Epilepsies in Children and Young People: Investigative Procedures and Management

This Guidelines summary aims to specifically address the key areas of care in the management of epilepsy in children and young people in primary care settings. Recommendations on investigative procedures outside of the section on ’key recommendations’, are not included in this summary. For recommendations applicable to secondary and specialised care, refer to the full guideline. 

Grades of Recommendations

[R] For ‘strong’ recommendations on interventions that ‘should’ be used, the guideline development group is confident that, for the vast majority of people, the intervention (or interventions) will do more good than harm. For ‘strong’ recommendations on interventions that ‘should not’ be used, the guideline development group is confident that, for the vast majority of people, the intervention (or interventions) will do more harm than good.

[R] For ‘conditional’ recommendations on interventions that should be ‘considered’, the guideline development group is confident that the intervention will do more good than harm for most patients. The choice of intervention is therefore more likely to vary depending on a person’s values and preferences, and so the healthcare professional should spend more time discussing the options with the patient.

Good-practice Points

[✓] Recommended best practice based on the clinical experience of the guideline development group.

Key Recommendations

The following recommendations were highlighted by the guideline development group as the key clinical recommendations that should be prioritised for implementation. 

Investigative Procedures

• If a clinical diagnosis of epilepsy has been made, electroencephalogram (EEG) is recommended for further classification of epilepsy. If standard EEG is normal, a second-line EEG that captures sleep should be carried out. This could be an ambulatory, sleep-deprived, or melatonin-induced sleep EEG. [R]

Non-pharmacological Management

• A ketogenic diet should be offered as a treatment option in children with drug-resistant epilepsy [R]
• Children with drug-resistant epilepsy who fulfil referral criteria for assessment for surgery should be identified early. [R]

Cognitive, Developmental, and Psychiatric Comorbidities

• Healthcare professionals should routinely enquire about depression and anxiety symptoms in all children and young people with epilepsy. [R]

Transition

• Paediatric services providing care to children and young people should consider the use of a planned, structured, educational approach directed at both patients and carers, to help prepare young people with epilepsy for the move to adult healthcare services. [R]

Mortality

• At or around the time of diagnosis healthcare professionals caring for children and young people with epilepsy should: [R]
  • have a face-to-face discussion about sudden unexpected death in epilepsy (SUDEP) with families/carers and young people
  • provide written information to reinforce information provided face to face.

Definition, Classification, and Diagnosis of Epilepsy

Definition of Epilepsy

• In 2014 the International League Against Epilepsy (ILAE) task force for the definition of epilepsy proposed that epilepsy be considered a disease of the brain defined by any of the following conditions:
  • at least two unprovoked (or reflex) seizures occurring more than 24 hours apart
  • one unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years or
  • diagnosis of an epilepsy syndrome.

Classification of Epilepsy Seizures and Syndromes

• Classification of seizure types and epilepsy syndromes should always be attempted, as both may have implications for management and prognosis
• The ILAE classification systems for seizures and epilepsy syndromes remain the most widely used and recognised systems in clinical practice (ilae.org)
• Finding an aetiology and classifying into the appropriate epilepsy syndrome where possible is important for treatment choice, predicting outcome, and monitoring. This should be revisited if it is not possible at the time of diagnosis.

History and Clinical Features

• An accurate history of the event should be taken from first-hand witnesses and the child [✓] 
• In any child being evaluated for paroxysmal events of uncertain nature, every effort should be made to ensure that a typical event is captured on video and reviewed by a clinician with expertise in epilepsy [✓] 
• A secure video transfer service and remote monitoring of epilepsy should be considered to ensure fast, accurate diagnosis and management [✓] 
• Information point: provide children, young people, families, and carers with an explanation and information^[A] about epilepsy. 

Who Should Make a Diagnosis of Epilepsy?

• The diagnosis of epilepsy should be made by an epilepsy specialist [✓] 
• Information point: the diagnosis of epilepsy should be communicated to children, young people, families, and carers with appropriate information^[A] about epilepsy and contact details to discuss this further.

Pharmacological Management

Antiepileptic Drugs

• Information point: discuss treatment options with young people and their families/carers and offer written and verbal information on:
  • choice of drug
  • efficacy
  • adverse effects/side effects
  • adherence, including how it should be taken
  • dosage
  • drug interactions
• All children with complex epilepsies should be managed in tertiary epilepsy clinics or have ongoing management with a tertiary epilepsy specialist. [✓] 

Focal Epilepsy

• First-line treatment:
  • carbamazepine or lamotrigine could be considered for children and young people with focal epilepsy [R]
  • levetiracetam, oxcarbazepine, or sodium valproate could be considered for children and young people with focal epilepsy if carbamazepine and lamotrigine are not suitable or tolerated [R]
  • sodium valproate should not be used in girls of childbearing potential unless there is no suitable alternative and a pregnancy prevention programme is in place [✓] 
• Adjunctive treatment:
  • carbamazepine, clobazam, gabapentin, lamotrigine, levetiracetam, oxcarbazepine, sodium valproate, topiramate, or zonisamide (over 6 years of age) can be considered as adjunctive therapies in children and young people with focal epilepsy if first-line therapies are ineffective or not tolerated [R]
  • sodium valproate should not be used in girls of childbearing potential unless there is no suitable alternative and a pregnancy prevention programme is in place [✓] 
  • perampanel could be considered as adjunctive therapy in adolescents from 12 years of age with focal epilepsy. [R]

Generalised Epilepsy

• Ethosuximide should be considered as first-line monotherapy for the treatment of patients with childhood absence epilepsy. Sodium valproate should also be considered, but has a higher risk of adverse events [R]
• Lamotrigine could be considered for patients with childhood absence epilepsy if ethosuximide and sodium valproate are ineffective, not suitable, or not tolerated [R]
• A combination of two or three antiepileptic drugs (AEDs) could be considered if two first-line AEDs are ineffective. If treatment is still ineffective, advice should be sought from—or the patient should be referred to—a tertiary epilepsy specialist to consider the use of clobazam, clonazepam, levetiracetam, topiramate, or zonisamide [R]
• Sodium valproate should not be used in women and girls of childbearing potential unless there is no suitable alternative and a pregnancy prevention programme is in place. [✓] 

Lennox–Gastaut Syndrome

• Sodium valproate could be considered as first-line treatment for seizure reduction in children with Lennox–Gastaut syndrome [R]
• Rufinamide (4 years and older), clobazam (2 years and older), lamotrigine (2 years and older), or topiramate (2 years and older) could be considered as adjunctive therapy in children with Lennox–Gastaut syndrome [R]
• Cannabidiol could be considered as an adjunctive therapy in conjunction with clobazam for children (2 years and older) with Lennox–Gastaut syndrome. [R]

Infantile Spasms/West Syndrome

• Hormonal treatment (adrenocorticotropic hormone, tetracosactide, or prednisolone) or vigabatrin could be considered as the first-line treatment for infantile spasms. Children should be closely monitored for adverse events. [R]

Tuberous Sclerosis

• Everolimus could be considered as an adjunctive treatment for children (age 2 years and older) with refractory seizures associated with tuberous sclerosis complex, when other treatments have failed. Children prescribed everolimus should be closely monitored for adverse events. [R]

• Vigabatrin should be considered as first-line treatment in infantile spasms for children with tuberous sclerosis. Children prescribed vigabatrin should be closely monitored for adverse events. [R]

Dravet Syndrome

• Sodium valproate or topiramate could be considered as first-line therapy for children with Dravet syndrome [R]
• Stiripentol or clobazam could be considered as an adjunctive therapy for children (3 years and older) with Dravet syndrome whose seizures are poorly controlled with sodium valproate [R]
• Cannabidiol could be considered as an adjunctive therapy in conjunction with clobazam for children (2 years and older) with Dravet syndrome. [R]

Steroids and Immune Therapy For Drug-resistant Epilepsy

• A small (n=21) observational study reported the effectiveness of a hybrid corticosteroid regimen for the treatment of refractory childhood seizures
• Participants received high-dose intravenous methylprednisolone for 3 days and then low-dose alternate-day prednisolone for 12 weeks, before tapering, and this improved seizures (>50% reduction) in 43% of the study population, with 29% becoming seizure free. However, this cessation was short term and the seizures relapsed in all but one patient over the longer term
• No other robust evidence on the role of immunoglobulins or corticosteroids in the treatment of children with drug-resistant epilepsies were identified.

Non-pharmacological Management

Ketogenic Diet

• A ketogenic diet is high in fat and low in carbohydrate and aims to induce ketosis
• There are various forms of ketogenic diet, and factors related to the individual child and family lifestyle are used to decide which is the most appropriate
• Information point: discuss options with young people and their families/carers and offer written and verbal information on how to make a ketogenic diet work, for example, choices of meals when eating out
• Information point: signpost to appropriate charities/organisations/peer support/online resources^[B]
• A ketogenic diet:
  • should be offered as a treatment option in children with drug-resistant epilepsy [R]
  • after a child has failed to respond to two AEDs [R]
  • should be tried for at least 3 months to assess efficacy, with consideration of continuation based on risk and benefits at each visit and after 2 years of continuous use [R]
  • is recommended in children with glucose transporter 1 deficiency syndrome, started as soon as possible after diagnosis [R]
  • should be continued into adulthood (lifelong treatment) in children with glucose transporter 1 deficiency syndrome [✓] 
  • could be considered as a treatment option, as early as possible, for children with pyruvate dehydrogenase complex deficiency, ideally as part of a clinical trial with monitoring [R]; if successful, it should be continued into adulthood [✓] 
  • could be considered as a treatment option for children with drug-resistant myoclonic–atonic epilepsy [R]; it should be started early and tried for at least 3 months to assess efficacy, with consideration of stopping after 2 years [✓] 
  • could be considered as a treatment option for infants and children with infantile spasms who have not responded to standard treatment [R]; it should be tried for at least 3 months to assess efficacy, with consideration of stopping after 2 years [✓] 
  • could be considered as a treatment option in children with drug-resistant Dravet syndrome [R]; it should be tried for at least 3 months to assess efficacy, with consideration of stopping after 2 years. [✓] 

Surgery For Drug-resistant Epilepsy

• Children with drug-resistant epilepsy who fulfil referral criteria for assessment for surgery should be identified early [R]
• Children who are candidates for surgery should be referred to a comprehensive epilepsy surgery programme. [✓] 

Vagus Nerve Stimulation

• Vagus nerve stimulation could be considered as an adjunctive treatment for children with drug-resistant epilepsy who are not candidates for surgery, under the specialist guidance of a consultant paediatric neurologist. [R]

Deep-brain Stimulation

• Further research into deep-brain stimulation in a paediatric population is required before recommendations for its use can be made.

Cognitive, Developmental, and Psychiatric Comorbidities

• Information point: allow sufficient time to discuss the following issues:
  • perceived stigma and how patients view their epilepsy
  • memory issues
  • mood/anxiety disorders
  • maintaining mental wellbeing
  • self-esteem
  • the availability of counselling/support from both healthcare professionals and support groups for young people with epilepsy
• Signpost young people and their families to appropriate charities, peer support opportunities, and online resources.^[B]

Neurodevelopmental Disorders

• The prevalence of neurodevelopmental disorders is higher in children and adolescents with epilepsy
• In some epilepsy syndromes autistic spectrum disorder (ASD) symptoms may overlap with the phenotype of the epilepsy condition, for example, the linguistic and social regression observed in Landau–Kleffner and West syndromes
  • a diagnostic assessment, alongside a profile of the individual’s strengths and weaknesses, carried out by a multidisciplinary team which has the skills and experience to undertake the assessments, should be considered as the optimum approach for individuals suspected of having ASD [R]
  • given the higher prevalence of ASD in this population, clinical assessment of children with epilepsy should incorporate a high level of vigilance for features suggestive of ASD, in the domains of social interaction and play, speech, language and communication difficulties, and behaviour [✓] 
  • the same screening tools can be used to assess ASD in at-risk children with epilepsy as those who do not have epilepsy. However, caution should be exercised in interpreting these tools and they should only be used in conjunction with a detailed developmental history [✓] 
• There is a strong association between epilepsy in children and adolescents and developing attention–deficit hyperactivity disorder (ADHD), even when socioeconomic, perinatal and family history factors are taken into consideration
  • in children and young people with epilepsy, the same screening measures can be used to identify those at risk of ADHD as those used with the general population. However, caution should be given to their interpretation and should be used in association with information from other sources, including a detailed developmental history and parental report of their child’s symptoms [✓] 
  • if, on the basis of preliminary assessment, it is suspected that a child or young person has ADHD associated with significant impairment, referral for specialist assessment by a child and adolescent mental health clinician or paediatrician with a specialist interest in this field is recommended. [✓] 

Neurocognitive/academic Outcomes

• Healthcare professionals should be aware that all children and young people with epilepsy are at increased risk of cognitive and academic impairments, even those with epilepsies considered to be more benign or well controlled [R]
• Healthcare and education professionals should seek information about the child or young person’s cognitive function and educational attainment. At regular intervals, educational attainment should be obtained (via school reports or curriculum-based assessments where possible) [✓] 
• Where there is evidence that a child with epilepsy is not making appropriate academic attainments or is presenting with difficulties in cognitive functioning, healthcare professionals should first liaise with education professionals (including educational psychology and learning support staff) to discuss supports in place. [✓] 

Psychiatric Comorbidity

• Healthcare professionals should routinely enquire about depression and anxiety symptoms in all children and young people with epilepsy [R]
• Healthcare professionals should consider using brief screening measures of mood and anxiety symptoms when concerns are identified. These should be administered to the child or young person where possible (and not rely solely on parent or carer proxy measures) [✓] 
• Although not specifically validated in children with epilepsy, screening tools such as Children’s Depression Inventory, Child Behavior Checklist, and Multidimensional Anxiety Scale for Children could be considered [✓] 
• Where screening identifies risk of psychiatric disturbance, referral to the appropriate mental health services for specialist diagnostic assessment and, where recommended, treatment should be considered. [✓] 

Management of Psychological, Psychiatric, Social, and Cognitive Comorbidities

• Cognitive behavioural therapy focusing on depression could be considered in children and adolescents with epilepsy and comorbid depression [R]
• Treatment with selective serotonin reuptake inhibitors could be considered in children and adolescents with epilepsy and comorbid depression [R]
• Methylphenidate could be considered as a first-line medication in the management of ADHD in children and adolescents with comorbid epilepsy [R]
• Prior to and following initiation of methylphenidate, children and young people with ADHD and comorbid epilepsy should be monitored for any change in seizure frequency and severity, seizure control, and anxiety disorders. This should be recorded (for example through the use of a seizure log). [✓] 

Transition

• Information point: when moving from child to adult services, ensure the young person and their families/carers are aware of the following:
  • what will happen
  • when this will happen
  • who will be involved and support the move, for example, an epilepsy nurse specialist
• Paediatric services providing care to children and young people should consider the use of a planned, structured, educational approach directed at both patients and carers, to help prepare young people with epilepsy for the move to adult healthcare services. This could include: [R]
  • educating both parents and young people on epilepsy
  • education regarding lifestyle management and self-management of health, for example, how to make an appointment, order a prescription, know the names of the doctors involved in their care, as well as age-appropriate advice regarding sexual health, drugs, and driving
  • gender-appropriate advice, for example, contraception whilst on AEDs
  • one-to-one meetings with a healthcare professional/specialist nurse
  • direction to web-based resources following a one-to-one conversation, with transition and specific condition advice
  • an explanation of the differences between adult and paediatric care
• And ideally would: [R]
  • be individualised to the young person’s needs and preferences 
  • be co-ordinated between paediatric and adult services
  • include regular and meaningful review of the effectiveness of services
• Transition would ideally be followed up jointly by paediatric and adult health services over a longer time period while the young person is within adult healthcare services [✓] 
• Transition would ideally be measurable and evaluated before and after handover to adult services. [✓] 

Mortality

• Information should be provided to children/young people and families/carers on the risks and safety issues associated with a diagnosis of epilepsy, as near to diagnosis as possible [✓] 
• Risks (including sudden unexpected death in epilepsy [SUDEP]) and safety issues should be discussed periodically with children/young people and families/carers at follow-up visits with healthcare professionals, and additionally when an identified risk of morbidity and/or mortality is assessed to be higher [✓] 
• At or around the time of diagnosis healthcare professionals caring for children and young people with epilepsy should: [R]
  • have a face-to-face discussion about SUDEP with families/carers and young people
  • provide written information to reinforce information provided face to face
• The information should describe: [R]
  • what SUDEP is
  • the risk factors associated with SUDEP and measures that can be taken to reduce risk
  • where to find further information and sources of support
• Allow sufficient time to discuss the availability of counselling/specialist support, both from healthcare professionals and support groups for parents, family, or carers who have been bereaved [✓] 
• If there is a risk of SUDEP, healthcare professionals should discuss the advantages and disadvantages of the use of listening devices, nocturnal supervision, or sharing the same bedroom with young people, their families, and carers. [✓] 

Footnotes

[A] Refer to section 10.3 of the full guideline for a checklist of provisional information, which gives examples of the information patients/carers may find helpful at the key stages of the patient journey. The checklist was designed by members of the guideline development group based on their experience and understanding of the evidence base. The checklist is neither exhaustive nor exclusive

[B] Refer to section 10.4 of the full guideline for sources of further information