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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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