Characteristics of MPS III

MPS III is a disorder largely characterised by neurological deterioration. Although babies with MPS III usually appear normal at birth, over time characteristic symptoms begin to appear such as:

• Behavioural problems
• Sleep disturbance
• Loss of skills such as speech and learning
• Frequent respiratory infections
• Mental retardation in the severe forms
• Bone deformities and joint stiffness
• Epilepsy

Sanfilippo children grow to a fairly normal height and changes in appearance may be less than in other MPS diseases. The hair is thick and coarser than usual and their bodies may be hairier than normal. The eyebrows are often dark and bushy and may meet in the middle. Noses tend to be upturned and flat on the bridge.

The disorder will affect children differently and its progress will be much faster in some cases than in others. Change will usually be very gradual and therefore easier to adjust to. 

The disorder tends to have three main stages.

The first, during the child's pre-school years may be a very frustrating one for the parents. They begin to worry as their child starts to lag behind their friend's children in development and they may feel they are being blamed for the child's overactive and difficult behaviour.

The diagnosis is often made very late as some children do not look abnormal and their symptoms are among the most common seen in all children. The doctor has to be perceptive enough to recognise that something serious is wrong and to ask for urine and blood tests to help reach a diagnosis. It is not unusual for families to have one or more affected children before the diagnosis is established. The second phase of the disorder is characterised by extremely active, restless and often very difficult behaviour. Some children sleep very little at night. Many will be into everything. Many like to chew - hands, clothes or anything they can get hold of.

Sadly, language and understanding will gradually be lost and parents may find it hard not being able to have a conversation with their child. Many will find other ways of communicating. Some children never become toilet trained and those who do will eventually lose the ability.

In the third phase of the disorder children with Sanfilippo Syndrome begin to slow down. They become unsteady on their feet, tending to fall frequently as they walk or run. Eventually they lose the ability to walk. Life may be more peaceful in some ways, but parents will need help with the physically tiring task of caring for an immobile child or teenager.

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