MPS III children may be overactive, strong, usually cheerful and affectionate but hard work to look after. They usually have limited powers of concentration and less understanding than you would expect for their age and physical development. They could, for example, lock the bathroom door but be unable to understand how to get out again, even when told. They enjoy rough and tumble play, making a lot of noise and throwing toys rather than playing with them. They may be unaware of danger, stubborn, and unresponsive to discipline as they cannot understand what is required. Some may have outbursts of aggressive behaviour. As the disorder progresses, they become hyperactive, restless and their behaviour is often very difficult to manage. Toilet training may be achieved briefly but most will remain in nappies.
Initially, they may be able to learn although it will be more difficult for them than children without similar problems. Their rate of learning will slow: this may be apparent by 2-3 years of age or it may occur significantly later – the pattern is varied. Their ability to talk and communicate will also gradually be lost (talking may initially be delayed due to deafness). They will become more unsteady on their feet, and tend to fall frequently as they walk or run; eventually the ability to walk will be lost.
This gradual decline is very upsetting to family and friends but it is important to know that even when the child starts to lose skills they have learned there may be some surprising abilities left. Children will continue to find enjoyment in life even if they lose the ability to speak.
The difficult behaviour is generally not altered by behavioural therapy. Medications can sometimes help but will usually require regular medical review to help maintain effectiveness. Some parents have tried to modify behaviour with the support of a psychologist and a few have reported some limited success. However, behaviour will continue to change as the disorder progresses, and the usefulness of a particular behaviour modification technique may be short-lived.
It may be helpful for the child to join a play group or attend a school or after-school program where a variety of activities can occupy them. Ideally, there should be space to run around in and keep fit for as long as possible. Many children are calmed by the movement of a car and will travel well.
A balanced diet is important for health and well-being. There is no scientific evidence that a particular diet has any helpful effect in MPS III, and problems such as diarrhoea tend to come and go naturally. A change in diet may ease problems such as production of excessive mucus, diarrhoea or hyperactivity; reducing intake of milk, dairy products and sugar, as well as avoiding foods with too many additives and colouring have sometimes helped. It is advisable to consult your doctor or a dietician if major dietary changes are planned to ensure that essential nutrients are not left out. If the problems are eased, foods can be reintroduced one at a time to test whether any particular item seems to increase symptoms.
It is important to note that no diet can prevent the storage of mucopolysaccharides because they are made by the body. Reducing sugar intake or other dietary components does not reduce this storage.
Feeding and Swallowing
In the early stages of the disorder, feeding usually causes few problems. As it progresses, however, the ability to chew food and swallow is gradually lost. Foods may need to be mashed or pureed to an appropriate consistency; it is advisable to avoid mixing ‘lumpy’ foods with food of a smooth texture; meat may be tolerated more easily if it is made by slow cooking rather than just chopped into small pieces. Many become quite picky and may reject foods for no clear reason.
As the rhythm of swallowing is lost, spluttering and coughing whilst eating may become a problem. Moving your hand gently backward under their chin and slowly down the throat can help move the tongue and encourage swallowing. As the ability to swallow worsens, food or liquids may enter the lungs, which can result in recurrent pneumonia. During this time they may lose weight and require more time to be fed.
It is often difficult for a family to consider alternate means of feeding, such as through a naso-gastric (N/G) tube or a gastrostomy (G) tube. Talking with your doctor can help with your decision making.
When a person cannot chew and has difficulty swallowing, there is a risk of choking. Choking is frightening and reassurance can be provided by rubbing their back and holding their hands. If choking occurs, they should quickly be turned upside down or placed head-down over your knee, followed by three or four sharp pounds between the shoulders. If necessary, you may need to put your finger down their throat to try to dislodge the food item. Pounding on the back while they are sitting upright can make things worse because they might breathe in the food rather than coughing it out.
Choking can also occur with liquids, including secretions made by the body such as saliva. As swallowing becomes more difficult, drooling may become a problem and may require suctioning. Medication may sometimes be used to reduce the production of saliva and should be discussed with your doctor. If fever develops within a day or so of a choking episode, consult your doctor. It is possible that some food particles have entered the lungs and pneumonia may have developed.
Restlessness at night is common and many children do not sleep for more than a couple of hours at a time. The reason for this is not known. Medications may sometimes help but it may take a period of trial and error to establish which drug works best. Drugs often lose their effect after a while. Some parents choose to ration the use of medications to a few nights a week or accept that after a few weeks it may have to be discontinued for a while.
The thought of the child getting up in the middle of the night and having an accident while the rest of the household is asleep worries many parents. Some find it helpful to put a lock on the outside of the child’s bedroom door, to replace the bedroom door with a Dutch door and lock the bottom section, to fit a stair gate in the doorway, or to place special pads under the carpet by the door which cause a bell to ring if the child leaves their room. Removing furniture and placing only a mattress on the floor helps prevent falls or injury in the night. Some parents find that special beds that help contain the child may be effective.
It is vital for parents to get sleep if they are to cope during the day. Some parents find they can achieve a longer period of unbroken sleep by putting the child to bed later and following a regular routine.
In its later stage, frequent, minor seizures (known as petit mal) may occur, during which the ability to focus and concentrate is momentarily lost. More generalised seizures (known as grand mal) may also occur. During a seizure they should be placed on their side to prevent the inhalation of vomit and left in that position until the seizure is over. The airway should be checked to make sure it is clear; nothing should be put in their mouth. Seizures can usually be managed with conventional anti-seizure medications: it is not unusual to try several before finding what works best. It may be necessary to consider a helmet or other protective head-wear to prevent head injury if seizures are frequent or difficult to control.
When the child is young and mobile, physical therapy may not be needed. Chest physiotherapy may be needed later to help clear infection.
As the child becomes older, the joints of the feet and ankles may become tight and less flexible. Hydrotherapy may help to keep the joints mobile. Some range-of-motion physical therapy may be useful but need not be intensive. Exercises that cause pain should be avoided. Even when immobile, it is important that proper support is provided whilst sitting to avoid uneven pressure on particular joints. Special braces may help if a problem at the ankle joint develops and makes walking difficult.
Generally, anaesthesia causes fewer problems in MPS III than in other MPS disorders.
However, because the airway may be narrower than usual, insertion of a very small breathing tube may be required for surgery. Placing the tube (intubation) may prove difficult. In addition, the neck may be somewhat lax and repositioning it during anaesthesia or intubation could injure the spinal cord. In some cases it may be difficult to remove the breathing tube after surgery due to swelling that may have occurred and it may need to be left in place.
In view of the anaesthetic risks it is recommended that all surgery (including elective surgery) is performed at a specialist medical centre rather than a local hospital, with anaesthetists who are experienced in managing difficult airways.
It is highly recommended that teachers and caregivers are informed of the anaesthetic risks in case of emergency.
There is a more detailed explanation of this subject in the specialist anaesthetic booklet published by the MPS Society.
As they become more out of touch with their environment, behaviours such as chewing fingers, clothes or other items may develop. Because there is little one can do to stop this, it is best to provide a wide range of safe items on which to chew, such as rubber toys, teething rings or soft cloths. If the problem is severe and they start to injure their fingers, the elbows may need to be splinted for periods of the day so the hands cannot reach the mouth.
Some children may benefit from attending a mainstream school in their primary school years and enjoying the social interaction with peers; a majority will equally benefit from a Special Educational Needs placement with small class sizes and a range of communication systems in place. Many will need the help of a classroom assistant. Behaviour problems may, however, limit or prevent school attendance.
Adapting the house
Mobility is likely to become progressively worse and dependence on parents and carers to meet everyday needs will likely increase in areas of incontinence, personal hygiene and nutrition. It is important to give early thought to how this can be managed when weight bearing and walking or climbing the stairs is no longer possible.
Parents have found it helpful to designate a room or part of a room for their affected child. If possible, the area should be within hearing and visual distance and be made safe for the child to play without constant supervision, so the parent can interact with other children or deal with household tasks.
The Quieter Stage
The change from the hyperactive, noisy period to a quieter period is likely to be gradual. Families will realise that their child no longer runs everywhere and is happier sitting than standing; many will be easily pleased, perhaps by looking through the same little book of photographs, having stories read or watching the same video many times over; frequent dozing is not uncommon.
Weight will be lost gradually as muscles weaken and chest infections may become more frequent. Many die peacefully after an infection or from the heart’s gradual failure. Family and friends may find it helpful to prepare for the time of death. It is not possible to say how long this ‘quiet’ period will last.
Taking a break
Caring for someone with progressive disability is physically and emotionally tiring. Parents will need regular breaks so they can continue providing care without becoming exhausted; brothers and sisters also need to have their share of attention and to be taken on outings that may not be feasible with an affected child.
Palliative care is any form of medical care or treatment that concentrates on reducing the severity of disease symptoms. The goal is to prevent and relieve suffering and to improve quality of life for people facing serious, complex illness and that of their family. This may include respite care, symptom management and bereavement support and may extend over a period of time. It is important to talk with your medical team to ensure you are aware of and have access to the various services and support networks that are available.
Enjoying your child
A child with MPS III will have a life that is different from the majority of others but they have delightful personalities and are extremely lovable. They will give you love that is totally unconditional. They will make you laugh when you think you may never laugh again. Their love is infectious to everyone around them. They communicate with you even when they lose their verbal skills. Their eyes will beguile you, their smiles will entice you and their spirit will raise yours when you think nothing else can.
The majority of people with MPS III are likely to develop rapidly progressive symptoms. Whist brain function will be affected in all people with MPS III, in some cases symptoms may develop more slowly or later in life. The following information may therefore be relevant in those cases.
At the present time there has been no research carried out that explores the psychosocial development of people who have more slowly progressive or later-onset MPS III.
However, it is important to consider how the additional challenges in life may be experienced. People with later-onset or less severe MPS III can adapt socially and emotionally in different ways to new challenges or problems. The adolescent and teenage years may be more difficult because of all the physical and psychological changes that occur, whilst also having to cope with the problems caused by the disorder itself. Mental health is an important issue and it is therefore vital that steps are taken for an appropriate psychology referral as part of a comprehensive, on-going package of support.
Siblings also need to be considered. No formal studies have been carried out to assess the psychosocial effects of MPS III in siblings. It is not uncommon for unaffected siblings to feel somewhat neglected or less important in the family unit as the greater share of attention is placed on the needs of the affected person. Parents may need to monitor the broader impact of the disorder on siblings and seek medical or psychological help if necessary.
Academic achievement is possible. To reach their full academic potential it is important that the education authority and school are aware of resources that may be required: this may include a one-to-one classroom assistant, appropriate classroom furniture and access to an individual computer, hearing or visual aids and extra time to complete tasks that may not seem difficult but which may require more effort to complete due to the intellectual and physical problems associated with the disorder.
Developing the necessary skills to lead an independent adult life can be very difficult and is uncommon in MPS III. However, if independence is possible it should be encouraged but with provision for appropriate support as the condition progresses.
The disabilities caused by the disorder should not prevent access to meaningful employment. There is considerable responsibility on the part of employers under the Disability Discrimination Act to meet the needs of employees with a disability..