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A3 ME3034 SPECIALTIES > W07 - PAEDS: Neurology; Special Needs; Genetics > Flashcards

W07 - PAEDS: Neurology; Special Needs; Genetics Flashcards

1
Q

Developmental Hx

A

Motor milestone: gross & fine motor

Speech and language dev.

Early cognitive development

Play & Social behaviour

Self-help skills

Vision & Hearing

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2
Q

Common neuro consultations

A
  • migraine
  • brain injury
  • tourette syndrome
  • epilepsy
  • brain tumours
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3
Q

Headaches in Children

A
  • 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

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4
Q

Childhood migraine

A
  • abdo pain, N&V
  • focal symptoms: vis., paresthesia, weakness
  • pallow
  • photophobic, noise
  • fatigue, stress

?FHx

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5
Q

Red flags for paeds headache

A
  • WORSENS WITH COUGHING, STRAINING, BENDING = ICP
    + morniing headache vom.
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6
Q

When to neuroimage

A
  • cerebellar dysfunction
  • ICP
  • New focal deficit e.g squint
  • Seizures
  • personality change
  • unexplained deterioration
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7
Q

Mgmt of Chiildhood Headaches

A

Migraine
> Triptans
> Pain relief

> Preventative
- pizotifen
- proranolol
- amitryptyline
- topiramate
- valporate

TTH
> analgesia (CI in chronic TTH)
> preventative: amitryptilline

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8
Q

Seizure mimics in Children (Paroxysmal Non-Epileptic Events)

A

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
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9
Q

Seizures in Children

A

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

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10
Q

Mechanisms of epileptic fit

A

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)

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11
Q

Investigating seizures/fits in children and mgmt

A
  • 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.

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12
Q

What is the last fontanelle to close?

A

Anterior fontanelle between 1-3yo

  1. posterior fontanelle closes first
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13
Q

Microcephaly and Macrocephaly

A

Utilising OFC

OFC <2 = mild micro
OFC <3 = mod/severe
OFC >2SD

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14
Q

Head shape problem types

A

PLAGIOCEPHALY = flat head

BRACHYCEPHALY = short head or flat at back

SCAPHOCEPHALY = boat shaped skull

Craniosynostosis = fusion too early

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15
Q

Neuromuscular Disorder Signs

A
  • floppy from birth
  • slips from hands
  • paucity of limb movements
  • alert but less motor activity
  • delayed motor milestones
  • walks but falls frequently
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16
Q

Duchenne Muscular Dystrophy

A

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

17
Q

Neuropathy Vs Myopathy

A

Neuro: DISTAL WEAKN
+ sensory deficit, reflex loss, fasciculations

Myopathy: PROXIMAL WEAKN.
+ contractures, cardiomyopathy

18
Q

Definition and assessment of development delay

A

a

19
Q

Primary and secondary care assessment tools for developmental delays

A

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

20
Q

Quantifying Developmental abilities

A

DELAY: global vs isolated

DISORDER

REGRESSION

21
Q

Sceening in common syndromes

A
  • vision disorders
  • hearing impairment
  • cardiac (congenital heart disease in trisomy21)
22
Q

Flags for Developmental Delay

A

(+)
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

23
Q

Investigations for Developmental Syndromes and Delay in Children

A
  • genetic testing
  • Creatinine kinase
  • Thyroid screening
  • Metabolic testing

+ Lead

Ophthalmological examination
Audiology assessment
Consider congenital infection
Neuroimaging

24
Q

MDT approach to develop. delay / syndromes

A

Developmental paediatrician
Speech and Language therapist
OT/ PT: functional impairments and strengths
Psychologist
Social worker
Geneticist

25
Q

Additional Support for Learning

A

“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

26
Q

Types of Support Plans

A
  • 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.
27
Q

Spastic Diplegia

A
  • scissored leg flexion, hypertonia

=> Cerebral Palsy

28
Q

Trisomy 21

A

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
29
Q

Deformation & Disruption

A

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

30
Q

VATER Association

A

association w/ disruption/deformaation:
+ vertebral anomalies
+ano-rectal fistuals
+ tracheo-oesophageal fistula
+ radial anomalies

31
Q

Turner Syndrome

A

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.
32
Q

22q11 deletion

A

Cleft palate
Abnormal facies
Thymic hypoplasia / immune deficiency
Calcium
Heart problems
Caused by 22 deletion
“CATCH 22”

33
Q

Basis of genetic testing

A

whole-exome sequencing of germline DNA

& whole genome testing

A3 ME3034 SPECIALTIES (27 decks)

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