Overview of Down Syndrome,

Cerebral Palsy, and Epilepsy

Donna Riedle RN, IPMG

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Objectives

oTo understand the diagnosis and unique

needs of Individuals with Down Syndrome,

Epilepsy, and Cerebral Palsy.

oTo learn how to support Individuals with

Down Syndrome, Epilepsy, and Cerebral

Palsy.

oTo understand medical risks related to each

diagnosis.

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DOWN SYNDROME

Unique Support Needs

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Down Syndrome Defined

oDown syndrome is a genetic variation of the 21st

chromosome, which usually causes delay in

physical, intellectual and language development.

oThe exact cause of the chromosomal

rearrangement and the primary prevention of Down

syndrome are currently unknown.

oDown syndrome is one of the leading clinical causes

of cognitive delay in the world – it is not related to

race, nationality, religion or socio-economic status.

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Incident

oOf all children born in this country annually,

approximately 6,000 will have Down syndrome.

oThere are about 350,000 to 400,000 people

living in the United States with Down syndrome.

oAccording to a 2010 study reported by the CDC,

the incidence of Down syndrome in the United

States is estimated to be 1 in every 691 live

births.

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Risk Factors

oThe likelihood of giving birth to a child with

Down syndrome increases with maternal

age; however, 80% of babies with Down

syndrome are born to women under 35

years old, as women in that age group have

the most babies.

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Cause

oDown syndrome is usually caused by an

error in cell division called nondisjunction. It

is not known why this occurs. However, it is

known that the error occurs at conception

and is not related to anything the mother did

during pregnancy.

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Diagnosis – Prenatal Screening

o “The Triple Screen” -

These tests are

usually done between

15 and 20 weeks of

gestation.

oSonograms

(ultrasounds) - are

usually performed in

conjunction with other

screenings.

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Pre-natal Diagnostic Tests

oAmniocentesis is

performed between 12

and 20 weeks

gestation.

oChorionic Villus

Sampling (CVS) is

conducted between 8

and 12 weeks.

oPercutaneous

Umbilical Blood

Sampling (PUBS) is

performed after 20

weeks.

Genetic Screening

oTrisomy 21 (94%)

oTrisomy 21 (nondisjunction) is caused by a faulty

cell division that results in the baby having three

#21 chromosomes instead of two. Prior to or at

conception, a pair of #21 chromosomes in either

the egg or the sperm fails to separate properly.

The extra chromosome is replicated in every cell

of the body. Ninety five percent of all people with

Down syndrome have Trisomy 21.

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Genetics – Con’t

oMosaicism (2.4%) oMosaicism occurs when nondisjunction of

chromosome #21 takes place in one of the

initial cell divisions after fertilization. When this

happens, there is a mixture of two types of

cells, some containing 46 chromosomes and

some with 47. The cells with 47 chromosomes

contain an extra 21st chromosome. Because of

the “mosaic” pattern of the cells, the term

mosaicism is used. This type of Down

syndrome occurs in only one to two percent of

all cases of Down syndrome.

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Genetics – Con’t

oTranslocation ( 3.3%)

oTranslocation accounts for only 3% to 4% of all

cases. In translocation a part of chromosome #21

breaks off during cell division and attaches to

another chromosome. The presence of an extra

piece of the 21st chromosome causes the

characteristics of Down syndrome. Unlike Trisomy

21, which is the result of random error in the early

cell division, translocation may indicate that one of

the parents is carrying chromosomal material that

is arranged in an unusual manner.

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Syndrome Presentation

oLow muscle tone

oFlat facial features,

with a small nose

oUpward slant to the

eyes

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Presentation

oSpeckling of iris –

Brushfield’s spots

oSmall skin folds on

the inner corner of

the eyes

oSmall , abnormally

shaped ears

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Presentation

oSingle deep crease

across the center of

the palm

oHyperflexibility

oEnlarged tongue-

tends to stick out

Co-Morbid Conditions

oAs many as 50% have heart anomalies

o 10-12% have gastrointestinal issues

o 60 % Hearing problems

o 70% Vision problems

o 20 % Celiac disease

o 45% Sleep apnea

o 50% Thyroid problems

o Increased risk of leukemia

oMore susceptible-respiratory illness, pneumonia,

aspiration, bronchiolitis syndromes, croup, and chronic

lung disease

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Treatment and Support

oDevelopmental

Therapy

oSpeech Therapy

oPhysical Therapy

oHippotherapy

oMusic Therapy

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Aging

o Increased hormonal

problems than the

general population

oCataracts

oConductive Hearing

Loss

oOsteoarthritis

o25% of adults over the

age of 35 show signs

of Alzheimer’s disease

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Quality of Life

o Life expectancy for people with Down syndrome has increased dramatically in recent decades, from 25 in 1983 to 60 today

oAttend school, work, participate in decisions that affect them , and contribute to society in many ways.

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Challenges

oEmployment

oSocial Isolation

oHealth

maintenance

Summary

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Resource - Down Syndrome Indiana

http://www.dsindiana.org/

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Resource – National Down Syndrome Congress

http://ndsccenter.org/

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EPILEPSY

Unique Support Needs

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Definition

oDisorder of the

brain’s electrical

system

oLoss or change of

consciousness

oJerking and

spasms

oDifficulty speaking

o2 or more seizures

Epilepsy vs Seizure

oA seizure describes a brain dysfunction that

occurs when the normal electrical impulses

in the brain become disrupted.

oapproximately 70 percent of seizures occur

without an identifiable cause

oPatients with epilepsy have seizures, but

patients with a seizure do not necessarily

have epilepsy

oEpilepsy is when an individual has two or

more seizures

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Symptoms

oWide range of symptoms

oStaring

oFalling

oFumbling with clothes

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Absence Seizures

oStaring spells

oMore common in

children

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Generalized Clonic Tonic Seizures

oFormally known as Grand Mal Seizures

oStiffening of arms and legs

oJerking movement

oMay last up to 3 minutes

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Partial Seizure

oAffects one side of brain

oJerking

oHallucinations

oUnaware

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Causes

oGenetic factors

oSevere head injury

oBrain infection

oStroke Oxygen

deprivation

oIn 2/3 of people

with epilepsy, a

cause is never

found

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Diagnosis

oMedical exam and

history

oEEG - Electroencephalogram

oBrain Scan

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Health Risk

oSafety

oSuicide Risk

oSUDEP – Sudden

Unexpected Death

in Epilepsy

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Related Conditions

oADHD

oDepression

oMood Disorder

oMost common- Major Chronic Depression

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Treatment and Support

oFactors Influencing the Decision to

Treat

oAbnormal EEG

oPrevious Seizure

oOther neurological impairment

oElderly

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Treatment and Support

oMedications

oAntiepileptic or

anticonvulsant

oMust maintain a

therapeutic level

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Treatment

oKetogenic Diet

oHigh in fat, low in

carbohydrates

oVery strict diet

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Treatment

oVagus Nerve

Stimulation –VNS

o“Pacemaker for the

Brain”

oSurgical implant

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Treatment

oSurgery used for

people with partial

seizures

oTreat underlying

condition

First Aid for Seizures

oTime the seizure

oClear the area of anything hard or sharp

oLoosen anything at the neck

oTurn the person onto his or her side

oPut something soft beneath the head

oDo NOT place anything in the mouth

oCall 911

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Treatment for Status Seizures

oStatus Epilepticus

oHospital treatment

oMedication

oOxygen

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Seizure “Predicting” Dogs

oMay be able to

sense a seizure

oMay keep individual

safe

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Epilepsy Research

Goals:

1. Increase the

number of people

who can fully

control their

seizures.

2. Reduce effects of

treatment

Living with Epilepsy

oChallenges

oRelationships

oSchool

oEmployment

oDriver license

oLeisure activities

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Resource - www.epilespyfoundtion.org

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CEREBRAL PALSY

Unique Support Needs

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Definition

oCP is a non-progressive disorder of

motor control and function that is

caused by damage to a child’s brain

early in the course of development.

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Cerebral Palsy

oCollection of motor disorders

oNot just one disorder

oOccurs due to brain injury early in life.

oNOT inherited

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Cerebral Palsy

oImpaired motor control

oAbnormal muscle tone, posture, movements,

balance and coordination

oDecreased function

oVariable severity

oIs permanent

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3 major findings

oDecreased control of body movement or

posture

oStatic brain injury

oOccurrence of the brain injury either before

birth, around the time of birth, or in the 1st

few years of life

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Cerebral Palsy

oUmbrella term

oEncompasses

many different

motor disorders.

oMany different

causes.

oWide variety of

associated deficits.

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Non-progressive Brain Injury

oBut…Appearance

of deficits may

change as the child

grows.

How Common in CP? oMost common motor disability of

childhood

o1.5 to 4 cases per 1000 live births

worldwide

o3.3 per 1000 cases among 8 year olds

oCP, on average, occurs 1.2 times more

frequently among boys than girls

o8000 new cases per year in U.S.

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What causes CP?

o85 to 90 % of

cases are

present at birth,

or due to

congenital

causes

Congenital Causes

oNeurologic damage due to fetal infection,

poor oxygenation, prematurity, stroke

oCirculation deficits due to heart defects,

blood clotting disorders

oMalformation of the brain

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Perinatal Causes (around the time of

birth)

oPremature infant with complications

oStroke

oMeningitis/sepsis

oSevere , untreated jaundice

oHypoxic- ischemic encephalopathy with

acidosis

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Postnatal Causes

oInfections/meningitis (viral or bacterial)

oShaken baby syndrome

oTraumatic brain injury

oStroke

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Risk Factors

oPrematurity

oMultiple pregnancy

oPlacental abruption

oIntrauterine

infection

oBirth trauma

causing anoxia (no

oxygen)

oMaternal epilepsy

oMaternal hyper /

hypo thyroid

oChorioamnionitis

oSevere toxemia of

pregnancy

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Periventricular Leukomalacia

oPeri = around

oVentricular = brain

ventricle

oLeuko = white

oMalacia = scarring

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Classification of CP

Classification is

based on muscle

tone and body

movement patterns

oSpastic – most

common

oDyskinetic – dystonic

, athetoid

oAtaxic – least

common

oHypotonic – initially

most worrisome

oMixed – spastic /

dystonic; spastic /

athetoid; spasticity

with hypotonia

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Spastic CP

oVelocity dependent

hypertonia

oIncreased muscle

tone in response to

quick passive

muscle stretches.

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Dyskinetic

oInvoluntary

sustained or

intermittent muscle

contractions with

twisting and

repetitive, abnormal

postures, or both.

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Ataxic

oJerky, unsteady,

poorly coordinated

movements

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Hypotonic

oFloppy; low muscle

tone, difficulty

holding up trunk

and head against

gravity

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Classification by Affected Body

Parts

oDiplegic/Diparetic

oAffects both legs

much more than

arms

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Classification by Affected Body Parts

oQuadriplegic/

Quadriparetic

oAffects entire body/

arms and legs

oSpasticity and

muscle control may

be asymmetrical in

arms and legs.

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Signs and Symptoms - Infant

oFloppy at birth

oExaggerated infant

reflexes

oDifficulty sucking

oMotor skill delay

oEarly hand

preference

oAsymmetric arm or

leg movement

oOther delayed

milestones

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Signs and Symptoms - Toddler

oMotor skill delay

oAbnormal mobility

patterns –

persistent army

crawling, bunny

hopping, bottom

scooting

oSignificant

differences

between motor and

cognitive milestone

oToe-walking ;

abnormal walking

patterns

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Diagnosis

oThere is no one

specific test

oComprehensive

history is reviewed:

pregnancy,

delivery,

developmental

milestones

oFamily history ;

review risk factors

oPhysical exam

oNeurological exam

oEye exam

oSpeech / language,

occupational and

physical therapy

evaluations as

needed

oBrain imaging

oSpinal cord imaging

Laboratory Work

oNot always routine

o CPK level in weak, low toned children.

oUrine studies for amino and organic acids,

carnitine

oBlood levels for ammonia , lactate, pyruvate,

acyl-carnitine and long chain fatty acids

oChromosomal analysis and genetic studies

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Differential Diagnosis What else could it be?

oMuscular dystrophy

oBrain tumor

oMetabolic disorder

oFamilial spastic

paraparesis

oNeurodegenerative

disease

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Associated Disorders

oVisual

oSensory

oHearing

oLearning

oBehavioral

oPsychological

oOral motor

oNutrition

oRespiratory

oBowel/ bladder

oEpilepsy

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Associated Disorder –

Musculoskeletal

oBone health: risk

for decreased bone

mineral density

oBone growth: risk

for joint deformities ,

length discrepancies

of limbs

oFoot: bunions

oFoot/ankle:

deformity

oKnee: flexion

contractures, knock

knee

oHip: possible

dislocation, flexion

contractures

oSpine: kyphosis,

lordosis, scoliosis

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Windswept Posture

oHip and knee

flexion contractures

with rotation of the

thigh bones at the

hip sockets; pelvic

bone un-leveling

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Associated Disorder –

Musculoskeletal (cont)

oShoulders- tight at

sides of chest

oElbows- elbow

contractures and

pronation

deformities

oWrist- flexion

contractures with

deviation towards

the ulna or radial

bone

oHands- thumb in

palm, finger

deformities

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Walking Patterns

oScissored oCrouched

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Walking Patterns

oToe Walking oStiff Knee

Walking Patterns

oIn toeing / out toeing

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Treatment - Multidisciplinary

oPediatrician

oNeurologist

oPhysiatrist

oOrthopedist

oDevelopmental

pediatrician

oGastoenterologist

oPulmonologist

oPhysical therapist

oOccupational

therapist

oSpeech and

language

pathologist

oPsychologist/

neuropsychologist

oOrthotist

oNutritonist

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Common Habilitation Goal

Areas oMobility skills/

gross motor

oFine motor skills

oCommunication

oSocialization

oOral motor skills

oADL’s/ self care

skills

oBehavioral

regulation

oSpasticity

management

oMuscle tone

management

oMedical care

oDental care

Common Goals oMaintain or improve joint range-of-motion

oManage spasticity and muscle tone-

decrease / increase as needed

oMuscle strengthening

oImproved physical endurance

oMaximize fine motor skills

oImprove balance and coordination

oControl drooling and improve swallowing

oDevelop age-appropriate social and

recreational skills

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Traditional Therapies

oOccupational

oPhysical

oSpeech and oral-motor / swallowing

oDevelopmental

oBehavioral

oRecreational

oMusic

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Specific Techniques

oStretching

oStrengthening

oElectrical stimulation

oConstraint-induced movement therapy

oGait (walking) training - partial body weight

supported on treadmill; pool therapy

oRobotics

oHippotherapy

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Robotics

oRobotic therapy offers

an opportunity to treat

secondary

complications

o High repetition

o Consistency of

movement

o Increased intensity

oRobotics may actually

create new neural

pathways

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Hippotherapy

oPhysical therapy in

which a patient sits

or lies on the back

of a horse for the

therapeutic effect of

the horse's

movement

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Bracing and Orthotics

oUpper extremities

oLower extremities

oSpine

oNeuro-prosthesis

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Adaptive Equipment

oFrequently

prescribed to

increase

independence in

mobility

oUsed to facilitate

safety and

efficiency of care-

giving.

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Spasticity Management

oStretching and Range of Motion

oOral medications

oChemical intervention

oIntrathecal baclofen

oSelective dorsal rhizotomy

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Common Medications

Oral Medications:

o Baclofen

o Diazepam

o Clonidine

o Tizanidine

o Dantrolene

Injected Medications:

o Botox ( BoNT-A)

o Myobloc ( BoNT-B)

o Alcohol nerve and motor

point blocks

Orthopedic Surgery

oMuscle tendon lengthening and transfers

oSpinal fusion

oBony reconstruction of hip joints and ankles

oFemoral and tibial bone surgeries

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Selective Dorsal Rhozotomy

oNeurosurgical technique for cutting sensory

nerve rootlets in the lumbar and sacral spinal

cord levels

oDecrease muscle tone

oMay unmask underlying muscle weakness

oPermanent and not adjustable post-

operatively

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Intrathecal Baclofen Pump

oSurgical implant of

pump and catheter

(tubing) that

delivers baclofen to

the spinal fluid

oDosage is

adjustable

oPump can be

removed if ever

desired

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Lifetime Prognosis:

Challenges with Growth oPeriods of rapid growth may bring increased

contractures and periods of decreased coordination

of motor skills

o Increased caloric requirements with growth may

present the need for caloric supplementation, by

mouth or G-tube

oLonger and heavier limbs are more difficult to move

and control-there may be the appearance of

decreasing motor function

oHowever- sudden increases in spasticity deserve

medical evaluation for constipation, UTI, pain, etc.

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Quality of Life - QOL

o Perception of QOL is very subjective

o QOL in children with CP has been studied

mostly through parental surveys

o Recent studies of direct child reports

indicate that greater than 50% of children

with CP perceive their psycho-social QOL

as similar to non-disabled peers

o Children seem to incorporate early onset

physical disabilities into the “sense of self”

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Cerebral Palsy and Aging

oApproximately 500,000 people in the U.S.

live with CP

oHealth of adults with CP in generally “good”

oFunctional status of adults with CP is not

static and there is usually only modest

decrease in function as there is for the

general population

oExercise can improve function

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Cerebral Palsy and Aging

oMortality : related to severity of impairments;

those with most severe deficits rarely survive

to 60 years

oThose with mild / moderate impairments

have survival rates close to the general

population

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Health and Aging with CP

oMusculoskeletal: osteoarthritis, osteoporosis;

hip, knee, and foot pain

oSpine: degenerative conditions; progression

of scoliosis

oPeripheral nerve compression: carpal tunnel

and ulnar nerve compression

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Health and Aging with CP

oRespiratory issues: scoliosis and aspiration

oSwallowing deficits

o Intestinal obstruction

oUrinary tract infections

oSexual dysfunction

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Sexual Function and CP

oAdult women often receive limited health

screens (PAP smears, etc.)

oWomen require appropriate screens for use

of oral and other contraceptives

oWomen generally able to conceive and carry

term pregnancies

oAdult males have normal function and fertility

oAdults require appropriate health screens

and sex education/ pregnancy prevention

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Summary

oCerebral palsy is defined as a collection of

motor disorders due to brain injury early in

life of a baby or young child; it is a static

condition but impacts development across

the life span.

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Summary

oThe causes of CP are broad, but most

causes are present at birth

oThere are common subtypes base on the

type of movement impairments and areas of

body affected

oManagement techniques include medical,

surgical, therapeutic, orthotic, and adaptive

equipment

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Summary

oAssociated medical issues can be extensive

and highly variable

oAging issues commonly include pain and

fatigue; but, exercise has been

demonstrated to help maintain flexibility,

strength , and function.

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Resources

owww.cerebralpalsy.org

oUnited Cerebral Palsy

– www.ucp.org

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Questions

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