Developmental Paediatrics Flashcards
when do the anterior fontanelles close at?
between 10 and 24 months
what are some causes of delayed closure of the anterior fontanelle?
congenital hypothyroidism, hydrocephalus, rickets, genetic causes (trisomy 21, Russel silver syndrome, achondroplasia
when does macrocephaly occur?
OFC is more than 2 SD than the average head size for age and sex.
what should you ask for in the history of a child with a big head?
vomiting, high pitch cry, developmental delay
RF for hydrocephalus (preterm birth, IVH, meningitis, learning disability (ASD, fragile X) or family history of genetic syndrome as with macrocephaly (neurofibromatosis 1)
what are red flags on examination of an enlarged head?
signs of raised ICP (bulging fontanelle, splaying of sutures, sunsetting of the eyes, papilloedema), evidence of developmental delay
syndromic features
what are the common causes of big head with a normal brain
familial, ASD, neurofibromatosis type 1, fragile X syndrome, benign enlargement of the subarachnoid space.
what are the rarer causes of enlarged head with a normal brain on MRI?
PTEN/ cowden/ proteus like syndrome costello syndrome sanfillipo syndrome glutamic acuduria type 1 langerhans cell histiocytosis peutz jeghers syndrome sotos syndrome
what are the causes of macrocephaly with abnormal brain
hydrocephalus
canavans disease
vanishing white matter syndrome
what is benign enlargement of the subarachnoid space?
enlargement of the subarachnoid space of cranial US, if normal Neuro and developmental exam then just need 6 monthly follow-up to make sure the head circumference is tracking correctly.
what should you do to for urgent OFC with associated features of raised ICP?
ED
what should you do with OFC that has crossed over 1 centile line without developmental delay
peads OPD
macrocephaly with syndromic features
referral to PEADS or genetics
macrocephaly with developmental delay
PEADS for MRI brain
what is the definition for microcephaly
this occurs when the OFC is greater than 2 SD smaller than the average head size and sex
what is the congenital microcephaly?
this is small head size present at birth
what is secondary microcephaly
this is normal OFC at birth with failure of normal head growth post natally.
what are the signs of congenital cytomegalovirus?
microcephaly, cataracts, petechial rash, hepatosplenomegaly
what are features of fetal alcohol syndrome
short palpebral fissures, smooth philtre, and and thin upper lip
what are the causes of microcephaly?
craniosynostosis
familial
genetic (trisomy 13, monogenic disorder, cri du chat)
metabolic (aminoacidurias, organic acidurias, urea acid disorder)
prenatal (congenital infections (TORCH, zika), PKU alcohol syndrome
prenatal brain injury (birth hypoxia)
postnatal brain injury (IVH/infarct)
small head babies when should you order a scan?
head size very small greater than 3 SD below mean
head size not keeping with familial size
developmental delay
microcephaly is post natal onset
when would you do CT over MRI in children with small head?
craniosynostosis, TORCH, Zika virus infections
what should you do with a child that has small head and you suspect an underlying congenital infections
Zika virus (serum and urine for Zika virus RNA, serum for Zika IgM) TORCH (toxplasmosis, syphilis, rubella, CMV, herpes simplex virus)
which of the TORCH infections are associated with microcephaly?
toxoplasmosis, CMV, HSV
what to do with microcephaly with delayed development?
order metabolic studies aminoacidurias, organic acidurias, and or very long chain fatty acids.
isolated or primary microcephaly (greater than 3 SD below the mean) or microcephaly with associated syndromic or dysmorphic features
order genetic testing
what is plagiocephaly?
parallelogram skull.
what is posterior deformational plagiocephaly cause by?
infants position in utero, and sleeping position.
what is the treatment for deformational plagiocephaly
PT, and tummy time.
what is craniosynostosis?
this is a birth defect in which the bones in a baby skull join together too early.
what is the weber part of the hearing test?
there is a web on top of your head… you put the fork on the top of the head.
equal= normal
senorineural: sound louder on the good side
conductive: louder on the bad side
what is the rinne test
this compares bone conduction with air conduction.
tuning fork is places on the mastoid bone.
normal/ sensorineural: air greater than bone
conduction hearing loss: bone is louder than air conduction
what are risk factors for vision problems
prematurity low birth weight downs syndrome marfan syndrome juvenile arthritis diabetes retinopathy history of ocular injury family history of visual problems cataract, squint, medical conditions kwon to be associated with visual problems
what vision checks do a newborn need
red eye reflex