Develop/Genetics/Metabolics

Question 1

Down syndrome phenotype

Answer 1

1. MR 2. Growth failure/FTT, small brachycephalic head 3. Brushfield spots, 4. Relative macroglossia 5. Upslanting epicanthal folds, epicanthic folds 6. Ligamental laxity 7. Single palmar crease, brachydactyly 8. Space b/w 1st and 2nd toe, 5th digit clinodactyly 9. Hypotonia 10. Duodenal atresia

Question 2

Down syndrome complications

Answer 2

1. Behavioral problems (ADHD, anger > CD/ODD) 2. Szs (IS, myclonic, tonic), prog alzeihmers 3. Learning d/o and DD (expressive language), MR Mild-S 4. Atlanto-axial subluxation 5. Hearing loss (75%) (CHL, SNHL, mixed), rec AOM 6. Optho d/o (refractive errors, strabismus, nystagmus, cataracts, glaucoma) 7. OSA (50-75%), obesity 8. CHD (ASVD>VSD>ASD>PDA>TOF) 9. Obesity DM, hypothyrdoidism, celiac

Question 3

Fragile X features

Answer 3

1. Relative macrosomia 2. Macrocephaly 3. Increased AF 4. Prominent forehead 5. Pointed chin 6. Large ears 7. Midface hypoplasia 8. Hypotonia/joint laxity 9. Macroorchidism 10. Hypotelorism 11. High arched palate

Question 4

Complications of FXS

Answer 4

1. MR/DD (language) 2. Szs 3. Autism (25%) 4. Depression and mood d/o (F) 5. Tactile hypersensitivity 6. ADHD 7. Learning d/o (reading/math) 8. Joint sublux/dislocations 9. Anxiety d/o 10. Aggression 11. MVP 1. Transient myeloproliferative d/o 2. ALL = AML 3. Infertility (M > F) 4. Skin problems (seborrheic dermatitis, alopecia, vitiligo)

Question 5

Conditions associated with cataracts

Answer 5

1. IEM: galactosemia, mitochondrial d/o 2. Genetic syndromes: Turner’s, Down, Noonan 3. TORCH: rubella 4. Meds: steroids

Question 6

Turner syndrome

Answer 6

1. Lymphedema of extremities 2. Redundant nuchal skin (residual cystic hygroma) 3. Short stature 4. Shield chest 5. Wide arm carrying angle 6. Ammenorhea/infertility 7. HypoTH 8. DM (rare) 9. Celiac disease (rare) 10. Cardiac dfx (45%): CoA / bAV (Left sided lesions) 11. Renal abN/N renal fxn: a. Horseshoe kidney / Duplicated collecting system 12. Gonadoblastoma (if 45X/46XY) 13. Optho (strabismus, cataracts, nystagmus, red-green colour-blindness) 14. Recurrent OM / SNHL 15. GI abN: GER, feeding difficulties, IBD? 16. Social: isolation, anxiety, poor self-esteem 17. Rare MR 18. LD: visuospatial dysorganization, non-verbal perceptual motor (70%!)

Question 7

Female short stature top 3

Answer 7

1. Constitutional 2. Familial 3. Turner’s

Question 8

Noonan phenotype

Answer 8

1. Evolving facies over time 2. Low set, post rotated ears, vivid blue-green irises 3. Wide spaced eyes, epicanthal folds, droopy eylids 4. Short stature 5. Webbed neck, low post hair line 6. Triangular facies 7. Myopia / nystagmus 8. FTT

Question 9

Noonan associated abN

Answer 9

1. Renal problems 10%, SNHL 2. R side cardiac: PS, ToF, HCMO (progressive) 3. HSM 4. Cryptorchidism, micropenis, deleyaed puberty 5. Coagulation defects 6. Lymphatic dysplasias 7. ALL, CML 8. Mod MR ~ 25% pts 9. Normal chromososomes

Question 10

7yo male from GP for ?ADHD. Accompanied by both parents. Mom – issues at home and school. Dad – skeptic. History and physical Investigations Counseling session Comment on cardiac risk

Answer 10

History - Onset, course, duration - When symptom started, what are they specifically - Settings (school, home, sports, activities) o Missed school, meeting with principal o Where do they sit in the classroom - Hyperactive: can’t wait turn, “on the go” - Inattentive: forgetful - What have you done so far o Parenting classes, psychoeducational assessment o OT - Safety (rules, law, injury) - Appropriate discipline - Associated symptoms: o LD o Mood disorder (depression/anxiety) o ODD behavior, aggression o Academic achievement - Review of systems o CVS, resp, abdo o CNS: seizures o Cardiac disease (esp for stimulants) o Infections o Hyperthyroid, hypothyroid o Pysch § Tics o Sleep hygiene § OSA o Genetic syndrome or congenital anomalies § FAS o Lead exposure, vitamin deficiencies - PMHx o Seizures, head trauma o Vision or hearing o Chronic disease o Hospitalizations or surgery - Birth history (exposures, substances, mom’s age, pregnancy issues) o Prematurity, NICU, IVH - Developmental screen o Gross motor, fine motor, language, social - Growth, head circumference specifically - Medications o Past treatment, sedation (ex. gravol, Benadryl) - Allergies - Vaccines - Family history o Physical and mental health o ADHD, mood disorder, LD o TS, developmental delay o Sudden death, cardiac disease, arrhythmias, syncope, WPW - Social history o R/O abuse o Impact of illness Physical Exam - Height, weight, head circumference - Vital signs - General appearance: dysmorphisms (ears, micro/macrocephaly) - CNS exam with fundoscopy - CVS- complete, for stimulants - Resp - Abdo - Derm exam (neurocutaneous disorders) - Joint exam - Head and neck exam - Vision and hearing - Have the child write something Investigations - Screening questionnaire and collateral history to parents and teachers - Investigations targeted to findings on history and physical o TSH, lead level, CMA à COMMONLY DON’T NEED ANY o Hearing and vision screen o Sleep study - EKG if any findings, personal history or family history - EEG if history concerning for absence or other seizures - Psychoeducational assessment o Ask re: extended drug coverage Counseling: medications, will he outgrow this? - Define ADHD, make diagnosis o Genetic disorder o Neurotransmitter abnormality o Adverse effects include: social, academic, general health o Dispel myths re: red dye, dietary sugar, etc - Treatment is combination of behavioural + medications - Resources: electronic, paper, support groups, diary - Stimulant medications (preferred is long-acting: Concerta, Vyvanse, Biphentin) o Commonly used, safe long-term o Side effects include appetite suppression, growth + weight velocity § Insomnia, headache, jitteriness o Start at low dose, increase slowly o Ask re: drug plans o May get questions re: Strattera (non-stimulant, possibly less effective) - CADDRA - Expect him to have this long-term o Adults are the most under-represented (assoc with incarceration, divorce, traffic violation) - Regular visits at the beginning - Screening questionnaire (Snap) pre + post Cardiac assessment - No routine echo or ECG unless personal history, findings, or family history Notes: Diagnostic Criteria - >6 months - Symptoms must be present

Question 11

Standardized patient station. A mom comes to see you because she is worried that her 2-and-a- half year old son is not yet talkin. PEP (5 minutes): 1. List 4 broad categories of differential diagnoses:

Answer 11

1. Developmental Disorders 2. Organic Disorders 3. Psychosocial Disorders 4. Psychiatric Disorders 1. Developmental: a. Global developmental delay / Mental retardation i. Low score on verbal or performance IQ b. Specific developmental delay ( test learning in reading, writing, math and c/w IQ) i. Developmental language disorder c. Pervasive developmental delay i. Autism / Aspergers spectrum d. Sensory developmental disorders i. Visual developmental disorders ii. Hearing Developmental disorders 2. Organic : a. Underlying medical disorder i. Congenital / Acquired infection ii. Developmental brain abnormalities iii. Metabolic disease ( PKU, hyperthyroid) iv. Toxins ( lead ) v. Neoplasm vi. Genetic disorders: fragile X, TS, Angelmans, Cornelia de Lange vii. Degenerative / Regressive 1. seizures 2. Retts syndrome 3. Tuberous sclerosis 3. Psychosocial: a. Neglect / abuse 4. Psychiatric: a. Disintegrative psychosis b. Schizophrenia

Question 12

Mrs. J has brought in little Marky, her 3.5 year old son, because of tantrums. Counsel.

Answer 12

Counseling Package qSetting o Names (parent, child) o Fam there? o Purpose o Confidential qPerception o understanding, beliefs qHistory o Psychosocial (stresses/changes, family structure & health including psych, marriage, finances/employment, ethnic, religion, SCAN) o Psychosocial effects qInvitation qKnowledge o Remove blame o “am I making sense so far?” qEmpathy o Allow venting (how coping?), reassure qSummarize o Team – f/u, allies (family & medical) o Contract o Questions History qEpisode hx, graph the episodes qTriggers, timing, settings o Eat/hungry, toilet, sleep(tired) qEffects on family qCurrent discipline by various members, effects, advice from others qComorbid hx: dev, behav, sensory-, mood-/anxiety, learning-, PI MAID, ROS, preg/deliv Knowledge qFrustation → self-regulation o Common in toddlers q Discipline o Behav change, not punishment o Goal=self-regulation q Routine o Ignore or Redirect □ Verbal warnings useless till preschool □ Supervise for safety □ “No-hot!” o Consistent Immediate Fair Consequences □ Time out @2y , priviledge- if older (grounding @5y) □ Anticipate immediate escalation □ Forgive o Praise good behav qAvoid o Arguing over irrelevant behav o Physical o Shouting o Bribes o Criticize behaviour, not child qTime out: o Introduce @ 2y o Ignore tantrum, remove from positive attention, “no ____”, don’t argue/preach during o 1min/y to max 5min o Offer fresh activity when done qSummarize o Allies: family support, daycare/respite, social work, consults (hearing/vision, dev peds, SLP)

Question 13

Mrs. J has brought in little Marky, her 2.5 year old son, because she is concerned that his speech is delayed. They noticed at a young age that he was different than his older brother in that he didn’t babble as much and did not play with his brother. In the next 15 minutes, take a history. You will have 5 minutes to answer some questions afterwards.

Answer 13

History: Pregnancy / Newborn Illnesses during pregnancy Labour and delivery problems Ototoxic medications HIE Severe jaundice Birth weight • Medical history • Recurrent otitis • Feeding problems • Has hearing been tested • History of head trauma • Family history • Demographics of family • Depression/psychiatric illness in family • Seizures in family • Consanguinity • History of neurologic, developmental problems in extended family Behavioural history • ASD • Social: impaired attachments, development of relationships, lack of awareness of others’ feelings o Sample:“Pointtoobjectsofinterest?Bringobjectstoyou?” • Communication – abnormal speech production/content, cannot initiate or sustain conversation o Sample:”Doeshemakeeyecontact” • Behaviour: restricted repertoire of activities, difficulty changing routines, stereotyped movements o Sample:“whatarefavoriteactivities” • Temper tantrums, aggressive behavior • Sleeping problems Developmental history • Any regression? • Expressive language: number of words, combined words • Ability to articulate • Communication with sounds and/or gestures o Sample:“Howmuchcanmotherunderstand” • Receptive language: respond to name, follow commands, know body parts o Sample:“Pickupyourshoes” • Gross motor: running, walking, stairs o Sample:“Howdoesheclimbstairs?” • Fine motor: pincer grasp, scribbling, drawing o ADL:feedingself,bathing,undressing,toilettraining o Sample:“Whatcanhedraw” • Social history • Who cares for child? • Languages spoken at home • Maternal supports • Any services so far, ie speech therapy • What do parents think problem is? Q: List 4 broad categories of differential diagnoses A: 1) Developmental 2) Organic 3) Psychological 4) Psychiatric Q: Name your top differential diagnoses from EACH category A: 1) Developmental → GDD/MR, language disorder, ASD 2) Organic → TORCH, toxins, brain abnormalities, endocrine/metabolic 3) Psychological → neglect 4) Psychiatric → psychosis/schizophrenia Q: What are 3 categories of impairment seen in autistic disorder? A: 1) Impaired communication 2) Impaired social interaction 3) Restricted and repetitive behaviour Q: What 2 investigations would you do? A: 1) Hearing test 2) Speech/language assessment 3) Karyotype 4) Fragile X testing

Question 14

History. physical. investigations for developmental delay

Answer 14

qDuring the history → give the child something do do (e.g., colouring, toys); observation is key! qAsk about parents’ main concerns qPast Medical History o Pregnancy history □ Fevers, illness, rash, infections, pets, undercooked meats □ Prenatal care, blood tests, MSS, amniocentesis, US □ General health, medications □ Drugs, alcohol, smoking, occupational exposures o Labour & Delivery □ Gestation age at delivery □ Type of delivery □ BW, APGARS □ Early feeding problems, age at discharge o Neonatal o Illness, Hospitalizations o Seizures, unusual odours (e.g., sweaty feet, mousy odour, boiled cabbage, etc) qHistory of Presenting Illness o Development □ Start with current level of functioning, ask about regression and comparison to sibs □ Milestones • Gross Motor • Fine Motor • Social • Language (receptive and expressive) • Regression o Behaviour “EAT, PLAY, SLEEP” □ Temper tantrums, discipline □ Eating, sleeping □ T oilet training □ Aggressive or violent behaviour □ Play □ TV watching □ Safety measures at home □ Repetitive behaviours □ Specific behaviours → Eye contact, self-mutilation, hang wringing □ Joint attention □ Interest in wheels, shiny objects, lining up toys (e.g., cars) qManagement to date o Investigations – hearing, vision o Interventions o What parents have been told qROS → neuro, vision, hearing qMedications, Allergies, Immunizations qFamily History o Ages, health, occupation and educational level of parents o Consanguinity o Hx of pregnancy losses, early infant deaths o Hx of developmental delay, syndromes, PDD, seizures, learning disabilities in extended family qSocial History o Who is at home o Who cares for child o Marital stressors Physical Examination q General Appearance q Growth: Height, weight, head circumference (and previous curves) q Head & Neck: Dysmorphic features, large fontanelle, palate, cataracts, retinal anomalies, ears qResp q CVS: associated anomalies Investigations q Abdo: HSM q GU: hypogonadism q MSK: associated anomalies, back (scoliosis), hand creases, minor anomalies q CNS: complete neuro exam, look for soft neuro findings, primitive reflexes, spinal dysraphisms q Skin: neurocutaneous lesions qDevelopmental level o Vineland – parent report o Denver – misses mild delay, no better than detailed Hx o DISC – direct observation q Multidisciplinary team assessment o OT o PT o Speech o Developmental pediatrician o Social work qInvestigations for Etiologies o Hearing test – all children with speech delay o Vision o Neuroimaging – macro or microcephaly, abnormal CNS exam o Sleep EEG: if suspicious of seizures, if hx of language regression (Landau Kleffner) or PDD with regression (25% have seizures) o Bloodwork: CBC, diff, lytes, glucose, urea, creatinine o Chromosomes □ Karyotype +/- microarray □ Mention Fragile X □ Mention dystrophin gene (PCR) +/- muscle biopsy o Metabolic screen □ Gas, lactate, NH4, serum AA, urine OA, acylcarnitine profile, total and free carnitine □ Consider MPS, oligos Management qCounseling parents qReview what parents have already been told qDiagnosis o Review results of developmental testing o Review results of investigations o Important to remove blame! qReferrals o Speech pathologist o GM, FM delays → OT, PT o Preschool → Integrated program o Supports → Social Work, parent groups o Financial Support → Special Services at home, CCAC (home care OT, PT, Speech) o For Autism □ Autism Initiative □ Behaviour modification

Question 15

You are asked to see Thomas, a 4 year old child, whose parents are complaining that he could not climb at the playground or run as fast as other children and he appears to be ‘clumsy’. Take a focussed history and plan further investigations (7 min). Formulate a diagnosis and consider management (8 min).

Answer 15

qDuring the history → give the child something do do (e.g., colouring, toys); observation is key! qAsk about parents’ main concerns qHistory of Presenting Illness o description of symptoms o onset/progression o proximal vs. distal weakness - gait/hip movement, sitting-to-standing maneuvers o trip injuries qROS o MSK: □ fasciculations □ muscle cramps, wasting o CNS: □ sensory symptoms - paresthesias, balance/proprioceptive problems □ cognitive slowing, attention issues, confusion □ CN signs □ seizures □ cerebellar signs - diplopia, ataxia, head tilt, nystagmus o HEENT:□ hearing difficulties□ vision problems o CVS/RESP: □ chest pain, SOB o GI/GU:□ difficulty swallowing □ constipation, obstruction □ diarrhea □ myoglobinuria o ID:□ sick contacts, travel history qPast Medical History o Pregnancy history □ Fevers, illness, rash, infections, pets, undercooked meats □ Prenatal care, blood tests, MSS, amniocentesis, US □ General health, medications □ Drugs, alcohol, smoking, occupational exposures o Labour & Delivery □ Gestation age at delivery □ Type of delivery □ BW, APGARS □ joint contractures/deformities at birth □ Early feeding problems, age at discharge o Neonatal o Illness, Hospitalizations o Medications, Allergies, Immunizations q Development o Start with current level of functioning, ask about regression and comparison to sibs o Milestones □ Gross Motor □ Fine Motor □ Social □ Language (receptive and expressive) □ Behaviour: ‘eat, play, sleep’ □ Hearing, vision - issues, testing □ Regression qFamily History o Ages, health, occupation and educational level of parents o Hx of DMD, congenital dystrophies, myotonic MD, neuromuscular disorders, anterior horn cell disorders, hypotonia, weakness, CP o Consanguinity o Hx of pregnancy losses, early infant deaths o Hx of developmental delay, syndromes, PDD, seizures, learning disabilities in extended family qSocial History o Who is at home o Who cares for child o Marital stressors o Impact on child, impact on family qManagement to date o Investigations o Interventions o What parents have been told

Question 16

Conduct/ODD Station

Answer 16

qOppositional defiant disorder: recurrent patterns of negativistic, defiant, disobedient, and hostile behaviour torward authority figures and at least 4 of the following: o Often loses temper o Often argues with adults o Often actively defies or refuses to comply with adults’ requests or rules o Often deliberately annoys people o Often blames others for his or her mistakes or misbehavior o Often is touchy or easily annoyed by others o Often is angry and resentful o Often is spiteful or vindictive qConduct disorder: repetitive and persistent pattern of behaviour in which the basic rights of others or major age-appropriate societal norms or rules are violated. Additional symptoms include: o Agression to people and animals o Destruction of property o Deceitfulness or theft o Serious violations of rules History qParents’ concerns and reason for appointment qWhen did problems start (any associated changes/stressors) qBehavioural problems at school, home, and/or other settings qBullying qPast Medical History o Obs Hx, prematurity, jaundice, IUGR, VLBW, HIE, prenatal exposure to drugs or toxins o Seizures, head trauma, meningitis o Abdominal pain, headaches o Chronic disease qDevelopmental history (GM, FM, Language, Social) qComorbid conditions o ADHD o Asperger / Autism o Depression o Anxiety o Learning disability (reading, mathematics, written expression) o Hearing / Vision qSocial history (HEADSS if older child and relevant) o Who lives in home, daycare, after school programs o Who is in charge of setting rules in the home, discipline o Who helps with homework o Previous history of violent behaviour or abuse qFamily history o Learning disability, genetic problems (e.g., Fragile X, Williams) in extended family o Parents’ ages, occupations, level of education o If behavioural problems at home, how are they dealt with qInvestigations already completed → psychoeducational assessment, IQ testing, hearing, vision qResources – IEP, getting extra help, tutoring Physical Examination qHeight, weight, head circumference, full set of vitals qEyesight, hearing qDysmorphic facial features (Fragile X, Williams, FAS, Klinefelter, Turner etc.), minor anomalies qCardiac murmurs qSkin markings (hyper/hypopigmented lesions) qMacro-orchidism qComplete neurological exam, scoliosis qAsses fine and gross motor skills qAssess cognitive skills through interview, office academic testing Differential Diagnosis (comorbid conditions) qADHD qAsperger / Autism qDepression qAnxiety qLearning disability (reading, mathematics, written expression) qHearing / Vision Investigations qHearing and vision testing qConsider questionnaires regarding behaviour for parents, teachers (e.g., SNAP, Conners) q+/- TSH, CBC, lytes q+/- Genetic testing for Fragile X (trint repeat), Klinefelter/Turners (karyotype), Williams (FISH) qPsychoeducational testing o WPPSI (4-6 years) o WISC-IV (>6 years) o Academic testing (e.g., Woodcock Johnson) qOther investigations as needed according to history (EEG, Sleep study, HIV, MRI etc) Management qBecause of the multifaceted nature of conduct problems, particularly related comorbidities, treatment usually includes: o Medication o Teaching parenting skills (parental management training) o Family therapy o Consultation with the school qEvaluate (and treat) for ADHD

Question 17

Fetal Alcohol counselling

Answer 17

Counseling and Management Introduce Set up interview (people, location, privacy, interruptions) Ask about parents understanding of situation, what is concerning, rationale for investigation o What is their understanding of risk of alcohol and cocaine exposure to fetus o Expectations for child’s management o Desire to stop drinking alcohol Knowledge o Explain current findings (dysmorphic features, neurological findings, growth) o Explain what is associated with alcohol exposure (see below) and it is difficult to tell right now if baby will develop these manifestations Management o Environment: quiet, reduce external stimuli (lights, interruptions), swaddling o Neonatal Abstinence (alcohol alone rarely presents with withdrawal, but other drugs may have been consumed − Rx: seizures, diarrhea, or hyperirritability affecting sleep, feeding patterns, weight gain §Opioid withdrawal: Opioid + Phenobarbital, ± further sedation § IV fluids §NPO if risk of aspiration − Use Neonatal Abstinence Score to monitor signs/symptoms Psychosocial o Empathy o Ask about feelings o Avoid discussion of “fault” o Who lives at home, other caregivers, other children o What to tell family/friends o How to tell family and friends o Work as a team Strategy and Summary o Follow-up − Arrange close follow-up by you in hospital (not to go home until know it’s safe), involve both parents o Allies: − More information § Support groups, arrange to meet with other parents/patients § Educational websites, pamphlets, books − Call: MotherRisk for advice regarding breastfeeding o If substance abuse to continue, advise not to breastfeed CPS §CAS always: to determine safety of child going home with mother o If safe to do so, infants should remain with birth families §Social Work to see parents − Referrals: §MotherRisk for follow-up and further counseling regarding breastfeeding, future pregnancies §Psychiatry for any psychiatric issues §Substance Abuse/Alcohol Abuse programs §FAS multidisciplinary team §Parenting courses §Later: OT, PT, SLP, psychoeducational testing, etc. o Keep in hospital until discharge can be done safely qAsk for understanding, questions THROUGHOUT PEPS qQ: Name 3 factors affecting the phenotype of FAS qA: Maternal age, Amount of ETOH, Pattern and timing of ingestion, Metabolism of ETOH by mother qQ: Name 2 early findings of FAS at birth qA: Microcephaly and SGA qQ: Diagnosis of FAS qA: History of prenatal alcohol consumption by mother + TRIAD of characteristics in infant: 1) Pre- and post-natal growth deficiency (IUGR, microcephaly) 2) Characteristic facial features -Short palpebral fissures, hypertelorism, midface hypoplasiawith short nose, absent/hypoplastic philtrum, bow-shaped mouth, thin upper lip 3) Neurobehavioral abnormalities -Intelligence (MR/intellectual disability) -Activity and attention (ADHD) -Learning and memory (LD, organization, abstract thinking, difficulty making choices) -Language and motor abilities (Dev Delay/GDD) -Behavior (temper tantrums, inability to foresee consequences of actions, overly affectionate, disinhibited, lack of social skills to -Serious life adjustment problems longterm (Depression, alcoholism, suicide, crime, pregnancy) keep friends) qQ: Atypical FAS qA: Also referred to as ARBD (Alcohol-related birth defects, ie physical features) or ARND (neurodevelopmental defects)

Question 18

Achondroplasia counselling

Answer 18

1) Do you have a support person here 2) What is your understanding of why we are meeting and your expectations 3) Brief history 4) Planned pregnancy 5) Dx: achondroplasia: a. Disorder that results in short stature with short limbs: avg ht=4 ft b. Other features of this condition: i. narrow foramen magnum: cervical spinal cord compression, unexpected death as neonate-2-5% (compression of arteries), apneas (under 5 %) ii. hydrocephalus (within first 2 y) iii. delayed motor milestones (walk around 18-24 months) iv. normal intelligence v. bowed legs vi. frequent OM leading to hearing loss vii. thoracolumbar kyphosis viii. psychosocial ix. restrictive pulmonary disease (under 5%) x. obesity xi. later: spinal stenosis of lumbar spine c. Genetic condition: 75% arise from a spontaneous mutation, transmitted AD. children will have a 50% chance transmitting heterozygous disease and 25% of homozygous d. Diagnosis is confirmed by xrays e. Management: -plot children on special growth curves for achondroplasia -monitor head circumference and neurological function -MRI for narrow foramen magnum (neonate) Common for these couples to marry and their -Polysomnography (neonate) -Avoid unsupported sitting (assoc with severe throacolumbar kyphosis) -Growth hormone not effective -Referral to geneticist (FGFR3 molecular dx only if dx uncertain) 6) Follow up and support groups and handouts

Question 19

You are a consultant pediatrician. You are seeing a new patient who has just moved to your town from another province. He is an 8-year-old boy with Down Syndrome, accompanied by his parents. Take a history (12 minutes).

Answer 19

Professionalism □ Introduces self □ Refers to patient by name □ Refers to parents by name □ Provides follow-up Counseling skills □ Determines parents’ concerns □ Is non-judgmental □ Avoids medical jargon □ Seeks parent understanding □ Provides opportunity to ask questions Relocation □ Where they moved from □ Reason for the move □ Previous pediatrician □ Previous specialists □ Request permission for copy of medical records □ Arrangements in place for health care in this city Down Syndrome □ Timing of diagnosis □ Present health status □ Confirmatory testing done o Type of trisomy Pregnancy □ Age of mother □ Course of pregnancy □ Infections □ Medications □ Ultrasounds □ Triple testing Perinatal □ Gestational age □ Delivery method □ Birthweight □ Resuscitation at birth □ ICU admission Cardiac Lesions □ Was a cardiac defect present □ Type of defect □ Degree of symptomatology □ Any surgical correction done □ Planned surgical corrections □ Cardiac meds □ Dental prophylaxis □ Last cardiology assessment □ Any referral to local cardiology Hearing □ Any hearing deficits □ Results of hearing screening □ Date of last assessment □ Hearing aids □ Episodes of OM □ Last ENT assessment □ Any referral to local ENT Vision □ Any visual problems o Cataracts o Glaucoma o Strabismus □ Last ophthalmology assessment □ Glasses Hematological □ Any leukemia □ Results of screening CBCs □ Recurrent infections Gastrointestinal □ Duodenal atresia □ Hirschsprung disease □ Screening for celiac disease □ Symptoms of celiac disease o Abdominal pain o Bloating o Malabsorption □ Special diets Endocrine □ Results of prior thyroid screening □ L-thyroxine □ Growth status Musculoskeletal □ Atlanto-axial instability o Screening C-spine films done □ Hypermobile joints Respiratory □ Signs of obstructive sleep apnea Development □ Attainment of skills o Gross motor o Fine motor o Expressive speech o Receptive speech o Intelligence o Social interactions □ Behaviour o Hyperactivity o Attention-deficit □ Previous developmental assessments □ School grade □ School services o Teacher’s aide □ Developmental testing done Family history □ Ethnicity □ Consanguinity □ Congenital defects □ Developmental delays □ Hypothyroidism □ Down Syndrome □ Miscarriages Social history □ Household members □ Status of parents relationship □ Age of siblings □ Health of siblings □ Social supports in new city □ Connections to Down Syndrome parent groups □ Extracurricular activities Other Medical History □ Past medical history □ Past surgical history □ Medications □ Allergies □ Review of systems Immunizations: □ At what times □ Extra immunizations o Hep B o VZV o Pneumococcal o Meningococcal o Influenza □ Adverse reactions Part II – Screening □ Annual o CBC o Thyroid function (TSH, free T4) o Growth on Down Syndrome charts o Vision screening o Audiology (every other year after 3y) o Dental health supervision □ Periodic o C-spine films §3y, 12y, 18

Question 20

Shown photo on computer monitor of face of young child with elfin facies of Williams Syndrome (this wasn’t obvious to all candidates). Scenario given with 4 year old child with significant constipation and harsh systolic cardiac murmur, developmental delay but sociable and talkative. ECG and growth charts also provided.

Answer 20

a) What is your diagnosis (Williams Syndrome) b) Describe 3 specific facial features in photo. 1‐Microcephaly with elfin facies 2‐Periorbital fullness 3‐Broad maxilla small mandible 4‐Hypertelorism 5‐stellate iris 6‐thick lips , large mouth, long philtrum 7‐very friendly and have a cocktail personality c) Asked to interpret growth charts (weight dropped off at 18mos‐2 years, height followed 6 months later – both began near 25th percentile, now both

Question 21

Mr. and Mrs. Gold have just received the devastating news that their youngest daughter Amy, 7m, has a confirmed Dx of Tay Sachs disease (TSD). The couple’s eldest daughter Rachel, 5y, is healthy with a normal development. Mr. and Mrs. Gold have come to see you as a consultant pediatrician, demanding genetic testing for Rachel, in order to determine whether she is a carrier.

In the next 10 minutes, counsel the parents on genetic testing of their daughter Rachel.

PEP (5 minutes):

• What ethical principle is the basis for the nature of genetic testing in Rachel’s

case?

• What are the 3 components required for Rachel to consent?
• In what circumstance is a physician NOT obligated to carry out genetic testing if

parents are insisting?

• Mr. and Mrs Gold are considering having another child and want to know whether

it is possible to know ahead of time if the baby has TSD. What do you tell them?

Answer 21

Explains genetics behind Tay Sachs disease (TSD):

̈ All our genetic info is contained in the cells of our body

̈ DNA is what contains this genetic info

̈ Each gene is a fragment of DNA

̈ DNA coiled to form chromosomes

̈ There are 46 chromosomes, in 23 pairs

̈ We get one of each pair from our mother, and one of each pair from our father

̈ TSD is an autosomal recessive lysosomal storage disease

̈ Requires mutation in both copies of a gene (from mom and dad) to have

disease – such as in Amy, the youngest daughter

̈ Mom and dad are both carriers for TSD, but do not have disease

̈ Possible that Rachel is also a carrier and doesn’t have disease

̈ Potential risks of genetic testing in healthy children:

o Stigmatization

o Discrimination
o Family dynamics may be affected
o May have a negative impact on Rachel to know (before WANTING to

know herself)
o Need to differentiate need for parent to know vs child’s best interest

̈ Medical benefit should guide genetic testing

̈ Ideally, genetic testing should done when Rachel is competent to make the

decision (respecting her right to have autonomy over personal info)

̈ CPS Recommendation: A carrier status for conditions that will be important

only in reproductive decision-making – testing children should be discouraged until child is able to participate fully in the decision to be tested

̈ Consider referral to ethics for further discussion Ethical issue

̈ Autonomy

Consent
̈ Informed

̈ Voluntary
̈ The individual consenting must be Competent

Circumstance in which a physician is NOT obligated to carry out genetic testing if parents are insisting:

̈ Where there is no medical or other benefit to the child

Prenatal Dx
̈ Amniocenthesis or chorionic villus sampling

Question 22

You are the attending physician on an in-patient medical service. You have been taking care of Hugo, a 16 year old boy with DMD. His health has been declining over the past 2 years, with acute worsening in his heart and lung function over the past 6 months. He has been admitted to hospital with pneumonia for the 3rd time in 3 months, this time requiring intubation and ventilation for 5 days in the PICU. He has now been stable on the wards for 7 days and is ready to go home with BiPap overnight. You have arranged a family meeting to discuss advanced care directives.

You have 10 minutes to lead this discussion with Hugo and his family. You will then have 5 minutes to answer PEPs.

Answer 22

̈ Introduces self

̈ Addresses patient and family members by name

̈ Displays empathy

̈ States need for appropriate location for discussion (comfort, privacy)

̈ Offers to include appropriate support people for patient and family

̈ States need to invite all pertinent members of the health care team as appropriate

(respirology, cardiology, neuro)

̈ States goals of meeting

̈ Asks patient and family their concerns and what they would like to get from the meeting

̈ Provides opportunity for family to ask questions

̈ Provides update on medical care this admission and plan for discharge

̈ Brief summary of pertinent past medical history

̈ Asks patient what his thoughts are about his health at present

̈ Provides opportunity for Hugo to speak with health care team without parents

present if he wishes

̈ Asks about understanding of advanced care directives

̈ Asks about previous discussions regarding advanced directives/DNR

̈ Asks about previous involvement of palliative care team

̈ Explains role of palliative care

o States that palliative care is appropriate not only when children are dying, but at any point following diagnosis of a life-limiting condition

o States the importance of a focus on quality of living and dying, rather than being limited to end-of-life care

̈ Explain the process of making a formal advanced care directive

̈ Best to be clear and decide on individual interventions that are feasible within the

context of the child’s illness

̈ Candidate is sensitive to emotions that may surface during the discussion,

including fear, guilt, anger, denial and surprise

̈ States need to involve other members of team to address physical, psychological

and spiritual needs of the child and family (psychology, psychiatry, palliative

care, pastoral care, social work, etc.)

̈ Offers to give patient and family time to make decisions

̈ Offers follow-up plan

Question 23

Advanced care planning PEP

Answer 23

Who should initiate discussions regarding advance care planning? When should these discussions occur?

̈ Advance care planning is part of the standard of care for pediatricians and other health care practitioners involved in the care of patients with chronic life-threatening conditions

̈ It is our responsibility to initiate these discussions, rather than wait for the patient/family to ask

̈ These discussions should occur early and regularly throughout the course of treatment, ideally before crises arise, and as the goals of care are clarified or change over time

̈ Decisions should be reviewed and revised on a regular basis as the medical condition and knowledge of treatment and prognosis evolve

What are the 3 categories of decision-making capacity?

̈ Incapable of consent

̈ Developing capacity for consent

̈ Fully capable of consent

̈ For minors who are either fully competent or have evolving capacity, the principle of respect for autonomy demands that we inform them, either so they can make their own decision, or at least be aware of what is happening with their health

What should you do if the patient and family are not ready to address advance care planning?

̈ If the patient and family do not appear to be ready to address advance care planning, particularly when death is not imminent, respect for autonomy and parental authority includes the option of allowing them to refuse information and defer decision-making