Cerebra supports people caring for children with a range of conditions summarised as brain related / neurological (specifically brain injury, neurological disorders, mental disabilities and developmental problems). Because the brain affects every other function, these conditions may affect any and every aspect of a child’s life, and that of their family.

What are these conditions, and how do they arise?

Aetiology (what causes it) - Nature and Nurture

Conditions can have physical, social, biological, genetic, or mixed origins. Some therapeutic, developmental and management techniques take account of the root causes of a particular condition, whereas others are focused on the outcome / symptoms of the condition.

The central nervous system (CNS) consists of the brain and the connecting networks of nerves that go through the spinal cord. These are sheathed by bone. From there the peripheral nervous system goes out to other parts of the body, enabling us to sense, control movement, understand and express.

A child with a brain related / neurological condition could have sustained damage or disorder to a part of this system at one or more stages:

• Preconception
• Foetal/antenatal
• At birth
• The early post-natal period
• Infancy
• Childhood

It is not always possible to say definitely which causes apply in an individual child or when they occurred. If the brain has been damaged, this is described as either ‘congenital’ (present at birth) or ‘acquired’ (occurring after birth). ‘Birth defects’ may or may not involve the brain and/or nervous system.

Other terms that are sometimes used are ‘developmental / neurodevelopmental disorder’ (where the effects of a condition reveal themselves as the child grows); and ‘degenerative disorder’ (where the underlying condition itself gets worse over time). For example, as muscles and tendons tend to contract over the years as a result of cerebral palsy, the condition itself is not changing but only its effects, so this is developmental and not degenerative.

The term ‘developmental’ is also used to mean, straightforwardly, that a condition affects a child’s development. The term ‘developmental delay’ is descriptive of a child who is achieving milestones later than normal in one or more skills, and it may take months or years to clarify why. The effect may or may not turn out to be significant and/or diagnosable more firmly in the long term.

A genetic or chromosome disorder is caused by a DNA abnormality. Genetic / chromosome irregularities in cells can be either inherited or caused by mutations. Mutations are either spontaneous (cause unknown) or owing to damage, e.g. from radiation (possibly even small amounts, in early pregnancy) or toxins. The relationship between DNA, a gene and a chromosome is that the centres of cells (cell nuclei) contain chromosomes; each chromosome contains DNA; and each DNA molecule contains many genes, of different kinds (‘alleles’). Not all genetic and chromosome disorders affect the brain and nervous system, but there are hundreds that do; for example Down Syndrome, Tay-Sachs Disease, Tuberous Sclerosis. These tend to be of a more complex and intrusive nature than many other brain-related conditions. As more is discovered about conditions and genetics, genetic influences / inherited traits are being found in many other conditions that are not (at least, not at the moment) described as being ‘genetic conditions’.

Metabolic disorders are rarely active, usually congenital and genetic, conditions where some of the body’s biochemical processes do not work properly. Many people are carriers without realising it, but when active they can cause very serious illness and not all can as yet be treated. Where it is possible, treatment usually depends on early identification of the exact biochemical process that is going wrong. (There are more than 1,000 types.) They cause a complex of signs

and symptoms including neurological ones. People with metabolic disorders sometimes react differently to infections, and to having eaten too much protein. Examples of metabolic disorders are Leigh’s Disease and Phenylketonuria (PKU).

Toxins from blood-carried bacteria (toxaemia), the environment, air, water, medicine (e.g. anti-cancer drugs), or foods can affect the pregnant / lactating mother or the child; also dietary imbalances such as of Folic Acid (a B vitamin, also inhibited by some drugs).

Placental insufficiency (underdevelopment) can occur with twins / multiple pregnancies, or because of the anatomy / physiology of the placenta, e.g. through emboli (obstructions in blood vessels such as blood clots). There may also be related medical conditions in the baby, for instance any major organ dysfunction could lead to CNS damage.

Infectious diseases such as meningitis sometimes leave neurological after-effects. Diseases in pregnancy, e.g. some cold viruses or German measles, can also affect the baby’s brain.

Living conditions can influence neurological health and development, e.g. lack of stimulation, accidents, psychological problems, worry or fear.

Circumstances of birth such as low birth weight, prematurity, and very short or very long labour, are associated with a higher incidence of neurological problems. Injury during birth, or soon after, may be because of asphyxia (suffocation), hypoxia (lack of oxygen), physical damage to the baby’s head or spine (e.g. with surgical instruments, obstetric manipulation), or ischaemia (diminished supply of blood, especially to the brain, e.g. through a haemorrhage). Birth complications that sometimes result in brain injury include being born with the umbilical cord wrapped once or twice round the baby’s neck. Breech birth, caesarian or abruptio placentae (prematurely separated placenta) cause obstetric difficulties. Foetal distress may involve anoxia (absence of oxygen).

Physical trauma to a child or pregnant mother can result in brain injury.

The causes of Sudden Infant Death Syndrome (cot death) are still

uncertain. Sometimes an infant may not die but may have been lacking oxygen for a critical amount of time.

Anaesthetics/surgery sometimes leads to lack of oxygen to the brain, and can cause damage if this goes on for more than a very short time.

Although great progress has been made in research in recent years, the causes of many individual children’s brain-related disorders are not known.

The basic mechanisms

Injury can cause death of the brain cells and losses to the functions that depend on those parts of the brain.

Maldeveloped networks, like wrong wiring connections, cause abnormal function (system dysfunction).

Neuronal (nerve cell) and motor neurone (nerves conveying impulses between brain, spinal cord and muscle/gland) dysfunction can lead to the death of cells by damage or self-destruction. Disease or genetic influences may make the brain and nervous system more vulnerable.

The brain and nervous system learns / maps in response to stimuli. Plasticity / neuroplasticity / rewiring / cortical remapping is the ability of the brain and nervous system to reorganise itself. This means that it can recover, and compensate for injury, to some extent.

Development of a diagnosis

Sometimes the diagnosis of one of these conditions is fairly obvious to a paediatrician or medical specialist. At other times, signs of it are subtle at first, or the underlying pathway of injury is complex, involving many steps. Emergent mechanisms such as motor control irregularities lead to symptoms that can aid diagnosis. The symptoms form into a recognisably patterned cluster, which can be given a name. This process may take days, weeks, months or years, and along the way medical opinions about the diagnosis may change.

Diagnosis is a specialist activity, and while other professionals and friends may have an opinion, it can only be given by a doctor within the appropriate specialist area, or sometimes by a clinical / neuropsychologist.

It feels uncomfortable to have a ‘label’ and among families and professionals alike, there is often a resistance to it. Where a brain-related / neurological condition has an uncertain diagnosis, is mild, and in practical terms will not be affected whether there is a diagnosis or not, then there is an argument for leaving any ‘labelling’ aside. On the other hand, these conditions can affect children in subtle ways and sometimes it is good to know that there is a reason. Where, of course, diagnosis is linked to particular treatment, service provision or financial assistance, then it is necessary. No matter how severe the condition, most families do not wish to let it dominate, on the bases that the child is not the condition and that an equitable, ordinary life is the best kind.

Being very futuristic it is possible to imagine, instead of the named ‘labels’ we have now, an individual’s condition being defined in terms of precisely what is happening in the cells and its interaction with the rest of function. For now though, for the purposes of diagnosis, all conditions are defined in the World Health Organisation’s International Classification of Diseases, currently in its tenth edition (ICD-10), and in the Diagnostic and Statistical Manual, fourth edition (DSM-IV) which is of American origin. There is also an International Classification of Function (ICF), increasingly being used. Broadly, the categories that include some brain-related / neurological conditions are:

• A80-A89, Viral infections of the CNS (e.g. encephalitis, viral meningitis)
• C69-C72, Malignant neoplasms (i.e. tumours) of eye, brain and other parts of CNS
• E90-E99, Metabolic disorders
• F00-F99, Mental and behavioural disorders (a wide category that includes what are called in the UK ‘learning disability’ / ‘intellectual disability’, ‘ADHD’, ‘autism’/ ‘ASD’, and emotional disorders. With these conditions there are some differences in classification between ICD and DSM.)
• G00-G99, Diseases of the nervous system (e.g. cerebral palsy)
• P00-P96, Certain conditions originating in the perinatal period (e.g. from maternal infections or circumstances during birth)
• Q00-Q07, Congenital malformations, deformations and chromosomal abnormalities; nervous system (e.g. congenital hydrocephalus and cerebral cysts)
• R25-R29, Symptoms and signs involving the nervous and musculoskeletal systems (not elsewhere classified)
• S00-Y98, Injury, toxins and other external causes

An injury to the brain might bring in conditions in other categories as well (for example, visual, speech or hearing difficulties).

Disorders affecting the mother in pregnancy and labour are in O00-O99.

There are also various categories of ‘other’ diseases and ‘abnormal findings’ to accommodate those not specified elsewhere.

Sources

Genetics Home Reference: brain and nervous system. 2008, U.S. National Library of Medicine.

Scottish Neonatal and Paediatric Pharmacists Group, 2005. Introduction to paediatric pharmaceutical care (on metabolic disorders). NHS Scotland.

World Health Organization, International Classification of Diseases, 10th ed. version 2007.

National Institute of Neurological Disorders and Stroke (USA), Disorder Index.