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Table 2. Suggested epilepsy phenotypes in genetic conditions causing mental handicap10-12,14.

Condition Nature of epilepsy, provisional Study

Angelman Seizure onset in early childhood, evolution of seizure Matsumoto et al
syndrome type from high-voltage slow bursts in infancy to (1992)14
diffuse spike and wave in middle childhood. Webb et al
Tuberous Atypical absences and absence status (1991)10
sclerosis
62% risk of developing seizures

Fragile X Debate over specific EEG changes similar to benign Musumeci et al
syndrome childhood epilepsy with centro-temporal spikes (1991)12
Stafstrom
Down Seizure prevalence of 113%. Two peak incidences (1993)11
syndrome in first year of life and later life, the latter being
associated with the presence of Alzheimer’s disease

In addition to complex physical and sensory impairments this population has a high
prevalence of other co-morbidities. Communication difficulties are inevitable and will lead,
as we shall discuss, to difficulties in the diagnostic and treatment process. It is however the
high prevalence of behaviour disorder, with an estimated community prevalence for
psychiatric and emotional disturbance of 32.2% in people with learning disability7, that can
affect both assessment and treatment. This leads to two main confounders. First, confusion
of behaviours not associated with epilepsy with those that are epilepsy related and, second,
the effect of prescribing antipsychotic medication, due to their known epileptogenic
potential17. Many studies have looked at the prevalence of antipsychotic medication in
populations of people with learning disability18. Prevalence figures range from 40.2% in
hospitals, through 19.3% in the community, to 10.1% in family homes.

Diagnosis

Communication skills  management by proxy
As mentioned previously, the complexity of aetiology and the presence of communication
difficulties alters our approach and may diminish reliability. The ability to communicate and
place at ease the individual with learning disability is a key skill for any epileptologist. It is
known, for example, that young people with profound learning disability can discriminate
between familiar people and those who are strangers, and are able to form personal
relationships. When inexperienced strangers try and communicate with this group of people
they have significantly less interactive and communicative involvement19. Unfortunately
many doctors have little training in this area.

In people with learning disability, a witness report from a carer or family member is common,
a report from the individual is less so. Thus our history and management will commonly
progress through another  ‘management by proxy’. The degree of this will increase as the
individual’s communicative skills decrease.

Good quality communication skills can be achieved through education. Analysis of
communication suggests that addressing the following skills would be appropriate:

1. Non-verbal; gaze, appropriate touch, use of gesture
2. Vocal; appropriate tone, intelligibility
3. Verbal; greeting, using individual’s name, balance of communication with carer