Chiarimalformation Seizures

In patients with Chiari malformation type 1 (CMI), epileptic seizures are occasionally reported both in symptomatic patients candidate to surgery and in patients without symptoms of tonsillar displacement in whom CM1 is often an incidental finding in the diagnostic work up for idiopathic epilepsies. In both groups of patients, the course of epilepsy is almost invariably favorable, with a few seizures easily controlled by treatment. In a subset of CM1 patients, epilepsy occurs in the context of neurodevelopmental disorders that also include mental retardation, autism and somatic dysmorphisms. Epileptic seizures must be accurately differentiated by potentially harmful paroxysmal events due to compression of the medulla, particularly by the cerebellar fits characterized by drop attacks, abnormal extensor posturing and apnea.

Carer’s and Autism

Support for carers of people with autism

A carers’ assessment is the vital first step in a carer accessing the support they need, yet too few carers of people with autism have received one.[13] Under the Care Act 2014, carers are given equal status in relation to eligibility for assessment of support needs. A diagnosis of any form of autism should act as a trigger to offer a carers’ assessment to all those supporting the diagnosed individual.

Carers’ assessments can be offered even if the person with autism has refused an assessment for themselves. If a carer refuses an assessment when offered, they are able to ask for this at a later date.[15] This also applies if a diagnosis of autism has been received at an earlier date, and assessment found no eligibility for social care support. In Northern Ireland, carers who provide a substantial amount of care on a regular basis for someone with autism have the right to a needs assessment when requested. These rights and duties are set out in the Carers and Direct Payments Act (NI) 2002.

The concern that some parents and carers feel about their family members’ move towards independence can be lessened by the presence of supportive and skilled professionals, who must:

  • listen, and take on board the experiences that family members have [13]
  • recognise the incredibly in-depth, detailed knowledge that carers have and that this is not limited to parents – siblings and partners figure here as well [137584]
  • understand the love and sheer investment of emotion and time over many, many years that most carers bring to any discussion about the person with autism [48]
  • empathise with the likelihood that carers may be drained from battles fought over the years, and may display a cynicism about the ability or willingness of professionals to help
  • respect the different views an autistic person and their carer may have about the person’s needs, and make clear in assessments who is expressing what opinion
  • recognise that carers may be particularly anxious about the future, when they are no longer able to oversee what is going on for their family member [89]
  • plan early with families for what may happen, to help allay these concerns – this includes involving siblings fully in this planning. [84]

Some carers may need help in identifying all the support that they give, as it can be subtle and fluctuating. Carers sometimes live according to the person with autism’s needs, and prioritise these over their own. They may do a lot of things unconsciously in relation to mediating between the autistic person and the outside world, such as answering all telephone calls or arranging appointments.

The need for clear communication with autistic people is mirrored by the need to communicate clearly with carers, and to avoid professional jargon which can act as a barrier to collaborative working.[48] This matters, because liaising with those closest to the autistic person can give professionals a much fuller picture of their support needs.

Carers and family members often become expert in the particular needs of the person they support. They can be hugely well informed about autism more generally, and many carers also become experts in how social care systems operate.[13] This makes them ideal partners to work with services. Carers of people who have been recently diagnosed, however, may benefit from information and advice on autism.

Collective efforts by groups of parents can be a useful mechanism for achieving change. This may be by:

  • advising local authorities/trusts over the provision of services
  • setting up mutually supportive group meetings
  • using the power of collective complaints to address poor access to services for autistic people and carers.[13]

Some carers in our study had set up advice services themselves when they found these lacking in their local community. The renewed call in ‘Think autism’ for local autism partnership boards to include a full range of stakeholders provides a key opportunity for carers to have a voice in their community.[19]

The 15 priority challenges identified in ‘Think autism’ through consultation with autistic people includes one specifically aimed at the families who do so much to support their loved ones with autism: ‘I want to know that my family can get help and support when they need it’.[19]

Local authorities need to prioritise carers’ wellbeing, as their knowledge, support and hard work go a long way towards improving the lives of adults on the autistic spectrum. The Care Act 2014 aims to go some way to doing this, but it is too soon after its introduction to evaluate how successfully.[20] The Carers Strategy for England, ‘Recognised, valued and supported’,[90] emphasises the expertise that carers have, but stresses that they should be entitled to dignity, financial wellbeing and a life beyond caring. Other key aspects of this strategy include:

  • better information on employment and benefits issues, and on the condition in question
  • better services for the cared-for person
  • less laborious assessment processes
  • more, and more personalised, respite breaks
  • more involvement of carers in service planning and delivery, and their input into joint strategic needs assessments (not available in Northern Ireland)
  • services that do not call for help whenever there is a problem, but properly support a person, and allow carers time away from caring
  • more flexible working for carers
  • more training for carers.

Were all or most of these available to carers of people with autism, it would be reasonable to expect that the challenges of caring, and the attendant physical and mental health difficulties, may be lessened.

Are Cerebral Palsy & Epilepsy connected

Around half of all children with cerebral palsy also have epilepsy. Both cerebral palsy and epilepsy are neurological disorders that often coexist with one another.

What is Epilepsy?

According to the National Institute of Neurological Disorders, epilepsy encompasses a “spectrum of brain disorders,” in which the pattern of normal neuronal activity is disrupted. [1] When the activity of brain cells, or neurons, is disturbed, convulsions (known as seizures) and muscle spasms result.

During these episodes, some children will experience loss of consciousness. As the fourth most common neurological disorder in the world, epilepsy can affect anyone at any age. Around 1 out of every 100,000 people develop epilepsy each year.

There are a number of different types of seizures, and people with epilepsy may experience one or several of the various types. It’s important to note that there is a difference between epilepsy and seizures. Someone who has only one seizure generally does not have epilepsy.

Epilepsy is marked by recurrent seizures. If someone has at least two but usually more seizures as an ongoing condition, they are more likely to be diagnosed with a seizure disorder, otherwise known as epilepsy.

What Causes Epilepsy?

For about half of epilepsy cases, there’s no known cause. Among the known causes of epilepsy, the most common include:

Prenatal Injuries

During intrauterine life, the developing brain of a fetus is highly susceptible to damage. This can occur from prenatal infections, maternal alcohol and drug use, when the oxygen or blood supply is low, and with poor nutrition or vitamin deficiencies.

Developmental and Genetic Disorders 

As mentioned earlier, cerebral palsy and epilepsy often coexist. Other neurodevelopmental and genetic disorders that can be associated with epilepsy include conditions like autism, neurofibromatosis, Angelman syndrome, and many others.

Sometimes a mutation in one or more genes can cause abnormalities in the brain that can be passed down and make a whole family more susceptible to epilepsy or other brain disorders.

Head Trauma

Head trauma, such as birth injuries, motor vehicle collisions, or any accident in which the head undergoes traumatic damage can lead to epilepsy. [2]

Diseases

A number of infectious diseases can cause direct damage to brain tissue, such as viral encephalitis and meningitis, which can result in epilepsy.

Oxygen Loss 

Any significant lack of oxygen to the brain before, during, or after birth, can cause seizures in babies. This can also occur with people of any age with a stroke, which is a bleed or obstruction to the blood flow in the brain. The brain damage that occurs is very often permanent and may leave the child with a seizure disorder.

What are the Symptoms of Epilepsy?

The main symptom of epilepsy is recurrent seizures, which are marked by any of the following:

  • Uncontrollable, jerking body movements, usually in the arms and legs
  • Repetitive movements of the face, including lip-smacking or chewing
  • Loss of awareness
  • Drooling
  • Difficulty talking
  • Rigid, tense muscles
  • The skin may look pale or flushed
  • Racing heart
  • Dilated pupils or staring
  • Sweating
  • Tongue biting
  • Tremors

Keep in mind that not every child will experience all of these symptoms.

Epilepsy Treatment

Physicians usually treat epilepsy with medication. [3] The type of medicine prescribed is based on the particular seizure type experienced by the child. However, since each child is different, finding the correct medication, along with the right dosage, can be an arduous process.

Doctors usually prescribe the first medication at a low dosage to see how effective it is, and how many side effects the child will experience. Most epilepsy medications have significant side effects, especially when they are first started, which can include dizziness, weight gain, fatigue, nausea, skin rashes, and more, depending on which medication is prescribed.

Over half of the people who begin medication find success with this method of treatment, and with continued use, may even eventually become seizure-free. There are some for whom the medication works well to control the seizures, but they will have to continue on medicine for life in order to remain seizure-free.

If medications fail to work, physicians may recommend a treatment called vagus nerve stimulation. This involves the placement of a small device into the patient’s chest. This device sends low levels of electrical energy to stimulate the vagus nerve, which may reduce seizure activity between 20% and 40%.

The ketogenic diet is another treatment option for epilepsy that fails to respond to medication. It’s a strict diet, however, that entails substantially lowering carbohydrates while increasing fats. The body will then use fat for energy, as opposed to carbohydrates.

It is a difficult diet for families to follow because of the severe limitations in what the child may eat, as well as the continuous need to monitor for ketones.

You’ll need to work closely with your physician, as well as a dietitian or nutritional counselor, if you decide to have your child try the ketogenic diet, as some children may experience adverse side effects, including dehydration and nutritional deficiencies.

However, with proper medical supervision, the side effects are not too common. Around 10% to 15% of children who go on the ketogenic diet are seizure-free within a year, although it is very rare for people to be able to stay on this diet successfully for long periods of time.

If all other treatments have been exhausted, surgery may be considered as the next option. Surgical procedures are generally only performed as a last resort, and when doctors determine that the seizures occur in a specific part of the brain that doesn’t hinder vision, speech, hearing, or motor function. During the operation, the part of the brain that’s causing seizures is removed.

Studies on Cerebral Palsy and Epilepsy

According to a scientific study published in the European Journal of Epilepsy, spastic quadriplegia and spastic diplegia are the most common types of cerebral palsy associated with epilepsy. [4] Symptoms of epilepsy generally start for children with cerebral palsy during the first year of life, some within the first month after birth.

Epilepsy Prognosis

If children respond well to medication, there’s a good chance that they’ll be seizure-free one day, and may even be able to discontinue epilepsy medication use. It is important to note, however, that many children with cerebral palsy will need to remain on medication to control their seizures for life.

The University of Maryland Medical Center (UMM) states that long-term survival rates are lowered when traditional treatment options, such as medications and surgery, fail to work. Accidents from uncontrollable seizures also play into the lower survival rate.

These are cases in which the severity of the seizure disorder is part of an overall more severe form of cerebral palsy, and many other organ systems are affected, leading to a shortened life span.

Autism

What is autism?

Autism is a lifelong developmental disability that affects how people perceive the world and interact with others.

Autistic people see, hear and feel the world differently to other people. If you are autistic, you are autistic for life; autism is not an illness or disease and cannot be ‘cured‘. Often people feel being autistic is a fundamental aspect of their identity.

Autism is a spectrum condition. All autistic people share certain difficulties, but being autistic will affect them in different ways. Some autistic people also have learning disabilitiesmental health issues or other conditions, meaning people need different levels of support. All people on the autism spectrum learn and develop. With the right sort of support, all can be helped to live a more fulfilling life of their own choosing.

How common is autism?

Autism is much more common than most people think. There are around 700,000 autistic people in the UK – that’s more than 1 in 100. People from all nationalities and cultural, religious and social backgrounds can be autistic, although it appears to affect more men than women.

How do autistic people see the world?

Some autistic people say the world feels overwhelming and this can cause them considerable anxiety.

In particular, understanding and relating to other people, and taking part in everyday family, school, work and social life, can be harder. Other people appear to know, intuitively, how to communicate and interact with each other, yet can also struggle to build rapport with autistic people. Autistic people may wonder why they are ‘different’ and feel their social differences mean people don’t understand them.

Autistic people often do not ‘look’ disabled. Some parents of autistic children say that other people simply think their child is naughty, while adults find that they are misunderstood. We are educating the public about autism through our Too Much Information campaign.

Diagnosis

diagnosis is the formal identification of autism, usually by a multi-disciplinary diagnostic team, often including a speech and language therapist, paediatrician, psychiatrist and/or psychologist.

The benefits of a diagnosis

Getting a timely and thorough assessment and diagnosis may be helpful because:

  • it helps autistic people (and their families, partners, employers, colleagues, teachers and friends) to understand why they may experience certain difficulties and what they can do about them
  • it allows people to access services and support.

How autism is diagnosed

The characteristics of autism vary from one person to another, but in order for a diagnosis to be made, a person will usually be assessed as having had persistent difficulties with social communication and social interaction and restricted and repetitive patterns of behaviours, activities or interests since early childhood, to the extent that these “limit and impair everyday functioning“.

Read more about diagnostic criteria and the triad of impairments theory.

Persistent difficulties with social communication and social interaction

SOCIAL COMMUNICATION

Autistic people have difficulties with interpreting both verbal and non-verbal language like gestures or tone of voice. Many have a very literal understanding of language, and think people always mean exactly what they say. They may find it difficult to use or understand:

  • facial expressions
  • tone of voice
  • jokes and sarcasm.

Some may not speak, or have fairly limited speech. They will often understand more of what other people say to them than they are able to express, yet may struggle with vagueness or abstract concepts. Some autistic people benefit from using, or prefer to use, alternative means of communication, such as sign language or visual symbols. Some are able to communicate very effectively without speech.

Others have good language skills, but they may still find it hard to understand the expectations of others within conversations, perhaps repeating what the other person has just said (this is called echolalia) or talking at length about their own interests.

It often helps to speak in a clear, consistent way and to give autistic people time to process what has been said to them.

Social interaction

Autistic people often have difficulty ‘reading’ other people – recognising or understanding others’ feelings and intentions – and expressing their own emotions. This can make it very hard for them to navigate the social world. They may:

  • appear to be insensitive
  • seek out time alone when overloaded by other people
  • not seek comfort from other people
  • appear to behave ‘strangely’ or in a way thought to be socially inappropriate.

Autistic people may find it hard to form friendships. Some may want to interact with other people and make friends, but may be unsure how to go about it.

Read more about communication and social interactionsocial isolation and social skills.

Restricted and repetitive patterns of behaviours, activities or interests

REPETITIVE BEHAVIOUR AND ROUTINES

The world can seem a very unpredictable and confusing place to autistic people, who often prefer to have a daily routine so that they know what is going to happen every day. They may want to always travel the same way to and from school or work, or eat exactly the same food for breakfast.

The use of rules can also be important. It may be difficult for an autistic person to take a different approach to something once they have been taught the ‘right’ way to do it. People on the autism spectrum may not be comfortable with the idea of change, but may be able to cope better if they can prepare for changes in advance.

HIGHLY-FOCUSED INTERESTS

Many autistic people have intense and highly-focused interests, often from a fairly young age. These can change over time or be lifelong, and can be anything from art or music, to trains or computers. An interest may sometimes be unusual. One autistic person loved collecting rubbish, for example. With encouragement, the person developed an interest in recycling and the environment.

Many channel their interest into studying, paid work, volunteering, or other meaningful occupation. Autistic people often report that the pursuit of such interests is fundamental to their wellbeing and happiness.

SENSORY SENSITIVITY

Autistic people may also experience over- or under-sensitivity to sounds, touch, tastes, smells, light, colours, temperatures or pain. For example, they may find certain background sounds, which other people ignore or block out, unbearably loud or distracting. This can cause anxiety or even physical pain. Or they may be fascinated by lights or spinning objects.

Read more about repetitive behaviour and routines and sensory processing.

Different names for autism

Over the years, different diagnostic labels have been used, such as autism, autism spectrum disorder (ASD), autism spectrum condition (ASC), classic autism, Kanner autism, pervasive developmental disorder (PDD), high-functioning autism (HFA), Asperger syndrome and Pathological Demand Avoidance (PDA). This reflects the different diagnostic manuals and tools used, and the different autism profiles presented by individuals. Because of recent and upcoming changes to the main diagnostic manuals, ‘autism spectrum disorder’ (ASD) is now likely to become the most commonly given diagnostic term.

Read more about different diagnostic profiles, terms and criteria.

Causes and cures

What causes autism?

The exact cause of autism is still being investigated. Research into causes suggests that a combination of factors – genetic and environmental – may account for differences in development. Autism is not caused by a person’s upbringing, their social circumstances and is not the fault of the individual with the condition.