Frequently Asked Questions
How can I ensure proper medical care for my child?
Everyone is unique. He has his own personal history in which strictly biological elements interfere in his family life, lifestyle, emotional environment; his sorrows and joys, education and rehabilitation are all affected. This means that everything that can be suggested to those responsible for the disabled can only be taken as generalities, to be adapted to each specific case when the time comes.
What paediatric supervision is best for my child?
Classic paediatric supervision may certainly be entrustedto a paediatrician or physician who treats other family members.Vaccinations should be given according to the usual calendar, with the same precautions. These children have no more side effects from vaccinations than others.Vaccinations against hepatitits B and measles must be on the vaccinations calendar because these two diseases can be particularly severe foryour adolescent. It is also recommended to vaccinate them against pneumococcus, a bacteria that may cause otitis and meningitis. For some children, especially those with weak lungs, vaccination against influenza is recommended, as well as one against respiratory syncytial virus (RSV), which can cause bronchiolites in infants.
How often shouldmy child see his physician?
Each person will have a different pacing, depending on his development. Both the effects of the Down syndrome (some children have a satisfactory psychomotor development, others have more trouble in learning to walk or speak, toilet training, etc.) and additional problems (ophthalmologic, cardiac, orthopaedic, etc.) need to be watched.Each complication has its own specific pacing.
For Down syndrome, the frequency of consultations depends on the patient’s age: it can be from two to three times a year for the very youngest, to once a year for the older ones in good health. But don’t hesitate to consult for each unexplained change in behaviour, for example, even if the last visit was very recent.
As with any other person, the patient should consult his attending physician, paeditrician or general practitioner when he is ill.
Can we get access to specialised medical structures?
Down syndrome is diagnosed by physicians or hospital, genetics or paediatrics departments. The attending physician and specialists are responsible for his on-going care throughout childhood, often in coordination with physicians of the following structures:
1) Until 6 years old: Two medical and rehabilitation structures which provideon-going carefor psychomotor development and, depending on the centre, complete medical care. These are the CAMSP (Centres for early medicosocial action; consult the website Internet Service-Public.fr:http://vosdroits.service-public.fr/F1868.xhtml), where the child goes to it, and the SESSAD (Service of special education and home care; consult the website Internet Service-Public.fr : http://vosdroits.service-public.fr/F14984.xhtml), which sends its professionals to the child's home.
2) After 6 years: When the child is in school in an IME (Medico-educational institute), or a SIPFP (Section for professional initiation and pre-training, previously IMPro, Medico-professional institutes), the care is educational and rehabilitational. These structures do not exist in all cities and places are not always easy to obtain, being often attributed by commissions. All rehabilitation is covered by health insurance in these structures.
3) Adult age: Persons in an institute (a home, ESAT home, specialised home or MAS, etc.)are cared for by the physician responsible for the medical management of this institute. For example, all during their life, the Jérôme Lejeune Institute, offers multidisciplinary consultations ensuring the patientcomplete and regular medical, social and rehabilitative care. Other structures are emerging in France and offer the same type of care.
What kind of on-going ENT care is right?
ENT: (Ears, nose, throat): The child must be able to breathe normally. So watch that he is not congested, which is what babies are the most subject to because they are more sensitive in ENT matters.Every morning, or even several times a day, you can clean the baby's nose with a sterile saltwater solution. When the child is older, a nasal spray will permit good nasal hygiene.
In case of a cold and chronic bronchitis, you will have to do the necessary to stop the infection. A respiratory physical therapist may be needed for the child’s bronchial infections. However, repeated ENT infections may be the result of an allergy to lactose, which is why it can be good to have an allergy test.
What ENT follow-up is right?
Depending on your physician’s advice, an ENT review is necessary once a year or even more often; cotton swabs, even those specially made for babies, are strongly discouraged. If the medical treatment is not enough, removal of the adenoids and insertion of trans-tympanic ear tubes may be indicated. These problems may also be related to a defect in the inner ear (perceptive deafness) and may require wearing a hearing aid. These two causes of deafness may be associated (mixed deafness).
Is my child subject to ear infections?
The ear canals of these children are often narrow and therefore plug up more easily, making examination of the eardrums impossible for a non-specialist. This makes an examination of the eardrum more delicate.Ear infections are frequent, especially serous otitis. Hearing disorders are frequent and may be linked to a chronic serous otitis (conductive deafness). In general, ear infections do not hurt or produce fever, but they lessen hearing acuity.
A regular ENT consultation, every three or four months, must be done from the earliest age because these children frequently have ear infections thatdevelop without anyone being aware of them; they may then become complicated by hearing loss (serous otitis). A treatment with trans-tympanic ear tubes (“diabilos”) and removal of the adenoids may avoid irreversible hearing loss. Trans-tympanic ear tubes are small tubes inserted through the eardrum to allow liquid accumulated behind it during an ear infection to drain out.
The adenoids consist of slightly soft tissue in the back of the throat, and they serve to fight bacteria. If this tissue is too voluminous, it no longer acts as a filter but, to the contrarypromotes ear infections by obstructing the Eustachian tube opening which allows the ears to communicate with the throat. By removing the adenoids, the ENT specialist sometimes treates chronic ear infections and treats conduction deafness. Hearing is thus restored.
How can I have my child’s hearing problems treated?
Hearing requires ENT monitoring because it is a particularly important sense. For these persons, any hearing loss may lead to withdrawal into themselves, breaking contact with those close to them.
With age, the person may develop a so-called perceptive deafness: deafness due to damage to the inner ear which processes sound information. The sound must then be processed by a hearing aid.
What diagnosis for the heart?
Heart: Almost half of these children have a congenital cardiac malformation (heart disease). They must be regularly followed by a cardiologist. For the others, medical monitoring may lead to consulting a cardiologist for an opinion.
What heart diseases may my child be subject to?
The most characteristic heart disease of Down syndrome is the atrioventricular canal (AVC). This malformation creates problems of communication between the ventricles (interventricular communication), associated with communication between the atria (atrial septal defect). It is at the origin of a large communication between the left heart in which blood pressure is high (because it sends oxygenated blood under high pressure throughout the organism), and the right heart (which sends blood under low pressure, full of carbon dioxide and poor in oxygen towards the lungs). This abnormal short circuit, called a shunt, brings blood from the left heart into the right heart. There are two possible harmful consequences: blood pressure that is too high in the pulmonary artery (pulmonary arterial hypertension) and the lungs, as well as failure of the left ventricle (cardiac insufficiency).
Less frequently, there can be isolated communication between the right and left ventricles (interventricular communication).Even less often, there is a continuing patent ductus arteriosus (PDA), a communication existing in the foetus between the aorta and pulmonary artery which normally closes at birth. More rarely, there can be a complex malformation called tetralogy of Fallot, which can create the risk of sudden death. Congenital heart diseases create a risk of infection of the internal wall of the heart (endocarditis).
In the adult there are sometimes signs of arterial hypotension (lowering of arterial blood pressure) and an insufficiency of the cardiac valves (the cardiac valves become softer and function less well).Varicose veins of the lower members are frequent and affect mainly the men.
How can heart disease be treated?
The treatment of congenital cardiac malformations depends on the type of heart disease, how it is tolerated and the person’s general condition. Sometimes regular medical monitoring will be enough. In other cases, medicaltreatment may be necessary, or a partial surgical procedure will be considered (stitching of the pulmonary artery). Finally, it is sometimes possible to surgically completely correct the heart pathology.
What are the possible digestive problems?
Certain digestive malformations are frequent:
1) œsophageal atresia: interruption of the œsophagus which communicates with the respiratory passages. All newborns in France are systematically examined for this defect. It is then immediately operated on when possible.
2) Atresia of the duodenum: Interruption of the small intestine just after the stomach outlet. It is treated surgically.
3) Imperforate Anus: absence of the anus. This malformation may not be immediately visible because temperature is no longer measured in newborns by the rectum but under the arm. It is treated surgically.
4) Hirschsprung’s disease: paralysis of the terminal part of the intestine resulting from the absence of nerve cells in the intestinal wall. Classically it brings about an intestinal occlusion with a dilation of the colon (large intestine); but some partial and more difficult types of diagnosis sometimes require repeated specialised examinations (X-rays, measuring pressure in the rectum, microscopic study of small pieces of the intestine). It is treated surgically.
What are the possible functional problems?
Some functional disorders can be worrying:
1) Deglutition problems: most often it suffices to thicken liquids.Rarely, one must feed the child through a tube, at least partially, for several weeks. A speech therapist specialised in deglutition may be useful.
2) Mastication problems: they are dealt with by a speech therapist and often require physical therapy or selective dental grinding.
3) Gastroesophageal reflux: this may be associated with an anatomical defect leading to surgical treatment.
4) Constipation: often chronic, and sometimes severe, it requires prolonged recourse to laxatives and sometimes enemas in a hospital.
5) Coeliac disease (gluten intolerance) is frequent and rarely is accompanied with chronic diarrhea. The presence of abnormal antibodies in the blood will lead to a gastroscopy of the upper intestine, permitting an intestinal biopsy which is necessary to confirm the diagnosis.
6) Gastritis is frequent, either autoimmune or infectious (infection with Helicobacter pylori). Treatment is based on medications which reduce gastric acidity, and sometimes on antibiotics.
What are possible bone and joint defects?
Hypermobility of joints encourages joint deformations. They must be prevented by motor control physical therapy and good posture habits. There are several possible deformations:
1) Thoracolumbar scoliosis, which is an S deformation of the vertebral column requiring the advice of an orthopedic surgeon.
2) Thoracic kyphosis (hunched back) and lumbar hyperlordosis (excessive bend) are less severe and may sometimes be improved by motor control physical therapy.
3) Progressive distension of the joint cavity of the hips leading to adult spontaneous dislocations of the hips (the hip's ball dislocates out of the joint). The cure is practically impossible, which is why prevention is important, for example by preventing the child from sitting cross-legged.
4) Flat feet are especially frequent. They can become painful and disabling.Pedicures and orthopaedic soles are used to improve comfort.Dislocatable kneecaps sometimes require surgery.
Does hypermobility have specific consequences for Down syndrome?
Hypermobility tends to aggravage defects which are not specific to Down syndrome:
1) Congenital dislocation of the hips must be imperatively and systematically looked for, as with all infants, by aultrasound scanof the hips at 1 month, or an x-ray of the pelvis at 4 months.
2) Osteochondritis of the hips, a disease of the growth of the top of the femurs which can appear between 3 to 10 years, must be considered in case of limping or reticence in walking. You must always seek the advice of an orthopaedic paediatric surgeon because the diagnosis is sometimes delicate.
3) Hallux valgus, a hereditary deformation of the big toes, called "bunions". When the parent has this, half of his children have it. Treatment is most often limited to pedicures and good shoes, because surgergy is indicated for Down syndrome persons only exceptionally.
4) Cervical rachis (neck vertebra) may be subject to an instability of the first two cervical vertebra or an extreme hypermobility. These two defects may lead to a compression of the spinal cord. If the child has a tendency to lean his head to the side, tell a physician about it. All torticollis requires a medical checkup.
Should any particular x-ray be done?
When the child will be about 5 years old, a dynamic x-ray of the vertebral column must be systematically done to ensure that his hypermobility has no consequences on the vertebral column. In case of doubt, the advice of a specialist must be sought and he will decide what is necessary (surgery is sometimes indicated).
What glands can be harmed?
Thyroid problems are frequent. Most often it is hypothyroidism which is an insufficiency in the functioning of the thyroid gland. If not treated this insufficiency leads to various health problems. All normal functioning of the organism is slowed down, which is why the child’s physician must regularly request a thyroid checkup and offer appropriate treatment.
The thyroid gland, located in the neck, manufactures thyroxine (or T4), the main growth hormone in the child. Thyroxine promotes maturation of the skeleton and is necessary for good cerebral development. Its role is also very important later. The thyroid is controlled by the pituitary gland (located in the brain) which secretes the Thyroid Stimulating Hormone (or TSH).
What is hypothyroidism?
Hypothyroidism (insufficiency in the functioning of the thyroid gland) is frequent. It sometimes requires oral administration of a thyroid hormone, L-Thyroxine. Hyperthyroidism (excessive functioning of the thyroid gland) is more rare, but more severe because there is a risk of sudden death from cardiac rhythm problems.
These thyroid defects are often associated with coeliac disease (gluten intolerance). They can also be part of an autoimmune thyroiditis with the presence of anti-thyroid antibodies which can reduce or stimulate the production of thyroid hormones. Treatment is most often with medicine, but sometimes with surgery.
Is there a risk of diabetes?
Diabetes is a bit more frequent than in the general population.
What risks are there for the sexual glands?
The men are usually sterile because of a defect in the structure of their testicles. Testicular cancer is frequent: it is therefore important to monitor the size of the testicles after puberty. The women have a slightly reduced fertility but may have children. Menopause arrives on average four years earlier than in the general population.
What are the risks for the eyes?
1) At birth and during early childhood: cataract (clouding of the lens) and congenital keratoconus (deformation of the cornea); they are rare but serious. Treatment is surgical (an implant in the first case, transplant of a cornea in the second). Strabism can be improved later with corrective lenses and orthoptics. Nystagmus (abnormal pendular movements of the eyes) has no specific treatment. Poor permeability of the tear ducts is frequent. It may require, after one year of age, a tube or surgical installation of a drain.
2) In the older child, one should look for long sightedness and astigmatism. In case of strabism, it is necessary to monitor the quality of binocular vision (both eyes) because the risk of amblyopia (loss of vision in one eye) is real. Recourse to orthoptics and sometimes ocular patches or filtres issometimes necessary. Blepharitis (inflammation of the eyelids) is frequent and is treated locally.
3) In the adolescent myopia may become worse.
4) In the adult, cataracts are practically constant but it is often a so-called punctate cataract, whose worsening is very slow and may not be bothersome. A keratoconus may appear. In both cases treatment, when necessary, is surgical. Down syndrome persons have a heightened sensitivity to atropine; the dose administered during an ophtalmological examination must be reduced.
What treatments for the eyes?
There may be visual problems (cataract, myopia, long sightedness, astigmatism) which require early screening. It is therefore advised to consult an ophthalmologist before 9 months if possible in order to consider appropriate care. Concerning glasses, if your child must wear them, the oculist or optician must choose an appropriate frame so that they stay on the nose (perhaps by bending the arms so they hook well behind the ears).
How to treat visual problems?
A Down syndrome person may have visual problems from his earliest age (cataract, refraction problems like myopia, long sightedness, astigmatism) which require early screening and appropriate care. It is therefore necessary to consult an ophthalmologist from the age of 9 months and before if there is strabism or nystagmus (brief and repeated tremor of the eye which may be a sign of an ocular problem). A regular monitoring once or twice a year should then be put in place.
Many children have refraction problems (myopia, long sightedness, astigmatism) but few wear glasses early on. Effectively, as for any treatment, the expected benefit must be balanced against tolerance of the treatment. Because their nose is short, small children cannot all keep their glasses on. If the visual disability does not evolve too much, the physician may just monitor the vision and not prescribe glasses until the child can really benefit from them.
Cataract (clouding of the lens, which is a type of lens permitting accommodation) is frequent. Sometimes it exists at a very young age. Its presence justifies a regular monitoring. For children surgery is considered only if vision is really affected by the cataract discovered at that age; it is often minimal and evolves slowly. In the adult indications of intervention for the cataract are the same as in the general population.
What are the risks for the skin?
It is often fine and dry. It can be hydrated with non-irritating creams (certain “natural” creams are especially allergenic, such as those with avocado extracts). The children must be well protected from the sun because they have fragile skin (hat, sunglasses, sun cream and clothing).
What additional medical problems are there?
Down syndrome can be accompanied by other defects (digestive, renal, skeletal, neurological, etc) which require a special medical follow-up. Which is why one must be vigilant to reactions which seem unusual (spasms, repetitive behaviour, etc.). You must speak to a physician about them.
What are the risks for the organs?
A supernumerary 21st chromosome is, in the case of free, complete and homogenous trisomy (93% of the cases), present in all cells: it may be expected that all organs are altered by it. In reality, things are more complex for the following reasons:
1) All genes do not express themselves in all organs at all stages of embryonic development and life after birth.
2) The genes of the 21st chromosome function together with those of other chromosomes, which may contribute to modulating their expression and inversely, modulating the expression of other chromosomes.
3) Studies have shown in animals that the environment may influence the expression of certain genes, especially at the level of food and genes regulating weight gain.
What are the risks for the brain?
The best known consequence of Down syndrome is intellectual disability. The brain’s morphology for Down syndrome persons is often very particular. The size of the brain is often a bit smaller than in the general population and in a more rounded form. The cerebellum is of a smaller size.
Epilepsy is more frequent in two stages of life:
1) During the first year of life a very particular form of epilepsy called West syndrome may appear. Crises present as flexion (flexion spasms) or extension (extension spasms) movements of the trunk and may include digestive pain. These abnormal movements may be more discrete, limited to small flexion movements of the fingers or head.
The loss of eye contact with the child should alert those around and lead them to seek advice from a neurologist as soon as possible because the evolution of the condition will depend on early treatment. Parents must therefore immediately call their physician who will contact the persons necessary.
2) From 20 years old, epilepsy again becomes frequent and is often with classic epileptic seizures called “grand mal”. Some persons have early abnormal aging (the causes of which are still not well known). Sleep apnea may contribute to it (respiratory pauses occurring during sleep and possibly bringing about poor oxygenation of the organism).
Is there a particular risk of Alzheimer’s disease?
In aged persons, Alzheimer’s disease seems more frequent than in the general population. At all stages of life, depressive movements may appear, their frequency seeming to be higher than in the general population.
Is there a particular risk of infections?
Down syndrome persons are more sensitive to infections but do not have major deficiencies in their immune systems. Their immune system includes some defects but they do not really alter the defences against infectious agents (viruses, bacteria). These defects are most often responsible for autoimmune diseases, illnesses resulting in the production of abnormal antibodies directed against the organism’s own parts. The most frequent of these illnesses is intolerance to gluten,which must be excluded from food.
How do you explain infections?
The most frequent infections, and especially ENT and respiratory infections are explained by:
1) The existence of gastroesophageal reflux which encourages ear infections, laryngitis, bronchitis and pulmonary infections; its treatment (other than the use of thickened milk for the infant) is based on medications. It is sometimes necessary to operate on the gastroesophageal reflux.
2) Food going down the wrong way as a result of deglutition problems (thickening of liquids and sometimes feeding by a gastric tube).
3) Iron deficiency, sometimes the consequene of gastroesophageal reflux (or esophagitis). The physician prescribes iron-producing medications, to be taken orally.
4) Breathing by the mouth: normally, respiration is nasal which allows the nose to filter, humidify and warm the air coming to the bronchi, which is why it is important to wash the nostrils with sterile saltwater solution and the importance of speech therapy.
5) The delay in learning to walk, knowing that the vertical position reduces the consequences of gastroesophageal reflux and improves the respiratory passages.
Is there a particular risk of cancer?
The distribution of cancers is not the same as in the general population. It is impossible today to know if the observed difference is linked to a difference in genetic constitution or a difference in lifestyle and environment. It is therefore not excluded that the difference in distribution today will be modified in the coming years:
1) Some cancers are more frequent in Down syndrome persons: acute childhood leukemias, testicular cancers (seminoma) after puberty, lymph node cancers (lymphoma) as adults. If acute leukemias are more widespread in the Down syndrome children than in other children, they have a better cure rate.
2) On the other hand, some cancers seem to be more rare: breast cancer in women, prostate cancer in men, brain tumours. Women who have had cases of breast cancer in their families (mother or sister) should nevertheless be subject to regular gynecological check-ups.
Down syndrome persons have a heightened sensitivity to some anticancer medicines, requiring a lowering of doses. Generally, treatment of leukemia requires adaptation of the protocols used for the general population. It is advised to get in touch with hematology services which usually have a long experience in these particularities.
Are there risks of particular complications?
Numerous complications of the disease are the subject of primary prevention which seeks to prevent their appearance. Here are two typical examples: orthopaedic deformations which can be prevented through motor control physical therapy and acquiring good posture habits; and the appearance of amblyopia (loss of vision in one eye), which may be avoided in children with major strabism through orthoptic rehabilitation and appropriate corrective lenses.
In other cases, prevention is secondary, i.e. early screening for defects minimises their consequences: thyroid defect, hearing and visual deficits, gastroesophageal reflux, coeliac disease, instability of the cervical rachis, West syndrome (epilepsy in the first year of life), or sleep apnea (respiratory pauses during sleep).
How to prevent potential behavioural problems?
Educational measures, support and love from the family, psycho motor skills work and, if needed, psychological care may allow one to avoid numerous behavioural problems.
How can I manage this illness?
For the person to develop himself in the best conditions, a specificplan must be built around him and with him. This plan has three aspects: social, medical and rehabilitative.
1) Social care: This depends on the age and development of the patient. The more adapted the school, work and place of residence are to what the person wants to and can do the better they will contribute to his fulfilment.
2) Medical treatment: It is both specific to Down syndrome and depending on added complications.
3) The choice of the type of rehabilitation depends on the patient’s age, his development and needs. It is centred around physical therapy, orthophonics, psychomotricity and ergotherapy. All the types of rehabilitation are not implemented at the same time, and their intensity is adapted to the person’s condition. Be careful about excessive stimulation which may become a factor of stagnationa or even regression, instead of development because these persons tire easily and their capacity for concentration is not inexhaustible. If rehabilitation is not adapted it may become an obstacle to development and fulfilment.
What can we do during breaks in care and rehabilitation?
Sometimes a break can change the routine and allow a fresh start with more enthusiasm. Holidays can be planned for this break. Rehabilitation may be done in existing structures such as the CAMSP (Centre for early medico-social action: consult the website Service-Public.fr:http://vosdroits.service-public.fr/F1868.xhtml) and the SESSAD (Services of special education and home care; consult the website Service-Public.fr:http://vosdroits.service-public.fr/F14984.xhtml), or a private practitioner. Psycho motor skills work is not reimbursed by health insurance.
What do physicians think of alternative medicine?
Alternative medicine may be used in the management of Down syndrome, but as with any care, it must be used wisely. Homeopathy may be used for these children just as for ourselves, but we must watch that the doses are adapted to our child (suppository or liquid). Doses in granular form are strongly discouraged because they are put directly in the mouth and can be swallowed the wrong way. If you must use them they should be dissolved or try to use homeopathy in syrup or suppositories.
What can we expect from medications?
Currently there are no medicines which cure Down syndrome. The medicines available treat the added diseases such as infections, epilepsy, pain, etc. Down syndrome persons are very sensitive to medicine. Often doses smaller than for the general population are prescribed for their treatment. This is the case, for example, for atropine, prescribed by the ophthalmologist just before examining the retina. In the general population several drops are necessary for a proper dilation of the pupil, but in Down syndrome persons one drop is sufficient for the same result. Repeated instillations should be avoided because too strong a dose blurs the vision and long-lasting dilation is disagreeable.
Side effects of medicines are the same as in the general population, but it is important to ensure that prescribed medicine is given in appropriate doses.
Through an understanding of several 21st chromosome genes, some medical teams offer a treatment based on molecules likely to assist cognitive development (i.e. psychomotor development allowing learning). That is the case for folinic acid which is currently under evaluation. Other molecules, such as piracetam, have been tried without conclusive results.
What about surgery?
Surgery is not offered unless it is necessary, such as for example, for a child with a cardiac or digestive malformation. Orthopedic problems are those with the most difficulties. Because of the hypermobility and poor quality of healing, surgical results are disappointing for some orthopaedic defects, such as hallux valgus or patella luxation. Recurrence is frequent. Therefore operations should be done only when indispensable, such as for a major instability of the cervical vertebra, for example.
What about reconstructive surgery? Plastic surgergy?
Reconstructive surgery can be useful following a burn or skin damage. There is no place for plastic surgery (facial to lengthen the nose or ears or bodily to lose weight). Since 1967 these operations are done in some countries but with very mixed results. Effectively, surgeons themselves admit that no positive effect on social or intellectual behaviour of the operated children has been observed. Many of these operations are not beneficial and may well be dangerous. First there is a risk of poor healing (keloids) leading to a negative result. Second, the physical appearance of the child remains nevertheless quite characteristic of his disease. Finally, thought must also be given to the reaction of these children who have undergone several operations for which they do not understand the reason or the result, but who notice that they are not loved for who they are but for what others want them to be.
Acceptance of the child must not be because of his physical beauty, but through discovering his gifts hidden deep within his being.
If my child is already grown, can he benefit from recent research?
If my child is already grown he may benefit immediately from progress in rehabilitation methods, but also from new medical treatments. Whatever his age, improving the functioning of his neurons, for example, can only be of benefit to him.
The fact that the brain of Down syndrome persons does not have major defects allows us to think that their problems are mainly problems of how it works. Such defects are corrected more easily by medication than are anatomical defects. It is illusory to heal everything, but making progress is certainly possible.