neurodevelopmental disorders Flashcards
sporadic
among scattered cases
monogenetic
related to 1 gene
oligogenegic
related to several genes
polygenetic
related to many genes
idiopathic
a disease in and of itself
pedigree
a family tree
kindred
a family
perinatal
around birth
congenital
existing from birth
hereditary
running in a family
epigenetic
non-sequence effects on DNA
neural tube in adulthood
- outgrown by skeleton, cord ends at L1
- preserved as central grey of cord and peri aqueduct as grey of midbrain
- most elaborated in the hemispheres
features of neurofibromatosis type 1
- ectoderm effects (dermatology, neurofibromata, café-au-lait spots, axillary freckling)
- neural tube effects (glial cell tumours can lead to learning disability)
- neural crest effects (shwannomas, adrenal medullary tumours)
spina bifida occulta
- least serious and most common
- usually is covered only on x-rays
- most people never become aware of condition
meningocele (spina bifida)
- meninges pass back through the opening in the spine to form a cyst-like swelling
myelomeningocele (spina bifida)
-spinal cord is enclosed in the cyst
- most serious type
clinical issues of spina bifida
- loss of neural function (parapalegia/paraparesis)
- structural effects (hydrocephalus, CNS infection)
effects of lost neural function
- limb deformity
- risk of urine infection
- complications of hydrocephalus
- complications of immobility
- obstetric complications
effects on/of the skull
- brain and cranial development interlinked
- normally growing brains cause head to grow
- relatively mild abnormalities of the skull base (chiari malformation) may cause altered flow of CSF
chiari malformation
structural defect in the cerebellum characterised by a downward displacement of the cerebellum through the foremen magnum
what could go wrong in utero/being born?
- hypoxia (hypoxia ischaemic encephalopathy)
- physical injury
- infection (e.g. rubella)
- toxins (including ‘teratogenic’ drugs)
missed milestones requiring intervention at 2 months
- lack of visual fixation
- no social smile
missed milestones requiring intervention at 4-6 months
- fails to track person or object
- no steady head control
- no response/turn to sound or voice
missed milestones requiring intervention at 6 months
decease/absence of vocalizations
missed milestones requiring intervention at 9-12 months
- fails to sit independently
missed milestones requiring intervention at 18 months
- fails to walk independently
- does not seek shared attention to object/event with caregiver
missed milestones requiring intervention at 24 months
- no single words
missed milestones requiring intervention at 36 months
- no three word sentences
- cannot follow simple commands
missed milestones requiring intervention > 3 years
- speech unintelligible
- dependence on gestures to follow commands
cerebral palsy
group of permanent disorders of the development of movement
what may cerebral palsy affect
- posture
- limb movement
- speech
strabismus
medical squinting
syndromic strabismus
additional features, several known genes
duane’s syndrome
- CNVI doesn’t develop (abducen’s)
- rare form of strabismus where there is an inability of the eye to move outward
