Duchenne muscular dystrophy

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What is muscular dystrophy? How does it affect children and what can schools do to help

Duchenne muscular dystrophy (usually referred to as DMD or Duchenne) is a serious and progressive muscle wasting condition affecting approximately one in 3,500 boys. In cases where there is no family history, a boy is usually diagnosed between the ages of two and five years old when parents or professionals notice that he is late in walking, has a waddling gait or appears unable to run or jump. While some boys are high academic achievers, Duchenne can be associated with significant learning difficulties, and, in about two thirds of cases, there is a slightly reduced IQ. Delayed speech and language development is sometimes a trigger for further investigation leading to a diagnosis of Duchenne.

In most cases, Duchenne is carried by a mother on her X chromosome and passed to her son, but it may also occur as a spontaneous mutation in the child. Because of the pattern of inheritance, Duchenne only rarely affects girls and, even where a mother is a carrier, she is often unaware of this fact before her son is diagnosed.

How does Duchenne progress?
Although the rate of progression may vary between children, and may be slowed in childhood by the use of steroids, the pattern of weakness is the same, with the proximal muscles, especially those in the legs, being affected first. Boys typically lose the ability to walk during their primary school years and many enter secondary school using a powered indoor/outdoor wheelchair for their independent mobility. There is progressive loss of upper arm strength, making it difficult for children to raise their arms.

Once a wheelchair is being used, curvature of the spine (scoliosis) becomes a concern and many children will require spinal surgery. The heart is a muscle and cardiomyopathy is common, although boys are not usually troubled by this and medication is now available to help maintain healthy function. For most boys, weakness of respiratory muscles becomes a concern in the teenage years. Chest infections are the main risk to life and early antibiotics are required. The use of non-invasive night time ventilation (delivered via a facial mask while the person sleeps) has, in recent years, greatly increased life expectancy from the late teens to the late twenties and well beyond. Promising research into treatments is currently being undertaken.

What can be done to help?

Management of Duchenne currently includes physiotherapy/exercise programmes undertaken on a daily basis, often in school, and the use of night splints to help maintain a good stretch at the ankle, avoiding tightness leading to toe walking. Once walking has become very limited, long leg callipers may be used to help maintain walking ability for longer. Attention to postural needs, good seating, especially in a powered wheelchair, and, where appropriate, the use of a standing frame, is important.

Steroids are now commonly used, as there is evidence that they help maintain muscle strength and have beneficial affects on heart and lung function. The side effects of steroids can be troublesome, with boys displaying more challenging behaviour whilst on them. Weight gain and lowered immunity can also be a concern. At a later date, usually in the teenage years but sometimes earlier, the interventions mentioned above to help maintain good heart and lung function are used. Whilst spinal surgery has many postural benefits, it does mean the spine is fixed and, because a child has often lost the ability to raise their arms, they may now lose the ability to do certain tasks which involve bending forward, for example raising food to the mouth.

In school: physical needs
Advance planning is essential to ensure the environment is accessible and physical needs can be met. Occupational therapists should be involved and risk assessments will need to be undertaken.

At the age of four or five most children with Duchenne are physically active, but they may fall more than their peers and struggle to get to standing. Inclusion in PE and games is encouraged, although they will tire quickly and sensitive acknowledgement of increasing physical limitations is required. A differentiated physical education programme will eventually become essential, with activities like swimming and wheelchair football being popular. As time goes by, increasing amounts of one to one care support will be needed, including assistance with dressing, toileting and eating. Extra time for exams should be allowed and arrangements made for alternative methods of recording (use of a laptop or a scribe).

In school: support for learning

Many children with Duchenne are academically able and go on to obtain degrees and post-graduate qualifications. Children with Duchenne are usually educated in a mainstream school, especially during the primary school years, although those with significant difficulties with learning and behaviour often benefit from a special school environment.

The learning difficulties that can be associated with Duchenne are non-progressive. There is a recognised cognitive profile that is characteristic. Boys tend to be weak in comprehending complex verbal information and have difficulties with reading and expressing themselves on paper (as a child with dyslexia may), but are more able in visual perception skills, problem solving and abstract thinking. Early, specialist assessment is vital. Children with Duchenne are often talented artists.

With the increasing life expectancy of children with Duchenne, it is essential that school life prepares the child for a productive and satisfying life as an adult.

Case study: Ryan Duval
Nine-year-old Ryan Duval lives with his parents, sister and unaffected twin brother. He has Duchenne and has recently transferred from a mainstream school to The Avenue, a special day school in Reading. The move has been a huge success for Ryan and his family. Ryan now has the more intensive support he requires to help him progress academically and benefits from the expertise and experience of the on site physiotherapy and occupational therapy teams. Specialised seating and a manual wheelchair have quickly been organised for him. Mother Rachal Duval feels that both Ryan and his twin benefit from being in different schools, where their individual personalities can develop. One issue to address in this type of situation is the need to explain to the child transferring why his new classmates have a range of special needs. It is important to work with his parents to ensure he has an understanding of his own situation and what can be done to help him. This should help alleviate any anxiety he may feel in such different surroundings.

Further information
Jane Stein is Regional Care Advisor (Oxford) at the Muscular Dystrophy Campaign.

The Muscular Dystrophy Campaign provides free information and support to families affected by muscular dystrophy. It offers a wide range of literature available free of charge, including a guide for schools and specific booklets for families who have a child with Duchenne. It also runs a network for schools and a freephone information line.

Call: 0800 652 6352
or visit: www.muscular-dystrophy.org

Jane Stein
Author: Jane Stein

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