MODULE 12: Child with Physiologic Alterations on Cognitive - Perception Flashcards
Myelinated nerve fibers; receive and store
impulses
White matter
Nerve cell bodies, dendrites, neuroglia and unmyelinated axons; carries impulses
Grey matter
Part of neuron that receives signals
dendrite
Part of neuron that transmit signals
Axon
Parasympathetic nervous system effects
a. constrict pupil
b. stimulates salivation
c. slows heart rate
d. constricts bronchi
e. stimulates digestion
f. causes bladder to contract
Sympathetic nervous system effects
a. dilates pupil
b. inhibits salivation
c. increases heart rate
d. dilates bronchi
e. inhibits digestion
f. inhibits contraction of bladder
Assessing child with neurologic disorder
a. Health history
o Obtain the mother’s perinatal history
▪ Folic acid supplementation
o Developmental milestones (MMDST)
o School performance
b. Neurologic exam
o Cerebral function
o Cranial nerves
o Cerebellar function
o Motor function
o Sensory function
o Reflex function
c. Diagnostic testing
Cerebral Function
a. Assess the LOC, orientation intelligence, performance, mood
and general behavior
b. Orientation
o Person, place, time
o Ask age-appropriate questions
o Intellectual performance
c. Immediate recall
o Ability to retain a concept for a short time
o Number series test
d. Recent memory
o Slightly longer than immediate recall
o Show an object then ask about it later on after 5 minutes
o Older children: Ask what they ate for breakfast
e. Remote memory
o Long term recall
o Preschoolers: Ask what they ate for breakfast or dinner
f. Specific cerebral function
o Can be measured by assessing language, sensory
interpretation, and motor integration
g. Stereognosis
o Ability to recognize an object by touch
o Ask the child to close eyes then place a familiar object
on his/her hand
h. Graphesthesia
o Ability to recognize a shape that has been traced on the
skin
o Ask the child to close eyes then trace a square or circle
at the back of his/her hand
i. Kinesthesia
o Ability to distinguish movement
Ask the child to close eyes then and extend her hands in
front of him/her
o Raise one of the fingers and ask whether it is up or down
j. Motor integration
o Ask the child to perform a complex task such as folding
a piece of paper then put in a tight envelope
Cranial Nerves
I: Olfactory - S
II: Optic - S
III: Oculomotor - M
IV: Trochlear - M
V: Trigeminal - B
VI: Abducens - M
VII: Facial - B
VIII: Vestibulocochlear - S
IX: Glossopharyngeal - B
X: Vagus - B
XI: Accessory - M
XII: Hypoglossal - M
Cranial Nerves
a. Cranial nerve function depends on whether each nerve is
composed of motor, sensory or mixed nerves, and also on the
region where the nerve endings are located.
b. Motor nerves leading away from the brain (efferent nerves)
to the muscles
c. Sensory nerves bring information to the brain (afferent
nerves); Provide signals that enable movement, organ
function, and sensations such as pain, smell, taste, vision,
hearing, and touch.
d. Mixed nerves both have sensory and motor nerve pathways.
Cerebellar Function
a. Tests for balance and coordination
b. Ask the child to stand on one foot.
o A child as young as 4 yrs. old can hold this for 5 seconds
c. Tandem walk
Motor Function
a. Measured by evaluating muscle size, strength, and tone
b. Measure the circumference of the calves and thighs or upper
and lower arms with tape measure
c. Palpate the muscle for tone
d. Move the extremities for passive range of motion to evaluate
the symmetry, spasticity and flaccidity bilaterally
Sensory Function
a. Should be able to distinguish light touch, pain, vibration,
hot, cold
b. Ask child to close his/her eyes and ask to point the spot where
you touch with an object
c. Vibration is tested by touching the child’s bony prominences
by using a tuning fork
Reflex Function
a. Reflex testing is also done as part of neuro assessment
b. Example: Deep tendon reflex, Newborn reflexes
Lumbar Puncture (Lumbar Tap)
a. Introduction of needle into the subarachnoid space (under the
arachnoid membrane) at the level of L4 and L5 to withdraw
CSF
b. Used to diagnose hemorrhage, CNS infection, or to diagnose
obstruction of CSF flow
c. Contraindications:
o Infected skin over the needle insertion site
o Suspected elevation of CSF pressure
▪ Possible ma-compress ang medulla
d. EMLA or lidocaine cream is used to limit pain 1 hr. before
the procedure
e. Child may be sedated
Nursing responsibilities: Lumbar Tap
a. Sitting Position
b. Lying Position
c. After the procedure, encourage the child to lie down for at least
30mins and drink a glass of fluid to prevent cerebral irritation
caused by air rising in the subarachnoid space
d. Analgesics may be given in case headache develops
e. Observe the child after the procedure
o Watch out for respiratory and cardiac difficulty due to
medulla pressure
f. WOF signs of intracranial compression:
o Decreased PR and RR
o Change in LOC
o Pupillary changes
o Decreased in motor ability
Ventricular Tap
a. CSF may be obtained by a subdural tap into a ventricle
through the anterior fontanelle
o Posterior closes 6-8 weeks
o Anterior closes 12-18 months
b. Slow drainage
c. After the procedure, position patient in semi-fowlers to prevent
additional drainage
Cerebral Angiography
a. X-ray study of cerebral blood vessels that involves injection of a contrast medium into the femoral or carotid artery
b. Serial x-rays are taken as the dye flows through the blood vessels of the cerebrum
Myelography
a. X-ray study of the spinal cord following the injection of a contrast medium into the CSF via lumbar puncture
b. After the procedure, keep the head elevated to prevent the contrast medium from reaching the meninges surrounding the
brain (it can cause irritation)
c. Always ask for allergies and history of medication to avoid
drug-drug interaction
X-Ray techniques
a. A flat skull x-ray film is used to obtain information about
increased ICP or skulls defects (fracture, craniosynostosis
or premature knitting of cranial sutures)
b. Increased ICP is suggested is skull sutures appear separated
Computed Tomography
a. Involves the use of x-rays to reveal densities at multiple
levels or layers of brain tissues
b. Helpful to confirm the presence of a brain tumor or other
encroaching lesions
Magnetic Resonant imaging
a. Uses magnetic film to distinguish defenses in the tissue
composition
b. Assess if patient is claustrophobic
Positron Emission Tomography
a. Involves imaging after injection of positron-emitting
radiopharmaceuticals into a vein
b. Radioactive substances accumulate at diseased areas of the
brain or spinal cord
c. PET is extremely accurate in identifying seizure foci
Echoencephalography (Ultrasound of Head or Spinal Cord)
a. Involves projection of ultrasound towards the child’s head or
spinal cord
b. Non-invasive and does not cause discomfort
c. Used to outline the ventricles of the brain and monitor
intraventricular hemorrhages on preterm infants
Electroencephalography
a. Reflects the electrical patterns of the brain
b. Chemical and physical interactions within the brain at the time
of test
c. Helpful in diagnosing absence seizures
d. Family education: Inform that the room will be darkened. The
child must be cooperative and extremely quiet during the
procedure
e. Sedation may be necessary for children who are unable to
keep still during the procedure
Mental Retardation
a. Known as intellectual disability
b. Substantial intellectual delay which requires environmental or
personal supports to live independently
c. The intellectual functioning that is at least two standard
deviations below the norm. According to the new definition
by the American Association on Mental Retardation (AAMR),
an individual is considered to have mental retardation based
on the following three criteria:
o Intellectual functioning level (IQ) is below 70-75
o Significant limitations exist in 2 or more adaptive skill
areas
o The condition is present from childhood (defined as age
18 or less)
Degrees of Severity
a. Mild: IQ is 50-70
b. Moderate: IQ is 35-55
c. Severe: IQ is 20-40
d. Profound: IQ is below 20
Fragile X
a. Most common inherited cause MR; genetic disorder
* Identified as a break, or weakness, on the long arm of the X
sex chromosome
* Usually affects males, carried female
* Found in genes’ DNA components
* Treatment includes speech, occupational, and physical
therapy
- Significant intellectual disability, variety of physical and
behavioral characteristics
o Physical features:
▪ Enlarged ears
▪ Long face
▪ Connective tissue problems
o Behavioral characteristics:
▪ Attention deficit disorders
▪ Speech disturbance
▪ Hand biting or flapping
▪ Poor eye contact
▪ Aversion to touch and noise
- Symptoms
o Intellectual disability
o Autism spectrum disorders
o Abnormal facial features
o Prominent forehead
o Large ears
o Long face
Levels of Intellectual Disability
a. Mild
b. Moderate
c. Severe/Profound
Mild
a. IQ between 50-70
b. Has important
relationships
c. May learn to read and
write
d. Travels independently
but may need help with
money and organizing
their daily lives.
Moderate
a. IQ between 35-50
b. Has important
relationships
c. Uses certain words
d. Needs lifelong
support in planning
and organization of
their lives
Severe/Profund
a. Severe: below 20-35
Profound: below 20
b. May develop strong
relationships with key
people in their lives
c. Has little or no
speech
d. Needs lifelong help in
most areas
Signs of Intellectual Disability
a. Rolling over, sitting up, crawling, or walking late
b. Talking late or having trouble with talking
c. Slow to master things like potty training, dressing, and
feeding themselves
d. Difficulty remembering things
e. Inability to connect actions with consequences
f. Behavior problems such as explosive tantrums
g. Difficulty with problem-solving or logical thinking
Trisomy 21: Physical Findings
a. Hypotonia
b. Small brachycephalic head
c. Epicanthal folds
d. Flat nasal bridge
e. Upward-slanting palpebral fissures
f. Small mouth
g. Small low-set ears
h. Excessive skin at the nape of the neck
i. Brush-field spots (eyes)
j. Single transverse palmar crease
k. Short fifth finger with clinodactyly
l. Wide spacing between the first and second toes (sandal gap
toes)
Trisomy 21 (Down syndrome)
a. Down Syndrome (Trisomy 21) is the most common
chromosomal abnormality, with an incidence of 1:700
newborns
b. Children with Down Syndrome have multiple malformations,
medical conditions, and cognitive impairment because of
the presence of extra genetic material from chromosome
21
Medical Problems Common in Down syndrome
a. Hearing problems - 75%
b. Vision Problems - 60%
c. Cataracts - 15%
d. Retractive errors - 50%
e. Obstructive sleep apnea - 50-75%
f. Otitis media - 50-70%
g. Congenital Heart Disease - 40-50%
h. Hypodontia and delayed dental eruption - 23%
i. Gastrointestinal atresias - 12%
j. Thyroid disease - 4-18%
k. Seizures - 1-13%
Hematologic problems -
l. anemia - 3%
m. iron deficiency - 10%
n. transient myeloproliferative disorder - 10%
o. leukemia 1%
p. celiac disease - 5%
q. atlantoaxial instability - 1-2%
r. autism 1%
s. hirschsprung disease - <1%
Why was the condition not detected in the prenatal
ultrasound?
While maternal serum screening and prenatal
ultrasound identify majority of pregnancies at increased risk for Down Syndrome, some cases are missed
Can newborn screening detect Down Syndrome?
a. No. It is not included in the newborn screening panel.
b. There are distinct physical features that enable the
clinician to already suspect the diagnosis in the
newborn period.
c. Newborn screening can detect presence of
hypothyroidism in DS newborns.
What kind of test will confirm a diagnosis of Down
Syndrome?
Chromosomal analysis will be able to confirm the clinical diagnosis of Down Syndrome and provide information that will help with counseling
Cognitive impairment in Down syndrome
a. The degree of cognitive impairment is variable:
o Mild (IQ of 50-70)
o Moderate (IQ of 35-50)
o Occasionally severe (IQ of 20-35)
Etiology of Down syndrome
a. Full trisomy 21: 95%
b. Translocation: 3-4%
c. Mosaicism: 1-2%
Maternal age risk
a. 15-29 - 1:1500
b. 30-34 - 1:800
c. 35-39 - 1:270
d. 40-44 - 1:100
e. >44 - 1:50
Antenatal testing for Down syndrome
a. It is commonly diagnosed in the immediate newborn period after an apparently uneventful pregnancy
b. First - Trimester Screening
c. Second - Trimester Screening
First trimester screening
a. Maternal age, nuchal translucency ultrasonography, and measurement of maternal serum human chorionic
gonadotropin (-hCG) and pregnancy associated plasma
protein A (PAPP-A)
Second trimester screening “quad screen”
a. Incorporates maternal age risk with measurement of
maternal serum hCG, unconjugated estriol, fetoprotein (AFP), and inhibin levels
The detection of Down syndrome is
a. First-trimester screening is 82% to 87%
b. Second-trimester screening is 80%
c. By combined first- and second-trimester screening
(referred to as integrated screening) is approximately
95%
- these screening tests are reported to have a 5% false-positive rate
Investigation
a. chromosomal analysis or karyotyping
b. cardiac assessment
c. full blood count
d. thyroid function tests
e. subspecialty referrals
f. genetic counseling
Chromosomal Analysis or Karyotyping
a. To confirm the clinical diagnosis and to provide
information that will help with counseling
Cardiac assessment (chest radiograph, ECG, referral to pediatric cardiology)
a. Approximately 40% of infants will have congenital
cardiac disease
▪ The most common lesions are endocardial
cushion defects, ventricular septal defects, patent
ductus arteriosus, and atrial septal defects.
Full blood count
a. Hematological problems are common in Down
Syndrome.
b. Thrombocytopenia (<100) occurs in up to 28% of
infants
▪ Excessive production of RBC
c. Polycythemia is common
d. Transient myeloproliferative disorders (leukemoid
reactions) may occur in the newborn period.
▪ Infants with Trisomy 21 are 10-20X more likely to
develop leukemia
Thyroid Function tests
a. Initially by newborn screening
b. Approximately 1% of infants with Down Syndrome will
have congenital hypothyroidism
c. If the infant has clinical signs suspicious of
hypothyroidism (for example, prolonged jaundice), a T4
and TSH should be requested
d. 15% of Down Syndrome individuals will develop
hypothyroidism
Subspecialty referrals
a. Pediatrician
b. Geneticist
c. Developmental Pediatrician
d. Ophthalmologist
e. ENT
f. Cardiologist
g. Endocrinologist
h. Rehabilitation Medicine
Genetic Counseling
a. Recurrence risk
▪ Nondisjunction type: 1% or less
▪ De novo Robertsonian translocation type: 2-3%
b. Theoretical recurrence risk for a Robertsonian carrier
parent to have a liveborn Down Syndrome offspring: 1 in 3
c. The actual risks to future offspring depend on parental
sex:
▪ Mother with rob (Dq;21q): 10-11%
▪ Father with rob (Dq;21q): 2.4%
▪ Mother with rob (21q;22q): 14%
▪ Father with rob (21q;22q):1-2%
The pervasive developmental disorder autism spectrum disorder
autistic disorder
Autism
A catch - all term when referring to the spectrum of autism disorders
Non-Autistic PDDS
a. Asperger’s syndrome
b. PDD, NOS
c. Fragile X syndrome
d. RETT’s syndrome
e. Childhood Disintegrative Disorder
Autism Facts
a. A complex developmental disability that typically appears
during the first three years of life.
b. The result of a neurological disorder that affects the
functioning of the brain.
Etiology
a. Exact cause still is unknown
b. ASDS are biologically based neurodevelopmental disorders
that are highly heritable. *
c. Genetics
o Involve multiple genes; demonstrate great phenotypic
variation
o A rare mutation – involving the deletion or duplication of
25 genes on chromosome 16 – over 1% of autism cases
in the US
d. Estimates of recurrence risks:
o 5% to 6% (range: 2%-8%) when there is an older sibling
with an ASD and even higher when there are already 2
children with ASDs in the family.
o Identical twins: if one child has an ASD, then the other
will be affected about 60-96% of the time.
o Non-identical twins: if one child has an ASD, then the
other is affected about 0-24% of the time.
o 10% of children with an ASD:
▪ (+) identifiable genetic, neurologic or metabolic
disorder, (e.g., Fragile X)
Etiology of ASD: Theories Based on Research
a. Researches on the Biologic Basis of ASD
o Major brain structures implicated in autism: cerebellum,
cerebral cortex, limbic system, corpus callosum, basal
ganglia, and brain stem
o Neurotransmitters: serotonin, dopamine, and
epinephrine.
o All involved: Frontal lobe Cingulategyrus, Corpus
Callosum Midbrain, Brainstem, Limbic system and
Cerebellum
b. Diffuse white matter inflammation in Corpus Callosum
(premature maturation??)
c. Decreased Purkinje cells population in the temporal lobe
d. Recent neuroimaging studies:
o A contributing cause for autism may be abnormal brain
development beginning in the infant’s first months
(“growth dysregulation hypothesi”)
e. Sudden, rapid head growth in an infant may be an early
warning signal
f. Although ASDs are believed to be mainly genetic in origin,
environmental factors may modulate phenotypic expression
o Advanced paternal age and maternal age – de novo
spontaneous mutations and/or alterations in genetic
imprinting
o Environmental exposures may act as central nervous
system teratogens in early gestational life
g. Etiology is multifactorial with a variety of genetic, and, to a lesser extent, environmental factors playing a role
Diagnosis
a. Two-stage process:
o Developmental screening during “well child” check-ups
o Comprehensive evaluation by a multidisciplinary team
▪ DSM IV Criteria
▪ Assorted Checklists (e.g., CARS, ADOS, M-CHAT) ▪ Cognitive Testing
▪ Adaptive Skills Testing
DSM - IV criteria (Diagnostic and Statistical Manual of Mental Disorders)
a. When an individual displays 6 or more of 12 symptoms listed
across three major areas:
o Social interaction
o Communication
o Behavior
Laboratory / Diagnostics
a. BAER (Brainstem auditory evoked response)
b. EEG (Electroencephalography)
c. Neuroimaging
d. Metabolic screen (thyroid, lead)
e. Chromosomal studies (DNA analysis)
