The term “neurologic disorder” applies to any condition that is caused by a dysfunction in part of the brain or nervous system, resulting in physical and/or psychological symptoms.
The development of the human brain begins during pregnancy and continues through infancy, childhood and adolescence. Most brain cells are formed before birth but the trillions of connections between these nerve cells (neurons) are not developed until infancy.
The brain is composed of gray matter (neurons and interconnections) and white matter (axons surrounded by a myelin sheath). A motor neuron (above) carries impulses away from the brain.
The brain is self-organizing. It selects information to forward its growth and development. It also adapts to the environment. Experience of the environment through the senses of touch, smell, sight, taste and hearing produces connections in the brain.
All neurologic disorders involve the brain, spinal column or nerves. Symptoms depend on where damage occurs. Areas that control movement, communication, vision, hearing or thinking can be affected.
Neurologic disorders are wide ranging. They have various causes, complications and outcomes. Many result in additional needs requiring life-long management.
Symptoms of neurologic disorders vary. Physical, cognitive (or thinking), emotional and behavioral symptoms may be present, with specific disorders having combinations or clusters of these symptoms. For example, cerebral palsy tends to have more physical symptoms whereas ADHD tends to have greater effects on behavior.
Many neurologic disorders emerge during the early years of development and may be diagnosed at birth. Some are diagnosed later because symptoms only appear when:
A child misses developmental milestones or has developmental difficulties (e.g. autism).
A damaging infection occurs (e.g. meningitis).
An accident causes brain injury (stroke, trauma, hypoxia).
The pediatric neurology service coordinates medical treatment and therapy for children with neurological conditions.
Special interests include:
Metabolic diseases affecting the nervous system
Pediatric sleep disorders
Developmental disorders including autism
Pediatric neuromuscular disorders including muscular dystrophy and congenital myopathies
Neurological complications of other pediatric diseases
A human body cell normally contains 46 (23 pairs) of chromosomes, half inherited from the mother and half from the father.
Genes are responsible for determining characteristics. Changes in genes (called mutations) therefore change characteristics. Some mutations cause abnormalities that are damaging to individuals (for example, cystic fibrosis). Mutations can be passed on to offspring affecting their characteristics.
Changes in chromosomes, whether in number or in structure, have large effects on characteristics because they contain large numbers of genes.
Change in chromosome number
The term monosomy refers to a loss of one chromosome out of a pair (for example, Turner syndrome). In trisomy, an extra chromosome has been gained by a pair (for example, Down syndrome).
Change in chromosome structure
Microdeletions result in a loss of genes (fragments of DNA) from a chromosome. Microduplications occur when genes (fragments of DNA) are gained. Examples of such genetic conditions include cri-du-chat, Prader-Willi, and Angelman syndromes.
Metabolism refers to the chemical processes that occur in the body. Metabolic disorders can cause lasting damage and must be identified as early as possible (for example, through blood or urine tests). Examples of metabolic disorders include phenylketonuria (PKU) and homocystinuria. PKU is an inherited disorder where phenylalanine (present in food) can reach high concentration in blood serum. This causes damage to brain cells and to intellectual ability. Many metabolic disorders are detected at birth as blood samples are sent for ‘universal newborn screening’. In the United States, each state has its own guidelines as to what screening testing is done and not all countries have such screening programs
Congenital ‘defects’ are believed to be the result of complex interactions between genes, environment and behaviors. An example is tuberous sclerosis, a condition where children have growths in regions such as the brain, heart, eyes, skin, kidneys and lungs. They may also experience epilepsy, learning difficulties/impairments and autism.
Acquired Causes (developed after birth)
These are less common than congenital causes of neurologic disorders, and include:
Immune disorder, such as autoimmune encephalitis, can cause emotional challenges, abnormal body movements and seizures. Children with such problems can develop symptoms over several months and the diagnosis is challenging and frequently involves analysis of blood and cerebrospinal fluid.
Encephalitis (inflammation of the brain) can be caused by many types of infection (usually viral). Some children may develop neurologic long-term consequences following encephalitis, including memory problems, behavioral changes, speech impairments, and epilepsy.
Meningitis is caused by a bacterial or viral infection that inflames the meninges (membranes surrounding the brain and spinal cord). The inflammation and swelling can damage the brain and nerves. Complications are more likely following bacterial meningitis than with viral meningitis. Lasting symptoms include hearing impairments, memory difficulties, coordination and balance problems, learning impairments, epilepsy, cerebral palsy, speech impairments, and loss of vision.
Traumatic brain injury
This occurs when trauma to the head results in damage to the brain. There are three main types of traumatic brain injury (TBI):
Closed head injuries – where no damage is visible; these are common in car accidents.
Open wounds – where the brain is exposed and damaged by an object.
Crushing injuries– where the head is crushed and brain damage occurs.