Behavioural, Intellectual, Learning and Psychiatric challenges
The impacts of TSC on behavior, learning and mental health are often the most difficult symptoms of TSC for families to cope with. It is important that families, carers, educators and health professionals are aware of these challenges; look for them in the TSC affected person at regular intervals; and implement appropriate strategies to deal with them.
Assessment and management of these signs of TSC can involve a number of different professionals:
- A psychiatrist is a medical doctor who specialises in the treatment of mental illness. Some psychiatrists will specialize in treating younger people, so may be called child and adolescent psychiatrists.
- A neuropsychiatrist is a medical doctor who specialises in the links between the brain and behaviour. They will usually be a psychiatrist before they take additional training to be a neuropsychiatrist.
- A developmental paediatrician is a medical doctor who has a special interest, training and experience in the development of children. This includes how they grow, how they acquire knowledge and skills, and how they learn to behave and socialize. Developmental paediatricians tend to specialise in disorders of development such as autism, intellectual disability, cerebral palsy.
- A clinical psychologist is a specially qualified psychologist who can provide assessment as well as treatment. There are many different types of psychologists and in Australia there are specific training requirements that need to be met before a person can call themselves a psychologist.
- Counsellors, social workers and therapists can have a range of different qualifications and experience.
- Special education teachers are specially trained to work with children who have special needs. They may be involved in creating individual plans, adapting teaching methods and equipment to suit the needs of the individual student.
Different professionals will describe different aspects of behaviour, learning and mental health differently. This can be confusing and people with TSC and their carers should ask for clarification if they are unsure what aspect of behavior, learning or mental health is being assessed or treated.
Signs and Symptoms
The aim of understanding the different areas where a person with TSC may have difficulties is to identify the areas of strength and weakness in each individual. This is done through regular assessment and testing. After these strengths and weaknesses are identified the team of professionals can work with the family to work out what additional help may be needed to help the individual achieve their potential.
“Behavioural difficulties” refers to the problems that can be observed at home, at school or in a clinic. Some examples of difficult behaviours that are common in people with TSC are:
- Poor eye contact
- Repetitive and rituatlistic behaviours
- Speech and language delay
- Temper tantrums
- Sleep difficulties
- Depressed mood
- Extreme shyness
Only some of these behavioural difficulties will be related to a specific disorder that can be diagnosed, such as an attention deficit hyperactivity disorder (ADHD) or autism. These disorders are covered in more detail below. Diagnosis requires that a mental health professional, such as a psychiatrist, use their expertise to assess the individual against the criteria for a specific psychiatric disorder.
Some of these behavioural difficulties are more common in people with TSC who also have an intellectual disability. For example, some surveys of TSC affected children and adolescents with an IQ in the normal range show that about half will have aggressive behaviours and about half will have sleep problems. TSC affected adults with an IQ in the normal range are at an increased risk of mood and anxiety disorders.
Developmental delay is the term used when a young child is slower to reach milestones than other children. Delay may occur in the way a child moves, communicates, thinks and learns, or behaves with others.
If the delay is ongoing, the child may be diagnosed with a developmental disability. Specific developmental disabilities include autism and ADHD.
Autism spectrum disorders (ASDs) are lifelong developmental disabilities characterised by marked difficulties in social interaction, impaired communication, restricted and repetitive interests and behaviours and sensory sensitivities.
The largest studies into rates of autism in children with TSC find that approximately 40-50% of children with TSC have an autism spectrum disorder. TSC is now considered to be the medical condition most strongly associated with autism, even more than fragile X or neurofibromatosis.
Diagnosis of autism includes assessment of three main areas:
- An impairment in the ability to interact socially with people; often demonstrating a lack of eye contact and disinterest in physical contact such as hugging or hand-holding;
- An impairment in the ability to communicate using speech and/or gestures; and
- A tendency to have narrow patterns of interests and activities coupled with repetitive and obsessive behaviors, and a lack of pretend or imaginative play; often children with autism find it necessary to have rigid and structured routines.
There is no one feature of autism that on its own can confirm or rule out autism. There is a wide spectrum of autism that ranges from very severe to very mild, this is the reason for the term autism spectrum disorder (ASD). Autism Spectrum disorder includes Asperger’s syndrome and pervasive development disorder (PDD). The criteria used to diagnose autism spectrum disorders under review and may change over the next few years.
If a child with TSC demonstrates autistic behaviours it is important to seek an accurate diagnostic evaluation. This is often the first step to receiving the appropriate educational services and support such as early intervention.
Attention Deficit Hyperactivity Disorder (ADHD) is usually first diagnosed in childhood and often lasts into adulthood. Children with ADHD have trouble paying attention, have impulsive behaviors (may act without thinking about what the result will be), and in some cases are overly active.
Rates of ADHD in the general population are between 3 and 5%; in people with TSC the rate may be anywhere from 30% to 55%. Individuals who also have an intellectual disability may be more likely to also have ADHD.
The main groups of symptoms seen in ADHD are
- Inattention-related behaviors
- hyperactivity-related behaviors
- impulsivity-related behaviors.
The hyperactivity and impulsivity usually appear first, often beginning prior to the school age years. Inattention may not be recognized until primary school. The child with hyperactivity may fidget and squirm, can’t stay seated, runs when he or she should walk, is noisy, and is often described as constantly on the go. The impulsivity is seen as difficulty in waiting their turn, frequently interrupting others, and excessive talking even when expected to be quiet. The child with inattention finds it difficult to concentrate and is easily distracted, makes frequent careless errors, appears not to listen and seldom completes work, is disorganized and tends to procrastinate, and is forgetful and frequently loses books, homework or clothes.
As people with ADHD get older, the symptoms change in subtle ways. The teenager with hyperactivity and impulsivity feels restless and moves quickly from one task to the next, frequently failing to complete projects. Emotional disregulation, or mood swings, is another common symptom in older individuals with ADHD. While most people have some of these symptoms some of the time, the person with ADHD has many of these symptoms most of the time.
Many children with TSC may have behaviours that look like ADHD. These can be related to intellectual disability, epilepsy, SEGAs, sleep difficulties and other attention deficits. . It is therefore important that individuals with TSC who have attention-related problems should have a thorough assessment, so that ADHD or other problems can be diagnosed and treated.
It is difficult to know the exact rates of these disorders in individuals with TSC. Most researchers agree that individuals with TSC, with and without an intellectual disability, are at increased risk of both mood and anxiety disorders.
Psychotic disorders with hallucinations or delusions can be seen in association with epilepsy, particularly with temporal lobe seizures. If an individual with TSC experiences psychotic phenomenon, particularly visual hallucinatory phenomena, epileptic activity in the temporal lobe part of the brain should be investigated.
Sleep difficulties can include insomnia, sleep apnea and restless leg syndrome. Most researchers have found people with TSC, and especially those with an intellectual disability, are at higher risk of sleep disturbances.
It can be very difficult to identify the cause and find treatments for sleep disturbances in people with TSC. This can be because they are having night time seizures or because of side effects of anti-epilepsy medication. When an individual has an intellectual disability and/or communication difficulties this can make it more difficult to understand the cause of sleep disturbances.
Measuring IQ is only one way to measure intellectual ability. In TSC there is a very large range of intellectual abilities, from very high to extremely low. The graph illustrates this. About 30% of people with TSC will fall in the profoundly impaired range. Approximately 70% of people with TSC will have an IQ on the normal distribution. About 50% of individuals with TSC will have an IQ in the same range as the general population.
When different aspects of intellectual ability are measured, such as verbal skills, puzzle skills, map reading, there does not seem to be a predictable pattern in individuals with TSC. This is another reason it is important to assess each individual to understand their own strengths and weaknesses.
Individuals with TSC may also have specific academic difficulties, even if they have intelligence in the normal or high range. These may include reading disorders (sometimes referred to as dyslexia), mathematic disorders or written expression disorders.
Some research studies have also shown that even the most able individuals with TSC can have difficulties with executive skills. Executive skills are those related to how the brain’s “control centre” works and can include how the brain manages multi-tasking, planning and changing attention. Similar to other ways of assessing intellectual ability, there is not a predictable pattern of what types of executive skills an individual will have difficulties with. Again, this means that individual assessment is very important.
How TSC causes these difficulties with behaviour, learning and mental health is not clear. It is also not clear why there is such a large variation in how different individuals with TSC, even those within the same family, are affected.
Researchers used to think that these difficulties were caused by a combination of:
- The number and position of tumours (tubers) in the brain
- The types of seizures, age of onset and whether the seizures can be controlled
However, as researchers have done more work, is has become clear that the molecular abnormalities caused by the TSC mutation can directly lead to learning, behavioural and mental health problems.
People with TSC who have infantile spasms and difficult to control epilepsy do seem to be at greater risk of developmental disorders including autism and of having an intellectual disability. This is the reason that many neurologists will recommend an aggressive approach to seizure control, especially in young children.
Monitoring is important because it can lead to early detection and treatment. Each person with TSC should have an individual management plan developed with their medical team that uses these guidelines as a starting point.
Assessment of behavioural, intellectual, learning and psychiatric deficits is especially important because there is so much variation between different individuals with TSC. By understanding the individual’s strengths and weaknesses, the best treatment options can be determined.
Assessment will involve many different health professionals who may work for different organisations. These might include doctors working in a hospital or private practice, therapists working in an independent centre or teachers working within the child’s school. Different health professionals will have different skills and tools for assessment.
There are two main recommendations that were developed in 2003 at a consensus meeting held with international experts in TSC:
- Perform regular assessment of cognitive development and behaviour to identify and treat emerging difficulties and to establish a baseline for evaluating any later changes.
- Perform a comprehensive assessment when there are changes in cognitive development or behaviour to identify and treat the underlying causes of neurobehavioral change.
A more detailed explanation of these assessment guidelines is available here:
A consensus conference was held in June 2012 and this page will be updated with the revised assessment guidelines when these have been published.
Based on the results of individual assessment, an individual management plan should be developed. This plan should be developed in consultation with everyone on “the team”: the individual with TSC and their family along with the health and education professionals involved in their care.
This section describes some of the main options for managing behavioural, intellectual, learning and mental health challenges in individuals with TSC.
These might include:
- Education about the disorder(s): Learning more about the specific challenges facing the individual with TSC will usually be beneficial for all family members, carers and the person with TSC. This might include parents, siblings, grandparents, teachers, fellow students, colleagues and respite carers.
- Managing Behaviours: interventions may be particularly effective for very challenging behaviours such as self-injury, aggression and sleep problems. With expert support, even severely challenging behaviours can be reduced, managed or shaped into more appropriate behaviour.
- Cognitive Behavioural Therapy (CBT): This approach can help an individual identify their own unhelpful behaviours and thoughts and find ways of handling them differently.
- Coaching Techniques: A coach can work with the individual to identify areas of weakness and then work on these as skills to develop. This is a very practical approach that may be helpful to a broad range of people and challenges.
- Psychodynamic therapies: This approach involves a therapist helping a person reflect on their unconscious thought processes that lead to conflict. Options include psychotherapy, family therapy, relationship therapy.
- Autism and Autism Spectrum Disorder approaches: There are many different strategies that may help to create a learning and home environment that is “autism-friendly”. This might include clear and simple communication, consistent routines and visualized schedules. There are other interventions specifically designed for ASD. It is important to understand that these interventions may have varying amount of evidence on whether they work. One helpful resource is the UK charity, Research Autism.
Medication can have a role to play in treating the behavioural, intellectual, learning and mental health signs of TSC. It is important to consider how any medication will impact organs of the body that may also be affected by TSC or under stress due to anti-epilepsy medication, such as the heart, kidneys and liver.
It may be useful to consider medication to treat:
- Severe ADHD
- Depression and Anxiety disorders
- Sleep disorders
- Challenging behaviours
Medicines should always be used in combination with other behavioural, educational and other strategies, never on their own.
There is some evidence from clinical trials and research in animal models that mTOR inhibitor medications may have a positive impact on behaviour and learning. This research is still in progress and it will be some time before it is known whether these medicines should be prescribed to treat these difficulties.
Individuals with TSC with normal or high intelligence are particularly at risk of struggling in a classroom. This is because they may have specific area of weaknesses that may be “invisible” to the untrained eye. These may include difficulties with attention or dual tasking. This is another way that individual assessment can help.
Prepared by: Clare Stuart, The Australasian Tuberous Sclerosis Society
Reviewed by: Prof Petrus de Vries, Sue Struengmann Professor of Child & Adolescent Psychiatry, University of Cape Town, South Africa
- Kwiatkowski D.J., Whittemore V.H. & Thiele E.A. (2010) Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. Weinheim: Wiley-Blackwell
- Guidelines For The Assessment Of Cognitive And Behavioral Issues In TSC, Tuberous Sclerosis Alliance, viewed 10 May 2012, http://tsalliance.org/pages.aspx?content=589
- Attention Deficit Hyperactivity Disorder And Tuberous Sclerosis Complex , Tuberous Sclerosis Alliance, viewed 10 May 2012, http://tsalliance.org/pages.aspx?content=582
- TSC and Autism Spectrum Disorders, Tuberous Sclerosis Alliance, viewed 10 May 2012, http://tsalliance.org/pages.aspx?content=604