NeurologicComplica/onsinAdultswithI/DD

SethM.Keller,MDsethkeller@aol.com

NursePrac**onerEduca*oninDevelopmentalDisabili*es

WebinarSeries

Outline� Epilepsy� MovementDisorders� GaitDysfunction�  Spasticity� Dementia

EpilepsyinI/DD

STATISTICS�  3%ofthepopulationhasI/DD�  10-20%ofallI/DDindividualshaveepilepsy�  50%ofindividualswithI/DD&CPhaveepilepsy(Morecommonintetraorhemiplegicthandystonicordiplegic)

�  21%ofI/DDwithIQ>50haveepilepsy�  50%ofI/DDwithIQ<50haveepilepsy�  40%ofindividualslivinginlargeresidentialfacilitieshaveepilepsy

Pellock JM, Hunt PA. A decade of modern epilepsy therapy in institutionalized mentally retarded patients. Epilepsy Res.

Gates, Huf, et al. Epilepsy and Behavior,2001,2, 563-567.

Difficul*eswithSeizureCare�  Refractoryepilepticsyndromes� Multipleseizuretypes�  Frequentstatusepilepticusandclusters�  LifelongAEDuse�  Polypharmacy(epilepsyandmedical)�  Side-effectsarefrequentbuthardtodetect�  Side-effecttolerance;statusquo�  Co-occurrencewithchallengingbehaviorsincludingAutism�  Challengesinobtainingdataandcommunication�  Transitioningofcare�  Staffknowledge/training�  Acuteseizurecare

IssuesinDevelopingOp*malPlansforSeizureCare

� Allparoxysmaleventsarenotseizures� Allseizuresarenotdangerous� Notallseizuresarerefractory� Multipledrugsareusuallynotnecessary�  Side-effectsareveryimportant�  Seizuresmaynotbelifelong� Datacollectionandcommunication

�  Seizuretracker.com�  Expectationsfrompatient/families/staff/providers

Differen*alDiagnosisofSeizures� Syncope� Behavior� Toxicity� Pseudoseizures� Panicattacks� Hypoglycemia� Vertigo

EpilepsyTreatmentsTreatment

AEDs

Ketogenic Diet Epilepsy Surgery VNS Therapy

Age

Children Adults

Primarily children Children Adults 12 and older

Indication

Specific AEDs for specific seizure types

All seizure types Pharmacoresistant or localization-related epilepsy Pharmacoresistant epilepsy, partial seizures

Efficacy �64% sz freedom1

54% pts >50% sz reduction at 3 months2

�70% in select patients sz freedom3

43% of pts >50% sz reduction at 3 years4

Side Effects Vary by AED, typically CNS- and endocrine-related

Lipid disorders, ketoacidosis

Cognitive effects, surgery-related risks Voice alteration, cough, pharyngitis, dyspnea

1Brodie MJ, Kwan P. Neurology. 2002;58(suppl 5):S2-S8. 2Vining EP, et al. Arch Neurol. 1998;55:1433-1437. 3Van Ness PC. Arch Neurol. 2002;59:732-735. 4Morris GL III, Mueller WM. Neurology. 1999;53:1731-1735. 5Renfroe JB, Wheless JW. Neurology. 2002;59(suppl 4):S26-S30.

Tonic Tonic-clonic Myoclonic Atonic Infantile

Spasms Absence

Pregabalin, Phenytoin,

Carbamazepine, Phenobarbital,

Gabapentin, Tiagabine,

Oxcarbazepine, Lacosamide

ACTH Vigabatrin Topiramate Zonisimide

Ethosuximide

Valproate, Lamotrigine, Topiramate, Zonisimide Levetiracetam, Felbamate, Rufinamide, Clobazam

Generalized Partial Simple

Complex Secondarily Generalized

An*epilep*cDrugOp*ons

Treatment/Evalua*onSequenceforPharmacoresistentEpilepsy

4%

13%47%

36%

S z - f re e with 1s t A E D

S z - f re e with 2 nd A E D

S z - f re e with 3 rdA E D /P o lythe ra pyP ha rm a c o re s is ta n t

1st Monotherapy AED Trial

2nd Monotherapy AED Trial

Epilepsy Surgery/VNS Therapy/ Neuropace Evaluation

Resective Surgery Stimulator Therapy

3rd Monotherapy/Polytherapy AED Trial

Polytherapy AED Trials

Kwan P, Brodie MJ. NEJM;342:314-319.

Strongly consider videoEEG Monitoring

Epilepsy

Psychogenic, migraine, syncope, sleep disorders, movement disorder’s, etc.

Non-epileptic

Seizure control at what cost?

� Toxicity� Cognitive� Physiologic� Behavioral

� Financialconsiderations

Psychiatric adverse events during levetiracetam therapy M. Mula, MR. Trimble, et al

Neurology. 2003 Sep 9;61(5):704-6

Topiramate and Psychiatric Adverse Events in Patients with Epilepsy

M. Mula, MR. Trimble, et al Epilepsia. 2003 May;44(5):659-63.

BehavioralOutcomeswithElimina*ngSeda*ngAgents

� Improvedalertnessandinteraction

� Improvedmaladaptivebehavior

� Reducedpsychotropicmedicationusage

Poindexter AR, et al. Am J Ment Retard. 1993;98:34-40. Coulter DL. AM J Ment Retard. 1988;93:320-327 Clancy RR et al. Ann Neurol. 1991;30:493.

AcuteSeizureCare�  Recognitionoftheeventandappreciatewhensignificant�  Clusters,StatusEpilepticus,Seizuretypes

�  Firstaid�  UsageofVNSmagnet�  Diastatacudial�  9-1-1�  Firstrespondercare�  EDandhospitalcare�  Documentdetailsoftheevent

SuddenUnexpectedDeathinEpilepsySUDEP

�  Maybethecauseofdeathwhen:�  Ahealthypersonwithepilepsydiessuddenlywithoutdrowningortrauma

�  Thepersonmayormaynothavehadaseizurebeforedeath

�  Nootherreasonfordeathisfounduponexamafterdeath�  Personwasnotusingillegaldrugs(example:cocaine)

�  Persondidnothaveaheartattack

�  SomecommontheoriescausingSUDEPinclude:�  Heartarrhythmias�  Breathingtrouble�  Brainshutdown

�  1outof1,000patientswithepilepsydieunexpectedlyeachyear

�  Inthosewithuncontrolledepilepsy,riskincreasesto1outofevery150people

�  RiskofSUDEPincreaseswhen:�  Seizuresarenotwellcontrolled(treatmentresistantepilepsy)

�  Treatmentresistantepilepsy=failureof2roundsofappropriateandtoleratedseizuremedication�  Treatmentresistantepilepsyiscommoninpatientswithautism

�  Apatientsuffersfromgeneralizedtonic-clonicseizures

�  Seizureshappenatnightwhenthepersonissleeping

MovementDisordersinI/DD

MovementDisordersClassifica*on

� HyperkineticvsAkinetic� Bytypeofmovement;dyskinesia,myoclonic,tremor,dystonia,chorea

� Ageofonset� Acquiredvsgenetic� Behaviorvsorganic

ExtrapyramidalEffects� TardiveDyskinesia� Akathisias� Parkinson’s� DystonicRx

0.5%-56% TD in long term usage of Neuroleptics

JournalofIDD,June2008;33(2):171-176

Management� Stopoffendingagent� Switchagent� Reducedosage� AddBenztropine,Diphenhydramine� L-DopaTherapy

GaitDysfunc/onandSpas/cityinI/DD

NormalvsPathologicChangesofGaitinAdultswithIDD

� Whatisbaselineandwhydidpastdysfunctionoccur?

� Whatnormalagingchangesareexpected?� Howtodiscernpathologicchanges� Whataretherisksandcomplicationsofalteredgaitandspasticity?

AbnormalGaitandIDD� Pain�  ImpairedJointMobility(arthritis,contractures)� Muscleweakness(Spinabifida,lowtone)� Spasticity(stroke,cordlesion,CerebralPalsy)� Sensory/balancedeficit(neuropathy,stroke,vision,vestibular)�  Impairedcentralprocessing(dementia,stroke,delirium,drugs)� CognitiveImpairment� Syndromespecific(Downsyndrome,FASD,FragileX)

ConsequencesofGaitDysfunc*on� Falls

�  Injury,fracture,CHI,hospitalizations� Pain� Osteoporosis� Riskstoskinintegrity,cardiopulmonarysystem� DVT’s/PE’s� ADL’s� QOL/Independence�  Impactuponcareteam

UpperMotorNeuronSyndromeAgroupofsymptomsthatmaybecausedbydamageorinjury

tomotorneuronpathwaysorbrainregionsthatcontrolmovement2,3

2 Katz RT, Rymer WZ. Spastic hypertonia: mechanisms and measurement. Arch Phys Med Rehabil 1989; 70:144-55 3 O'Brien CF, Seeberger LC, Smith DB. Spasticity after stroke. Epidemiology and optimal treatment. Drugs Aging 1996; 9:332-40 4 Young RR ,Wiegner AW. Spasticity.ClinOrthop Relat Res 1987; 50-62

PositiveSymptoms4 Negative Symptoms4

Characterization Muscleoveractivity Muscleunderactivity

Examples Spasticity,clonus,flexor/extensorspasm,hyper-reflexia,dystonia,andrigidity

Decreaseddexterity,weakness,paralysis,fatigability,andslownessofmovement

TreatmentGoals

1 Gormley ME, Jr., O'Brien CF, Yablon SA. A clinical overview of treatment decisions in the management of spasticity. Muscle Nerve Suppl 1997; 6:S14-20

2 Barnes MP. Spasticity: a rehabilitation challenge in the elderly. Gerontology 2001; 47:295-9

MajorClassesofTreatmentGoalswithExamplesofEach1,2

• Improveactivitiesofdailyliving(e.g.,dressing,hygiene)• Reducepain• Enhanceeaseofcare• Improvelimbposition• Improvegait

FunctionalObjectives

• Increaserangeofmotion• Reducetone• Reducespasm

TechnicalObjectives

• Preventcontracture• Preventskinmaceration• Preventskinulcers

PreventiveObjectives

Tradi*onalStep-LadderApproachtoManagementofSpas*city

NeurosurgicalproceduresOrthopedicproceduresNeurolysisOralmedicationsRehabilitationTherapyRemovenoxiousstimuli

Spas*cityTreatmentTeam

Rehabilitative Therapy -Physiatry

-Physical Therapy -Occupational Therapy

Neurologist

Patient

Primary Care Provider

Nursing

Family

Direct Care Staff

Orthopaedic Surgeon

Neurosurgeon

Anesthesiologist

Demen/ainI/DD

Func*onalDecline

� Aprocessinwhichapersonisunabletoperformatthesamelevelofactivityaspreviouslyperformed� Cognitive� Physical

� Whatisnormativeagingandwhatispathologic?� FunctionaldeclinehasanimpactupononesADL’s,QOL,andneedsforsupports

Functional Decline

Cognitive Neuromotor Psychiatric

General Medical

Dementia

Visual Impairment

Peripheral Neuropathy

Myelopathy

Radiculopathy

Depression

Psychotic Disorders

Cardiac

Endocrine

Musculoskeletal

ADR

Bipolar Dis

Stroke

Head Injury

Pulmonary

SIB Seizures

Nerve Comp

Spasticity

Anxiety

Sensory

Hearing Impairment

Vestibular

DomainsofCogni*onandDemen*a

� Memory�  Shortandlongterm

� Attention� Executivefunction� Language� Visuospacial� Praxis

� Progressivedeclineincognitionandfunctionwithevolutionofsymptomsovertime

Classifica*onofDemen*asPotentiallyReversible Irreversible

�  DrugToxicity�  MetabolicDisturbance�  NormalPressureHydrocephalus�  MassLesion(Tumor,ChronicSubdural)�  InfectiousProcess(Meningitis,Syphilis)�  Collagen-VascularDisease(SLE,Sarcoid)�  EndocrineDisorder(Thyroid,Parathyroid)

�  NutritionalDisease(B12,thiamine,folate)�  Mooddysfunction�  Sleepdysfunction

�  Alzheimer’sDisease�  FrontotemporalDementia�  Parkinson’sDementia�  LewybodyDisease�  PrimaryProgressiveAphasia�  Huntington'sChorea�  KufsDisease�  Multi-infarctDementia�  Jacob-CruzefeldtDisease�  Headinjuries�  HIVDementia�  MultipleSclerosis

Alzheimer’sDiseaseinDownSyndrome�  WomenwithDown’ssyndromearemoreatriskof

developingAlzheimer’sdiseasethanmeninthe40to65agegroup

�  PeoplewithDown’ssyndromewhodevelopAlzheimer’sdiseaselive,onaverage,9-10yearsfromfirstsymptoms

�  Infrequentlyrapiddeclinecanoccur�  Lateon-setseizures�  Fromdiagnosistodeathisonaverage8.2years

PercentageofpeoplewithDownsyndromewhodevelopdementia

atdifferentages:

Agepercentagewithclinicalsignsof

dementia

30’s 2%40’s 10-15%

50’s 33%60’s 50-70%Source:Neil,M.(2007).Alzheimer'sdementia:Whatyouneedtoknow,whatyouneedtodo.Understandingintellectualdisabilityandhealth.Accessedfromhttp://www.intellectualdisability.info/mental-health/alzheimers-dementia-what-you-need-to-know-what-you-need-to-do.

PercentpersonswithDownsyndromeshowingevidenceofneurofibrillarytangles(NFT)andsenileplaques(SP)atautopsy

Source: Mann (1993) – [based on 39 published studies n=434]

PlaqueofAmyloidBeta-Protein.

Visibleasablackglobularmasswhenstained.Theplaqueissurroundedbyabnormalneuritesanddegenerating

neurons

NaturalhistoryofAlzheimer’sDisease

1 2 3 4 5 6 7 8 9

0

5

10

15

20

25

30

Time (years)

Symptoms

Diagnosis

Loss of functional independence

Behavioural problems

Nursing home placement

Death Min

i-Men

tal S

tate

Exa

min

atio

n (M

MSE

) Early diagnosis Mild-to-moderate Severe

Feldman and Gracon. The Natural History of Alzheimer’s Disease. London: Martin Dunitz, 1996

Updatedmodelintegra/ngAlzheimer'sdiseaseimmunohistologyandbiomarkersThethresholdforbiomarkerdetec/onofpathophysiologicalchangesisdenotedbytheblackhorizontallineJacketal.(2013).TheLancetNeurology,12,207-216.

AdultswithDownSyndrome:SpecialtyClinicPerspec*ves

Chicoine, B., McGuire, D., Rubin, S. Diagnosed Disorders for 148 Adults Who Presented with a Decline in Function

Disorder Frequency Percent of Diagnosed Disorders (%) Mood 76 31 Anxiety 31 13 Obsessive-Compulsive 29 12 Behavior 23 9 Hypothyroid 22 9 Adjustment 12 5 Alzheimer's 11 4 B12 Deficiency 7 3 Menopause 7 3 Attention Deficit / Hyperactive 6 2 Gastrointestinal or Urinary 6 2 Sensory Impairment 6 2 Psychotic 4 2 Other Medical Conditions* 4 2 Cardiac Conditions 3 1

TOTAL 247 100

Dementia, Aging and Intellectual Disabilities: A Handbook ed. by Janicki and Dalton (Taylor and Francis, 1999)

Challengestodiagnosisandcare�  IndividualswithI/DDmaynotbeabletoreportsignsandsymptoms

�  Subtlechangesmaynotbeobserved� CommonlyuseddementiaassessmenttoolsarenotrelevantforpeoplewithI/DD

� Difficultyofmeasuringchangefrompreviousleveloffunctioning

� ConditionsassociatedwithI/DDmaybemistakenforsymptomsofdementia

� Diagnosticovershadowing� Agingparentsandsiblings�  Lackofresearch,education,andtraining

Early detection/screening ‘NTG-EarlyDetectionScreenforDementia’(NTG-EDSD)� Usablebysupportstaffandcaregiverstonotepresenceofkeybehaviorsassociatedwithdementia� Picksuponhealthstatus,ADLs,behaviorandfunction,memory,self-reportedproblems� AvailableinmultiplelanguagesUse:toprovideinformationtophysicianordiagnosticianonfunctionandtobegintheconversationleadingtopossibleassessment/diagnosis

http://aadmd.org/ntg/screening

MoranJA,etal"ThenationaltaskgrouponintellectualdisabilitiesanddementiapracticesconsensusrecommendationsfortheevaluationandmanagementofdementiainadultsWithintellectualdisabilities"MayoClinProc2013;88(8):831-840.http://www.medpagetoday.com/TheGuptaGuide/Neurology/41094

�  Takingthoroughhistory,withparticularattentionto"redflags"thatpotentiallyindicateprematuredementiasuchashistoryofcerebrovasculardiseaseorheadinjury,sleepdisorders,orvitaminB12deficiency

�  Documentingahistoricalbaselineoffunctionfromfamilymembersofcaregivers

�  Comparingcurrentfunctionallevelwithbaseline�  Notingdysfunctionsthatarecommonwithageandalsowithpossibleemerging

dementia�  Reviewingmedicationsandnotingthosethatcouldimpaircognition�  Obtainingfamilyhistory,withparticularattentiontoahistoryofdementiain

first-degreerelative�  Notingotherdestabilizinginfluencesinpatient'slifesuchasleavingfamily,

deathofalovedone,orconstantturnoverofcaregivers,whichcouldtriggermooddisorders

�  Reviewingthelevelofpatientsafetygleanedfromsocialhistory,livingenvironment,andoutsidesupport

�  Continually"cross-referencingtheinformationwiththecriteriaforadementiadiagnosis"

TheNTG’srecommendednine-stepapproachforassessinghealthandfunc*on.

Demen*aandGoalsofCare

� MaintainingQOL� Prolonginglife� Preventfunctionaldecline

� Slowprogression� Decreasepsychiatric/behavioralproblems

� Fallreductionprogram� Reducehospitalization

� Watchforsignsofabuse,neglect,andcaregiverburnout

� CholinesteraseInhibitionandMemantine

� Pharmacologicandbehavioralinterventions

� PalliativeCare� EndofLifeCare

BehavioralandPsychologicalSymptomsofDemen*a(BPSD)

� 90%ofpeoplewithdementiawillhaveatleastonesymptom

� Depression—40%� Delusions—63%� Hallucinations—4-41%� Aggression—31-42%� Apathy

� Associatedwithworseprognosis

� Morerapidcognitivedecline� Increasedcaregiverburden� Leadstoearlieradmissiontoinstitutionalcare

� IncreasedhealthcarecostFinkelSI,BurnsA,CohenG(2000)OverviewofBPSD,aclinicalandresearchupdate.IntPsychogeriatrics12(suppl1):13–18

CommonTriggers� Physical

�  Acuteillness/infection,medications,pain,poorvision,hearing,poorsleep

� Cognitive�  Inabilitytounderstand,expressoneself,lackofinsight,misinterpretationofenvironment,difficulttoproblemsolve

�  Emotional�  Fear,anxiety,depression,frustration,apathy,boredom

�  Environmental§  Changesincaregiver,confrontationalapproach,tasksthatexceedabilities,changeinroutine,over/understimulation,lackofvisualcues

NonpharmacologicalApproaches

�  Familiarenvironment—avoidfrequentmoves

�  Softlighting�  Calmcolors�  Placestowalk�  Accesstooutdoorspaces� Home-likeenvironment�  Lowstimuli—minimizebackgroundnoise

�  Timeoutspace

�  IndividualizedCarePlanning

�  Carefulanalysisofcareinteractions

� Meaningfulactivity� MusicTherapy�  Exercise�  Snoezelen(multisensorystimulationprogram)

�  Aromatherapy�  Yoga

Donot:� Argue–itwillmakethesituationworse� Tellthepersonwhattheycan’tdo–tellthemwhattheycando� Talkdowntothepersonasiftheyareayoungchild� Askalotofquestions� Talkaboutapersonwithdementiaasiftheyarenotpresent,evenifyouthinkthattheycannotunderstandyou

� Clearindication,potentialbenefitsandrisks�  FDABlackBoxWarningforAntipsychoticsinusageinpatientswithdementia.Studieshaveshownanincreasedrateofmortalitysecondarytovascularcomplicationsincludingstrokesandcardiacevents1

�  Identifytargetsymptoms� Expectedtimetoresponse� RisksassociatedwithandwithoutRx� Appropriatedoserange� Monitoringforsideeffectsandresponse� Whentoconsiderdosereduction,discontinuation.

FDA Public Health Advisory: Deaths with antipsychotics in elderly patients with behavioral disturbances. Accessed January 16, 2006, at www.fda.gov/cder/drug/advisory/antipsychotics.htm

Medications Specifically for Behavioral Psychological

and Symptoms in Dementia (BPSD)

1

Target Symptoms Medication

Delusions Hallucination Aggression “Agitation”

Atypical Antipsychotics: • risperidone • olanzapine • quetiapine

Sadness Irritability Anxiety Insomnia

Antidepressants • citalopram • sertraline • venlafaxine • mirtazapine • trazodone

Target symptoms Medication

Mood swings Euphoria Impulsivity

Mood stabilizers: •  valproic acid •  carbamazepine

Agitation Apathy Irritability

Cholinesterase Inhibitors. Memantine

Anxiety (short term use in predictable situations)

Anxiolytics: •  lorazepam •  oxazepam

Sink KM et al. Pharmacological treatment of neuropsychiatric symptoms of dementia: a review of the evidence. JAMA. 2005;293:596-608

Medica*onsSpecificallyforAlzheimer’sSymptoms:

BehavioralPsychologicalandSymptomsinDemen*a(BPSD)

An*psycho*cs�  Classofmedsusedtotreatpsychosisandothermentaloremotionalconditions;delusions,hallucinations,agitation,paranoia

�  Blockreleaseofdopamineinthebrain�  Typical(conventional)oratypical�  Typicalarenotselectiveandalsoblockreceptorsinotherareasofthebrainwhichmayproduceunwantedsideeffects

�  Atypicalcausefeweracuteorchronicextra-pyramidalsymptoms(EPS)

�  Atypicalantipsychoticsresultinimprovementinmoodandcognitioncomparedtotypicalantipsychotics

Sideeffectsofan*psycho*cs�  Parkinsonism�  Dystonia-abnormalfaceandbody

movements�  Akathisia(restlessness)�  Tardivedyskinesia(longterm)�  Exacerbatedbydrugholidayregime�  Morecommoninfemales�  Worsenedinresponsetoreducingdrug�  Irreversible(denervationsupersensitivity)

Manyundesirablesideeffects(e.g.,constipation,metabolicsyndrome,lactation,andretrogradeejaculation)

Cogni*veEnhancers�  CholinesteraseInhibitors;Aricept,Exelon,Razadyne

�  Heller,J.AmericanJournalofMedicalGenetics,Oct.15,2004;vol130:pp324-326�  LottITetal.ArchNeurol.2002;59:1133-1136�  KishnaniPSetal.(1999)Lancet353:1064

�  NMDA(N-methyl-D-aspartate)receptorantagonist;Namenda�  Hanney,Prasher,TheLancet,Volume379,Issue9815,Pages528-536,11February2012

� HerbalSupplements/Vitamins�  GinkgoBiloba�  VitESano,Metal.(1997)Acontrolledtrialofselegiline,alpha-tocopherol,orbothastreatment

forAlzheimer‘sdisease.NEJM336:1216-22

�  Research�  Anticholinergics�  Nicotine�  Homocysteine�  HuperzineA�  NSAIDS�  BetaAmyloidandTauproteinantagonists�  Vaccinationtrials

ProgressionofDisease;An*cipatoryGuidance

� CognitiveSkillswilldecline� Supportneedswillincrease� Increaserisksoffalls,injuries� Swallowingdysfunction,clots,pneumonia,bladderinfections

� Seizures� Watchforsignsofabuseandneglect� Watchforsignsofcaregiverburnout� Endoflifedecisions

Pallia*veandEndofLifeCare� TherealizationthatAlzheimer’sdiseaseprogresseswithincreasingrisksofhealthcomplicationsimpactingonesQOL/ADL’s

� Respectingoneswishesforlevelofcareandqualityoflife� Defining,anticipating,andpreparingforendoflife