Pediatrics Physyical Thrapy Forfinal Years DPT-1

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PEDIATRIC PHYSICAL
THERAPY
Edited by:
Dr. Ameer Jamali
For:
DPT Final Year
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CONTENTS
S.# Topics Page #

1) History Taking in Pediatrics 01 – 06
2) Cerebral palsy 08 – 09
3) Cystic fibrosis 12
4) Hemophilia 13 – 14
5) Poliomyelitis 15
6) Talipes Equinovarus (Clubfoot) 16 – 18
7) Torticollis 19
8 General Pediatrics 20– 29

9 Orthopedics/Bone joint 30
10 Back disorder 33– 37
11 Hip dislocation 38– 39
12 Angular deformities/rickets 40-41
13 42 – 43
Tibial torsion/foot deformities
14 Rheumatology/jia 44
15 Neurology /headache 48-54
16 Malformation brain 58
17 SMA/NMD 59-68
18 Pulmonology/ref 69 -80
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HISTORY TAKING IN PEDIATRICS

Contents:
1. History Taking in Pediatrics
2. Vaccination
3. Newborn Examination
4. Cardiovascular Examination
5. Respiratory Examination
6. Gastrointestinal Examination
7. Growth Assessment
Before starting any examination:
o Wash your hands.
o Introduce yourself to the parents and the child.
o Explain to the patient, take permission and maintain privacy.
r4Respect the child presence and establish a relationship.
o Consider starting with auscultation if the child is quite.
o After you finish, thank the child and cover him\her.
History Taking in Pediatrics
Demographics
o Name, age, gender, nationality, origin, and address.
o Source of history (parent, grandparent etc.).
Chief Complaint
o Onset and duration using the patient's words.
INFANT AND CHILD
Identification details
1. Date and time
2. Referral from
3. Name
4. Age and sex
5. Accompanying adult(s)
Problem list/chief complains/should be recorded in chronological order i.e longest duration

mentioned ist and shortest in last e.g
1. fever ……………………..15days
2. Vomiting . . . . . . . . . . . . . .10days
3. loose motion……………….5days
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History of presenting complaint/HOPI
Expand and clarify;

1. Define/ Duration?
2. Confirm what the patient means.
3. Site, onset, duration, course, frequency, and progression.
4. Relation to time and food.
5. Severity, restriction from usual activities, and school missing.
6. Relieving and aggravating factors.
7. Associated symptoms
8. Visits to GP/A&E?
9. Treatment given?
10. Travel, contacts (infectious diseases)
Past Medical History

1. Similar problem before.
2. Chronic illness: Asthma, DM
3. Previous medical or surgical incidences.
4. Previous Admissions or blood transfusion.
Medication and Allergy history;
Pregnancy and Neonatal History/BIRTH HISTROY
Pre-natal:
✓ Booked un booked case
✓ Medications: Folic Acid, steroid, and AEDs.
✓ Ultrasound and follow up.
✓ Complications during pregnancy: IUGR.
✓ Mother illness: TORCH, gestational diabetes.
✓ Radiation exposure.
Natal:
✓ Gestational age: Term/preterm/post term(38 0r below 37 or above 40)
✓ Mode of delivery: home or hospital/SVD/ C section
✓ Birth weight (2.5 t03.5kg)
✓ Duration labour
✓ APGAR score
Post-natal:
✓ Cry after birth or not

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✓ NICU Admissions (cause and duration).

Nutritional History/Feeding
✓ Breast fed or Formula?

✓ For how long?
✓ Frequency and amount of daily intake.
✓ Behavior during and after feeding.
✓ Vomiting and allergies. If Breast fed: one or both breasts, direct or expression,
difficulty in technique, and breast disease.
✓ If formula: What type? Who prepare it? How?
✓ Time of weaning.
✓ Time of introduction to solid or semi-solid food.
✓ Supplements (e.g. Calcium).
Immunization History
1. Type of vaccination
2. Ask the parents to show you the card.
3. If missed any, ask for the reason.
4. Oral or injectable
Family and Social History
✓ Family pedigree.
✓ Similar problem in any member of the family.
✓ Genetic, metabolic, or chronic diseases in the family.
✓ Parent's age, job, education, and consanguinity.
✓ All siblings: Either Alive, dead.
✓ Abortion.
✓ Accessibility to Hospital
✓ Who’s taking care of the other siblings?
✓ Effect of the problem to the family.
✓ Income status (type of job, home –rented or owned-).
Growth and Developmental History:
✓ Physical growth: Height, weight, and head circumference.

✓ Developmental milestones:
Newborn Examination
General Examination
➢ Vital signs (HR: 140-160, RR: 40-60
➢ temperature 97.5 to 98.5 )
➢ Growth parameters: Length (50 cm)
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➢ Weight (2.5-3.5 Kg) and head circumference (35 cm). then plot
General Appearance:
Alertness and movements.

✓ Color (Cyanosed or pink).
✓ Respiratory distress (Flaring, retraction, cyanosis, grunting).
✓ Connection to monitors or IV line.
✓ Skin:
✓ Pallor and jaundice.
✓ Birth marks, hemangioma, mongolian blue spot.
✓ Rash: e.g. Erythema toxicum.
✓ Edema:Generalized (hydrops), localized (hands and feet in Turner
Syndrome).
Head:
Size:
1. Microcephaly: TORCH, familial.
2. Macrocephaly: Hydrocephalus, familial achondroplasia.
3. Shape: e.g. Brachycephaly.
4. Fontanelles: Soft, not pulsating or bulging.
5. Anterior: wider and closes around 1 year to18month.
6. Posterior: smaller and closes around 2-4 months.
Sutures (coronal and sagittal):
✓ Wide: hydrocephalus, rickets.
✓ Ridging: Craniosynstenosis.
Masses:
✓ Cephalohematoma: Blood collection under the periosteum which does not
cross suture lines. Might lead to jaundice.
✓ Caput succedaneum: Skin edema of the presenting part.
✓ Subglial hematoma: Dangerous, boggy around the head.
Face:
✓ Dysmorphic features: E.g. Down syndrome.
Ears:
✓ Low set ears.

✓ Periauricular tags (Renal problem).
✓ Tympanic membrane (dull gray).
Eyes:
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✓ Microphthalmia: in Congenital rubella.

✓ Buphthalmus (corneal diameter >12mm): Congenital glaucoma.
✓ Slant of palpebral fissure (upward or downward).
✓ Hypotelorism or hypertelorism.
✓ Subconjunctival bleeding (self-limiting).
✓ Coloboma of the iris or lids (syndromes).
✓ Aniridia (Wilm'stumour).
✓ Red reflex (cataract if absent).
✓ Leukokoria (white pupillary reflex): Retinoplastoma.
Mouth:
✓ Central cyanosis.
✓ Large tongue: hypothyroidism, Pierre Robin syndrome.
✓ Palate: Cleft lip and palate, high arched palate.
Neck:
✓ Normally short.
Swelling:
✓ Goiter, Thyroglossal cyst.
Skin:
✓ Redundant (Down syndrome), webbed (Turner syndrome).
Clavicle:
✓ Fracture.
Respiratory:
✓ Inspection: Movement, symmetry, and deformity (pectus, nipple space).
✓ Auscultation: Air entry, breath sound, and additional sounds
Cardiovascular:
✓ Pulse (Brachial and femoral): Rate, rhythm, volume, etc.Weak femoral pulse
+ higher BP in upper limb Coarctation of the aorta.
✓ Palpation: Dextrocardia.
✓ Auscultation: S1, S2, gallop, murmurs (innocent or pathological).
Abdomen:
✓ Scaphoid (diaphragmatic hernia) or distended.
✓ Umbilicus: 2 arteries and 1 vein, sign of infection, omphalocele.
✓ Organomegallyand Hernia.
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✓ Bowel sound and bruit.

Genitalia:
✓ Sex and ambiguity.

✓ Urethral meatus: Hypospadias and epispadias.
✓ Scrotum: Un-descended testis, hydrocele.Imperforate hymen and fusion of
labia.
✓ Anus: Imperforate anus.
✓ Hyperpigmentation of the genitalia: CAH and High ACTH.
Musculoskeletal:
Hands and Feet:
✓ Size and shape.
✓ Digits: Polydactyly, syndactyly.
✓ Feet: Club feet (TalipesEquinovarus).
Back:
✓ Spina bifida: Hair tuft, dimples, hemangioma, sinus.

✓ Mongolian spot.
✓ Deformity: Scoliosis.
Hips:
✓ Barlow’s:TryingtoTestdislocate the hip with adduction andpushing
Posteriorly.
✓ Ortolani’sTrying to locateTest:thehip with abductionlifting the hip

forward.
Neurological Exam:
✓ GCS
✓ Bulk /Tone /Power: Observation of the movement.
✓ Reflexes: Knee, ankle./Planters
✓ Primitive reflexes:Moro/sucking/ Landu/ Steping/parachute/
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CEREBRAL PALSY
Definition:
A non progressive impairment of muscular function and weakness of the limbs, insult
brain caused by lack of oxygen to the brain immediately after birth, brain injury during
birth, or viral infection
Causes::
•
Gene mutations that result in genetic disorders or differences in brain development
• Maternal infections that affect the developing fetus
• Fetal stroke, a disruption of blood supply to the developing brain
• Bleeding into the brain in the womb or as a newborn
• Infant infections that cause inflammation in or around the brain
• Traumatic head injury to an infant, such as from a motor vehicle accident, fall or
physical abuse
• Lack of oxygen to the brain related to difficult labor or delivery, although birth-related
asphyxia is much less commonly a cause than historically thought
Risk factors
Maternal health:(TORCH)
• Toxoplasmosis. This infection is caused by a parasite found in contaminated food,
soil and feces of infected cats.
• Other conditions.
• Zika virus infection. This infection is spread through mosquito bites and can affect
fetal brain development.
• Intrauterine infections. This includes infections of placenta or fetal membranes.
• Exposure to toxins. One example is exposure to methyl mercury.
• Syphilis. This is a sexually transmitted bacterial infection.
• Hiv/hepB
• RUBELLA(German measles ) This viral infection can be prevented with a vaccine
caused pda and microcphaly
• Cytomegalovirus. This common virus causes flu-like symptoms and can lead to birth
defects if a mother has her first active infection during pregnancy.
• Herpes. This infection can be passed from mother to child during pregnancy,
affecting the womb and placenta.
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Infant illness
Illnesses in a newborn baby that can greatly increase the risk of cerebral palsy include:
• Bacterial meningitis. This bacterial infection causes inflammation in membranes
surrounding the brain and spinal cord.
• Viral encephalitis. This viral infection similarly causes inflammation in membranes
surrounding the brain and spinal cord.
• Severe or untreated jaundice. Jaundice appears as a yellowing of the skin. The
condition occurs when certain byproducts of "used" blood cells aren't filtered from
the bloodstream.
• Bleeding into the brain. This condition is commonly caused by the baby having a
stroke in the womb or in early infancy.
Factors of pregnancy and birth
While the potential contribution from each is limited, additional pregnancy or birth factors
associated with increased cerebral palsy risk include:
• Low birth weight. Babies who weigh less than 5.5 pounds (2.5 kilograms) are at
higher risk of developing cerebral palsy. This risk increases as birth weight drops.
• Multiple babies. Cerebral palsy risk increases with the number of babies sharing
the uterus. The risk also can be related to the likelihood of premature birth and low
birth weight. If one or more of the babies die, the survivors' risk of cerebral palsy
increases.
• Premature birth. Babies born prematurely are at higher risk of cerebral palsy. The
earlier a baby is born, the greater the cerebral palsy risk.
• Delivery complications. Problems during labor and delivery may increase the risk
of cerebral palsy.
Complications (cp)
• Contracture.
• Malnutrition
• Mental health conditions. Such as depression. Social isolation and challenges of
coping with disabilities can contribute to depression.
• Heart and lung disease. People with cerebral palsy may develop heart disease,
lung disease and breathing disorders. Problems with swallowing can result in
respiratory problems, such as aspiration pneumonia.
• Osteoarthritis. Pressure on joints or abnormal alignment of joints from muscle
spasticity may lead to the early onset of this painful degenerative bone disease
• Osteoporosis. Fractures due to low bone density can result from several factors
such as lack of mobility, inadequate nutrition and anti-epileptic drug use.
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•Other complications. These can include sleep disorders, chronic pain, skin
breakdown, intestinal problems and issues with oral health
Examination
INSPECT: obvious dysmorphism, gross microcephaly, abnormal movements
MOTOR SYSTEM…. GAIT: unable to walk hypotonic/paraplegia/quadriplegia
Limp…..DDH, Hemiplegic CP Complete upper & lower limbs examination, tone, power,
reflexes, planters
Superficial reflexes, cremesteric reflex
FACE…possible nerve palsies, facial nerve involvement, drooling, Primitive
reflexes.OFC/head size
Developmental assessment
Abdomen (GIT)… liver, spleen….torch, storage
CVS
SPINE…. Scoliosis, bed sores
LABS: CT/MRI brain, metabolic screening, karyotyping, TORCH screening
Management: multidisciplinary approach
✓ Paediatrican. Treat recurrent UTI/ARI
✓ Physiotherapist. Physiotherapy. Spasticity. Baclofen,Botulism, Ternaline
✓ Speech therapist… speech therapy
✓ Occupational therapist
✓ Hearing Aids
✓ Orthopedician. surgery for contractures, Tendon release procedures
✓ Nutrionist. Nutritional rehabilitation
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CYSTIC FIBROSIS
Definition:
Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder

characterized by pulmonary manifestations, specifically chronic and progressive lung
disease,sinusitis, malabsorption due to pancreatic exocrine insufficiency leading to
malnutrition,liver disease (biliary cirrhosis), and CF-related diabetes mellitus.
Clinical manifestation;
GIT: chronic diarrhea, oily bulky stools, vomiting, gastric pain, abdominal pain, heart burn),
pancreatitis+ gall stonesCLD(chronic liver disease)… jaundice, hematemesis, melena,
abdominal distensionbody: short stature/Immune def…. recurrent abscesses, oral thrush, ear and
chest infection
COMPLICATIONS:
1. Debits Miletus… polyphagia, polydypsea, polyuria
2. Arthropathy… joint pain
3. FTT/ short stature
4. Delayed puberty
5. Pneumothorax
6. Vitamins ADEK def….. night blindness, bone pains , gait disturbance, bleeding
DIAGNOSIS…history plus
Labs done: blood tests, CXR,CT scan,sweat Chloride test, stool test, echo
Test for complications
Treatment
1. Multidisciplinary team
2. Specialist pediatricians or adult physicians
3. Specialist nurses
4. Specialist physiotherapists
5. Specialist dietitians specialist
6. Pharmacists specialist
7. Clinical psychologists.
8. support treatment; hospitalizations, Inhaler, nebulized antibiotics, chest physiotherapy
9. I/V or oral antibiotic,
10. Enzyme replacement, vitamin and salt tablets
11. Lung and liver transplant
12. Gene therapy
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HEMOPHILLIA
HEMOPHILIA A (factor VIII deficiency) and HEMOPHILIA B (factor IX deficiency) are the
most common and serious congenital coagulation factor deficiencies.
HEMOPHILIA A / B
Deficiencies of factors VIII and IX are the most common severe inherited bleeding disorders.
CLINICAL MANIFESTATIONS
Neither factor VIII nor factor IX crosses the placenta.
• Bleeding symptoms may be present from birth or may occur in fetus.
• Only 2% neonates with hemophilia sustain intracranial hemorrhages.
• 30% of male infants with hemophilia bleed with circumcision
• Obvious symptoms such as easy bruising, intramuscular hematomas,
• Bleeding from minor traumatic lacerations of mouth (a torn frenulum) may persist for hours
or days and may cause the parents to seek medical evaluation.
• Even in patients with severe hemophilia, only 90% have evidence of increased bleeding by
1 yr of age.
• Although bleeding may occur in any area of the body, the hallmark of hemophilic bleeding
is hemarthrosis.
• Bleeding into joints may be induced by minor trauma
• The earliest joint hemorrhages appear most commonly in the ankle.
• In the older child and adolescent, hemarthroses of knees and elbows are also common.
• Repeated bleeding episodes into the same joint in a patient with severe hemophilia may
become a “target” joint→Recurrent bleeding may then become spontaneous because of
the underlying pathologic changes in the joint.
• Life-threatening bleeding in the patient with hemophilia is caused by bleeding into vital
structures (central nervous system, upper airway) or by exsanguination (external
trauma, gastrointestinal or iliopsoas hemorrhage).
LABORATORY DIAGNOSIS :
SPECIFIC:
• FACTOR LEVELS—VIII+ IX.
• APTT –(PROLONG) in severe -2-3 times >>normal. (screening test)
• platelets count.
• Bleeding time(BT)
• prothrombin time
• Thrombin time
• mixing studies –(if doesn’t correct it mean inhibitor is formed)
• Bethesda test –(quantitative test that measure antibody titre-- inhibitor)
• 25-35% pt who receive factor viii/ix develop antibodies—inhibitor.
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Differential Diagnosis
1. Severe thrombocytopenia.
2. Severe platelet function disorders, such as Bernard-Soulier syndrome and Glanzmann
Thrombasthenia.
3. Type 3 (severe) von Willebrand disease.
4. vitamin K deficiency
Treatment
• When mild to moderate bleeding occurs, values of factor VIII or factor IX must be raised
to hemostatic levels, in the 35-50% range.
• For life-threatening or major hemorrhages, the dose should aim to achieve levels of 100%
activity.
• If target joints develop, “secondary” prophylaxis is often initiated.
• With mild factor VIII hemophilia, patient's endogenously produced factor VIII can be
released by the administration of desmopressin acetate (DDAVP).
• Desmopressin is not effective in the treatment of factor IX–deficient hemophilia.
• FFP and Cryoprecipitate
SUPPORTIVE CARE
• Should avoid trauma.
• Effective measures include anticipatory guidance, including the use of car seats, seatbelts,
and bike helmets.
• Older boys should be counseled to avoid violent contact sports, but this issue is a challenge.
• Boys with severe hemophilia often sustain hemorrhages in the absence of known trauma.
• Patients with hemophilia should avoid aspirin and other nonsteroidal anti-inflammatory
drugs that affect platelet function.
• The child with a bleeding disorder should receive the appropriate vaccinations against
hepatitis B, even though recombinant products may avoid exposure to transfusion-
transmitted diseases.
• Patients exposed to plasma-derived products should be screened periodically for hepatitis
B and C, HIV, and abnormalities in liver function.
COMPLICATIONS
• Chronic arthropathy.
• Development of an inhibitor to either factor VIII or factor IX.
• Joint deformity
• Risk of transfusion-transmitted infectious diseases
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PROPHYLAXIS:
1. PRIMARY
2. SECONDARY
3. FULL DOSE
4. PARTIAL DOSE
GENETIC COUNCELLING:
• DNA Analysis : Detect abnormal gene on chromosome
• CARRIER DETECTION
• CVS –9 weeks –A/N detection. – 1% risk of abortion.
PROGNOSIS
• Cure seen in pt of liver transplantation
• Recent advance; Gene therapy.
POLIOMYELITIS
Polio (also known as poliomyelitis) is a highly contagious disease caused by a virus that attacks
nervous system. Children younger than 5 years old are more likely to contract the virus than any
other group.
Epidemiology
1. Humans are the only reservoirs
2. Three serotypes: Types 1, 2, and 3;
3. type 2 eradicated globally; type 3 not seen since 2012;only type1 currently circulating
4. Paralytic disease caused by wild type or live, oral vaccine virus
5. Two type vaccine Oral polio and injectable
CLINICAL MANIFESTATIONS
• Incubation period 8-12 days, with a range of 5-35 days.
• Asymptomatic infection in 70%
• Fever and sore throat in 25%
• Aseptic meningitis in 1–5%
• Flaccid paralysis in a descending manner without reflexes in –Follows febrile illness–
Symmetric paralysis affecting proximal muscles–Cranial nerve and
diaphragm/intercostal muscle involvement may affect respiration–33% recover
• Affects anterior horn cells in spinal cord
Diagnosis
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• (WHO)recommends diagnosis of poliomyelitis confirmed by isolation and identification

of poliovirus in stool,
• 2 stool specimens should be collected 24-48 hr apart as soon as possible after diagnosis
suspected.
• Polioviruses may be isolated from 80–90% of specimens from acutely ill patients,
• Cell culture of pharynx, stool, and CSF
Treatment
• Supportive
• Bed rest no i/m injection
• Physiotherapy
TALIPES EQUINOVARUS (CLUBFOOT)
1. Clubfoot or congenital talipesequinovarus (CTEV)term used to describe deformity

involving malalignment of calcaneotalarnavicular complex.
2. Components of this deformity may be best understood using mnemonicCAVE (cavus,
adductus, varus, equinus).
3. The clubfoot deformity may be positional,congenital,associated with variety of
underlying diagnoses (neuromuscular or syndromic),or focal dysplasia of
musculoskeletal tissue distal to knee.
4. The congenital clubfoot can either be idiopathic or syndromic.
5. Clubfoot is also extremely common in patients with myelodysplasia, arthrogryposis, and
chromosomal syndromes such as trisomy 18 and chromosome 22q11 deletion syndrome
6. Congenital clubfoot is seen in approximately 1 in 1,000 births and most likely results
from a complex multifactorial polygenic inheritance.
7. The risk is approximately1 in 4 when both a parent and one sibling have clubfeet.
8. It occurs more commonly in males (2 : 1) and is bilateral in 50% of cases.
9. CLINICAL MANIFESTATIONS :
10. Complete physical examination to rule out coexisting musculoskeletal and
neuromuscular problems.
11. Internal tibial torsion, foot length shortening, and leg-length discrepancy
12. There ishigher association of CTEV and DDH than in general population
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13. Diagnosis :By Xray

14. TREATMENTNonoperative techniques included taping and strapping, manipulation
and serial casting,
15. Surgical release, which was usually performed between 3 and 12 mo of age.
16. Stiffness remains a concern at long-term follow-up.
17. Physiotherapy for effected joints
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TORTICOLLIS
1. Clinical finding of tilting head to one side in combination with rotation of face to opposite
side
2. May be associated with tight intrauterine space and other conditions that are related to
the same pathology of tight uterine cavity (e.g., congenital dysplasia of hip
3. Orthopedic causes of torticollis include:–Congenital muscular torticollis, C1–C2
subluxation, and upper cervical spine anomalies
4. Congenital muscular torticollis is most common cause of torticollis due to fibrosis of the
sternomastoid muscle.
5. May be related to birth injury or malformation within muscle
6. Non-orthopedic causes of torticollis include:–Sandifer syndrome (Gastroesophageal
reflux, hiatal hernia)Infection CNS Poblems or drug reaction (metoclopramide)
Diagnosis: is based on history, physical examination, and normal
7. Radiographs Imaging: CTof cervical spine

8. MRI: if neurological cause is suspected
9. Ultrasound helps to differentiate congenital muscular torticollis from other pathologies
10. Ophthalmology and neurology consult
Treatment
1. Congenital muscular torticollis: Aggressive physical therapy for stretching sternocleido

mastoid muscle
2. Referral to orthopedic surgeon:–If no improvement (release of muscle is indicated if no
improvement after 6 months of physical therapy)
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General Pediatrics
GROWTH
Background:
 Growth is affected by maternal nutrition and uterine size
 Genetic growth potential is inherited from parents and also depends on nutrition throughout
childhood
 Growth is affected by growth hormone, thyroid hormone, insulin, and sex hormones, all of which
have varying influence at different stages of growth
 Deviation from normally expected patterns of growth often can be first indication of an underlying
disorder
 Carefully documented growth charts serve as powerful tools for monitoring the overall health and
well-being of patients
 Key to diagnosing abnormal growth is the understanding of normal growth, which can be classified
into 4 primary areas: fetal, postnatal/infant, childhood, and pubertal
Weight:
 Healthy term infants may lose up to 10% of birth weight within the first 10 days after birth
 Newborns quickly regain this weight by 2 weeks of age
 0–3 months: weight gain is approximately 30 g/day
 Birth weight is expected to double by 5–6 months
Height:
 The height of a newborn increases by 50% or by 25.4 cm (10 in.) in the 1st year
 The height of a newborn doubles within 3–4 years
 After 2 years the height increases by an aver- age 5–6 cm/year
 There is a range of pubertal peak growth velocities of around 7–12 cm per year in boys and 6–10.5
cm per year in girls
Measurements:
 The length or supine height should be measured in infants and toddlers < 2 years
 Standing heights should be used if age >2 years
 For children between 2 and 3 years of age, it is best to measure both supine length and standing
height and compare 2 measurements
 Plot gestational age rather than chronological age for preterm infants
 Specific growth charts are available for special populations, e.g. trisomy 21, Turner syndrome,
Klinefelter syndrome, and achondroplasia.
Head circumference:
 Head circumference will increase by 12.7 cm (5 in.) in the 1st year
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Growth curve reading:

 Shifts across 2 or more percentile lines may indicate an abnormality in growth
 Weight loss is one of the first signs of malabsorption and of cases of malnourishment or neglect
 Primary linear growth problems often have some congenital, genetic, or endocrine abnormalities
Macrocephaly:
Definition
 Head circumference 2 standard deviations above the mean
Causes
 Benign familial macrocephaly with enlargement of subarachnoid space
 Hydrocephalus
 Intracranial hemorrhage or mass
 Genetic causes e.g., Soto syndrome, or “cerebral gigantism”
Benign familial macrocephaly )
 Most common cause (50%)
 Autosomal dominant; usually seen in one or both parents
 Document parental head size
 Reassure parents and child if child’s head size is congruent with familial sizes
 Periodic monitoring of the head size
 Periodic monitoring of physical growth and neurological development
 If the child’s head size is not congruent with familial sizes:
MICROCEPHALY
Definition:
 Head circumference 2 standard deviations below the mean
Causes:
 Congenital infections, e.g., TORCH (Toxo- plasmosis, Others, Rubella, Cytomegalovirus [CMV]),
Herpes simplex), Zika virus
 Maternal deprivation (folate deficiency, malnutrition, hypothyroidism)
 Maternal hyperphenylalaninemia
 Toxic or metabolic disorders
 Genetic conditions, e.g., trisomy 21.
PLAGIOCEPHALY (FIG. 1.1)
Background:
 Deformational flattening from lack of changes in head positions is the most common cause of
asymmetric head shape
Causes:
 Positional or supine sleeping is most common cause of plagiocephaly

 Craniosynostosis
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CRANIOSYNOSTOSIS
Primary craniosynostosis
 One or more sutures fuse prematurely while brain still increasing in size
 If one suture is involved, it is usually isolated
 If more than one suture is involved, it is commonly associated with genetic disorders
 Commonly associated with an increase in head size asymmetrically
Secondary craniosynostosis
 Primary failure of brain growth leads to early fusion of sutures and microcephaly
DEVELOPMENTAL MILESTONES
Tools for screening
 Denver Developmental Screening Test
 Ages & Stages Questionnaires (ASQs)
 Modified Checklist for Autism in
Toddlers (M-CHAT)
1 Month
Gross motor
 Legs more extended
 Head lifted momentarily to plane of body
on ventral suspension
 Chin up in the prone position
 Turns head in the supine position
Fine motor
 Hands fisted near the face
 Sucks well
Social/communication/problem-solving
 Begins to smile
 Gazes at black-white objects
 Watches person; follows moving object
 Body movements following sound
Language
 Startles to voice or sound
3 Months
Gross motor
 Lifts head and chest with arms in prone
position
deformational plagiocephaly, flattening on the left side,
 May roll to the side and ipsilateral frontal bossing
Fine motor
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 Brings hands together in the midline and to

the mouth
 Inspects their own fingers
 Bats at objects or toys
Social/communication/problem solving
 Follows parents across the room
 Expression of dislike for a taste or a loud
sound
 Regards hands and toys
Language
 Regards and vocalizes to parents when
talking
 Chuckles Fig. 1.5 Developmental milestone at 7 months: Sits steady
without support
6 Months
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Gross motor
 Begins to sit with minimal support
 Rolls over from back to front and front to back
 Supports weight on legs and might bounce
Fine motor
 Transfers objects from one hand to another
 Brings objects or food to the mouth
 Places hands on the bottle
 Bangs and shakes toys
 Rakes pellets
 Removes cloth on face
 Stranger anxiety
 Responds to own name
 Responds to sounds by making sounds showing joy and displeasure
Language
 Monosyllabic babble
 Looks at self in mirror and smiles
9 Months
Gross motor
 Can get into sitting position from lying down
 Pulls to stand
 Begins to crawl (Fig. 1.6)
 Bears walk with all limbs straight
Fine motor
 Radial-digital grasps of a block
 Bangs 2 blocks together
 Bites and chews cookie
 Pulls string to obtain a ring
 Separation anxiety
Fig. 1.6 at 9 months: Begins
 Recognizes familiar people to crawl
 May be afraid of strangers
Language
 Says “mamama” and “bababa” nonspecific
 Copies sounds and gestures of others
12 Months
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Gross motor
 Walks with one hand held
 Pulls up to stand, walks holding on to furniture (“cruising”)
 May stand alone and make a few steps without holding (Fig. 1.7)
Fine motor
 Fine pincer grasps of pellet
 Holds crayon and scribbles after demonstration
 Attempts tower of 2 blocks
 Finger feeds part of a meal
 Takes off a hat
 Puts out arm or leg to help with dressing
 Rattles spoon in a cup
 Puts a toy in a container, takes it out of the container
 Shows parents object to share interest
 Follows one-step command with a gesture
 Looks at the right picture or thing when it is named
 Points to get desired object (proto-imperative
pointing) and to share interest
 Uses several gestures when vocalizing (e.g., waving,
reaching)
Language
 Says a few words, including “mama,” “dada,”
24 Months
Gross motor
 Walks upstairs and downstairs holding rail
 Kicks a ball
 Throws ball overhand
 Stands on tiptoes
Fine motor
Fig. 1.7 Developmental milestone at 12 months: May
 In drawing, imitates horizontal line stand alone and make a few steps without holding
 Begins to sort shapes and colors
 Opens door using the knob
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 Begins to mask emotions for social etiquette

 Follows 2-step instructions or commands such as “Sit on your chair and eat your food”
 Points to 5–10 objects in pictures
Language
 Uses 2-word sentence
 Uses 50 or more words
 50% intelligible speech
3 Years
Gross motor
 Tricycle (3-wheeled bike)
 Balances on 1 foot for 3 seconds
Fine motor
 Copies a circle with pencil or crayon
 Imitates bridge of blocks
 Draws man with 2 to 3 parts
 Understands long/short, big/small, more/less
 Follows 3-step instructions or commands
 Fears imaginary things
Language
 Uses 3-word sentences
 Names body parts
4 Years
Gross motor
 Balances on 1 foot for 8 seconds
 Hops and stands on 1 foot up to 2 seconds
Fine motor
 Throws ball overhand more than 3 yards
 Catches a bounced ball most of the time
 Copies a square
 Goes to the toilet alone
Social/communication/problem solving
 Group play
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 Follows 3-steps commands and instructions

 Tells story and accurately counts 4 pennies
Language
 Knows some basic rules of grammar, such as correctly using “he,” “she,” “his,” “her”
5 Years
Gross motor
 Walks downstairs with rail, alternating feet
 Skips
Fine motor
 Copies a triangle
 Cuts with scissors
 Builds stairs with blocks from model
 Dresses and undresses
 Apologizes for mistakes
 Draws man with 8 to 10 parts
 Names 10 colors and counts to 10, counts 10 pennies correctly
Language
 Knows right from left
 Asks questions about the meanings of words and responds to questions
 Repeats 6 to 8 words in sentences
6 Years
Gross motor
 Tandem gait (heel-to-toe walks)
Fine motor
 Builds stairs from memory
 Copies a diamond shape
 Writes first and the last name
 Has a best friend of same gender
 Looks both ways at street when crossing
Language
 Knows days of the week
 Able to describe events in sequence
Fig. 1.8 Fine motor developmental milestones and ability to draw at different agesFig. 1.1 A 5-month-old-boy with
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16 months 18 months 2 years 3 years
4 years 4-1/2 years 5 years 6 years

Table 1.3 Developmental red flags for motor skills by age [4]
Age Language and social red flags

Newborn Does not respond to loud sounds
Does not alert to voice, lack of looking at faces
2 months
Does not watch things as they move
Does not coo or make sounds
4 months
Does not smile at people
Does not turn toward sounds; no smiling,
6 months
laughing, or expression
9 months Does not babble (“mama,” “baba,” “dada”)
Does not respond to name
Does not understand “no”
12 months
Indifferent or resistant attachment to the caregiver
Does not look where caregiver points
Does not use words “mama,” “papa,” “dada”
15 months
Does not point to the desired object
Does not gain new words
18 months Does not have at least 6 words
Does not point to show things to other or share interest
Unable to use two-word phrases (e.g., “drink
water”)
24 months
Unable to follow simple instructions Unable to imitate actions or words Unable
to maintain eye contact
Unable to use a three-word sentence
36 months
Unable to pretend, play, or make-believe
4 years Unable to speak clearly
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Unable to answer simple questions Unable to use pronouns (“I”, “me”, “you”,
“he”, and “she”) correctly
Ignores other children or does not respond to
people outside the family
Unable to use plurals or past tense properly
Unable to recognize shapes, letters, colors Unable to brush teeth, use toilet, wash
and dry hands, or get undressed without help
5 years
Unable to distinguish between reality and fantasy
Shows extreme behavior (unusually fearful,
aggressive, shy, or sad)
Unable retell or summarize a story
6–12
Unable to name friends
years
Unable to recognize the feelings of others
All ages Loss of skills they once had
Table 1.4 Developmental red flags for language and social skills by age [4]
Age Motor red flags
Newborn Hypotonia and feeding difficulty

Unable to hold head up when pushing up
2 months
when on tummy
Unable to hold head steady
4 months Unable to bring things to the mouth Persistent fisting (a predictor of
neurological dysfunction)
Unable to pass an object from one hand to
6 months
another and does not try to reach an object Floppy like a rag doll
9 months Unable to sit, not rolling
Unable to stand or bear weight on legs
12 months
when supported Unable to crawl
15 months Unable to do pincer grasps
18 months Unable to walk
4 years Unable to jump in place

Unable to draw pictures, a cross, or a
5 years square
Poor balance
Unable to skip or hop on one foot
6–12 years
Unable to write name
All ages Loss of skills they once had
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ORTHOPEDICS
Limping Child
Background
• Limping is a common complaint in pediatrics, a condition that may be due to pain,

weakness, or musculoskeletal deformities
• Growing pains usually do not cause limping
Causes
• Antalgic gait (limping because of pain)
✓ Osteomyelitis,transient synovitis,septic arthritis,toddler fractures, juvenile idiopathic
arthritis, Slipped capital femoral epiphysis (SCFE)
✓ Tumors: Ewing sarcoma, osteoid osteoma, acute leukemia, neuroblastoma
✓ Legg–Calve–Perthes disease
• Trendelenburg gait (weak hip abductors cause shift of body weight to the weak side)
✓ Developmental dysplasia of the hip (waddling gait when bilateral)
✓ Chronic SCFE/Chronic Legg–Calve–Perthes disease
✓ Muscular dystrophy (high creatine kinase [CK]),
• Circumduction (swing around and to the side)
✓ Leg-length discrepancy (also toe walking or steppage gait)
✓ Cerebral palsy with stiff gait
• Toe walking
✓ Idiopathic toe walking/Leg-length discrepancy
✓ Cerebral palsy (hypertonia of the gastrocnemius)
✓ Muscular dystrophy (high CK)
Diagnosis
• Based on detailed history and thorough physical examination
• Narrow the differential diagnosis by classifying the limp according to:
✓ Gait pattern
✓ Chronicity of limping
✓ Presence or absence of pain
✓ Age of the child
✓ Anatomic region involved
✓ Radiograph, bone scan, ultrasound, (MRI)/Complete blood count (CBC), erythrocyte
sedimentation rate (ESR), C-reactive protein (CRP), CK
BONE AND JOINT INFECTION/ INFLAMMATION
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Transient Synovitis
Background
• Nonspecific inflammation of the joint (may be related to viral infection or trauma)
Diagnosis (transient synovitis of the hip joint)

• Variable clinical pictures; hip pain, limping, inability to bear weight on the affected side,
or complete rigidity
• Markers of infection: Normal to mildly elevated
• Low-grade fever can be seen in some cases
Treatment
• NSAIDs, rest
Septic Arthritis
Background
• Bacterial inflammation of the synovium of the joint
• The most common route by bacteria enter a joint is by hematogenous spread to synovium
• Most common organism in general is Staphylococcus aureus
• In newborns, group B streptococcus is more common
• In sexually active adolescents, gonococcus is most common organism
• Most commonly affected joints: Hip, shoulder, and knee
Diagnosis
• General signs of infection (fever, chills)
• Swelling (effusion), rigidity of the joint (very limited ROM), tenderness, inability to bear
weight with lower extremity joints
• Elevated markers of infection (white blood cell count [WBC], ESR, CRP)
• Joint aspiration (arthrocentesis/ultrasound-guided aspiration of the joint fluid) for Gram
stain, culture, and cell count (cell count 50,000/mL is indication for septic arthritis)
Treatment
• Septic arthritis is an urgent surgical condition. Urgent orthopedic consult is needed for
urgent irrigation and debridement of the joint
Table 13.1 Differentiation between septic arthritis of the hip and transient synovitis
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Septic arthritis Transient synovitis
Fever Usually present Normal or mild elevation
ESR, CRP, WBC Usually elevated Normal or mild elevation
Inability to walk Common Rare
Positive for Gram stain +/− culture Negative for Gram stain and culture
Aspiration
Cell count > 50,000/ ml Cell count < 50,000/ml
Blood culture May be positive Negative
Table 13.2 Difference between septic arthritis, arthritis due to rheumatic fever, and juvenile
rheumatoid arthritis
Arthritis due to rheumatic

Septic arthritis Juvenile rheumatoid arthritis
fever
Acute onset
Acute onset Post- streptococcal Chronic > 6 weeks
Staphylococcusaureus most
infection Autoimmune disease
common cause
Painful, limited range of motion Very painful and migratory Joint swelling and limping
Usually one joint (a) More than one joint Usually more than one joint
Urgent surgical drainage/ Treatment of acute rheumatic Anti-inflammatory (see Chap.

irrigation and antibiotics fever 15, “Rheumatology”)
BACK DISORDERS
Back Pain
Background
• Common in adolescents and uncommon in young children

• Most cases of back pain in children have no identifiable cause
Causes
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• Infections: Diskitis, osteomyelitis

• Tumors: Osteoid osteoma or malignant tumors
• Bone cyst: Unicameral or aneurysmal
• Spine: Herniated intervertebral disc, spondylolysis, kyphosis
• Mechanical: Heavy backpack, musical instrument, or poor mechanics
• Postural hump back; activity related or pro-longed sitting
Clinical approach and diagnosis
• History: Fever, chills, weight loss, loss of appetite, loss of bladder or bowel control, and
unrelenting pain are all red flags of serious causes
• Physical examination: Inspect the spine for any deformities, sacral dimple, or swelling;
assess for leg-length discrepancies; gait observation and neurological examination
Investigations
• Depending on history and physical examination

• Best initial study is radiograph prior to any advance imaging Thoracic and lumbar AP and
lateral views
• Bone scan and MRI are helpful if the diagno-sis cannot be made by history, physical
examination, and radiographs
• Laboratory studies: CBC, ESR, and CRP if concern about infection or malignancies,
urinalysis if urinary tract infection is suspected, and human leukocyte antigen (HLA)-B27
if concern about ankylosing spondylitis or Reiter syndrome
Management
• Treatment of underlying cause

• Limit backpack weight to no more than 15% of body weight or use rolling bag instead of
a backpack
Spondylolysis
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Background
• Spondylolysis is a bone defect in pars interarticularis of the vertebra (Fig. 13.4)
Spondylolysis Spondylolisthesis
Fig. 13.4 Spondylolysis is the presence of defect in the pars of the vertebra. Spondylolisthesis is the “slippage” of
the vertebra above in relation to the vertebra below
• The condition is present in about 7% of ado-lescents and in up to 20% of participants in

sports that involve repeated extension of the back (football, gymnastics, and diving).
• Most commonly affected vertebra is L5, less common is L4
Diagnosis
• The condition is asymptomatic in the majority of cases

• The most common cause of non-muscular back pain in adolescents, low back pain that
increases with extension of the spine
• Straight leg raising test: Pain in the posterior thigh but usually does not extend distal to the
knee (hamstring tightness)
• Imaging’s scan will show the defect in the pars interarticularis
a b c
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Normal Spondylolysis
Fig. 13.5 Scottie dog collar sign. (a) Oblique view of the lumbar vertebrae has the shade of Scottie dog. (b) With spondylolysis, the
defect in the pars interarticularis gives the appearance of collar in the neck. (c) Oblique radiograph showing the defect in the pars
interarticularis and Scottie dog collar sign (arrow)
Treatment
• NSAIDs and rest from the sport until the pain decreases
• Adolescent can resume sport activity when they are pain-free
• Brace (lumbar corset)
• Orthopedic referral if no improvement (surgery is rarely indicated in spondylolysis)
Spondylolisthesis
Background
• Forward slippage of upper vertebra in relation to the vertebra below (see Fig. 13.4)
• There are two types of spondylolisthesis in children and adolescents:
− Dysplastic: Due to dysplastic lumbosacral articulation, about 15% of cases
− Ischemic: Due to pars defect (spondylolysis), most common type (about 85%)
Diagnosis
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• Low back pain with extension activities

• Hamstring tightness
• Radiographs: Forward slippage of L5 over S1
• The degree of slippage is expressed as a percentage of the vertebral width
Treatment
• Orthopedic referral: Surgical treatment is usually needed for high slip (> 50%)
• No contact sports if the slippage is more than 50% of the vertebral width
Scoliosis
Background
• Lateral curvature of the spine associated with a rotational element
• Types of scoliosis:
➢ Congenital: Due to bony deformity (vertebral column or chest wall)
➢ Neuromuscular: Due to neuromuscular causes (e.g., cerebral palsy, high-level spina
bifida, traumatic spinal cord injury, muscular dystrophies)
➢ Syndromic: Almost all syndromes can be associated with scoliosis (e.g., dysplasias,
connective tissue disorders, e.g., Marfan syndrome, osteogenesis imperfecta, Prader– Willi
syndrome, neurofibromatosis)
➢ Idiopathic: Most common cause. No underlying cause can be identified.
Idiopathic scoliosis is further classified according to the age of onset into:
o Infantile (scoliosis starts in the first 2 years of life)
o Juvenile (starts between 3 and 9 years old)
o Adolescent (starts at or after the age of 10 years), which is the most common type
(adolescent idiopathic scoliosis)
Diagnosis
• The condition is usually asymptomatic

• In advanced condition, the deformity can become more obvious:
− Unequal shoulder level, unequal breast sizes, and leaning toward one side
• Pain is not a symptom of AIS. If there is pain, MRI is recommended
• Physical exam: The ADAM forward-bending test will show thoracic hump
• Motor, sensory, and reflexes of the lower extremities are normal
• Scoliometer (a leveling assessment device used to objectively assess if one side of the body
is higher than the other side with for-ward-bending) will show 7° or more of rotation (an
indication for referral to orthopedic surgeon) (Fig. 13.6)
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Treatment
• Indication for referral to orthopedic surgeon:
➢ Curves more than 20°
➢ Curves more than 7° rotation by scoliometer
➢ Indications for bracing:
➢ Patients with significant skeletal growth remaining and more than 5° of curve progression
Curves more than 25°
• Indications for surgery
− Thoracic curves of more than 50° in skeletally mature children
− Thoracic curves of more than 45° in skeletally immature children
HIP DISORDERS
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Developmental Dysplasia of the Hip (DDH)

Background
➢ Ranges from complete dislocation of the hip joint (the femoral head is outside acetabulum)
to dysplasia of acetabulum (shallow acetabulum)
➢ More in: Female, firstborn, family history, breech presentation
➢ Can be associated with other conditions related to tight intrauterine position (e.g., tor-
ticollis and metatarsus adductus)
Diagnosis
• In neonatal period: Screening all newborns by Barlow or Ortolani test
• Hip ultrasound (before 4 months of age) or plain radiographs (after 4–6 months)
• Females with breech presentation or positive family history should be screened using
imaging study in addition to physical exam
• The limb length discrepancy can be detected by Galeazzi sign (flexing the hip and knee
and comparing the knee height) (Fig. 13.11) [1]
Risk factors for which the pediatrician may consider an imaging study in the child with a normal
screening with physical examination are [2, 3]:
• Breech position in the third trimester—both males and females
• Family history of DDH
• History of abnormal hip physical examination in the neonatal period,
Treatment
• Orthopedic referral (Pavlik harness for children less than 6 months; closed reduction and
casting for children 6–18 months; open reduction for children > 18 months)(PCO)
Fig. 13.8 Scheuermann

39 kyphosis.
(a) A 14-year-old boy

with increased thoracic
kyphosis.
(b) Lateral thoracic

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Table 13.3 Difference between developmental dysplasia of the hip (DDH), Legg–Calve–Perthes
disease (LCPD), and slipped capital femoral epiphysis (SCFE)
DDH LCPD SCFE
Toddler < 3 years Painless limp (infants

and toddlers) Older children: vague 3–10 years Painful limp Hip > 10 years Painful limp
activity-related discomfort due to leg- pain or knee pain Hip pain or knee pain
length discrepancy
Positive Ortolani and Barlow

Limited hip motion Decreased Limited hip motion
signs Galeazzi positive
internal rotation and abduction Decreased internal rotation
(unilateral) Waddling gait (bilateral)
Pelvis radiograph:
Hip ultrasound < 6 months Pelvis radiograph: AP and
Anteroposterior (AP) and frog-
Pelvis radiograph > 6 months frog-lateral viewsUrgent
lateral views Referral to
Referral to orthopedic referral to orthopedic
orthopedic
ANGULAR DEFORMITIES
Genu Varum (Bowleg)
Background
• Lower limb deformity in which lower legs are pointing toward midline (Bowleg) (Fig13
• Common causes of genu varum in children include:
• Physiological development up to age of 2 years:
• The normal alignment of children is genu varum until the age of 2 years, and then alignment
changes to valgus which reaches maximum around the age of 3 years
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Diagnosis
• Increase intercondylar distance (distance between two medial femoral condyles; see Fig. 13.20)
• Radiographs will identify the underlying pathology
Treatment
• Physiological cases: No treatment needed, should improve by the age of 3 years
Indication for plain radiographs in cases of genu varum (possible need for orthopedic referral):
• Persistence of genu varum after 24 months or worsens after age 1 year

• Unilateral genu varum
• Severe genu varum (clinical angle between thigh and leg of more than 20° or intercondy-
lar distance of more than 6 cm)
• If suspecting general medical condition (e.g., rickets)
Genu Valgum (Knock-Knee)
Background
• Lower limb deformity in which lower legs are pointing away from midline (knock-knee)
• Common causes of genu valgum in children include:
✓ Physiologic genu valgum (around the age of 3 years)
✓ Metabolic:Rickets and renal osteodystrophy
✓ Post-traumatic physeal arrest
✓ Proximal tibial fractures
Diagnosis
• Increased intermalleolar distance (distance between two medial malleoli;
• Radiographs will identify the underlying pathology
Treatment
• Physiological cases: No treatment needed, should improve by age of 8 years. Other causes
of genu valgum will require orthope-dic consultation
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Internal Tibial Torsion

Background
• Inward rotation of the shaft of the tibia. It is considered normal finding in newborn/ infants
due to intrauterine position
• Internal tibial torsion is most common cause of intoeing in infants around the age of 2–3
years
Diagnosis
• With the child lying prone flexing the knee, the foot will be pointing inward in relation to
the thigh (thigh foot angle) (Fig. 13.26) [1]
Treatment
• No treatment is required. The condition usu-ally resolves spontaneously over the first few
years of life
FOOT DISORDERS
Clubfoot (Talipes Equinovarus)
Background
• Complex rigid deformity of the ankle and the foot
• Unknown etiology: May be related to muscular, neurogenic, genetic,
• Affects 1 in 1000 live births. More common in boys (2:1). 50% of cases are bilateral
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Types:
✓ Idiopathic: No other congenital condition can be found. Most common type
✓ Postural: Due to posture of newborn in uterus. The deformity can be corrected easily
by the examiner. Not considered real clubfoot
✓ Syndromic:congenital conditions associated, such as arthrogryposis and diastrophic
dwarfism
✓ Neuromuscular conditions: Myelomeningocele and cerebral palsy
Diagnosis
• Rigid deformity (cannot be corrected by the examiner)

• Clubfoothas three main deformities (Fig. 13.28)
➢ Ankle and foot equinus (plantar flexion of the ankle and the foot)
➢ Hindfoot varus (inward deviation of the heel)
➢ Forefoot adduction (inward position of the forefoot in relation to the hindfoot)
• Other components: High-arched foot (cavus) and internal tibial torsion of the leg
• Clubfoot is a clinical diagnosis; no radio-graphs are needed
Treatment
• Orthopedic referral: Two treatment options are currently utilized:

− Serial casting: weekly change of cast
− Physical therapy and stretching
• Early orthopedic referral is needed to ensure early start of treatment
• After correction of the foot deformity, a brace (corrective shoes with a bar in between the
shoes to turn the feet outward) should be used for 2–3 years to prevent the recurrence
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RHEUMATOLOGY
ARTHRITIS
Juvenile Idiopathic Arthritis (JIA)
Background and Definitions
• Previous classification criteria include juve-nile rheumatoid arthritis and juvenile chronic
arthritis.
• Arthritis (Fig. 15.1):
➢ Joint stiffness is the most common symptom.
➢ Stiffness worsens with inactivity and improves with activity.
➢ Joint swelling.
➢ Pain (may be absent).
➢ Physical exam findings: joint effusion (swelling), joint warmth, decreased range of
motion, tenderness, and pain with range of motion.
• Enthesitis:
− Inflammation of the entheses (sites of ten-don or ligament insertion onto bone)
− Common sites: Achilles tendons, patellar tendons (2, 6, and 10 o’clock positions),
greater trochanter, metatarsal heads, and plantar fascia
• JIA is broadly defined as arthritis of one or more joints occurring for at least 6 weeks in
child younger than 16 years of age.
• The exact etiology is unknown, but
genetic and environmental factors
are involved.
• Exact incidence and prevalence is
unknown and varies with subtypes.
• Oligoarticular and polyarticular
subtypes are more common among
females.
• JIA is a clinical diagnosis; there is
no laboratory test that makes the
diagnosis.
• Other causes of arthritis (i.e.,
trauma, infection, malignancy) must
be ruled out before a diagnosis of
JIA is made (Table 15.1).
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Classification
Table 15.1 Differential diagnosis for child with arthritis
Autoimmune
Juvenile idiopathic arthritis
Inflammatory bowel disease
Systemic lupus erythematosus
Sjögren syndrome
Vasculitis (e.g., Henoch-Schönlein purpura, Kawasaki disease)
Neoplastic
Leukemia
Sarcoma
Pigmented villonodular synovitis (PVNS)
Trauma
Infection
Septic joint (most common pathogens: Staphylococcus spp., Streptococcus spp., Kingella
spp.)
Tuberculosis
Osteomyelitis
Lyme disease
Neisseria gonorrhoeae
Infection-associated
Acute rheumatic fever
Post-streptococcal reactive arthritis
Reactive arthritis
Hematologic diseases
Sickle cell disease
Hemophilia
Autoinflammatory diseases
Familial Mediterranean fever
Sarcoidosis/Blau syndrome
Cryopyrin-associated periodic syndrome (CAPS)
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Table 15.2 International League of Associations forRheumatology Classification of

Juvenile Idiopathic Arthritis(JIA) [1]
Category Definition
Arthritis and fever (> 2 weeks,documented quotidian

× 3 + days), plusone or more of the following:
Systemic onsetJIA evanescent erythematous rash,
generalized lymphadenopathy,
hepatosplenomegaly, serositis
Oligoarthritis Arthritis in < 4 joints in the first 6months of disease
Arthritis in > 5 joints during the first 6 months of

Polyarticularrheumatoidfactor (RF) Negative
disease and RF-negative
Arthritis in > 5 joints during the first 6 months of

Polyarticularrheumatoidfactor (RF) Positive
disease and RF-positive × 2at least 3 months apart
Arthritis and psoriasis or arthritis plustwo of the

Psoriatic arthritis following: dactylitis, nailpitting or onycholysis;
psoriasis in afirst-degree relative
Arthritis and enthesitis, or arthritis, orenthesitis, plus

two or more of thefollowing: sacroiliac joint tenderness
orinflammatory lumbosacral pain,HLA-B27 +; onset
of arthritis in a maleolder than age 6 years; acute
Enthesitis-related arthritis(ERA)
anterioruveitis; history of ankylosingspondylitis, ERA,
sacroiliitis withinflammatory bowel disease,
reactivearthritis, or acute anterior uveitis in afirst-
degree relative.
Arthritis that fulfills criteria for nocategory or two or

Undifferentiatedarthritis
more categories
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Laboratory Abnormalities in JIA

➢ JIA is a clinical diagnosis. It cannot be diagnosed by a blood test.
➢ Laboratory data help to exclude other causes of arthritis.
➢ Synovial fluid analysis can be helpful to rule out septic arthritis.
➢ Nighttime pain, pain out of proportion to exam, or abnormalities in complete blood count
(CBC) should prompt workup for leu-kemia or lymphoma. Consider screening with uric
acid and lactate dehydrogenase level.
➢ CBC may be normal. May show normocytic anemia
➢ Inflammatorymarkers C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) may
be normal or elevated.
➢ Expect to see elevated CRP, ESR, and ferritin in untreated systemic-onset JIA.
➢ ANA is present in ~50% of children with JIA but is not helpful for making diagnosis. ANA
status is helpful for outlining risk of uveitis (see below). Positive ANA may be detected in 10–
30% of healthy pediatric population or after infection. Immunofluorescence method is the gold
standard test method.
➢ Only 10% of children with JIA are RF positive.
Imaging
• Conventional radiographic imaging may be normal, especially in acute setting.
• Ultrasound may be useful to detect joint effusions.
• Magnetic resonance imaging (MRI) with-out contrast can detect synovitis and joint damage
(joint space narrowing, bony erosions).
• Synovial enhancement (indicating active disease) may be better seen with addition of
contrast to MRI protocol.
Complications ofJIA
• Osteopenia/osteoporosis may occur.
• Muscle atrophy, limb length discrepancy, or permanent joint damage.
• Untreated arthritis can lead to permanent skeletal deformity.
• Psychosocial factors such as anxiety and school absenteeism.
• Macrophage activation syndrome.
• Uveitis.
Treatment ofJIA
Nonsteroidal Anti-inflammatory Drugs (NSAIDs)
• The most commonly used NSAIDs in children include ibuprofen, naproxen, meloxicam,
celecoxib, and indomethacin.
• NSAIDs usually insufficient to control most forms of arthritis.
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Steroids
• Intra-articular corticosteroid injections.
• Oral or intravenous (IV) corticosteroids may be used
Disease-Modifying Antirheumatic Drugs (DMARDs)
• Methotrexate:
Biologics
• Anti-TNF-alpha agents:
• Anti-IL-6 agent:
• Anti-IL-1 agents:
• Abatacept (T-cell co-stimulator inhibitor) and rituximab (anti-CD20) are less commonly
used agents.
Prognosis
• Varies based on subtype.
• Approximately 50% of children who have JIA continue to have active disease into
adulthood.
• Poor prognostic factors include arthritis of hip, cervical spine, ankles, or wrists,
NEUROLOGY
Febrile Seizures
• Affects 2–5% of children
• Most common childhood seizure type (6 months to 5 years)
• Simple febrile seizure
➢ Brief generalized seizure
➢ Less than 15 min
➢ Does not recur within 24 h
➢ Febrile illness not involving the central nervous system (CNS)
• Complex febrile seizure
➢ Can have focal features
➢ Prolonged (> 15 min)
➢ Recurs within 24 h of febrile illness
• Evaluation
➢ Depends on clinical presentation
➢ Ask about vaccination history
➢ Consider meningitis/encephalitis if child is very sick; mental status changes, meningeal signs,
➢ Lumbar puncture if meningitis or encephalitis is suspected at any age
➢ Strongly consider lumbar puncture in children younger than 12 months because the signs and
symptoms of bacterial meningitis may be minimal or absent in this age group
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➢ Blood work for evaluation of the febrile illness, not the seizure
➢ Electroencephalogram (EEG) not necessary for simple febrile seizure
➢ Neuroimaging is also not routinely needed for simple febrile seizure
Management
• Supportive
• Treatment of underlying febrile illness
Prognosis
• Approximately 1 in 3 patients will have recurrence after experiencing first febrile seizure
• Approximately 2–10% will likely be diagnosed with epilepsy after experiencing a febrile seizure
Neonatal Seizures
Background
• Incidence of neonatal seizures in term infants is 1–3.5 per 1000 births in the USA
• The incidence is much higher in preterm infants
Causes
• Hypoxic ischemic encephalopathy
• Intracranial hemorrhage (intraventricular, subdural, subarachnoid)
• Ischemic stroke
• Infections (meningitis)
• Hypoglycemia
• Hypo or hypernatremia
• Hypocalcemia
• Hypomagnesemia
• Related to underlying inborn error of metabolism
• Certain genetic disorders
Clinical presentation
• Often not obvious
• Subtle tonic or clonic movements of one limb
• Automatisms also possible (lip-smacking)
Diagnosis
• Laboratory evaluation to look for metabolic abnormalities, hypoglycemia, or infection
• EEG
• Neuroimaging to look for underlying structural abnormality
• Jitteriness can sometimes be associated with hypoglycemia
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Treatment
• Try to treat the underlying etiology such as electrolyte abnormality or hypoglycemia
• Phenobarbital
Prognosis
• The consequence of neonatal seizures is in part dependent on the underlying etiology, response to
treatment, and gestational age
• There is higher mortality rate
• Depending on etiology, there can also be increased risk of developing motor and cognitive delays
• “Fifth day fits” is a subset of benign familial neonatal convulsions with seizures occurring on the
5th or 6th day of life; self-limited
Infantile Spasms
Background
• Typical age of onset is between 4 and 7 months
• Typically involve rapid flexion of the trunk, neck, and extremities, followed by a tonic phase
• Often occur in clusters, and in between thespasms, the child may cry
• More common after an arousal, including after a nap
• West syndrome: Triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression
EEG – Hypsarrhythmia
• Triad of: High amplitude, disorganized back-ground, multifocal discharges
Treatment
• Adrenocorticotropic hormone (ACTH)
• Vigabatrin if the spasms are symptomatic in a patient with tuberous sclerosis complex
Prognosis
• If not treated early or effectively → increased risk of developmental delay and intellectual
disability
Childhood Absence Epilepsy
Background
• Typical onset between 4 and 10 years of age
• Staring and behavioral arrest
• Can have eye blinking or eye flutter
• Automatisms
• Usually will last a few seconds with rapid return to baseline
• Typically occur daily, multiple times per day
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• During brief episodes, there is memory lapseacademic decline
• Often can be provoked with 2–3 min of hyperventilation
EEG
• 3 Hz generalized spike wave discharges (Fig. 16.1)
Treatment
• Ethosuximide
Prognosis
• The majority will become seizure free during adolescence
Benign Epilepsy
With Centrotemporal Spikes (BECTS)
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Background
• Previously known as benign rolandic epilepsy (BRE)
• Simple focal motor seizures (mostly involving the face but can spread to arm and leg, and
can also secondarily generalize)
• Can also have sensory features (paresthesias) involving the corner of the mouth, cheek, or
tongue
• There can be increased salivation and speech arrest
• Majority of seizure events are nocturnal
• Patients typically have normal neurocognitive development
EEG
• Focal discharges in the centrotemporal (rolandic) region with activation during sleep over
a normal background
Treatment
• Low seizure frequency
• Because seizures are typically nocturnal and infrequent, there is no absolute indication to
treat
• Iftreatment is considered, first-line is carbamazepine
Prognosis
• May be associated with developmental delays
• Spontaneously remits in mid-adolescence
Juvenile Myoclonic Epilepsy

Background
• Often presents with generalized tonic–clonicSeizures
• Risk factors include sleep deprivation (from a sleepover), stress, and alcohol use
EEG
• Generalized “atypical” spike or polyspike-and-wave discharges at 4–6 Hz
• Photosensitivity is common
Treatment
• Valproic acid
• Risk of neural tube defects
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• May consider lamotrigine or levetiracetam
Prognosis
• Lifelong risk of seizures
Table 16.1 Type of seizure and treatment of choice

Seizure Type Treatment of Choice
Carbamazepine
Partial seizures Oxcarbazepine
Levetiracetam
Ethosuximide
Absence Valproic acid
Lamotrigine
Valproic acid
Generalized tonic–clonic Levetiracetam
Lamotrigine
Adrenocorticotropic hormone (ACTH)
Infantile spasms
Vigabatrin (tuberous sclerosis)
Night terrors
• Non-rapid eye movement disorder
• Most commonly occur in the first one-third of the night
• Clinically can see facial flushing and agitation
• Night terrors can occur throughout first decade of life and usually will spontaneously remit
Movement disorders
• The movements associated with various movement disorders can be perceived as epileptic
in nature
• Examples include tic disorder, sleep myoclonus, and paroxysmal dyskinesia
HEADACHE
Epidemiology
• Prevalence of headache in children up to the age of 20 years is approximately 58%
• Female:male ratio of 1.5:1 in this same age group
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• Migraines in this population are seen 7.7– 7.9% in females and 6% in males
• In young children, boys have more migraines, but this reverses at puberty
• Younger children often have more atypical symptoms
Types of headaches
1. Migraine
2. Tension
3. Chronic nonprogressive
4. Chronic progressive
• Acute intermittent headache •\ Duration of pain can be 30–60 min but up to 72 h
• Unilateral (frontal/temporal) location (may be bilateral in children)
• Typically has a pulsating quality
• Nausea and/or vomiting
• Photophobia and/or phonophobia/Vertigo
• May have associated aura
• Child will typically seek a quiet and dark place to rest
• Sleep can often relieve the pain
• Periodic syndromes in children such as cyclic vomiting (recurrent bouts of vomiting) or
benign paroxysmal vertigo (recurrent episodes of dizziness) often become typical
migraines as child gets older
Diagnosis of Primary Headache Syndromes
• Clinical history
➢ Ask about family history of headaches
➢ Impact on school (days missed, drop in grades)
➢ Ask about anxiety, depression, other psychiatric comorbidities
➢ Ask about extracurricular activities
• Imaging
➢ CT indicated in acute cases such as high suspicion for subarachnoid hemorrhage
➢ MRI indicated chronic progressive headache,even in absence of focal neurologic
symptoms
• Typically no indication for EEG or skull films
• No routine blood work
Treatment of Primary Headache Syndromes
General
• Lifestyle modifications (regular meals, consistent sleep, exercise, hydration)
• Methods to cope with stress
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• Treat pain early

• Set realistic goals
Acute treatment
• Acetaminophen
• Ibuprofen, naproxen, and other NSAIDs
• Triptans (only rizatriptan and almotriptan are approved by the US Food and Drug
Administration for pediatrics)
• Consider promotility agents, as gastroparesis can delay medication absorption
(prochlorperazine, metoclopramide)
Chronic treatment (preventative therapy)

• Lifestyle change
• Exercise, regular sleep pattern, good balanced diet, hydration
• Avoid overuse of analgesic medications; may cause analgesic headache
• Try to use medications that will address comorbidities•\ Amitriptyline for patients with sleep
problems
• Cyproheptadine for patients with allergies,poor appetite, or thin
• Topiramate for obese patients
• Avoid propranolol in patients with asthma
Alternative therapies
• Behavioral therapies (biofeedback)
MALFORMATIONS OF THE BRAIN

Arnold–Chiari Malformation Type I
Definition
• Most common type of Chiari malformation. Herniation of the cerebellar tonsils through
the foramen magnum into cervical canal can be associated with syringomyelia but is not
associated with hydrocephalus.
Difference between Chiari malformation type I and type II
Chiari malformation type I Chiari malformation type II
Herniation of the cerebellar tonsils > 0.5 cm Herniation of cerebellar tonsils and lower medulla,
below theforamen magnum into the cervical pons, fourthventricle through the foramen magnum
canal into the upper cervicalcanal
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Less common and more severeCan involve the

Most common and least severe
cranial nerve
Can be associated with syringomyelia Usually associated with hydrocephalus, and
(Spine MRI isdiagnostic) myelomeningocele
Asymptomatic during childhood

Infants
During adolescence Dysphagia
Neck pain Apnea
Recurrent headaches Weak cry
Sleep apnea Older children
Bowel/bladder dysfunctionLower
Gait abnormalities
extremities spasticity
Observation Observation
Serial MRI follow-upSurgical decompression as
Surgical decompression as necessary
necessary
Symptoms
• Generally asymptomatic in early childhood. During adolescence or adult life can cause recur-rent
headaches, urinary frequency, neck pain, and progressive lower extremity spasticity
Treatment
• Asymptomatic patients can be monitored clinically and with MRI to evaluate progress as
needed. Symptomatic patients can undergo surgery as necessary
ArnoldChiari Malformation Type II
Definition
• Classicform of Chiari malformation. Cerebellar tonsillar and lower medullary her niation
through the foramen magnum into the upper cervical canal. Associated with progressive
hydrocephalus due to obstruction of outflow of CSF through the posterior fossa and
lumbosacral meningomyelocele
Symptoms
• Some can present in infancy with dysphagia, stridor, apnea, and weak cry. Can also present
later with gait abnormalities and incoordination
Treatment
• Clinical observation and serial MRIs to evaluate for any progression. Surgical
decompression as necessary
Dandy–Walker Malformation
Definition
• Cystic expansion of the fourth ventricle in the posterior fossa. Majority of cases have
hydrocephalus
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• Malformation is also often associated with agenesis of corpus callosum and agenesis or
hypoplasia of cerebellar vermis
Symptoms/diagnosis
• Wide range of neurodevelopmental outcomes. Can see rapid increase in head circumference
and prominent occiput due to hydrocephalus, cerebellar ataxia, delayed motor, and cognitive
development. Can also be associated with orofacial deformities and with congenital
abnormalities of the cerebrovascular, gastro-intestinal, and genitourinary systems
• MRI of the brain shows cystic structure in posterior fossa
Treatment
• VP shunt for hydrocephalus, treatment of neurologic sequelae
Hydrocephalus
Definition
• Disturbance of formation, flow, or absorption of CSF that leads to an increase in volume
within the cerebral ventricles and an elevation in ICP
Ventricular system (CSF flow)
• Unilateral flow
• CSF is mostly made in choroid plexus within ventricles (total volume produced is about
400–500 mL/day)
• CSF flows from lateral ventricles → foramina of Monro → third ventricle → cerebral aque-
duct → fourth ventricle → foramina of Luschka and foramen of Magendie → cisterna
magna → reabsorbed in the arachnoid granulations
Obstructive (noncommunicating) hydrocephalus

• CSF is obstructed within the ventricular system or in its outlets to arachnoid granulations
• Most common etiology is congenital aque-ductal stenosis
• Other causes include posterior fossa tumors, Arnold Chiari type II malformations, and
Dandy Walker syndrome
Nonobstructive (communicating) hydrocephalus
• Flow within ventricular system is intact, but cisterns and arachnoid villi cannot absorbCSF
• Typically related to accumulation of blood or infectious material
• Causes subarachnoid hemorrhage, intraventricular hemorrhage and meningitis
Clinical features
• Signs and symptoms of increased ICP
• Altered mental status, irritability
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• In infants: Full fontanel, rapid head growth, poor feeding, downward deviation of eyes
(sunset sign)
• Vomiting
• Headache
• Increased tone or reflexes
Diagnosis
• Consider head ultrasound in infants (through the anterior fontanel)
• Head CT or MRI
Treatment
• If possible, treat underlying etiology
• Medical treatment with acetazolamide
• Definitive treatment is surgical with placement of ventriculoperitoneal (VP) shunt
• Shunt complications
− Infection (persistent fever, headache)
o Antibiotic and shunt replacement
− Shunt malfunction (headache without fever)
o Consult neurosurgery for shunt adjustment
− Epilepsy: Occurs in 1/3 patients 10 years post shunt
o Subacute/chronic shunt dysfunction can occasionally present with worsening
seizures or status epilepticus
VASCULAR ANOMALIES
Stroke
Background
• Incidence is about 2–3 per 100,000 children annually
• About 1 infant in 4,000 live births
Causes
• Ischemic stroke includes congenital heart disease, coagulation disorders, infections
(meningitis), sickle cell disease, vasculopathies, and arterial dissection
• Hemorrhagic stroke includes congenital vascular anomalies (arteriovenous
malformations), brain tumors, head trauma, and thrombocytopenia
• Acute onset of hemiparesis
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• Seizures/Severe headache with focal neurologic symptoms most commonly present in

hemorrhagic stroke
• Additional signs and symptoms include irritability, lethargy, and behavioral changes
Diagnosis
• Neuroimaging
− CT is good in cases of hemorrhagic stroke (acute blood)
− MRI/magnetic resonance angiography, including diffusion weighted imaging is more
sensitive for ischemic stroke
− Conventional angiography is the gold standard if noninvasive evaluation is inconclusive
− Consider Echo and hypercoagulable evaluation
Treatment
• Treat the underlying etiology
• Aspirin is the main antiplatelet agent used in children
• Neurosurgical intervention may be needed in cases of hemorrhagic stroke
Prognosis
• Mortality rates are higher with hemorrhagic stroke compared to ischemic stroke, but long-
term comorbidities are less common with hemorrhagic stroke
• There is low recurrence rate after neonatal stroke
SPINAL CORD DISEASES
Tethered Cord
• Occurs when the distal part of spinal cord is thickened and is anchored in the spinal canal
• As the child grows, the distal part of the spinal cord is stretched and can become ischemic
Clinical features
• Cutaneous lesion in lower back (tuft of hair, dimple, hemangioma, lipoma)
• Lower extremity weakness, spasticity, or numbness
• Scoliosis
• Low back pain
Diagnosis
• Lumbosacral MRI
Treatment
• Transection of filum terminale
Prognosis
• Neurologic deficits are often irreversible
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Spina Bifida Occulta

• Mildest form of spina bifida
• Spinal filmwill show incomplete closure of some vertebrae
• May see midline sacral tuft of hair or dimple on exam
• No neurological symptoms
• Often no need for intervention
Meningocele
• Protrusion of meninges from the back
• Does not contain nervous tissue
• Typicallywill not have neurological symptoms
• Treatment is surgical closure of the back
Myelomeningocele
• More severe form of spina bifida
• Broad-based defect in back with protruding sac containing meninges and spinal cord
• Neurological deficits are based on level of spinal cord involved
• Significant number of patientswill develop hydrocephalus over time (more common when
the lesion is in the thoracolumbar area)
• Treatment involves closure of the back as well as supportive care, including placement of
VP shunt if hydrocephalus develops
Transverse Myelitis
Definition
• Inflammationof spinal cord, typically involving ≤ 3 vertebral segments Includes both motor
and sensory abnormalities
Causes
• Postinfectious or postvaccination
• Viral myelitis
• Autoimmune vasculitis
• Spinal cord trauma
Clinical features
• Acute/subacute onset
• Thoracic cord most often involved
• Weakness and often flaccid paralysis and are flexia initially, followed by spasticity and
hyperreflexia
• Paresthesias common in the legs/Sensory level
• Bowel and bladder dysfunction
• Backpain around the involved spinal segments
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Diagnosis
• Spinal MRI (assess the extent of lesion)
• If lumbar puncture performed, CSF typically shows lymphocytic pleocytosis; protein may
be elevated or normal; glucose is typically normal
Treatment
• Corticosteroids
• Supportive therapy
Spinal Epidural Abscess
• Causes: Bacteremia, direct extension from local infection
• Clinical presentation typically like transverse myelitis
• Most common organism: Staphylococcus aureus
• MRI with contrast is the study of choice
• Lumbar puncture is usually contraindicated
• If no neurologic deficits, can consider treatment with antibiotics only
• Surgical intervention and appropriate antibiotic therapy mainstay of treatment
Spinal Cord Trauma

• Causes: Birth injury; falls; motor vehicle accident; sport injury, including diving/tram-
poline; gunshot/stab wounds; infection (abscess)
• Complete spinal cord injury
✓ Spinal shock: Complete loss of spinal cord function
✓ Truncal + extremity muscles below level of lesion flaccid, deep tendon reflexes are
depressed or absent, Babinski reflex absent, anesthesia to all modalities, autonomic
dysfunction (hypotension + bradycardia)
✓ If injury more permanent➔ Hyperreflexia, muscle spasticity, permanent motor and
sensory deficits, and autonomic dysfunc-tion can persist for months
✓ Recovery rare and prognosis poor
Atlantoaxial Instability
• Excessive movement between C1 (atlas) and C2 (axis)
• Ligaments mainly provide stability to the upper cervical spine
• Causes: Down syndrome, osteogenesis imperfecta, neurofibromatosis, skeletal dysplasias,
mucopolysaccharidoses, trauma, tumors
• Neurologic symptoms occur when there is impingement to the spinal cord
• Plain radiography main diagnostic tool, preferably in an awake patient sitting or standing
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• CT and MRI usually reserved for a more detailed evaluation of congenital anomalies or
neurological impairment
• Posterior C1–C2 fusion if there are neurological impairments
DISORDERS OF NEUROMUSCULAR JUNCTION (TABLE 16.7)

Myasthenia Gravis
• Maternal anti-acetylcholine receptor (AChR) antibody transferred transplacentally
• Ptosis, feeble cry, poor suck during the first few days
• Usually resolves within 3–5 weeks
Table 16.7 Difference between upper and lower motor neuron lesions
Upper motor neuron lesions (UMNL) Lower motor neuron lesions (LMNL)
Interruption of neural pathways in the brain and Interruption of neural pathways outside the brain
spinal cord before anterior horn cells and spinal cord
Weakness in all muscle group Weakness more distal
(Less muscle wasting) (More muscle wasting)
Spasticity Hypotonia (flaccid)
Reflexes are increased Reflexes are reduced

Babinski reflex; extensor plantar response
Fasciculations
Upgoing toe (Normal in < 3 years)
Study of choice: Study of choice:
CT scan (brain) Nerve conduction studies
MRI (brain/spine) ElectromyogramCreatine kinase
Botulism
• Toxinfrom Clostridium botulinum (anaerobe)
• Two most common sources of ingestion of spores are from honey and soil
• Gradual onset of hypotonia, constipation, poor suck/swallow, feeble cry, sluggish pupils
Diagnosis
• Isolation of toxin from stool. EMG shows fibrillation potentials and decremental response
on repetitive nerve stimulation
Treatment
• Botulism immune globulin (BIG), supportive care. Many patients go on to respiratory
paralysis and intubation
PRIMARY MUSCULAR DISEASES (MYOPATHIES)
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Duchenne Muscular Dystrophy

Genetics
• X-linked recessive disorder (affects only males) resulting in an absence of dystrophin. 30%
of cases are spontaneous mutations. Incidence is 1 in 3500 male births
Symptoms/exam
• Normal newborn, develops waddling, poor head control, difficulty standing or climbing
(Gowers’ sign), hypertrophic calves (pseudo-hypertrophy), generally unable to walk after
12 years of age, death in 75% by age of 20 dilated cardiomyopathy
Diagnosis
• Creatine phosphokinase (CPK) elevated even prior to muscle weakness. Muscle biopsy is
diagnostic. Genetic testing for dystrophin gene. EMG shows characteristic myopathic
features. Echo, EKG, and CXR to evaluate cardiac function
Treatment
• Supportivecare and physical therapy. Corticosteroids are sometimes recommended to delay
wheelchair use
Becker Muscular Dystrophy
Genetics
• Defect is at same locus as Duchenne muscular dystrophy, but patients have later onset and
milder course
Symptoms/exam
• Symptoms onset later than Duchenne patients, but also present with pseudohypertrophy of
calves and wasting of thigh muscles. Patients ambulatory until late adolescence and early
adulthood. Becker patients can also present with cardiomyopathy
Diagnosis
• CPK elevated, muscle biopsy is diagnostic. Genetic testing for dystrophin gene. Echo,
EKG, and CXR to evaluate cardiac function
Treatment
• Supportive care, physical therapy
Congenital Myotonic Dystrophy
Genetics
• Autosomaldominant. CTG trinucleotide repeat expansion of chromosome 19. Inheritance
is generally from mother, and symptoms become more severe with each successive
generation (genetic anticipation)
Symptoms/exam
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• Hypotonia in the newborn, “floppy infant,” hollowing of temporal bones, tenting of upper
lip, feeding issues, respiratory distress due to intercostals and diaphragmatic weakness,
arthrogryposis; some patients have cataracts
Diagnosis
• DNA testing for CTG repeats, CPK not useful
Treatment
• Supportive care, physical therapy
NEUROPATHIES
Acute Inflammatory Demyelinating Polyneuropathy (Guillain–Barré
Syndrome, GBS)
• Postinfectious polyneuropathy that results in paresthesias and ascending symmetric periph-
eral neuropathy. Early calf pain is also com-mon. Occurs in healthy individuals, days to
weeks after an antecedent illness
• Miller Fisher variant presents with facial weakness, ophthalmoplegia, ataxia, and areflexia
Causes
• Strongest association with bacteria Campylobacter jejuni, also Mycoplasma pneumonia
• Autoimmune conditions, surgery, and vaccinations
• Weakness
− Refusal to walk, walking on a wide base, or difficulty with running or climbing stairs
− Usually begins distally in the legs and ascends
• Symmetric diminished or absent reflexes early in the course
• Cranial nerve abnormalities are frequent; facial nerve is most commonly affected cranial
nerve, and the weakness is often bilateral
• Paresthesias/Autonomic instability: Arrhythmia, orthostatic hypotension, hypertension,
bladder dysfunction
• Acute illness peaks in severity 2 weeks after onset; recovery may take weeks to months
Diagnosis
• Primarily on basis of clinical appearance. CSF shows elevated protein without an elevated
cell count (albuminocytologic dissociation);
• EMG can take weeks to show positive findings, and first abnormality is F wave;
• nerve conduction studies are slow with evidence of conduction block
Treatment
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• IVIG and plasmapheresis /Supportive care and hospitalization until patient is stabilized
and ICU care if there are symptoms of bulbar palsy, vital capacity is compromised, and/or
autonomic instability
Course and prognosis
• Prognosis for childhood GBS generally is excellent
• Full recovery within 6–12 months, majority of those who do not fully recover having only
mild disabilities
Spinal Muscular Atrophy (SMA)

• Autosomal recessive condition affecting the anterior horn cell. Characterized by three
different types ranging in severity: SMA type 1 (Werdnig Hoffmann), SMA type 2 (no
eponym), and SMA type 3 (Kugelberg Welander)
• Severe hypotonia; SMA type 1 presents prior to 6 months of age
• Frog leg position
• Difficulty feeding
• Tongue fasciculations, atrophy with progression of disease
• No sphincter loss, sensory loss, or cognitive loss
Diagnosis
• Gene mutation screening
Management
• Respiratory, nutritional, orthopedic support
• Gene therapy
DISORDERS OF MOVEMENT
Ataxia
• Definition: “…disturbance in the smooth performance of voluntary motor acts”
Differential diagnosis (broad spectrum)
• Infectious or postinfectious/Posterior fossa tumors
• Neuroblastoma(opsoclonus myoclonus syndrome)/Acute hemorrhage
• Toxic (i.e., alcohol, benzodiazepines)/Congenital (i.e., progressive hydrocepha-lus,Chiari
malformation, DandyWalker syndrome)/Genetic and/or degenerative (i.e., ataxia
telangiectasia, Friedreich ataxia, spinocerebellar ataxia)
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Acute Cerebellar Ataxia

• Relatively common in children, often in the second decade of life
• Most commonly associated with viral illness (varicella, Epstein–Barr virus)
Clinical features
• Rapid onset of ataxia, over hours to days
• Typically manifests as a gait disturbance
• Can also see ataxia (e.g., when reaching for objects) or dysarthria
• Mild CSF pleocytosis
• MRI may show enhancement
Prognosis
• Usually self-limiting/May take several weeks or months for complete resolution of
symptoms
Table 16.9 Difference between ataxia telangiectasia and Friedreich ataxia
Ataxia telangiectasia Friedreich ataxia

Autosomal recessive Autosomal recessive,trinucleotide repeat
1 per 40,000–100,000 1–2 per 100,000
Age of onset: 2–3 years Age of onset: Early adolescence
Elevated levels ofserum alpha-fetoprotein Normal levels of serumalpha-fetoprotein
Decreased serumimmunoglobulins
Normal immunoglobulins
(IgA,IgG, and IgE)
Oculocutaneoustelangiectasias No oculocutaneoustelangiectasias
Ataxia, nystagmus, diabetesmellitus,
Ataxia, ocular apraxia,pulmonary
kyphoscoliosis,weakness, loss of deep
infections
tendonreflexes
Negative Romberg sign,intact sensation Positive Romberg sign, poorsensation
No cardiomyopathy Cardiomyopathy
Normal arch foot High arched foot
Sydenham Chorea
Definition of chorea
• Frequent, brief, purposeless movement that are chaotic and unpredictable and that flow
from one body part to another
• Sydenham chorea is one of major Jones criteria for diagnosis of acute rheumatic fever
(ARF)
• Seen in 10–40% of children with ARF
• Most common between ages 5 and 15 years
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• Typically, the chorea begins several weeks to months after a group A beta-hemolytic
streptococcal infection
• Gradual progression with behavioral changes (impulsivity, aggression, OCD behaviors)
along with emotional lability
Diagnosis
• Clinical history and laboratory data; 25% of patients serologically negative
Treatment
• Studies have failed to confirm benefits of treatment with IVIG, corticosteroids, or plasma
exchange for the presumed autoimmune process
Dystonic Reactions
Definition of dystonia
• Involuntary, sustained, and often painful muscle contractions
• Caused by an imbalance between cholinergic and dopaminergic stimulation
• Types include: Oculogyric crisis, torticollis, opisthotonus, macroglossia
Causes
• Medication adverse effect (gastrointestinal medications, antipsychotics, antiepileptics,
sedatives)
• Can be caused by the medications that treat dystonia (see below)
• Head trauma
Treatment
• Anticholinergicagent, benzodiazepine, antihistamine
DEVELOPMENTAL DISORDERS
Cerebral Palsy
Definition
• A group of disorders that involve development of movement and posture leading to limitations
in activity, attributable to nonprogressive disturbances that occurred in developing fetus or
infant brain
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Etiology and risk factors for cerebral palsy

Perinatal brain injury Toxins
Hypoxia, ischemia In utero alcoholexposure
Asphyxia Methyl mercury
Neonatal stroke (ischemic perinatalinfarction,
Congenitalinfections(TORCH)
sinovenous thrombosis)
Prematurity Postnatal
Periventricular leukomalacia Neonatalmeningitis
Intraventricular hemorrhage Bilirubin toxicity(kernicterus)
Developmental abnormalities Other
Congenital brain malformations Male gender
Genetic disorders; metabolicdisorders Multiple gestation
Prenatal
Maternal chorioamnionitis
Intrauterine growth restriction
Prothrombotic abnormalities
Infertility
General manifestations of cerebral palsy
• Delayed motor milestones/Abnormal muscle tone/Hyperreflexia
• Hand preference before 1 year of age: A red flag for possible hemiplegia
• Growth disturbances: Especially failure to thrive
• Persistence of developmental reflexes/Presence of pathological reflexes
• Failure to develop maturational reflexes such as the parachute response
• Clinical manifestations may change with maturation
• No evidence of disease progression or developmental regression
Diagnosis of cerebral palsy
• History and physical examination (including thorough neurologic exam)
• Review pregnancy and delivery records
• Neuroimaging (preferably MRI)/Ophthalmologic and auditory evaluation
• Speech and language evaluate/EEG if concern for seizures
Management/complications of cerebral palsy
• Multidisciplinary approach
• Symptomatic treatment of seizures
• Symptomatic treatment of spasticity (oral baclofen, baclofen pump, botulinum toxin,
diazepam)
• Orthopedicmanagement of contractures, including surgery
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• Therapies to improve functional gains and slow the progression of contractures (physical
and occupational therapy)
• Learning and cognitive evaluations (speech therapy, individualized educational plan
[IEP] in school, special education)
• Growth and nutrition, including monitoring of swallowing and gastroesophageal reflux
• Respiratory monitoring for obstructive sleep apnea, risk of chronic aspiration,
development of restrictive lung disease secondary to scoliosis
• Management of sleep problems/Dental careincreased risk of malocclusion, dental caries,
and gingivitis
Types of cerebral palsy
1. Spastic
✓ Hemiplegia
✓ Diplegia
✓ Quadriplegia
2. Dyskinetic
✓ Choreoathetoid
✓ Dystonic
3. Hypotonic
4. Mixed
PULMONOLOGY/GENERAL SIGNS AND SYMPTOMS

Stridor / Wheezing
Background
1. Wheezing
✓ A musical, high-pitched whistling sound produced by airflow turbulence
✓ One of the most common symptoms in asthma (see amplified discussion)
2. Stridor
✓ High-pitched, harsh sound often audible without the stethoscope
✓ Results from rapid, turbulent airflow through a partially obstructed airway
3. Inspiratory versus expiratory
✓ Inspiratory Extrathoracic swelling or obstruction will lead to airway collapse on
inspiration. Example: Laryngomalacia
✓ Expiratory Intrathoracic swelling or obstruction will lead to airway collapse on
expiration. Example: Tracheomalacia
✓ Biphasic stridor Indicates fixed airflow obstruction, subglottic space obstruction
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RESPIRATORY CONDITIONS OF THE UPPER AIRWAY

Viral Croup(Laryngotracheobronchitis)
Background
• Most common cause is parainfluenza
• Causes subglottic narrowing
• Common between 3 months and 3 years
• Spasmodic croup similar without viral prodrome or other identifiable cause
• Cricoid cartilage has a complete ring and is the narrowest part of the airway in infants
• Barking or brassy cough
• URI with or without fever, which may be high (39–40 °C)
• Respiratory distress with retractions with hypoxia and hypercapnia in severe upper airway
obstruction
• Child may prefer to sit or be held upright
• Mildno stridor at rest
• Moderatestridor at rest but no agitation
• Severestridor and agitation
• Recurrent croup: Consider underlying anatomic airway abnormality, GER, or atopy
Diagnosis
• Clinical diagnosis
• In typical cases, CXR is not required
− CXR findings
− steeple sign on frontal view is a common finding but may be absent
Management
• Reassurance, observation, and hydration
• Dexamethasone 0.6 mg/kg beneficial in mild croup (may decrease need for hospitalization)
• Oxygen and racemic epinephrine in moderate or severe cases
• Racemic epinephrine should be used
• Low-density gas such as helium-oxygen (heliox) may be effective
• Admit for severe distress, hypoxia, and inability to feed/drink or if requiring 2 or more
racemic epinephrine treatments
• Endotracheal intubation recommended before patient is restless and cyanotic
Prognosis
• Course of viral croup in infants younger than 1 year of age is prolonged
• Symptoms often improve during the day with recurrence of symptoms in the early hours
of the morning
Epiglottitis
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Background
• Mostcommon pathogen Haemophilus influenza
• Rare in children due to H. influenzae vaccination, which leads to individual and herd
immunity
• More common in elderly and immunecompromised children than ingeneral population
• Rapid onset of illness (hours) with high fever, sore throat, drooling with difficulty
swallowing, and difficulty breathing
• Patient sitting up and leaning forward position to enhance airflow
• Stridor is not a prominent feature
• Radiograph lateral neck view: Thumb sign
Management
• Patients with acute epiglottitis should undergo endotracheal intubation to ensure an
adequate airway until inflammation subsides
• In severe cases, avoid unnecessary studies until airway is secured
• A skilled provider needs to remain with a patient with epiglottitis until the airway is
visualized and secured
ACUTE BRONCHIOLITIS
Background
• Viral bronchiolitis most common lower respiratory tract infection under 2 years of age
• Respiratory syncytial virus (RSV) is responsi-ble for more than 50% of acute bronchiolitis
• Other human metapneumovirus, parainfluenza, adenovirus, influenza, rhinovirus, and
mycoplasma
Risk Factors
• Maternal asthma/Maternal smoking
• Persistent rhinitis/Eczema at < 1 year of age
• Nasal congestion, rhinorrhea, and cough/Tachypnea
• Nasal flaring, grunting (in infants), and suprasternal, intercostal, and subcostal retractions
• Crackles, wheezing, and referred upper airway sounds upon auscultation
• Apnea may be more prominent then wheezing in infants < 2 months or preterm infants
Diagnosis
• Clinical symptoms lead to diagnosis;
• CXR warranted for infants in respiratory distress
• CXR commonly demonstrates hyperinflation, patchy atelectasis, and infiltrates
Management
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• Mainstay of treatment is supportive: Oxygen for hypoxia, hydration, nasal suctioning, and
positioning to elevate chest to 30°
• Infants with respiratory distress and desaturation or dehydration should be hospitalized
• The American Academy of Pediatrics does not recommend the use of bronchodilators or
systemic steroids in the routine treatment of bronchiolitis/ those with recurrent wheezing
may respond to bronchodilator therapy
• Corticosteroid inhaled or administered systemically, should not be routinely used in
• Ribavirin should not be used routinely in the treatment of bronchiolitis
Prevention
• Palivizumab (Synagis®) 15 mg/kg intramuscular (IM) for premature and high-risk infant
• Handwashing is best measure to prevent nosocomial infection
ASTHMA
Background
• Heterogeneousdisease characterized by chronic inflammation of the airways
• Wheezing observed in about 3% of infants before 3 years of age
Assessment
• There is no diagnostic test for asthma/Diagnosis is based on constellation of clinical
Exclusion of alternative diagnoses / Differential diagnosis for asthma
Red flags Possible diagnosis
Sudden onset of symptoms, witnessed

Foreign body aspiration
choking, localized wheezing
Coughing and choking when eating or
Dysphagia with aspiration
drinking
Sneezing, cough, nasal congestion Chronic upper airway cough syndrome
Poor growth and low BMI Cystic fibrosis, immunodeficiency

Chronic rhinorrhea, recurrent sinusitis,
Cystic fibrosis, primary ciliary dyskinesia
early-onset respiratory symptoms
Acute-onset dyspnea and/or stridor in teens Vocal cord dysfunction
Chronic wet productive cough, recurrent
Bronchiectasis
infections
Recurrent pneumonia Immunodeficiency, anatomical abnormality
Chronic wet cough, difficulties feeding, Vascular ring, tracheoesophageal fistula,
early onset, noisy breathing tracheomalacia
Heart murmur, poor weight gain, cyanosis
Congenital heart disease
with feedings
Prematurity, prolonged mechanical
Bronchopulmonary dysplasia
ventilation or supplemental oxygen
Initial controller therapy
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≥ 6 years Preferred initial therapy ≤ 5 years Initial therapy

Step 1
Infrequent viral wheezing
Intermittent asthma Step 1 SABA as needed
and no symptoms in
symptoms SABA as needed Consider intermittent
between episodes
ICS
Persistent symptoms Uncontrolled asthma
Step 2 Step 2
or high-risk factor wheezing (every 6–8
Low-dose ICS Daily low-dose ICS
for exacerbations weeks)
Asthma Step 2
Uncontrolled asthma on Step 3
symptoms/SABA Low-dose ICS
low-dose ICS Double low-dose ICS
use > 2X/week Consider LRTA
Step 4 Refer to
Step 3 specialist
Asthma symptoms
Medium-/high-dose ICS Uncontrolled asthma on Add LTRA
most days or waking
or if ≥ 12 years, low-dose double low dose Add intermittent/ICS
> 1X/ week
ICS/ LABA or increased ICS
frequency
Severe initial Step 4
presentation/(uncont Short OCS course
rolled asthma or AND/High-dose ICS or if
acute exacerbation) ≥ 12 years,
Step up Step 3: dd LTRA
to low-dose ICS
Uncontrolled asthma
Step 4: Can add
after
ipratropium (if > 12
initial therapy
years) Step 5: Refer to
specialist
PNEUMONIA
Background
• Lower respiratory tract infection with fever and respiratory symptoms with parenchymal
involvement on exam or by CXR findings
• Streptococcus pneumoniae most com-mon bacterial cause in children older than 1 week
• Viruses account for 14–35% of cases
• Complicated pneumonia with empyema and necrosis
• Community-associatedmethicillin-resistant Staphylococcus aureus
Most common causes of pneumonia by age group
• Neonates (0–3 m)
− Group B strep and Gram-negative bacteria
• Three weeks to 3 months
− Chlamydia trachomatis
o Major cause of pneumonia through childhood
− Bordetella pertussis
• Three months to 5 years
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− Most common etiologyviruses (RSV, parainfluenza, human metapneumovirus,

influenza, and rhinovirus)
− Streppneumoniamost treatable pathogen
− Mycoplasma pneumoniae
o Increased incidence in children approaching school age
• Five years to adolescence
− Most common cause
o Atypical organisms such as Mycoplasma and Chlamydophila pneumoniae
▪ Mycoplasmaleading cause of pneumonia schoolage children and young adults
Pneumonia via animal vectors
• Tularemia
− Rabbits and ticks
• Psittacosis
− Birds and parakeets
• Q fever
− Sheep, cows, and goats
• Nonspecific signs and
symptoms
• Cough and fever hallmark
symptoms
• Tachypnea is the most sensitive
and specific sign of
pneumonia/Most children with
cough and fever do not have
pneumonia
• Grunting may be a sign of
impending respiratory failure in
younger patients/infants
• Findings on exam may be
dullness to percussion, crackles,
decreased breath sounds, and
bronchial breaths
Diagnosis
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• Clinical diagnosis as above

• CBC, chemistry, or serology will not help in identifying etiology or aid in management
• Blood culture rarely helpful (only 10% of time organism is recovered)
• ESR and C-reactive protein (CRP) may be elevated but are not specific
• Tuberculin test if there are TB risk factors or TB is being considered
• CXR (Fig. 20.3)
✓ A CXR will not change clinical management for patients being treated as outpatient
✓ Afebrile children do not need a CXR
✓ CXR always lags behind clinical response. No need to obtain to confirm response to
antibiotics
✓ Obtain a CXR if:
o Complicated pneumonia
o Clinical deterioration
o Prolonged fever with no obvious source of infection
o Abdominal pain with normal appendix
Management
✓ High-dose amoxicillin (80–90 mg/kg/day) for uncomplicated cases being treated as
outpatient
✓ Augmentin or cefuroxime as outpatient,resistant azithromycin
➢ Indication for hospitalization: Suspected sep-sis, severe dehydration, toxic appearance,

hypoxemia (SpO2 < 90%), unresponsive to outpatient therapy, inability to drink
→ Intravenous fluids and O2, if needed, and antibiotics
→ Consider blood culture, CXR, chemistry profiles, and CBC
→ If inpatient: Cefuroxime, ceftriaxone, or cefotaxime are the antibiotics of choice
→ Adolescents: Fluoroquinolones (levofloxa-cin, gatifloxacin, moxifloxacin) may be used
for atypical pneumonia
→ If Staphylococcus is considered, add clindamycin or vancomycin
→ Uncomplicated pneumonia responds to antibiotics in 48–96 h
→ If no response or persistent pneumonia
o Repeat CXR
o Consider empyema, bacterial resistance, and nonbacterial pneumonia (FB, CF,
pulmonary sequestration, bronchiolitis obliterans, aspiration,
BRONCHIECTASIS
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Background
➢ Destruction of the airway wall (bronchi and bronchioles) leads to loss of integrity of the
muscular and elastic layers of the bronchial wall, results leading to dilated and collapsible
airway
➢ Productive cough is most common symptom /Dyspnea, rhinosinusitis, and hemoptysis are
less common
➢ Crackles, wheezing, and rhonchi are often heard; digital clubbing may be present
Evaluation
• CXR may reveal airway dilation, increased pulmonary markings with “tram tracking”
• High-resolution CT scan is gold standard and reveals detailed anatomy of bronchial tree
• There is a lack of airway tapering with luminal dilation, bronchial wall thickening,
honeycombing, and mucous plugging
Management and prognosis
• Determining the primary cause is of critical importance and is best done with direction
from pediatric pulmonologist
• Evaluation may include swallow study, sweat chloride testing, and bronchoscopy
• Mucus clearance should be enhanced with hypertonic saline nebulization, inhaled
mucolytics, and chest physiotherapy
• Chronic macrolide therapy has been found to be as beneficial as anti-inflammatory drugs
• Culture should be obtained/Aggressive treatment of Pseudomonas and Staphylococcal
infections is indicated, but antimicrobial therapy should be targeted to specific pathogens
• If bronchiectasis is localized and severe, lobectomy is a last resort in cases without systemic
etiology
CYSTIC FIBROSIS
Background
• Autosomal recessive inheritance pattern due to a mutation on long arm of chromosome 7
• Highest incidence in Caucasians, highly prevalent in Latinos and African Americans. Less
frequently seen in Asians and Native Americans
• CF transmembrane regulator (CFTR) dysfunction/absence leads to:
➢ Excessive reabsorption of sodium and deficient chloride secretion
➢ Passive movement of water is decreased, and airway secretions are dehydrated with
very low surface liquid layer
➢ Cilia become compressed, inhibiting ciliary clearance and cough clearance
➢ Bacteria thrive, and the immune function at the airway surface is also abnormal
➢ Repeated bacterial infection leads to air-way damage and bronchiectasis in the lung
• There are > 1700 mutations in the CFTR protein
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• The most prevalent mutation is F508 deletion (F508del),

• Pulmonary manifestations
➢ Cough most common and consistent symptom. Often productive but can also be dry
➢ Increased anteroposterior (AP) diameter of chest due to hyperinflation associated with
airway obstruction
➢ Hyperresonance, diffuse or localized crackles
➢ Nasal obstruction, nasal polyps, recurrent sinusitis/Clubbing
➢ In advanced disease: Cyanosis, exercise intolerance, shortness of breath, growth
failure, respiratory failure, and death
➢ Common bacterial pathogens include Staphylococcus aureus and Pseudomonas
aeruginosa
➢ Multidrug-resistant organisms are becoming more common (MRSA, Stenotrophomonas
maltophilia, and Burkholderia cepacia complex).
• Gastrointestinal manifestations
➢ Meconium ileus is seen in up to 20% of newborns with CF
➢ abdominal distention, emesis, and failure to pass meconium in first 24–48 h
➢ Abdominal radiograph (KUB) shows air fluid level with ground glass-appearing
➢ May need to consider surgery if medical management fails
o Pancreatic-insufficient (
o Frequent, loose, foul smelling, and greasy stools, flatus, and poor weight gain
o PI also associated with fat-soluble vitamins (ADEK) deficiency/night blindness,
• Genitourinary manifestations
− Pubertal development is often delayed, particularly if nutrition is poor
Complications
• Distalintestinal obstruction syndrome (DIOS)
• Rectal prolapse
• Nasal polyps
• CF-related liver disease
• CF-related diabetes
Diagnosis
• Newborn screening:
• Sweat chloride increasd
• DNA testing can confirm and, when sequenc-ing is sent, will identify > 95%
• Pancreatic function testing
Management per CF Foundation Guidelines
• Centers of care: Care is managed in a network of multidisciplinary centers.
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• Visits: Infants seen monthly for follow-up until age 1 and then quarterly
Primary goals of management
• Maintain lung function as close to normal as possible.
• Mainstay therapies include hydration of air-way surface layer with hypertonic saline,
• Prevent infections by limiting exposure to other CF
• Ensure adequate nutrition through high-calorie diet,
Managing complications
Standard therapies for treatment in CF
• Pancreatic enzyme replacement orally
• Multivitamins(particularly fat-soluble vitamins)/Bronchodilators
• Hydrating agents (7% hypertonic saline)/Mucolytics (dornase alfa)
• Antibiotics (inhaled, oral, or IV)
• ACT/chest physiotherapy (CPT)
• CFTR modulator drugs to improve ion transport
• Lung transplant indicated for severe and end-stage lung disease
• Median survival is currently 37 years
EXTRAPULMONARY RESPIRATORY CONDITIONS
Pleural Effusion
Background
• 10 mL fluid in the thoracic cavity
• Dueto excessive filtration or defective absorption
• Normal fluid balance
− 0.1–0.2 mL/kg of sterile colorless fluid
− Ninety percent filters from arterial capillaries, reabsorbed at venous capillaries
− About 10% returned via lymphatic
− Normal pleural fluid (0.3 mL/kg)
• Etiologies
− Pneumonia most common
− Neonatal period: Chylous effusion
− Others: Malignancy, renal disease, trauma, congestive heart failure, and systemic
• Suspecting any child with worsening pneumonia
• Respiratory distress, tachypnea, cough, chest pain with pleural inflammation
• Decreased to absent breath sounds,
• Dullness to percussion/Midline shift
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Diagnosis and management

• Transudate: Clear or straw colored; low pro-tein and lactate dehydrogenase (LDH)
• Exudate: Straw colored or cloudy
• .Ultrasound helpful to evaluate for localities
• CT scan for complicated effusions/empyema
Treatment
• Thoracentesis/Oxygen for hypoxemia
• Consultation with experts as needed
REF;
1. Nelson pediatrics
2. Osama naga
3. Pediatrics, Physical Medicine
and Rehabilitation by Michael
A. Alexander,
80

Pediatrics Physyical Thrapy Forfinal Years DPT-1

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1 | Page

S.# Topics Page #

8 General Pediatrics 20– 29

HISTORY TAKING IN PEDIATRICS

Problem list/chief complains/should be recorded in chronological order i.e longest duration

History of presenting complaint/HOPI

Expand and clarify;

Past Medical History

✓ Cry after birth or not

✓ NICU Admissions (cause and duration).

✓ Breast fed or Formula?

✓ Physical growth: Height, weight, and head circumference.

Alertness and movements.

✓ Low set ears.

✓ Microphthalmia: in Congenital rubella.

✓ Bowel sound and bruit.

✓ Sex and ambiguity.

✓ Spina bifida: Hair tuft, dimples, hemangioma, sinus.

✓ Ortolani’sTrying to locateTest:thehip with abductionlifting the hip

Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder

• (WHO)recommends diagnosis of poliomyelitis confirmed by isolation and identification

TALIPES EQUINOVARUS (CLUBFOOT)

1. Clubfoot or congenital talipesequinovarus (CTEV)term used to describe deformity

13. Diagnosis :By Xray

7. Radiographs Imaging: CTof cervical spine

1. Congenital muscular torticollis: Aggressive physical therapy for stretching sternocleido

Growth curve reading:

 Positional or supine sleeping is most common cause of plagiocephaly

 Brings hands together in the midline and to

 Begins to mask emotions for social etiquette

 Follows 3-steps commands and instructions

16 months 18 months 2 years 3 years

4 years 4-1/2 years 5 years 6 years

Age Language and social red flags

Age Motor red flags

Newborn Hypotonia and feeding difficulty

18 months Unable to walk

4 years Unable to jump in place

• Limping is a common complaint in pediatrics, a condition that may be due to pain,

Diagnosis (transient synovitis of the hip joint)

Septic arthritis Transient synovitis

Fever Usually present Normal or mild elevation

ESR, CRP, WBC Usually elevated Normal or mild elevation

Inability to walk Common Rare

Blood culture May be positive Negative

Arthritis due to rheumatic

Urgent surgical drainage/ Treatment of acute rheumatic Anti-inflammatory (see Chap.

• Common in adolescents and uncommon in young children

• Infections: Diskitis, osteomyelitis

• Depending on history and physical examination

• Treatment of underlying cause

• Spondylolysis is a bone defect in pars interarticularis of the vertebra (Fig. 13.4)

• The condition is present in about 7% of ado-lescents and in up to 20% of participants in

• The condition is asymptomatic in the majority of cases

• Low back pain with extension activities

• The condition is usually asymptomatic

Developmental Dysplasia of the Hip (DDH)

Fig. 13.8 Scheuermann

(a) A 14-year-old boy

(b) Lateral thoracic

DDH LCPD SCFE

Toddler < 3 years Painless limp (infants

Positive Ortolani and Barlow