pedia lect
TRANSCRIPT
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NURSINGCARE FOR
PEDIATRICPATIENTS
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HISTORY
Up to 1800
"viewed as property
"head of household had power of life and
deathdetermine fates as adult
"have to behave as adults
"play is foolish and sinful
"children were workers
must help at early age
"formal schooling as luxury
for males only
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1900 onwards
Various theories were
formulated to understand
children and to consider their needs
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HEALTH PROBLEMS OF
NEWBORNS
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HEALTH PROBLEMS OF NEWBORNS
1. Congenital Abnormalities
A. Chromosomal disorders / abnormalities2. Inborn errors of metabolism
--- NEWBORN SCREENING
HEALTH PROBLEMS OF INFANTS
1. Malnutritiona. Marasmus
b. Kwashiorkor
2.Food sensitivity
a. lactose intolerance
b. cow¶s milk allergy
3. Unknown etiology
a. SIDS
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HEALTH PROBLEMS
OF NEWBORNS
1. CONGENITAL
ABNORMALITIES
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CHROMOSOMAL DISORDERS
Humans normally have
22 pairs of autosomes
1 pair of sex chromosomes
an alteration in the amount or nature of thechromosomal material is seen in 5 in 1000
live births
usually associated with multiple
congenital anomalies & learning difficulties a high proportion [ 40%] of all
spontaneous abortions are caused by
chromosome abnormalities
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most chromosome defectsarise de novo
¬classified as
abnormalities of number or
structure¬might involve either
the autosomes or the sex
chromosomes
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Examples of important
chromosomal disorders:
Type Class Name Defect
Numerical Autosomal Down syndrome Trisomy 21
Edwards
syndrome
Trisomy 18
Patau syndrome Trisomy 13
Sex
chromosomes
Klinefelter
syndrome
47, XXY
Turner
syndrome
45, XO
Structural Deletions Prader-Willi
syndrome
15q deletion
Cri-du-chat
syndrome
5p deletion
Wilms tumour
with aniridia
11p deletion
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Down syndrome / Trisomy 21
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Edwards syndrome / Trisomy 18
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Patau syndrome / Trisomy 13
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Klinefelter syndrome / 47, XXY
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Turner syndrome / 45, XO
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COMPARISON : KLINETURNER
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Prader-Willi syndrome / 15q deletion
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Cri-du-chat syndrome / 5p deletion
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Wilms tumour with aniridia / 11pWilms tumour with aniridia / 11p
deletiondeletion
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INDICATIONS FOR
CHROMOSOME
ANAL YSIS
phenotype consistent
with known chromosomal
disorder
multiple congenital
abnormalities dysmorphic features
recurrent pregnancy
losses
spontaneously aborted
or stillborn fetuses bone marrow in
leukemia, solid tumours
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Chromosome studies are carried out
on dividing cells
most commonly, T cells from
peripheral blood are used after
stimulation of mitosis with
phytohaemagglutinin
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CHROMOSOMAL
ABNORMALITIES
3 autosomal trisomies are found in liveborn infants
others are not compatible with lifeand are found in spontaneously aborted
fetuses: XDown syndrome
trisomy 21 [1:700 live births]
YEdward syndrome
trisomy 18 [1:8000 live births] ZPatau syndrome
trisomy 13 [1:15000 live births]
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Trisomy
¬refers to the fact that three, rather
than the normal two copies of a specific
chromosome are present in the cells of an individual
Trisomies
¬occur because of a meiotic error
called non-dysjunction in the gamete of
mother or father
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DOWN SYNDROME
Trisomy 21
most common
autosomal trisomy
compatible with life
the extrachromosomal material
can result from
Xnon-dysjunction
Ytranslocation
Zmosaicism
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Non-dysjunction
95% of children with Down syndrome
The pair of chromosomes 21 fail toseparate at meiosis
one gamete has two copies of chromosome 21
Fertilization of this gamete gives rise to azygote with trisomy 21
90% of non-dysjunctions are maternallyderived
increasing steeply in mothers over 35years
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Risk of Down Syndrome [for live
births] by maternal age at delivery
Maternal age [years] Risk
All ages 1:700
30 1:900
35 1:380
40 1:110
44 1:37
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higher proportion of pregnancies occur
in younger women
¬most children with trisomy 21 are
born to women under 35 years of age
¬recurrence risk for parents of children
with trisomy 21 increases to 1-2%[unless age related risk is higher]
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Translocation
4% --- have 46 chromosomes
¬with a translocation of the 3rd # 21 chromosome toanother chromosome [most commonly 14]
three quarters of cases are de novo
one quarter---one parent has a balanced translocation
¬one chromosome 21
if mother is the translocation carrier
¬
the recurrence risk might be as high as 15 %
if the father is the carrier
¬the risk is 2.5 %
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Mosaicism
1 % of cases the non-dysjunction
occurs during mitosis
¬after formation of the zygote¬so that some cells are normal
¬some show trisomy 21
¬the phenotype might be milder in
mosaicism
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CLINICAL FEATURES OF DOWN SYNDROMEDysmorphic facial features -round face
-epicanthic folds, flat nasal bridge
-protruding tongue
-small ears
-brushfield spots on iris
Other dysmorphic features single palmar creases
flat occiput
incurved little fingers
gap between 1st & 2nd toes
[sandal toe gap]small stature
Structural defects -cardiac defects in 50 %
-duodenal atresia
Neurological features *hypotonia
*developmental delay
*mean IQ=50
Late medical complications -increased risk of leukaemia-
respiratory infections-
hypothyroidism-Alzheimer¶s
disease-atlantoaxial instability
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Management & Prognosis
Parents need information about the following:1-implications of the diagnosis
2-assistance available from professionals & self-helpgroups
Normal feelings include:
1-disappointment
2-anger
3-guilt
Genetic counseling ----- for recurrence risks
life expectancy----- has increased
needs to be addressed:
1-issues relating to employment
2-living situations in adulthood
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SEX CHROMOSOME
DISORDERS
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TURNER SYNDROME
there is only one normal X chromosome
affects 1 in 2500 live born females
various underlying chromosomal defects are seen:
-in 55 % of girls the karyotype is 45, XO
-in 25 % deletion of the short arm of one X
chromosome ¬isochromosome
with duplication of one arm &loss of the other
-in 15% there is mosaicism due to postzygoticmitotic non-
Dysjunction
¬45, XO / 46, XY incidence does not increase with maternal age
recurrence risk is the same as the general populationrisk
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hallmarks of Turner syndrome
Xshort stature
Yprimary amenorrhoea
intelligence normal
specific learning difficulties
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Dysmorphic features
-lymphoedema of hands & feet [at birth]
-neck webbing
-widely spaced nipples -wide carrying angle [cubitus valgus]
-short stature
Structural & functional abnormalities
-gonadal dysgenesis
-congenital heart disease-----particularly coarctation
of the aorta
-renal anomalies
CLINICAL FEATURES OF
TURNER SYNDROME
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Management
Therapy
with growth hormone----- improves final height
ovarian hormones-----NOT produced due to gonadal dysgenesis
[STREAK OVARIES]
Oestrogen therapy-----given at the appropriate age [11 years]
-----to produce maturation of secondary sexual
characteristics
breast development towards the end of puberty-----progesterone is added
-----to maintain uterine health
-----allow monthly withdrawal bleeds
[periods]
although pregnancy can occur naturally
most patients are infertile can be achieved with in vitro fertilization
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Structural Chromosomal
Abnormalities
arise from chromosome breakagedeletions-----most common
duplications
inversions
unbalanced translocations
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E.g. of chromosomal deletions include:
CRI -DU- CHAT SYNDROME
-caused by deletions of short arm of chromosome 5 [5p-]
-affected children have profound mentalretardation
-cat like cry
PRADER -W ILLI SYNDROME
-caused by deletions of the parental copy of 15q11-13
-obesity & learning difficulties
ANG ELMAN SYNDROME
-caused by deletions of the maternal copy of 15q11-13
-happy puppet syndrome ataxia
learning difficulties
happy disposition
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POL YMERASE CHAIN REACTION
a technique of obtaining a large amountof DNA copied from a small initial sample
it has applications in detection of specific
DNA sequences or differences in genes
main clinical use is in detection of
mutations & rapid diagnosis of bacterial or
viral infection
it has a very high sensitivity
increasingly used in clinical practice
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GENETIC COUNSELLING
carried out as a specialist service by trained medicalstaff & specialist nurses
main aim-----to provide information about hereditarydisorders
-----parents will have greater autonomy &choice in
reproductive decisions
Information base in genetic counseling:
-magnitude of risk -severity of disorder
-availability of treatment
-parental cultural & ethnical values
Options in antenatal genetic counseling:
-not to have offspring
-to ignore the risk -antenatal diagnosis & termination of pregnancy
-pre-implantation diagnosis
-artificial insemination by donor or ovum donation
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The Basic Elements Of Counselling Include:
establishing a diagnosis
this might involve physical examination of
proband & family
members & special investigations including DNA,
cytogenetic &
biochemical analysis
estimation of risk
the risk for future offspring is determined by
the mode of
inheritance of the disease
communication information must be conveyed in an
unbiased & non-directive
way & all the possible options should be discussed
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Inborn Errors Of Metabolism
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Inborn Errors Of Metabolism
describe any of the inherited disorders
that result in a defect in normal
biochemical pathways
Individually they are rare
certain ethnic groups are at increased
risk for specific diseases.
autosomal recessive
some are X-linked
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The clinical effects might be caused byaccumulation of
excess precursors
toxic metabolites
metabolic energy insufficiency
Clinical manifestations
non specific often mistaken for sepsis
Metabolic stress often precipitates
Symptoms
weaning intercurrent infections
commonly during the neonatal period
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Investigations might reveal
severe acidosis
hypoglycaemia
hyperammonaemia
In older children, they should be considered
as a cause of: Progressive learning difficulties
Developmental delay
Seizures
Failure to thrive Coarse facies
Hepatosplenmegaly
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Investigations that should be undertaken for an initial screeninclude:
Urea and electrolytes, liver function tests, lactate and ammonialevels
Acid ± base status and anion gap Cerebrospinal fluid (CSF) lactate
Blood levels of glucose and amno acids
Urine amino acids and organic acids: ketonuria is abnormal asneonates do not readily produce ketones in the urine.
Treatment
stop feeds
administer dextrose to stop metabolic load and further catabolism.
Correction of
metabolic disturbances
ventilatory
renal support
Prognosis very poor
the diagnosis should be made so that prenatal diagnosis canbe performed in future pregnancies.
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PHENYLKETONURIA (PKU)
autosomal recessive trait
an incidence of 1 in 10,000 live births
a carrier rate of 1:50
the defect lies in the enzyme phenylalanine hydroxylase
converts phenylalanine to tyrosine
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H y per phenylalaninaemia
build up of toxic byproducts
phenylac etic acid -----excreted in the urine
phenylketonuria
common
treatable
Newborn Screening-----Gut hri e T est
carried out at several days of
age
necessary for the infant to
have been fed milk-----w/c
contains phenylalanine infants with PKU-----clinically
normal at birth
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GL YCOGEN STORAGE DISEASES
group of conditions
caused by defects in the enzymes involved inglycogen
synthesis or breakdown
there is an abnormal accumulation of glycogen intissues
the pattern of organ involvement depends on theenzyme
defect
may include
liver
heart
brain
skeletal muscle
other organs
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there are at least six varieties
eponyms e.g. type 1A
¬von Gierke¶s disease
¬ glucose-6-phosphatase deficiency
Affected children have
Xgrowth failure
Y hypoglycaemia
Zhepatomegaly
Treatment by
frequent feeds throughout day & night
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MUCOPOL YSACCHARIDES [MPS] group of disorders
caused by defects in enzymes involved in the metabolism
& storage of mucopolysaccharides
They are progressive multisystem disorders
Xcentral nervous system
Yeyes Z heart
[skeletal system
Characteristic features are:
developmental delay in the first year
coarse facies: develop in most cases although children are normal
at birth
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Newborn screening developed in three phases:
(1) routine screening for 5 disorders excludingG6PD deficiency in the 24 member hospitals in
Metro Manila,
(2) addition of screening for G6PD deficiency to the
5-disorder screening panel, and
(3) program evaluation with subsequent reduction
in the time of sample collection to 24 hrs of age or
older (from the initial requirement of 48 hrs. or
older) and discontinuation of screening for homocystinuria as a cost cutting measure (due to
non-detection of cases).
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What are the disorders included in the
Newborn Screening Package?
1. Congenital Hypothyroidism (CH)
CH results from lack or absence of thyroid
hormone, which is essential to growth of
the brain and the body. If the disorder is
not detected and hormone replacement is
not initiated within (4) weeks, the baby'sphysical growth will be stunted and she/he
may suffer from mental retardation.
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2. Congenital Adrenal Hyperplasia (CAH)
CAH is an endocrine disorder that causes
severe salt lose, dehydration andabnormally high levels of male sex
hormones in both boys and girls. If not
detected and treated early, babies may die
within 7-14 days.
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What should be done when a baby is tested a
positive NBS result?
Babies with positive results should be
referred at once to the nearest hospital or
specialist for confirmatory testing and
further management. Should there be no
specialist in the area, the NBS secretariat
office will assist its attending physician.
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MALNUTRITION
Worldwide-----due to inadequate intake
[starvation]
----is responsible for millions of
childhood deaths
Can also complicate many childhood
diseases
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MALNUTRITION IN CHILDHOOD---CAUSES Inadequate intake
Starvation due to famine
Poverty Restrictive diets---parental,
iatrogenic, self-inflicted
Anorexia nervosa
Anorexia due to chronic illness
Malabsorption
Pancreatic disease e.g. cysticfibrosis
Celiac disease
Short gut [postoperative]
Increased energyrequirements
Cystic fibrosis
Malignant disease
Burns
Trauma
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CONSEQUENCES OF SEVERE
MALNUTRION
Impaired immunity
Delayed wound healing
Apathy and inactivity
Impaired intellectual development
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Assessment of nutritional status
Evaluation involves:
dietary history
anthropometry and clinical examination
laboratory investigations
Dietary history
the food intake-----determined over a
period of several
days
as recalled by parents or recorded
in a diary
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Kwashiorkor is a condition resulting frominadequate protein intake.Early symptomsinclude fatigue, irritability, and lethargy. Asprotein deprivation continues, one sees growthfailure, loss of muscle mass, generalizedswelling (edema), and decreased immunity. Alarge, protuberant belly is common. Theincidence of kwashiorkor in children in the U.S.is extremely small and it is typically found incountries where there is drought & famine.
Laboratory investigations
Useful laboratory tests include:
Xserum albumin
reduced in severe malnutrition
YFBC
low haemoglobin & lymphocyte count Zblood glucose
[calcium, phosphate & vitamin D levels
\serum potassium & magnesium levels
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Management
Nutrition can be supplied:
enterally, via the gastrointestinal tract
this route is preferred wherever possible parentally, directly into the circulation
In many cases, malnutrition is due toinadequate intake & can be managed by theprovision of supplementary enteral feeds givenvia a nasogastric or gastrostomy tube
Examples of chronic diseases requiring suchsupplemental feeding include:
Xcystic fibrosis
Ycongenital heart disease
Zcerebral palsy
[chronic renal failure
\malignancy inflammatory bowel disease
anorexia nervosa
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A person may be or may become
lactose intolerant for different reasons:
Ethnic background. People of Asian, African, Native American, and Hispanic backgrounds are more likely todevelop lactose intolerance at a young age.
Other problems with the digestive tract. People withirritable bowel syndrome or Crohn's disease have areduced level of the lactase enzyme. Those with other
diseases of the gastrointestinal tract, such as celiacdisease, can also have problems digesting lactose.
Medications. Certain antibiotics can trigger temporarylactose intolerance by interfering with the intestine'sability to produce the lactase enzyme.
Infection. After a bout of infectious diarrhea, some kids
can develop a temporary lactose intolerance that usuallyimproves after a few days or weeks.
Age. As people get older, their bodies usually stopproducing the lactase enzyme, and most people willnaturally become lactose intolerant over time.
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How Do Doctors Diagnose It?
If your doctor suspects you might be lactose intolerant, he or she will takeyour medical history by asking about any concerns and symptoms youhave, your past health, your family's health, any medications you'retaking, any allergies you may have, and other issues. Your doctor willalso give you a physical examination.
Doctors can test for lactose intolerance by using the hydrogen breath test.Normally very little hydrogen gas is detectable in the breath. However,undigested lactose in the colon ferments (breaks down) and producesvarious gases, including hydrogen.
If your doctor decides to give you a hydrogen breath test, you'll beasked to blow into a tube for a beginning sample. You'll then swallow adrink or eat a food with lactose in it, wait a while, and breathe into thetube again. The hydrogen level of the sample is then checked.
Doctors also can find out if you're able to digest lactose by testing for thepresence of lactase with an endoscopy. During this procedure, doctorsview the inside of the intestines by inserting a long tube with a light and atiny camera on the end into the mouth or anus. A doctor can then taketissue samples and pictures of the inside of your gut and look for clues to
why you've been having problems with what you're eating.
H ti f d li
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Here are some tips for dealing
with lactose intolerance:
Choose lactose-reduced or lactose-free milk.
Take a lactase enzyme supplement (such as Lactaid) just before you eatdairy products. These can be taken in drops or tablets and even addeddirectly to milk (they tend to make milk taste a bit sweeter if left for a longtime).
When you do drink milk or eat lactose-containing foods, eat other non-lactose foods at the same meal to slow digestion and avoid problems.(For example, if you are going to have a milkshake, don't drink it by itself.Have something else with it ² like a healthy sandwich.)
Drink juices that are fortified with calcium.
Eat a variety of dairy-free foods that are rich in calcium, such as broccoli,beans, tofu, or soy milk. Consider hard cheeses such as cheddar, whichare lower in lactose.
Yogurts that contain active cultures are easier to digest and much lesslikely to cause lactose problems.
Learn to read food labels. Lactose is added to some boxed, canned,frozen, and prepared foods like bread, cereal, lunchmeats, salad
dressings, mixes for cakes and cookies, and coffee creamers. Be awareof certain words that may mean the food has lactose in it: butter, cheese,cream, dried milk, milk solids, powdered milk, and whey, for example.
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Lactose Intolerance
Also called: Dairy product intolerance, Lactasedeficiency, Milk intolerance
Lactose intolerance means that you cannot digest foodswith lactose in them. Lactose is the sugar found in milkand foods made with milk. After eating foods with lactosein them, you may feel sick to your stomach. You mayalso have
Gas
Diarrhea
Swelling in your stomach
Your doctor may do a blood, breath or stool test to findout if your problems are due to lactose intolerance.
Lactose intolerance is not serious. Eating less food with
lactose, or using pills or drops to help you digest lactoseusually helps. You may need to take a calciumsupplement if you don't get enough of it from your diet,since milk and foods made with milk are the mostcommon source of calcium for most people.
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Infant form la for co 's milk
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Infant formula for cow's milk
intolerant babies
1. Goat's milk formula
Some babies with who are sensitive to cow's milk can tolerate goat's milk formula.However, babies with a true cow's milk allergy are frequently unable to tolerate goat'smilk as well.
2. Soy protein formula
Around 50% of babies who are allergic to cow's milk can tolerate soy-based infantformula. However, recent studies are now highlighting evidence which questions theappropriateness of offering soy infant formula to babies.
3. Partially hydrolyzed formula
Partially hydrolyzed formulas are available without a doctor's prescription and mayprove useful where a child is 'at risk' of developing an allergy (e.g. where familymembers have allergies) However, partially hydrolyzed formula are notrecommended for cow's milk allergic children, once symptoms have developed.
4. Extensively hydrolyzed formula
Hydrolyzed formula can be used for babies with cow's milk allergy, whenbreastfeeding isn't possible and if soy formula is poorly tolerated. These are cow'smilk-based formula that has been processed by breaking down the protein intosmaller parts that are less likely to cause allergy. These specialized formulas require adoctor's prescription.
5. Amino acid based formula (elemental formula)
"Neocate" is not based on cow's milk. It's a totally non-allergenic extensivelyhydrolyzed formula that is completely broken down into amino acids. It can be helpfulfor the 10% of cow's milk allergic children, who continue to display allergic symptomswhile on an extensively hydrolyzed formula (which can contain residual fragments of cow' milk proteins). Neocate is only available on a doctor's prescription.
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H I d th SIDS i k?
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How can I reduce the SIDS risk? Health care providers don¶t know what exactly causes SIDS, but
they do know certain things can help reduce the risk of SIDS:
Always place babies on their backs to sleep ± Babies whosleep on their backs are less likely to die of SIDS than babieswho sleep on their stomachs or sides. Placing your baby on hisor her back to sleep is the number one way to reduce the risk of SIDS.
Use the back sleep position every time ± Babies who usuallysleep on their backs but who are then placed on their stomachs,like for a nap, are at very high risk for SIDS. So it is important
for babies to sleep on their backs every time, for naps and atnight.
Place your baby on a firm sleep surface, such as a safety-approved* crib mattress covered with a fitted sheet - Never place a baby to sleep on a pillow, quilt, sheepskin, or other softsurface.
Keep soft objects, toys, and loose bedding out of your baby¶s sleep area ± Don¶t use pillows, blankets, quilts,sheepskins, or pillow-like bumpers in your baby¶s sleeparea. Keep all items away from the baby¶s face.
Avoid letting your baby overheat during sleep ± Dress your baby in light sleep clothing and keep the room at a temperaturethat is comfortable for an adult.
Think about using a clean, dry pacifier when placing your baby down to sleep, but don¶t force the baby to take it. (If you¶re breastfeeding, wait until your child is 1 month old, or isused to breastfeeding before using a pacifier.)
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