Ask Dr. Trotter
Should all children with DS be screened for celiac disease?
Question: We have an 18 month old son with Down syndrome [DS] who we think is doing well. We read a recommendation on a DS website that all children with DS be screened for celiac disease. Our pediatrician is unsure this recommendation makes sense. Should we do this, and if so, how is it done?
Answer: Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. Children [or adults] who have celiac disease [CD] cannot tolerate a protein called gluten [found in wheat, rye and barley]. When people with CD eat foods or use products containing gluten, their immune system responds by damaging the small intestine, and they become malnourished due to the poor absorption of nutrients. CD is a genetic disease, meaning it runs in families, and can be triggered at any point in the lifespan. CD may be triggered - or become active for the first time - by the introduction of gluten to the diet [typically around 1-2 years of age] or by such diverse events as surgery, pregnancy, viral infection, or severe emotional distress.
There are basically 3 steps necessary for a child to develop CD. First, they need the genetic makeup that makes them susceptible to this disease. Second, the child needs to be exposed to gluten. Third, the "trigger" must occur that allows the immune response to damage the small intestine lining. CD affects people differently. The most common symptoms in childhood include failure to grow, weight loss, excessive gas, recurrent abdominal bloating and pain, and chronic diarrhea, and irritability. So why is this disease of interest to the DS community? It appears from studies done in the last decade that people with DS are at higher risk to develop CD than the general population. In the United States the general population has between 0.5- 1.0% risk of developing CD, while various studies have found a 4-7% risk for children with DS. With our understanding of the increased risk for children with DS, a good deal of discussion is taking place nationally regarding the wisdom of screening all DS children for CD at age 2 years. At this time there is no clear cut recommendation and a number of studies are ongoing.
One of the major problems making the screening recommendation difficult is the difficulty in making the diagnosis of CD. The only absolute way to diagnose CD is through a small bowel biopsy. In children this requires anesthesia and direct endoscopy. Since such a procedure is invasive, expensive, and carries some risk, it is not in the best interest of the child or family to do a biopsy on every child with DS. Recently, research has shown that children with CD have higher than normal levels of certain auto antibodies in their blood. These antibodies can be measured with a simple blood test. Unfortunately these tests are difficult to perform in the laboratory and difficult to interpret. They do, however, give us a reasonable device to identify those patients who should have an intestinal biopsy. The currently recommended tests for this screening include:
Immunoglobulin A [IgA]
anti-tissue transglutaminase
[tTGA]
IgA anti-endomysium
antibodies [AEA]
Until we resolve the controversial issue of routine screening, I certainly recommend testing all DS children who have any of the clinical signs and symptoms of CD. As CD is a very difficult disease to diagnose and the symptoms overlap with many other medical conditions [irritable bowel syndrome, Crohn's disease, iron-deficiency anemia, intestinal infections, and many more], don't hesitate if CD is one of the possibilities.
Treatment of CD is simple to prescribe and very difficult for children and families to follow... the complete avoidance of gluten. A gluten-free diet includes eliminating all wheat, rye and barley, as well as the many products that have gluten as an ingredient [read a few labels and you will see how prevalent this nutrient is in most of our diets]. I would only start such a diet with the help of a registered dietician.
Our teenage son was recently diagnosed with a mental health problem
Question: Our teenage son was recently diagnosed with a mental health problem the doctors called a "psychotic break". He was delusional and very agitated. He required medication prescribed by a psychiatrist to get his symptoms under control. Is this more common in individuals with Down syndrome and should it he be treated any differently than usual?
Answer: A number of recent studies have shown that the incidence of mental health or psychiatric disorders in individuals with Down syndrome [DS] is somewhat higher than the general population. The estimates run from 15- 20% for children with DS to 20-30% for the adult population. The term frequently used to describe the combination of a person with a developmental delay/mental retardation syndrome AND a psychiatric disorder is "dual-diagnosis". The majority of DS individuals with dual-diagnoses suffer from the mood disorders: depression, anxiety and bipolar disease; with a smaller number affected by obsessive-compulsive disorder, schizophrenia and other psychosis. In general, these disorders are not treated any differently in patients with DS, although the diagnosis can be considerably more difficult to make.
The difficulty in diagnosing mood disorders [and mental illness in general] in patients with DS is the overlap of many features. The following behaviors, often seen in patients with mental health diagnoses, would likely be considered normal in many children with DS: routine-oriented, resistant to change, stubborn, repetitive motor acts, self-talk, teeth grinding, and hypersensitivity to touch. So how to tell if these behaviors are indications of a mental health issue that should be addressed? Watch for behaviors that are occurring more frequently, increasing in severity or intensity, or lasting longer. Behavior that represents possible self injury or injury to others should be a signal to be aware of these types of changes.
There are other clues to look for besides the behavior itself. These include physiological changes such as abnormal sleeping or eating patterns, dramatic increase or decrease in activity, and actual loss of established skills.
DS patients with mood disorders [depression and anxiety being most common] are typically treated with SSRIs [selective serotonin reuptake inhibitors] such as Prozac, Zoloft, Paxil, and others, and with ongoing counseling. The success rate of therapy in this group is reasonably high.
With a psychosis you will see a loss of contact with reality. These individual often hallucinate or report delusional beliefs, and may exhibit personality changes and disorganized thinking. This is frequently accompanied by bizarre behavior, as well as difficulty with social interaction and impairment in carrying out activities of daily living. A wide variety of nervous system stressors can cause a psychotic reaction. The reaction is considered a symptom, not a diagnosis. Causes of psychosis may be primary, which includes the psychiatric disorders [schizophrenia, bipolar disorder, depression, severe psychosocial stress], or secondary, which includes many neurological and medical disorders [Down syndrome may well be one of those, although thus far unproven], as well as an adverse response to certain medications.
The treatment of psychosis I depends on the cause or diagnosis. The first line treatment for many psychotic disorders is antipsychotic medication [Haldol, Resperidol, Zyprexa] accompanied by counseling. Brief hospitalization is sometimes needed.
As with many other medical issues, children and adults with Down syndrome are somewhat more susceptible to many of these mental health disorders. As parents and physicians, we need to remain vigilant to mental health changes that lead us to a diagnosis and to early intervention. Remember, you know your child best. If something doesn't seem right, you are probably correct and should bring it up to your physician.
Testing for ADD/ADHD
Question: We just had a parent-teacher conference with our son's 2nd grade teacher. She is concerned that he is easily distracted and has a poor attention span. She suggested we should look into testing him for ADD/ADHD. This issue has never been brought up before. Why is this suddenly an issue and how can we get testing done?
Answer: Attention deficit hyperactivity disorder, or ADHD [ADD is without hyperactivity], is a commonly diagnosed childhood problem. ADHD is characterized by distractibility, impulsively, decreased attentiveness and may have nondirected motor activity. When these very normal traits interfere with a child's function in the classroom setting, the diagnosis is often considered. I attended a recent conference discussing children with special needs and will pass on to you the approach used by Dr. Dianne McBrien, who is a developmental pediatrician at the University of Iowa and has a special interest in children with Down syndrome.
All children, including children with DS, display these traits on a daily basis. Children with DS may exhibit these traits more often than other children their age, but there is no evidence that ADD occurs more commonly in children with DS. There is even some research suggesting that ADD is less common in children with DS than in the general population. In clinical studies done by Dr. McBrien and others, it has been found that children with DS who display enough of these traits to come to the attention of the child's teachers or parents were more often found to have either medical or educational problems as opposed to ADD. Therefore, I would urge you to investigate those issues before pursuing the diagnosis of ADD. There is no test for ADD at this time. It is a diagnosis of exclusion based on no other explanation for the symptoms of distractibility, impulsively and poor attention span.
There are a number of common medical problems that could lead to a classroom teacher to be concerned about possible ADD:
Hearing and vision problems can easily cause a child to appear inattentive or distracted. Both of these problems are quite common in children with DS and if untreated can lead to severe learning issues. Hearing and vision should be tested yearly.
Thyroid problems affect over 35% of people with DS, often with an onset during the school years. Hypothyroidism [underactive thyroid gland] often causes a child to appear listless and apathetic. Hyperthyroidism [overactive] can cause agitation and restlessness. I have had patients with each of these conditions who were first diagnosed because of concerns at school. Because thyroid disease is so common in the DS population, and because it is difficult to detect by exam, I recommend an annual blood test for thyroid function. Sleep disorders commonly are diagnosed in the process of evaluating learning/school problems in both the general population and in children with DS. Patients with these disorders often have obstructive sleep apnea and awaken hundreds of time per night. You can imagine how these sleep-deprived children do in school the next day. If your child snores constantly, thrashes about while sleeping, or appears tired all the time, I would encourage you to discuss the possibility of a sleep disorder with your child's physician. Communication problems affect all DS children and can make classroom participation very difficult. Children with DS often understand very well and express what they know with much more difficulty. This often leads to frustration that might be expressed by acting out [hyperactivity] or tuning out [inattention].
As with all children, Children with DS may also have specific learning disabilities or emotional reasons that would lead to the symptoms associated with ADD. Both parents [the experts on their child] and teachers [the educational experts] need to consider these possibilities carefully before attaching the label of ADD.
If your son's evaluation does not reveal any medical, educational or emotional causes for his symptoms, I would then [and only then] suggest speaking with your pediatrician about evaluating him for ADD.
The physical changes of puberty
Question: Our 11-year-old daughter is already starting to have some physical changes of puberty. Is this too early? Do children with Down syndrome have earlier adolescence or different problems during puberty? What do you see as the problems facing us and our daughter during the next 5 or 10 years?
Answer: Welcome to the next stage of the parenting marathon. Adolescence is a challenging time for parents regardless of how many chromosomes the child happens to possess. The transition from childhood to adulthood is marked by a longing for and a fear of independence (by both parents and children). Physical appearance becomes much more important as puberty brings changes to the body. For the adolescent with Down syndrome it also becomes a time for evaluation of the skills developed throughout childhood and a time for new directions more focused toward specific vocational aims.
The first children with Down syndrome to benefit from home rearing [and specific educational and medical support] are now in their teenage years and early adulthood. They are continually challenging our outdated perceptions of their abilities to make this transition. It is a time of sensitivity and new opportunity.
From the medical standpoint many of the special problems are really only "special" to puberty as opposed to Down syndrome. A normal sequence of development of primary and secondary sexual characteristics occurs. When this sequence is either delayed or accelerated, thyroid function needs to be first investigated. More than one-half of all Down syndrome individuals with thyroid abnormalities will have them show up during the second decade of life. I strongly recommend yearly or every-other year thyroid function testing during these years.
The problems of adolescent sexuality are complex under the best of circumstances and even more difficult when developmental disability must be considered. It was once thought that the majority of Down syndrome patients were infertile. This is clearly not the case with a large portion of females and a few males. Because fertility must be assumed, the area of reproductive health must be considered by all parents. For the girls this means menstrual hygiene management and prevention of sexual abuse and unwanted pregnancies. An excellent resource on these subjects is a book by Edwards and Wilkins titled Just Between Us: A Social Sexual Training Guide for Parents and Professionals.
Puberty is accompanied by a normal weight gain spurt in DS patients, but may often not have a proportionate height increase. This may significantly add to the already present tendency toward obesity. As obesity can very badly impact both their health and their self-esteem at a sensitive time, good nutritional counseling and a daily exercise program should be high priorities.
Although most of the medical problems in this age group are more related to puberty than DS, there are some special concerns with noting. Although the major eye or vision problems should have been well under control by 12 years of age, the incidence of refractive errors requiring glasses continues to be quite high (70+% in some studies) and an abnormality of the cornea called keratoconus occurs in 15% of DS individuals. This disorder presents with decreased vision, tearing and redness of the eye. Surgical replacement of the cornea may be necessary. Visual screening should occur yearly and referral to the ophthalmologist as indicated.
Skin problems plague all teenagers including those with Down syndrome. Acne seems to be no greater or lesser a problem in DS patients, but their inherently dry skin makes treatment a bit more difficult. Another skin lesion more specific to DS patients is folliculitis or staphylococcal blisters. These skin and hair follicle infections occur in up to 50% of this age group and often occur in the genital area, buttocks and thighs. These may require both oral and topical antibiotic therapy.
Lastly, a young person with Down syndrome may become antisocial, moody or depressed (of course this describes the "normal" adolescent as well!). As parents and physicians also tend to become "moody" when dealing with teenagers, this is a common time to seek appropriate referral for counseling if needed.
GOOD LUCK!
Difficulty with acne
Question: Our 15 year old son is having difficulty with acne the last year or so. Treatment has been hard because everything we have been given causes drying of the skin. He has had eczema since he was a baby and the combination of his already dry skin and the acne treatments is really tough. Do children with Down syndrome just have bad skin? Are there any special treatments that might help?
Answer: Although acne is not found with any increased frequency in patients with Down syndrome, it is more difficult to treat because of the tendency toward dry skin that nearly 75% of adolescents and adults with DS suffer from. The combination of acne and eczema is tough to treat without side-effects, and I would recommend discussing options with a dermatologist.
I do receive many questions about skin problems in patients with DS. While there are no skin disorders that are specific to individuals with DS, there are a number that occur more commonly than in the general population. Conditions that are observed in persons with DS with high frequency [over 50% of patients] include xerosis [dry skin], atopic dermatitis [eczema], fungal infections [athlete's foot, etc], and bacterial folliculitis [hair follicle infections].
Xerosis In the infant with DS, the skin is soft and normal. In later childhood, the skin becomes dry, pale, and somewhat lax or loose. By the age of 15, over 75% of persons show significant dryness. Xerosis is best managed by the limited use of nondrying soaps [Lever 2000/Dove/Ivory] and the use of lubricating creams.
Atopic Dermatitis Atopic dermatitis [eczema] usually presents in the first two years of life as scaly, red patches and redness and dryness in the creases of the neck, elbow and knee. This condition is apparent in over 50% of children with DS. These lesions are often very itchy and can become thickened secondary to rubbing and scratching. Treatment is aimed at controlling itching, dryness and inflammation. This typically involves the use of hydrocortisone based cream or ointment, moisturizing creams and lotions and oral antihistamines.
Fungal Infections Fungal infections affect a little less than 50% of DS patients by the time they are 15 years old. The most common is the typical "athlete's foot", which presents as itching, redness and peeling between the toes. You can also have small circular patches of infections on the body or scalp, and this is often termed "ringworm" because of its appearance. These infections on the body or feet can usually be readily treated with topical anti-fungal creams such as Lotrimen or Lamisil. The scalp variety, as well as a less common form that can infect the toenails and fingernails, must be treated with an oral anti-fungal medication.
Folliculitis When skin is excessively dry [and especially with eczema] there is an increased risk in the hair follicles becoming infected. These infections are common from puberty on and are typically caused by staphylococcal bacteria. Mild infections can often be managed with topical antibiotics, but more widespread involvement requires oral antibiotics as well. In patients who suffer from recurrent folliculitis there are now some programs experimenting with topical antibiotic lotions [usually used in treating acne] as a prevention tool.
Beware of these skin problems. Each of them can be a real nuisance, but are all readily treatable. Also keep in mind that summer is coming and sunscreen should be on your shelf, in your car and in the sports bag [oh yes, and on your skin].
Learning to ride a two-wheel bicycle
Question: Our 11 year old son with Down syndrome cannot seem to learn to ride a two-wheel bicycle. He is playing soccer and Challenger baseball and doing well, but the bicycle has him frustrated. Why is it so difficult for him and how can we help?
Answer: Your son is in a very large club... the non bike-riding Down syndrome club. There are many reasons that it is difficult for children with DS to ride a two-wheel bicycle. Because of this, only 10% of people with DS will learn to ride a bicycle without training wheels. This compares to an overall rate of 90% success under the age of 12 years and a97% success in chi ldren with no obvious motor problems. So why is this particular skill so difficult and frustrating for our children with DS?
The diverse combination of requirements that are required to ride a two-wheel bicycle are as follows:
- Balance control
- Adequate vision
- Kinesthetic sense [the "feel" for motor and touch]
- Spatial sense [where are you and the bike oriented within your environment]
- Muscle strength and tone 6 Body size that fits the b le 7 Confidence This set of requirements is much more complex than those needed to be successful at most other gross motor activities such as crawling, walking, running, or kicking a soccer ball. As you know, virtually all children with DS eventually accomplish all of these developmental milestones, although a bit later than average:
- Walk [lo-18 months]
- Kick [15-24 months]
- Run [ 24-26 months] So let's look at the factors that delay motor development in general and more specifically impact riding a bicycle for the child with Down syndrome:
- Balance: Research has shown that the cerebellum [the part ofthe brain that controls balance] in individuals with DS is smaller and has many less nerve cells than the typical brain. This leads to poor balance control.
- Vision: By the time children with DS are ready to ride a two-wheeler, at least 30-50% of them will have some vision problems Another important reason to have that every 1-2 years ophthalmologist visit, as most of these problems are readily corrected with glasses.
- Kinesthetic sense: The ability to perform a motor task by "feel" using the instinctive relationship between large muscles and touch is impaired in the average patient with DS. Most gross motor activities must be specifically taught and practiced to be mastered. Many of the rest of us are in that same boat] 4.Spatial sense: Motor spatial performance is the physical movement through time and space. It deals with a continuing instantaneous assessment of size, distance, order and relationships of objects within any space. The areas of the brain that provide this complex organizational information work less well in individuals with DS and impacts everything from writing to riding a - bike.
- Strength: All individuals with DS have decreased muscle strength. Strength can be improved significantly with muscle use, so get out there and exercise.
- Tone: Tone is different from strength, impacts all people with DS, and is not much improved with exercise or therapy. Tone is the tension a muscle has when it is resting and is controlled by the brain ["central hypotonia"]. The impact of hypotonia on learning motor skills is enormous. The inability to feel stable in the stomach, trunk and shoulders makes standing, walking and especially riding a bicycle very difficult.
- Ligamentous laxity: Children with DS have increased flexibility I their joints. This is most noticeable in the hips, knees and feet. This flexibility leads to less stability at those joints and much more difficult time balancing.
- Body size: The reason most manufacturers or bicycles make the first two-wheelers that size they do is due to their understanding that the average 4 years old will be the first group ready to accomplish this task [40 inches and 40 pounds]. The average child with DS will be that size between 6-8 years of age. Even more important is that the arms and legs of children with DS are short relative to the rest of their bodies. Therefore, they will not comfortably "reach" the pedals on a typical bicycle until 10-12 years of age.
- Confidence: Well, how would you feel if you were handed all the issues in 1-8 above? That elusive thing we call confidence is really a mixture of physical equipment, ability, practice and mindset.
Despite all these challenges, more and more children with DS are learning to ride two-wheel bicycles [and accomplishing motor skills many folks thought they would never master]. The primary difference for children with disabilities is that learning [anything] may require additional time and specialized teaching strategies. This is certainly true with riding a bike.
There is some wonderful work going on at the University of Michigan Center of Motor Behavior and Pediatric Disabilities under the direction of Dr.Dale Ulrich. He has partnered with Dr. Richard Klein from the University of Illinois, who has invented an adapted bicycle that has helped hundreds of children with DS master the two-wheeler. Another excellent resource is Patrician Winders valuable book [Gross Motor Skills in Children with Down syndrome: A Guide for Parents and Professionals], which explains more fully the challenges of motor development and the role of therapy in helping our children with DS reach their potential.
