W07 - PAEDS: Neurology; Special Needs; Genetics Flashcards
Developmental Hx
Motor milestone: gross & fine motor
Speech and language dev.
Early cognitive development
Play & Social behaviour
Self-help skills
Vision & Hearing
Common neuro consultations
- migraine
- brain injury
- tourette syndrome
- epilepsy
- brain tumours
Headaches in Children
- parents commonly looking for reassurance it’s nothing sinister
isolated acute
recurrent acute
chronic progressive
chronic non-prog.
- OFC, BP, growth
- sinuses, teeth, visual acuity, fundoscopy, cranial bruit
- focal signs
+TENSION HEADACHE: diffuse symmetrical band, constant
+ Analgesia overuse
Childhood migraine
- abdo pain, N&V
- focal symptoms: vis., paresthesia, weakness
- pallow
- photophobic, noise
- fatigue, stress
?FHx
Red flags for paeds headache
- WORSENS WITH COUGHING, STRAINING, BENDING = ICP
+ morniing headache vom.
When to neuroimage
- cerebellar dysfunction
- ICP
- New focal deficit e.g squint
- Seizures
- personality change
- unexplained deterioration
Mgmt of Chiildhood Headaches
Migraine
> Triptans
> Pain relief
> Preventative
- pizotifen
- proranolol
- amitryptyline
- topiramate
- valporate
TTH
> analgesia (CI in chronic TTH)
> preventative: amitryptilline
Seizure mimics in Children (Paroxysmal Non-Epileptic Events)
Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy.
- insults
- hypoxic: anoxic seizure (toddlers)
- syncope
- parasomnias: night terror
- pyschogenic non-epileptic seizures
Seizures in Children
1) FEBRILE CONVULSION
* fever w/o evidence of intracranial infection or defined cause for seizure
* common
2) Stiff = Tonic seizure
3) Fall = Atonic/tonic/myoclonic
4) Vacant = absence, complex partial seizure
5) Jerk/Shake = clonic, myoclonic, spasms
Mechanisms of epileptic fit
Decreased inhibition (gama-amino-butyric acid, GABA)
Excessive excitation (glutamate and aspartate)
Excessive influx of Na and Ca ions
= partial
OR
= generalised (common in children)
Investigating seizures/fits in children and mgmt
- clinical dx
- ECG
- EEG
- MRI brain
- genetics? metabolic tests?
anti epileptic drugs: only if clear dx of electrical event
>1) sodium val: CI: girls / Levetiracetam for GENERALISED
> 1) CARBAMEZEPINE for FOCAL
>
- lamotrigine
>
- steroids, immunoglobulins, ketogenic diet
> VNS: If resective epilepsy surgery is not suitable for a person with drug-resistant seizures, consider vagus nerve stimulation as an add-on treatment to antiseizure medication.
What is the last fontanelle to close?
Anterior fontanelle between 1-3yo
- posterior fontanelle closes first
Microcephaly and Macrocephaly
Utilising OFC
OFC <2 = mild micro
OFC <3 = mod/severe
OFC >2SD
Head shape problem types
PLAGIOCEPHALY = flat head
BRACHYCEPHALY = short head or flat at back
SCAPHOCEPHALY = boat shaped skull
Craniosynostosis = fusion too early
Neuromuscular Disorder Signs
- floppy from birth
- slips from hands
- paucity of limb movements
- alert but less motor activity
- delayed motor milestones
- walks but falls frequently
Duchenne Muscular Dystrophy
XP21, Males, delayed motor. skills
- symm. proximal weakness: waddling gait, calf hypertrophy,
- GOWER’S POSITIVE: needs thighs to push up to stand up
- high creatinine kinase levels
+ cardio, resp involvement
Neuropathy Vs Myopathy
Neuro: DISTAL WEAKN
+ sensory deficit, reflex loss, fasciculations
Myopathy: PROXIMAL WEAKN.
+ contractures, cardiomyopathy
Definition and assessment of development delay
a
Primary and secondary care assessment tools for developmental delays
ASQ (ages and stages questionnaire)
PEDS (Parents evaluation of developmental status)
M-CHAT (Checklist for autism in toddlers)
SOGS-2 (Schedule of Growing Skills)
0-5yo, derives separate cognitive score
2º
Griffiths mental development scales
Bayley scales of infant development
Wechsler preschool and primary scales of intelligence
Quantifying Developmental abilities
DELAY: global vs isolated
DISORDER
REGRESSION
Sceening in common syndromes
- vision disorders
- hearing impairment
- cardiac (congenital heart disease in trisomy21)
Flags for Developmental Delay
(+)
Loss of developmental skills
Concerns re vision
Concerns re hearing
Floppiness
No speech by 18-24 months
Asymmetry of movement
Persistent toe walking
Head circumference >99.6th C or < 0.4th C
(-)
Sit unsupported by 12 months
Walk by 18months (boys) or 2 years (girls): Check creatinine kinase.Walk other than on tiptoes
Run by 2.5 years
Hold objects in hand by 5 months
Reach for objects by 6 months
Points to objects to share interest by 2 years
Investigations for Developmental Syndromes and Delay in Children
- genetic testing
- Creatinine kinase
- Thyroid screening
- Metabolic testing
+ Lead
Ophthalmological examination
Audiology assessment
Consider congenital infection
Neuroimaging
MDT approach to develop. delay / syndromes
Developmental paediatrician
Speech and Language therapist
OT/ PT: functional impairments and strengths
Psychologist
Social worker
Geneticist
Additional Support for Learning
“To ensure the development of the personality, talents and mental and physical abilities of that child or young person to their fullest potential.”
Difficulties with mainstream approaches to learning
Disability or health needs, such as motor or sensory impairment, learning difficulties or autistic spectrum disorder.
Family circumstances e.g. young people
who are carers or parents
Types of Support Plans
- Individualised Educational Plan
- Coordinated Support Plan: LEGAL DOCUMENT
For children in local authority school education and needing significant additional support.
Complex or multiple needs
Needs likely to continue > 1 year
Support required by > 1 agency.
The parents’ guide to additional support for learning, Enquire (2016) - GIRFEC: part of ‘Childen and Young People Act 2016
person needs some extra support to meet their wellbeing needs such as access to mental health services or respite care, or help from a range of different agencies.
Spastic Diplegia
- scissored leg flexion, hypertonia
=> Cerebral Palsy
Trisomy 21
Learning disability
Congenital heart disease
Hypothyroidism
Immunity
Early onset Alzheimer disease
Non-invasive prenatal testing will mean more of these pregnancies are detected prenatally
- downs syndrome association
Deformation & Disruption
Normal start of development progresses to abn
= deform
= dissruption (absent organs/parts)
e.g. amniotic bands
association:
+ vertebral anomalies
+ano-rectal fistuals
+ tracheo-oesophageal fistula
+ radial anomalies
VATER Association
association w/ disruption/deformaation:
+ vertebral anomalies
+ano-rectal fistuals
+ tracheo-oesophageal fistula
+ radial anomalies
Turner Syndrome
In this condition there is only one X chromosome in the female.
Generalised oedema (hydrops)
Nuchal thickening / fat pad
+web necked
+ low posterior hairline
- short stature
- coarctation f ao, hypothyroid, UTI, osteopor., HT
- 1º amenorrhoea & infert.
22q11 deletion
Cleft palate
Abnormal facies
Thymic hypoplasia / immune deficiency
Calcium
Heart problems
Caused by 22 deletion
“CATCH 22”
Basis of genetic testing
whole-exome sequencing of germline DNA
& whole genome testing
