Quick Crams Flashcards
NNT
= 1/ARR (absolute risk reduction - ALSO KNOWN AS RISK DIFFERENCE or attributable risk)
ARR = (control event rate) - (experimental event rate)
Weight
= (age +4) x2
Bioavailability
= AUC(oral) / AUC(IV)
Volume of distribution
= Dose(IV) / plasma concentration
Mid parental height
= (M+F +/- 13) / 2
Range +/- 8cm
Height velocity
= difference b/w 2 heights divided by time x12 (measured per year)
Likelihood ratios
Positive = sens/(100%-spec) Negative = (100-sens)/spec
Mixed venous sats
= (3xSVC)+(1xIVC) / 4
Qp:Qs
= (Ao sats - MV sats) / (PV sat - PA sat)
Pressure conversion mmHg and kPa
7.5
I.e. 100 kPa = 750mmHg
Osmolarity
= 2xNa + glucose + urea
Urine anion gap
= Na + K - Cl
Gap influenced by ammonium = positively charge. Therefore if gap negative, suggests high urinary ammonium, suggests kidneys can secrete H+ (i.e. not distal/type1 RTA).
Insensible losses
= 400mL/m^2/day
eGFR
= 36.5 x height(cm) / creatinine
CYP450 inducers
CRAP GPS
Carbamazepine (can autoinduce), rifampicin, alcohol, phenytoin, griseofulcin, phenobarbitone, sulfonyluea
CYP450 inhibitors
SICKFACES.COM
Sodium valproate, isoniazid, cimetidine, ketoconazole, fluconazole, alcohol, chlorampheicol, erythromycin, sulfonamide, ciprofloxacin, omeprazole, metronidazole
ABCB4
PFIC3 - MDR3 deficiency
EPCAM
Tufting enteropathy
Lynch syndrome
JAG1
Alagille’s
Also NOTCH2 but less common
MYO5B
Microvillus inclusion disease
NOD2
IBD/Crohn’s
SERPINA1
A1AT
ATP7B
Wilson’s disease
HRAS
Costello syndrome
APC
Familial adenomatous polyposis
STK11
Peutz Jeghers syndrome
RET
Hirschprungs
UGTP81
Gilberts
SBDS
Shwachmann Diamond syndrome
UGTA1A
Crigler Najjar
FOXP3
IPEX
SCL5A1
Glucose galactose malabsorption
ALDOB
Hereditary fructose intolerance
MECP2
Rett syndrome
FBN1
Marfan syndrome
Fibrillin 1
COL2A1
Stickler syndrome
NSD1
Sotos syndrome
SCN1A
Dravet syndrome
Genetic epilepsy with febrile seizures plus
KCNQ2 and 3
Benign familial neonatal convulsions
CYP21A and B
21 hydroxylase deficiency -> CAH
SHOX
Short stature homeobox
On X and Y chromosomes
Relevant for height in Turner, Klinefelter, etc
SPRED1
Legius syndrome
Causes pancreatic insufficiency
CF
Shwachmann Diamond
Pearson
Johanson-Blizzard
Hyperammonaemia acute treatment
Benzoate
Radial ray syndromes
Cornelia de Lange Fanconi anaemia Holt Oram T18 (Edward) VACTERYL Others
Jervell LangeNeilsen syndrome
AR Long QT with congenital SNHL/deafness
Anticholinergic antidote
Physostigmine
Supportive
Cholinergic antidote
Atropine
Sympathomimetic/amphetamine antidote
Supportive
Adrenergic blocker but avoid BB
Benzos
Dantrolene
NMS antidote
Bromocriptine
Amantadine
Dantrolene
Serotonin syndrome antidote
Cyproheptadine
Olanzapine
Benzos
Benzos antidote
Flumazenil
Iron antidote
Desferrioxamine
Isoniazide antidote
Pyridoxine /B6
Malignant hyperthermia antidote
Dantrolene
Methaemoglobinaemia antidote
Methylene blue
Ascorbic acid
Opioid antidote
Naloxone
Paracetamol antidote
N acetyl cysteine
Sulphonylurea antidote
Octreotide
TCA antidote
Sodium bicarbonate
Warfarin antidote
Vitamin K
FFP
Prothrombinex
CCB antidote
Calcium
High dose insulin therapy
Dystonic reaction antidote
Benztropine
Diphenhydramine
Beta blocker antidote
Adrenaline
High dose insulin therapy
Calcium
Ethylene glycol antidote
Ethanol
Bupivacaine / local anaesthetic antidote
Intralipid
Hypertensive crisis antidote
Nitroprusside
SOS/VOD treatmetn
Defibrotide
Components cryoprecipitate
VWF, F8, fibronigen
Invasive pneumococcal infection <2yo/neonates
Consider toll like receptor defect
Recurrent Neisseria
Complement defect, MAC
Recurrent sinopulmonary infections
B cell defect or complement defect
Inability of B cells to differentiate into plasma cells capable of secreting all immunoglobulin types
Characteristic feature of CVID
Male neonate with encephalopathy and respiratory alkalosis
UCD/OTC
Normal distribution standard deviations
1 = 68% of population 2 = 95% 3 = 99.7%
Penicillin MOA
Block ability to cross link peptidoglycan polymers, inhibit cell wall synthesis
Vancomycin MOA
Bind terminal D-alanyl-D-alanine residues during cell wall synthesis
Ciprofloxacin MOA
Fluoroquinolone
Inhibits DNA gyrase
Resistance via efflux pump, proteins that bind and protect DNA gyrase, reduced affinity to quinolones
Aminoglycoside MOA
Bind 30S subunit
Prevent 50S subunit binding, therefore no protein synthesis
Macrolide MOA
Reversible binding 50S subunit
Prevent joining/binding amino acids together
Tetracycline MOA
Reversible binding 30S subunit
Prevent tRNA alignment
TMP/SMX MOA
Block folinic acid synthesis
Nitrofurantoin MOA
Damages bacterial DNA
DIOS treatment
Oral gastrografin
Others
Myopia, risk of retinal detachment, SNHL, MVP, joint hypermobility
Stickler syndrome
COL2A1
Abnormal production/assembly collage type 2
Unibrow, arched eyebrows, long eyelashes, hirsuit, ulnar ray defects
Cornelia de Lange
4-10yo with overgrowth and mild ID
Sotos syndrome
Homocysteinuria as well, but have ectopia lentis (down), stiff joints
Reactive arthritis, urethritis/balanitis/cystitis, conjunctivitis
Reiter syndrome
Recurrent aphthous ulcers, genital ulcers, uveitis
Behcet syndrome
AR periodic fever syndromes
FMF
Hyper IgD with period fevers
FMF
Recurrent short 1-3 day self limited episodes of fever, serositis, arthritis, rash (classically ankle/dorsum foot).
Variable frequency, weeks to years.
Colchicine
Amyloidosis is most serious complication
HIDS
<6mp
Fever 3-7 days, N/V/D, abdo pain (+/- LN, rash, arthritis, splenomegaly)
Improve with age
TRAPS
Tumour necrosis factor receptor associated periodic syndrome
Episodes of: fever, abdo pain, myalgia, rash, conjunctivitis, chest pain, arthralgia
Last >5 days, can last weeks
Steroids, not colchicine
PFAPA
Periodic fever, aphthous stomatitis, pharyngitis, adenitis.
Most common recurrent fever syndrome in children.
2-5yo
4-6 days, every 3-6 weeks like clockwork
Improve with age
Dramatic response to pred
Raised homocysteine
B12 or folate deficiency
B12 has raise methylmalonic acid as well
May be other causes
Pasturella
Type of bacteria
Animal bites, e.g. dogs (canis), cats (mulocida)
Fanconi syndrome causes
Acquired: drugs (aminoglycosides, cisplatin, ifosfamide, valproate, deferasinox), metals (lead, mercury, cadmium), vitamin D disorders
Congenital: Dent, cystinosis, tyrosinemia, galactosemia, Wilsons, hereditary fructose intolerance, mitochondrial myopathies
Central causes precocious puberty
Hypothalamic hamartoma (most common, a/w gelastic seizures), severe untreated hypothyroidism, other brain tumours, hydrocephalus, head trauma
CD40L
Hyper IgM syndrome Needed for class switching
WASP gene
Wiskott Aldrich syndrome protein
BTK
X-linked agammaglobulinaemia
Bruton tyrosine kinase
Sweaty sock odour
Isovaleric acidaemia
NST Victoria conditions
Condition Synonyms
3-hydroxy-3-methylglutaryl CoA
lyase HMG CoA lyase
3-methylglutaryl CoA hydratase 3-methylglutaconic aciduria type 1
Argininosuccinic aciduria Argininosuccinate lyase
Citrullinaemia type 1 Argininosuccinate synthetase
Beta ketothiolase T2 deficiency, 3-oxothiolase
Maple syrup urine disease MSUD, branched chain keto acid dehydrogenase
(mild/intermittent forms may not be detected)
Carnitine palmitoyl transferase 1 CPT1
Carnitine palmitoyl transferase 2 CPT2
Carnitine uptake defect CUD, systemic carnitine deficiency, carnitine transporter defect,
OCTN2 defect
2 Carnitine-acyl carnitine translocase CACT
Cobalamin disorders cblC, cblD, cblF disease
Cystic fibrosis CFTR
Homocystinuria Cystathionine betasynthase, CBS (vitamin responsive forms may not
be detected)
Hypothyroidism
Glutaric aciduria type 1 Glutaryl CoA dehydrogenase, GA1
Holocarboxylase synthase HCS, multiple carboxylase deficiency, MCD
Isovaleryl CoA dehydrogenase Isovaleric acidaemia, IVA
Medium-chain acyl CoA
dehydrogenase MCAD
Methylmalonic acidaemia Methylmalonyl CoA mutase, MMA, cblA, cblB disease
Mitochodrial trifunctional protein Long-chain hydroxy acyl carnitine dehydrogenase, LCHAD, MTP
Multiple acyl CoA dehydrogenase MADD, glutaric aciduria type 2, GA2, ETF deficiency
Phenylketonuria PKU, phenylalanine hydroxylase, including tetrahydrobiopterin defects
Propionic acidaemia Propionyl CoA carboxylase, PA, ketotic hyperglycinaemia
Tyrosinaemia 2 Tyrosine aminotransferase
Very long chain acyl CoA
dehydrogenase VLCAD
Cystinosis treatment
Cysteamine
Apert syndrome
Acrocephaly, facial underdevelopment, syndactyly, learning disability.
Acrocephaly = oxycephaly = high pointed head, sutures involved coronal sagittal and lambdoid.
More severe than Crouzon
Crouzon syndrome
Acrocephaly, scaphocephaly, or brachycephaly
Hypertelerosim, exophthalmos, increased ICP, learning disability.
Milder than Apert
Sacphocephaly
Elongated narrow skull
Sagittal suture
Brachycephaly
Short, broad skull
Both coronal sutures involved
Plagiocephaly
Unilateral flattening of skull
Single coronal suture, occasionally lambdoid
Trigonocephaly
Narrow, pointed forehead
Metopic suture involved
Kleeblattschädel
Also known as cloverleaf deformity, occurs when multiple sutures fuse prematurely. The coronal, lambdoid, and metopic sutures are most frequently affected. Bulging of the skull through the open sagittal and temporosquamosal sutures produces a trilobate skull. Kleeblattschädel is a rare anomaly, with fewer than 130 cases reported in the literature. Kleeblattschädel is the most severe form of cranial dysostoses. Nearly all affected patients have hydrocephalus and intellectual disability.
Craniosynostosis syndromes
Apert Crouzon Pfeiffer Carpenter SAETHRE-CHOTZEN SYNDROME
COL1A1 and 2
Osteogenesis imperfecta Treat with bisphosphonates Clinical features: Fractures with minimal or no trauma Dental abnormalities (dentogenesis imperfecta) Hearing loss Blue sclerae Osteoporosis Wormian bones (extra bones within cranial sutures)
Interrupted eyebrows
Kabuki syndrome
Shwachman Diamond Syndrome
GIT ***Pancreatic Insufficiency*** Hematological ***Bone Marrow Failure*** Malignancy: AML
Exocrine pancreatic dysfunction, cytopenias, and abnormalities of bone
USH2A
Usher syndrome
Genetic disorder affecting the cochlear and retina
Most common form of syndromic retinitis pigmentosa (2nd most common = Bardet-Biedl)
TCOF1
Treacher Collins
Types/causes of shock
Hypovolaemic (haemorrhage, gastroenteritis, intussusception, burns)
Distributive (septicaemia, anaphylaxis, spinal cord injury e.g. neurogenic)
Cardiogenic (arrhythmia, heart failure, valve disease)
Obstructive (congenital cardiac, tension pneumothorax, flail chest, tamponade, PE)
Dissociative (profound anaemia, carbon monoxide poisoning, methaemoglobinaemia)
Eikenella corrodens
Human bites (30%)
GN rod, normal mucosal commensal, hard to grow.
Penicillin, 3rd gen cephalosporin
Toxidromes - sympathomimetic
Amphetamines: MDMA, ecstasy, meth, ice
Cocaine, caffeine
Ritalin, LSD, theophylline
Everything up: tachycardic, tachypnoeic, hypertermic, dilated pupils (reactive), increased bowel sounds, diaphoresis
CF anticholingeric: no diaphoretic, reduced bowel sounds, urine retention
Toxidromes - anticholinergic
Examples: atropine, antihistamines, amitriptyline
Tachycardic, hyperthermic, dilated pupils
Reduced bowel sounds, normal RR, dry/no diaphoresis
Non reactive pupils
Picking behaviours
Toxidromes - serotonin syndrome
Examples: TCA, MAOI, SSRI, St Johns Wart, amphetamines, tramadol
CLONUS
Abrupt onset, rapidly resolving, myoclonus+tremor, hyperreflexia, mydriasis (dilated - d for dilated)
Toxidromes - neuroleptic malignant syndrome
Neuroleptics = antipsychotics, especially haloperidol
Life threatening idiosyncratic reaction due to dopamine blockade
Gradual onset usually 4-14 days, prolonged course
Fever, diaphoresis, unstable BP, altered conscious state, rigidity (diffuse)
Hyporeflexia
Normal pupils
Toxidromes - cholinergics
E.g. organic phosphorous compounds, nerve agents, nicotine poisoning, poisonous fungi
miosis, increased bowel sounds, diaphoresis
NORMAL HR, RR, temperature
Treat with atropine
Toxidromes - opioids
Bradycardia, bradypnoea, hypothermia, miosis, reduced bowel sounds, dry/no diaphoresis
Toxidromes - TCA
Sedation, coma, seizure, hypotension, tachycardia
BROAD QRS
Anticholinergic syndrome can occur too
Treat with sodium bicarbonate
Toxidromes - BB or CCB
Bradycardia, hypotension, reduced conscious state
Activated charcoal - indications, contraindications
(RCH guideline)
List of selected toxins where activated charcoal may be considered:
Amisulpride
Chloroquine, hydroxychloroquine or quinine
Calcium channel blockers, particularly verapamil and diltiazem
Carbamazepine
Colchicine
Beta Blockers
Flecainide
Methotrexate Paraquat/diquat
List of toxins where Charcoal is NOT helpful and contraindicated: Acid and Alkalis / corrosives Cyanide Ethanol/methanol/glycols Eucalyptus and Essential Oils Fluoride Hydrocarbons Metals - including Lithium, Iron compounds, potassium, lead Mineral acids - Boric acid
Adverse Effects:
Respiratory - aspiration, progressive respiratory failure; Death.
Beware oral use with drowsiness, or following the ingestion of substances which could cause rapidly reduced CNS depression or may cause seizures
Faecal discolouration
GI obstruction: by bezoar formation
Brugada syndrome
Due to a mutation in the cardiac sodium channel gene
RBBB V1-3 with STE and negative T wave
Tachyarrhythmia from fever - may mimic febrile convulsion
SCD a/w sleep/fever
Treat with ICD
VACTERL association
V – vertebral (60-80%, fused, misshapen, additional vertebra)
A – anal (90% - anal atresia)
C – cardiac (40-80%)
VSD most common
T – trachea-oesophageal fistula (50-80%)
R – renal (50%, most common = renal agenesis)
L – limb (50%, missing thumb or poorly developed forearms/hands)
Can occur with Fanconi anaemia
CHARGE syndrome
C – Coloboma
H – Heart anomalies
Most common: TOF*, ASD, AVSD, arch
A – choanal Atresia
R – Retardation of growth/development (ID)
G – genital anomalies (unilateral renal agenesis, renal hypoplasia, duplex kidney, UPJO or VUR)
E - Ear anomalies (asymmetric, small, cup-shaped, wide helix)
Caused by mutations of CHD7 on chromosome 8q12.
APECED
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Due to mutations in AIRE gene (important for synthesis of autoimmune regulator protein)
Classic triad:
Mucocutaneous candidiasis (presenting ft in 60%, all will have by age 40)
Hypoparathyroidism (30% initially, 80% eventually affected)
Hypocalcemia and hypomagnesemia can be difficult to control -> seizures
Adrenal failure (5% at presentation, 60% by age 15)
Albright hereditary osteodystrophy
Type 1a pseudohypoparathyroidism
Loss of function mutation of GNAS1 (PTH receptor)
Requires maternal transmission for expression
GNAS1 is also expressed in the thyroid, gonads and pituitary glands
Wolfram syndrome
AKA DIDMOAD
= diabetes insipidus, diabetes mellitus, optic atrophy and deafness
Evan’s syndrome
Auotimmune haemolytic anaemia (AIHA) + immune thrombocytopenia (ITP) and/or autoimmune neutropenia
Accounts for 15-30% of paediatric AIHA
Prognosis: more difficult to treat than AIHA alone and tends to have a chronic relapsing course
No specific underlying defect identified
Presentation:
Typically present with AIHA and then develop additional cytopenias months-years later
Or present with ITP and subsequently develop AIHA
Kawasaki criteria
Fever 5+ days, with 4/5: Conjunctivitis Rash Oral changes Extremity changes Lymphadenopathy
Jones criteria
For rheumatic fever
MAJOR Carditis Polyarthritis Chorea, Sydenhams Erythema marginatum Subcutaneous nodules
MINOR
Fever, polyarthralgia
Raised CRP/ESR
Prolonged PR on ECG
Supporting evidence of preceding strep infection w/i 45 days.
Cytokine release syndrome
Acute systemic inflammatory syndrome, fever and multiple organ dysfunction, d/t: CAR-T cell therapy, monoclonal antibodies, haploidentical allogenic transplant
Essentially an extreme infusion reaction. Usually within 2-3 days of inciting agent, but up to 2 weeks.
Fanconi anaemia
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, café-au-lait skin lesions, and malformations belonging to the VACTERL-H association.
DNA fragility syndrome
Pancytopenia
Congenital abnormalities at birth (25% will be normal)
Diamond Blackfan anaemia
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that classically presents in infancy. It is characterized by a progressive normochromic, usually macrocytic, anemia; congenital malformations (in approximately 50 percent of patients); and predisposition to cancer. Approximately 90 percent of patients with DBA are diagnosed within the first year of life, with 35 percent diagnosed within the first month.
Management
Steroids
Blood transfusions
Iron chelation therapy
DDX: TEC - Transient erythroblastopenia of childhood (TEC) is the most common cause of pure red blood cell aplasia in children and should be suspected in an otherwise healthy child with anemia and reticulocytopenia. TEC is a self-limited illness and typically presents between the ages of one and four years.
Warm vs cold AIHA
Warm-reactive AIHA – The most common form of primary AIHA in children, accounting for 60 to 90 percent of cases, involves warm-reactive autoantibodies, usually immunoglobulin G (IgG), that bind preferentially to the red cells at 37°C, leading to extravascular hemolysis mainly in the spleen, with resulting anemia, jaundice and, occasionally, splenomegaly. In some cases, IgG is present in sufficient quantity and proximity to fix complement, resulting in features of concomitant intravascular hemolysis.
Cold agglutinin disease – Cold agglutinin disease is relatively uncommon in children, amounting to approximately 10 percent of cases, most commonly occurring after Mycoplasma pneumoniae or Epstein-Barr virus infection. In this disorder, immunoglobulin M (IgM) autoantibodies bind erythrocyte I/i or, rarely, anti-PR antigens at colder temperatures and fix complement, which leads to anemia, either due to complement-mediated intravascular hemolysis or immune-mediated extravascular clearance, mainly by hepatic macrophages.
NF1 diagnostic criteria
2+ of:
6+ CALMs
Axillary/inguinal freckling
Optic glioma
2+ Lisch nodules (iris hamartomas)
2+ neurofibromas (or 1+ plexiform neurofibroma)
Distinctive osseous lesion (sphenoid dysplasia, tibial pseudoarthrosis)
First degree relative with NF1
TS criteria
MAJOR Hypomelanotic lesion (3+ being >5mm) 3+ angiofibromas 2+ ungual fibromas Shagreen patch Retinal hamartomas Coritcal dysplasias Subependymal nodules Subependymal giant cell astrocytoma Cardiac rhabdomyoma Lymphangioleiomyomatosis 2+ angiomyolipomas
Zellweger syndrome
Peroxisomal disorder AR - PEX1 or 6 most common Prognosis: 6 months Increased VLCFA High forehead, patent fontanelles Severe hypotonia and poor sucking and swallowing Poor subsequent neurological development A/W cerebral gyral abnormalities
PEX 1 or 6
Zellweger syndrome
Cherry-red spot
Tay-Sachs disease (sphingolipidosis - lysosomal storage disorder)
Sandhoff disease
GM1 gangliosidosis type 1
Niemann-Pick disease (A, C, D) (sphingolipidosis)
Sialidosis type 2
Farber disease
Mucolipidosis 1
Metabolites: VLCFA
Peroxisomal disorders e.g. Zellweger, adrenoleukodystrophy
Metabolites: 7-dehydrocholesterol
Smith-Lemli-Opitz syndrome
Metabolites: urine glycosaminoglycans and oligosaccharides
Mucopolysaccharidoses and mucolipidoses
Metabolites: urinary reducing substances
Galactosaemia
Metabolites: urinary AASA
Pyridoxine-dependent seizures
PKU
Phenylketonuria - most common IEM in the UK, carrier rate 1 in 50.
Untreated: DD in first year of life, learning disability, behavioural problems, decreased pigmentation, dry skin
Treated: Asymptomatic
Dx: raised phenylalanine, usually NST
Rx: Dietary restriction
Galactosaemia
Neonatal: jaundice, hepatomegaly, coagulopathy, oil-drop cataracts
Later: FTT, proximal tubulopathy, rickets
A/W E. coli sepsis
Dx: urinary reducing substances, Gal-1-PUT (unless received transfusion, then screen parents)
Rx: Lactose-galactose free diet
Tay Sachs
2-6 mo old – progressive weakness and loss of motor skills; hypotonia, hyperreflexia, cherry red macula
Macrocephaly
Seizures, blindness, spasticity
Death by 2-5 yo usually; secondary to pneumonia
Lysosomal storage disorder / sphingolipidosis
Hex A and B
Myotonic dystrophy
Neuromuscular condition
Severity relates to size of CTG triplet repeat
Congenital: unrecognised in mother, preceding polyhydramnios, born unexpectedly flat with facial weakness, hypotonia, respiratory failure, arthrogryposes, joint contractures
Older children/adults: facial weakness, progressive weakness, difficulty relaxing muscular contraction, cardiac involvement
Lesch Nyhan syndrome
Motor Disorder + Self Mutilation + Hyperuricemia
X-Linked Recessive
Features Motor: Dystonia, spasticity, choreoathetosis Self mutilating behaviour Gout Intellectual disability
47 XYY
Jacob’s syndrome
Mostly asymptomatic
Denys Drash
AD
Mutation WT1 transcription factor
Triad:
Ambiguous genitals, infant onset nephrotic syndrome, Wilms tumour
Gonadal dysgenesis, no uterus Diffuse mesangial sclerosis End stage renal failure 0-3 years Wilm’s tumor Mean age of onset = 18 months Gonadoblastoma in some
Pierson syndrome
Genetics
Mutation LAMB2 - B2 laminin
Clinical features Nephrotic syndrome (mesangial sclerosis) Hypoplasia ciliary/papillary muscles Fundal pigment abnormalities Strabismus Bilateral fixed narrow pupil Developmental Delay
Wolff-Chaikoff effect
Wolff-Chaikoff effect is an autoregulatory phenomenon, whereby a large amount of ingested iodine acutely inhibits thyroid hormone synthesis within the follicular cells, irrespective of the serum level of thyroid-stimulating hormone (TSH)
SIADH
Criteria: water retention with hypo-osmolality, normal/slightly raised blood volumes, less than maximally dilute urine
Causes:
- CNS disorder (infection, trauma, hypoxia)
- Respiratory illness
- Reduced LA filling
- Malignancy (lymphoma, bronchogenic carcinoma, idiopathic)
Causes obstructive spirometry
Asthma
CF
Bronchiectasis
Obliterative bronchiolitis (often restrictive as well)
Causes restrictive spirometry
Chest wall deformity
Neuromuscular disease (including GBS)
Fibrosing alveolitis
Interstitial pneumonitis
FEV1
Forced expiratory volume in first second
Gives a measure of large/medium airway obstruction
FEF25-75
Forced expiratory flow at 25 and 75% of the pulmonary volume (FEF25-75%) is defined as the mean forced expiratory flow during the middle half of the FVC.
Reflects small airway function
Total lung capacity
Total volume air in lungs at full inspiration
Vital capacity
The total volume of air that can be displaced from the lungs by maximal expiratory effort
Residual volume
The volume of air remaining in the lungs after maximum forceful expiration
Inspiratory capacity
The maximum volume of air that can be inspired after reaching the end of a normal, quiet expiration. It is the sum of the TIDAL VOLUME and the INSPIRATORY RESERVE VOLUME
Functional residual capacity
The volume remaining in the lungs after a normal, passive exhalation
Expiratory reserve volume + residual volume
Inspiratory reserve volume
It is the amount of air that can be forcibly inhaled after a normal tidal volume
Tidal volume
The amount of air that moves in or out of the lungs with each respiratory cycle
Expiratory reserve volume
The amount of extra air — above a normal breath — exhaled during a forceful breath out
Causes variable intrathoracic obstruction spirometry
This pattern, also known as dynamic or non-fixed intrathoracic obstruction, demonstrates truncation (flattening) of the envelope of the maximal expiratory curve, due to expiratory flow limitation.
This pattern may occur with tracheomalacia of the intrathoracic airway, bronchogenic cysts, or with tracheal lesions, which are often malignant.
Granulomatous polyangiitis
Causes variable extrathoracic obstruction
The flow-volume loop pattern associated with dynamic (non-fixed) extrathoracic obstruction (eg, vocal fold paralysis, extrathoracic tracheomalacia, polychondritis, mobile tumors) is characterized by truncation of the envelope of the maximal inspiratory curve.
Vocal cord paralysis
Subglottic stenosis
Goitre
Causes fixed upper airway obstruction
Firm tracheal lesions (eg, tracheal stenosis) can limit the modulating effect of transmural pressures on airway luminal diameter with the result that flow is limited during both inspiration and expiration, causing flattening of both limbs of the flow-volume loop.
Leigh disease
Subacute necrotising encephalopathy Hypotonia progressive deterioration in neurological abilities Present <2 years: Hypotonia Feeding difficulties Respiratory irregularities Weakness of extraocular movements Ataxia Irritability
Sturge Weber
Port wine stain, facial naevus, ipsilateral leptomeningeal angioma -> leads to ischaemia, focal seizures, hemiparesis, variable ID.
MRI, ophthal*** (glaucoma)
Von Hippel Lindau
Tumour suppressor gene
Clinical presentation:
Cerebellar haemangioblastomas and retinal angiomas
Raised ICP
Cystic lesions of kidneys, pancreas, liver and epididymis
Renal carcinoma (most common form of death)
Phaechromocytoma are frequently associated
IPEX
FOXP3
Due to decreased number or poor functioning regulatory T cells
Clinical features:
I – immune dysregulation (dermatitis)
P – polyendrocrinopathy (T1DM or thyroiditis)
E – enteropathy
X – X-linked
Consider in: male infant with T1DM + chronic intractable diarrhoea + FTT
Ataxia telangiectasia
DNA repair disorder
FEATURES
Ataxia is earliest manifestation
Abnormal eye movements
Telangiectasias, can have other skin lesions e.g. CALMS
Immune deficiency, affecting both cellular and humoral immunity, occurs in approximately 70 percent of patients
Progressive lymphopenia +/- antibody deficiency
Increased risk of leukaemia and lymphoma
May have elevated AFP levels (this can help diagnosis)
Pompe disease
Glycogen storage disorder 2. Really a lysosomal storage disorder. Accumulation of glycogen in lysosomes.
Infantile: Cardiomyopathy and hypotonia.
Hypotonia, weakness, hyporeflexia, macroglossia, giant QRS complexes.
Enzymology on fibroblasts diagnosis. Elevated CK.
Death w/i 12 months (improving with enzyme replacement therapy).
Joubert syndrome
Ciliopathy
FEATURES Hypotonia Hyperpnoea (disappears by 6mo) Oculomotor apraxia Ataxia Global developmental delay
May be associated with Retinal dystrophy Kidney disease Liver disease Polydactyly Hirschprung
MRI – molar tooth sign
Underdeveloped cerebellar vermis and malformed brain stem
Kallman syndrome
Olfactory and GnRH-releasing neurons do not function normally
Hypogonadotrophic hypogonadism
Hyposmia/anosmia
Niemann-Pick Disease
Sphingomyelinoses
Splenomegaly + neurological deficit + lipid storage
A+B different from C
Type A – 1:100 in Ashkenazi Jews - Infantile Hepatosplenomegaly Developmental delay -> death ILD (lung infiltrates) Macular cherry red spots
Type B – less severe, later onset - visceral Hepatosplenomegaly Thrombocytopaenia ILD Hyperlipidaemia No neuro involvement
Type C
Neonate – ascites, abnormal LFT, jaundice (conj bili earliest sign), pulmonary infiltrate, hypotonia
Hepatosplenomegaly
Neurological deterioration
Cherry-red spot
Vertical ophthalmoplegia
Adults – dementia, depression, BPAD, schizophrenia
ODD vs conduct disorder
ODD at least 6 months
Conduct disorder worse and at least 12 months
Neonatal atrial flutter
In the newborn with atrial flutter, direct current cardioversion is the usual primary therapy.
Adenosine challenge may reveal flutter waves.
Mycobacterium avium intracellulare lymphadenitis
Lymphadenitis is the most common manifestation of nontuberculous mycobacterial (NTM) disease in childhood. It typically occurs in children between one and five years of age. The cervicofacial nodes, particularly the submandibular nodes, are most frequently involved.
NTM lymphadenitis generally presents as a unilateral, nontender node (<4 cm in diameter) that slowly enlarges over several weeks. The overlying skin then gradually changes from pink to violaceous and thins to become parchment-like and may eventually suppurate through a sinus tract.
Fever and other systemic findings are variable and are more common if the lymph nodes become secondarily infected by pyogenic bacteria (eg, staphylococcal or streptococcal species).
VSD and AR syndrome
Prolapsed aortic cusp, with resulting AR, is usually associated with outlet VSD and occasionally perimembranous VSD. 5% of VSD patients (higher in Far Eastern countries).
Transient antiphopsholipid antibodies
Lupus anticoagulants are acquired inhibitors that may produce a prolonged aPTT. They are commonly seen in children, frequently associated with recent infections, particularly viral infections, and usually are transient. Lupus anticoagulants seen in these clinical settings are neither a risk for bleeding nor for thrombosis.
General movement assessment
The General Movements Assessment is a non-invasive and cost-effective tool with demonstrated reliability for identifying infants at risk for cerebral palsy.
A normal General Movements Assessment at 3 months in a term high-risk infant is likely associated with a low risk for moderate/severe cerebral palsy. The finding of cramped synchronized General Movements is a strong predictor for the diagnosis of cerebral palsy by 2 years of age in the term population with neonatal encephalopathy.
GMA was feasible in an Australian context and accurately identified CP with a sensitivity and specificity comparable with European standards and published neuroimaging data. For detecting CP, we had a sensitivity of 98% and specificity of 94%.
Cleidocranial dysostosis/dysplasia
Exam stem (2018): 15.You are asked to see an 8-year-old boy with retained deciduous and supernumerary teeth. On further examination you note he has short stature, his fontanelle is still open, and he has hypermobile shoulders as shown.
UTD
It is characterized by delayed closure of the cranial sutures, distinctive craniofacial features, poor dentition, and hypoplastic clavicles. The skull sutures may take years to close or, in some cases, may never close. Patients with CCD have a broad forehead, midface hypoplasia, and significant dental anomalies that require very close surveillance, including supernumerary teeth, lack of eruption of permanent teeth, and abnormal deciduous dentition.
Klippel–Feil syndrome.
Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and/or a low hairline at the back of the head.
Limitation in range of motion of the neck is the most common physical sign.
Classic Triad (less than 50%)
Limited neck motion
Low hairline
Short neck
Overview of osteogenesis imperfecta features
Clinical manifestations of OI include:
●Excess or atypical fractures (brittle bones)
●Short stature.
●Scoliosis.
●Basilar skull deformities, which may cause nerve compression or other neurologic symptoms.
●Blue sclerae.
●Hearing loss (usually detected in later childhood to early adulthood).
●Opalescent teeth that wear quickly (dentinogenesis imperfecta).
●Increased laxity of the ligaments and skin.
●Wormian bones (small, irregular bones along the cranial sutures).
●Easy bruisability.
Facioscapulohumeral dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. It is a complex genetic disorder characterized in most cases by slowly progressive muscle weakness involving the facial, scapular, upper arm, lower leg, and hip girdle muscles, usually with asymmetric involvement.
The age of symptom onset varies from infancy to middle age, but is usually in the second decade.
Ehlers Danlos clues
The diagnosis of EDS in one of its forms should be suspected when a patient presents with some combination of features seen in one or several of the types of EDS, including joint hypermobility, multiple joint dislocations, translucent skin, poor wound healing, easy bruising, and unusual scars. This diagnosis should also be considered in any young individual who experiences spontaneous rupture of an organ (eg, gut or uterus) or dissection of a major blood vessel.
A variety of clinical features are seen in the different forms of Ehlers-Danlos syndrome (EDS), often resulting in skin hyperextensibility, joint hypermobility, and tissue fragility.
Joint dislocations or subluxations are common in most forms of EDS, and joint pain and premature degenerative arthritis are often consequences of the disorder. Pes planus is common in all forms, and pectus excavatum and a high arched palate can also be present in all of the forms of EDS. Musculoskeletal pain is common in patients with joint hypermobility, and complex regional pain syndrome has been described as a rare complication with both the hypermobility and classic forms of EDS.
Gram negative diplococci
Neisseria meningitidis, gonorrhoea
Moraxella
Gram negative coccobacilli
H. influenzae
B. pertussis
Pasteurella
Brucella
Gram negative bacillus
E. coli, enterobacter, Klebsiella (EEK) Serratia Pseudomonas Salmonella, Shigella, Yersinia Proteus
Gram negative comma-shaped
C. jejuni
V. cholerae
H. pylori
Gram positive bacilli
Listeria (aerobic)
Clostridium (anaerobic)
Gram positive cocci
Catalase positive = Staph
Coagulase positive = S. aureus, negative = CONS (saprophyticus, epidermidis)
Catalase negative = Strep
Alpha haemolysis: viridans, pneumoniae
Beta haemolysis: pyogenes (group A), agalactiae (group B)
No haemolysis (gamma?): bovis, Enterococci (group D)
Gram positive branching filaments
Nocardia
Actinomyces
FRT clinical syndromes - fever alone
Malaria*
Typhoid
Dengue
Hepatitis A
*Malaria should be considered in any child with undifferentiated fever up to two years after returning from an endemic region
Falciparum malaria is the most common serious infection and cause of death in returning travellers
FRT clinical syndrome - fever and diarrhoea
Malaria* Typhoid Dengue Hepatitis Travellers’ diarrhoea** Cholera Dysentery (bloody diarrhoea)
*Malaria should be considered in any child with undifferentiated fever up to two years after returning from an endemic region
**Travellers’ diarrhoea: >3 diarrhoeal episodes in a 24-hour period after travel plus one of the following: cramping, abdominal pain, nausea, vomiting, fever
FRT clinical syndromes - fever and respiratory
Malaria*
Pneumonia
Influenza
Tuberculosis (TB)
*Malaria should be considered in any child with undifferentiated fever up to two years after returning from an endemic region
Dengue
The incubation period of DENV infection ranges from 3 to 14 days; symptoms typically develop between 4 and 7 days after the bite of an infected mosquito. As per RCH lecture, if >14 days cannot be Dengue.
Dengue fever — DF (also known as "break-bone fever") is an acute febrile illness defined by the presence of fever and two or more of the following but not meeting the case definition of dengue hemorrhagic fever: ●Headache ●Retro-orbital or ocular pain ●Myalgia and/or bone pain ●Arthralgia ●Rash ●Hemorrhagic manifestations (eg, positive tourniquet test, petechiae, purpura/ecchymosis, epistaxis, gum bleeding, blood in emesis, urine, or stool, or vaginal bleeding) ●Leukopenia
Dengue hemorrhagic fever — The cardinal feature of DHF is plasma leakage due to increased vascular permeability as evidenced by hemoconcentration (≥20 percent rise in hematocrit above baseline), pleural effusion, or asciteS. DHF is also characterized by fever, thrombocytopenia, and hemorrhagic manifestations (all of which may also occur in the setting of DF).
In the setting of DHF, the presence of intense abdominal pain, persistent vomiting, and marked restlessness or lethargy, especially coinciding with defervescence, should alert the clinician to possible impending DSS (Dengue shock syndrome). Dengue shock syndrome — DSS consists of DHF with marked plasma leakage that leads to circulatory collapse (shock) as evidenced by narrowing pulse pressure or hypotension.
FRT clinical syndromes - short incubation <10 days
Arboviral infections, eg Dengue, Yellow fever Influenza Campylobacter Shigella Chikungunya
Nonspecific (crossing multiple incubation periods in RCH guideline): malaria, typhoid, viral haemorrhagic fever, rickettsial infection
FRT clinical syndrome - intermediate incubation (10-21 days)
Measles (median 13 days)
Q fever
Nonspecific (crossing multiple incubation periods in RCH guideline): malaria, typhoid, viral haemorrhagic fever, rickettsial infection
FRT clinical syndromes - long incubation >21 days
Hepatitis Rabies Amoebic liver abscess Tuberculosis Filariasis HIV
Nonspecific (crossing multiple incubation periods in RCH guideline): malaria, typhoid, viral haemorrhagic fever, rickettsial infection
FRT clinical syndromes - acute abdomen of GI haemorrhage
Typhoid (only one listed on RCH guideline)
FRT clinical syndromes - jaundice
Viral hepatitis, measles
FRT clinical syndromes - fever persisting >2 weeks
Malaria, enteric fever, EBV, CMV, toxoplasmosis, acute HIV, acute schistosomiasis, brucellosis, TB, Q fever
FRT clinical syndromes - fever onset >6 weeks after returning
Plasmodium vivax or P ovale, acute hepatitis (B, C or E), TB, amoebic liver abscess
Idiopathic intracranial hypertension
Idiopathic intracranial hypertension (IIH) is also called pseudotumor cerebri. It is a disorder defined by clinical criteria that include symptoms and signs isolated to those produced by increased intracranial pressure (eg, headache, papilledema, vision loss), elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and no other cause of intracranial hypertension evident on neuroimaging or other evaluations. IIH primarily affects females of childbearing age who are overweight.
A typical presentation of IIH is that of an overweight female of childbearing age who complains of headaches and is found to have papilledema on funduscopic examination.
Symptoms
●Headache (84 to 92 percent)
●Transient visual obscurations (68 to 72 percent)
●Intracranial noises (pulsatile tinnitus; 52 to 60 percent)
●Photopsia (48 to 54 percent)
●Back pain (53 percent)
●Retrobulbar pain (44 percent)
●Diplopia (18 to 38 percent), typically from nonlocalizing sixth nerve palsy
●Sustained visual loss (26 to 32 percent)
●Neck pain (41 percent)
Signs
●Papilledema (hallmark)
●Visual field loss
●Sixth nerve palsy
Elevated opening pressure on LP is an essential element of the diagnosis of IIH.
The earliest visual field defect in IIH is often an inferior nasal step defect followed by peripheral nasal loss. Arcuate defects may appear next followed by a gradual depression of the entire field, most pronounced peripherally.
RCH revision lecture neurologist said diplopia d/t 6th nerve palsy.
Rx with acetazolamide
NAI - red flag injuries
(RCH)
Age dependent
Essentially anything in <6mo
TEN 4 FACES Clinical Decision Rule (adapted from Pierce et al, 2009) - If these criteria are met, have clinical concern for abuse:
Bruising in TEN location (Torso, Ear, Neck) in child <4years-old
Any bruising in child <4-6months-old
Injury to FACES (Frenulum, Angle of jaw, Cheek, Eyelid, Sclera) in child of any age
Any rib fracture Multiple fractures of varying age Skull fractures other than single parietal skull fracture Any other fracture in a non-ambulant child Any long bone fracture EXCEPT - supracondylar humerus - distal radius - mid-clavicular - distal tibial
Any suspected or proven intracranial injury except multivehicle collision or high distance fall
Any altered conscious state, collapse or arrest. Consider abusive head trauma, ingestion/poisoning, toxins and suffocation
Immersion (near drowning in bath or similar)
Strangulation or suffocation
Female genital mutilation
Gastroschisis and omphalocele
Gastroschisis and omphalocele are defects of the abdominal wall that occur in utero, can be detected prenatally using fetal ultrasonography, and result in herniation of abdominal contents. In contrast to omphalocele, there is no sac covering the intestines in gastroschisis.
An omphalocele commonly occurs along with other birth defects (such as heart defects and kidney defects) and with specific genetic syndromes (such as Down syndrome, trisomy 18, trisomy 13, and Beckwith-Wiedemann syndrome).
NAI concerning fractures
Posteromedial rib fracture.
Metaphyseal corner fracture.
Key points:
All fractures in non-ambulatory children are concerning for abuse.
In infants, fractures are more commonly attributed to abuse than to accidents.
No specific fracture type is pathognomonic for abuse.
Certain locations and types of fractures generate significant concern for an abusive cause (specifically posteromedial rib fractures and metaphyseal corner fractures).
Certain skull fractures are concerning for abuse (see VFPMS Guideline: Head injury).
Multiple fractures and/or fractures of different ages generate suspicion regarding abuse.
Dating of fractures is inexact.
Many children with fractures will have minimal or no external sign of injury
Cataplexy
Cataplexy is the most specific symptom of narcolepsy. It is seen in approximately 80 percent of children with narcolepsy. It typically emerges around the same time as excessive sleepiness or in the months thereafter.
Typical cataplexy is characterized by sudden, transient loss of muscle tone; the weakness or paralysis usually arises in response to strong emotions such as laughter, surprise, anger, fright, or anticipation of reward. Consciousness is fully preserved. Episodes usually last under a minute with full return of function thereafter. The severity of attacks ranges from a slight head or shoulder drop (partial cataplexy) to buckling of the knees and sudden collapse to the floor (full cataplexy).
Persistent cataplexy characterized by facial weakness is common in children, manifested by the jaw dropping open, eyelid drooping (ptosis), head rolling, or tongue thrusting movements. This has given rise to the term “cataplectic facies,” which is a unique clinical feature of childhood narcolepsy.
Excessive daytime sleepiness (EDS) is an essential clinical feature of narcolepsy and is the most common presenting symptom in both children and adults.
The classic tetrad of narcolepsy type 1 symptoms is EDS, cataplexy, hypnagogic hallucinations, and sleep paralysis.
Hypnagogic hallucinations consist of vivid, dream-like imagery at sleep onset; the same phenomena can more occasionally occur on awakening, when they are then referred to as hypnopompic hallucinations. Sleep paralysis is a momentary inability to move the body, most commonly on awakening in the morning or during the night, but occasionally as one is drifting off to sleep.
Oppositional defiant disorder treatment
Parent management training
Anorexia nervosa treatment
Family based therapy
Syndromes a/w Hirschprung disease
Trisomy 21 Bardet Biedl Cartilage hair hypoplasia Congenital central hypoventilation syndrome Familial dysautonomia MEN2 Mowat-Wilson syndrome Smith-Lemli-Opitz Waardenburg syndrome
Premature adrenarche
Adrenarche refers to the progressive maturation of the adrenal cortex that normally becomes manifest after five years of age and is associated with an increased serum dehydroepiandrosterone sulfate (DHEAS) level. Pubarche is the physical manifestation of adrenarche and is characterized by the development of pubic hair, axillary hair, adult apocrine body odor, acne, and increased oiliness of hair and skin.
Pubarche is considered premature if it develops before age eight years in girls and nine years in boys. Premature adrenarche, indicated by a premature elevation of DHEAS levels, is the most common cause of premature pubarche. Premature adrenarche is considered to be a variant of normal development. It is a diagnosis of exclusion.
If no other evidence secondary sexual characteristics, normal linear growth velocity, no history exogenous androgen exposure, and normal bone age, nil further required. Otherwise check DHEAS, 17OH, androstenedione and testosterone. Raised DHEAS but normal/<200 17OH still consistent with premature adrenarche.
As per UTD, puberty often starts 1-2 years earlier than average for these kids, and as per a paper, final height is normal.
Loeys-Dietz syndrome (LDS)
Gene: TGFBR1/2
Similar to Marfans: Aortic aneurysm/dissection
Differences: Bifid uvula/cleft palate, arterial tortuosity, hypertelorism, diffuse aortic and arterial aneurysms, craniosynostosis, clubfoot, cervical spine instability, thin and velvety skin, easy bruising.
Most patients with a TGFBR1 or TGFBR2 mutation have Loeys-Dietz syndrome, which is often characterized by hypertelorism (widely spaced eyes), a split uvula or cleft palate, tortuous arteries, and aortic aneurysms.
Time of onset food poisoning
Hours - Staph, Bacillus cereus
24hrs-days - E. coli, Salmonella, Campylobacter, Shigella
7 days - Protozoans e.g. Crytosporidium
For suspected foodborne, illness, the timing of symptom onset following exposure to the suspect food can be informative. Ingested preformed toxins (eg, those produced by Staphylococcus aureus and Bacillus cereus) cause illness within hours of exposure, whereas ingested pathogens that subsequently produce toxin (eg, enterotoxigenic Escherichia coli) or directly damage or invade across the intestinal epithelial cell wall (eg, Salmonella, Campylobacter, Shigella) usually result in symptoms after approximately 24 hours or longer. Protozoal pathogens (eg, Cryptosporidium parvum) generally produce enteric illness after an incubation period of approximately seven days.
Juvenile myelomonocytic leukaemia
Associated with NF1 and Noonan syndrome
The vast majority of children with JMML have somatic and/or germline mutations of genes involved in the RAS/MAPK signaling pathway. A group of distinctive genetic syndromes arise from germline mutations in genes of the RAS/MAPK pathways. These mutations induce constitutive activation of the pathway, and are collectively known as “RASopathies,” or neuro-cardio-facio cutaneous syndromes.
Bronchiolitis obliterans
Adenovirus
Bronchiolitis obliterans describes a pattern of histologic abnormalities affecting the small airways, characterized by large-airway bronchiectasis and fibroproliferative thickening of the bronchiolar walls that narrows the bronchiolar lumen and may progress to the complete obliteration of bronchioles. In children, the most common cause is postinfection (postinfectious bronchiolitis obliterans), which has been particularly described after adenovirus and, less commonly, with mycoplasma pneumonia.
Fluid intake goals prevention nephrolithiasis
In all children with nephrolithiasis, adequate fluid intake is a key component to reducing the risk of recurrent stones. High fluid intake increases the urine flow rate and lowers the urine solute concentration, thereby reducing the likelihood of new stone formation. Fluid intake is targeted to maintain the following 24-hour urine volumes based upon age:
●Infants – ≥750 mL
●Small children below five years of age – ≥1000 mL
●Children between 5 and 10 years of age – ≥1500 mL
●Children greater than 10 years of age – ≥2000 mL
Rasopathies
Noonan ,NF1, Costello, cardiofacialcutaneous syndrome
Aurer rod
AML
Reed Sternberg cell
Hodgkin lymphoma
EBV
Th1 phenotype
IFN gamma
Macrophages
IgG
Th2 phenotype
IL4/5/13
Mast cells, eosinophils
IgE
Th17 phenotype
IL 17, 22
Neutrophils, monocytes
6 week milestones
Head lag
Fix and follow 90 degrees
Smile
3 month milestones
Raise head prone, no head lage
F+F 180 degrees, hand to midline
Vowel sounds, turn to sound
6 month milestones
Roll, sit with support
Transfer, reaches, mouthing
Babble, turns to name
Play with feet, holds bottle when feed
9 month milestones
Sit without support, stand with support
2 syllable bable
Finger feeds
12 month milestones
Crawl, pull to stand
Pincer grip
2 words with meaning
Wave, clap
15 month milestones
Walks well
Several words, echolalia
Drink from cup, points with purpose
18 month milestones
Scribble
50 words, 1 step commands
Spoon, takes shoes/socks off
2 year milestones
Climb stairs one at a time, kick ball
Vertical line, 8 block tower
2 step command
Plays alone, spoon and fork
