Abnormalities Flashcards
A delay in gross motor skills during the Denver II test is indicative of what abnormality?
Cerebral Palsy
The abnormality that includes non-progressive lesions in the brains motor system?
Cerebral Palsy
impaired movements abnormality
cerebral palsy
Cerebral palsy delays what part of development and produces what kind of abnormal performance?
delays gross motor development and abnormal motor performance
Abnormal postures such as when prone: arms & legs under the body and when supine: scissoring of the legs are observed in which abnormality?
cerebral palsy
Cerebral palsy affects what two areas of the mouth?
poor sucking and continue to tongue thrust
name 5 abnormals related to the body with cerebral palsy
no control of body movements spastic floppy reflexes abnormal stiffness, rigidity
what 3 infantile reflexes after 6 months are still present in an infant when there shouldn’t be?
tonic-nec
moro reflex
palmar grasp
what type of walking is present in cerebral palsy
tip-toe walking
describe the crawling for an infant with cerebral palsy
crawling using only arms and not legs
describe the arms for an infant with cerebral palsy
arms are abducted and flexed
main cause in cerebral palsy
cerebral anoxia
pre-existing brain abnormalities are present with what abnormality?
cerebral palsy
name the 6 high-risk items an infant with cerebral palsy may have
LBW, ELBW, prematurity, low APGAR scores at 5 minutes, intracranial hemorrhage, infection.
the most common type of cerebral palsy?
spastic
describe the muscles in spastic cerebral palsy and its consequence if not corrected.
muscles are in continuous muscle contraction and if not treated, causes contractures leading to bone deformities
describe the infant with cerebral palsy motor performance and abnormal posture.
child stands & walks on toes
when prone: hips higher than trunk with legs & arms flexed and drawn up
when supine: scissoring
loss of what is present with cerebral palsy?
loss of normal movement
due to what 3 things is associated with spastic cerebral palsy?
due to: hypoxia, hemorrhage, poor muscle tone
name the 6 types of spastic cerebral palsy
hemiparesis quadriparesis diplegia monoplegia triplegia paraplegia
hemiparesis spastic CP
one side affected in the body
quadriparesis spastic CP
all 4 limbs affected
LE>UE
and trunk affected
which of the 6 spastic types of CP is the most severe disability?
quadriparesis
the type of spastic cp in which similar parts on both sides of the body (i.e. both arms); bunny hop. All 4 extremities, legs more than arms
diplegia
affects only one extremity in spastic CP
monoplegia
affects only the lower extremities in Spastic CP
paraplegia
Classes of CP (name both)
athetoid and dyskinetic/dystonia
the class of CP that includes abnormal involuntary movements that are slow, wrathing, and involve all extremities (includes face, neck, etc)
athetosis
describe dyskinetic class of CP
disorder in the muscle tone/jerkings/increased when the child is tired, excited, or irritated.
give the difference b/t athetosis and dystonia (dyskinetic) class of CP
athetosis: slow & continuous (worm-like)
dystonia/dyskinetic: abnormal sudden movements
give another class of CP
ataxis
describe ataxis class of CP
disturbed coordination
wide-based gait
lack of balance & coordination
difficult to do anything
what is the cause of ataxis class of CP?
cause: defect in cerebellum
name the 5 associated disabilities with CP
intellectual impairment seizures vision px hearing px communication/speech
give the percentage for intellectual impairment associated with CP
70% NL
give the age range for children with CP that are bound to experience seizures
ages 2-6
the kind of seizures a child with CP would get
spastic seizures
give the two vision px while a child that has CP
amblyopia & nystagmus
treatment for CP
very individualized for each patient
name some tx for CP concerning communication & locomotion
speech therapy, braces, wheelchair (quadriplegia)
medications for CP
antiepileptics
muscle relaxants
name the 4 common muscle relaxants medications for CP
baclofen
botox (Botulinum toxin type A for paralysis)
Diazepam (valium)
Phenytoin?
name the two treatments for CP that promote optimal motor functioning.
Physical therapy & OT
correcting defects for children with CP include what two things?
tendon lengthening & correcting scoliosis.
the last treatment option you can do for someone with CP
provide educational opportunities
give the cause of congenital hypothyroidism
typically caused by underdeveloped thyroid
what organ does not stimulate thyroid in congenital hypothyroidism?
the pituitary
there is a deficiency in what with congenital hypothyroidism?
iodine deficiency
moms use of what drug during pregnancy can cause congenital hypothyroidism?
anti-thyroid drugs
12 symptoms associated w/congenital hypothyroidism
"Good baby syndrome" poor feeding weight gain lethargy hoarse cry dry hair/skin large anterior fontanel short puffy eyes large protruding tongue hypotonia constipation
first thing affected without early detection of hypothyroidism
intellectual disability
neonatal screening of what item helps detect hypothyroidism
screening for T4
treatment drug for hypothyroidism
levothyroxine (Synthroid)
one thing associated with taking thyroid hormone?
life-long replacement of the drug
give the dose proportion, and time the drug levothyroxine has to be give to a child with hypothyroidism
proportionally larger than adult and it has to be given as a single dose every morning at the same time
give levothyroxine before how much time before eating breakfast?
30 minutes before feedings
give the child’s dose for levothyroxine
25-50 mcg/kg/day
how to prep levothyroxine
crush drug, use medicine dropper
do not give levothyroxine with what?
soy, calcium, iron, or formula
give 7 toxic symptoms associated with hypothyroidism
weight loss tachycardia fever, sweats irritability S&S of hyperthyroidism insomnia dyspnea
give 6 symptoms that will indicate insufficient thyroid hormone
weight gain sleepiness decreased appetite constipation S&S of hypothyroidism creatinism
give the condition that indicates genetic, autosomal recessive trait
PKU (phenylketonuria)
babies with PKU are missing what enzyme to do what drug
missing the enzyme that converts phenylalanine to tyrosine
what enzyme in PKU when in large quantities can cause seizures?
Phenylalanine
what enzyme (related to PKU) aids in CNS development?
tyrosine
without tyrosine, what is not produced in the body?
melanin
children with PKU have a problem with?
pigmentation
describe what a child with PKU would look like
blonde
blue eyes
susceptible to skin problems
give the characteristic a child with PKU would give in sweat an urine
a musty, mousey odor
8 signs & symptoms of PKU
intellectual diability frequent vomiting FTT seizure activity tremors jerky movements hyperactive irritability
a lab value greater than what will result in intellectual disability with PKU?
greater than 15 mg/dL
you want results for phenylalanine in PKU to be what?
PKU is diagnosed using what test at birth?
Guthrie Test
what must you make sure of before the test for PKU is given?
baby must have several feeding of formula/breast milk before the test
give the time range for testing for the presence of PKU
48-72 hours after birth
when does the test for the presence of PKU usually occur?
typically until day that the baby goes home
what action will you take if the test for PKU comes back positive?
repeat the exam
treatment for PKU
lifelong; controlling the intake of phenylalanine in diet
what is the goal range in controlling phenylalanine in diet for life?
3-10 mg/dL for life
what should you avoid if you have PKU?
avoid dietary proteins
what two foods given is low in phenylalanine?
fruits & juices
what foods are high in phenylalanine and should be avoided in those with PKU?
meats, dairy, eggs, nutrasweet, artificial sweeteners, and asparatime
what substance can be given to infants d/t they cannot eat solids
Lofenelac
when eating solids, how should one keep his diet who has PKU?
Phenyl-free when eating solids
pregnant women will have to do what if they have PKU?
due to high maternal phenylalanine levels having a teratogenic effect, pregnant women will have to go back on diet
what problems will be evident in infant if mom during pregnancy does not control her intake of phenylalanine?
microcephaly
intellectual problems
mental retardation has been replaced with what term now?
intellectual disability
give the range for mild intellectual disability
55-70
give the 3 criteria/items in mild intellectual disability?
slow development
can learn with special education
can achieve social/vocational self-maintenance
give the range for moderate intellectual disability
40-55
give the 4 criteria/items under moderate intellectual disability
delays in motor development
responds to training
poor communication
sheltered
determining intellectual disability is based on what test?
IQ test
give the range for severe intellectual disability
25-40
give the 4 criteria/items under severe intellectual disability
helps self minimally
habit training
some understanding of speech
dependent on others
give the range for profound intellectual disability
under 25
give the four criteria/items under profound intellectual disability
minimally functional
shows basic emotional responses
unable to care for self
requires nursing care
name the condition that is the most common chromosomal disability
down syndrome
trisomy 21 is associated with what condition?
down syndrome
down syndrome is more likely to occur when?
increased r/o getting down when mom has children past the age of 35
major symptom in down syndrome?
intellectual disability
symtoms/signs in down syndrome (8)
low set ears slanted eyes transverse palmar creases flat nasal bridge protruding tongue epicanthal folds hypotonia small square head
in what 3 ways could you increase development potential with down syndrome
increase stimulation
increase praise
increase participation in stimulation
at what age range in development could you see down syndrome affecting?
1-4 years
if child is hospitalized and the child has down syndrome, what should you continue to do?
maintain his normal routine when hospitalized
Down syndrome children will require what during their lifetime (give % & the defect)
30-40% will have congenital heart defects requiring surgery
as children with down grow name the symptoms that may arise (7)
dementia cataracts hearing loss feeding difficulties respiratory px males are usually infertile females may be able to have children (50%) but there is a r/o child born with down as well
name the condition with x-linked recessive disease (more common in what sex)
muscular dystrophy (more common in boys)
clinical manifestations in muscular dystrophy
Lordosis
lordosis, manifested in muscular dystrophy is defined as what?
abnormal curvature of the spine
name the 5 items you will see in a boy will muscular dystrophy concerning his gait
wadding gait toe walking frequent falls difficulty in rising from floor difficulty in climbing stairs
gowers sign is related to what condition and is manifested as what?
muscular dystrophy and is manifested as hands are walking up the childs legs to help him get into a standing position
in muscular dystrophy what is evident about the boys calf?
fat deposits replaced wasted calf (gastrocnemius) & muscle-pseudohypertrophy
clinical manifestations concerning the eye and lungs with muscular dystrophy
drooping of the eyelid later in life and respiratory px late in life
muscular dystrophy (occurs commonly in boys) is due to the increase of what enzyme?
Creatinine phosphokinase (CK)
what kind of testing can be done in muscular dystrophy?
genetic testing
delayed what in muscular dystrophy and what age does it occur?
delayed motor development at 2-6 years in boys with muscular dystrophy
most common and the worse type of muscular dystrophy
Duchenne’s
muscular dystrophy is due to the deficiency or absence of what enzyme?
dystrophia
degeneration of muscles is associated with what abnormality?
muscular dystrophy
the degeneration of muscles in muscular dystrophy causes what?
muscles atrophied, become woody d/t fatty infiltrates
name 4 diagnostic tests that can be performed with muscular dystrophy
muscle biopsy
serum enzyme measurement
serum CK in early disease
genetic testing
give the age range in which delays for boys with muscular dystrophy will occur
2-6 years
progression of muscular dystrophy will have the boy likely to be wheelchair bound at what age?
12 years
death is likely to occur at what age with boys that have muscular dystrophy? by what complication?
death will likely occur to boys with muscular dystrophy at age 20 due to respiratory infections
treatment for boys with muscular dystrophy (5)
supportive-rehab respiratory px range of motion avoid obesity steriods- predisone
floppy infant syndrome is also known as?
spinal muscular dystrophy type I “SMA”
autosomal recessive for both male & female abnormality is called what?
Werding-Hoffman Disease
what abnormality destroys motor neurons controlling voluntary muscle movements?
Werding-Hoffman disease
symptoms for this abnormality occur at 6 months
Werding-Hoffman disease
Males/Females will Werding-Hoffman disease will likely experience death at what age?
most die before the age of 2
Respiratory failure will cause death in this abnormality
Werding-Hoffman Disease
