Clinical Exam Flashcards

Question

Mid parental height formula

Answer 1

Father + mother +/- 13cm | Divided by 2 (+/- 10cm)

Answer 2

Galant Swimming Parachute

Answer 3

Haemolysis (G6PD) Haemoglobinopathies Infection/inflammation Reduced clearance: Gilbert's, crigler-najjar, hypothyroid Biliary atresia/allagile/choledochal cyst Metabolic (galactosemia and tyrosinaemia) Sepsis TPN related

Answer 4

Hyperplasia: due to haemolysis Infiltrative: such as amyloid or sarcoidosis Congestive: (portal HTN from cirrhosis) Neoplastic: such as ALL/lymphoma Storage:such as gaucher hurler Neiman pick Infections: (EBV CMV malaria) Autoimmune

Answer 5

Connors scale Teacher report Educational psychology assessment

Answer 6

Haemochromatosis can cause deposits anywhere ``` Hypogonadism Cancer Cirrhosis Cardiomyopathy DM Arthropathy ```

Answer 7

Cardiovascular: CHD especially endocaridal cushion defects/AVSD Respiratory: sleep disordered breathing Gastrointestinal: hirsprungs, atresia, coeliac, constipation Endocrine: Thyroid dysfunction, obsess the risk Genitourinary: Musculoskeletal: Hip abnormalities, Atlanto-axial instability, scoliosis Neurological: seizures, psychiatric such as depression, Alzheimer's after 35y, abuse Immune-Haematological: Leukaemias/ immune dysfunction, iron deficiency Dermatological Eye disease: cataracts and refractive errors Hearing/ENT: serous otitis media, hearing impairment

Answer 8

Prenatal: chromosomal - trisomy, fragile x, 22q11 deletion, genetic - TS, metabolic, syndromic - Williams, Prader-Willi, Cornelia de Lange, infections TORCH, toxins and drugs and major structural abnormalities Perinatal: HIE, stroke, trauma, infection, hypoglycaemia Post-natal: Injury, infection, poisoning

Answer 9

1-6 4 = thrill 5 = heard with stethoscope just on skin 6 = heard without stethoscope

Answer 10

``` PDA Operative Shunt murmur AV fistula Ruptured sinus of valsava Severe coarctation Left coronary artery origin from pulmonary artery anomaly Anomalies of origin of the pulmonary artery Truncus ``` - aortic-pulmonary communications - arteriovenous communications (fistulas) - changes in arterial flows - changes in veins flows

Answer 11

VSD MR TR ``` Continuous murmur: PDA Venous hum CoA Surgical shunt such as BT AV fistulae ```

Answer 12

AR PR TS MS

Answer 13

- asthma and regularly use a preventer medication (brown, orange, red or purple inhaler)? - under 5 years and has a significant respiratory illness or been in hospital for a respiratory illness (such as pneumonia, bronchiolitis, asthma)? does your child have a heart condition (such as congenital heart disease or rheumatic heart disease)? does your child have cancer? does your child have an ongoing chest (respiratory) condition, such as bronchiectasis or cystic fibrosis? does your child have diabetes? does your child have ongoing kidney (renal) disease? does your child have HIV or AIDS, an auto-immune disease or another immune deficiency? Flu immunisation is also recommended for those sharing a house with children and young people with long term (chronic) medical conditions. The flu spreads rapidly within households and children are particularly efficient spreaders. It may not be free for household members - they could ask their employer about free or subsidised flu immunisation as many employers offer this to their employees. Flu immunisation is free for some adults; for example, all those over 65 years of age and those with certain long term conditions. Flu immunisation is recommended and free to pregnant women Flu immunisation offers protection in pregnancy. Flu is likely to be more severe in pregnancy and can affect the mother and the unborn baby. Immunisation also offers some protection to the newborn baby.

Answer 14

1. Neurogenic: - third nerve palsy, - horners syndrome 2. Myogenic: - myasthenia gravis, - myopathy, - myotonic dystrophy, - congenital 3. Mechanical - trauma - eyelid oedema - inflammation of eyelid - neoplastic 4. Neurotoxic: - envenomation - chronic opioid abuse

Answer 15

Causes - Lifestyle (sedentery, diet) - metabolic: Cushings, hypothyroidism - inherited - drugs: antipsychotics, antiepileptics, HAART Consequences: - Accelerated atherosclerosis - Dyslipidaemia - diabetes - hypertension - sleep disordered breathing - restrictive ventilation defects - fatty liver - FSGS - Osteoarthritis - Psychological Management - lifestyle factors initially (evidence for short term LOW) - Diet: low fat, low calories< 1500kcal, low salt<2g - exercise: mod workload for 30mins most days of the week - involve dietitian, family, exercise trainer - Review regularly, aiming weight loss of 10-15% - Pharmacological therapy (limited benefit): orlistat (fat binder, Cx GIT/steatorrhoea), fentomene (appetite suppressant Cx cardiomyopathy), topiramate (off label), metformin (if have insulin resistance) - bariatric surgery (evidence for long term weight loss): lap banding, sleeve gastrectomy, gastric bypass

Answer 16

- Hereditary muscular dystrophy - Congenital myopathies - rare - Acquired: PACE, PODS - ---polymyositis, dermatomyositis - --alcohol - --Carcinoma - --Endocrine (hypothyroid, hyperthyroid, Cushings, Acromegaly, hypopituitarism) - --Periodic paralysis - --Osteomalacia - --Drugs (chloroquine, steroids, statins, fibrates) - --Sarcoid - --Myasthenia Gravis

Answer 17

History: - diet intake - nutritional quality of food: red meat, vegetables, protein, dairy products - appetite intake - dysphagia - malabsorptive symptoms - comorbidities, chronic illness - cognitive and functional affects Examination: - BMI, waist circumference - Fe deficiency: pallor, koilonychia, angular stomatitis - B12: atrophic glossitis, peripheral neuropathy, pallor - Thiamine - dementia, Wernicke, kosakoff - Vit D - osteomalacia/osteoporosis - folate - pallor - Vitamin A: poor eyesight peripheral neuropathy, osteoporosis, osteomalacia, dementia, visual distrubance

Answer 18

- non pulsatile - double flicker - moves with respiration (falls with inspiration) - moves with position - accentuates with hep

Answer 19

Ethers danlos (bruises and scars) Marfans Osteogenesis imperfecta

Answer 20

Gaits ``` Circumduction Hemiplegia Wide-based Cerebellar Hip joint abnormality Weakness or hypotonia of legs or pelvic girdle Waddling Proximal myopathies Foot drop (CMT) ```

Answer 21

Signs of chronic liver disease (ABCDEFGHIJ) ``` Asterixis, Ascites, Ankle oedema, Atrophy of testicles Bruising Clubbing/ Colour change of nails (leuconychia) Dupuytren’s contracture Encephalopathy / palmar Erythema Foetor hepaticus Gynaecomastia Hepatomegaly Increase size of parotids Jaundice ```

Answer 22

(HaemoChromatosis Can Cause Deposits Anywhere) ``` Hypogonadism Cancer (hepatocellular) Cirrhosis Cardiomyopathy Diabetes mellitus ```

Answer 23

0/5: no contraction 1/5: muscle flicker, but no movement 2/5: movement possible, but not against gravity (test the joint in its horizontal plane) 3/5: movement possible against gravity, but not against resistance by the examiner 4/5: movement possible against some resistance by the examiner (sometimes this category is subdivided further into 4–/5, 4/5, and 4+/5) 5/5: normal strength

Answer 24

``` SLT to promote oro-motor function Behavioural intervention Bibs Pharmacological options Hyoscine q6h po Hyoscine Patch q72/24 Dental intervention Surgical Botulium toxin A ```

Answer 25

Hepatic VCPBT: ``` Hepatic encephalopathy Esophageal varices Portal hypertension Ascites Thrombosis of portal vein Infection Carcinoma ``` ``` Vitamin deficiencies Coagulopathy Pruritis Bile salt build up Transplant issues ```

Answer 26

Pancreatic enzymes amylase protease lipase

Answer 27

1) Patient → teaching assertiveness skills and confidence building 2) Parent • Source of support for child if having problems • Act as advocate for the child to liase with the school 3) School • Acknowledge problem exists • Establish support mechanisms for students (assigned group of staff) • Anti-bullying policies • Education in classroom (organise project on bullying • Not tolerate bullying @ school • Provision of counsellors or local psychologists Whole School Approaches / Intervention Programmes: Kia Kaha, Police Youth Education Services Resource Kit. Contact your local police education officer at the nearest Police Station. Keeping Ourselves Safe, Police Youth Education Services Resource Kit. Contact your local police education officer at the nearest Police Station. Eliminating Violence Managing Anger, contact your local Specialist Education Services, Internet: http://www.ses.org.nz Helplines / Advice Agencies 0800 NO BULLY (0800 66 28 55). An automated phone helpline that offers advice for pupils who are being bullied. Developed and supported by the New Zealand Police and Telecom New Zealand Limited. The Police / Telecom "Stop Bullying" websitehttp://www.nobully.org.nz offers practical advice and gives some excellent links to other anti-bullying sites. New Zealand Children Young Persons and Their Families Service (see phone book blue pages Government Phone Listings for local number). Mental Health Foundation, refer to your local Health Authority. Youthline, phone 0800 376 633. • Lifeline: 0800 543 354 (available 24/7) * Suicide Crisis Helpline: 0508 828 865 (0508 TAUTOKO) (available 24/7) * Youthline: 0800 376 633 * Kidsline: 0800 543 754 (available 24/7) * Whatsup: 0800 942 8787 (Mon-Fri 1pm to 10pm. Sat-Sun 3pm-10pm) * Depression helpline: 0800 111 757 (available 24/7) * Rainbow Youth: (09) 376 4155 * Samaritans 0800 726 666

Answer 28

3. Placing, stepping (both from birth to 6 weeks). 4. Landau re ex, a two-stage re ex. With the child supported prone (with your hand under the abdomen), the child should (normally) extend head, trunk and hips. is is the rst, and more important, stage. Next, ex the head and neck; normally the response is exion of trunk and hips, but this is less constant than the rst stage ( rst stage from 4 months, plus second stage from 9 months; gone by 2 years). 5. ATNR. With the child supine, the head is rotated to one side. A ‘fencing’ posture develops, with extension of the ipsilateral upper and lower limb (i.e. the side towards which the head is turned) and exion of the opposite side (2–6 months). Persistence beyond 6 months is indicative of upper motor neurone problems, especially CP. Maintaining the ATNR posture throughout the time that the head is held turned, such that the child cannot ‘break’ from that position, is similarly signi cant. 6. Neck-righting re ex. Rotation of the trunk to conform with the position of the head when the head is rotated to one side (6 months to 2 years). 7. Moro re ex (birth to 4 months). As with most primitive re exes, persistence beyond the usual time of disappearance is pathological. Make a point of focusing not only on the limb movements but also the facial response, for asymmetry (e.g. in hemiplegic CP). 8. Parachute re ex. With the infant held in the prone position, move him or her rapidly, face downwards, towards the oor. e normal reaction is to extend both upper limbs as if to break the fall (appears between 6 and 12 months, usually at 9 months, and persists; its absence beyond 12 months is abnormal). Asymmetry occurs with hemiplegia.

Answer 29

``` CMT Frederich ataxia (spinocerebellar degeneration) ```

Answer 30

Floppy weak: SMA, congenital myotonic dystrophy, congenital myopathy, werdnig-Hoffman Floppy strong: downs, hypotonic CP

Answer 31

Idiopathic Paralytic (neuromuscular) Bony or ligamentous (CT disorders)

Answer 32

Xenografts - porcine and bovine | Allograft - cadaveric or auto

Answer 33

``` Congenital HTN Infective Idiopathic Toxin (chemo) Infiltration - amyloid, sarcoidosis, metabolic, haemochromatosis Endocrine Hypothyroidism and acromegaly CTD Ischaemic ```

Answer 34

``` Congenital heart disease Valvular Arrhythmia Ischaemic High output state: anaemia, thyrotoxicosis, Av fistula.. ```

Answer 35

AS PS Hypertrophic cardiomyopathy ASD

Answer 36

Prehepatic: CHf, Budd-Chiari syndrome, IVC obstruction Hepatic: decompensated cirrhosis with portal HTN Nephrotic, TB, chylous, pancreatitis

Answer 37

Iron def, B12 and folate def

Answer 38

Congenital, MG, Myotonic dystrophy, thyrotoxicosis, horners, third nerve palsy

Answer 39

UMN | LMN: bells, OM, acoustic neuroma, meningioma, MS, fracture, Ramsey hunt, parotid enlargement, vascular

Answer 40

Sensory neuropathy

Answer 41

``` Congenital such as CMT Vascular/vasculitis Infectious/inflam - GBS/transverse myelitis, syphillis, botulism, Lyme Trauma Autoimmune MS Metabolic - DM, thyroid, uraemia, vit B12/E, B1 and B6 def Iatrogenic/ idiopathic Neoplastic - A B C Drugs - vincristine, lead ```

Answer 42

CommonPerineal nerve palsy, sciatic nerve palsy, lumbosacral plexus lesion, L4/L5 lesion, PMN, distal myopathy, spinal cord lesion

Answer 43

``` Prader-willi Alstrom Cohen Albrights Carpenter Rubinstein-taybi Fragile x Lawrence moon bardet biedl ```

Answer 44

Pain and temp is spinothalamic pathway | Proprioception/vibration is dorsal columns

Answer 45

Renal artery stenosis, phaeo, coarct, neurofibromas, essential

Answer 46

Waddle weakness in proximal myopathy and wide in cerebellar

Answer 47

Dorsal column pathology

Answer 48

1: explore and fix cause eg smell or drooling 2: increase self esteem highlight strengths and increase support peers and family home environment and 'buddy' or mentor at school and adult he can trust to report to 3: school policy, avoid situations that exacerbate or change schools, karate or other activity to help 4. list some immediate things your child can do when the bullying happens. For example: first, ignore the bullying behaviour. If that doesn’t work, tell the person to stop. If the bullying continues, walk away. Tell someone. 5. Books on bullying or website WHATSUP Cyber bullying may need restrict websites/internet use, kia kaha police programme safety in schools 6. Regularly check in with child and reassure that telling them is the right thing

Answer 49

500ml-2L per day Overproduction or inability to swallow Complications are social implications and embarrassment of pt and family, skin irritation, frequent bib and clothes change, smell, increased risk aspiration, choking and coughing episodes Mx: Saliva clinic SSH Medications - anticholinergics such as atropine and glycopyrolate Behavioural modifications and physical therapy (positioning and seating) Oromotor rehabilitation / therapy by Speech Therapist (increase sucking - straw) and increase oral awareness Orthodontic treatment Improvement of nasal and oral airway patency - Otolaryngology (ENT) Catellio moreles prosthesis Surgery to the salivary glands - side effect dry mouth and dental problems Botox injection to submandibular / parotid glands No treatment but use waterproof bib or clothes

Answer 50

Inadequate intake, neglect Malabsorption Increased energy use or demands

Answer 51

Eliminate cause if can - tubes, reflux, nausea Educate Introduce food early age and make it fun, fa,ily meals Monitor growth Monitor dentition

Answer 52

SCOLI ``` Syndrome NF1 marfans Congenital Orthopaedic (leg length) Low and high tone neuromuscular - CP, Spina bifid a, SMA, DMD Idiopathic ```

Answer 53

``` Safety Emergency plan Avoid triggers AED Assessments Monitoring (phenytoin and phenobarb) CMZ Avoid drugs that aggravate Surgery Vagal stimulation Ketogenic diet ```

Answer 54

Bells intend to keep moving: Cerebellar lesions are associated with intention tremor. Opposite BallS: Hemiballismus is due to contralateral subthalamic nucleus lesion. Put at globe: Putamen / globus pallidus damage causes Atheosis 2 C's: Chorea is caused by Caudate nucleus lesion CP Drugs Tics Infection Trauma NAI AV malformation Autoimmune MS Seizure

Answer 55

Mnemonics for MSE: ASEPTIC ``` A- Appearance and Behaviour S- Speech E- Emotion [mood and affect] P- Perception [Hallucination and illusion] T- Thought content and process I- Insight and Judgement C- Cognition ``` Mnemonics for examination for cognition: GOAL-CRAMP ‘I’d like to start off by asking you a few questions to test your concentration and memory……….' G- general: Alertness and Co-operation O- orientation: Time and Place A- attention: WORLD backwards and Serial Sevens L- language: Naming and Repetition C- calculation: Division and Subtraction R- right Hemisphere Function: Intersecting pentagons and Clock-face A- abstraction: Proverbs and Similarities M- memory: Short term and Long-term memory P- praxis: Wave good-bye and Comb hair

Answer 56

3 at 3 and one second per year of age after that | Can skip at 5y

Answer 57

18m Mature pen grip by 5y

Answer 58

Bardt-biedl

Answer 59

Downs, Russell-silver, seckels, shwachmans

Answer 60

Eunuchoid habitus. Definition

Answer 61

Dolichostenomelia is a human condition or habitus in which the limbs are unusually long. The name is derived from Ancient Greek (dolichos - long, steno - short, narrow, close, melia - of the limbs). It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan Syndrome and homocystinuria.

Answer 62

Idiopathic Bell's palsy most common (unknown or viral) Trauma I.e. due to delivery traumas AV malformation Infective -EBV/Ramsay Hunt Iatrogenic Tumour/neoplastic (schwannoma) Congenital: Möbius syndrome, Goldenhar, Poland syndrome, pseudobulbar palsy, Arnold-chiari NMJ: MG, botulism Muscular: hereditary myopathies, such as myotonic dystrophy

Answer 63

Increased: Truncus, TAPD, TGA, (large L to R shunt, ASD, VSD, PDA) Decreased: TOF, Pulmonary atresia, TA, Ebsteins, critical PS

Answer 64

``` TA Hypoplastic R heart Ebsteins PA Complex congenital ```

Answer 65

HCM TGA anomalous left coronary artery

Answer 66

Endocardium cushion defect TA HCM Inlet VSD

Answer 67

``` Ebsteins TA PA with intact septum Truncus TOF large VSD ```

Answer 68

Turners, fetal alcohol, pseudopseudohypoparathyroidism Trauma, infection

Answer 69

Kallman s and hypopit

Answer 70

a rarely encountered condition that occurs mainly in males and is characterized by obesity, small testes, and a delay in the onset of puberty.

Answer 71

bx causes There are multiple causes including - CIRICCI Cystic fibrosis Infection with pertussis, measles, TB, adenovirus (7 &14) Recurrent infections or aspirations Less commonly Immune deficiency Ciliary dyskinesia Congenital abnormality of CT (→ obstruction →↑ infections) If localised areas of bronchiectasis Inhalation of foreign body

Answer 72

``` Quality of apex beat Quality Sustained – pressure overload in AS Forceful – LVH Thrusting – volume overload (MR/AR) or L→R shunt Parasternal heave – RVH ``` Palpable S2 = pulmonary hypertension

Answer 73

``` Appendiceal Abscess Tumors Wilms Neuroblastoma Hepatoblastoma HCC Teratoma Lymphoma Ovarian Cysts Renal Hydronephrosis Cystic disease Obstructed bladder ```

Answer 74

Alström syndrome

Answer 75

Ciliopathy | obesity, learning disability, renal anomalies, polydactyly, retinal dystrophy and hypogenitalism

Answer 76

The combination of obesity, somnolence (sleepiness), hypoventilation (underbreathing), and plethoric (red) face.

Answer 77

Severe ID short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.

Answer 78

Marcus Gunn pupil | Causes by optic nerve lesion, severe retinal disease, optic neuritis

Answer 79

It is bilateral small pupils that reduce in size on a near object (i.e., they accommodate), but do not constrict when exposed to bright light (i.e., they do not react to light). They are a highly specific sign of neurosyphilis; however, Argyll Robertson pupils may also be a sign of diabetic neuropathy. In general, pupils that accommodate but do not react are said to show light-near dissociation (i.e., it is the absence of a miotic reaction to light, both direct and consensual, with the preservation of a miotic reaction to near stimulus (accommodation/convergence).[1]

Answer 80

Johnston-Blizzard syndrome

Answer 81

Ortolani opens up lower limbs and Barlow bumps back

Answer 82

To look at structural integrity T2 to S1

Answer 83

Many conditions cause leukocoria including cataract, retinal detachment, retinopathy of prematurity, retinal malformation, coats disease, intraocular infection endophthalmitis), retinal vascular abnormality, and intraocular tumor (retinoblastoma).

Answer 84

Pellagra is a disease characterised by diarrhoea, dermatitis (scaly brown) and dementia. If left untreated, death is the usual outcome. It occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes

Answer 85

Chronic Kidney Disease

Answer 86

Interstitial pneumonitis leading to Lung fibrosis from oxidative damage

Answer 87

Bulbar palsy results from bilateral impairment of function of the IXth, Xth and XIIth cranial nerves. This gives rise to dysarthria, dysphagia (often with choking episodes and nasal regurgitation of fluids), dysphonia and poor cough, and susceptibility to aspiration pneumonia. The lowermost part of VII may, infrequently, be involved. The disturbance is of the motor nuclei rather than of the corticobulbar tracts. It is distinguished from pseudobulbar palsy by the presence of lower motor neurone signs. Autonomic features are uncommon. ``` Causes of bulbar palsy include: MND Guillain Barre syndrome poliomyelitis diphtheria myasthenia gravis neurosyphilis Tumour Stroke Syndromic or genetic ```

Answer 88

Carbamazepine Phenytoin Phenobarbitone Not valproate (unless suspect non compliance)

Answer 89

Hydrocephalus | Arnold chiari II

Answer 90

Monitor X-ray watch and see Brace or cast Surgery

Answer 91

Marfans superior intellect so superior | Homocysteinuria inferior

Answer 92

Absent corpus callosum

Answer 93

``` Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers. Bleeding tendency Pubertal delay Short AD ```

Answer 94

Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.

Answer 95

Impairment – residual limitation resulting from disease, injury or congenital defect Disability – Difficulties an individual may have in executing activities – inability to perform a functional skill Handicap – Problems an individual may experience in life situations – interaction of a disability with the environment

Answer 96

Right to left shunt at level of heart or great vessels | Inadequate oxygenation by kings

Answer 97

``` Coarctation repair PDA ligation BT shunt PA banding Thoracotamy ```

Answer 98

``` Congenital Embolisation Previous catheter Cervical rib BT shunt ``` Absent left could be from coarctation repair

Answer 99

Dyspraxia, ligamentous laxity, hypermobility (collagen disorder ethers-danlos and marfan), CP

Answer 100

``` CMT Fredereichs ataxia Neurological Trauma Orthopaedic Neuromuscular Spina bifida Diastometamyelia ```

Answer 101

HOCM AI and PDA

Answer 102

Age + 90/ age + 55

Answer 103

Cardiomegaly Scoliosis Pectus

Answer 104

Pulmonary HTN | Increased pulmonary flow from left to right shunt in ASD, VSD, PDA

Answer 105

X is a child with cyanotic/acyanotic repaired/unrepaired congenital/acquired heart disease There was a murmur: Timing and duration Intensity Pitch and quality Loudest Changes with position Radiated to Second heart sound No/ was Evidence of failure Differential diagnosis and investigations

Answer 106

Coarctation, Ps, PDA

Answer 107

Head to toe approach ``` Psychological Nasal polyps Respiratory infections and bronchiectasis Pancreatic failure and diabetes Bowel obstruction Liver (focal biliary) Reproductive fertility issues Pubertal delay Bone health (osteoporosis) Electrolyte imbalance ```

Answer 108

``` Hypothyroid BWS Mucopolysaccharoidoses Pompe Amyloid Downs is not true ```

Answer 109

``` Trauma to eye Corneal clouding (multiple causes) Glaucoma (assoc sturge weber) Uveitis Cataracts/lens dislocation ROP Retinoblastoma Retinitis pigmentosa Cherry red spots from metabolic disease Optic nerve neuritis or atrophy (Cp/septoopticdysplasia/tumour) Optic nerve pathology (such as glioma) Cerebral causes ```

Answer 110

``` DDH Trauma or surgery Arthritis Hemiparesis Osteogenesis imperfecta Henihypertrophy polyostotic fibrous dysplasia in MAS ```

Answer 111

``` NF TS Fanconi McCune Albright Ataxia telangiectasia RUssle silver Blooms Gaucheries Chediak-Higashi ```

Answer 112

Optic chasm compression

Answer 113

``` Third nerve palsy Cataracts corneal opacitoes, vitreous and retinal haemorrhage or detachment Infection iris and ciliary muscles Trauma Optic nerve pathology ```

Answer 114

Peripheral from trauma, tumour, infection (shingles) | Central cavernous sinus lesions, tumour, bulbar palsy, pseudobulbar palsy

Answer 115

Vestibular away from lesion Cerebellar towards side of lesion (Fast phase)

Answer 116

Triceps C7,8 Supination C5/6 Biceps C5/6 Knee L3/4 Ankle S1/2

Answer 117

``` Peripheral neuropathy Vincristine GBS Fredeichs ataxia CMT Hereditary neuropathy ```

Answer 118

Upper limb skeletal abnormalities and heart problem

Answer 119

Brachydactyly

Answer 120

Bulbar palsy (MND)

Answer 121

L – lentigines (multiple brown-black spots on the skin) E – electrocardiographic (ECG) conduction defects O – ocular hypertelorism P – pulmonary stenosis A – abnormalities of genitals R – retarded growth resulting in short stature D – deafness or hearing loss due to inner ear malfunction

Answer 122

``` congenital os odontoideum Down syndrome (20%) Morquio syndrome spondyloepiphyseal dysplasia osteogenesis imperfecta Marfan disease neurofibromatosis type 1 (NF1) arthritides rheumatoid arthritis psoriatic arthritis Reiter syndrome (reactive arthritis) ankylosing spondylitis systemic lupus erythematosus (SLE) acquired trauma retropharyngeal abscess / Grisel syndrome surgery upper respiratory tract infection ```

Answer 123

Kearns-Sayre syndrome triad includes onset in persons younger than 20 years, chronic, progressive, external ophthalmoplegia, pigmentary degeneration of the retina and cardiac problems

Answer 124

Mnemonic Great flow really would be perfect G: Glenn shunt superior vena cava to right pulmonary artery F: Fontan procedure inferior vena cava or right atrium to right pulmonary artery R: Rastelli procedure right ventricle to main pulmonary artery W: Waterston shunt ascending aorta to right pulmonary artery B: Blalock-Taussig shunt subclavian artery to pulmonary artery P: Pott shunt descending thoracic aorta to left pulmonary artery

Answer 125

``` Exudate: CT diseases, pneumonia, TB, drugs and radiation Transudate: Low albumin Low thyroid Low cardiac output in failure ```

Answer 126

Congenital and acquired Congenital: PCD, CF, immune deficiency Acquired: infective, FB, TB

Answer 127

B vitamin deficiencies esp B12 Folate Iron Geographical tongue by def B vitamins

Answer 128

``` Ocular changes/signs of anaemia Clubbing CLD - cirrhosis/PSC Gallstones and renal stones Arthritis Skin manifestations ``` Complications: of treatment, mega colon, bleed or perforation, cancer

Answer 129

``` Cirrhosis Veno oclusive disease CHF Constrictive pericarditis TB Pancreatic Nephrotic syndrome ```

Answer 130

``` Important not to miss: Cancer Abscess AAA BO ``` Common: Constipation Bladder enlargement Organomegaly ``` Other: Transplanted kidney Gastric mass Ovarian cyst Hernia Uterus causes ``` B

Answer 131

``` MND (SMA) Motor root compression Peripheral neuropathy Primary myopathy Thyrotoxicosis ```

Answer 132

Cerebellar Proprioception UMN pyrimidial weaknss

Answer 133

``` Common peroneal nerve palsy CMT L4/L5 lesion Stroke Distal myopathy MS Muscular dystrophy Peripheral motor neuropathy ```

Answer 134

A waddling gait is the style of walking that is seen in a patient with proximal myopathy. It is characterised by: a broad-based gait with a duck-like waddle to the swing phase the pelvis drops to the side of the leg being raised forward curvature of the lumbar spine marked body swing This gait may also be seen in patients with congenital hip dislocation and pregnancy.

Answer 135

1.7 at birth 1 by age 10 0.8 by puberty

Answer 136

Observe Conservative - physiology and exercises, chair adjusted, bracing Surgical

Answer 137

Assess current control with reviewing investigations and BSL record - may need to alter insulin regime Survellience for complications Ongoing education everyone involved including safety with alcohol, avoid smoking Diet and exercise discussed Sick day management, hypoglycaemia plan and travel plan (letters, contacts,supplies) Medic alert Health optimisation with vaccinations Psychosocial support with diabetes youth groups diabetesyouth.org.nz Diabetes NZ Transition plan

Answer 138

Retinopathy and diabetic nephropathy [urine sample, ophthalm] yearly from 5 years after diagnosis or from 10 years or 2 years after diagnosis in adolescent BP yearly Lipids checked 5 yearly or from 12 years or annually after puberty Yearly FT and coeliac screen for 5 years then 2 yearly Neuropathy, joint and skin problems, CV risk

Answer 139

Medical treatment with steroids Survellience and management of complications: - mood and behaviour - Rarely have cognitive impairment - wisckott score to identify areas requiring assistance and strengths, individualised learning plan for appropriate assistance with educational and physical needs - Cardiomyopathy Echocardiogram treat failure - respiratory nocturnal failure/polysomnography - bipap - Contractures and scoliosis - passive and active exercises physiotherapy assisted programmes OT assisted supports and equipments and review suitability of home environment Orthotics and surgery - Nutrition with exercise and diet advice Other: - end of life and palliative (life limiting illness) support from MDA for coping grief and loss - Steroid side effects - Avoid smoke and treat infections aggressively - avoid patronising and overprotective - workbridge can assist with vocation planning - parent project muscular dystrophy - Nzord.org.nz

Answer 140

``` Alleviate feelings of fear or guilt Spend quality time and attention one on one Include in family decision making Relieve care burden Give meaningful responsibilities in family Honesty Compassion Respect ```

Answer 141

1. Keep it private Ensure your child keeps their profile and online friends private. Most social networking sites and other technologies (such as chat rooms) have both private and open/public settings. They should also avoid divulging personal information, including identifying photographs, to anyone they don't already know. Ensure they understand that once posted/uploaded, content is non-retractable and will be part of their permanent record online. Someone, somewhere will always find it. 2. Keep it friendly Cyber-bullying is poised to turn into the biggest online concern, already affecting up to 35% of all children*. Ensure your child knows what to do when they encounter cyber-bullying (Stop, Block and Tell!), and who to report it to - make sure you are on their list! 'Think before you send' is a great online rule for your child to live by. Ask them to think about the potential consequences to themselves and others of every video uploaded, every comment, every text, every email. 3. Keep it online Ensure your child only ever meets online friends for the first time in the company of yourself or a trusted adult. Ensure your child never, ever organises to meet an online friend face-to-face for the first time on their own - no exceptions. 4. Keep it locked Make sure your child's mobile phone uses a PIN, so when lost or stolen it can't be used to auto-sign into their online profiles (auto-sign-on is where a website auto-remembers a password). If in doubt, ask to set their Bluetooth-enabled phone to 'undiscoverable' - otherwise strangers can potentially access your children's phone and its data. 5. Keep it real Children find the internet an easier place to explore their identity, to challenge adult norms and boundaries, experiment with relationships and practice a range of behaviours. But many of the consequences of these things are amplified online. Reinforce strong and positive personal and societal values and behaviours online. Help build resilience in your child to what they will undoubtedly come across on the internet: inappropriate content and cyber-bullying. Make sure they know how to handle themselves online.

Answer 142

1. Active partnership 2. Highlight strengths and positive family experiences 3. Review methods of coping Enlist individual support fm friends, family, clergy, community Offer information and websites to connect with other families and support groups

Answer 143

Medical: Education and plan including written materials Health maintenance: Vaccinations and penicillin prophylaxis Blood transfusions Hydroxyurea to increase HbF Stem cell Psychosocial Follow up Complications screen: Infection, infarction, splenic sequestration, aplastic crisis, priapism, haematuria, anaemia, jaundice, splenomegaly, carsiomegaly, enuresis, cholelithiasis, delay growth and puberty, restrictive lung, pulm HTN, avasular necrosis, proliferators retinopathy, leg ulcers, transfusion iron overload

Answer 144

CAST ICE ``` Confirm Assess Set treatment goals Treat Include others in MDT Prevention and survellience of complications/triggers Ensure follow up ```

Answer 145

Culturally appropriate family centred care working in partnership as the advocate and health coordinator to maximise health function, development, and family functioning

Answer 146

Normal variant - constitutional delay - familial Disproportionate - skeletal dysplasias - metabolic Bone disease - radiation Proportional congenital or acquired - chromosomal, syndrome (Noonan, Russell silver, PWS), adverse psychosocial, drugs, malnutrition, chronic disease, endocrine such as GH def, hypothyroidism, Cushings

Answer 147

Confirm information with history including family history and psychosocial screen, perinatal hx, feeding and growth ``` Investigate FBC, inflammatory markers, electrolytes urea and creatinine, coeliac screen, Arafat, karyotupe, bone age IGF-1, IGF-BP3 GH provocation test Neuroimaging ``` Manage cause and ensure adequate nutrition and induce puberty or use GH (leg lengthening) Follow up with monitoring growth in 6 months and Establishing growth velocity

Answer 148

``` neurofibromatosis type 1 and 2 McCune Albright syndrome ataxia telangiectasia fanconi anemia Russell-silver syndrome Tuberous sclerosis Gaucher disease Chediak – Higashi syndrome Turner syndrome Proteus syndrome Legius syndrome LEOPARD Bloom syndrome ```

Answer 149

``` CLUBBING Mostly cardio/respiratory: Congenital Cyanotic heart disease or reversal L to R shunt or eisenmenger complex/atrial myxoma Lung: Abscess Bronchiectasis CF (Don't say asthma) Empyema Fibrosis ``` UC/CD (IBD) Biliary cirrhosis usually or other cirrhosis cause or chronic hepatitis Birth defects/familial IE Neoplasm GI malabsorption (coeliac) Other: thyroid acropatchy/TB/sickle cell/pulm AV malformation

Answer 150

Distribution and course of disease (degeneration or static) Investigations: Rule out sepsis and electrolyte imbalance (mg and ca), left, urine drug screen, TFT, TORCH, EEG prognosis, CK, MRI, metabolic tests Causes: central (cerebral due to HIE, haemorrhage, malformation, chromosomal, syndrome (Lowe), peroxisomal - zellweger and adrenal leukodystophies, metabolic like pompe, drug) and peripheral causes (including muscle myopathies and dystrophies, neuromuscular junction (botulism MG), peripheral n (CMT) anterior horn cell (SMA)) ``` Management: Monitor contracture/hip dislocation Swallow/feeding safety (oro-motor dysfunction) Reflux Respiration and overnight oximetry Syndromes associations ```

Answer 151

CV: High lipids, HTN, LVH, Risk heart disease stroke Respiratory: sleep disordered breathing, Sleep apnoea, asthma Renal GIT: Non alcoholic fatty liver disease, Gallstones, GORD Orthopaedic: SUFE, Risk degenerative joint disease Haem: Thrombus Surgical: Hernia Endocrine: dm2, Precocious puberty, PCOS Neuropsych: Pseudotumor cerebri, psychosocial, negatively affects school performance

Answer 152

``` CHIMPS CT d/o Haematological Infective and infiltrative Metabolic Parenchymal (cardiac fluid overload) Systemic ```

Answer 153

``` Don't forget hep b at the FLAP JAP SEX CLUB Hepatic flap Jaundice Ascites/atrophy testicles with gunaecomastia/anaemia Palmar erythema Spider naevi Encephalopathy Xanthelasma Clubbing/colour change nails ```

Answer 154

HURLERS a mucopolysaccharoidosis (lysosomal disorder) ``` HSM Unusual facial features Recessive Liduronidase def Eyes clouded Retardation Short stubby fingers ```

Answer 155

``` MVP Aortic aneurysm Retinal detachment Fibrillin gene on chromosome 15 Arachnodactyly PNeumothraces Skeletal abn ```

Answer 156

Overeating and under activity Drugs Cushing Genetic such as prader willi

Answer 157

CUSHINGOID MAP Cataracts/ Cushing moon face and buffalo hump (interscspjlar adiposity) Ulcers - ulcers and duodenal Skin striae, thin, bruise HTN hirsutism hyperglycaemia heart failure InfectionsImmunosuppressive with poor wound healing Necrosis (avascular necrosis femoral head) Glycosuria/growth (short) Osteoporosis/obesity ICP pseudotumour cerebri Diabetes/ glucose intolerance Myopathy (proximal) mood Acne fat/ adrenal (suppressed hypothesis-pit-axis) Pancreatitis psychosis/behavioural

Answer 158

Megalencephaly (large brain) Hydrocephalus - communicating and noncommunicating choroid plexus papilloma increases production Hyperostosis (bone overgrowth): bossing - osteogenesis imperfecta, chronic haemolytic anaemia, rickets, achondroplasia Familial Sturg-Weber/NF1/TS/sotos/weaver/Noonan/Costello/gorlin Fragile x, leukodystrophies, metabolic Tumour abscess NAI AV malformation great vein of Galen (bruit temporal areas..) (Autism kids 25% have this)

Answer 159

Genetic: trisomies: downs, Edward, patau, deletions 4p (wolf-hirschhorn) and 5p (cri-du-chat), 22q11 and 7q11.23 (Williams), smith-Leslie-opitz, Cornelia de lange, rett, Nijmegen breakage, ataxia telangiectasia Stroke/trauma/cerebral injury TORCH zika Fetal hydantoin or alcohol syndrome Perinatal insult Inborn error of metabolism Other: lead, chronic renal failure, anaemia, hypothyroid, congenital heart disease, malnutrition Rett syndrome decelerated growth acquired microcephaly

Answer 160

Familial Constitutional delay Idiopathic Endocrine - hypopit, GH def, hypothyroid, pSeudohypoparathyroidism, CAH, Cushing ``` Chronic disease - anaemia, endocrine: hypothyroid, GIT: coeliac/IBD, renal and liver GH deficiency (order IGF-1) ``` Syndrome - Genetic such as turners syndrome, others like downs syndromes Skeletal dysplasia - Chondrodystrophy (achondroplasia) Scoliosis Side effects of Drugs - chronic steroid use, ADHD meds, anticonvulsants, radiotherapy IUGR Nutritional deficiency Schwachman-diamond syndrome Klippel-Fiel Seckel syndrome

Answer 161

``` Familial or normal variant obesity Klinefleter Marfan Precocious puberty Kallman Proteus syndrome MEN2B NF1 Fragile x Sotos Weaver BWS Homocysteinuria Hyperthyroidism GH excess, acromegaly McCune Albright Hyperthyroidism ```

Answer 162

Father + mother +/- 13cm | Divided by 2 (+/- 10cm)

Answer 163

Galant Swimming Parachute

Answer 164

Haemolysis (G6PD) Haemoglobinopathies Infection/inflammation Reduced clearance: Gilbert's, crigler-najjar, hypothyroid Biliary atresia/allagile/choledochal cyst Metabolic (galactosemia and tyrosinaemia) Sepsis TPN related

Answer 165

Hyperplasia: due to haemolysis Infiltrative: such as amyloid or sarcoidosis Congestive: (portal HTN from cirrhosis) Neoplastic: such as ALL/lymphoma Storage:such as gaucher hurler Neiman pick Infections: (EBV CMV malaria) Autoimmune

Answer 166

Connors scale Teacher report Educational psychology assessment

Answer 167

Haemochromatosis can cause deposits anywhere ``` Hypogonadism Cancer Cirrhosis Cardiomyopathy DM Arthropathy ```

Answer 168

Cardiovascular: CHD especially endocaridal cushion defects/AVSD Respiratory: sleep disordered breathing Gastrointestinal: hirsprungs, atresia, coeliac, constipation Endocrine: Thyroid dysfunction, obsess the risk Genitourinary: Musculoskeletal: Hip abnormalities, Atlanto-axial instability, scoliosis Neurological: seizures, psychiatric such as depression, Alzheimer's after 35y, abuse Immune-Haematological: Leukaemias/ immune dysfunction, iron deficiency Dermatological Eye disease: cataracts and refractive errors Hearing/ENT: serous otitis media, hearing impairment

Answer 169

Prenatal: chromosomal - trisomy, fragile x, 22q11 deletion, genetic - TS, metabolic, syndromic - Williams, Prader-Willi, Cornelia de Lange, infections TORCH, toxins and drugs and major structural abnormalities Perinatal: HIE, stroke, trauma, infection, hypoglycaemia Post-natal: Injury, infection, poisoning

Answer 170

1-6 4 = thrill 5 = heard with stethoscope just on skin 6 = heard without stethoscope

Answer 171

``` PDA Operative Shunt murmur AV fistula Ruptured sinus of valsava Severe coarctation Left coronary artery origin from pulmonary artery anomaly Anomalies of origin of the pulmonary artery Truncus ``` - aortic-pulmonary communications - arteriovenous communications (fistulas) - changes in arterial flows - changes in veins flows

Answer 172

VSD MR TR ``` Continuous murmur: PDA Venous hum CoA Surgical shunt such as BT AV fistulae ```

Answer 173

AR PR TS MS

Answer 174

- asthma and regularly use a preventer medication (brown, orange, red or purple inhaler)? - under 5 years and has a significant respiratory illness or been in hospital for a respiratory illness (such as pneumonia, bronchiolitis, asthma)? does your child have a heart condition (such as congenital heart disease or rheumatic heart disease)? does your child have cancer? does your child have an ongoing chest (respiratory) condition, such as bronchiectasis or cystic fibrosis? does your child have diabetes? does your child have ongoing kidney (renal) disease? does your child have HIV or AIDS, an auto-immune disease or another immune deficiency? Flu immunisation is also recommended for those sharing a house with children and young people with long term (chronic) medical conditions. The flu spreads rapidly within households and children are particularly efficient spreaders. It may not be free for household members - they could ask their employer about free or subsidised flu immunisation as many employers offer this to their employees. Flu immunisation is free for some adults; for example, all those over 65 years of age and those with certain long term conditions. Flu immunisation is recommended and free to pregnant women Flu immunisation offers protection in pregnancy. Flu is likely to be more severe in pregnancy and can affect the mother and the unborn baby. Immunisation also offers some protection to the newborn baby.

Answer 175

1. Neurogenic: - third nerve palsy, - horners syndrome 2. Myogenic: - myasthenia gravis, - myopathy, - myotonic dystrophy, - congenital 3. Mechanical - trauma - eyelid oedema - inflammation of eyelid - neoplastic 4. Neurotoxic: - envenomation - chronic opioid abuse

Answer 176

Causes - Lifestyle (sedentery, diet) - metabolic: Cushings, hypothyroidism - inherited - drugs: antipsychotics, antiepileptics, HAART Consequences: - Accelerated atherosclerosis - Dyslipidaemia - diabetes - hypertension - sleep disordered breathing - restrictive ventilation defects - fatty liver - FSGS - Osteoarthritis - Psychological Management - lifestyle factors initially (evidence for short term LOW) - Diet: low fat, low calories< 1500kcal, low salt<2g - exercise: mod workload for 30mins most days of the week - involve dietitian, family, exercise trainer - Review regularly, aiming weight loss of 10-15% - Pharmacological therapy (limited benefit): orlistat (fat binder, Cx GIT/steatorrhoea), fentomene (appetite suppressant Cx cardiomyopathy), topiramate (off label), metformin (if have insulin resistance) - bariatric surgery (evidence for long term weight loss): lap banding, sleeve gastrectomy, gastric bypass

Answer 177

- Hereditary muscular dystrophy - Congenital myopathies - rare - Acquired: PACE, PODS - ---polymyositis, dermatomyositis - --alcohol - --Carcinoma - --Endocrine (hypothyroid, hyperthyroid, Cushings, Acromegaly, hypopituitarism) - --Periodic paralysis - --Osteomalacia - --Drugs (chloroquine, steroids, statins, fibrates) - --Sarcoid - --Myasthenia Gravis

Answer 178

History: - diet intake - nutritional quality of food: red meat, vegetables, protein, dairy products - appetite intake - dysphagia - malabsorptive symptoms - comorbidities, chronic illness - cognitive and functional affects Examination: - BMI, waist circumference - Fe deficiency: pallor, koilonychia, angular stomatitis - B12: atrophic glossitis, peripheral neuropathy, pallor - Thiamine - dementia, Wernicke, kosakoff - Vit D - osteomalacia/osteoporosis - folate - pallor - Vitamin A: poor eyesight peripheral neuropathy, osteoporosis, osteomalacia, dementia, visual distrubance

Answer 179

- non pulsatile - double flicker - moves with respiration (falls with inspiration) - moves with position - accentuates with hep

Answer 180

Ethers danlos (bruises and scars) Marfans Osteogenesis imperfecta

Answer 181

Gaits ``` Circumduction Hemiplegia Wide-based Cerebellar Hip joint abnormality Weakness or hypotonia of legs or pelvic girdle Waddling Proximal myopathies Foot drop (CMT) ```

Answer 182

Signs of chronic liver disease (ABCDEFGHIJ) ``` Asterixis, Ascites, Ankle oedema, Atrophy of testicles Bruising Clubbing/ Colour change of nails (leuconychia) Dupuytren’s contracture Encephalopathy / palmar Erythema Foetor hepaticus Gynaecomastia Hepatomegaly Increase size of parotids Jaundice ```

Answer 183

(HaemoChromatosis Can Cause Deposits Anywhere) ``` Hypogonadism Cancer (hepatocellular) Cirrhosis Cardiomyopathy Diabetes mellitus ```

Answer 184

``` Biceps stretch reflex (C5) Brachioradialis reflex (C6) Triceps stretch reflex (C8) Patellar reflex or knee-jerk reflex (L3) Achilles reflex (S1) Plantar reflex or Babinski reflex (S1) ```

Answer 185

0/5: no contraction 1/5: muscle flicker, but no movement 2/5: movement possible, but not against gravity (test the joint in its horizontal plane) 3/5: movement possible against gravity, but not against resistance by the examiner 4/5: movement possible against some resistance by the examiner (sometimes this category is subdivided further into 4–/5, 4/5, and 4+/5) 5/5: normal strength

Answer 186

``` SLT to promote oro-motor function Behavioural intervention Bibs Pharmacological options Hyoscine q6h po Hyoscine Patch q72/24 Dental intervention Surgical Botulium toxin A ```

Answer 187

Hepatic VCPBT: ``` Hepatic encephalopathy Esophageal varices Portal hypertension Ascites Thrombosis of portal vein Infection Carcinoma ``` ``` Vitamin deficiencies Coagulopathy Pruritis Bile salt build up Transplant issues ```

Answer 188

Pancreatic enzymes amylase protease lipase

Answer 189

1) Patient → teaching assertiveness skills and confidence building 2) Parent • Source of support for child if having problems • Act as advocate for the child to liase with the school 3) School • Acknowledge problem exists • Establish support mechanisms for students (assigned group of staff) • Anti-bullying policies • Education in classroom (organise project on bullying • Not tolerate bullying @ school • Provision of counsellors or local psychologists Whole School Approaches / Intervention Programmes: Kia Kaha, Police Youth Education Services Resource Kit. Contact your local police education officer at the nearest Police Station. Keeping Ourselves Safe, Police Youth Education Services Resource Kit. Contact your local police education officer at the nearest Police Station. Eliminating Violence Managing Anger, contact your local Specialist Education Services, Internet: http://www.ses.org.nz Helplines / Advice Agencies 0800 NO BULLY (0800 66 28 55). An automated phone helpline that offers advice for pupils who are being bullied. Developed and supported by the New Zealand Police and Telecom New Zealand Limited. The Police / Telecom "Stop Bullying" websitehttp://www.nobully.org.nz offers practical advice and gives some excellent links to other anti-bullying sites. New Zealand Children Young Persons and Their Families Service (see phone book blue pages Government Phone Listings for local number). Mental Health Foundation, refer to your local Health Authority. Youthline, phone 0800 376 633. • Lifeline: 0800 543 354 (available 24/7) * Suicide Crisis Helpline: 0508 828 865 (0508 TAUTOKO) (available 24/7) * Youthline: 0800 376 633 * Kidsline: 0800 543 754 (available 24/7) * Whatsup: 0800 942 8787 (Mon-Fri 1pm to 10pm. Sat-Sun 3pm-10pm) * Depression helpline: 0800 111 757 (available 24/7) * Rainbow Youth: (09) 376 4155 * Samaritans 0800 726 666

Answer 190

3. Placing, stepping (both from birth to 6 weeks). 4. Landau re ex, a two-stage re ex. With the child supported prone (with your hand under the abdomen), the child should (normally) extend head, trunk and hips. is is the rst, and more important, stage. Next, ex the head and neck; normally the response is exion of trunk and hips, but this is less constant than the rst stage ( rst stage from 4 months, plus second stage from 9 months; gone by 2 years). 5. ATNR. With the child supine, the head is rotated to one side. A ‘fencing’ posture develops, with extension of the ipsilateral upper and lower limb (i.e. the side towards which the head is turned) and exion of the opposite side (2–6 months). Persistence beyond 6 months is indicative of upper motor neurone problems, especially CP. Maintaining the ATNR posture throughout the time that the head is held turned, such that the child cannot ‘break’ from that position, is similarly signi cant. 6. Neck-righting re ex. Rotation of the trunk to conform with the position of the head when the head is rotated to one side (6 months to 2 years). 7. Moro re ex (birth to 4 months). As with most primitive re exes, persistence beyond the usual time of disappearance is pathological. Make a point of focusing not only on the limb movements but also the facial response, for asymmetry (e.g. in hemiplegic CP). 8. Parachute re ex. With the infant held in the prone position, move him or her rapidly, face downwards, towards the oor. e normal reaction is to extend both upper limbs as if to break the fall (appears between 6 and 12 months, usually at 9 months, and persists; its absence beyond 12 months is abnormal). Asymmetry occurs with hemiplegia.

Answer 191

``` CMT Frederich ataxia (spinocerebellar degeneration) ```

Answer 192

Floppy weak: SMA, congenital myotonic dystrophy, congenital myopathy, werdnig-Hoffman Floppy strong: downs, hypotonic CP

Answer 193

Idiopathic Paralytic (neuromuscular) Bony or ligamentous (CT disorders)

Answer 194

Xenografts - porcine and bovine | Allograft - cadaveric or auto

Answer 195

``` Congenital HTN Infective Idiopathic Toxin (chemo) Infiltration - amyloid, sarcoidosis, metabolic, haemochromatosis Endocrine Hypothyroidism and acromegaly CTD Ischaemic ```

Answer 196

``` Congenital heart disease Valvular Arrhythmia Ischaemic High output state: anaemia, thyrotoxicosis, Av fistula.. ```

Answer 197

AS PS Hypertrophic cardiomyopathy ASD

Answer 198

Prehepatic: CHf, Budd-Chiari syndrome, IVC obstruction Hepatic: decompensated cirrhosis with portal HTN Nephrotic, TB, chylous, pancreatitis

Answer 199

Iron def, B12 and folate def

Answer 200

Congenital, MG, Myotonic dystrophy, thyrotoxicosis, horners, third nerve palsy

Answer 201

UMN | LMN: bells, OM, acoustic neuroma, meningioma, MS, fracture, Ramsey hunt, parotid enlargement, vascular

Answer 202

Sensory neuropathy

Answer 203

``` Congenital such as CMT Vascular/vasculitis Infectious/inflam - GBS/transverse myelitis, syphillis, botulism, Lyme Trauma Autoimmune MS Metabolic - DM, thyroid, uraemia, vit B12/E, B1 and B6 def Iatrogenic/ idiopathic Neoplastic - A B C Drugs - vincristine, lead ```

Answer 204

CommonPerineal nerve palsy, sciatic nerve palsy, lumbosacral plexus lesion, L4/L5 lesion, PMN, distal myopathy, spinal cord lesion

Answer 205

``` Prader-willi Alstrom Cohen Albrights Carpenter Rubinstein-taybi Fragile x Lawrence moon bardet biedl ```

Answer 206

Pain and temp is spinothalamic pathway | Proprioception/vibration is dorsal columns

Answer 207

Renal artery stenosis, phaeo, coarct, neurofibromas, essential

Answer 208

Waddle weakness in proximal myopathy and wide in cerebellar

Answer 209

Dorsal column pathology

Answer 210

1: explore and fix cause eg smell or drooling 2: increase self esteem highlight strengths and increase support peers and family home environment and 'buddy' or mentor at school and adult he can trust to report to 3: school policy, avoid situations that exacerbate or change schools, karate or other activity to help 4. list some immediate things your child can do when the bullying happens. For example: first, ignore the bullying behaviour. If that doesn’t work, tell the person to stop. If the bullying continues, walk away. Tell someone. 5. Books on bullying or website WHATSUP Cyber bullying may need restrict websites/internet use, kia kaha police programme safety in schools 6. Regularly check in with child and reassure that telling them is the right thing

Answer 211

500ml-2L per day Overproduction or inability to swallow Complications are social implications and embarrassment of pt and family, skin irritation, frequent bib and clothes change, smell, increased risk aspiration, choking and coughing episodes Mx: Saliva clinic SSH Medications - anticholinergics such as atropine and glycopyrolate Behavioural modifications and physical therapy (positioning and seating) Oromotor rehabilitation / therapy by Speech Therapist (increase sucking - straw) and increase oral awareness Orthodontic treatment Improvement of nasal and oral airway patency - Otolaryngology (ENT) Catellio moreles prosthesis Surgery to the salivary glands - side effect dry mouth and dental problems Botox injection to submandibular / parotid glands No treatment but use waterproof bib or clothes

Answer 212

Inadequate intake, neglect Malabsorption Increased energy use or demands

Answer 213

Eliminate cause if can - tubes, reflux, nausea Educate Introduce food early age and make it fun, fa,ily meals Monitor growth Monitor dentition

Answer 214

SCOLI ``` Syndrome NF1 marfans Congenital Orthopaedic (leg length) Low and high tone neuromuscular - CP, Spina bifid a, SMA, DMD Idiopathic ```

Answer 215

``` Safety Emergency plan Avoid triggers AED Assessments Monitoring (phenytoin and phenobarb) CMZ Avoid drugs that aggravate Surgery Vagal stimulation Ketogenic diet ```

Answer 216

Bells intend to keep moving: Cerebellar lesions are associated with intention tremor. Opposite BallS: Hemiballismus is due to contralateral subthalamic nucleus lesion. Put at globe: Putamen / globus pallidus damage causes Atheosis 2 C's: Chorea is caused by Caudate nucleus lesion CP Drugs Tics Infection Trauma NAI AV malformation Autoimmune MS Seizure

Answer 217

Mnemonics for MSE: ASEPTIC ``` A- Appearance and Behaviour S- Speech E- Emotion [mood and affect] P- Perception [Hallucination and illusion] T- Thought content and process I- Insight and Judgement C- Cognition ``` Mnemonics for examination for cognition: GOAL-CRAMP ‘I’d like to start off by asking you a few questions to test your concentration and memory……….' G- general: Alertness and Co-operation O- orientation: Time and Place A- attention: WORLD backwards and Serial Sevens L- language: Naming and Repetition C- calculation: Division and Subtraction R- right Hemisphere Function: Intersecting pentagons and Clock-face A- abstraction: Proverbs and Similarities M- memory: Short term and Long-term memory P- praxis: Wave good-bye and Comb hair

Answer 218

3 at 3 and one second per year of age after that | Can skip at 5y

Answer 219

18m Mature pen grip by 5y

Answer 220

Bardt-biedl

Answer 221

Downs, Russell-silver, seckels, shwachmans

Answer 222

Eunuchoid habitus. Definition

Answer 223

Dolichostenomelia is a human condition or habitus in which the limbs are unusually long. The name is derived from Ancient Greek (dolichos - long, steno - short, narrow, close, melia - of the limbs). It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan Syndrome and homocystinuria.

Answer 224

Idiopathic Bell's palsy most common (unknown or viral) Trauma I.e. due to delivery traumas AV malformation Infective -EBV/Ramsay Hunt Iatrogenic Tumour/neoplastic (schwannoma) Congenital: Möbius syndrome, Goldenhar, Poland syndrome, pseudobulbar palsy, Arnold-chiari NMJ: MG, botulism Muscular: hereditary myopathies, such as myotonic dystrophy

Answer 225

Increased: Truncus, TAPD, TGA, (large L to R shunt, ASD, VSD, PDA) Decreased: TOF, Pulmonary atresia, TA, Ebsteins, critical PS

Answer 226

``` TA Hypoplastic R heart Ebsteins PA Complex congenital ```

Answer 227

HCM TGA anomalous left coronary artery

Answer 228

Endocardium cushion defect TA HCM Inlet VSD

Answer 229

``` Ebsteins TA PA with intact septum Truncus TOF large VSD ```

Answer 230

Turners, fetal alcohol, pseudopseudohypoparathyroidism Trauma, infection

Answer 231

Kallman s and hypopit

Answer 232

a rarely encountered condition that occurs mainly in males and is characterized by obesity, small testes, and a delay in the onset of puberty.

Answer 233

bx causes There are multiple causes including - CIRICCI Cystic fibrosis Infection with pertussis, measles, TB, adenovirus (7 &14) Recurrent infections or aspirations Less commonly Immune deficiency Ciliary dyskinesia Congenital abnormality of CT (→ obstruction →↑ infections) If localised areas of bronchiectasis Inhalation of foreign body

Answer 234

``` Quality of apex beat Quality Sustained – pressure overload in AS Forceful – LVH Thrusting – volume overload (MR/AR) or L→R shunt Parasternal heave – RVH ``` Palpable S2 = pulmonary hypertension

Answer 235

``` Appendiceal Abscess Tumors Wilms Neuroblastoma Hepatoblastoma HCC Teratoma Lymphoma Ovarian Cysts Renal Hydronephrosis Cystic disease Obstructed bladder ```

Answer 236

Alström syndrome

Answer 237

Ciliopathy | obesity, learning disability, renal anomalies, polydactyly, retinal dystrophy and hypogenitalism

Answer 238

The combination of obesity, somnolence (sleepiness), hypoventilation (underbreathing), and plethoric (red) face.

Answer 239

Severe ID short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.

Answer 240

Marcus Gunn pupil | Causes by optic nerve lesion, severe retinal disease, optic neuritis

Answer 241

It is bilateral small pupils that reduce in size on a near object (i.e., they accommodate), but do not constrict when exposed to bright light (i.e., they do not react to light). They are a highly specific sign of neurosyphilis; however, Argyll Robertson pupils may also be a sign of diabetic neuropathy. In general, pupils that accommodate but do not react are said to show light-near dissociation (i.e., it is the absence of a miotic reaction to light, both direct and consensual, with the preservation of a miotic reaction to near stimulus (accommodation/convergence).[1]

Answer 242

Ortolani opens up lower limbs and Barlow bumps back

Answer 243

To look at structural integrity T2 to S1

Answer 244

Many conditions cause leukocoria including cataract, retinal detachment, retinopathy of prematurity, retinal malformation, coats disease, intraocular infection endophthalmitis), retinal vascular abnormality, and intraocular tumor (retinoblastoma).

Answer 245

Pellagra is a disease characterised by diarrhoea, dermatitis (scaly brown) and dementia. If left untreated, death is the usual outcome. It occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes

Answer 246

Chronic Kidney Disease

Answer 247

Interstitial pneumonitis leading to Lung fibrosis from oxidative damage

Answer 248

Bulbar palsy results from bilateral impairment of function of the IXth, Xth and XIIth cranial nerves. This gives rise to dysarthria, dysphagia (often with choking episodes and nasal regurgitation of fluids), dysphonia and poor cough, and susceptibility to aspiration pneumonia. The lowermost part of VII may, infrequently, be involved. The disturbance is of the motor nuclei rather than of the corticobulbar tracts. It is distinguished from pseudobulbar palsy by the presence of lower motor neurone signs. Autonomic features are uncommon. ``` Causes of bulbar palsy include: MND Guillain Barre syndrome poliomyelitis diphtheria myasthenia gravis neurosyphilis Tumour Stroke Syndromic or genetic ```

Answer 249

Carbamazepine Phenytoin Phenobarbitone Not valproate (unless suspect non compliance)

Answer 250

Hydrocephalus | Arnold chiari II

Answer 251

Monitor X-ray watch and see Brace or cast Surgery

Answer 252

Marfans superior intellect so superior | Homocysteinuria inferior

Answer 253

Absent corpus callosum

Answer 254

``` Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers. Bleeding tendency Pubertal delay Short AD ```

Answer 255

Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.

Answer 256

Impairment – residual limitation resulting from disease, injury or congenital defect Disability – Difficulties an individual may have in executing activities – inability to perform a functional skill Handicap – Problems an individual may experience in life situations – interaction of a disability with the environment

Answer 257

Right to left shunt at level of heart or great vessels | Inadequate oxygenation by kings

Answer 258

``` Coarctation repair PDA ligation BT shunt PA banding Thoracotamy ```

Answer 259

``` Congenital Embolisation Previous catheter Cervical rib BT shunt ``` Absent left could be from coarctation repair

Answer 260

Dyspraxia, ligamentous laxity, hypermobility (collagen disorder ethers-danlos and marfan), CP

Answer 261

``` CMT Fredereichs ataxia Neurological Trauma Orthopaedic Neuromuscular Spina bifida Diastometamyelia ```

Answer 262

AEIOU ``` ASD Ebsteins Infective (RF) Open heart or atrial surgery Unknown ```

Answer 263

HOCM AI and PDA

Answer 264

Age + 90/ age + 55

Answer 265

Cardiomegaly Scoliosis Pectus

Answer 266

Pulmonary HTN | Increased pulmonary flow from left to right shunt in ASD, VSD, PDA

Answer 267

X is a child with cyanotic/acyanotic repaired/unrepaired congenital/acquired heart disease There was a murmur: Timing and duration Intensity Pitch and quality Loudest Changes with position Radiated to Second heart sound No/ was Evidence of failure Differential diagnosis and investigations

Answer 268

Coarctation, Ps, PDA

Answer 269

Head to toe approach ``` Psychological Nasal polyps Respiratory infections and bronchiectasis Pancreatic failure and diabetes Bowel obstruction Liver (focal biliary) Reproductive fertility issues Pubertal delay Bone health (osteoporosis) Electrolyte imbalance ```

Answer 270

``` Hypothyroid BWS Mucopolysaccharoidoses Pompe Amyloid Downs is not true ```

Answer 271

``` Trauma to eye Corneal clouding (multiple causes) Glaucoma (assoc sturge weber) Uveitis Cataracts/lens dislocation ROP Retinoblastoma Retinitis pigmentosa Cherry red spots from metabolic disease Optic nerve neuritis or atrophy (Cp/septoopticdysplasia/tumour) Optic nerve pathology (such as glioma) Cerebral causes ```

Answer 272

``` DDH Trauma or surgery Arthritis Hemiparesis Osteogenesis imperfecta Henihypertrophy polyostotic fibrous dysplasia in MAS ```

Answer 273

``` NF TS Fanconi McCune Albright Ataxia telangiectasia RUssle silver Blooms Gaucheries Chediak-Higashi ```

Answer 274

Optic chasm compression

Answer 275

``` Third nerve palsy Cataracts corneal opacitoes, vitreous and retinal haemorrhage or detachment Infection iris and ciliary muscles Trauma Optic nerve pathology ```

Answer 276

Vestibular away from lesion Cerebellar towards side of lesion (Fast phase)

Answer 277

Triceps C7,8 Supination C5/6 Biceps C5/6 Knee L3/4 Ankle S1/2

Answer 278

``` Peripheral neuropathy Vincristine GBS Fredeichs ataxia CMT Hereditary neuropathy ```

Answer 279

Upper limb skeletal abnormalities and heart problem

Answer 280

Brachydactyly

Answer 281

Bulbar palsy (MND)

Answer 282

L – lentigines (multiple brown-black spots on the skin) E – electrocardiographic (ECG) conduction defects O – ocular hypertelorism P – pulmonary stenosis A – abnormalities of genitals R – retarded growth resulting in short stature D – deafness or hearing loss due to inner ear malfunction

Answer 283

``` congenital os odontoideum Down syndrome (20%) Morquio syndrome spondyloepiphyseal dysplasia osteogenesis imperfecta Marfan disease neurofibromatosis type 1 (NF1) arthritides rheumatoid arthritis psoriatic arthritis Reiter syndrome (reactive arthritis) ankylosing spondylitis systemic lupus erythematosus (SLE) acquired trauma retropharyngeal abscess / Grisel syndrome surgery upper respiratory tract infection ```

Answer 284

Kearns-Sayre syndrome triad includes onset in persons younger than 20 years, chronic, progressive, external ophthalmoplegia, pigmentary degeneration of the retina and cardiac problems

Answer 285

Mnemonic Great flow really would be perfect G: Glenn shunt superior vena cava to right pulmonary artery F: Fontan procedure inferior vena cava or right atrium to right pulmonary artery R: Rastelli procedure right ventricle to main pulmonary artery W: Waterston shunt ascending aorta to right pulmonary artery B: Blalock-Taussig shunt subclavian artery to pulmonary artery P: Pott shunt descending thoracic aorta to left pulmonary artery

Answer 286

``` Exudate: CT diseases, pneumonia, TB, drugs and radiation Transudate: Low albumin Low thyroid Low cardiac output in failure ```

Answer 287

Congenital and acquired Congenital: PCD, CF, immune deficiency Acquired: infective, FB, TB

Answer 288

B vitamin deficiencies esp B12 Folate Iron Geographical tongue by def B vitamins

Answer 289

``` Ocular changes/signs of anaemia Clubbing CLD - cirrhosis/PSC Gallstones and renal stones Arthritis Skin manifestations ``` Complications: of treatment, mega colon, bleed or perforation, cancer

Answer 290

``` Cirrhosis Veno oclusive disease CHF Constrictive pericarditis TB Pancreatic Nephrotic syndrome ```

Answer 291

``` Important not to miss: Cancer Abscess AAA BO ``` Common: Constipation Bladder enlargement Organomegaly ``` Other: Transplanted kidney Gastric mass Ovarian cyst Hernia Uterus causes ``` B

Answer 292

``` MND (SMA) Motor root compression Peripheral neuropathy Primary myopathy Thyrotoxicosis ```

Answer 293

Cerebellar Proprioception UMN pyrimidial weaknss

Answer 294

``` Common peroneal nerve palsy CMT L4/L5 lesion Stroke Distal myopathy MS Muscular dystrophy Peripheral motor neuropathy ```

Answer 295

A waddling gait is the style of walking that is seen in a patient with proximal myopathy. It is characterised by: a broad-based gait with a duck-like waddle to the swing phase the pelvis drops to the side of the leg being raised forward curvature of the lumbar spine marked body swing This gait may also be seen in patients with congenital hip dislocation and pregnancy.

Answer 296

1.7 at birth 1 by age 10 0.8 by puberty

Answer 297

Observe Conservative - physiology and exercises, chair adjusted, bracing Surgical

Answer 298

Assess current control with reviewing investigations and BSL record - may need to alter insulin regime Survellience for complications Ongoing education everyone involved including safety with alcohol, avoid smoking Diet and exercise discussed Sick day management, hypoglycaemia plan and travel plan (letters, contacts,supplies) Medic alert Health optimisation with vaccinations Psychosocial support with diabetes youth groups diabetesyouth.org.nz Diabetes NZ Transition plan

Answer 299

Retinopathy and diabetic nephropathy [urine sample, ophthalm] yearly from 5 years after diagnosis or from 10 years or 2 years after diagnosis in adolescent BP yearly Lipids checked 5 yearly or from 12 years or annually after puberty Yearly FT and coeliac screen for 5 years then 2 yearly Neuropathy, joint and skin problems, CV risk

Answer 300

Medical treatment with steroids Survellience and management of complications: - mood and behaviour - Rarely have cognitive impairment - wisckott score to identify areas requiring assistance and strengths, individualised learning plan for appropriate assistance with educational and physical needs - Cardiomyopathy Echocardiogram treat failure - respiratory nocturnal failure/polysomnography - bipap - Contractures and scoliosis - passive and active exercises physiotherapy assisted programmes OT assisted supports and equipments and review suitability of home environment Orthotics and surgery - Nutrition with exercise and diet advice Other: - end of life and palliative (life limiting illness) support from MDA for coping grief and loss - Steroid side effects - Avoid smoke and treat infections aggressively - avoid patronising and overprotective - workbridge can assist with vocation planning - parent project muscular dystrophy - Nzord.org.nz