Family Education and Support
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- Shon McCoy
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1 Family Education and Support
2 Key Topics First Aid Seizure Safety Sports Physical Activity Driving Familial Psychosocial Needs in Treating Pediatric Epilepsy
3 Poll Question 1 Which of the following is not an appropriate action for first aid when someone is having a seizure? a) Remove sharp objects from the immediate surroundings of the patient b) Turn the patient on his/her side with the mouth facing towards the ground c) Try to stop the movements by using restraints on the extremities d) Administer the prescribed seizure rescue medication
4 Poll Question 2 A 17-years-old female presented with h/o 2 events consistent by description with GTCS. When asked, she also reported having some occasional jerks of the hands and shoulders. Her neurological exam and brain MRI were normal. A sleep deprived EEG showed photparoxysmal response and bursts of high amplitude, generalized, polyspike-wave discharges. She has been seizure free on well-tolerated levetiracetam for 4 months, and has requested you to provide a letter clearing her to drive. Which of the following is the next best step? a) Clear her to drive b) Deny such a letter, as this is not a medical issue c) Review local motor vehicle laws and act accordingly d) Refer her to legal department of your local hospital
5 Role of the Primary Care Team Create a seizure safety plan and to know the basics about how to partner with families to choose and administer a rescue medication if needed Know the basic common sense instructions for safety while the seizures are not controlled with caveats that the advice might feel restrictive so to find positives
6 Role of the Primary Care Team Know state law for driving with epilepsy Know a couple of resources such as Epilepsy Foundation or Parent-2-Parent to give as information and support Be aware that kids with epilepsy might be at increased risk for mental health and learning disorders. Address as a priority during the first visit and explore more at future visits
7 First Aid When Someone is Having a Seizure Stay calm and stay with the person until the seizure is over Pay attention to the time of the seizure Discuss importance on not relying on estimate of time Noting time seizure stopped Prevent injury by removing nearby objects Especially sharp objects and objects that may fall on the individual Wandering/confused patients should be guided away from harm(e.g. traffic)
8 First Aid When Someone is Having a Seizure Be sure the person is comfortable Sit the person down in a safe place or guide to the floor if falling Support the head to keep it from hitting the floor If lying down, turn the person to the side with the mouth toward the ground Be supportive Keep onlookers away Once they are able to communicate, explain in simple terms what happened Offer to stay with the person or call someone to be with them
9 DO NOT Restrain the person Stopping the person s movements won t stop the seizure and can cause injuries If they are restrained when they are confused, they may react aggressively If a person tries to walk around, let them walk in a safe, enclosed area if possible Insert anything in the person s mouth Do not put any object in the mouth: explain that one can t swallow his/her tongue during a seizure Do not give water, pills, or food until fully alert Oral dissolving clonazepam/buccal or intranasal midazolam or benzodiazepine intensol solution is ok if prescribed Source:
10 Call Emergency Medical Services If The seizure lasts over 5 minutes- (Keep in mind that seizures often have a post-ictal phase that may be different from baseline activity) Seizures occur back-to-back without recovery Seizures occur closer together than usual for the person Breathing becomes difficult or the person is choking The seizure occurs in water Injuries may have occurred The person asks for medical help First time seizure in public place, with no one to help Source:
11 Seizure Safety Epilepsy can be a challenge for maintaining independence, participating fully in activities, and social interactions Public safety vs. psychosocial impact Parents report disability due to restrictions in 83% of children with active epilepsy Perceived disability when a doctor recommends restrictions Your words matter!
12 Seizure-Related 198 children with newly diagnosed, untreated epilepsy 25 (12%) had an injury, none died 4 (2%) required medical attention 15 at home, 6 at school, 4 outside Seizure type Tonic-clonic 17 Focal (Complex Partial) 4 Myoclonic 1 Uncertain 3 Absence 0 Source: Epilepsia Jul;43(7): Seizure-related injuries in children with newly diagnosed and untreated epilepsy. Appleton RE1; Mersey Region Pediatric Epilepsy Interest Group.
13 Seizure-Related 83 % of parents of 122 children with epilepsy report that their child was disabled by restrictions suggested/imposed by physicians in order to prevent seizure-related injuries Most restrictions were: Swimming Bicycling Staying overnight with friends Source: Epilepsia Jul;43(7): Seizure-related injuries in children with newly diagnosed and untreated epilepsy. Appleton RE1; Mersey Region Pediatric Epilepsy Interest Group.
14 Prevention of Complications: HEAT SOURCES People with uncontrolled seizures must be careful around all heat sources Microwave cooking is the safest Cook on a back burner; electric safer than flame Set the maximum hot water temperature in the house to 110 degrees Fahrenheit Put guards on open fireplaces, wood stoves, and radiators Don t smoke or use matches when alone Source:
15 Prevention of Complications: HEIGHTS If seizures are not controlled, avoid working on ladders or unprotected heights Use a safety harness if feasible Be cautious with stairs if seizures not controlled Keep common household items on all floors of the house to avoid having to use the stairs as often Source:
16 Prevention of Complications: SAFETY PROOF THE ENVIRONMENT Arrange the home, work, study places to be safe Pad sharp corners, avoid glass tables Use non-slip carpet Avoid throw rugs Put barriers in front of fireplaces or hot stoves For those who wander during the seizure Special caution to heights, rails, bodies of water Shut the door when home alone Be sure a neighbor or friend has a key to get in to check on the person For those with frequent falls Wear a protective helmet Source:
17 Sports YES!!! Encourage patients to participate! Contact sports are not precluded There is no evidence they induce seizures Swimming and water sports, harnessed rock climbing, horseback riding, and gymnastics Safe with appropriate supervision Free climbing, sky diving, hang-gliding, and scuba diving Not safe Source: Joshi & Shellhaas,
18 Driving Driving is not permitted when seizures are not controlled State laws differ as to when an individual with epilepsy can drive Know your state s laws about: Driving with epilepsy Physician reporting (PA, CA, DL, NV, NJ, OR) Good resource: If a parent of child with epilepsy has epilepsy, check if the parent is driving Source: Joshi & Shellhaas, 2014
19 Seizure Management Plan All caregivers should have the person s seizure management plan and be trained in the first aid measures used during/after a seizure The plan should include: Seizure description Rescue medication VNS activation Source: The Epilepsy Foundation website
20 Poll Question 1- ANSWER Which of the following is not an appropriate action for first aid when someone is having a seizure? a) Remove sharp objects from the immediate surroundings of the patient b) Turn the patient on his/her side with the mouth facing towards the ground c) Try to stop the movements by using restraints on the extremities d) Administer the prescribed seizure rescue medication
21 Poll Question 2- ANSWER A 17-years-old female presented with h/o 2 events consistent by description with GTCS. When asked, she also reported having some occasional jerks of the hands and shoulders. Her neurological exam and brain MRI were normal. A sleep deprived EEG showed photparoxysmal response and bursts of high amplitude, generalized, polyspike-wave discharges. She has been seizure free on well-tolerated levetiracetam for 4 months, and has requested you to provide a letter clearing her to drive. Which of the following is the next best step? a) Clear her to drive b) Deny such a letter, as this is not a medical issue c) Review local motor vehicle laws and act accordingly d) Refer her to legal department of your local hospital
22 01 Claude Bernard and pupils, 1889 Credit: Wellcome Library, London
23 Case 1 Age/Sex 6 years/male Chief Complaint Sleep disturbance Onset 2 weeks back; first noted in the car during a family road trip Heavy/erratic breathing and slow body movements of torso, arms, and legs. Sometimes associated with lip tightening. Eyes closed and no gaze deviation. Events No tonic/clonic movements, incontinence, stiffening, apnea/cyanosis, drooling. Events usually last no more than 5-10 seconds. Parents are not sure about the frequency. There is no history of snoring. No obvious triggers. No recent medication changes. No recent falls. No other events in semiology < 3 >
24 Case 1 Birth Hx Developmental Hx Immunization Medications Allergies Past History Surgical History Family History Social History FT, home delivery due to short duration of labor; Cried immediately, part of umbilical cord slightly snug Normal gross motor, fine motor, and language skills Language sector: Parents think him to be slightly delayed for age. Not in therapies. No regression Immunized for age Not on mediations No allergies Seasonal allergies? No hx of seizures, head trauma, abuse. None Father - Korean. Mother - Caucasian No neurological disorders in the family No siblings. Both parents work No pets Examination Normal general and detailed neurological examination Normocephalic; non-dysmorphic < 4 >
25 Differentials 01 Work-up
26 EEG Routine EEG Normal EEG for age. Awake and N1 sleep stages were captured. MRI 01 Right cerebellar ectopia There are a few scattered punctate foci of T2 prolongation, nonspecific but likely areas of gliosis. Sinus disease OSH: Not available for review
27
28 EPILEPTIC CHANNELOPATHIES next 8
29 Follow up 6 months Increased frequency of nocturnal spells but no change in semiology Noticed multiple times (10-12/night) No daytime episodes No snoring Drowsy during daytime (noticed both at home and school) Difficult to wake up in the morning 01 Worsening of speech deficits Now enrolled in ST
30 Video extended polysomnographic study This EEG is normal. No clear epileptiform discharges seen in the background. Several paroxysmal generalized dystonic and body stiffening's were noted in non REM sleep. These were sometimes preceded, accompanied or followed by chewing movements of his jaw. 01
31 Differentials 01 Work-up
32 Review Continuous EEG
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35 Case 1 Sleep Medicine Referral Reviewed EEG / Sleep study Diagnosed with frontal lobe seizures AED initiation Started on CBZ; patient had a good response for few months. Patient was more awake during daytime Patient had increase in spell frequency after 12 months Switched to OXC with some benefit for few months Worsening in 12 months LEV add on therapy with no major change in seizure frequency Switched to ZNS CLB add-on therapy < 15 >
36 Case 1 Referred for Phase I evaluation < 16 >
37 Review EEG
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42 One more thing!
43 ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2
44 ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2
45 Nocturnal 01 Syndrome Frontal Lobe Epilepsy of heterogeneous etiology, characterized by the occurrence of sleep-related seizures with different complexity and duration
46 Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q (CHRNA4) Phillips HA Nat Genet May;10(1):117 8
47 Families with ADNFLE with no association with CHRNA4 Am J Hum Genet Aug;79(2):342 50; Brain Res Bull Oct 30;67(4):257 63; Nat Genet May;45(5):546 51; Nat Genet Nov;44(11):
48 Nocturnal Frontal Lobe Epilepsy Genetics CHRNA4 Chromosome 20q13.2 CHRNB2 Chromosome 1q21.3 CHRNA2 Chromosome 8p21 CRH Chromosome 8q KCNT1 Chromosome 9q34.3 DEPDC5P Chromosome 22q12 Am J Hum Genet Aug;79(2):342 50; Brain Res Bull Oct 30;67(4):257 63; Nat Genet May;45(5):546 51; Nat Genet Nov;44(11):
49 Genetic Etiology 01 CHRNA4 CHRNB2 CHRNA2 CRH KCNT1 DEPDC5P Unknown Symptomatic FCD Type II
50 Monogenic disorders of human nicotinic acetylcholine receptor genes CHRNA1 2q31.1 Congenital myasthenic syndrome (slow-channel), OMIM Congenital myasthenic syndrome (fast-channel), OMIM Lethal multiple pterygium syndrome, OMIM CHRNA2 8p21.2 Nocturnal frontal lobe epilepsy, type 4, OMIM CHRNA4 20q13.33 Autosomal dominant nocturnal frontal lobe epilepsy, type 1, OMIM CHRNA7 15q q13.3 microdeletion syndrome, OMIM CHRNB1 17p13.1 Congenital myasthenic syndrome (slow-channel), OMIM Congenital myasthenic syndrome associated with acetylcholine receptor deficiency, OMIM CHRNB2 1q21.3 Nocturnal frontal lobe epilepsy, type 3, OMIM CHRND 2q37.1 CHRNE 17p13.2 CHRNG 2q37.1 Lethal multiple pterygium syndrome, OMIM Congenital myasthenic syndrome (fast-channel), OMIM Congenital myasthenic syndrome (slow-channel), OMIM Congenital myasthenic syndrome associated with acetylcholine receptor deficiency, OMIM Congenital myasthenic syndrome (fast-channel), OMIM Congenital myasthenic syndrome (slow-channel), OMIM Congenital myasthenic syndrome (slow-channel), OMIM Escobar syndrome, OMIM Lethal multiple pterygium syndrome, OMIM Schaaf C, Genet Med. 2014;16(9):
51 Nocturnal Frontal Lobe Epilepsy Clinical Findings 12 y Age of onset 1-58 years (mean 12±10) 34 % Other sleep issues sleep-talking, enuresis, head banging and sleep-walking 7 : 3 Gender Male : F 34 % Daytime seizure occasional seizures during wakefulness, similar to the seizures during sleep 3.3 Seizure per night 72 % 3±3 attacks each night Not aware of events Not aware of their nocturnal motor manifestations 28% Different type of episodes Different nocturnal episodes resembling secondary generalized seizures 39 % Family History 39% Parasomnias 25% Epilepsy 8% NFLE Nobili L. Curr Neurol Neurosci. 2014;14(2):424. < 36 >
52 Nocturnal Frontal Lobe Epilepsy Event Types Short Lasting 2-4 seconds Stereotypical movements Limbs/axial/head Paroxysmal Arousals 5-10 seconds Sudden brief arousals Associated frightened expressions, fear, & vocalization. Major Attacks seconds Asymmetric tonic or dystonic posturing, or complex movements and ballistic movements of the limbs Nobili L. Curr Neurol Neurosci. 2014;14(2):424. < 37 >
53 Arousal Dis Nightmares REM Behav Dis NFLS Age of Onset Any Gender M=F M=F M>F M>F Family Hx Evolution Disappear Disappear No remission Stable/increase Episodes Sporadic Sporadic Every night Every night Sleep Stage NREM N3 REM sleep REM Sleep NREM N2 Frequency 1/2 1/2 Several Several Stereotypic Motor Movements No No No Yes Duration 1-10 minutes 3-30 minutes 1-2 minutes Secs - 3 minutes Recall on awakening No Yes Yes Not constant Nobili L. Curr Neurol Neurosci. 2014;14(2):
54 Nocturnal Frontal Lobe Epilepsy EEG Findings Interictal Discharges Ictal Discharges 60% Wake Sleep 60% 50% Ictal 45% 45% 37.5% 30% 30% 25% 15% 15% 12.5% 0% Normal Focal Epis Slowing 0% 0% Normal Theta Flattening Delta Fast Nobili L. Curr Neurol Neurosci. 2014;14(2):
55 Nocturnal Frontal Lobe Epilepsy Treatment CBZ OXC TPM Dose 200 1,000 mg HS 20% Seizure free 48% Control >50% seizure 33% No efficacy Failed other AEDs n=8 Mean dose 30.4±11.7 mkd 100% improvement Single or add-on therapy Dose 50 to 300 mg HS 25 % Seizure-free 62.5% Control >50 % Acetazolamide Add on therapy for CBZ Dose 500 mg HS 100% Seizure free Nicotine Patch CHRNA4 mutations n=22 40% improvement Epilepsy Surgery Drug resistant n=21 76 % Seizure-free Nobili L. Curr Neurol Neurosci. 2014;14(2):424. < >
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57 Fainting Goats gcic-1 Chloride Channel Myotonic Dystrophy < 42 >
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