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. 2022 May 12;63(7):1761–1777. doi: 10.1111/epi.17274

TABLE 3.

Comorbidities, development, vaccination recommendations, and transition

Development
  • Development is usually normal prior to 18 months of age, although subtle delays may be appreciated prior to that time in a minority of cases (PHYSICIANS: n = 20, 90%; caregivers : n = 10, 70%).
  • Subtle delays are typically evident between 18 and 36 months (PHYSICIANS: n = 19, 100%; caregivers : n = 9, 78%).
  • Intellectual disability (developmental quotient < 70) is present in most children aged 3 year and older (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 89%).
  • Degree of intellectual disability worsens with time, with most young adults having moderate to severe intellectual disability (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 89%).
  • Most children exhibit stagnation (lack of or slower progression) as opposed to true regression (loss of skills; PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 89%).
  • Encephalopathy and regression can occur following a bout of prolonged febrile status epilepticus in a minority of cases (PHYSICIANS: n = 19, 100%; caregivers : n = 9, 78%).
  • Social skills are better preserved than communication skills (PHYSICIANS: n = 18, 83%; caregivers: n = 9, 44%).
  • The following factors are correlated with poor developmental outcome:
    1. Younger age at onset of DS (PHYSICIANS: n = 18, 89%; caregivers : n = 9, 78%)
    2. Greater number of convulsive status epilepticus (>30 min) episodes (PHYSICIANS: n = 19, 95%; caregivers : n = 9, 78%)
    3. Greater duration of longest convulsive status epilepticus event (PHYSICIANS: n = 17, 82%; caregivers : n = 9, 78%)
    4. Longer use of contraindicated medications (i.e., sodium channel blockers including lamotrigine) in early life (PHYSICIANS: n = 18, 83%; CAREGIVERS: n = 8, 100%)
    5. Delay in use of optimal therapies (PHYSICIANS: n = 18, 83%; caregivers : n = 9, 78%)
    6. Appearance of absence and/or myoclonic seizures in the first year of life (PHYSICIANS: n = 16, 94%; CAREGIVERS: n = 7, 86%)
    7. Appearance of tonic seizures (physicians: n = 14, 57%; caregivers a : n = 4, 75%)
    8. Higher frequency of interictal discharges on EEG if the first year of life (PHYSICIANS: n = 14, 82%; caregivers a : n = 2, 100%)
    9. Early motor delay ( physicians : n = 19, 74%; caregivers: n = 9, 56%)
    10. Greater number or longer episodes of nonconvulsive status epilepticus (physicians: n = 17, 59%; caregivers : n = 8, 75%)
    11. Specific types of SCN1A variants (physicians: n = 18, 28%; caregivers: n = 7, 57%)
Attention problems, autism, and behavior problems
  • Attention problems are present in most school‐aged children and teens with DS (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 100%).
  • Stimulant medications are safe to use in persons with DS with significant attention problems (PHYSICIANS: n = 18, 94%; caregivers a : n = 2, 100%).
  • Stimulant medications are effective in persons with DS with significant attention problems ( physicians : n = 17, 76%; caregivers a : n = 3, 67%).
  • Internalizing behaviors (depression, anxiety) are seen in a minority of preschool children but become more common with age and are present in more than half of adults (PHYSICIANS: n = 18, 83%; CAREGIVERS: n = 8, 100%).
  • Externalizing behaviors (aggression, impulsivity) are seen in more than half of persons at the following ages:
    1. Preschool children (physicians: n = 18, 56%; CAREGIVERS: n = 7, 86%)
    2. School‐aged children ( physicians : n = 18, 67%; CAREGIVERS: n = 7, 86%)
    3. Teens (physicians: n = 18, 61%; CAREGIVERS: n = 7, 86%)
    4. Adults (physicians: n = 13, 46%; caregivers: n = 7, 43%)
  • Prevalence of autistic features in children with DS:
    1. Preschool children: physicians : n = 18, 72% stated prevalence of autistic features was <50%; CAREGIVERS: n = 9, 89% stated prevalence of autistic features was >50%.
    2. School‐aged children: physicians : n = 19, 68% stated prevalence of autistic features was <50%; CAREGIVERS, n = 8, 100% said prevalence of autistic features was >50%.
  • Children with DS are at risk of autism spectrum disorder and concerns may be more apparent to parents/caregivers than neurology providers. Providers should query families for these concerns at regular follow‐up visits (PHYSICIANS: n = 19, 84%; caregivers: n = 8, 60%).
  • Less than half of preschool and school‐aged children with DS have undergone a formal evaluation for autism (PHYSICIANS: n = 18, 83%; CAREGIVERS: n = 8, 100%).
  • Current resources limit the number of at‐risk children who undergo formal evaluation for autism, leading to probable underdiagnosis of autism in DS (PHYSICIANS: n = 19, 89%; caregivers : n = 10, 70%).
Gait problems and parkinsonian features
  • Gait abnormalities including ataxia or crouch gait are noted in approximately half of school‐aged (age 6–11 years) children with DS (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 89%).
  • Gait abnormalities are seen in the majority of teens and young adults with DS (PHYSICIANS: n = 18, 100%; CAREGIVERS: n = 9, 100%).
  • Parkinsonian features including bradykinesia, rigidity, parkinsonian gait (stooped, stiff, unsteady), and postural instability are seen in a majority of adults with DS; however, resting tremor is typically absent (PHYSICIANS: n = 13, 92%; CAREGIVERS: n = 7, 86%).
  • Therapies prescribed for gait disorders:
    1. Physiotherapy and/or occupational therapy prescribed by 12/18 physicians and used by 6/8 caregivers. Median benefit reported by physicians was 5 and by caregivers was 6, on a scale of 1–9, where 1 is no benefit and 9 is marked benefit.
    2. Sinemet (physicians: only 6 had ever tried Sinemet and only 4 treated more than 5 patients. Of physicians who had tried Sinemet, median reported benefit was 5 on a scale of 1–9).
Speech
  • Most/all children with DS should be routinely referred for speech assessment and therapy (PHYSICIANS: n = 19, 79%; CAREGIVERS: n = 8, 88%).
  • Speech therapy is at least moderately beneficial for teens and adults with DS (physicians: n = 15, median score of 6 on a scale of 1–9; caregivers: n = 9, median score of 7 on a scale of 1–9).
Sleep problems
  • Sleep problems are seen in a majority of persons with DS and can include increased nocturnal wakening, snoring, insomnia, and/or excessive daytime somnolence (PHYSICIANS: n = 19, 100%; CAREGIVERS: n = 10, 90%).
  • Questions regarding sleep should be routinely asked as part of continuing care of a person with DS (PHYSICIANS: n = 19, 100%; CAREGIVERS: n = 8, 100%).
  • A formal sleep study should be considered if a clinical history of a possible sleep disorder is obtained (PHYSICIANS: n = 18, 89%; caregivers : n = 8, 75%).
  • Attention to sleep hygiene is important in managing sleep problems associated with DS (PHYSICIANS: n = 19, 100%; caregivers: n = 10, 60%).
  • Melatonin may be considered for persons with difficulty with initiating and maintaining sleep, but there are limited data on its efficacy (PHYSICIANS: n = 19, 100%; CAREGIVERS: n = 6, 100%).
  • Benefits of melatonin for sleep:
    1. 18 physicians had experience using melatonin, median efficacy = 6.5 of 9 on a scale of 1–9, where 1 is no benefit and 9 is highly effective.
    2. 6 caregivers had experience with melatonin, median efficacy = 6.5 of 9.
  • Benefits of clonidine for sleep:
    1. 7 physicians had experience using clonidine, median efficacy = 7 of 9.
    2. 3 caregivers had experience using clonidine, median efficacy = 6 of 9.
Autonomic dysfunction
  • Routine cardiac testing is not required for persons with DS ( physicians : n = 19, 79%).
  • There is no consistent therapy that is effective for dysautonomia (PHYSICIANS: n = 11, 82%).
SUDEP
  • Persons with DS have a significant risk of SUDEP. Families must be made aware of this potential risk at diagnosis (PHYSICIANS: n = 19, 100%; CAREGIVERS: n = 9, 100%).
  • Risk of SUDEP will be at least mildly to moderately reduced due to recently approved seizure medications that have shown improved efficacy for DS (PHYSICIANS: n = 16, 88%; caregivers: n = 6, 50%)
  • Use of monitoring devices for seizures:
    1. 68% of physicians did not routinely recommend the use of seizure monitoring devices for their patients with DS, but 74% would support a family's request for such a device.
    2. 31% of physicians reported that >50% of their patients used a seizure monitoring device.
    3. 67% of caregivers reported that >50% of persons with DS used a seizure monitoring device.
    4. Effectiveness of monitoring devices for seizure detection was rated by physicians (n = 15) as 6 (IQR = 5–7) and by caregivers (n = 8) as 7 (IQR = 6–9) on a scale of 1–9, where 1 is ineffective and 9 is highly effective.
  • There was no consensus among physicians or caregivers that any particular monitoring device was more efficacious than another.
Vaccinations
  • Persons with DS should receive all routine vaccinations (PHYSICIANS: n = 19, 84%; caregivers : n = 9, 78%).
  • Persons with DS should receive an annual influenza vaccination ( physicians : n = 19, 79%; caregivers : n = 9, 78%).
  • Routine use of antipyretic medication around vaccinations should be considered to reduce likelihood of seizures (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 89%).
  • Routine use of additional antiseizure medication (such as benzodiazepines) around vaccinations should be considered to reduce the likelihood of seizures (physicians: n = 19, 53%; caregivers : n = 9, 67% that this should NOT be done).
  • Persons with DS who are eligible should receive the COVID‐19 vaccination (PHYSICIANS: n = 19, 95%; caregivers : n = 9, 78%).
Transition of care to adult neurology
  • The following factors are key to successful transition to adult care for persons with DS:
    1. Identifying a competent adult provider who understands DS (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 100%)
    2. Clear communication between the pediatric and adult neurology providers around the time of transition (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 100%)
    3. Education of the family with a focus on progressive transition that occurs over a prolonged period, rather than a single transfer of care (PHYSICIANS: n = 19, 89%; CAREGIVERS: n = 8, 100%)
    4. Creation of a detailed transition document by the pediatric provider that summarizes the subject's medical course, comorbidities, and social supports, which is given to the adult provider (PHYSICIANS: n = 19, 95%; CAREGIVERS: n = 9, 100%)
  • The following factors are significant barriers in successful transition to adult care for persons with DS:
    1. Lack of adult providers with expertise in DS (PHYSICIANS: n = 19, 100%; CAREGIVERS: n = 9, 100%)
    2. Reluctance of families to transition as they are very bonded to their pediatric team ( physicians : n = 19, 79%; caregivers: n = 8, 63%)
    3. Lack of appropriate infrastructure in the adult setting to provide holistic care to a young adult with DS (PHYSICIANS: n = 18, 89%; CAREGIVERS: n = 9, 100%)
    4. Limited involvement and/or inclusion of parents/caregivers in care decisions once transition to an adult provider has occurred (physicians: n = 18, 56%; caregivers : n = 7, 71%)

Bold and all‐capital text indicates Strong consensus; bold and italic text indicates Moderate consensus; nonbold and italic text indicates no consensus.

Abbreviations: DS, Dravet syndrome; EEG, electroencephalogram; IQR, interquartile range; SUDEP, sudden unexpected death in epilepsy.

a

Consensus was not determined for statements where >50% of the group did not provide a response.