Gen med/Dev med Flashcards

Question

prevalence of ADHD in general population

Answer 1

5% Boys: girls 2:1 (up to 5:1 reported in literature but girls tend to be under recognised and under referred)

Answer 2

- Connors behaviour rating scale (parent AND teacher) - Psychology assessment - Speech path - OT - Neuropsych assessment, EEG not helpful/useful in ADHD

Answer 3

- 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

Answer 4

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

Answer 5

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

Answer 6

Delay in talking/language problems (40.9%) Abnormalities in social development (19.3%) General behavioural problems (12.7%)

Answer 7

speech delay or language disorder Global dev delay or ID Hearing impairment Selective mutism Reactive attachment Anxiety Landau Kleffner syndrome

Answer 8

``` 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)

Answer 9

Fragile X Tuberous sclerosis REtt syndrome Joubert syndrome WAGR sundrome Sotos syndroe NF type 1 DMD Downs syndrome Turners syndrome

Answer 10

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

Answer 11

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) ```

Answer 12

1. Prenatal - infection (CMV/TORCH), drugs, alcohol 2. Structural (bilateral) - enlarged vestibular aqueducts, absent 8th CN, brain abnormality etc 3. 50% Genetic (bilateral HL) - 30% syndromic - 70% non syndromic (Connexin 26/30 most common)

Answer 13

1. Prenatal - infection (CMV/TORCH), drugs, alcohol 2. Structural (bilateral) - enlarged vestibular aqueducts, absent 8th CN, brain abnormality etc 3. 50% Genetic (bilateral HL) - 30% syndromic - 70% non syndromic (Connexin 26/30 most common)

Answer 14

- 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

Answer 15

Goitre Sensorineural hearing loss Enlarged vestibular aqueducts Cochlear abnormalities Vestibular dysfunction Can develop hypothyroidism later in life Genetic - AR inheritance

Answer 16

Usher syndrome

Answer 17

- 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

Answer 18

Perinatal - Asphyxia - drugs - Kernicterus - prematurity Postnatal - Chemotherapy main one (Cisplatin-\> BL high freq SNHL) - Trauma - Meningitis

Answer 19

Forms of long QT syndrome asssoc w deafness Genetic - AR CV - Prolonged QT on ECG - Sudden death Bilateral profound SN hearing loss

Answer 20

- 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

Answer 21

Congenital CMV infection SNHL

Answer 22

PCR on - saliva or urine within 21 days - guthrie blood spot (\>21 days)

Answer 23

``` 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) ```

Answer 24

Alport syndrome (SNHL)

Answer 25

stickler syndrome (connective tissue disorder- COL2a) Di George CHARGE

Answer 26

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.

Answer 27

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

Answer 28

1. 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 2. CMV testing (saliva/urine PCR or guthrie card) 3. VIsual acuity assessment 4. daily audiogram

Answer 29

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)

Answer 30

Vestibular dysfunction may also have unusual posturing due to ?dizziness ?vertigo delayed sitting up Pendred syndrome Usher syndrome

Answer 31

babbling eye gaze positive affect 1-2 words

Answer 32

speech sounds vocal 50-300 words social games emerging word combos

Answer 33

Intelligible speech 1000+ words ~ 3yo vocabulary sentences contain grammar Pragmatic skills (social language) Questions - what and who

Answer 34

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) -

Answer 35

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

Answer 36

\* 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 \*

Answer 37

- 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.

Answer 38

- 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)

Answer 39

\* 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.

Answer 40

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

Answer 41

HOW TO PERFORM IT 1. 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. 2. 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. 3. When the patient can no longer hear the sound, move the tuning fork in front of the external auditory meatus to test air conduction. 4. 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)

Answer 42

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

Answer 43

Connexin 26 mutation

Answer 44

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)

Answer 45

- 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)

Answer 46

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

Answer 47

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)

Answer 48

~ 70% chance of resolution

Answer 49

- 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

Answer 50

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

Answer 51

if comorbid tic disorders, motor hyperactivity, ODD or OCD sx

Answer 52

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

Answer 53

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

Answer 54

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.

Answer 55

CRP \>30 ESR \>40 Anaemia WCC high Plt high Albumin low Raised ALT Urine WCC high Echo findings

Answer 56

- 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

Answer 57

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

Answer 58

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® )

Answer 59

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

Answer 60

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

Answer 61

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

Answer 62

Prior to school - environmental such as SES status, unemployed single parent, uneducated parents etc negatively impact At 6 years: IQ

Answer 63

- \<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)

Answer 64

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.

Answer 65

* 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

Answer 66

Social - Smiles Fine motor/vision - Fixes and follows to the midline Gross motor - Holds head when held in sitting position Language - Squeals

Answer 67

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

Answer 68

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

Answer 69

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

Answer 70

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

Answer 71

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

Answer 72

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

Answer 73

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;

Answer 74

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

Answer 75

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

Answer 76

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

Answer 77

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

Answer 78

Fragile X Tuberous sclerosis NF1 Di george phelan mcdermid syndrome

Answer 79

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

Answer 80

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

Answer 81

Clinical diagnosis - \> history and neuro exam - \> neuroimaging/MRI can be supportive but is not required (can have normal neuroimaging)

Answer 82

80% inutero event - genetic 10% HIE 8=10% Postnatal - accident/injury/stroke

Answer 83

80% inutero event - genetic 10% HIE 8=10% Postnatal - accident/injury/stroke

Answer 84

Neurodegenerative conditions -\> metabolic conditions (test for plasma aa, acyl carnitine profile, urine organic acids, CSF NT) Leukoencephalopathies Disorders of muscle not CNS

Answer 85

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

Answer 86

Distribution - bilateral/unilateral Motor type - spastic, dyskinetic, ataxic, mixed Aetiology? Classification (GMFCS)

Answer 87

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

Answer 88

Non-walker Severe ID Epilepsy Deafness Term birth (as assoc with more severe motor impairment)

Answer 89

Respiratory illness - assoc w frequent hospital admission and impact on QoL

Answer 90

GORD Oropharyngeal dysphagia Mealtime sx, coughing with feeding Snoring overnight Frequent resp sx recurrent Seizures Note - all RF for aspiration

Answer 91

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.

Answer 92

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

Answer 93

1. Prenatal alcohol exposure - no safe drinking level 2. Neurodevelopmental problems - literally causes TBI - social and language problems, executive function - cognition/IQ, learning and attention - microcephaly and growth deficits 3. typical facial features (short palpebral fissures, smooth philtrum, thin upper lip) - note not required for diagnosis +/- alcohol related birth defects (heart, kidneys, GIT)

Answer 94

\< 70 is abnormal (\<2SD below mean)

Answer 95

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

Answer 96

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

Answer 97

\<12mo - SUBDURAL haemorrhage - retinal haemorrhages - encephalopathy - Bruises (head and neck) +/- fractures (posterior ribs, metaphysical #)

Answer 98

Parental mental illness Drug affected parents Family violence

Answer 99

1. Age to sexual consent is 16yo 2. Age \>16 CANNOT consent to sex w an adult in a position of responsibility (ie 17 w a school teacher) 3. At 12 can consent w a peer \<= 2 years older (ie 13 and 15 but NOT 15 and 19)

Answer 100

1. \>/= 2 SD below average, equates to standard IQ score below 70 - \> Use WISCV, stanford-Binet V standardised assessment tools 2. Impairment of adaptive function \>/= 2SD below mean (measures aDL) - \> ABAS-3 and vineland standardised tests 3. Onset in developmental period

Answer 101

1. Genetic - T21, fragile X, copy number variants 2. Neuro 3. Metabolic 4. Trauma - ABI 5. Environmental - lead, FASD

Answer 102

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)

Answer 103

**_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**

Answer 104

ADHD - 1/3 of children with SLD

Answer 105

T21 Fragile X NF1 Kleinfelter 22q11 deletion Prader Willi Williams Angelman's syndrome

Answer 106

foetal alchohol syndrome/ disorder (FASD)

Answer 107

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

Answer 108

Fragile X (1/3-2/3 have autism)

Answer 109

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)

Answer 110

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%

Answer 111

Lower average IQ ADHD SLD - particularly maths Executive dysfunction 40% Visual spacial deficits in 50% Social deficits in 40$ ASD in 25%

Answer 112

onset 4-7yo, peaks 11-12 yo

Answer 113

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)

Answer 114

Basal ganglia and corticostriatal and frontal dysfunction - involving DA nad NA pathways -? disinhibition of unwanted thoughts, sensory inputs, motor outputs etc

Answer 115

No specific genes identified however strongly inherited (fx in 52% and concordance in MZ twins 5:1 to DZ)

Answer 116

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

Answer 117

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

Answer 118

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

Answer 119

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

Answer 120

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.

Answer 121

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

Answer 122

General movements assessment

Answer 123

IQ/cognitive ability for primary school chilren diagnosis of ID - doesn't assess separate domains.

Answer 124

Developmental assessment - assesses all domains - in preschool and primarys school kids

Answer 125

Developmental screening test for parents to complete re kids age 1-5yo

Answer 126

Developmental screening test for parents to complte

Answer 127

Validated screening test for autism in toddlers/preschool aged children

Answer 128

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