Neurology and Community

Question 1

developmental warning signs at any age?

Answer 1

regression in previously acquired skills

maternal concern

Question 2

developmental warning signs at 6 mnths?

Answer 2

little interest in people, toys, noises
hand preference
persistent squint
persistent primitive reflexes

Question 3

in clinically evaluating the development of a child, up till when should correction for prematurity be made?

Answer 3

2 years

Question 4

what is maturational delay?

Answer 4

isolated delay in learning to talk

Question 5

when is walking considered to be delayed?

Answer 5

if not achieved by 18 months

Question 6

if a child presents with delayed walking, what features would help you differentiate between cerebral palsy and muscular dystrophy as possible aetiologies?

Answer 6

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.

Question 7

what does microcephaly at birth suggest?

Answer 7

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.

Question 8

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?*

Answer 8

TFTs
chromosomal analysis
metabolic function or brain imaging may be indicated in some.

Question 9

what does regression of skills suggest?

Answer 9

a neurodegenerative disorder

Question 10

types of cerebral palsy?

Answer 10

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

Question 11

give 5 main aims of managing patient with cerebral palsy?

Answer 11

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

Question 12

aetiology of cerebral palsy?

Answer 12

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

Question 13

how is severity of gross motor impairment in cerebral palsy quantified?

Answer 13

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

Question 14

RFs for cerebral palsy?

Answer 14

maternal age more than 35 years
black ethnicity
intrauterine growth restriction

higher incidence in premature infants and twin births

Question 15

define cerebral palsy

Answer 15

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.

Question 16

prenatal causes of cerebral palsy?

Answer 16

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

Question 17

what may be the presenting features of cerebral palsy in relation to delayed motor milestone of independent standing or walking?

Answer 17

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

Question 18

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?

Answer 18

primitive reflexes*

Question 19

describe features of spastic hemiplegia presentation of cerebral palsy?

Answer 19

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

Question 20

what might visual field testing reveal in a patient with spastic hemiplegia type cerebral palsy and why?

Answer 20

a hemianopia (?homonymous)
as may occur with strokes which in neonatal period may be the cause of cerebral palsy.

Question 21

presenting features of spastic quadriplegia in cerebral palsy?

Answer 21

opisothonus (trunk extensor posturing)
low central tone
poor head control

more severe type, often assoc. with seizures, microcephaly, and moderate or severe intellectual impairment.

Question 22

what form of cerebral palsy is assoc. with preterm birth due to periventricular brain damage?

Answer 22

spastic diplegia

Question 23

commonest cause of dyskinetic cerebral palsy?

Answer 23

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

Question 24

presenting features of dyskinetic cerebal palsy?

Answer 24

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

Question 25

define a seizure

Answer 25

sudden change in behaviour, may involve jerky movements and/or changes in sensory perception.

Question 26

what are febrile convulsions?

Answer 26

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.

Question 27

RFs for recurrent febrile convulsions?

Answer 27

the younger the child the shorter the duration of illness before seizure the lower the temp at time of seizure +ve FH

Question 28

what is the association between febrile seizures and epilepsy?

Answer 28

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.

Question 29

management of patients with febrile convulsions AFTER seizure?

Answer 29

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.

Question 30

when to r/f child urgently to hospital with febrile convulsions?

Answer 30

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).

Question 31

rescue therapy that can be given to parents for children with a hx of prolonged seizures (more than 5min) during febrile convulsions?

Answer 31

rectal diazepam or buccal midazolam

Question 32

what are muscular dystrophies?

Answer 32

inherited disorders with muscle degeneration-muscle wasting and weakness, often progressive. classified as a type of neuromuscular disorder (peripheral motor disorders).

Question 33

what is spinal muscular atrophy?

Answer 33

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).

Question 34

examples of causes of neuromuscular (peripheral motor) disorders?

Answer 34

``` 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 ```

Question 35

key clinical feature of a neuromuscular disorder?

Answer 35

weakness

Question 36

what is spinal muscular atrophy type 1 (werdnig-hoffmann disease)?

Answer 36

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)

Question 37

prognosis in spinal muscular atrophy type 1?

Answer 37

very poor death from resp failure within about 1 yr but milder forms exist with later onset

Question 38

most common subtype of cerebral palsy?

Answer 38

spastic diplegia | spasticity classically devlops between 6 and 18mnths

Question 39

perinatal causes of cerebral palsy?

Answer 39

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

Question 40

postnatal causes of cerebral palsy?

Answer 40

cerebrovasc accident trauma IC infections

Question 41

what might a CT/MRI scan show of a patient with previous TORCH infection?

Answer 41

intracranial calcification

Question 42

why are cerebal palsy patients at risk of regular aspiration pneumonia?

Answer 42

poor swallow mechanism, unable to safely protect their airway

Question 43

classical migraine features?

Answer 43

unilateral throbbing headache N+V visual disturbance-lines, dots in vision, blurring, *note opthalmological migraines different form aura-paraesthesia, anaesthesia, facial weakness, difficulty talking may be period related triggers-foods e.g. chocolate, caffeine, stress FH of migraines NORMAL BETWEEN EPISODES

Question 44

what is labelled as an acute life-threatening event?**

Answer 44

episodes in young babies of being found limp or twitching

Question 45

features on examination of a child with 'fits, faints and funny turns', that suggest an underlying metabolic problem?

Answer 45

``` significant vomiting developmental delay dysmorphism hepatosplenomegaly micro- or macrocephaly ```

Question 46

what are infantile spasms?

Answer 46

also known as West syndrome these are a severe form of myoclonic epilepsy, with a part. poor prognosis onset usually between 3 and 8mnths typical flexion spasms-jack-knife or salaam spasms, last a few s and occur in clusters lasting up to half an hr, violent flexor spasms-1-2s, of head, trunk and limbs, then arm extension (salaam spasms) often happen on waking from sleep, often multiple bursts of 20-30 may be hx of perinatal complications e.g. asphyxia or meningitis regression of developmental skills after onset, development may have been normal or delayed before onset, social interaction often deteriorates most will eventually lose skills and develop epilepsy or learning disability

Question 47

what does the EEG show in infantile spasms?

Answer 47

hypsarrhythmic (chaotic) pattern

Question 48

defining characteristics of epilepsy?

Answer 48

recurrent seizures unprovoked seizures epileptic seizures-transient disturbance of consciousness, behaviour, emotion, motor function or sensation due to abnormal electrical activity in the brain.

Question 49

types of generalised epileptic seizures?

Answer 49

``` tonic-clonic tonic absence myoclonic atonic-brief loss of tone assoc. with falls ```

Question 50

goals in managing epilepsy?

Answer 50

ensure diagnosis correct control fits minimise drug ADRs ensure any learning difficulties addressed help child live a normal life with full participation in home and school activities

Question 51

EEG features of absence seizures?

Answer 51

characteristic 3 per second spike and wave activity

Question 52

characteristic features of temporal lobe epilepsy?

Answer 52

altered or impaired consciousness, with strange sensations or semipurposeful movements e.g. chewing or sucking may be postictal phase falling does not ususally occur-assoc. with myoclonic seizures

Question 53

what types of epilepsy is an EEG characteristic for?

Answer 53

absence seizures-3 per second spike and wave activity | infantile spasms-hypsarrhythmic pattern

Question 54

what is status epilepticus?

Answer 54

a prolonged convulsion lasting 30mins or more, or a series of shorter convulsions with failure to regain consciousness between them, lasting 30mins or more. rapid tment required for prolonged convulsion, maintain airway, give O2, check blood glucose, can give rectal diazepam, if given should also give IV lorazepam.

Question 55

most common anatomical causes identified for epilepsy?

Answer 55

1/3 of epilepsy patients have an anatomically identifiable cause cerebrovascular disease cerebral tumour post-traumatic epilepsy

Question 56

what are focal seizures?

Answer 56

previously known as partial seizures usually consist of twitching of jerking of 1 side of face, an arm or leg (focal motor), may be focal sensory-strange sensation e.g. paraesthesia in 1 body part consciousness usually retained or only slightly impaired. auras can precede complex focal seizures, e.g. unexpected tastes, smells or paraesthesia.

Question 57

immediate management of pt having a seizure?

Answer 57

protecting person from injury, checking their airway, and placing them in the recovery position AFTER the seizure stops. If a tonic-clonic seizure is prolonged or recurrent, emergency buccal midazolam may be given first-line in the community according to pre-arranged protocol. emergency admission to hospital if seizures do not respond promptly to treatment.

Question 58

causes of epilepsy?

Answer 58

about 2/3 in UK with no anatomically identifiable cause='idiopathic epilepsy'=most common cause of epilepsy in younger people. underlying cause thought to be complex developmental abnormalities in synaptic connections and NT distribution and release. genetic predisposition in many about 30% of people with epilepsy have a first-degree relative with the condition. it is a feature of over 200 genetic disorders, accounting for approximately 2% of people with epilepsy. 1/3 with epilepsy in the UK have an anatomically identifiable cause, and/or clinical features indicative of an underlying disease or condition='symptomatic epilepsy' and is the most common cause of epilepsy in older people. most common=cerebrovascular disease, cerebral tumour, and post-traumatic epilepsy. Less common= perinatal brain injury caused by fetal hypoxia or trauma; cortical or vascular malformation; cerebral abscess or tuberculoma; and surgery to the brain.

Question 59

RFs causing predisposition to epilepsy?

Answer 59

FH genetic condition with known association e.g. childhood epilepsy syndromes, or neurocutaneous syndromes such as tuberous sclerosis or neurofibromatosis. previous febrile seizures in childhood espec. if complicated febrile convulsions-focal, prolonged, rptd in same illness. previous intracranial infections, brain trauma (especially a penetrating brain injury), or surgery. Comorbid conditions such as cerebrovascular disease or cerebral tumours

Question 60

epilepsy complications?

Answer 60

death: SUDEP-dies suddenly without identifiable cause, more at risk if greater frequency and severity of seizures accidents 'epilepsy and status epilepticus' depression and anxiety poor school performance behavioural difficulties injuries

Question 61

when can discontinuation of epilepsy tment be considered?

Answer 61

if child been free of fits for 2 yrs | discontinue gradually! *risk of WD seizures

Question 62

features of ataxia telangiectasia?

Answer 62

usually presents by 2yrs of age with progressive cerebellar ataxia: DANISH-coordination problems-dysdiadochokinesis, ataxia-lack of voluntary coordination of muscle movements e.g. unbalanced gait, nystagmus, intention tremor, scanning dysarthria, heel-shin test positivity. lack of facial expression tendency to drool slow slurred speech recurrent infections part. sinus and resp as lack IgA telangiectasias from age of 3-conjunctivae, pinnae, face, sternum and flexures. death due to Ca and resp failure

Question 63

what is ataxia-telangiectasia?

Answer 63

rare autosomal recessive disorder characterised by: progressive neurodegeneration high malignancy risk e.g. lymphomas and acute lymphoblastic leukaemia in 1st 2 decades, and breast Ca in women immunodeficiency hypersensitivity to ionising radiation chromosomal breakage classical form=2 mutated A-T genes on chromosome 11 causing total loss of ATM protein (a protein kinase) important for repairing DNA damage.

Question 64

investigations in ataxia-telangiectasia?

Answer 64

serum alpha fetoprotein-raised in 90% genetic testing for ATM genes and absence of ATM protein in nuclear extracts in vitro radiosensitivity testing

Question 65

ataxia-telangiectasia management?

Answer 65

no cure neuro symps problematic, basal ganglia dysfunction tment with L-DOPA derivatives, dopamine antagonists and anticholinergics. loss of balance, and speech and co-ordination problems may be improved with amantadine, fluoxetine and buspirone. tremors-gabapentin, clonazepam and propranolol prompt treatment of infections, may use Abx prophylacis. regular injection of Igs. screening for swallow-related problems and aspiration, consider use of thickeners and enteral feeding. regular malignancy screening with FBC and tumour markers MDT- input of physiotherapy, speech and occupational therapists is particularly important. High-dose vitamin regimes, folic acid and alpha lipoic acid-?anti-cancer avoid X-rays unless treatment dependent on them and alternatives e.g. MRI or US not available.

Question 66

what are psychogenic non-epileptic seizures?

Answer 66

prev known as hysterical seizures physical manifestation of a psychological disturbance-may have hx of physical or sexual abuse, divorce, sudden life change, no abnormal brain electrical activity gradual onset, asynchronous flailing movements, no incontinence or postictal state e.g. drowsiness, or bodily injury unusual aura often emotional stimulus precipitates event abrupt change of epsiode in response to a stimulus not infrequently occur in children with genuine epileptic condition EEG normal

Question 67

management of psychogenic non-epileptic seizures?*

Answer 67

often require r/f to psychiatrist, need a full psychological assessment

Question 68

management of infantile spasms?*

Answer 68

vigabatrin-enzyme inhibitor stopping breakdown of GABA, or corticosteroids

Question 69

specific drug management of epilepsy?*

Answer 69

**

Question 70

differential diagnosis of a toddler who is crying, then turns blue with limbs going into extension?

Answer 70

breath holding attack: child cries because of pain or temper, then takes a deep breath and stops breathing, becomes cyanotic and extends limbs may be brief LOC, and occasionally convulsive jerks of extremities child then becomes limp, resumes respirations and returns to full alertness after a few s note CRYING, BREATH HOLDING THEN NO POST ICTAL PHASE. provide reassurance to parents and may need behaviour modification therapy with distraction

Question 71

prognosis of cyanotic breath holding spells?

Answer 71

always benign disappear before school age higher incidence of vasovagal attacks later in life

Question 72

presentation of reflex anoxic seizures?

Answer 72

trigger e.g. pain or discomfort like minor head trauma, cold food, fright or fever infant or toddler may or may not start to cry, but then turns pales and collapses due to vagal reflex overactivity causing transient bradycardia and circulatory impairment transient apnoea and limpness may be generalised tonic-clonic seizure due to hypoxia, breif seziure adn child rapidly recovers with no post ictal phase EEG normal just need to reassure attacks disappear spontaneously before school age

Question 73

causes of non-epileptic seziures?

Answer 73

``` psychogenic febrile meningitis or encephalitis metabolic: hypoglycaemia, hypocalcaemia, hypomagnesaemia, hypo/hyper natraemia head trauma poisons/toxins ```

Question 74

define myoclonus

Answer 74

rapid muscle jerks that are frequently repetitive and cause significant disability

Question 75

what is benign sleep myoclonus?

Answer 75

``` this is common in 1st year of life rapid jerking movements of body occurring only in sleep child otherwise well no change in colour or SpO2 no specific tment needed ```

Question 76

cause of child waking from sleep confused, frightened and not recognising parents?

Answer 76

night terrors- child wakes from sleep confused, disorientated, frightened and does not recognise parents. may be signs of ANS activity-dilated pupils, sweating, tachypnoea, tachycardia. child may take few mins to become orientated, and does not remember event require simple reassurance benign, and usually self-limited

Question 77

**investigations and assessment to consider in child with developmental delay?

Answer 77

``` cytogenetic metabolic infection imaging neurophysiology histopathology/histochem other ```

Question 78

what are the 3 central movement control centres?

Answer 78

motor cortex-info travels down corticospinal (pyramidal) tracts to link with basal ganglia. Disorder-weaknesss with shoulder adduction, elbow flexion, forearm pronation, IR and adduction of hip-*leg scissoring, hip and knee flexion, ankle PF, hypereflexia, extensor plantars, loss of fine finger movement. basal ganglia-store movement patterns cerebellum-important for movement. dysfunction=difficulty initiating movement-dystonia, or dyskinesia-chorea or athetosis-writhing. cerebellum-movement execution in relation to feedback on joint position. disorder=wide based gait, scanning dysarthria, dysmetria, dysdiadochokinesis, nystagmus.

Question 79

causes of corticospinal disorders?

Answer 79

``` cerebral dysgenesis e.g. neuronal migration problem global hypoxia-ischaemia arterial ischaemic stroke cerebral tumour acute disseminated encephalomyelitis post-ictal paresis hemiplegic migraine ```

Question 80

examples of disorders of the peripheral nerves?

Answer 80

hereditary motor sensory neuropathies acute post-infectious polyneuropathy (GB syndrome) bell palsy and facial nerve palsies

Question 81

presentation of guillain-barre syndrome-acute post-infectious polyneuropathy?

Answer 81

usually 2-3wks post URTI or campylobacter gastroenteritis may be fleeting abnormal sensory symptoms in legs ascending symmetrical weakness with loss of reflexes, and AN involvement difficulty chewing, dysphagia and aspiration risk with involvement of bulbar muscles resp depression-may need mechanical ventilation full recovery can take up to 2 years distal limb sensory symptoms

Question 82

results of investigations in guillain-barre syndrome?

Answer 82

CSF protein markedly raised, but may not be seen until 2nd wk of illness, WCC NOT RAISED reduced nerve conduction velocities

Question 83

guillain-barre syndrome management?

Answer 83

mainly supportive may reduce ventilator dependent time with Ig infusion plasma exchange ?effect of corticosteroids

Question 84

Differentials for global developmental delay?

Answer 84

Infective: perinatal injury and infection Meningitis Trauma Metabolic: congenital hypothyroidism Idiopathic severe learning disability Genetic: downs, other dysmorphic and chromosomal abnormalities e.g. Fragile X Fetal alcohol syndrome Abuse and neglect CNS malformations Neurodegenerative Neurocutaneous e.g. Sturge-weber syndrome, Neurofibromatosis, tuberous sclerosis**

Question 85

causes of speech and language difficulties?

Answer 85

``` developmental: maturational delay (often familial)-isolated delay in learning to talk environmental deprivation and neglect learning disabilities (mental retardation)-delay in fine motor skills and social skills also usually present. ``` deafness speech (or articulation) difficulties: stammer cleft lip and palate communication difficulties: autism language disorder

Question 86

Duchenne muscular dystrophy (DMD) is inherited in what pattern?

Answer 86

X-linked recessive

Question 87

aetiology of DMD?

Answer 87

deletion (mainly) mutations in dystophin gene, causing protein absence, causing progressive muscle degeneration

Question 88

presentation of DMD?

Answer 88

all patients have symptoms by 3years of age but diagnosis often delayed, progressive proximal muscular dystrophy: delayed motor milestones inability to run, waddling gait when try Toe walking gower's sign-climbing up the body using hands when rising from the floor calf muscle pseudohypertrophy-enlarged but due to fat deposition due to muscle wasting, deltoid, tongue, masseters and quads may also be enlarged also speech delay or global developmental delay failure to thrive fatigue abnormal LFTs-raised AST or ALT anaesthesia complications e.g. rhabdomyolysis, malignant hyperthermia, myoglobinuria

Question 89

important features to assess in young boy for DMD?

Answer 89

watch child running and rising from the floor

Question 90

how are patients with suspected DMD investigated?

Answer 90

serum CK initially: 10-100 X normal from birth in DMD, if normal at presentation then rules out DMD, but CK levels drop later in disease due to muscle wasting precise diagnosis is best achieved with combination of genetic analysis, muscle biopsy-with assay for dystrophin protein, and clinical observation of muscle strength and function MUST do genetic testing if muscle biopsy +ve

Question 91

indications of a carrier of DMD?

Answer 91

CK levels usually high | usually identified by genetic analysis

Question 92

differentials in DMD presentation?

Answer 92

Becker's muscular dystophy other myopathies polymyositis spinal muscular atrophy, MND, MS

Question 93

when does independent mobility tend to be lost in DMD?

Answer 93

around 8-11 yrs of age

Question 94

How can origin of congenital hypotonia be divided?

Answer 94

CNS-most common, often assoc. microcephaly Peripheral e.g. Spinal muscular atrophy, also often joint contractures NMJ e.g. Congenital myasthenia Muscle e.g. Muscular dystrophies

Question 95

What would we like to examine in a baby with hypotonia?

Answer 95

``` Head circumference-microcephaly assoc. with CNS causes Developmental assessment Muscle tone Reflexes Pulling to sit Posture in prone and supine positions Antigravity movements Visual following and alertness ```

Question 96

what 1 investigation would you like to do in a child with specific language delay?

Answer 96

hearing test

Question 97

what is holoprosencephaly?

Answer 97

failure of prosencephalon to develop into 2 hemispheres so brain structure is single lobed and there are severe facial and skull defects.

Question 98

investigations for suspected NAI?

Answer 98

blood tests including full clotting profile skeletal survey to look for fractures paediatric ophthalmoscopy to llok for retinal haemorrhages-sign of head trauma CT head

Question 99

why is facial bruising in a baby under 6 months of concern?

Answer 99

worry about child abuse as baby immobile so no mechanism of causing this injury to themselves.

Question 100

give 6 specific steps you would take as a doctor on call seeing a pt you suspect has NAI?

Answer 100

inform a senior take a brief history, don't ask leading questions full examination, check all body back and front document findings clearly-hx, examination, body chart diagram showing location of injuries, include my name, date and time, and signature. contact social services by phone admit child, pending on advice from social services arrange tests-bloods including clotting, CT head, ophthalmoscopy and skeletal survey

Question 101

lead agency dealing with child protection?

Answer 101

social services

Question 102

features of tuberous sclerosis?

Answer 102

hamartomas-benign disorganised growth of tissues throughout the body, (hardened swellings) mainly affecting skin,brain and kidneys, but eyes, heart and lungs also often involved. epilepsy (growth between white and grey mater, cortical tubers) and neurological problems skin and teeth-facial angiofibromas, hypomelanotic macules, shagreen patch (irrregular area of thickened skin-CT naevi) renal angiomyolipomas cardiac rhabdomyomas learning difficulties, autism, ADHD

Question 103

causes of microcephaly?

Answer 103

microcephaly=head circumference below 2nd centile causes: familial-present from birth, development often normal an autosomal recessive condition-will be assoc. with developmental delay due to a congenital infection acquired after insult to developing brain e.g. perinatal hypoxia, hypoglycaemia or meningitis, often accompanied by seizures and cerebral palsy.

Question 104

causes of macrocephaly?

Answer 104

macrocephaly=head circumference above 98th centile causes: familial macrocephaly tall stature raised ICP-if head circumference enlarging and crossing centile lines must check for raised ICP with intracranial USS if anterior fontanelle still open, or CT/MRI. hydrocephalus chronic SD haematoma cerebral tumour neurofibromatosis cerebral gigantism (sotos syndrome) CNS storage disorders e.g. mucopolysaccharidosis (Hurler syndrome)

Question 105

what name is given to the premature fusion of cranial sutures which can distort head shape?

Answer 105

craniosynostosis: usually localised most often affects sagittal suture, causing a long narrow skull if lamboid fusion, must distinguish from plagiocephaly-asymmetric flattening of 1 side of skull from positional moulding may feel or see fused suture as a palpable ridge can treat surgically if raised ICP or for cosmetic reasons