pks kids family weekend friday, june 25, 2010 francis filloux, md meghan candee, md ms division of...
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PKS Kids Family WeekendFriday, June 25, 2010
PKS Kids Family WeekendFriday, June 25, 2010
Francis Filloux, MD
Meghan Candee, MD MSDivision of Child Neurology, Department of Pediatrics, University of Utah
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Talking PointsTalking Points
Introduction Background on PKS Current Research Project Findings Thus Far Looking Ahead
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BackgroundBackground What we know
Diagnostic Criteria i12p tetrasomy Craniofacial findings Learning impairment Seizures (40% of 67 cases)
Challenges Desire to know more
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Previous seizure reports/studiesPrevious seizure reports/studies Limited information
Often incomplete, lacking EEG information Collected differently by different groups
Long term follow-up often not available Tendency to report more severely affected
(or unusual) children Maybe this makes the information look more
negative?
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Recent summary. 2010 Cerminara and colleaguesRecent summary. 2010 Cerminara and colleagues
Reported two children with PKS and “late-onset” spasms
Provided detail on these two children Case histories EEG information
Summarized previous reports from the literature that described seizures in PKS specifically
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Summary of previous reportsSummary of previous reports 14 children with sufficient information to analyze Average age of onset: 3 year of age
Range from “neonatal” to 9.5 yoa. Varied seizure types
Spasms>myoclonic=focal Very variable treatment--most effective not described “Outcome” not described in any detail. No mention of sleep-specific issues
Cerminara et al. J Child Neurol 25:238, 2010
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Summary of previous reports- seizure medications usedSummary of previous reports- seizure medications used
No information about which were most helpful
Chemical name Brand name No. children using
Valproic acid Depakote 6 Topiramate Topamax 5
Carbamazepine Tegretol, carbatrol 3 Vigabatrin Sabril 3
One each used: oxcarbazepine, vitamin B6, lamotrigine, clobazam, clonazepam, ethosuximide.
Cerminara et al. J Child Neurol 25:238, 2010
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Current Research ObjectivesCurrent Research Objectives Characterizing Seizures in PKS Goals
Earlier recognition of seizures/seizure-like spells
Better parent education & anticipatory guidance
Improved understanding of cause(s), effect(s) & treatment(s)
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Current Research--MethodsCurrent Research--MethodsPatient selection/exclusion ConsentsSurveys
Onset, timing, frequency, triggers, therapies
Medical record release forms Neurology reports EEGs MRIs
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Preliminary Findings--Selected Patient CharacteristicsPreliminary Findings--Selected Patient Characteristics
Total number of subjects 34 Practice 4 (12%) Interview 10 (29%) Questionnaire 20 (59%)Mean Age at time of study 6 years 4 monthsMedian age at time of study 4 years 6 months
Total number diagnosed with seizures20
Mean Age at Seizure Onset 2 years 8 monthsMedian Age at Seizure Onset 2 years 3 monthsPercent with history of status epilepticus
7 (35%)
Percent taking anti-epileptic medications
9 (45%)
Percent taking >1 anti-epileptic medications
2 (10%)
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Preliminary Findings--Seizure PrevalencePreliminary Findings--Seizure Prevalence
29%
12%
59%
Diagnosed Suspected None
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Preliminary Findings--Seizure TimingPreliminary Findings--Seizure Timing
26%
68%
0%
10%
20%
30%
40%
50%
60%
70%
Day Night Both
5%
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Preliminary Findings--Common Seizure TypesPreliminary Findings--Common Seizure Types
50%
45%
30%
15%
0%
5%
10%
15%
20%
25%
30%
35%
40%
45%
50%
Myoclonic GeneralizedConvulsive
InfantileSpasms
Brief StaringEpisodes
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“Most helpful” antiepileptics “Most helpful” antiepileptics
Most helpful medications (of those used by at least 3 children)
Chemical name Brand Name No. Children Used
No. of times “most helpful”
Percent successful
Levetiracetam Keppra 6 3 50% Zonisamide Zonegran 3 1 30% Clonazepam Klonopin 3 1 30% Vitamins (+) -- 3 1 30% Lamotrigine Lamictal 7 2 29%
Oxcarbazepine Trileptal 4 1 25% Valproate Depakote 9 2 22%
Topiramate Topamax 8 1 12.5%
Vigabatrin, Stiripentol each used by one child and deemed “most helpful.” Diet (ketogenic) used by two children and deemed “most helpful” by one.
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Antiepileptics which were never “most helpful”Antiepileptics which were never “most helpful”
“Never” “most helpful” medications
Chemical Name Brand Name No. Children Trying Medication
Phenytoin Dilantin 2 Phenobarbital -- 2
Carbamazepine Tegretol,carbatrol 2 Clobazam Frisium 2
Gabapentin Neurontin 1 Nitrazepam -- 1
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Preliminary ResultsPreliminary Results• Most common seizure types:
• myoclonic (10/20, 50%)• generalized convulsive (9/20, 45%)• infantile spasms (6/20, 30%)• brief staring episodes (3/20, 15%)
• Seven of the 20 patients with seizures (35%) had >1type.
• Six of the 20 patients diagnosed with seizures (30%) were seizure free on medication, while only 2 (10%) were in remission.
• Among interviewed subjects, 50% had paroxysmal events of uncertain etiology, most of which were associated with sleep disturbance
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Preliminary ConclusionsPreliminary Conclusions
• 88% of these PKS children exhibited seizure-like events. Definitive diagnosis was not always possible.
• Onset in early childhood was typical, but only one child presented with neonatal seizures.
• Paroxysmal disorders, often related to sleep, appear common.
• Relatively few of the children had experienced status epilepticus requiring emergency room visits or intractable epilepsy requiring hospitalization.
• Further study of this group of children may yield further insights into the seizure characteristics of PKS.
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Looking AheadLooking Ahead
Meeting with Families tomorrow Continued Data Collection
consents, surveys, med record release forms By USPS or email
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Upcoming Meetings/EventsUpcoming Meetings/Events
University of Utah Pediatrics Research Conference--June 28, 2010
Child Neurology Society Meeting--October 2010
Potential for additional research projects PKS Family Weekend 2011!
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Special ThanksSpecial Thanks
Kate Hettiger PKS Kids Dr. John Carey Dr. Ian Krantz Contact Information: