Development and common neurodevelopment conditions

Question 1

Rooting

Answer 1

Appears: Birth

Disappears: 3 months

Question 2

Moro

Answer 2

Appears: Birth

Disappears: 5-6 months

In response to the loud movement/sound, the baby throws back his or her head, extends out his or her arms and legs, cries, then pulls the arms and legs back in.

Question 3

Tonic neck response

Answer 3

Appears: Birth
Disappears: 5-6 months

The tonic neck reflex is often called the fencing reflex. When your baby is lying down and their head is turned to the right or left, the corresponding arm extends while the other arm bends next to their head. AKA fencing response

Question 4

Palmar

Answer 4

Appears: Birth
Disappears: 6 months

Question 5

Plantar

Answer 5

Appears: Birth
Disappears: 9-10 months

Question 6

Lateral prop

Answer 6

Appears: 5-6 months
Disappear: Persists

Lateral propping occurs when the baby is falling to one side or the other and he extends the arm laterally to catch her/himself

Question 7

Landeau reflex

Answer 7

Appears: 6 months
Disappears: 24 months

A normal response of infants when held in a horizontal prone position is to maintain a convex arc with the head raised and the legs slightly flexed. It is poor in those with floppy infant syndrome and exaggerated in hypertonic and opisthotonic infants.

Question 8

Parachute

Answer 8

Appears: 8-9 months
Disappears: Persists

When a baby senses that they’re about to fall, their arms reflexively extend to break the fall

Question 9

1 month

Answer 9

Gross motor - partial head control; primitive reflexes predominate
Fine motor - clenched fists
Language - alerts to sound, some small sounds
Personal/social - fixates and follows 90 degrees

Question 10

3 months

Answer 10

Gross motor - lifts chest off bed, primitive reflexes less prominent
Fine motor - hands open, reaches towards objects
Language - coos
Personal/social - follows 360 degrees

Question 11

5 months

Answer 11

Gross motor - rolls prone to supine; holds head erect
Language - orients to sounds; gives “raspberry”
Personal/social - frolics when played with

Question 12

6-7 months

Answer 12

Gross motor - anterior prop, sits without support, bounces when standing
Fine motor - transfer objects, voluntary palmar grasp; feeds self (cookie)
Language - babbles; recognizes voices, imitates noise, responds to name
Personal/social - looks for lost toy, mirror play, drinks from cup

Question 13

8 months

Answer 13

Gross motor - lateral prop
Fine motor - rings bell; radial raking grasp
Language - nonspecific “mama,” understands “no”
Personal/social - separation anxiety, attention seeking

Question 14

10 months

Answer 14

Gross motor - stands with support
Fine motor - plays with bell, claps
Language - specific “Dada” and “mama”
Personal social - waves bye-bye, plays patty cake

Question 15

12 months

Answer 15

Gross motor - first steps
Fine motor - pincer grasp, throw objets in containers
Language - 2-3 specific words
Personal/social - helps to dress, takes turns

Question 16

15 months

Answer 16

Gross motor - climbs up stairs
Fine motor - uses pencil
Language - 4-6 words, identifies 1 body part, follows 1 step commands
Personal/social - indicates when wet, spoon feeds, builds block tower, gives kisses

Question 17

18 months

Answer 17

Gross motor - runs stiffly, handedness determined
Fine motor - constructive play, scribbles, imitates lines
Language - 10 words, points to 1 pictures, follows 2 step command
Personal/social - parallel play, takes off shoes, turns pages, does puzzles

Question 18

24 months

Answer 18

Gross motor - walks up and down stairs
Fine motor - imitates vertical line
Language - says “I,” “yes,” “no”; identifies 4 body parts, 3 word sentences
Personal/school - parallel play; use fork, indicates toilet needs

Question 19

Chronic daily headache

Answer 19

Recurrent HA averaging 15 days/month wo a serious underlying medical condition

Question 20

Pediatric treatment of migraines

Answer 20

Cyproheptadine for younger patients

Question 21

Enuresis

Answer 21

Here re: primary remission, if you have a patient who had stopped bedwetting but then started doing it again 2 years later, that’s not normal

Question 22

DSM-IV criteria for Tourette’s

Answer 22

Question 23

Treatment for Tourette’s

Answer 23

Question 24

Natural history of Tourette’s

Answer 24

Question 25

ADHD treatment

Answer 25

First line stimulants

Then…

Question 25

ADHD treatment

Answer 25

First line stimulants

Then…

Question 26

Classifying ID

Answer 26

Question 27

Treating ASD - pharmacotherapy

Answer 27

Question 28

Treating ASD - pharmacotherapy

Answer 28

Question 29

Fragile X - clinical

Answer 29

Question 30

Fragile X - genetics

Answer 30

Expansion of CGG trinucleotide repeat (>200 repeats) in the Familial Mental Retardation 1 (FMR1) gene on chromosome Xq27.3. (A mnemonic for remembering the CGG trinucleotide repeat is, Child with Giant Gonads).
The FMR1 protein=important RNA-binding protein that binds to mRNAs from genes associated with ASD (exact cellular function yet to be fully elucidated) ***Because this gene is on the X chromosome, and because random X inactivation (lyonization) occurs in females, they are less often and less severely affected

Question 31

Rett Syndrome

Answer 31

Rett’s syndrome results from a mutation in the MECP2 gene located at Xq28 that encodes methyl CpG binding protein 2, which is involved in binding to methylated DNA, modulating gene expression. This X-linked disorder is most often seen in females, and it is thought to be most often fatal in boys, although cases of MECP2 mutations in male infants and children with intellectual disability and other features have been identified. A Rett-like syndrome characterized by severe intellectual disability and early- onset seizures in females results from a mutation in the gene CDKL5 found at Xp22.5.

Question 32

Angelman syndrome - clinical

Answer 32

Static non-progressive disorder

Intractable epilepsy

Question 33

Angelman syndrome - genetics

Answer 33

Question 34

Down syndrome

Answer 34

Results from inheriting three copies (i.e., trisomy) of the 21st chromosome or, less commonly,chromosomal translocations resulting in three copies of a portion of chromosome 21.
Diagnosis in the majority of cases via karyotyping.
Increased maternal age is a risk factor. The frontal lobes are small and underdeveloped, and the superior temporal gyri are small and thin.
Clinical features: medial epicanthal folds, slanting palpebral fissures, micrognathia (small mouth) -> apparently large tongue, so-called simian crease (in which there is a single palmar crease), Brushfield’s spots (white spots of depigmentation in the iris), clinodactyly (incurving of the fingers), short stature, and other features. In addition to ID see, seizures (including infantile spasms), hematologic malignancies (such as leukemia), and congenital heart.
Early dementia with Alzheimer-type pathology is seen, as the β-amyloid gene is on chromosome 21.
These patients are at risk of cervical spinal cord compression due to atlantoaxial instability.

Question 35

Patau’s syndrome

Answer 35

Trisomy 13 or Patau’s syndrome is characterized by microcephaly, microphthalmia, iris coloboma, low-set ears, cleft lip and palate, polydactyly (excess number of fingers), prominence of the heels, and cardiac abnormalities. Life expectancy is typically not beyond early childhood.