development Flashcards
what does the gunthrie test measure?
Congenital Hypothyroidism (CHT) Sickle Cell disorders Cystic Fibrosis (CF) six inherited metabolic diseases (IMDs) phenylketonuria (PKU) medium-chain acyl-CoA dehydrogenase deficiency (MCADD) maple syrup urine disease (MSUD) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine unresponsive) (HCU)
trisomy 21 investigations
triple screen increase BHCG decrease inhibin A
AFP, estriol
US: increased nuchal translucency
echo
what are the causes of trisomy 21
robertsonian translocation
mosaicism
maternal age 1:25 chance if greater than 45
symptoms of trisomy 21
face- flat round facies up slanting palpebral fissures epicanthal folds eyes- brushfield spots in the iris ears= small flat occiput third fontanelle braciocephaly small mouth and protruding tongue short neck and nuchal skin hands= simian crease fifth inturning finger feet= saddle toe and joint hyperflexiability
medical conditions in trisomy 21
hirschsprung’s disease hypo/hyperthyroidism insulin dependent diabetes sleep apnea early onset alzheimer’s ALL CHD infertility in males
newborn gross motor development
head lag in pull to sit but head extension in ventral suspension
when should the primitive reflexes be lost at?
4-6 months
when should the child be sitting without support?
6 months to do this 2 very important reflexes need to be developed parachuting and righting reflex
when would you be considered if the child is not sitting?
by 9 months
what would you be concerned if a 9 month old hasn’t been able to do this critical step in gross motor development?
sitting by 9 months
locomotor skills- by 10 months what should a child do?
be cruising around the furniture
what should a 12 month old be able to do- gross motor?
50% are walking independently by 1 year old.
If a child is not walking by this age it is a red flag
18 months
20 months what can they do gross motor?
kicks ball
3 years old - gross motor
jump from bottom step, stand on one leg, and ride a tricycle
4 year old - gross motor
hop on one leg, go down the stairs one leg at a time, and ride a bike
at 5 years old what can they do gross motor
skip
3-4 months fine motor development
hand watching