SECTION 13: COGNITION AND BEHAVIOUR
Learning and behaviour
The gene that causes Pitt-Hopkins syndrome is necessary for the development of the nervous system and it plays an important role in learning (cognition) and behaviour. Children and adults with PTHS often have problems with filtering the stimuli coming from outside their body and within.
If parents and caregivers manage to make the environment quieter (‘filtering’) the children and adults are no longer overloaded with information, will find it easier to get the relevant information and often have fewer behavioural problems as well.
It is difficult to identify suitable assessment tools for people with PTHS. However, everyone with PTHS in publications shows moderate to severe intellectual disability. In most reported people with PTHS their developmental ages range from 9 months to 3 years (and an average of 14-16 months).
It’s been reported that some people have only a mild cognitive delay, but they had unusual changes in the gene and when assessed more carefully it is clear they do not have PTHS.
People with PTHS have mild to severe problems learning to roll, sit and walk, and often make repeated movements such as hand clapping and flapping, repeated hand to mouth movements, head shaking, head banging, body rocking, washing, finger crossing, and rubbing toes together.
They are delayed in learning to roll, sit and walk and also in self-care skills like feeding themselves. Very few learn to dress themselves or use the toilet on their own. It has been seen that many can help with dressing, like unzipping their coats.
Skills can continue to develop as they get older. But a very small number of older people lose this ability. Once someone is diagnosed with PTHS, they should have developmental assessments to work out the services and educational solutions they need to help with their development.
Language and communication
Children and adults with PTHS usually have problems with remembering words and developing language. Most never learn to speak. Just over a half will say single words before the age of 10, but many will have no speech at all their whole life. Everyone with PTHS should be assessed for the best communication options to them.
Speech therapy including access to augmentative and alternative communication (AAC) should be considered. Other areas to consider are special education services focusing on the development of life skills and help aimed at changing behaviour such as self-harming and anxiety.
Physiotherapy and occupational therapy are recommended for the development of motor coordination, with the goal that a child can carry out an intended movement like picking up a toy. When a child is being assessed for communication and language abilities all aspects including motor abilities should be taken into account.
Most children with PTHS are described as friendly and show loveable behaviours. Half are described as having a smiley appearance. But many will also pull hair, have temper tantrums, throwing their arms and legs out, and banging on or throwing or kicking objects. Some also self-harm, such as pinching, pressing, or hitting themselves, and also have problems connecting with others.
Other behaviours are anxiety, distress, repetitive actions, and autism spectrum disorder (ASD). Problems in filtering and processing sensory input like bright lights puts a person with PTHS at risk of either being under- or over-stimulated and can lead to inappropriate behaviours, for example head shaking.
However, there is evidence that for some children their mood is improved by music. Children and adults with PTHS need a sensory processing assessment to help work out what to avoid or to introduce to prevent under- and/or overstimulation.
Anxiety and agitation
More than one-third of people with PTHS have anxious, agitated and/or aggressive behaviours. There could be several things contributing to this:
* the frustration of not being able to communicate
* pain that’s gone unrecognised or other sensory or body issues
* changes in routine – this can lead to aggression and shouting
* the onset of puberty can increase these behaviours.
Most with PTHS studied show repeated movements such as flapping, twisting body movements or flicking hands or fingers. This can be seen in the way they hold objects like toys, which some will turn over in their hand, or being fascinated by certain objects.
These repeated behaviours may become stronger when they are anxious or when they are not able to get away from difficult situations like a room with loud music.
Autism spectrum disorder
It is common for children with PTHS to lack the skills they need to interact socially and communicate with others. This goes along with repeated behaviour patterns, such as hand clapping and flapping, head banging, body rocking, or finger movements. They are also likely to have fewer adaptive skills that allow them to adapt to different environments, to other people and to solve problems.
Often a person’s lack of skills can’t be explained by their degree of intellectual disability, and therefore it’s important to carefully observe their behaviour and assess them for autism. If someone with PTHS gets a diagnosis of autism spectrum disorder, this can help parents or carers, for instance they can avoid over-stimulation and/or under-stimulation.
Medication for behaviour
When behaviour like self-harming persists, it can be very distressing and it needs to be treated. Health care professionals should first consider if physical, mental, and environmental issues are leading to the problematic behaviour. This should be done through careful assessments and looking for solutions that include changing the person’s environment, such as softer lighting, and behavioural therapy.
If these solutions are not enough, the person with PTHS may benefit from medication. There is not much scientific proof that drugs that affect a person’s mental state (psychotropic medication) is effective in children with PTHS, and there have been no controlled studies. Still, in a survey on medication during the PTHS World Conference, 28 families gave their experience on different types of medication and their effects and side effects.
Melatonin and/or gabapentin was used for sleep problems, methylphenidate and clonidine were used for irritability, agitation and hyperactivity, and lorazepam for agitation. Antipsychotic agents, pipamperon and promethazine, were used to help with challenging behaviour.
Doctors should carefully monitor the prescribing and use of these antipsychotic drugs because we don’t have enough evidence of how effective they are and using them long-term may lead to significant harmful effects such as weight gain, high blood pressure and diabetes.
Overall, parents reported they were satisfied with medications their children had been prescribed and noted few significant side effects, but no single medication was found to be extraordinarily effective. In general, prescriptions should start at low doses and gradually give more or less medication, in a slow way, to find out what works best.
Doctors should monitor the person’s health before starting and while giving medications and consider from time to time if stopping of continuing medication is useful. Doctors should make sure they ask the parents or carers how well the medicine is working.
33/ Everyone with PTHS should be assessed for their levels of cognition, social-emotional development, and communication.
34/ Most people with PTHS cannot speak. Every effort should be made to explore other methods of communication in both children and adults including augmented communication techniques.
35/ Someone with PTHS should get additional developmental and educational support to maximise their learning and educational potential, taking into account how well the children and adults can communicate.
36/ Special education strategies should focus on learning skills to enhance daily life skills and to modify anxious and/or self-harming behaviours.
37/ Assessing the sensory processing profile in children and adults with PTHS helps care, especially in preventing under- and/or over-stimulation.
38/ The first signs of anxiety, agitation or aggression may be difficult to recognise in someone with PTHS as they may have problems communicating. Health care professionals should carry out face-to-face assessments and observations in the person’s own environment.
39/ Doctors should consider a separate diagnosis of autistic spectrum disorder in everyone with PTHS. If such diagnosis is made, specific interventions will be helpful.
40/ No specific medication is known to be generally effective in helping problematic behaviour of children or adults with PTHS, and doctors should follow prescribing practices as in the general population.