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Peds
Age 4 Months - Developmental Milestones
Gross Motor
Sits With Support
Rooting Reflex Disappears
Moro Reflex Disappears
Fine Motor
Reaches Across Midline
Language
Turns to Voice
Laughs
Social / Cognitive
Enjoys Looking Around
2 mins
Age 6 Months - Developmental Milestones
Gross Motor
Palmar Reflex Disappears
Sits Propped Up On Hands
Rolls
Fine Motor
Transfers Objects Hands to Hands
Raking Grasp
Language
Babbles
Responds to Name
Social / Cognitive
Stranger Anxiety Develops
2 mins
Age 9 Months - Developmental Milestones
Gross Motor
Pulls to Stand
Starts Cruising
Fine Motor
Three-Finger Pincer Grasp
Holds Bottle or Cup
Language
Starts Sounding "Mama" or "Dada"
Social / Cognitive
Waves Bye
Separation Anxiety
Plays Pat-A-Cake
2 mins
Age 1 Year - Developmental Milestones
Gross Motor
Stands Well
First Steps
Throws Ball
Points to Objects
Babinski Reflex Disappears
Fine Motor
Two-Finger Pincer Grasp
Language
"Mama & Dada"
Social / Cognitive
One-Step Commands with Gesture
2 mins
Age 18 Months - Developmental Milestones
Gross Motor
Climbs Up Stairs
Runs
Fine Motor
Stacks Three Blocks
Eats with Spoon
Removes Clothing
Language
10-25 Word Vocabulary
Social / Cognitive
“Mine”
Pretend Play
2 mins
Age 2 Years - Developmental Milestones
Gross Motor
Jumps
Fine Motor
Copies a Line
Stacks Six Blocks
Turns Pages
Language
Two-Word Phrases
Half of Speech is Understandable
200 Words by Age 2
Social / Cognitive
Parallel Play
Begins Toilet Training
Rapprochement
2 mins
Age 3 Years - Developmental Milestones
Gross Motor
Walks Up/Down Steps with Alternating Feet
Rides Tricycle
Fine Motor
Stack Nine Block Tower
Copies Circle
Uses Utensils
Language
Three-Word Sentences
75% Speech Understood by Stranger
Social / Cognitive
Knows Gender / Age
2 mins
Age 4 Years - Developmental Milestones
Gross Motor
Hop on One Foot
Fine Motor
Copies Square
Uses Fork Well
Language
100% Speech Understandable
Identifies Colors
Social/ Cognitive
Cooperative Play
Imaginary Friends
2 mins
Patau Syndrome
Pathophysiology
Trisomy 13
Signs and Symptoms
Severe Intellectual Disability
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft Lip/Cleft Palate
Rocker Bottom Feet
Omphalocele
Cystic Kidneys
Ventricular Septal Defect (VSD)
2 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
3 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Single palmar crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
3 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
3 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
2 mins
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability
Cardiac Abnormalities
3 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability
Extreme Friendliness with Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
2 mins
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