Gen med/Dev med Flashcards
Tympanometry:
What are the diagnoses for A, B and C?
- *Type A** - Normal
- *Type B** - fluid in middle ear, perforation, debris in external ear
- *Type C** - eustachian tube dysfunction
Aetiology global dev delay
Prematurity
HIE
Prenatal toxins
PRENATAL
- GEnetic (t21, Fr X)
- Toxin (foetal alch)
- Infectious (TORCH)
PERINATAL neurological insult
- Prem
- HIE
POSTNATAL
- Acquired brain injury (infection, trauma)
- Psychosocial deprivation
Ix for global developmental delay
- Audiology
- Formal vision testing
- FBE, UEC
- Karyotype (45X), 47XXY, T21, translocations and large deletions)
- DNA for Fragile X triplet repeat
- TSH
- ferritin, vitamin B12, vitamin D
- lead level
- CK if motor delays (MD)
Consider referral to specialist for:
- MRI if abnormal head size, focal seizures or abnormal neuro exam
- Metabolic testing if: regression, neonatal hypotonia, fam hx
- EEG if suggestive hx of epilepsy (4.4% abnormalities but provided aetiology in only 0.4%)
- WES in specific cases
16p11.2 mutation is assoc with what?
developmental delay and obesity
What is fragile X caused by?
unstable triplet repeat of FMR1 on X chromosome (symptomatic if >200)
Boys have classic phenotype but girls can have significant anxiety and learning disorders
Referrals for dev delay
Speech ad language therapy, visual assessment, PT, OT
Refer early childhood early intervention via NDIS (if 2 or more delayed areas)
Local community health centre (if only language delay, shorter wait times)
Private
- GP team care plan (5 medicare funded sessions)
- mental health plan for psych services
- carer’s allowance
- private health insurance
PRESCHOOL enrolment
Supportive transition to prep
May be eligible for extra funding at school (autism etc)
When does crying peak?
starts at 2 weeks of age, peaks at 4-5 months then wakes
When to do metabolic investigations for developmental delay
What are baseline metabolic ix for this?
Baseline urine in all cases: urinary amino and organic acids (aminoaciduria and organic acid disorders), glycosaminoglycans (?lysosomal disorder)
Suspect in the cases of:
- hx of recurrent or unexplained vomiting, specific food aversion, acute or recurrent encephalopathy, seizures or dev regression
- exam: organomegaly, myopathy, cardiomyopathy, liver disease or sudden unexpected death
10% of babies w ‘colic’ /crying have an organic cause - what are the ddx for this?
10% - CMPA or soy protein
GORD
Lactose intolerance
Early CP
CMPA features
Crying/colic
blood/mucus in bowels
poor weight gain
eczema
VOMITING/not possiting
Fx of relative w food allergy
Crying persisting beyond first 3 months
crying baby
frothy diarrhoea
perianal excoriation
what is this and what further ix could u do to confirm?
Lactose intolerance
stool for reducing substances
- consider if reducing substances >0.35% and pH < 5.5
Could also do lactose hydrogen breath test if available
how does baby sleep change w age
mostly rem sleep initially, transitioning to mostly NREM sleep when older
normal is 10-19 hours (highly variable)
usually sleeping through night by ~3months of age
Management suspected lactose intolerance
trial lactose free formula or if breast feeding, can express breast milk and treat it with lactase tablets
management of suspected CMPA
2 week trial of extensively hydrolysed formula
if BF - cows milk and dairy exclusion diet + Ca sumps for mo
Side effects of PPIs
Risk pneumonia, gastro, later fractures and allergy
also NO effect when compared with placebo
probiotics - evidence for tx in crying
reduces crying duration in breast fed infants
consider in otherwise well breast fed infants - 28 day trial 5 drops a day of lactobacilli rotari
Non organic reasons for baby crying
Tired (babies become tired after 1.5-2hrs of being awake)
- put baby in cot when they are awake, settle at 2 min intervals until quiet but not asleep (encourage babies to settle themselves to sleep)
- Hungry
- Unable to self sooth
- maternal anxiety/depression
what is dyslexia?
difficulties in fluent word recognition,
poor spelling and decoding abilities
neurobiological in aetiology
Environmental factors for learning difficulties
Poverty, low SES
Cultural, language differences
Family factors (level of stimulation, organisation, attitudes)
Inappropriate expectations
Limited preschool experience
Limited experience w books/being read to
School factors
Diagnostic criteria of ADHD
6/9 of any one for at least 6 months, started before ages 12 years old, in at least 2 settings
1. Inattentive
Overlook or miss details and make seemingly careless mistakes in schoolwork, at work, or during other activities
Have difficulty sustaining attention during play or tasks, such as conversations, lectures, or lengthy reading
Not seem to listen when spoken to directly
Find it hard to follow through on instructions or finish schoolwork, chores, or duties in the workplace, or may start tasks but lose focus and get easily sidetracked
Have difficulty organizing tasks and activities, doing tasks in sequence, keeping materials and belongings in order, managing time, and meeting deadlines
Avoid tasks that require sustained mental effort, such as homework, or for teens and older adults, preparing reports, completing forms, or reviewing lengthy papers
Lose things necessary for tasks or activities, such as school supplies, pencils, books, tools, wallets, keys, paperwork, eyeglasses, and cell phones
Be easily distracted by unrelated thoughts or stimuli
Be forgetful in daily activities, such as chores, errands, returning calls, and keeping appointments
2. hyperactive/ impulsive
Fidget and squirm while seated
Leave their seats in situations when staying seated is expected, such as in the classroom or the office
Run, dash around, or climb at inappropriate times or, in teens and adults, often feel restless
Be unable to play or engage in hobbies quietly
Be constantly in motion or on the go, or act as if driven by a motor
Talk excessively
Answer questions before they are fully asked, finish other people’s sentences, or speak without waiting for a turn in a conversation
Have difficulty waiting one’s turn
Interrupt or intrude on others, for example in conversations, games, or activities
- both
Treatment of ADHD
Behavioural psychotherapy
- time mgmt
- organisational skills
- working memory intervention
- parent support and parenting skills
Medications, shown to be much more beneficial than behavioural tx
- Stimulants (incr NT such as DA) ex: methylphenidate (ritalin) and dexamphetamine (Vyvanse). - alpha agonists (clonidine)
Correlations with learning disorders
- poor self regulation
- ADHD
- speech and language delays
- motor delay
- autism spectrum disorder
- family dysfunction
- medical comorbidities (epilepsy)
Cause of ADHD
Nature/genetics (70-80% heritability)
- 5-10x incr risk for 1st degree relatives. - Low levels of neurotransmitters dopamine and norepinephrine
Nurture/environment
- prenatal (neurotoxins; alchohol)
- lead
- traumatic brain injury
- prematurity/LBW
- food plays minimal role
- prenatal depression
- early depreivation
- psychosocial deprivation
- harsh parenting of young children (note that ADHD may evoke harsh parenting behaviours)
How is inattentive type ADHD different from hyperactive form?
Gender ratio 1:1
Later age of onset
More cognitive and learning problems rather than disruptive behaviour
Response to stimulant medication is less marked
prevalence of ADHD in general population
5%
Boys: girls 2:1 (up to 5:1 reported in literature but girls tend to be under recognised and under referred)
Diagnosis of ADHD
- Connors behaviour rating scale (parent AND teacher)
- Psychology assessment
- Speech path
- OT
- Neuropsych assessment, EEG not helpful/useful in ADHD
Key com orbid conditions seen w ADHD
- Learning disorders (spelling/reading/arithmetic/writing) - 40%
- Aggression; oppositional defiant disorder/conduct disorder - 27%
- Anxiety and/or depressive disorders - 12-15%
- Speech and language disorders (articulation/grammar) - 12%
- Tic disorders
- ASD
SE of stimulants in treating ADHD
Anorexia - usually initial LOW then tends to stabilise
Irritability - occurs at either peak or trough of level.
Emotional blunting (‘loses spark’) -> indication to cease stimulant mx
Exacerbatio of anxiety and tics (common comorbidities in ADHD)
Initial insomnia
Depression, psychosis, mania
?increased risk of sudden unexpected death - no clear relation however FDA recommends ECG, echo +/- cardio review if known cardiac disease or hx/oe concerning
ASD diagnostic criteria
Deficits in all 3 of criteria A
A) Social communication and social interaction
1> difficulty in social-emotional reciprocity
2> deficits/difficulty interpreting communicative behaviours used for social interaction/non verbal communication
3> difficulty developing, maintaining, understanding relationships
At least 2 of 4 of criteria B) Restrictive, repetitive behaviours, interests or activities, strict routines or rituals
1> stereotyped/repetitive motor movements/objects/speech
2> rigid inflexible adherence to routines/behaviour, insistence on sameness
3> highly restricted, fixated interests abnormal in intensity or focus
4> hypersensitivity to sensory input or sensory aspects of environment
Top 3 most common reasons for presentation and subsequent ASD diagnosis
Delay in talking/language problems (40.9%)
Abnormalities in social development (19.3%)
General behavioural problems (12.7%)
Ddx for autism
speech delay or language disorder
Global dev delay or ID
Hearing impairment
Selective mutism
Reactive attachment
Anxiety
Landau Kleffner syndrome
MOA - vyvanse and ritalin
Vyvanse = Lisdexamfetamine Ritaline = dexamphetamine
Both are sympathomimetics -
block reuptake of DA and NA in synaptic cleft which improves alertness and arousal (as ADHD is caused by LOW levels of DA and LA)
how common is autism
1/65
Conditions associated with ASD
Fragile X
Tuberous sclerosis
REtt syndrome
Joubert syndrome
WAGR sundrome
Sotos syndroe
NF type 1
DMD
Downs syndrome
Turners syndrome
what is the newborn hearing screen test called?
AABR (automated auditory brainstem response)
Done within 1-2 days of birth -> if doesn’t pass, for follow up screen within 30 days -> further fail, refer to diagnostic audiology
Landau Kleffner syndrome
presentation
Epilepsy disorder presenting age 2-8
- Presents as normal development until Loses the ability to talk and understand speech
- Associated with hyperactivity, attention deficits, temper outbursts, impulsivity, and/or withdrawn behaviors; ID
Severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures (mostly focal or absence type) in most patients
Ex: 5 year old male with normal development until sudden abrupt deterioration in speech -\> mutism And seizures (partial or generalised)
Causes of hearing loss - congenital
- Prenatal - infection (CMV/TORCH), drugs, alcohol
- Structural (bilateral) - enlarged vestibular aqueducts, absent 8th CN, brain abnormality etc
- 50% Genetic (bilateral HL)
- 30% syndromic
- 70% non syndromic (Connexin 26/30 most common)
Causes of hearing loss - congenital
- Prenatal - infection (CMV/TORCH), drugs, alcohol
- Structural (bilateral) - enlarged vestibular aqueducts, absent 8th CN, brain abnormality etc
- 50% Genetic (bilateral HL)
- 30% syndromic
- 70% non syndromic (Connexin 26/30 most common)
Management of ASD
- Paed: medication prescription for comorbidities
- -> stimulants for ADHD
- -> SSRIs for OCD/anxiety
- -> risperidone for aggression/challenging behaviour
- -> melatonin, clonidine for sleep disorder
Multi-disciplinary:
- Psychologist - social skills, mood, anxiety, learning
- SP -> can help with non-verbal aspects of communication (eye contact, social cues etc)
- OT - sensory issues, play skills, fine motor skills
- PT - movement/coordination
Pendred syndrome
Goitre
Sensorineural hearing loss
Enlarged vestibular aqueducts
Cochlear abnormalities
Vestibular dysfunction
Can develop hypothyroidism later in life
Genetic - AR inheritance
What is the leading genetic cause of deafness and blindness
Usher syndrome
Features of Usher syndrome
- Retinitis pigmentosa -> blindness
- Vestibular dysfunction -> hearing loss
Type 1 - profound deafness from birth and decr night vision from 10yrs of age with retinitis pigmentosa pre-pubertal
Also affects vestibular function (balance) so delayed motor milestones
Type 2 and 3 - less severe, later onset hearing loss and vision loss with NORMAL vestibular function
Causes of hearing loss
- acquired
Perinatal
- Asphyxia
- drugs
- Kernicterus
- prematurity
Postnatal
- Chemotherapy main one (Cisplatin-> BL high freq SNHL)
- Trauma
- Meningitis
Jervell and Lange-Nielson syndromes
Forms of long QT syndrome asssoc w deafness
Genetic - AR
CV
- Prolonged QT on ECG
- Sudden death
Bilateral profound SN hearing loss
Enlarged vestibular aqueducts
What sort of hearing loss does it cause and what is the presentation?
Advice for patients who are diagnosed with this?
- May have sudden onset, either spontaneously or after minor head trauma
- Fluctuating and progressive course
Sensorineural or mixed hearing loss
ASsoc
- Pendred syndrome
- Vestibular (balance problems) anomalies
- Cochlear and semi circular canal anomalies
Advice
- Important to avoid contact sports/scuba diving/gymnastics as minimal head trauma can cause large deterioration in hearing
What is most common infectious cause of hearing loss?
What type of hearing loss is it?
Congenital CMV infection
SNHL
Diagnosis of congenital CMV infection
PCR on
- saliva or urine within 21 days
- guthrie blood spot (>21 days)
Pigmentary abnormalities + hearing impairment
ddx?
NF Waardenburg syndrome (AD genetic condition featuring distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness)
Renal anomalies + hearing and vision impairment
ddx
Alport syndrome (SNHL)
short stature + hearing impairment
?ddx
stickler syndrome (connective tissue disorder- COL2a)
Di George
CHARGE
Goitre + hearing impairment
ddc
PEndred syndrome
autosomal recessive disorder that is classically defined by the combination of BL sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake.
Vision and hearing impairment
ddx
Usher syndrome
Rare genetic disorder primarily characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound) input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that affects the retina and causes progressive loss of vision
- type 1: relatively early onset of retinitis pigments in first decade of life
- type 2 - 60%. milder hearing loss and later onset retinitis pigmentosa
Tier 1 ix for hearing impairment
- MRI (NOT CT) - high diagnostic yield 30-50%
- exclude structural aetiology ie enlarged vestibular aqueducts/endolympphatic sacs, absent CV 8 etc
- needed pre cochlear implant surgery - CMV testing (saliva/urine PCR or guthrie card)
- VIsual acuity assessment
- daily audiogram
Tier 2 ix for hearing impairment
Genetics if parents consenting and available and bilateral HL (connexin testing -> WES)
Ophthalmology if vision problems or suspected vision problems (not walking at 18mo, poor coordination etc)
TFTs if fx thyroid
disease or goitre/poor growth/developmental delay
CT head - if conductive hearing loss or post meningitis
Renal USS if suspected branch-oto-renal syndrome (ear pits/tags) or fhx renal problems
Urine microscopy (fox haematuria or suspected branchotorenal syndrome)
Genetics for mitochondrial DNA disorder
Urine metabolic screen (hepatosplenomegaly, developmental regression)
Gross motor delay and hearing loss - what to think of?
Vestibular dysfunction
may also have unusual posturing due to ?dizziness ?vertigo
delayed sitting up
Pendred syndrome
Usher syndrome
0-12 months language
babbling
eye gaze
positive affect
1-2 words
1-2 yrs language milestones
speech sounds
vocal 50-300 words
social games
emerging word combos
2-3 years language milestones
Intelligible speech
1000+ words ~ 3yo vocabulary
sentences contain grammar
Pragmatic skills (social language)
Questions - what and who
Chronic fatigue syndrome
diagnostic criteria
Prolonged fatigue that is not medically explained
- unrefreshing sleep
- post exertional malaise lasting >24hrs
- assoc cognitive deficits (impaired concentration or short term memory, lost for words, vivid dreams)
- reduced function
- orthostatic intolerance (dizziness, palpitations, SOB)
- pain (joints, muscle, chronic headache, neck glands, sore thought without other infective sx, stomach etc)
Often triggered by infective illness (often EBV/glandular fever, also CMV, flu, chicken pox, etc)
-
Management of Chronic fatigue syndrome
Symptom management
- headache: migraine medications
- sleep disturbance:
- Nausea and dietary disturbance
Lifestyle management
- remain at school
- family and emotional support
- retain at least one enjoyable activity a week
What age does object permanence develop?
* 8-12 months: a child will be able to uncover an object he sees being hidden
* 12-18 months: child will be able to uncover an object even if he doesn’t see it being hidden
* DEfinition: understanding that objects continue to exist even when they cannot be seen, heard, or otherwise sensed *
Management of night terrors
- non pharm: education and reassurance to parents; safety precautions; sleep hygiene; sheduled awakenings (wake child 30min before expected episode to disrupt sleep cycle)
- Pharm only if severe, high risk injury, violent behaviours etc. Low dose clonaz for 4-6 weeks.
Indications for investigations with suspected night terrors
- Only if history is unclear, nocturnal events very frequent, violent or atypical, or if here is impaired sleep quality (may be a sign of OSA)
Features of night terrors/sleepwalking
* Genetic predisposition
* Common characteristics
* Child is confused and unresponsive
* Retrograde amnesia
* Varying degrees of autonomic activation
* Different types
* Confusional - toddlers (3-5yo), sit up in bed whimpering/crying/moaning, Distressed and inconsolable, generally no autonomic activation. Disoriented and confused on forced arousal.
* Night terror - 4-8yo. sudden awakening from sleep w loud scream, agitation and autonomic sx (dilated pupils, flushing, sweating), inconsolable.
* Sleep walking - 8-12yo. quiet walking, performance of simple tasks including opening doors/windows and walking outside.
Difference between night terror and nightmare
Night terrors occur when NREM sleep predominates (first third of the night) contrasting nightmares which occur in the last third of the night when REM sleep predominates
Rinnes test for hearing - how to perform it and summary of results
HOW TO PERFORM IT
- Place a vibrating 512 Hz tuning fork firmly on the mastoid process (apply pressure to the opposite side of the head to make sure the contact is firm). This tests bone conduction.
- Confirm the patient can hear the sound of the tuning fork and then ask them to tell you when they can no longer hear it.
- When the patient can no longer hear the sound, move the tuning fork in front of the external auditory meatus to test air conduction.
- Ask the patient if they can now hear the sound again. If they can hear the sound, it suggests air conduction is better than bone conduction, which is what would be expected in a healthy individual (this is often confusingly referred to as a “Rinne’s positive” result).
RESULTS
Normal result: air conduction > bone conduction (Rinne’s positive)
Sensorineural deafness: air conduction > bone conduction (Rinne’s positive) – due to both air and bone conduction being reduced equally
Conductive deafness: bone conduction > air conduction (Rinne’s negative)
Conductive vs SNHL
Conductive hearing loss occurs when sound is unable to effectively transfer at any point between the outer ear, external auditory canal, tympanic membrane and middle ear (ossicles). Causes of conductive hearing loss include excessive ear wax, otitis externa, otitis media, perforated tympanic membrane and otosclerosis.
- > rinnes test neg (bone > air conduction as only bone conduction is reduced)
- > webers test lateralises to bad ear
- > air bone difference >10db on audiogram with air conduction worse (ex 50db) than bone conduction (ex 20db)
Sensorineural hearing loss occurs due to dysfunction of the cochlea and/or vestibulocochlear nerve. Causes of sensorineural hearing loss include increasing age (presbycusis), excessive noise exposure, genetic mutations, viral infections (e.g. cytomegalovirus) and ototoxic agents (e.g. gentamicin).
- > rinnes test positive (air > bone as both are reduced due to nerve problem )
- > webers test lateralises to good ear
- > no air/bone difference on audiogram
Most common genetic cause for SNHL
Connexin 26 mutation
How to read an audiogram
Audiogram
- Y axis is decibels (loudness), runs top to bottom. Normal is 0-20db. hearing loss is >20db
- X axis is frequency Hx (pitch), runs left (low freq; vowels) to right (high freq; consonants, lower voices)
Otosclerosis - what type of hearing loss?
- AD condition
- Abnormal bone growth of the temporal bone – resulting in fixation of the stapes to the oval window
- Hearing loss initially conductive followed by NSHL (but even so, connexin would be more common cause)
Goldenhar syndrome
What type of hearing loss does it result in?
ie 1st and 2nd brachial arch maldevelopment
Results in malformations on generally one side of body; ear, eye, cleft palate/lip and spine (scoliosis)
- > associated unilateral conductive hearing loss (may be mixed)
- > hemifacial microsomia/facial assymmetry
What do you have to think of when adolescent/young adult presents with ?partial arousal parasomnia ( ie sleep terrors/confusional arousals/sleep walking occur in children)
Nocturnal frontal lobe epilepsy (NFLE)
Can present with brief, repetitive stereotypical movements +/- vocalisations throughout the night that may be associated with awareness by the patients
Alternatively, NFLE can present with bizarre complex stereotypic dystonic movements which typically last < 2 minutes
Generally occurs in adolescents, young adults (vs PAP ie sleep terrors/confusional arousals/sleep walking occur in children)
what is the chance that a 2yo with delayed language will have resolution of language impairment by 4years of age?
~ 70% chance of resolution
Side effects of dex vs methylphenidate
- The most common side effects reported by children on stimulants are insomnia, decreased appetite, stomachaches, and headaches
- Side effects are generally dose-dependent, mild-mod severity, diminish with changes in dose or timing and usually subside spontaneously within first 1-2weeks of treatment
- Of note, dex caused more severe insomnia, nightmares and negative emotional symptoms than MPH
How does methylphenidate work and what effects does it have in ADHD?
DA reuptake inhibitor
Effects
- Improved sustained attention/ effortful behaviour
- Improved error detection (vigilance)
- Reduced emotional reactions to frustration (impulsiveness)
- Reduced extraneous motor activity
- Increased compliance, improved parenting style, improved peer interactions/ social standing
Does NOT help with learning problems, social skills, ODD or emotional problems but may have facilitate treatment of these
Indication for clonidine use in ADHD
if comorbid tic disorders, motor hyperactivity, ODD or OCD sx
Atomoxetine in ADHD
- Indication for use
- MOA
- SE
SNRI, note 8-12 week onset
- If comorbid anxiety disorder
- Family history of substance abuse (low potential for abuse and diversion c/w dexamphetamine and methylphenidate)
- Motor tics or Tourettes
SE
- Loss of appetite -> LOW
- HTN
- CV disease - stroke, MI
- Suicidal ideation
- May cause insomnia to lesser degree than psychostimulants
Management of school refusal
A school return strategy should be introduced immediately if the period of refusal has been brief, or can be introduced gradually if there has been a longer refusal period. This will minimise continuing problems of missed work, social isolation, low self esteem and avoidance behaviours.
Engage the child by acknowledging the reality of feelings, working together to plan school return and dealing with anxieties through problem solving, relaxation training, breathing retraining, and social skills training.8
Work with parents to reduce potentially undermining doubts about successful re-entry to school. Plan calm morning routines, clear instructions, escort to school and, if necessary, allow the child to stay in contact with parents by phone (see Resources).
Work with the school to ensure clear understanding of the problem, arrange special supports such as modified curriculum, reduced homework or remedial tuition as required, and encourage reinforcers such as access to the garden, special lunch time activities, privileges and rewards.
Monitor regularly to review mental health symptoms and reinforce strategies.
Encouraging both parents and the school to work together to recognise early concerns, think through associated factors and put supportive management plans in place within the scope of the school and home settings, may help differentiate reluctance about school from early school refusal, as well as impede progression of school refusal. Using as many supports as possible to keep the child at school is very helpful.
Paediatric referral may be useful for more detailed assessment and management of the underlying and associated issues.
With established, longer term school refusal, referral to a multidisciplinary mental health team may be required.
https://www.racgp.org.au/afpbackissues/2008/200806/200806sewell.pdf
What is delayed sleep wake phase disorder
Delayed sleep-wake phase disorder (DSWPD) is a disorder in which a person’s sleep is delayed by two or more hours beyond the socially acceptable or conventional bedtime. This delay in falling asleep causes difficulty in waking up at the desired time. As an example, rather than falling asleep at 10:00 pm and waking at 6:30 am, an adolescent with DSWPD will fall asleep well after midnight and have great difficulty getting up in time for school.
Biochemical/lab changes you see with Kawasaki disease
CRP >30
ESR >40
Anaemia
WCC high
Plt high
Albumin low
Raised ALT
Urine WCC high
Echo findings
RF for autism
- Older parents or very young mothers
- Alcohol/valproate in pregnancy
- Maternal thyroid disease
- Family Hx of autism or genetic disorders
- Genetic condition that predisposes to ASD
- Child with ADHD, language disorder or anxiety/mood disorder
Red flags for autism in toddlers
doesn’t respond to name by 12 mo
language delay
not pointing at things of interest by 14 mo
unrelated answers to questions
echolalia - repeats things
Steroids for facial vs body eczema
For sensitive areas (eg face, nappy)
- Hydrocortisone 1% cream or ointment
- Pimecrolimus 1% (Elidel® cream)
- Methylprednisolone aceponate 0.1% (Advantan® lotion) for short term use only
For body
- Methylprednisolone aceponate 0.1% (Advantan® cream, ointment, fatty ointment, lotion)
- Mometasone furoate 0.1% (Elocon® cream, ointment).
- Betamethasone dipropionate 0.05% (Diprosone® /Eleuphrat® )
Treatment of impetigo
Topical Mupirocin 2% ointment or cream to crusted areas tds OR
Cefalexin 33 mg/kg (max 500 mg) oral bd if widespread or large lesions
Testing vision in he following age groups
- 6 weeks
- 6 months
- 1 year
- 1-3 years
- 2-3 years
- 3-5 years
- 6 years+
6 weeks: fix and follow bright objects through 180degrees
6 months: identify and pick up small object
1 year: reach for tiny object (100s and 1000s)
1-3: toy matching test (show a toy at 01 feet and get child to identify the toy)
2-3 years: Kay picture test (shellen chart but with apple, boot, start, duck etc instead of letters)
3-5 years: tumbling E test (use fingers to point in the direction to which the ‘E’ is pointing)
6 years +: snellen chart
Language developmental milestones
0-12 months
- Babbling
- Eye-gaze
- Positive affect
- 1-2 words
1-2 years
- Speech sounds
- Vocabulary (50-300 words)
- Social games
- Emerging word combinations
2-3 years
- Intelligible speech
- Vocab words (1000)
- Sentence contain grammar
- Pragmatic skills (social language)
- Questions – what and who
3-4 years
- 6+ word sentences
- Conversationalists
- Pre-literacy skills
- Grammar includes tense
- Concept of time
- Storytelling ability
- Questions – how and why
Answer question
KEy determinants of language acquisition prior to school and by school entry (~6 years)
Prior to school - environmental such as SES status, unemployed single parent, uneducated parents etc negatively impact
At 6 years: IQ
NAI
bruising sites
- <9mo or non mobile child
- over nonbony areas
- face, ears, buttocks, hands, arms, back, abdomen
- multiple bruises in clusters
- multiple bruises of uniform shape
- bruising w the shape of an object (belt buckle)
NAI - suspicious scalds/burns
Immersion in hot tap water is the most frequently reported nonaccidental scald. A scald pattern of uniform depth, sparing of flexures, uniform burn line demarcation, bilateral burn symmetry and the absence of splash marks suggest forced immersion
Contact burns on an unusual part of a child’s body, such as the genitals or back of the hand, should generate a high level of suspicion of nonaccidental injury.
NAI - suspicious fractures
- Classic metaphyseal lesions
- Rib, especially posterior
- Scapular
- Sternal
- Multiple, especially bilateral
- Fractures at different stages of healing
- Widely separated epiphyses
- Vertebral body, subluxations
- Digital
- Complex skull
developmental milestones - 6 weeks of age
Social - Smiles
Fine motor/vision - Fixes and follows to the midline
Gross motor - Holds head when held in sitting position
Language - Squeals
developmental milestones - 2 months of age
Social - Pays attention to faces; starts to cry when getting bored
Visual/fine motor - Fixes and follows past the midline; hands are predominantly open
Gross motor - Lifts head to 45 degrees; starting to weight-bear
Language - Cooing; turns head towards sound
Developmental milestones - 4 months of age
Social - Likes to play with people; laughs
Fine motor - Reaches with one hand for objects; brings hands together
Gross motor - Full head control; can roll from front to back
Language - Babbling; different cries depending on need
Developmental milestones - 6 months of age
Social - Recognises familiar faces; may become excited when hearing steps
Fine motor - Transfers objects; palmar grasp; puts objects in mouth
Gross motor - Rolls both ways; starting to sit without support; watches hands purposefully; Drinks from a cup and feeds from a spoon
Social - Responds to his name; makes sounds to show happiness or discomfort
dev milestones - 9 months
Social - Stranger anxiety; separation distress; has a favourite toy; plays peek-a-boo
Fine motor - Uses pincer grasp to pick up a cube; looks for hidden objects; releases objects by dropping; bangs two cubes together
Gross motor - Crawls; pulls to stand; stands with support
Language - Understands ‘no’; copies sounds
Dev milestones - 12mo
Social - Waves; exhibits preference for his main caregiver; uses objects correctly (e.g. hairbrush, cup)
Fine motor - Points with index finger; shakes, bangs or throws objects; uses pincer grasp to pick up small objects
Gross motor - Cruises; may take a few steps without support
Speech - Says ‘mama’ and ‘dada’; responds to simple requests
Dev milestones - 18mo
Social - Points to pictures in a book; uses a spoon and cup
Fine motor - Scribbles; builds a tower of 2-3 cubes; turns pages (2-3 at a time)
Gross motor - Throws objects; runs stiffly; kicks a ball
Language - Uses several words; knows three body parts
Dev milestones - 2 years
Social - learning to share and take turns; parallel play
Fine motor - Builds a tower of 6-7 cubes; turns page (one at a time); draws a vertical line; circular scribbles
Gross motor - Can walk on tiptoes; runs; up and down stairs (one by one); throws and kicks a ball
Language - uses two word sentences; can follow a simple command;
Developmental milestones - 36 months or 2.5 years
Social - Starts to make friends; dresses with supervision
Fine motor - Cuts paper with scissors; copies O and V with a pencil; eats with fork and spoon
Gross motor - Catches a ball; jumps; rides a tricycle
Language - Gives his name, age and sex; knows three colours
Dev milestones - 4 years old
Social - Pretend play (role-playing); cooperative play; dresses without supervision
Fine motor - Can draw a face; uses a knife and fork; builds a tower of 10 or more cubes
Gross motor - Hops; up and down stairs with alternate feet
Speech - Asks ‘why’ and ‘how’ questions; knows first and last name
Dev milestones- 5 years old
Social - Understands rules; has a sense of humour
Fine motor - Cuts out shapes with scissors; ties shoelaces; colours within the lines; draw basic human figure
Gross motor - Skips
Speech - fluent speech; likes telling stories
global developmental delay
- differentials
Genetic - trisomy 21, angelman, tuberous sclerosis (if dysmorphism, multiple organs involved)
Metabolic - think if organomegaly, consanguinity, fhx foetal death
Endocrine - hypothyroid, addison’s disease (if growth affected)
Traumatic - TBI, NAI (unexplained injury, freq ED presentations)
Environmental = Neglect/malnourishment - if growth affected, abnormal attachment
Infection - perinatal TORCH, CMV (if IUGR) vs postnatal meningitis
Toxins - Antenatal eg. Maternal alcohol, illicit drugs, anti-epileptics, maternal PKU vs postnatal lead
NM disorders - muscular dystrophy, myotonic dystrophy, congenital myopathy (if reduced FM, feeding difficulty, hypotonia)
Prematurity
Genetic conditions associated w Autism
Fragile X
Tuberous sclerosis
NF1
Di george
phelan mcdermid syndrome
What is cerebral palsy?
Clinical diagnosis
Group of disorders (umbrella term) of movement and/or posture and motor function
-> Permanent but NOT unchanging
Due to a NON-PROGRESSIVE lesion/abnormality/interference in the developing/immature brain
Risk factors for CP
Note- >50% of children with CP are term born with no neonatal risk factors
Prem
LBW
Maternal - age, education, multi birth pregnancy, IVF, pmhx FDIU, race, SES, health access
Term infants - RDS, instrumental or ELUSCS, HIE/birth asphyxia, neonatal seizures, hypoglycaemia, neonatal infx, chorioamnionitis, TORCH infections, IVF, IUGR
Post-neonatal CP
- infection
- stroke
- trauma
- ATSI
How do you diagnose CP
Clinical diagnosis
- > history and neuro exam
- > neuroimaging/MRI can be supportive but is not required (can have normal neuroimaging)
CP aetiological pathways
80% inutero event - genetic
10% HIE
8=10% Postnatal - accident/injury/stroke
CP aetiological pathways
80% inutero event - genetic
10% HIE
8=10% Postnatal - accident/injury/stroke
What are ‘CP mimickers’?
Neurodegenerative conditions
-> metabolic conditions (test for plasma aa, acyl carnitine profile, urine organic acids, CSF NT)
Leukoencephalopathies
Disorders of muscle not CNS
Define
monoplegia
hemiplegia
diplegia
triplegia
quadriplegia
monoplegia - one limb, usually LL
hemiplegia - one side of body, UL and LL
diplegia - both legs
triplegia - unilateral UL, both LL
quadriplegia - all for limbs and trunk
Describe a child with CP - features to address
Distribution - bilateral/unilateral
Motor type - spastic, dyskinetic, ataxic, mixed
Aetiology?
Classification (GMFCS)
GMFCS classification
1
• Can walk indoors and outdoors and climb stairs without using hands for support
• Can perform usual activities such as running and jumping
• Has decreased speed, balance and coordination
2
• Can climb stairs with a railing
• Has difficulty with uneven surfaces, inclines or in crowds
• Has only minimal ability to run or jump
3
• Walks with assistive mobility devices indoors and outdoors on level surfaces
• May be able to climb stairs using a railing
• May propel a manual wheelchair and need assistance for long distances or uneven surfaces
4
• Walking ability severely limited even with assistive devices
• Uses wheelchairs most of the time and may propel own power wheelchair
• Standing transfers, with or without assistance
5
• Has physical impairments that restrict voluntary control of movement
• Ability to maintain head and neck position against gravity restricted
• Impaired in all areas of motor function
• Cannot sit or stand independently, even with adaptive equipment
• Cannot independently walk but may be able to use powered mobility
Risk factors for early death in children with CP
Non-walker
Severe ID
Epilepsy
Deafness
Term birth (as assoc with more severe motor impairment)
What is the leading cause of mortality in CP
Respiratory illness
- assoc w frequent hospital admission and impact on QoL
Risk factors for resp infection in CP
GORD
Oropharyngeal dysphagia
Mealtime sx, coughing with feeding
Snoring overnight
Frequent resp sx
recurrent Seizures
Note - all RF for aspiration
Define spasticity vs dystonia
Spasticity - what you FEEL.
Hypertonia, increased resistance which is velocity dependent, associated with ‘spastic catch’
= clonus
Dystonia - what you SEE. sustained or intermittent muscle contractions. Abnormal, often repetitive movements or postures.
Comorbid conditions w CP
MSK problems at GMFCS IV, V
- Hip dysplasia
- Spinal deformity - scoliosis, kyphosis, lordosis
Anxiety, mood disorders
Pain
Sleep problems
Nutrition/weight
Fitness
Transition if teenager
FASD presentation
- Prenatal alcohol exposure - no safe drinking level
- Neurodevelopmental problems - literally causes TBI
- social and language problems, executive function
- cognition/IQ, learning and attention
- microcephaly and growth deficits - typical facial features (short palpebral fissures, smooth philtrum, thin upper lip) - note not required for diagnosis
+/- alcohol related birth defects (heart, kidneys, GIT)
what is the lower limit of a normal IQ?
< 70 is abnormal (<2SD below mean)
Bruising - red flags for NAI
FACESp4 rule
Any bruise <=4 months of age or if <4yo on torso, ears, neck
F - frenulum
Angle of jaw
Cheek bruising
Eyelid bruise
Subconjunctival haemorrhage
patterned bruising
Lots of bruises ?NAI ?coagulation disorder
shape/patterned bruises - linear, tram tracking, pinch mark or fingertip bruising etc
Ix for the bruised child
FBE, film
PT, APTT, INR, fibrinogen
VWF Ag/activity and blood group
Factors 8,9
Liver, renal function
Skeletal survey and bone survey
Cranial imaging if <1yo
Eye exam ?retinal haemmhorages
Under what age should fracture trigger u to consider NAI?
<3yo
Clinical consequences of shaken baby (acel/descel injury)
<12mo
- SUBDURAL haemorrhage
- retinal haemorrhages
- encephalopathy
- Bruises (head and neck) +/- fractures (posterior ribs, metaphysical #)
RF for neglect and emotional abuse
Parental mental illness
Drug affected parents
Family violence
Victorian consent laws
- Age to sexual consent is 16yo
- Age >16 CANNOT consent to sex w an adult in a position of responsibility (ie 17 w a school teacher)
- At 12 can consent w a peer <= 2 years older (ie 13 and 15 but NOT 15 and 19)
Diagnosis of intellectual disbiliy
- >/= 2 SD below average, equates to standard IQ score below 70
- > Use WISCV, stanford-Binet V standardised assessment tools - Impairment of adaptive function >/= 2SD below mean (measures aDL)
- > ABAS-3 and vineland standardised tests - Onset in developmental period
Causes of ID
- Genetic - T21, fragile X, copy number variants
- Neuro
- Metabolic
- Trauma - ABI
- Environmental - lead, FASD
Specific learning disorder names
- reading
- written expression
- maths
Dylexia (80% of SLD)
Dysgraphia
Dysarthria
DSM criteria
- at least 6 months duration DESPITE targeted help
- difficulties start during school-age
- not due to other conditions (ID, vision/hearing, genetic/metabolic condition etc)
- does NOT require cognitive assessment (but usually do this to exclude ID)
Broca’s vs Wernicke’s areas
- Location
- Roles
Broca’s area: frontal lobe of the dominant hemisphere, usually the left, of the brain with functions linked to speech production.
Wernicke’s: temporal lobe L hemisphere, speech comprehension
What is the most common neurodevelopmental condition affecting children with specific learning disabilities?
ADHD - 1/3 of children with SLD
Genetic conditions featuring ID
T21
Fragile X
NF1
Kleinfelter
22q11 deletion
Prader Willi
Williams
Angelman’s syndrome
what is the most common genetic cause for ID?
T21
what is the most common preventable cause of ID?
foetal alchohol syndrome/ disorder (FASD)
T21
- neurodevelopment and medical conditions associated with it
attention disorders
OCD
inflexibility
ASD
early onset dementia in ~50%
note- lower rates of psychological disorders
medical:
congenital cardiac
duodenal atresia
GOR
hearing loss
OSA
visual disorders
hyroid
coeliac
hypotonia
leukaemia
what is the most common single gene cause of autism
Fragile X (1/3-2/3 have autism)
presentation of fragile X
Long narrow face, large ears, prominent jaw, flexible fingers, flat feet, macroorchidism after puberty
most males have mild-mod ID and dev delay by ~2 years
fragile X associated (in permutation carriers)
- ovarian insufficiency
- tremor/ataxia
- neurophychiatric disorders (chronic pain, chronic fatigue, fibromyalgia, anxiety, depression, sleep problems, autoimmune disorders)
What sort of neurodevelopmental/learning deficits are assoc q Klinefelter syndrome?
Speech and language delays in 70-80% from 24months of age
-> specific learning difficulties, particularly dyslexia
Motor delays in 1/5
Autism in 1/3
Average to low average IQ
Mood/anxiety disorders in 2-8%
NF 1 associated neurodevelopmental/learning deficits
Lower average IQ
ADHD
SLD - particularly maths
Executive dysfunction 40%
Visual spacial deficits in 50%
Social deficits in 40$
ASD in 25%
Tic disorders onset and peak
onset 4-7yo, peaks 11-12 yo
Chronic tic disorders - definition and types
Onset before 18 yo
Tics present for > 1 yr
Not due to a substance or other medical condition (HD, postural encephalitis)
Can have chronic vocal OR motor tics
Or can have tourette’s disorder (both multiple motor and one or more vocal tics present not necessarily together)
Pathophys of tics
Basal ganglia and corticostriatal and frontal dysfunction
- involving DA nad NA pathways -? disinhibition of unwanted thoughts, sensory inputs, motor outputs etc
Genetics of Tourettes disorder
No specific genes identified however strongly inherited (fx in 52% and concordance in MZ twins 5:1 to DZ)
Cormorbidities in Tourettes syndrome
80-90% have at least one of the following
- #1 ADHD
- # 2 OCD
- anxiety
- depression
- ODD
- conduct disorder
- sleep disorders
36% risk of developing autoimmune condition
Mx of ADHD with comorbid tics
Best practise is to manage ADHD with the best options - stimulants despite worsening TICS as possible S/E.
- > Greatest predictor of psychosocial QOL in children with tic disorders is ADHD severity. Also, risk of aggression and conduct difficulties in children w tics is largely due to presence of ADHD. However not true in reverse (ADHD outcome is NOT impacted by tic severity).
- > second line (or if tics more predominant sx over adhd) is clonidine or guanfacine, alpha 2 agonist
Medications for tic disorders
Note - NOT 1st line (cognitive behavioural therapy is first line)
- Clonidine (alpha 2 adrenergic agnostic)
- antipsychotics (risperidone, aripripazole, haloperidol)
- other: botulinum toxin A, Deep brain stimulation
- methylphenidate if ADHD comorbid
Need to be managed In conjunction w paed, neurologist, movement disorder specialist
Presentation of
- Croup
vs
- Recurrent/sporadic croup
vs
- bacterial tracheitis
vs
- epiglottis
vs
- FB aspiration
vs
- peritonsillar abscess
vs
- retropharyngeal abscess
Croup: barking cough, coryza, low-grade fever. viral.
Recurrent/sporadic croup: Barking cough without fever and resp sx. Recurs. Afebrile and milder WOB. Viral aetiology +/- allergic or reflux
Bacterial tracheitis: more toxic appearance, higher fever and worse resp sx. Subacute onset. Copious SECRETIONS. Can occur from secondary bacterial infection. No drooling or sore throat.
Epiglottitis
- more toxic appearance, sore throat, muffled voice, DROOLING, tripod positioning. NO barking cough.
Foreign body aspiration
- sudden onset, hx choking
- stridor
Peritonsillar abscess
- age >6yo
- Dysphagia, drooling, muffled voice, throat/neck pain more severe on abscess side. deviation of uvula and tonsillar exudates/erythema
- NO dyspnoea
Retropharyngeal abscess
- age <6yo
- fever, throat pain, dysphagia, neck pain
- DROOLING, stridor, nuchal rigidity
- Often dyspnoeic
Hearing loss
CHD
Renal problems
Cleft lip/palate
Ddx?
CHARGE syndrome
Hearing loss is generally asymmetrical mixed -> absence or malformation of virtually every component of auditory system
Conductive components, which are due to a combination of ossicular anomalies and middle ear effusion, are often asymmetrical and fluctuating in nature; cochlear hearing loss, often due to cochlear malformations, is typically greater in the high frequencies. Three examples of hearing loss in CHARGE are shown below. Hearing results were specified using the audiometric standard in effect when the audiograms were obtained.
What is Mondini Malformation and what does it cause
Cochlear hypolasia (occurs during embryonic development)
- > 1.5 turns to the cochlea instead of the expected 2.5.
- > The interscalar septum between the middle and apical segments also fails to form leading to a confluent, sac-like cochlea.
Results in B/L low frequency SNHL
May also predispose to recurrent meningitis because the defect can act as a “port of entry” to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF)
Assoc conditions:
- Di George
- CHARGE syndrome
- Pendred syndrome
What test is used to assess neurodevelopmental outcomes (risk of CP etc) in preterm infants?
General movements assessment
What does the WISC and WIPPSI assess?
IQ/cognitive ability for primary school chilren
diagnosis of ID - doesn’t assess separate domains.
What does the Griffith test assess?
Developmental assessment - assesses all domains - in preschool and primarys school kids
Ages and stages questionnaire
Developmental screening test for parents to complete re kids age 1-5yo
PEDS questionnaire
Developmental screening test for parents to complte
MCHAT
Validated screening test for autism in toddlers/preschool aged children
Score this image for developmental stage
Simple scoring:
Face = 3 years of age
For every item type, add 3 months
In this case; Head + body, Legs (pair = 3mo), Eyes,
bellv button. feet
= 3 + 6x3 = 4.5yrs
