Developmental Delay

Question 1

Global developmental delay vs Intellectual disability?

Answer 1

Intellectual - deficits in intellectual functions, adaptive function and these occurring the developmental periods

Global developmental delay - at least 2 SD in at least 2 areas such as intellectual functions, physical milestones (less than 5)

Question 2

Fragile X patho physiology

Answer 2

X linked pattern, males are more severely impaired, but men can carry with no symptoms, both sexes even if just carriers can be effected.

Severity has to do with triplet repeats in the genetic code.

Question 3

PKU Pathophysiology ?

Answer 3

Mutation of chromosome 12 - Unable to move tyramine and tryptophan into the brain ,unable to make dopamine, serotonin. Can cause severe and irreversible disability. Can have maternal PKU need to watch out. Have to follow a specific diet and then take medications to improve innate enzyme activities.

Question 4

Down syndrome comorbidities?

Answer 4

Trisomy in 21, increased risk of heart defects, obesity and diabetes, leukaemia and early onset Alzheimer’s

Question 5

Turners syndrome need to screen for?

Answer 5

Aortic dissection risk may also have coarctation of the aorta, can have kidney agenesis or horseshoe kidney.

Question 6

Signs of aortic coarctation?

Answer 6

Hypertension, radial femoral delay

Question 7

Mother on SSRIs?

Answer 7

Baby might have SSRI withdrawals

Question 8

Exposures to methamphetamines?

Answer 8

Can be correlated with lower levels of visual motor integration, attention, verbal memory, long-term memory - minor deficits

Question 9

Opioid exposure in infant?

Answer 9

Need to follow them, possibly even methadone can cause alterations. Deficits once again can be lifelong.

Question 10

Exposure to nicotine?

Answer 10

Low birth weight, increased irritability post birth, could be a link between attention disorders and nicotine use

Question 11

Recommended caffeine intake while pregnant

Answer 11

Less than 300mg, only 2 x 237 ml cups - medium Tim’s cup.

Question 12

FASD?

Answer 12

Global developmental problems, leading cause of developmental disability in North America. Severity can vary and is life long. Often trouble with the law. Worst outcomes in the first and second trimester

Question 13

ASD evaluation?

Answer 13

Social interaction deficits and behaviours (repetitive and restrictive)

Increased risk with prematurity, advanced parental age, pregnancies less than a year apart

Question 14

Shaken baby syndrome presentation?

Answer 14

Seizure like episode, decreased LOC, trouble breathing, bruising - does the story match the injury?

Question 15

Suspect shaken baby? Next steps?

Answer 15

Tx - urgent referral to peds and often a pediatric neurosurgeon, can take an LP, serial CTs, fundoscopy (do it early and repeatedly and record findings)

Question 16

Environmental neglect - what can you do?

Answer 16

Try and get the child into an institutional daycare!

Question 17

Congenital Rubella Syndrome sx?

Answer 17

Hearing defects, cataracts, heart defects, intellectual disability

Need to avoid exposure to rubella in pregnancy

Question 18

Varicella in pregnancy sx?

Answer 18

Limb and bone malformation, brain atrophy, structural defects can usually be picked up on US

Question 19

Congential CMV sx?

Answer 19

More likely to be premature, low birth weight, might have neural tube disorders - hearing loss

A very common illness, especially in children under 5, try to avoid sharing saliva, may not even show any SX

Question 20

Types of CP?

Answer 20

Spastic - tight and stiff muscles - most common
Dyskinetic - involuntary movements
Ataxic - shaky movements
Mixed

Lower physical functioning is correlated with lower intellectual functioning

Question 21

Hydrocephalus types?

Answer 21

Communicating - CSF flow is blocked after the ventricles

Non-communicating - CSF is blocked between ventricles

Question 22

Hydrocephalus presentation?

Answer 22

Head enlargement/ fontanelle bulging, fever, vomiting, irritability, seizures, sun setting of the eyes, prominent scalp veins

Question 23

Types of spina bifida?

Answer 23

Myelomeningocele - meninges and spinal nerves protrude through the defect severely damaging nerves

Meningocele – meninges protrude containing CSF only. Spinal nerves can be affected but not as severely as above.

Lipomelomeningocele: causes abnormal fatty tissue to protrude through a defect in the vertebrae – nerves may be compressed.

Spina Bifida Occulta – hair patch but often hidden with no disability present

Question 24

Diagnostic criteria for ODD?

Answer 24

Pattern of angry or irritable mood - 6 months, 4 sx, with at least one not being at a sibling

• angry or irritable mood
• argumentative/ defiant behaviour
• vindictiveness

Distress and impacts function
Not due to anything else

Question 25

ADHD - Pathophysiology?

Answer 25

Smaller pre-frontal cortex - 2-3 years younger, as compared to motor cortex development

Both genetic and environmental

Question 26

ADHD diagnostic criteria

Answer 26

Six or more sx for 6 months that fall into either the inattention or the hyperactivity and impulsivity fields

Question 27

Tx of ADHD

Answer 27

Behavioural education, structure and help with parenting, managing self-esteem, focus on positives,

Long acting stimulants - Ritalin to Adderall. No short acting, watch weight loss, HR and BP, 2-3 weeks for titration, 3 months after that.

Question 28

Signs of Fragile X ?

Answer 28

Large ears, long narrow face, hand flapping not making eye contact, problems with development, sensitivity to light/ sound

Question 29

Treatment of PKU?

Answer 29

Low phenylalanine diet - no proteins basically, can give medications to improve innate enzyme activity. Need to adhere to the diet which is hard.

Question 30

Prevalence of Downs?

Answer 30

1 in 750 live births increasing as mothers get older.

Question 31

Signs of Turners?

Answer 31

Short stature, normal intellect, look out for coarctation of the aorta

Remove gonads, GH therapy and estrogen therapy, usually infertile

Question 32

Fetal hydrops

Answer 32

Fatal edema - associated with RH incompatibility