Developmental Delay Flashcards
Global developmental delay vs Intellectual disability?
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)
Fragile X patho physiology
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.
PKU Pathophysiology ?
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.
Down syndrome comorbidities?
Trisomy in 21, increased risk of heart defects, obesity and diabetes, leukaemia and early onset Alzheimer’s
Turners syndrome need to screen for?
Aortic dissection risk may also have coarctation of the aorta, can have kidney agenesis or horseshoe kidney.
Signs of aortic coarctation?
Hypertension, radial femoral delay
Mother on SSRIs?
Baby might have SSRI withdrawals
Exposures to methamphetamines?
Can be correlated with lower levels of visual motor integration, attention, verbal memory, long-term memory - minor deficits
Opioid exposure in infant?
Need to follow them, possibly even methadone can cause alterations. Deficits once again can be lifelong.
Exposure to nicotine?
Low birth weight, increased irritability post birth, could be a link between attention disorders and nicotine use
Recommended caffeine intake while pregnant
Less than 300mg, only 2 x 237 ml cups - medium Tim’s cup.
FASD?
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
ASD evaluation?
Social interaction deficits and behaviours (repetitive and restrictive)
Increased risk with prematurity, advanced parental age, pregnancies less than a year apart
Shaken baby syndrome presentation?
Seizure like episode, decreased LOC, trouble breathing, bruising - does the story match the injury?
Suspect shaken baby? Next steps?
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)
Environmental neglect - what can you do?
Try and get the child into an institutional daycare!
Congenital Rubella Syndrome sx?
Hearing defects, cataracts, heart defects, intellectual disability
Need to avoid exposure to rubella in pregnancy
Varicella in pregnancy sx?
Limb and bone malformation, brain atrophy, structural defects can usually be picked up on US
Congential CMV sx?
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
Types of CP?
Spastic - tight and stiff muscles - most common
Dyskinetic - involuntary movements
Ataxic - shaky movements
Mixed
Lower physical functioning is correlated with lower intellectual functioning
Hydrocephalus types?
Communicating - CSF flow is blocked after the ventricles
Non-communicating - CSF is blocked between ventricles
Hydrocephalus presentation?
Head enlargement/ fontanelle bulging, fever, vomiting, irritability, seizures, sun setting of the eyes, prominent scalp veins
Types of spina bifida?
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
Diagnostic criteria for ODD?
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
