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A chromosome is a structure of DNA and genes that are found in cells of the human body. Humans have 23 pairs of chromosomes giving a total of 46 chromosomes per human cell. Disruptions in the content of a human cell cause genetic conditions called chromosomal disorders. Physiotherapy treatment for chromosomal disorder can help to improve physical development, muscle tone, strength and quality of life.

Mobilisations and stretches of the hip, knee and ankle by a paediatric physiotherapistAbove: Mobilisations and stretches of the hip, knee and ankle by a paediatric physiotherapist

Types of chromosomal disorder

The most common type of chromosomal disorder is Down’s syndrome. This is caused by an extra chromosome and the symptoms include low muscle tone, a stocky build, slanting eyes and mild to moderate learning difficulties.

The second most common chromosomal disorder is Edwards’s syndrome. The features of this condition are clenched hands, overlapping fingers and slow motor and cognitive development.

Other chromosomal disorders are Idic15, Jacobsen syndrome, Klinefelter’s syndrome, Patau syndrome, Turner syndrome, XXX and XYY syndrome.

Cause of chromosome disorder

The chromosomal disorder is caused by an error before or during fertilisation of the egg and sperm cell. It is not known why these errors occur. The error results in the wrong number of chromosomes or small pieces of a chromosome being deleted, duplicated or swapped with another chromosome.

Diagnosis of chromosome disorder

Chromosomal disorders can be diagnosed before or after birth using a blood test and analysing the sample under a microscope.

Symptoms of chromosomal disorder

The symptoms depend upon where the error is on the chromosome or how many there are. Common symptoms include impaired cognitive ability, impaired physical development, decreased muscle tone and strength. Individuals often have impaired development of fine and gross motor skills, facial characteristics and structural heart defects at birth.

Treatment of chromosome disorder

There is no cure for a chromosomal disorder. Once your child is born, they will require therapy from a multi-disciplinary team to learn to manage their symptoms.

Physiotherapy for chromosome disorder

Following specialist physiotherapy assessment, a problem list and treatment plan will be formulated. Treatment will be focused on your child’s main problems and will work towards achieving specific functional short and long-term goals. Goals will be discussed at the initial assessment and will depend upon your child’s stage of development. Physiotherapy treatment for a child with chromosomal disorder may focus on:
  • Positioning and postural re-education during rest and play
  • Mobility – sitting, crawling, standing
  • Transfers – rolling over, the transition from lying to sitting
  • Muscle strengthening
  • Fun and challenging balance and co-ordination activities
  • Fine hand dexterity tasks
  • Reduction of risk of secondary complications
Your child will be assessed carrying out a variety of functional movements such as sitting, rolling, standing and walking. If your child has any difficulty carrying out these tasks your physiotherapist will provide exercises and mobility aids to increase the ease and safety of the task. Fun and challenging exercises will be taught to your child that target weak muscle groups and improve balance and co-ordination. A high standard of treatment using a variety of resources can be provided in the home environment, your child’s school or at one of our clinic locations.

Children with chromosomal disorders significantly benefit from physiotherapy treatment. The benefits of physiotherapy are:
  • Improved ability to move around
  • Improved balance and co-ordination
  • Increased muscle strength
  • Increased hand dexterity
  • Improved posture and alignment
  • Reduced risk of secondary complications
  • Learn how to assist your child’s physical and cognitive development
Training and education can be provided to your child’s carers, relatives or teachers in order to provide holistic care 24 hours a day. Training may be required to demonstrate how to use equipment, how to position your child in specialist seating or how to help your child walk. Your physiotherapist can liaise with all health professionals involved in your child’s care with your consent in order to co-ordinate the multi-agency management of chromosomal disorder.

Why for chromosome disorder

At, we understand the complex clinical symptoms of a chromosomal disorder. Our specialist physiotherapists are able to provide expert treatment to your child in order to achieve optimum function and quality of life.
  • Treatment available immediately
  • Treatment at any stage of your child’s development
  • Specialist neurological physiotherapists
  • Motivated, friendly, caring staff
  • Treatment at home or in the clinic
  • Provision of home exercise program written specifically for your child
  • Access to occupational therapy
  • Access to speech and language therapy
  • Access to podiatry
  • Access to orthotics
Physiotherapy sessions can be held in the comfort of your child’s home, educational establishment or in one of our clinic locations. Treatment sessions from a specialist physiotherapist will significantly improve your child’s physical development, increase confidence and the skills required to lead an active, rewarding life. If you require further information from one of our specialist physiotherapists or to book an appointment on behalf of your child with chromosomal disorder, please contact us now on 0330 088 7800. or alternatively book an appointment online today!

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