MODULE 12: Child with Physiologic Alterations on Cognitive - Perception

Question 1

Myelinated nerve fibers; receive and store
impulses

Answer 1

White matter

Question 2

Nerve cell bodies, dendrites, neuroglia and unmyelinated axons; carries impulses

Answer 2

Grey matter

Question 2

Part of neuron that receives signals

Answer 2

dendrite

Question 3

Part of neuron that transmit signals

Answer 3

Axon

Question 4

Parasympathetic nervous system effects

Answer 4

a. constrict pupil
b. stimulates salivation
c. slows heart rate
d. constricts bronchi
e. stimulates digestion
f. causes bladder to contract

Question 5

Sympathetic nervous system effects

Answer 5

a. dilates pupil
b. inhibits salivation
c. increases heart rate
d. dilates bronchi
e. inhibits digestion
f. inhibits contraction of bladder

Question 6

Assessing child with neurologic disorder

Answer 6

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

Question 7

Cerebral Function

Answer 7

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

Question 8

Cranial Nerves

Answer 8

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

Question 9

Cranial Nerves

Answer 9

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.

Question 10

Cerebellar Function

Answer 10

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

Question 10

Motor Function

Answer 10

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

Question 10

Sensory Function

Answer 10

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

Question 11

Reflex Function

Answer 11

a. Reflex testing is also done as part of neuro assessment
b. Example: Deep tendon reflex, Newborn reflexes

Question 12

Lumbar Puncture (Lumbar Tap)

Answer 12

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

Question 13

Nursing responsibilities: Lumbar Tap

Answer 13

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

Question 14

Ventricular Tap

Answer 14

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

Question 15

Cerebral Angiography

Answer 15

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

Question 15

Myelography

Answer 15

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

Question 15

X-Ray techniques

Answer 15

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

Question 16

Computed Tomography

Answer 16

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

Question 17

Magnetic Resonant imaging

Answer 17

a. Uses magnetic film to distinguish defenses in the tissue
composition
b. Assess if patient is claustrophobic

Question 18

Positron Emission Tomography

Answer 18

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

Question 19

Echoencephalography (Ultrasound of Head or Spinal Cord)

Answer 19

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

Question 20

Electroencephalography

Answer 20

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

Question 21

Mental Retardation

Answer 21

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)

Question 22

Degrees of Severity

Answer 22

a. Mild: IQ is 50-70 b. Moderate: IQ is 35-55 c. Severe: IQ is 20-40 d. Profound: IQ is below 20

Question 23

Fragile X

Answer 23

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

Question 24

Levels of Intellectual Disability

Answer 24

a. Mild b. Moderate c. Severe/Profound

Question 25

Mild

Answer 25

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.

Question 26

Moderate

Answer 26

a. IQ between 35-50 b. Has important relationships c. Uses certain words d. Needs lifelong support in planning and organization of their lives

Question 27

Severe/Profund

Answer 27

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

Question 28

Signs of Intellectual Disability

Answer 28

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

Question 29

Trisomy 21: Physical Findings

Answer 29

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)

Question 29

Trisomy 21 (Down syndrome)

Answer 29

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

Question 30

Medical Problems Common in Down syndrome

Answer 30

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%

Question 31

Why was the condition not detected in the prenatal ultrasound?

Answer 31

While maternal serum screening and prenatal ultrasound identify majority of pregnancies at increased risk for Down Syndrome, some cases are missed

Question 32

Can newborn screening detect Down Syndrome?

Answer 32

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.

Question 33

What kind of test will confirm a diagnosis of Down Syndrome?

Answer 33

Chromosomal analysis will be able to confirm the clinical diagnosis of Down Syndrome and provide information that will help with counseling

Question 34

Cognitive impairment in Down syndrome

Answer 34

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)

Question 35

Etiology of Down syndrome

Answer 35

a. Full trisomy 21: 95% b. Translocation: 3-4% c. Mosaicism: 1-2%

Question 36

Maternal age risk

Answer 36

a. 15-29 - 1:1500 b. 30-34 - 1:800 c. 35-39 - 1:270 d. 40-44 - 1:100 e. >44 - 1:50

Question 37

Antenatal testing for Down syndrome

Answer 37

a. It is commonly diagnosed in the immediate newborn period after an apparently uneventful pregnancy b. First - Trimester Screening c. Second - Trimester Screening

Question 38

First trimester screening

Answer 38

a. Maternal age, nuchal translucency ultrasonography, and measurement of maternal serum human chorionic gonadotropin (-hCG) and pregnancy associated plasma protein A (PAPP-A)

Question 39

Second trimester screening "quad screen"

Answer 39

a. Incorporates maternal age risk with measurement of maternal serum hCG, unconjugated estriol, fetoprotein (AFP), and inhibin levels

Question 40

The detection of Down syndrome is

Answer 40

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

Question 41

Investigation

Answer 41

a. chromosomal analysis or karyotyping b. cardiac assessment c. full blood count d. thyroid function tests e. subspecialty referrals f. genetic counseling

Question 42

Chromosomal Analysis or Karyotyping

Answer 42

a. To confirm the clinical diagnosis and to provide information that will help with counseling

Question 43

Cardiac assessment (chest radiograph, ECG, referral to pediatric cardiology)

Answer 43

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.

Question 44

Full blood count

Answer 44

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

Question 45

Thyroid Function tests

Answer 45

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

Question 45

Subspecialty referrals

Answer 45

a. Pediatrician b. Geneticist c. Developmental Pediatrician d. Ophthalmologist e. ENT f. Cardiologist g. Endocrinologist h. Rehabilitation Medicine

Question 46

Genetic Counseling

Answer 46

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%

Question 47

The pervasive developmental disorder autism spectrum disorder

Answer 47

autistic disorder

Question 47

Autism

Answer 47

A catch - all term when referring to the spectrum of autism disorders

Question 48

Non-Autistic PDDS

Answer 48

a. Asperger's syndrome b. PDD, NOS c. Fragile X syndrome d. RETT's syndrome e. Childhood Disintegrative Disorder

Question 49

Autism Facts

Answer 49

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.

Question 50

Etiology

Answer 50

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)

Question 51

Etiology of ASD: Theories Based on Research

Answer 51

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

Question 52

Diagnosis

Answer 52

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

Question 53

DSM - IV criteria (Diagnostic and Statistical Manual of Mental Disorders)

Answer 53

a. When an individual displays 6 or more of 12 symptoms listed across three major areas: o Social interaction o Communication o Behavior

Question 54

Laboratory / Diagnostics

Answer 54

a. BAER (Brainstem auditory evoked response) b. EEG (Electroencephalography) c. Neuroimaging d. Metabolic screen (thyroid, lead) e. Chromosomal studies (DNA analysis)