You may have heard in the news that a Care Pathway is available for people with Down Syndrome in Hull and the East Riding. Details of what this includes and indeed what a care pathway is then please visit the site http://www.hullccg.nhs.uk/downssyndromehull/
By Dr Liz Herrieven - Amy's Mum
Children with Down Syndrome are prone to a number of health problems. The list can seem long, confusing and incredibly scary. Remember, not all children will have all these problems – some children may have none at all.
Illnesses not only impact on a child's health but can also delay their development. Knowing what to watch out for can help you to notice any problems early and therefore get help as soon as possible.
Please click here for the DSMIG Schedule of Health Checks.
The following information is not exhaustive. If you have any concerns please talk to your GP, Paediatrician or Health Visitor. These notes have been written to give an overview of some of the health problems associated with Down Syndrome but they are in no way intended to replace direct medical consultation.
Children with Down Syndrome have a weaker immune system, making them more prone to infection. All types of infection are more common, in particular ear and chest infections, due to their smaller airways. Viral infections are treated with painkillers such as paracetamol or ibuprofen, plenty of drinks and rest. Bacterial infections may need antibiotics. Your GP will be able to tell whether your child is likely to have a viral or bacterial infection. Children with Down Syndrome are more likely than other children to need antibiotics, usually at an earlier stage and for longer.
From personal experience and talking to other parents, our children seem to get poorly more quickly and more dramatically than other children. Remember, you are the expert on your child. You know when something is wrong, so trust your instincts and get help, the earlier the better. This may be your GP, the emergency GP, the Accident and Emergency Department, or if necessary dialling 999.
Some of the danger signs to watch for include:
You can help to prevent infections by making sure your child has all their immunisations. Ask your GP about the flu jab too.
It is common for young children with chest infections to become wheezy, as the airways become more narrowed. This is similar to, but not the same as, what happens in asthma. Your GP or Paediatrician may prescribe an inhaler to use when your child is wheezy. These can be very difficult to use properly, especially on a wriggly, upset child. Please make sure your Doctor or Health Visitor has shown you the right way to use it, or your child may not get the correct dose of the medicine. If your child is snotty or coughing you can also help by raising the head of their cot or bed. Try to avoid decongestant medicines as they can make snot and phlegm thicker and so more difficult to get rid of. This can lead to chest infections. Balms and inhalants are generally ok.
One-third to one-half of babies born with Down Syndrome will have some sort of heart problem at birth. This is because of a problem with the development of the heart. The commonest condition is a hole in the heart. The heart is made up of four chambers, two on the right side and two on the left. The two upper chambers – the right and left atria – are separated by a wall called the atrial septum. The two lower, larger chambers – the right and left ventricles – are separated by the ventricular septum. A hole in the heart may affect both septa (AVSD, or atrio-ventricular septal defect) or one septum (either an ASD – atrial septal defect or a VSD – ventricular septal defect). Further heart conditions, again related to problems with the development of the heart, include Patent Ductus Arteriosus (where a part of the foetal circulation which should close shortly after birth, fails to do so) and Tetralogy of Fallot (a complex defect).
Some of these heart defects will require surgery. This may be open heart surgery or key-hole surgery (through a big blood vessel in the groin). Some defects will mean that the child needs medication. Some will cause no problems and some will heal as the child grows.
Because heart problems are so common in children with Down Syndrome, all babies are examined at birth by a Paediatrician, who should also arrange an ultrasound scan of the heart (echocardiogram). Some children will also require an ECG (a recording of the electrical currents in the heart) and an x-ray of the chest. The vast majority of heart defects are picked up this way.
In the rare cases where the defect is not found at birth, then it usually does not cause problems straight away, but in the first few weeks when the infant circulatory system has taken over from the foetal circulatory system and the baby is becoming more active. You may notice your baby having trouble feeding. They may get very tired, sweaty and short of breath and may even change colour – they may become a dusky blue colour, especially around the lips and on the finger-nails. They may not put on much weight. Seek help from your Doctor as soon as you notice any problems.
Children with Down Syndrome are prone to constipation. You may notice that your child rarely opens their bowels and may have to strain and get very upset when they do so. Alternatively you may notice that your child passes small amounts of stool very frequently.
The commonest reasons for constipation are inadequate diet and a slow-moving gut. You can help by ensuring your child has plenty to drink and eats plenty of fruit and vegetables. If this does not help, your GP or Paediatrician may prescribe laxatives, either to soften the stool or increase gut motility.
Rarely, constipation may be caused by an underactive thyroid gland or a condition called Hirschsprung's disease. This is where the nervous system of the gut has not developed properly and so the gut does not move faeces along it as normal. It is more common in children with Down Syndrome than in other children. If constipation is severe, your Doctor may arrange tests for this.
Gastro-oesophageal reflux is also more common in children with Down Syndrome. It occurs when food and drink in the stomach are pushed back up into the gullet (oesophagus). Usually the muscles in the wall of the gullet and stomach ensure that food and drink only move in one direction. In some cases, including Down Syndrome, the muscles are not strong enough and things can move back the wrong way. This happens more often after meals and when your child is laid down. You may notice vomiting, pain, arching of the back and/or spells of coughing or choking.
Your GP or Paediatrician may prescribe medication to neutralise stomach acid and to help the stomach muscles work more effectively. Babies may be prescribed special milk feeds which are thicker than usual to help them stay in the stomach.
You can help by raising the head of your child's cot and by not putting your child down straight after a feed.
Reflux often improves as children grow and their digestive system becomes more efficient.
The thyroid gland, which sits in the front of the neck, controls the body's metabolic rate. In hypothyroidism the thyroid gland does not produce enough thyroid hormone (thyroxine) so the body's metabolism is slowed.
You may notice weight gain, tiredness, dry skin and hair, constipation, confusion, memory problems and intolerance of cold.
10-20% of people with Down Syndrome are affected by hypothyroidism, which is more common as you get older. The good news is it is treatable with hormone supplements.
Babies are tested with a heel-prick test at birth. Then at age 1, and every 2 years throughout life, your Paediatrician or GP will carry out a blood test (thyroid function test). Speak to them if your child is due their test, or if you notice any of the symptoms above.
Over 50% of children and adults with Down Syndrome will have a hearing problem. This varies from mild to severe. It may be a conductive hearing problem or a sensori-neural problem.
A conductive hearing loss occurs when sound does not reach the inner ear. This can be because children with Down Syndrome have narrower ear canals than other children, making them more prone to wax, ear infections and glue ear. Glue ear is caused by a build-up of thick secretions in the middle ear, stopping sound reaching the inner ear.
Conductive hearing loss is usually temporary but may recur. Your GP, Paediatrician or Ear, Nose and Throat Consultant may arrange for your child to have wax removed or may start antibiotics for ear infections. Antibiotics or decongestants may be suggested for glue ear but any benefit is usually temporary. Grommets may also be suggested by your ENT surgeon. These are small tubes placed in the ear drum under general anaesthetic, to help ventilate the middle ear. This operation in often more difficult in children with Down Syndrome because of their narrow ear canals. The �glue� is often thicker in our children too, meaning that the grommets become blocked more often. Grommets usually fall out of the ear drum after 6-8 months.
Because grommets are not always successful, many ENT surgeons and hearing specialists now recommend hearing aids instead. Make sure your specialist gives you plenty of information so you can make the decision with them.
Hearing aids amplify sounds (make them louder). Digital hearing aids can be tuned to match the exact hearing loss of your child. They can be fitted as early as the first year of life. Children may take a while to get used to wearing hearing aids. This can be a very frustrating time but it is worth persisting. Get in touch with the Downright Special Network or the Down Syndrome Association for tips and advice.
Sensori-neural hearing loss is caused by problems with the cochlea (which receives the sound waves) and/or the auditory nerve (which sends signals from the ear to the brain). This is a permanent hearing loss and is treated with hearing aids.
Speech and language therapy and the use of signing are also very important in the management of any degree of hearing loss. You can help too by reducing background noise – for example turning off the television. Keep eye contact when you speak and remember to speak clearly. Make sure that staff at nursery or school are aware. They may sit your child at the front of class so they can hear better.
Hearing problems significantly affect development. Speech and language become much more difficult if you cannot hear the sounds and words around you. Therefore any hearing loss must be picked up quickly so it can be treated.
Babies are tested shortly after birth and a more thorough assessment should take place at 6-10 months of age. Your child should then have a hearing test at least once a year (preferably more often) until they are 5. Reviews are then recommended every 2 years throughout life, or more often if there are problems (according to the Down Syndrome Medical Interest Group).
You can help by watching for hearing problems at home. For example your child may not react to sounds, may not respond when being spoken to or may need the TV turned up louder. You may notice an increase in behavioural problems or problems with learning or understanding. If you have any worries, tell your GP, Paediatrician, Audiologist (hearing specialist) or Health Visitor.
Eye problems are very common in children and adults with Down Syndrome – over 90% will have some sort of problem. Short-sightedness (having trouble seeing in the distance) and long-sightedness (trouble seeing close-up) are both very common and can be corrected with glasses or contact lenses, as can astigmatism (where the surface of the eye is irregular).
You may notice that your child has trouble seeing things clearly and may screw their eyes up and complain of headaches. You may notice them sitting even closer to the television! Make sure that their teacher is aware of the problem, so they can sit them at the front of the class if necessary.
Squinting is also a common problem in children with Down Syndrome. This is when the eyes are each looking in different directions. It may be constant or may come and go. One eye takes over the vision and the other eye becomes a �lazy eye�. The vision in the lazy eye deteriorates if the squint is not corrected. Your specialist may recommend glasses, patches or surgery.
Cataracts are more common in people with Down Syndrome too. A cataract is a clouding of the lens of the eye. It may be present at birth (congenital cataract) or may develop later in life, and is corrected by surgery.
Nystagmus affects about 10% of children with Down Syndrome. The eyes flicker from side to side, often more so when the child is looking sideways. You may notice that your child holds their head in a certain position when focusing on things and they may need to hold books very close to their face.
The tear ducts are smaller than usual in children with Down Syndrome and so are prone to becoming blocked. You may notice that your child often has watery or sticky eyes. Bathing the eyes twice a day in cooled, previously boiled water can help. If the eyes become red and itchy with swollen lids and a yellow or green discharge then they have become infected (conjunctivitis) and may need antibiotic ointment or drops.
Blepharitis is another condition caused by blocked tear ducts. The area of the eyelids around the lashes becomes red and the lashes themselves appear flaky. Adding a couple of drops of baby shampoo to a cup of cooled, boiled water and bathing the eyes regularly can help.
The tear ducts become less likely to get blocked as the child gets bigger. If it remains a problem a specialist may unblock the duct with a probe and syringe.
Visual learning is a particular strength in Down Syndrome, so any sight problems must be addressed as soon as possible. Talk to your GP or Health Visitor if you have any worries.
Congenital cataract is looked for in every child at birth. Your child should then have a thorough assessment by a specialist at about 18 months of age. If there are no problems then they should have an eye test every 2 years from the age of 4.
This is very uncommon but can be very serious. At the top of the neck there are two bones – the atlas and the axis. These fit together and connect the spine to the skull, helping the head and neck to move in all directions. In a small minority of children with Down Syndrome these bones do not fit together properly. This may be because one or both of the bones are the wrong size or because the ligaments holding the bones together are too floppy. If the bones do not fit together properly then there can be excessive movement at the atlanto-axial joint and a risk that the joint will dislocate (the bones coming apart completely). This can cause problems because the spinal cord which carries messages between the brain and the rest of the body, helping us to move and to feel sensations, runs next to the atlanto-axial joint and so can become damaged.
Damage can occur in two ways. There may be gradual increased pressure on the spinal cord, causing weakness and unsteadiness, or there may be sudden dislocation causing paralysis. Please remember both of these are very rare.
There are no tests to predict which children will have problems with the atlanto-axial joint. X-rays are not helpful as they only show a static, two-dimensional image of a mobile, three-dimensional joint. Your Paediatrician should check for signs of spinal cord compression during your child�s review appointments. You can also watch out at home for signs of neck pain, problems with neck movement, weakness or unsteadiness, new difficulties in walking or new problems with bladder or bowel function. Tell your GP or Paediatrician urgently if you notice any of these things.
There has been some debate in the past about whether children with Down Syndrome should be stopped from doing certain sports in case they were to injure their neck. The current advice from the Down Syndrome Medical Interest Group is that the only sports to avoid are intensive trampoling, intensive horse riding and high diving.
Leukaemia is more common in children with Down Syndrome, affecting one in a hundred children. Most of these cases occur between the ages of 2 and 4. The onset is usually fairly fast (over a period of weeks). The child may be pale, tired and irritable. They may have a fever and start to bruise or bleed more easily. They may complain of aches and pains in their bones or may start to limp.
Please remember this is still relatively rare. See your GP if you have any concerns, who should arrange urgent blood tests if they think leukaemia is a possibility. Treatment may involve chemotherapy and bone marrow transplant and response is usually good.
Physiotherapists specialise in the development of motor skills, such as posture and movement. Children with Down Syndrome have delayed motor skills, due in part to the fact that they have low muscle tone. Your child may need a Physiotherapist to help from an early stage with things such as learning to hold their head up, roll and to sit with support. They may also need help later with learning to stand and walk. Every child is different and the level of input needed is different. You may see your Physiotherapist monthly or even weekly.
Speaking to other parents there seems to be no set time or criteria for referral to a Physiotherapist so if you feel your child needs help then it may be up to you to ask for it. Your GP or Paediatrician can refer you to a Physio, either based in hospital or in the community at a local clinic.
Speech and language therapists are not just for teaching your child to talk. From an early age SALT input can help to prepare your child for learning to talk, for example by exercising the facial muscles. They can also give valuable advice about feeding problems. It is never too early to be referred to a Speech Therapist – talk to your Health Visitor, Doctor or Portage worker.
Occupational therapists specialise in helping your child carry out the activities of daily living, such as feeding, bathing, sitting and writing. They will assess the movements and posture of your child and may suggest special exercises or equipment, such as cutlery, cups and chairs. Different children will need different levels of help from an OT at different ages. If your child has not yet been assessed speak to your Health Visitor.
This review of health problems in children with Down Syndrome is not exhaustive. If you have any suggestions for further topics please let us know.
You can get more information from the following websites:
Down Syndrome Awareness Week is 18th-24th March 2019. Find out about our celebrations and how you can get involved by having a look here.
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