can damage the esophagus, larynx, or trachea. If the child aspirates stomach acids, they may gag or cough just after feeding. Reflux is normally treated with medicines to reduce stomach acidity and to help move food through the stomach faster. In many cases, the child may grow out of the problem.
  • Malabsorption Disorders - Children with Down syndrome sometimes have a condition called celiac disease in which the intestines lose the ability to absorb nutrients. This condition is normally treated by eliminating gluten from the diet. There are other malabsorption disorders but children with Down syndrome are no more likely to have these conditions then the rest of the population. Some children with Down syndrome may have trouble absorbing certain vitamins. If the child is not growing well or has an increased number of ordinary infections that are difficult to cure, they may have a vitamin absorption problem. A blood test can help to determine if this is a problem.

Respiratory Problems
Children with Down syndrome are at risk for Respiratory Infections. Some respiratory infections are caused by a weak cough which is sometimes seen in children with hypotonia. Other causes of respiratory infection are heart problems leading to fluid in the lungs, regurgitation of food from the stomach into the lungs, and weakened immune systems. Sleep apnea, temporary stopping of breathing during sleep, is also sometimes seen in children with Down syndrome. Sleep Apnea is often caused by the adenoids or tonsils being too large for the size of the mouth. Symptoms of sleep apnea include restlessness, noisy breathing, and snoring. This can be a serious problem since the baby may have reduced oxygen levels to the brain. Treatment can include removing the tonsils or adenoids.

Orthopedic Problems
Children with Down syndrome experience a wide range of orthopedic problems due to their loose ligaments and hypotonia. These problems include scoliosis (side-to-side curvature of the spine), joint dislocation, hip and knee cap instability, weak ankles, and problems with the feet including pronation and flat feet. Some of these conditions may not produce any symptoms while others may require surgery depending on the severity.
As many as 20% of all children with Down syndrome may have a weakness or instability in the spinal column in the neck. This is a condition called atlanto-axial instability. This condition, if not diagnosed, can lead to spinal cord damage which can lead to paralysis or death. It is important that children with Down syndrome be screened for this condition. Screening is done with both a neurological exam and with x-rays. Normally, the screening is done between the ages of 4 and 6. Treatment will depend on the amount of instability present and the distance separating the vertabrae. If the condition is severe enough, surgery may be required.

Problems with Vision and Hearing
Close to 70 percent of children with Down syndrome will have some type of vision problem. These problems include farsightedness, nearsightednes, strabismus (crossed eyes), amblyopia (lazy eye), astigmatism, cataracts, and blocked tear ducts. All of these problems can be treated if detected early. All children, not just children with Down syndrome, should have their eyes tested.
Studies suggest that 60 percent of children with Down syndrome experience some type of hearing loss. The development of speech depends on hearing so it is important that children be tested to determine if they are experiencing hearing problems. Hearing loss can be treated with antibiotics to treat infections, eustachian tubes (implanted in a minor surgical procedure) to remove fluid from the inner ear, or, if necessary, hearing aids. With early detection, children with Down syndrome should be able to hear normally.