Paediatric Examination Handbook 2015
Paediatric Examination Handbook 2015
Paediatric Examination Handbook 2015
4th Edition
Taso Papadopoulos
Class of 2007
Kevin Schwartz
Class of 2007
Illustrators
Desmond Balance Sherry Lai
Ardis Cheng Adrian Yen
Supervisor
Dr. Julie Johnstone
ASCM II Paediatric Preclerkship Coordinator
2015 Taso Papadopoulos & Kevin Schwartz and the University of Toronto
Written permission to copy any part of this material must be obtained from
Taso Papadopoulos & Kevin Schwartz and the University of Toronto,
Faculty of Medicine, Undergraduate Medical Education, (416) 946-7009.
TABLE OF CONTENTS
SECTION 2:
2.1: INFANT/CHILD EXAM .............................................. 9
2.2: NEONATAL EXAM .................................................. 22
2.3: ADOLESCENT EXAM ............................................. 31
SECTION 3:
3.1: SCREENING FOR DEVELOPMENTAL ABNORMALITIES ... 33
APPENDICES ................................................................ 36
Appendix 1: Vital Signs .............................................................. 37
Appendix 2a: Congenital Heart Disease .................................... 38
Appendix 2b: Cardiac Murmurs .................................................. 39
Appendix 3: Common Dermatologic Lesions Of The Neonate .. 40
Appendix 4: Primitive Reflexes................................................... 41
Appendix 5: Apgar Scoring......................................................... 43
Appendix 6: Common Congenital Disorders .............................. 44
Appendix 7: Developmental Milestones ..................................... 46
Appendix 8: Current Immunization Schedule ............................. 48
Appendix 9: Assessment Of Severity Of Dehydration ................ 49
Appendix 10: Tanner Staging ..................................................... 50
Appendix 11: Feeding Schedule ................................................ 54
Appendix 12: Growth Charts ...................................................... 55
REFERENCES ............................................................... 63
1
ABBREVIATIONS USED IN THE HANDBOOK
BP blood pressure
CAS children's aid society
CHF congestive heart failure
CVS Chorionic Villus Sampling
DM Diabetes Mellitus
EMG electromyogram
EtOH ethanol
GBS Group B Streptococcus
GI Gastrointestinal
GTPAL Gravida, Term, Preterm, Abortion, Living
GU Genitourinary
HEENT Head Eyes Ears Neck Throat
HR heart rate
HTN Hypertension
ICP intracranial pressure
LLQ left lower quadrant
LMN lower motor neuron
LUQ left upper quadrant
MCL midclavicular line
MSS Maternal Serum Screen
MVA motor vehicle accident
NICU neonatal intensive care unit
NTD neural tube defect
PPH persistent pulmonary hypertension
RAPD relative afferent pupillar defect
Rh rhesus
RLQ right lower quadrant
RR respiratory rate
RUQ right upper quadrant
SIGECAPS Sleep, Interest, Guilt, Energy, Concentration,
Attention, Psychomotor Retardation, Suicide
TM tympanic membrane
TMJ temperomandibular joint
TORCH Toxoplasma, Other (Syphilis), Rubella, CMV,
Herpes/HIV/HBV/HCV
U/S ultrasound
UMN upper motor neuron
2
SECTION 1.1: GENERAL HISTORY
Please note that this section provides a thorough approach to a paediatric
history. This is not meant to be a strict script for every patient encounter, as
not all questions will be required for every patient. Clinical judgment is
required.
Identifying data
age, sex,
gestational age at birth
who is accompanying the patient and what is their
relationship with the patient.
Medications
current medications, purpose, start date, dose, duration.
any medications in the past 4-6 months
any medications that were taken for an extended period of
time but have been stopped.
Allergies
Drug
o medication used, type of reaction (?anaphylaxis)
Environmental/seasonal/food
Diet:
Typical intake per day
Breast vs. formula, restrictions (why?), supplements
Family History:
genetic diseases, infant deaths, consanguinity
for more detail refer to the congenital anomalies section.
5
Ages, health, names, occupation of parents
Ages, health, names of siblings
Social History:
inhabitants in home, daycare, parental employment, CAS
involvement, support systems
current stressors at home
observe family interactions as well as what they report
6
SECTION 1.2: GENERAL PHYSICAL EXAMINATION
Please note that this is an overview of the general physical examination in
paediatrics and that subsequent sections will provide more detail for the age
specific examinations.
FOR MORE DETAILS OF THE SPECIFIC MANEUVERS PLEASE ALSO
REFER TO THE ASCM I GENERAL PHYSICAL EXAMINATION
HANDBOOK AS THEY WILL ALSO APPLY TO THE PAEDIATRIC EXAM.
General:
Vitals: HR/ RR/ BP (see appendix 1), Temp (>38
rectal/aural, >37.5 oral, >37.3 axillary);
Overall appearance, well vs. toxic looking
Height, weight, and head circumference.
HEENT:
Head: shape and symmetry, fontanelles, dysmorphism
Ears: shape, hearing, otoscopic exam
Eyes: acuity (>3 years), lids, pupils, fundus, strabismus
Mouth: Mucous membranes, teeth, uvula, tonsils, tongue,
frenulum, palate
Neck: stiffness, lymph nodes, thyroid
Respiratory:
Inspect for Respiratory rate and signs of distress (indrawing)
Palpate and percuss chest if indicated
Auscultate all lung fields
Cardiovascular System:
Inspect for Distress or Cyanosis
Palpate chest and peripheral pulses comparing brachial and
femoral, thrills, heaves
Auscultate heart
7
Gastrointestinal:
Inspect abdomen
Auscultate for bowel sounds
Percuss and palpate for tenderness and masses
Musculoskeletal:
Look, Feel, and Move all joints including spine
Neurological:
(For a detailed outline of the neurological examination
please refer to the ASCM I handbook written by Ari
Greenwald.)
Age appropriate exam for Higher cortical function and
development, cranial nerves, power, tone, reflexes, sensory,
and cerebellum function
Dermatological:
Full body inspection for rashes, bruises, caf-au-lait spots,
and hemangiomas
8
SECTION 2.1: INFANT/CHILD EXAM
History:
A complete history should be obtained following the general
outline in section 1.1.
Physical Examination:
10
Tympanic Membrane;
o Colour (pearly gray is normal, erythema
can be caused by infection, fever, or
crying);
o Landmarks (Malleus and cone of light;
distortion of these may indicate fluid
behind TM; this is a better indication of
infection than erythema);
o Perforation, note any fluid in ear canal
11
o Lips: Inspect for cleft, cyanosis, and herpes
lesions
o Gingiva and teeth: hygiene, thrush, herpes,
lower incisors come in ~6 months, but varies
o Tongue for strawberry appearance associated
with GAS/Kawasakis disease; white coating
Nose:
o nasal flaring, patency, deviated septum,
polyps
Sinuses:
o Maxillary and ethmoidal sinuses present at
birth. Pain on palpation is associated with
sinusitis.
o Frontal sinuses begin to form around age 7.
Neck:
12
o Nuchal Rigidity; with child supine lift head from
under occiput and flex neck.
o Inspect and palpate lymph nodes
o Inspect thyroid gland with neck extended and while
swallowing. In children rest thumbs (or 2 fingers
from behind) over thyroid and have child swallow;
describe masses in terms of size,
consistency, tenderness, mobility and
matted.
o Lymph nodes up to 1cm in size, soft, and mobile are
typically normal.
2. Respiratory Examination:
Palpation:
o Palpate for tracheal position with 1 finger in
small children and 2 fingers in older kids
o Chest expansion
o Percussion
13
Auscultation:
o All lobes, compare sides
o Characterize breath sounds and describe any
adventitious sounds (crackles, wheezes, rubs)
3. Cardiovascular:
Inspection
o Dysmorphic features: many congenital heart
lesions associated with chromosomal disorder.
o Cyanosis: check hands and lips for
acrocyanosis; check frenulum for central; Is the
cyanosis asymmetrical?
o Prominent left thorax is associated with both
right and left ventricular failure
Palpation
o Pulses: compare femoral and brachial pulses for
rate, rhythm, and volume (decreased or absent
femoral pulses associated with coarctation)
o Blood pressure: All 4 limbs (decreased leg BP
associated with coarctation)
o Impulses: Depress thorax with first and second
fingers just left of the Xiphoid process. A forceful
impulse implies an enlarged heart. Palpate in
the suprasternal notch for pulsations and thrills
o Palpate valve areas for thrills
o Palpation for an enlarged liver is an important
sign for heart failure
o Palpate periphery for capillary refill and cold
extremities
Auscultation
14
o Listen for S1/S2 in all 4 areas with diaphragm;
S3/S4 with bell
st nd
o Systolic murmurs between 1 and 2 heart
nd st
sounds; diastolic murmurs between 2 and 1
o Describe murmurs in terms of Intensity I-VI,
quality, timing, radiation, changes with
movement. (see appendix 2b for differentiating
physiological from pathological murmurs)
** Don't for get to check for an enlarged liver, ascites, edema, jugular
venous distension, respiratory distress, or pallor/cool extremities as
signs of potential heart failure.**
4. Gastrointestinal/Abdominal Examination:
Inspection
o look for scars, masses, skin lesions, asymmetry,
visible pulsations
o scaphoid versus distended abdomen
it is normal in the newborn period and
infancy to have some distension of the
abdomen, and this will normally flatten out
with age.
o bulging flanks
o abdominal muscle use during breathing
o Sequelae of liver disease and associated
encephalopathy*
Hands
Teres Nails, Thenar wasting,
Palmar erythema, Asterixis*
clubbing
Chest
Spider nevi
15
Petechiae
Gynecomastia
Abdomen
Caput medusa
Umbilical hernia, outie
Other
Loss of male pattern hair
Testicular atrophy
Fetor hepaticus
Auscultation
o listen in all quadrants or until bowel sounds are
heard as they will transmit throughout the entire
abdomen
TIP: To define bowel sounds as being absent, must listen for two
straight minutes.
Percussion
o Percuss in all four quadrants of the abdomen.
Should normally be tympanic percussion note.
o LUQ Traubes space with both expiration and
deep inspiration (dullness with inspiration = a
positive Castells Sign)
o RUQ Percuss in the mid-clavicular line
starting from the level of the anterior superior
iliac spine and moving up to find the lower liver
edge. Then percuss down from the clavicle in
the midclavicular line (MCL) to find the upper
liver edge.
Normal = 6-10 cm in children
TIP: Scratch Test with the stethoscope over the RUQ start to
lightly scratch first up from the RLQ and then down from the
clavicle in the MCL. When the liver edge is reached you will
16
clearly hear a scratching sound. This can help discern liver
span if you have difficulty doing so by palpation.
o Fluid wave, shifting dullness, flank dullness
Palpation
TIP: If the child is ticklish, get them to press their hand on top of
yours while you are examining them and magically the
ticklish feeling often stops.
Kidney ballottement
Peritoneal signs
17
on auscultation with placement of
stethoscope on abdomen
guarding with light palpation or on
percussion
rebound tenderness*
shake tenderness*
*Often unnecessary and causes needless pain if other
signs are present.
5. Genitourinary:
TIP: Show children the same respect and privacy you would for
adults
18
2) Is the child disproportional?
3) Is there abnormal growth velocity?
4) Is the bone age abnormal?
6. Neurological Examination:
Observation:
o ability to speak and answer questions (intellect)
o Gait: walking, running, heel-to-toe, walk on
heels, walk on toes (Gross motor, spasticity, and
cerebellum)
o Useful screening exam tricks include playing
ball; observe children throwing and kicking a ball
with each hand/foot
o Skin for caf-au-lait spots (neurofibromatosis)
19
Sensory: Pain and vibration tests if age appropriate
7. Musculoskeletal
Observation:
o Watch gait closely
o Have the child squat and walk like a duck joint
pathology unlikely if no pain
o Observe standing from duck position if difficult
check for primary muscle disease (e.g.;
dermatomyositis)
Spine:
o Sacral dimples should be level to rule out leg length
disparity
o tuft of hair, midline nevi, angioma, lipoma, central
dimple (associate with underlying spinal cord or
vertebral abnormality)
o Kyphoscoliosis scapulas should be even, check
for curve when bending
o Range of Motion (ROM)
bend forward
bend back
slide hand down leg
rotate to side while sitting for ROM
o test power and reflexes in upper and lower limbs
20
Peripheral joints:
o May sit on parents lap
o Inspect for swelling, redness, and deformity
o Palpate for tenderness, synovial thickening, and
effusions
o active and passive range of motion
8. Dermatologic Examination:
21
SECTION 2.2: NEONATAL EXAM
History:
A complete history as per the general layout with particular
focus on the pregnancy and antenatal/delivery/postnatal
history.
1. Observe
have the mother or father undress the infant. This exam is
preferably done in a warm room with good lighting.
Does the baby look normal or abnormal?
o body proportions, face, head and neck
o If there are deformities document them
o Dont forget to also look at mom and dad for any
similar features.
Respiratory effort
o intercostal or sternal indrawing, tracheal tugging,
tachypnea, stridor/expiratory grunting, cyanosis
Activity
o spontaneous, elicited, hypotonic
Skin
o peripheral/central cyanosis, jaundice
o dermatologic lesions (refer to appendix 3)
TIP: Dont forget to look at the baby from the back side as well,
lesions can be anywhere. To do so, support the babys
head and neck and gently roll them to one side. Inspect the
spine for any NTD, the skin for any lesions and the anus for
patency.
2. Listen
sounds consistent with laboured breathing
strong and loud cry or weak cry
raspy cry
grunting
can the baby be easily consoled
22
3. Vitals
Heart rate, respiratory rate, temperature, oxygen saturation,
and blood pressure (4 limbs to rule out coarctation if
suspected) (See appendix 1).
Height, Weight, Head Circumference.
4. HEENT
Head
o fontanelles, overriding suture lines (with vaginal
deliveries) shape of head, cephalohematomas,
caput succedaneum, hemangiomas
Eyes
o red reflex in both eyes, scleral icterus
o visible hemorrhages of the subconjunctiva sclera
usually benign (resolve in 2-4 wks)
o coloboma or iris heterochromia
Ears
o external ear fully formed and cartilaginous
o Level relative to lateral epicanthal folds
o Patency of the external auditory canal
Nose
o Cartilage/bony deformities
o Patency of nasopharynx
Throat/Mouth
o Cleft lip/palate
o neonatal teeth
23
Neck
o Tone
o attempt to palpate the thyroid by lifting the baby up
from the scapula keeping the occiput resting on the
table, to expose the neck and palpate in the area of
the thyroid gland.
5. Chest
kyphoscoliosis, chest wall deformities
tracheal deviation/tugging
intercostal indrawing.
Inverted nipples, widely spaced nipples, shield chest.
Auscultation
o Good air entry bilaterally
o adventitious sounds.
6. Precordial
AMI, heaves, thrills, heart sounds, murmurs
Physiologic vs. Pathologic Murmurs in Children
o Please refer to Appendix 2
24
TIP: Congestive Heart Failure;
- 95% symptomatic by 3 months
- rarely present at birth
- if presents in 1st week; likely obstructive lesion or
persistent pulmonary hypertension
- if presents at 4 - 6 wks; likely Left-to-right shunt
- if presents after 3 months; likely myocarditis,
cardiomyopathy, or paroxysmal tachycardia
25
8. Musculoskeletal
Spinal alignment and check midline for sacral (pilonidal)
dimple (which could indicate a spina bifida occulta)
Hips
o Barlow (Adduct hips to see if dislocatable)
o Ortolani (Abduct hips with hand over greater
trochanter, to see if hip relocatable)
o
9. Skin
make sure to examine the entire body including the scalp,
axilla, back, buttocks and genitalia
look at the spine tuft of hair may overlie spina bifida
occulta
look for any caudal dimples and see if they form a deep
open tract/sinus and thus represent a neural tube defect.
26
10. Genitourinary
Male
o Check for hypospadias
o testicles descended
o hydrocele/hernia, spermatocele, indirect inguinal
hernia.
o Inspect for visible perineal/scrotal swelling
o Palpate any observed swelling to try and determine
if there is any bowel within the inguinal canal or if it
is only fluid
o Palpate the testes and follow the vas deferens and
vessels up the inguinal canal. If the bundle feels
thickened on one side it may be a sign of a patent
processus vaginalis.
27
TIP: Do not completely retract or force foreskin to check glans
penis, only enough to ensure adequate opening for
urination.
Female
o patent vagina
o normal size clitoris (visible but not resembling a
penis)
o palpate the labia majora to ensure there are no
gonads present.
11. Neurological
(Refer to Appendix 4 for a complete review of primitive reflexes)
Tone
Power
Asymmetrical facial movements
Reflexes
o Suck
o Root
o Grasp (palmar and plantar)
o Step
28
o Moro
29
o Spinal (Gallant) reflex
30
SECTION 2.3: ADOLESCENT EXAM
History:
HEADSS Template:
H ome
How are things at home?
Who lives at home with you?
Have there been any changes at home lately?
Have you ever run away from home?
E ducation
Name of school
Current grade
Academic performance
Amount of school days missed
Behaviour at school
bullying
A ctivities
What do you do when you arent at school?
exercise/play sports
Hobbies
31
Social groups
Do you go out to parties/clubs a lot? Part time work? How
do you pay for the things you do?
D rugs
Do you have any friends who smoke or use drugs?
What would/does your family think if they knew that? What
do you think about it?
Have you ever tried smoking or drinking alcohol? What did
you think? What about other drugs?
Have you ever gotten into trouble because of using these
substances?
S exuality:
Questions about sexual development or sexuality
Current/Past sexual activity
Age of first intercourse
Sexual orientation (M/F/B)
Number of total partners
History of STI
History of pregnancy
Contraception use
o Is it used every time and used properly
History of sexual abuse
S uicide and mental health
How is your mood? (SIGECAPS).
Suicide assessment
o Past attempts
o Protective factors
o Current plan and means to carry it out
Physical Exam:
32
SECTION 3.1: SCREENING FOR DEVELOPMENTAL/
BEHAVIOURAL ABNORMALITIES
History:
34
Physical Exam:
the key is to play with the child to see how he/she interacts
and what they are able to do.
TIP: This exam often takes much longer then the standard
physical and should never be rushed.
35
APPENDICES
36
APPENDIX 1: VITAL SIGNS
Neonate 90-160 bpm
3-12 Months 100-190 bpm
HEART
1-2 Years 90-150 bpm
RATE
3-11 Years 60-130 bpm
12-15 Years 60-120 bpm
BLOOD PRESSURE:
There is more to the determination of blood pressure then just the
measurement itself. The definition of high blood pressure for each
age is defined at a systolic and/or diastolic blood pressure greater
th
than or equal to the 95 percentile for both age and height
percentile. Below, we have provided a general guideline of the blood
pressure ranges. You can find the complete tabulated ranges for
blood pressure in the paediatric population in The Fourth Report on
the Diagnosis, Evaluation, and Treatment of High Blood Pressure in
Children and Adolescents
sBP = 80 + 2 X age
dBP = 2/3 X sBP
37
APPENDIX 2a: CONGENITAL HEART DISEASE
38
Holosystolic murmur. ductus arteriosis. Consists of VSD + Pulmonary and
Septal Defect Aorta Fallot The Great
Ranges from BP/pulse in arms > RVOTO + overriding Systemic circulations
assymtpomatic to BP/pulse in legs. aorta + RVH. Boot Arteries are in parallel. Initial
severe CHF. Treatment with shaped heart on CXR. treatment with PGE
Treatment varies from Balloon or surgical Treatment with infusion to maintain
spontaneous closure correction surgical repair PDA until surgical
to surgery. correction
Atrial Septal 6-8% of all CHD. Aortic Stenosis Ranges form Hypoplastic Left 1-3% of all CHD.
SEM LUSB. May asymptomatic to Most common cause
Defect Heart
close spontaneously CHF. SEM URSB. of death from CHD.
Treatment with Treat initially with
valvuloplasty or valve PGE to maintain PDA
replacement until surgical
correction
Patent Ductous 5-10% of all CHD Pulmonary SEM ULSB.
Arteriosis (>1/3 of VLBW). Stenosis Commonly associated
Continuous murmur with other lesions.
at left infraclavicular Treatment with
area. Closure with balloon valvuloplasty
indomethicin,
catheter, or surgical
ligation
AV Canal Variable severity.
Associated with
Defect
Trisomy 21. Repaired
surgically
*CHD=congenital heart disease, CHF=congestive heart failure, SEM=systolic ejection murmur, LUSB=left upper sternal border, URSB=upper right sternal border, ULSB=upper left sternal border,
VLBW=very low birth weight, VSD=ventricular septal defect, RVOTO=right ventricular outflow tract obstruction, RVH=right ventricular hypertrophy, CXR=chest Xray, PGE=prostaglandin E1,
PDA=patent ductous arteriosis
APPENDIX 2a: CARDIAC MURMURS
39
APPENDIX 3 COMMON DERMATOLOGIC LESIONS OF THE
NEONATE
40
APPENDIX 4: PRIMITIVE REFLEXES
Reflex Procedure Age at Significance of
Disappearance positive test
Palmar Grasp Press against 3-4 months Asymmetrical
the palmar suggests an
surface of the anomaly
hand and the (central or
infant should peripheral)
flex the fingers Try with
sucking as this
can help elicit,
if still absent,
more likely
peripheral
lesion.
Sucking Place finger 2- Variable Absent in
3 cm in the premature
infants mouth infants and
and they generalized
should start to CNS
suck depression.
Rooting Stroke the 2-3 months Generalized
perioral skin at CNS
the corners of depression.
the mouth and
the infant
should turn
and open
mouth to
stimulated
side.
Gallant Stroke to either 2-3 months Absent in
side of the diffuse CNS
spine and the disturbance.
infant should (e.g. Cerebral
laterally flex to Palsy)
the stimulated
side (concavity
on stimulated
side)
Moro Sudden 4-6 months Absent in
movement of serious CNS
the head disturbances
causes Asymmetric in
symmetric Erbs palsy and
abduction and clavicular
extension of the fractures.
arms followed
41
by adduction
and flexion.
Asymmetric With the infant 4-6 months A constantly
Tonic Neck supine, turn the (not present present/
Reflex (Fencing head to one until 2 weeks of persistent, well
Reflex) side, this should age) marked tonic
lead to neck reflex may
extension of the be a sign of
extremities to CNS
the side of the dysfunction.
face and flexion Absent in
of the severe CNS
extensions on insults with
the opposite hypotonia.
side.
Landau Reflex Suspend the 4-6 months Persistence
infant in prone may indicate
position, The delayed
head should lift development.
up and the
spine should
straighten.
Positive Support Stimulate the 2-3 months Lack suggests
ball of one foot hypotonia.
and this should Fixed extension
lead to co- and adduction
contraction of of legs
opposing (scissoring)
muscle groups suggests
allowing weight spasticity due to
bearing. neurologic
disease.
Stepping/Placing Dorsal surface Variable Absent in
Reflex of one foot (usually best severe diffuse
touches the seen after 4 CNS
underside of a days) disturbance
table and this (paralysis)
stimulates the **babies born
infant to place breech may not
the foot on the have this reflex.
table
Parachute Suspend the Onset: 4-6 Delay in
Reflex infant prone and months and appearance
slowly lower the does not may predict
head toward a disappear. future delays in
surface. The voluntary motor
arms and legs development.
will extend in a
protective
fashion
42
APPENDIX 5: APGAR SCORING
Apgar Evaluation of Newborn Infants
Sign 0 1 2
Heart rate Absent Below 100 Over 100
Respiratory Absent Slow, irregular Good, crying
effort
Muscle tone Limp Some flexion of Active motion
extremities
Response to No response Grimace Cough or
catheter in sneeze
nostril (tested
after
oropharynx is
clear)
Color Blue, pale Body pink, Completely pink
extremities blue
Sixty seconds after complete birth of the infant (disregarding the
cord and placenta), the five objective signs above are evaluated,
and each is given a score of 0, 1, or 2. A total score of 10 indicates
an infant in the best possible condition. An infant with a score of 0
3 requires immediate resuscitation.
43
APPENDIX 6: COMMON CONGENITAL DISORDERS:
Congenital Clinical Features
Disorder
Downs Syndrome Trisomy 21
most common autosomal chromosomal abnormality
(1:600-800); associated with advanced maternal age
Physical: upslanting palpable fissures, epicanthal folds,
flat occiput, microcephaly, small midface, speckled iris
(Brushfield spots), low set ears, prominent tongue, single
palmar crease, exaggerated gap between 1st and 2nd toes
Internal: Devel delay, Congenital Cardiac defects (AVSD),
Duodenal (GI) atresia, TE fistula, Hypotonia,
cryptochordism, leukemia, early onset alzheimers,
hypothyroidism, frequent AOM, hearing loss,
DiGeorge Syndrome 2nd most common genetic diagnosis
CATCH 22 - Cyanotic CHD - various types, most
commonly tetralogy of fallot and VSD: Anomalies;
micrognathia and low set ears: Thymic hypoplasia -
recurrent infections: Cognitive impairment:
Hypoparathyroidism - Hypocalcemia: 22q11
microdeletion
Turner Syndrome 45X (or mosaic XO/XXX, XO/XX, etc.)
Often diagnosed due to pubertal delay and/or short stature
Physical: low posterior hairline, broad chest with wide
spaced nipples, short webbed neck, prominent ears, short
4th metacarpal/metatarsal, cubitis valgus (congenital
elbow flexion, short stature
Internal: generally normal intelligence, gonadal dysgenesis
with primary amenorrhea, lymphedema in newborn, high
risk of coarctation of aorta
Rx: Education, growth hormone, estrogen at pubertal age,
gonad removal if 'Y' chromosome in mosaic
Noonan Syndrome "Male Turner syndrome" ALTHOUGH OCCURS IN
FEMALES AS WELL
Autosomal dominant
More MR than turner's, Pulmonary stenosis more
common, normal menstrual cycle in girls, boys may
require testosterone
Klinefelter 47XXY, associated with advanced maternal age
Syndrome Absent puberty, mild MR, long limbs, infertility,
gynecomastia, behavioural issues and impulse control
problems
Rx: Testosterone in adolescence
44
Fragile X Most common cause of developmental delay in boys
CGG repeats on X chromosome
Prominent jaw, forehead, and ears; long narrow face,
macroorchidism; hyperextensibility, mitral valve prolapse,
ADHD and/or autism, MR
Prader-Willi 15q11 imprinting defect due to paternal deletion or
Syndrome maternal uniparental disomy
Hypotonia, hypogonadism, Hyperphagia, obesity, short,
small hands and feet, DM 2, variable developmental delay
Angelman Syndrome 15q11 imprinting defect due to maternal deletion or
paternal uniparental disomy
"Happy puppet" (uncontrollable laughter), severe devel
delay, seizures, hypotonia, midface hypoplasia
CHARGE Coloboma, Heart disease, choanal Atresia, Retardation
Association (mental and growth), GU anomalies, Ear anomalies
VACTERL Verterbral dysgenesis, Anal atresia, Cardiac anomalies,
Association TE fistula, Renal & Radial anomalies, Limb anomalies
45
APPENDIX 7: DEVELOPMENTAL MILESTONES
Age Gross Motor Fine Motor Language Cognitive Social/ ADLs
Behavioural
2 wks Some tone,
does not slip
through
hands
4 wks Head control Hands in Cries w/ loud Prefer to look
turns head fists noise at faces
side to side Listens to
while lying speech
down
6 wks Head control Smiles
while held up. appropriately
2 mths Extended Reaches/ Stares at spot Follows
forward bats at where object moving people
objects was placed if with eyes
quickly
removed or
covered.
3 mths Push up Grasp (4th Coos Smiles
prone on & 5th Recognizes socially and to
arms fingers) moms voice familiar voices
Turns head Brings toys
Can bear to midline
weight with
locked knees
when held
around chest
100%
4 mths Log roll (front Grasp Coos, Stares at own
Depende
back) objects if squeals, hand
nt
Sits if midline gurgles
propped up with both
by pillows hands
Stands with Whole
support at hand
hands grasp
w/out
thumb
5 mths Log rolls Reaches Laughs, Responds to
both direction for toys coos, NO
gurgles
Notices new
sounds
6 mths Sits Transfer Babbles, Uses babbles/ Raises arms
unsupported objects responds to sounds to for up
Plays w/ feet from hand- tone express Enjoys social
hand changes in emotions play.
Ulnar voices Stranger
grasp anxiety starts
7 mths Belly crawl Starts to May try to Responds to
Plays while grasp with imitate simple one
sitting thumb speech step
May attempt commands
pull to stand Gestures to
Stands on express
tiptoes when emotion
46
supported at
hands
8 mths Full crawl Ba Da Ka Uncovers toy
Sit up on Imitates if covered by
knees something
9 mths Pull to stand Early Recognizes Games Pat-
+/- cruise w/ 2 pincer with words (e.g. a-cake
hands & body straight bottle) Peek-a-boo
semi-turned wrist Responds to Waves bye
Falls to sit name
from stand
10 Plays while Mama, Dada Shouts for
mths standing Responds to attention
Can lower simple
self to sit commands
12 Walks (or Overhand 2-3 words Imitates Use
mths very close) pincer other than during play sippy
Stands grasp w/ mama, dada cup
unsupported wrist Recognizes
extension more words
(Cheerio Imitates
test) speech
15 Walks without Scribble Jargon Points to
mths support Build 2 needs/wants
cube tower
Draw lines
18 Stairs 2 Build 3 10-20 words Pretend play Eats with
mths feet/step with cube tower Follows with object spoon
help some (but
advancing messy)
commands
21
mths
24 Stairs 2 Build 6 Combines Make believe Temper Takes off
mths feet/step cube tower words play tantrums socks
w/out help 25% Points to Parallel Play and
Runs intelligible object/ picture shoes/
Kicks ball when named. helps
dress
2.5 yrs 50%
intelligible
3 yrs Tricycle Turn book Sentences, Toilet
Stands on page one plurals training
one foot @ a time 75%
Stairs 1 Copy circle intelligible
foot/step & cross Counts to 10
4 yrs Hops on one Draw Tells stories Cooperative/
foot circles & Knows Interactive
squares colors play
5 yrs Bike Draw Knows Zippers
Skips triangles alphabet and
Future tense buttons
47
APPENDIX 8 CURRENT IMMUNIZATION SCHEDULE
http://www.health.gov.on.ca/en/public/programs/immunization/docs/schedule.pdf
(ONTARIO)
48
APPENDIX 9: ASSESSMENT OF SEVERITY OF DEHYDRATION
Mild Moderate Severe
2 years of age 5% weight loss 10% weight loss 15% weight loss
49
APPENDIX 10: TANNER STAGING
FEMALE
1. Breast Staging
Stage 1
Prepubertal Elevation of papilla only
Stage 2
Enlargement of the areola and elevation of the breast
and papilla (Breast Buds)
Stage 3
Enlargement of the breast and areola with no separation
of contour
Stage 4
Areola and papilla form a second mound above the
breast
Stage 5
Mature Breast, even contour, no second mound.
MALE
1. Genitals (testicles and penis)
Stage 1
Prepubertal
Stage 2
Enlargement of testes (>4 mL volume) and scrotum with
reddening of scrotal skin.
Stage 3
Growth of penis, primarily in length, with further increase
in testicular and scrotal size.
Stage 4
Further increase in penile length and circumference with
development of glans, increase in testicular and scrotal
size.
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Stage 5
Adult size and shape.
2. Pubic Hair
Stage 1
Prepubertal
52
Stage 2
Sparse, long, straight, slightly pigmented hair at penile
base.
Stage 3
Darker and curlier with increased distribution on pubes.
Stage 4
Adult-type hair limited to pubes with no spread to medial
thighs.
Stage 5
Mature distribution with spread to medial thighs and up
to lower abdomen.
53
APPENDIX 11: FEEDING SCHEDULE
Reference:
http://www.cps.ca/en/documents/position/nutrition-healthy-term-
infants-6-to-24-months
54
APPENDIX 12: GROWTH CHARTS
55
56
57
58
59
60
61
62
References
www.cdc.gov/growthcharts
www.health.gov.on.ca/english/providers/program/immun/pdf/schedule.pdf
www.uptodate.com
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