Congenital and Acquired Neuromuscular and Genetic Disorders

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Introduction

The realisation that your child has a congenital or acquired disability can be a daunting and fearful situation. There are many support networks and resources available however which aim to help and assist parents and carers in the development of that child.

Giving birth to a child with such disorders can happen to any mother regardless of age, racial or cultural heritage, socioeconomic status, health or lifestyle. According to the WHO, congenital anomalies or birth defects affect one in every 33 infants every year worldwide and result in approximately 3.2 million birth defect related disabilities every year¹.

What is Congenital and Acquired?

A congenital disorder is one which exists at birth and very often before birth. It also can include those conditions which develop within the first month of birth. Congenital disorders vary widely in causation and abnormalities and can be as a result of genetic or chromosomal abnormalities, infection, birth trauma or the environment the fetus was in whilst in the uterus.

Acquired disorders on the other hand develop after birth and can develop over the course of one’s life.

Resource Aims

Understanding how a disorder affects a child’s future health, abilities and lifestyle requirements is very commonly a priority for parents very soon after the birth of that child. The aim of this wiki resource is to provide guidance and information to parents of children with congenital and acquired neuromuscular and genetic disorders. This resource is not designed to provide and exhaustive list of disorders as there are very many. It will include those disorders which are most commonly found in the UK in terms of rates of incidence.

The authors aim to provide information in layman’s terms without clinical jargon. Where the use of such jargon may occur, small popups with explanations are provided when users hover over the terms.

Learning Outcomes

• Discuss the management strategies for children with congenital and acquired neurological disorders
  
  
• Describe and evaluate the current physical activity guidelines for those with congenital and acquired neurological disorders and the evidence underpinning them
  
  
• Identify support networks and relevant resources for severe and/or long term neurological conditions

Conditions

Cerebal Palsy

Overview

Cerebral Palsley is a general term for chronic NON-PROGRESSIVE neurological conditions that affect your childs ability to move and to maintain posture and balance (Geralis & Ritter 1991). This is due to damage to the areas of the brain that control movement and co-ordination. This damage to the brain can occur before, during or after birth. A child with CP will find they are not able to control some muscles in their body in the normal way.

It is estimated that 1 in 400 babies in the UK have a type of CP. (cerebralpalsy.org.uk)

Every case of cerebral palsy is unique to the individual this is due to the type and timing of injury to the developing brain

Signs & Symptoms

NHS.uk
Usually appear before a child is 3 years old.

These include:

• Muscle stiffness/ deformities
• Floppiness
• Weakness
• Exaggerated reflexes
• Epilepsy
• Uncontrolled movement
• Problems with balance & co-ordination
• Speech, visual, hearing and perceptual problems
• There may be learning difficulties

Classification of CP by limbs affected

• Monoplegic – one limb is affected
• Diplegic/paraplegic- both lower limbs are affected
• Triplegic- 3 limbs are affected
• Hemiplegic- one side of the body affected, same arm as leg
• Tetraplegic/quadriplegic – affects all 4 limbs and the torso. Likely to be some respiratory complications and difficulties eating.

Types of CP

• Spastic – abnormal control of voluntary limb muscles. Muscles are stiff and sometimes permanently contracted. Reflexes may be exaggerated. This is the most common form of CP occurring in 70-80% of people affected. (early support 2012)
• Athetoid/Dyskenetic- slow irregular writhing movements tend to occur at the end of limbs, may also be jerky and quick
• Ataxic - lack of balance or poor ability to perform smooth co-ordinated voluntary movements
• Mixed - does not fit into one category may have different types of movement disorders at the same time.
  

Other terms and language

There are a number of other words you may here to describe CP
These include:
Hypertonia- high muscle tone leading to stiffness
Hypotonia- low muscle tone which leads to floppiness
Dystonia – muscle tone fluctuates between floppy and stiff
Rigidity – Sustained stiffness of limbs
Spasm – involuntary contraction of a muscle
Tremor – rhythmic uncontrolled, repetitive movements
Minimal or mild CP – Little obvious physical impairment but children experience poor coordination and clumsiness. This can be associated with learning difficulties. (Early Support 2012)

Whilst CP is chronic it is manageable. Management will largely depend on the severity of problems. Many people with CP lead independent lives and not everyone will require physiotherapy. If your child is diagnosed with Cerebral Palsy they will likely have a team of people looking after them which will include: Doctors, Nurses, Pharmacists, Occupational Therapists, Dieticians and Physiotherapists.
Physiotherapists play a key role in supporting children and adults with CP (CSP 2014) website.

Physiotherapy management

Physiotherapists’ main aims are to help a child be as mobile and independent as possible. They also help encourage parents and carers to be involved and are happy to give support and advice on managing problems associated with CP.

Physiotherapy can help with stiffness or hypotonia, areas of inactivity, poor control of movement patterns, muscle shortening, contractures and prevention of musculoskeletal deformities. (kids physiotherapy.co.uk)

Physiotherapy treatment may involve stretches, strengthening exercises, facilitation of normal movement patterns, advice on postural management, and ways to clear secretions. Physiotherapists also give advice on aids and equipment which may be useful for sitting, standing, walking and getting children involved in everyday activities.

The Physiotherapist will complete a physical assessment and may also ask questions about the pregnancy and birth and any other relevant information. Treatment is designed to focus on capabilities not limitations. Physiotherapists will create a specific program and set goals with you that are tailored to your child’s needs.

Caring for anyone with CP can be overwhelming and difficult at times. Physical therapy can help the child to overcome or adapt to certain physical difficulties. This can help take some pressure of the parents/carers as the child becomes more independent.

Infant years

Goal setting with family
Feeding and carrying techniques
Symmetry limit abnormal movements, midline play
Encourage development of functional skills & play
Sensory motor development
Respiratory
Through School

Some children benefit from a programme at nursery and school. Community physiotherapists can visit your child during school or nursery. This is important because physiotherapists play an important role in training teachers for managing children with CP. (Mahon & Cusack 2002).

Orthotics

These are external devices which are often required to keep joints working properly in upper and lower limbs. They can help improve walking, decrease contracture and increase endurance. They also help to reduce trips or falls. They are made from a variety of materials with some very fashionable patterns now. They are generally slid or strapped on with Velcro.

Medical and surgical management

There are lots of different medications for CP which can help to reduce symptoms and help with any complications. Drug therapy is used to help control body movements, prevent seizures, relax muscles, and manage pain and many other associated problems.
When choosing which drugs the Consultants or Doctors will consider the benefits and side effects. Doctors will discuss the medications with you answering any questions or concerns you may have. It is often a process of trial and error for which drug will work best because everyone is different. The medications will be regularly monitored.

The most common medications used to treat CP include these categories:

Anticholinergics- For uncontrolled body movements
Anticonvulsants- seizure medication
Antidepressants- depression medication
Antispastic- muscle relaxers
Anti-inflammatories- pain management
Stool softeners

Surgery

Surgery may be used to correct problems with bones and joints or muscles and tendons. This tends to be used if there is pain on moving. This can also help to improve the child’s confidence, posture and ability to cope with everyday life. After surgery an intensive course of physiotherapy will often be required.

An example of a surgery used for children who suffer from severe stiffness in their legs is a SELECTIVE DORSAL RHIZOTOMY. This may only be used after other treatments have failed. It involves cutting some nerves in the spinal column which can help to reduce the stiffness experienced. Extensive physiotherapy will be needed after this type of operation. This will help the child to re-learn how to control their leg muscles.

WHAT can you do?

Educate yourself so you can help prepare you and your child for the future. Part of a physiotherapists job is to educate so don’t be scared to ask questions. Develop support systems, involve family if you can and seek out other parents with children who have CP. Resources are not always easy to find but can make a massive difference. Ask healthcare professionals and other parents or guardians what support and services they use. Try to involve your child in a wide variety of programmes to support their skills and social development. (Canchild 2009).
Whilst your child is important remember to take care of yourself. (Canchild 2009). If you have a partner make time for them and work together raising your child. Be honest about how you feel, it is normal to feel angry, guilty, worried and scared. Ask for help when you need it.

How to your keep your kid active

Keeping active is vitally important for children. Studies have shown that children with various disabling diseases and conditions still benefit from being active. (Damiano 2006) Just because your child has CP doesn’t mean they can’t be active or get involved in sports and recreation programs. Encourage your child and let them try different activities until they find one they enjoy. Try to find solutions to the problems.

Physiotherapists can give you advice and information about special classes or sports specifically for children with CP. This can help your child and you, they will meet other children similar to them and you can speak to parents who are going through similar situations.

Activity can help:

• Improve muscle strength
• Improve endurance
• Improve overall health (for heart and lungs)
• Give them more confidence
• Improve social skills
• Become more independent
  

Staying Active

Playing Sport

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References

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