Neurology and Community Flashcards
developmental warning signs at any age?
regression in previously acquired skills
maternal concern
developmental warning signs at 6 mnths?
little interest in people, toys, noises
hand preference
persistent squint
persistent primitive reflexes
in clinically evaluating the development of a child, up till when should correction for prematurity be made?
2 years
what is maturational delay?
isolated delay in learning to talk
when is walking considered to be delayed?
if not achieved by 18 months
if a child presents with delayed walking, what features would help you differentiate between cerebral palsy and muscular dystrophy as possible aetiologies?
cerebral palsy: developmental delay in other areas e.g. fine motor skills, social skills and language, which are normal in muscular dystrophy, and which have likely been identified before child starts walking in CP if severe disease.
o/e: child has hypertonia and hypereflexia in affected limb, whereas in muscular dystrophy, pt later on has large but weak calf muscles and weakness of hip girdle muscles.
what does microcephaly at birth suggest?
fetal alcohol syndrome
intrauterine infection
genetic disorder
if develops within 1st yr of life in assoc. with developmental delay then neurodegenerative disorder or perinatal cause should be suspected.
what investigations should be performed in ALL children with global developmental delay-delay in acquiring all developmental milestones including fine motor skills, social skills and language?*
TFTs
chromosomal analysis
metabolic function or brain imaging may be indicated in some.
what does regression of skills suggest?
a neurodegenerative disorder
types of cerebral palsy?
spastic=commonest (90%), there is damage to cerebral motor cortex or its connections-pyramidal or corticospinal tract pathway. types=spastic hemiplegia, diplegia-legs affected to much greater degree than arms and quadriplegia. spastic tone velocity dependent. note may be initial hypotonia.
dystonic/dyskinetic* (athetoid)=basal ganglia damage, there are irregular and involuntary movements.
ataxic cerebral palsy=rare,cerebellar damage, characterised by hypotonia, incoordination and intention tremor. usually genetically determined.
mixed e.g. spastic-athetoid, ataxic-spastic
give 5 main aims of managing patient with cerebral palsy?
minimise effects of spasticity and contracture development-regular physio-professional must give advice on correct way to hold pt during daily activities e.g. feeding, dressing, carrying, to limit effects of abnormal muscle tone. also exercises taught to stop deforming contractures developing, and can provide aids e.g. walking frames.
identify and manage any assoc. problems e.g. learning difficulties, epilepsy, visual impairment and squint, hearing loss, feeding difficulties-poor feeding and nutrition occur secondary to pseudobulbar palsy, resp problems e.g. aspiration pneumonia, constipation-poor oral intake and mobility.
ensure child provided with appropriate support for their special educational needs.
ensure adequate support for family e.g. financial, practical and emotional.
try to maximize child’s integration into society.
MDT input best provided by a child development team, includes physio, OT, speech therapy, nutrition, orthopaedic-hip dislocation and scoliosis repair, tendon lenghthening or transfer, osteotomy to realign a limb.
if spasticity severe and causing pain may sometimes prescribe drug to reduce muscle spasm-baclofen-PO or intrathecal cannula and pump
aetiology of cerebral palsy?
damage to immature brain, definitely up to postnatal period and may be up to 3 yrs
cause often thought to be due to disrupted blood flow in brain areas poorly served by cerebral circulation
how is severity of gross motor impairment in cerebral palsy quantified?
using the Gross Motor Function classification system
helps with initial assessment and monitoring response to therapy
=levels 1-5
1:walks without limitations
2:walks with limitations
3:walks using a handheld mobility device
4:self-mobility with limitations;may use powered mobility
5:transported in manual wheelchair
RFs for cerebral palsy?
maternal age more than 35 years
black ethnicity
intrauterine growth restriction
higher incidence in premature infants and twin births
define cerebral palsy
abnormality of movement and posture causing activity limitation attributed to non-progressive but permanent disturbances that occurred in the developing fetal or infant brain.
usually presents in infancy with abnormal tone and posture, delayed motor milestones and feeding difficulty.
prenatal causes of cerebral palsy?
differentiate between causes during 1st, 2nd and 3rd trimesters of pregnancy*
cerebral malformations
intrauterine TORCH infection-toxoplasma, other (e.g. syphilis), rubella, CMV, herpes-simplex or VSV, or HIV
placental insufficiency
fetal coagulation and AI disorders
cerebrovasc accidents
chromosomal anomalies
what may be the presenting features of cerebral palsy in relation to delayed motor milestone of independent standing or walking?
holds arm or both arms stiffly and bent excessive tiptoe gait-due to excessive lower limb motor tone* sits with weight to 1 side uses predominantly 1 hand for play 1 leg may be stiff
what may persist in children with cerebral palsy, which normally facilitate normal patterns of movement to develop but need to disappear for motor development to progress?
primitive reflexes*
describe features of spastic hemiplegia presentation of cerebral palsy?
unilateral arm and leg involvement, arm often more severely
pres. often 4-12mnths of age, with affected hand fisting
flexed arm
pronated forearm
asymmetric reaching or hand function
tiptoe walk subsequently
what might visual field testing reveal in a patient with spastic hemiplegia type cerebral palsy and why?
a hemianopia (?homonymous) as may occur with strokes which in neonatal period may be the cause of cerebral palsy.
presenting features of spastic quadriplegia in cerebral palsy?
opisothonus (trunk extensor posturing)
low central tone
poor head control
more severe type, often assoc. with seizures, microcephaly, and moderate or severe intellectual impairment.
what form of cerebral palsy is assoc. with preterm birth due to periventricular brain damage?
spastic diplegia
commonest cause of dyskinetic cerebral palsy?
hypoxic-ischaemic encephalopathy at term-compromised pulmonary or placental GE, or ceases altogether, causing CR depression, there is subsequent CO compromise diminishing tissue perfusion causing hypoxic-ischaemic injury to brain and other organs e.g. kidneys. subsequent pt survival with normal neurological function more likely in moderate and severe encephalopathy if mild hypothermia.
in the past was kernicterus (hyperbilirubinaemia) due to rhesus disease of the newborn
presenting features of dyskinetic cerebal palsy?
chorea, athetosis or dystonia-sudden contraction of a group of muscles causing an abnormal posture floppiness poor trunk control delayed motor development may be relatively unimpaired intellect
define a seizure
sudden change in behaviour, may involve jerky movements and/or changes in sensory perception.
what are febrile convulsions?
these refer to a seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis.
genetic predisposition-10% risk in child with affected 1st degree relative
seizure usually early in infection where temperature rising rapidly, note pt may not actually have raised temperature before seizure onset
generalised tonic-clonic seizures-onset in both hemispheres, initial rigid tonic phase where child may fall to ground, don’t breathe, then clonic-limb jerking, with irregular breathing and saliva may accumulate in mouth, few s to few mins.
RFs for recurrent febrile convulsions?
the younger the child
the shorter the duration of illness before seizure
the lower the temp at time of seizure
+ve FH
what is the association between febrile seizures and epilepsy?
risk of developing epilepsy in simple febrile seizures is similar to risk of other children BUT increased risk of 4-12% of subsequent epilepsy in those with complex febrile seizures-focal, prolonged, rpted in same illness.
management of patients with febrile convulsions AFTER seizure?
reassurance and education of parents: febrile seizures are NOT same as epilepsy, if simple then similar risk of epilepsy development as children without febrile convulsions, if short lasting then NOT harmful to the child. risk of recurrence-about 1/3, but more likely if younger child, shorter illness duration before seizure, FH, lower temp at time of seizure.
advice to parents about what to do should another seizure occur:
-protect them from injury
-do not restrain or put anything in mouth
-check airway, place in recovery after seizure stopped, advise may be sleepy for up to 1hr
-call ambulance if seizure lasts longer than 5 mins.
when and how to seek urgent medical advice - any seizure, serious symptoms such as non-blanching rash, lack of normal alertness, dehydration, the child getting worse, the parent worried and fever for more than 5 days.
advice on paracetamol and ibuprofen use for fever management, but inform doesn’t prevent convulsions.
when to r/f child urgently to hospital with febrile convulsions?
1st febrile seizure
serious illness not excluded e.g. MENINGITIS-may require infection screen with blood culture, urine culture and LP, if child unconscious or CVS unstable, start Abx immediately as LP contraindicated
previous history of febrile seizure with:
child under 18 mnths (meningitis is harder to detect in this age group)
diagnostic uncertainty about the cause of the present seizure
complex seizure (focal, prolonged or rpted in same illness)-more likely to recur or be due to intracranial infection compared with simple seizures
Abx currently/recently (mask signs of meningitis).
early r/v by a doctor not possible.
home circumstances unsuitable.
Also, consider referral if no focus of infection is found (for a period of observation and to investigate for UTI).
rescue therapy that can be given to parents for children with a hx of prolonged seizures (more than 5min) during febrile convulsions?
rectal diazepam or buccal midazolam
what are muscular dystrophies?
inherited disorders with muscle degeneration-muscle wasting and weakness, often progressive.
classified as a type of neuromuscular disorder (peripheral motor disorders).
what is spinal muscular atrophy?
autosomal recessive degeneration of anterior horn cells, causing progressive muscle weakness and wasting of skeletal muscles, result of mutations in survival motor neurone (SMN) gene.
2nd most common cause of neuromuscular disease in UK after duchenne muscular dystrophy.
different phenotypes-type 1-children can never sit unaided, 2-can sit but never walk independently, 3-do walk and can present later in life (Kugelberg-Welander).
examples of causes of neuromuscular (peripheral motor) disorders?
disorders of anterior horn cell: spinal muscular atrophy poliomyelitis disorders of peripheral nerve: hereditary motor sensory neuropathies acute post-infectious polyneuropathy (GB syndrome) Bell palsy disorders of NM transmission: MG muscle disorders: muscular dystophies-Duchenne/becker/congenital inflammatory myopathies- benign acute myositis dermatomyositis/polymyositis myotonic disorders- dystrophia myotonica metabolic myopathies congenital myopathies
key clinical feature of a neuromuscular disorder?
weakness
what is spinal muscular atrophy type 1 (werdnig-hoffmann disease)?
this is a certain phenotype of spinal muscular atrophy-a type of neuromuscular disorder in which there is degeneration of anterior horn cells.
very severe progressive disorder presenting in early infancy
in pregnancy, diminished fetal movements often noticed, and at birth may be arthrogryposis-positional deformities of limbs with contractures of at least 2 joints.
signs:
lack of antigravity power in hip flexors
absent tendon reflexes
intercostal recession
tongue fasciculation
can never sit unaided (normally achieved by 6-9mnths)
prognosis in spinal muscular atrophy type 1?
very poor
death from resp failure within about 1 yr
but milder forms exist with later onset
most common subtype of cerebral palsy?
spastic diplegia
spasticity classically devlops between 6 and 18mnths
perinatal causes of cerebral palsy?
prematurity e.g. periventricular leukomalacia-necrosis of white mater around the ventricles
hypoxia-hypoxic ischaemic encephalopathy
?asphyxia in neonatal period-CSF protein, lactate and kernicterus-result of unconjugated hyperbilirubinaemia
hypoglycaemia
postnatal causes of cerebral palsy?
cerebrovasc accident
trauma
IC infections
what might a CT/MRI scan show of a patient with previous TORCH infection?
intracranial calcification
why are cerebal palsy patients at risk of regular aspiration pneumonia?
poor swallow mechanism, unable to safely protect their airway
