PKS Kids Family Weekend Friday, June 25, 2010 Francis Filloux, MD Meghan Candee, MD MS Division of Child Neurology, Department of Pediatrics, University of Utah Talking Points Introduction Background on PKS Current Research Project Findings Thus Far Looking Ahead Background What we know
Diagnostic Criteria i12p tetrasomy Craniofacial findings Learning impairment Seizures (40% of 67 cases) Challenges Desire to know more Previous 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? Recent summary. 2010 Cerminara and colleagues Reported two children with PKS and lateonset spasms Provided detail on these two children Case histories EEG information
Summarized previous reports from the literature that described seizures in PKS specifically Summary 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 Summary of previous reportsseizure medications used No information about which were most helpful Chemical name Brand name No. children using Valproic acid Topiramate
Carbamazepine Vigabatrin Depakote Topamax Tegretol, carbatrol Sabril 6 5 3 3 One each used: oxcarbazepine, vitamin B6, lamotrigine, clobazam, clonazepam, ethosuximide. Cerminara et al. J Child Neurol 25:238, 2010 Current 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) Current Research--Methods Patient selection/exclusion Consents Surveys Onset, Medical timing, frequency, triggers, therapies
record release forms Neurology EEGs MRIs reports Preliminary Findings-Selected Patient Characteristics Total number of subjects Practice Interview Questionnaire Mean Age at time of study Median age at time of study Total number diagnosed with seizures Mean Age at Seizure Onset Median Age at Seizure Onset Percent with history of status epilepticus
Convulsive Infantile Spasms Brief Staring Episodes Most helpful antiepileptics Most helpful medications (of those used by at least 3 children) Chemical name Brand Name Levetiracetam Zonisamide Clonazepam Vitamins (+) Lamotrigine Oxcarbazepine Valproate
Topiramate Keppra Zonegran Klonopin -Lamictal Trileptal Depakote Topamax No. Children Used 6 3 3 3 7 4 9 8
No. of times most helpful 3 1 1 1 2 1 2 1 Percent successful 50% 30% 30% 30% 29% 25% 22% 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. Antiepileptics which were never most helpful Never most helpful medications Chemical Name Brand Name No. Children Trying Medication Phenytoin Phenobarbital Carbamazepine Clobazam Gabapentin Nitrazepam
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 Preliminary 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. Looking Ahead Meeting with Families tomorrow Continued Data Collection consents, surveys, med record release forms By USPS or email
Upcoming 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! Special Thanks Kate Hettiger PKS Kids Dr. John Carey Dr. Ian Krantz Contact Information: [email protected][email protected]
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