Pedia Lect

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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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