Develop/Genetics/Metabolics Flashcards

Question

What does an average 18 month old do?

Answer 1

Running Scribbling with fisted crayon 10-25 words + Word explosion + Word cominations + Single step commands Lots of gestures, pointing Know body parts Symbolic and parallel play

Answer 2

When the parent is concerned Regression By 9 M: not response to name, No words, less than 10 words,social communication concerns not sitting well By 12M: not pulling to stand BY 18M:

Answer 3

**Social Communication**: -All of the following: Problems reciprocating social or emotional interaction, severe problems maintaining relationships, nonverbal comunication problems **Restricted and repetitive behaviours:** -Two of the four: --steretyped or repetitive spech, motor movements, use of objects, excessive adherence to routines, highly restricted interest, hyper/hypo sensory input - **Symptoms must be present in early childhood**

Answer 4

Audiology testing Referral to SLP ASD specific screening instruments Referral to development pediatrician

Answer 5

PVL IVH/Hydrocephalus Intraparenchymal hemorrhage Infection Bilateral but asymmetric in severity

Answer 6

**50% Prenatal factors:** Malformations, perinatal strokes, congenital TORCH infections **Birth factors: 6%** ASphyxia during birth: HIE Unknown

Answer 7

**Conditions:** Autism DMD/Beckers **Neurological** Diplegic CP Tethered cord **MSK** Congenital contracture of the achilles tendon Tight heel cord Idiopathic toe walking

Answer 8

**Parent education** Establish a bedtime routine Consistent bedtime and schedule Remove maladaptive sleep associations Teach child to fall asleep on own Extinction

Answer 9

Occurs 1-3 hours after falling asleep Deep slow wave non-REM sleep Child does NOT wake during episode Does NOT recall episode in the morning Confused after episode Family history is common **ACTION:** \*\*Wake up 15min prior

Answer 10

**Bloods:** Thyroid Lead and Ferritin Metabolic testing **Special bloods:** Chromosomal microarray Fragile X MECP2 (Rett) **Other:** Neuroimaging, EEG, Ophthalmology, Audiology

Answer 11

Preschool (4-5): Evidence-based behaviour therapy Methylphenidate School aged (6-11) Start with meds and/or behavioural therapy (both) Adolescenents (12-18) Both

Answer 12

May exacerbate tics

Answer 13

Depression

Answer 14

Cognitive and learning disorders ADHD & Poor judgement, poor sense of cause and effect

Answer 15

Midface hypoplasia Small palpebral fissures Epicanthal folds Flat midface Thin upper lip

Answer 16

YES Currently provincially decided and NOT universal in Canada Congenital hearing loss more common than disorders we currently screen for **Median age of diagnosis of Congenital hearing** loss is 24 months **Earlier diagnosis**=improved speech and language development

Answer 17

3:1 for children

Answer 18

Consistency Pro-actively Catch the child being good Monitor parental stress

Answer 19

Improving the quality of parenting Improving the quality of parent-child relationships Controlling hostile conflict (See CPS statement)

Answer 20

Fluoxetine

Answer 21

ODD CD Anxiety disorder Mood Disorder

Answer 22

1. Glaucoma 2. Symptomatic CVS disease 3. Mod to severe HTN 4. Hyperthyroidism

Answer 23

1. Caregiver fabricates an illness 2. Child is presented persistently for medical assessment 3. Perpetrator denie the cause of the childs illness 4. Acute symptoms stop when parent and child are separated

Answer 24

18-24 Months

Answer 25

Karotype Fragile X

Answer 26

Discrepancy between a persons **overall intellectual ability** and **actual academic performance**

Answer 27

1. Achondroplasia 2. Apert syndrome 3. Marfan syndrome

Answer 28

All trisomies Some sex chromosomes

Answer 29

1. Prader willi 2. Beckwtih wiedeman 3. Sotos 4. Weaver 5. Bardet-biedt 6. IDM

Answer 30

-Crucial cofactor in the transport of long chain fatty acids -**Present with:** 1. hypoketotic hypoglycemia, 2. lethargy, muscle weakness, 3. cardiomyopathy

Answer 31

**Slowly evolving clincal syndrome** Dislocated ocular lenses Long, slender extremities Malar flushing & Livedo reticularis Mr?? psychiatric illness Skeletal

Answer 32

**CATCH 22** Congenital heart disease: TOF, TA, Arch,DORV Abnormal face Thymic hypoplasia Cleft Palate Hypocalcemia 22: Microdeletion of chromosome 22q11

Answer 33

**Eyes**: Hypertelorism,Antimongoloid slant **Ears**: Low set prominent ears, Notched pinnae, Reduce helix formation **Mouth**: Micrognathia, Short philtrum, Bifid uvula, High arched palate

Answer 34

AR deficiency in GALT enzyme activity **Presents with:** Cataracts, feeding problems/FTT, Hepatocellular dmage/liver failure + bleeding, sepsis (E coli )

Answer 35

**Genetics;** 1. X linked, 2. AR, 3. AD Most common form of isolated gonadotropin deficiency **Head:** SN deafness, Hyposmia, anosmia, **Genital**: microphallus,

Answer 36

Deafness +pigmentary anomalies and defects of neural crest-derived tissues White forelock

Answer 37

Fragile bones Blue sclerae Early deafness

Answer 38

Omphalocele, umbilical hernia Gigantism Macroglossia Microcephaly Visceromegaly Hypoglcemia Face is round with prominent cheeks

Answer 39

Kallman Prader Willi Bardet Biedl syndrome Septic Optic Dysplasia

Answer 40

H30 Hyperphagia Hypotonia Hypopigmentation Obesity

Answer 41

1. Impairment in social interaction 2. Impairment in communication 3. Restricted, repetitive sterotyped patterns of behaviour and interests

Answer 42

1. Careful physical exam to identify dysmorphic physical features 2. Macrocephaly 3. Wood's lamp exam for tuberous sclerosis 4. Formal audiologic evaluation 5. Lead test in the states 6. High resolution karyotype 7. Molecular DNA testing for fragile X syndrome

Answer 43

-One sibling affected: 5% -two siblings affected: 30%

Answer 44

1. Conductive: most common in children = interference with mechanical transmission of sound through the external and middle ear 2. Sensorineural hearing loss: failure to transduce vibrations to neural impulses within the cochlea or transmit impulses down the vestibulocochlear nerve 3. Mixed hearing loss: combination of both due to damage throughout middle ear and inner ear 4. Central hearing loss: defects in brainstem or higher processing centres of the brain

Answer 45

1. Psychosocial treatments: educate parents, set goals for family to improve child's interpersonal relationships 2. Behaviourally oriented treatments: implement rules, consequences and rewards to encourage desired behaviours 3. Medications: psychostimulant medications

Answer 46

Types of 1st line treatment: 1. Methylphenidate (ritalin, concerta) 2. Amphetamine 3. Amphetamine + dextroampheatmine preps (Dexedrine, adderall, vyvanse) Types of 2nd line treatment: (non-stimulants = norepi reuptake inhibitors) 1. Atomoxetine (strattera, bupropion) 2. TCAs 3. Alpha agonists (clonidine) Over the first 4 weeks, increase the med dose as tolerated to achieve maximum benefit -if side effects prevent further dose adjustment or if ineffective, use an alternative class of stimulants -ie. if methylphenidate is unsuccessful --\> switch to amphetamine --\> if unsuccessful, switch to atomoxetine

Answer 47

In children with a positive or personal family history of cardiomyopathy, arrhythmias or syncope, then do ECG and possible cardio consult before starting med!

Answer 48

1. Appetite suppression 2. Mild sleep disturbance 3. Tics (unmasking)

Answer 49

Oppositional defiant disorder: angry outbursts, arguing, vindictiveness, disobedience directed at authority figures -to meet diagnosis: \> 4 of these types of behaviours must be more frequent and more severe than children of a given developmental stage, must be present \> 6 months, and impair youth's function at home, school and with peers Conduct disorder: serious rule-violating behaviuor including behaviours that harm others = little concern for the rights and needs of others 1. Physical aggression to people and animals (bullying, fighting, weapon carrying, cruelty to animals, sexual aggression, 2. Destruction of property such as firesetting and breaking and entering 3. Deceitfulness and theft 4. Serious rule violations (running away from home, truancy) -to meet diagnosis, need \> 3 symptoms present at least 1 year and impair function at home, school or with peers

Answer 50

Parent management training: setting rules, praising and rewarding good behaviour, consequences for dangerous or destructive behaviour -treatment for conduct disorder: multisystemic therapy (extensive contact between therapist and school/home/peer groups, social competence training, parent and family skills training, medications, etc.)

Answer 51

50% of children with early language difficulty develop READING DISORDER -also risk factor for emotional dysfunction (anxiety specifically) -boys with early language delay: increased risk for ADHD, conduct disorder, antisocial personality disorder

Answer 52

Subtle developmental delay to encephalopathy -symmetric motor dysfunction -marked apathy, spasticity, hyperreflexia, gait disturbance -loss of developmental milestones

Answer 53

20% -associated with developmental delay if seen in \> 5 yo child -treatment: parental reassurance, ignore the behaviour, avoid highly emotional responses (do NOT need helmet)

Answer 54

1. Marfans: 80% of patients with Marfan have this but most have SUPERIOR/TEMPORAL ectopia lantis -Marfans people are very tall so they will have SUPERIOR 2. Homocytinuria: INFERIOR AND NASALLY -have FTT so will be small so inferior 3. Trauma 4. Ocular disease -uveitis -intraocular tumor -glaucoma -high myopia -aniridia -cataracts 5. Ehrlos-Danlos

Answer 55

1. Personal or family history of cardiac issues 2. Hyperthyroidism 3. Moderate to severe hypertension 4. Known hypersensitivity to sympathomimetics 5. History of drug abuse 6. Known tic disorder

Answer 56

5% of preschool children will stutter and this can be absolutely normal (normal developmental dysfluency of childhood); refer if still present past 5-6 years old -treatment: guidance to parents to reduce pressures associated with speaking and reassurance

Answer 57

1. Intrauterine infection 2. Premature closure of sutures 3. Chromosomal abnormalities 4. Metabolic disorders 5. Perinatal insult

Answer 58

Can stop at 2 yo since most premature infants catch up by then

Answer 59

Red flag to not have walked by 18 mo and not have spoken a single word by 24 mo

Answer 60

1. Occur in non-REM sleep (3): occur earlier in the evening (1st 3rd of the night!!!) -sleepwalking -night terrors -confusional arousals 2. Occur in REM sleep: occur later in the night (second half of the night!!!) -nightmares -hypnogogic hallucinations -sleep paralysis

Answer 61

1. Positive family history for sleep walking, night terrors, confusional arousals 2. Associated with safety concern 3. Occurs during stage 4 non-REM sleep Treatment: -ensure safe environment: lock home doors -avoid sleep deprivation -can wake patient 15-30 minutes before regularly occurring sleep walking

Answer 62

3-4 wks of age -can be caused by vacuum delivery -do not cause permanent deficits

Answer 63

3 single words at 15 months -10 words at 24 months (normal = 50 at 24 months, 200 at 36 months

Answer 64

Appears at 8 months and does NOT disappear

Answer 65

\*\*\*Think head downwards 4 mo: head righting 6 mo: bracing with their hands 8 mo: parachute reflex

Answer 66

Moro should disappear by 4 mo, hand grasp disappear by 3 mo

Answer 67

Sleep cycle for baby: 60-90 minutes -Sleep onset association disorder: falls asleep ONLY under certain conditions, does not develop ability to self-soothe -treatment: gradual vs. rapid withdrawal of sleeping assistance

Answer 68

1. Language ready: make 2 word phrases and understand 2 step commands 2. Need to understand cause and effect 3. Body awareness: understand feelings of needing to go (18-30 months) 4. Want independence 5. Need sufficient motor skills to get up and down from toilet Introduce potty at 2-3 years of age

Answer 69

Involuntary breath holding that leads to brief period of unconsciousness and is usually triggered by anger, fear or pain Two types of breath-holding spells: 1. Pallid = vasovagal reflex, often made worse by iron deficiency anemia, caused by reflex vagal-cardiac bradycardia, occurs in response to being surprised or scared 2. Cyanotic: result from prolonged expiratory apnea causing intrapulmonary shunting, usually from temper \*\*\*\*Each episode starts with a cry (often a "silent" cry and marked pallor in the case of the pallid type) and progresses to apnea and cyanosis -spells usually begin between 6-18 months of age, can persist up to 4-6 yo -syncope, tonic posturing and even reflex anoxic seizures may follow, particularly in breath-holding spells of the pallid type -injury, anger, frustration, particularly with surprise are common triggers -education and reassurance of parents is usually all that is needed as these episodes are self-limited and outgrown within a few years -treatment of coexisting iron deficiency is needed if present (new evidence shows that you can actually just give iron!) -Treatment: 1. do not provide secondary gain when episodes occur since this can reinforce the episodes = ignore the spells 2. prepare for unpleasant surprises (such as receiving a shot) rather than surprising the child \*\*\*\*Rarely: may need anticholinergic drugs (atropine), CPR teaching, or antiepileptic drug therapy for anoxic seizures for recurrent episodes

Answer 70

Chance of recurrence of depression once taken off: 40% (relapse rate)

Answer 71

1. Irritability 2. GI upset with decreased appetite 3. Restlessness 4. Diaphoresis 5. Sleep disturbance 6. Headaches 7. Sexual dysfunction

Answer 72

1. Anxiety 2. Depression 3. Tics Treatment: 1. CBT OR 2. CBT + SSRI for severe

Answer 73

Dyslexia -problems decoding single words -50% will have one affected parent -common with ADHD 1. When they are speaking, they mispronounce multiple syllable words 2. Speech is hesitant and choppy 3. Have trouble sounding out words that are unfamiliar 4. Hesitant to read outloud 5. Poor spellers 6. Terrible handwriting

Answer 74

1. Phoenetic awareness: develop ability to focus and manipulate sound 2. Practice sounding out letters 3. Fluency: guided repeated oral reading

Answer 75

Amblyopia: loss of visual acuity due to lack of a clear image projecting onto the retina -can be secondary to deviated eye (strabismic amblyopia), an unequal need for vision correction between the eyes (anisometropic amblyopia), a high refractive error in both eyes (ametropic amblyopia) or media opacity within the visual axis (deprivation amblyopia) -diagnosis: complete ophtho exam revealed reduced acuity that is unexplained by organic abnormality -usually asymptomatic and is detected only by screening programs -treatment: remove media opacity or prescribe appropriate glasses so that well-focused retinal image can be produced in each eye. -the sound eye is then covered (occlusion therapy) or blurred with glasses or drops (penalization therapy) to stimulate proper visual development of the more severely affected eye -occlusion therapy can provide speedier improvement in vision but some children better tolerate atropine penalization -need close monitoring by ophthalmologist -series of prospective studies show that some children can achieve similar results with less patching or use of atropine drops

Answer 76

1. Behavioural disturbance (decreased attention, impulsivity, distractbility) 2. Strabismus 3. Hearing impairment 4. Seizures 5. Oral-motor dysfunction 6. Learning disabilities/communication disorders

Answer 77

Impaired language development

Answer 78

Crying for at least 3 hours a day, at least 3 days per week for at least 3 weeks - peaks at 6-8 wks of age and should improve by 4 months but can persist up to 6 months

Answer 79

Diurnal = age 4 Nocturnal = age 6

Answer 80

Syndrome of recurrent episodes of excessive sleepiness lasting days to weeks associated with binge eating, weight gain, hyperseuxality, and mood disorders -usually seen in teen boys

Answer 81

Non-REM sleep -remember that they can't remember anything about the event thus non-REM! (in REM sleep, can remember, such as nightmares)

Answer 82

1. Parent-child education (ie. parenting classes) 2. Screening for major psychological risk factors 3. Schedule more visits with health care provider for support and counselling

Answer 83

Period of fear and discomfort followed by 4 of more of the following symptoms that develop abruptly and peak within 10 minutes: 1. shortness of breath 2. fear of losing control 3. Palpitations 4. Derealization or depersonalization 5. Sweating 6. Fear of dying

Answer 84

1. Hyperthyroidism 2. Pheochromocytoma 3. Arrhthymias 4. Ingestion 5. Caffeine 6. Hypoglycemia 7. Asthma 8. Lead poisoning 9. Migraines 10. CNS tumor

Answer 85

1. Stimulants 2. Cold and flu medications 3. Sympathomimetics 4. Ventolin/steroids 5. SSRIs

Answer 86

20-40% -bipolar disorder can often present with depressive episode first Treatment: 1. Valproic acid 2. Lamotrigine 3. Carbamazepine 4. Lithium

Answer 87

-predictor of early onset panic disorder -treatment: CBT +/- SSRI

Answer 88

OCD -patchy hair loss -hairs of different length from pulling -broken or flame hair (edges of hair splay)

Answer 89

Fear of one or more social situations: 1. Concern about embarrassing themselves 2. Exposure to social stressors provokes anxiety 3. Avoidance of social stressors 4. Lasts \> 6 mo 5. Onset before 18 yo Avoidant personality disorder: -feel inadequate and insecure thus don't want to put themselves out there -automatically think others won't like them and won't make fun of them -worried they're going to get rejected -not worried as much about getting embarrassed8

Answer 90

1. Tardive dyskinesia 2. QTc prolongation 3. Leukopenia 4. Neuroleptic malignant syndrome 5. Diabetes 6. Weight loss 7. Acute dystonic reaction 8. Transaminitis 9. Dyslipidemia

Answer 91

1. Experienced a traumatic event in which actual or threatened death or serious injury was possible 2. Persistent reexperiencing of traumatic event (flashback, repetitive play, dreams) 3. Increased arousal (sleep disturbance, irritability) 4. Avoidance of stimuli associated with triggers \*\*\*Duration has to be more than 1 month, can't be from drugs, has to impair their functioning

Answer 92

1. Ensure they are not hungry or tired 2. Try to distract or take them out of stimulation 3. Do not reinforce the behaviour with attention 4. Parents need to model anger control 5. Provide simple choices to help child feel more in control

Answer 93

Newborn: 35 cm 3 mo: 40 cm 9 mo: 45 cm 3 yo: 50 cm 9 yo: 55 cm

Answer 94

Inattention: 6 or more symptoms 1. Forgetfulness 2. Trouble holding attention 3. Distractability 4. Trouble organizing tasks or activities 5. Careless mistakes 6. Don't listen to when spoken to directly 7. Do not follow through on instructions 8. Fail to finish school work, chores, duties in work place 9. Trouble organizing tasks and activities 10. Avoids tasks that require mental effort over a long period of time 11. Loses things

Answer 95

Need 6 or more symptoms of the following: 1. Talk excessively 2. Interrupts and intrudes on others 3. Blurt out answers before question is being completed 4. Trouble waiting their turn 5. On the go 6. Fidget 7. Leave their seat when they stay seated 8. Can't take part in quiet leisurely activity \*\*\*Must have several symptoms before 12 yo, happen in more than one setting, impair functioning

Answer 96

1. Fragile X 2. FASD 3. NF 4. Rett's syndrome 5. Down syndrome

Answer 97

1. Behavioural therapy is first line 2. If fails, SSRI

Answer 98

1. Restriction of energy intake relative to requirements leading to a significantly low body weight in the context of age, sex, developmental trajectory, and physical health. 2. Intense fear of gaining weight or becoming fat, even though underweight. 3. Disturbance in the way in which one's body weight or shape is experienced, undue influence of body weight or shape on self-evaluation, or denial of the seriousness of the current low body weight.

Answer 99

1. Posterior rib fractures 2. Metaphyseal fractures 3. Scapular fractures 4. Spinal fractures 5. Multiple fractures at different stages of healing 6. Femur or humerus fracture in non ambulating child

Answer 100

1. Age \> 4 yo 2. Significant impairment (incomprehensible, more than 3 dysfluencies per 100 words) 3. Avoidant or escape mechanisms (will nod to answer a question or refuse to speak) 4. Causes anxiety or distress when speaking -4x more common in boys

Answer 101

1. Absence seizures 2. Obstructive sleep apnea 3. ADHD 4. Learning disability 5. Hearing impairment

Answer 102

Boys high rate of inheritibility

Answer 103

Inattention Increased activity Impulsiveness Impairment in multiple settings Inappropriate for developmental stage Incessant (\>6M)

Answer 104

2 weeks 2 hours 6 weeks 3 hours 12 weeks 1 hour

Answer 105

Anterior 10-14 M

Answer 106

Mandibular first Central incisors 5-7M

Answer 107

Large mucoele, bluish, painless, soft, unilaternal Usually self resolve, if not surgical removal

Answer 108

Intellectual disability

Answer 109

Genes are selectively expressed from the maternal or paternal allele on a chromosome Either maternal or paternal allel only is expressed Inactive allele is epigenetically marked by histone modificiation, DNA methylation or both

Answer 110

Non progressive congenital joint contractures Decreased fetal movement

Answer 111

Deletion of short arm of chromosome 5 Growth retardation, microcephaly, severe MR

Answer 112

Cardiac 40-50 Thryoid 2

Answer 113

GI malformations Cryptorchidism Lens opacites and cataracts Strabismus Hearing Loss

Answer 114

RR after one affected 3-4% RR after two affected 8-9%

Answer 115

Defect in hepatic enzyme phenylalanine hydroxylase Accumulation of phenylalanine with toxic consequences Microcephaly, early DD, later seizures Musty smelling, albinism Treatment: dietary elimination of phenylalanine

Answer 116

Progressive and multisystemic Most common: Leigh syndrome

Answer 117

PKU Maple syrup urine Glutaric aciduria II Tyrosinemia 1 Cystinuria

Answer 118

Long face Long everted ears Prominent madinble Large Forehead

Answer 119

Coarctation of the aorta

Answer 120

1. Hyperammonemia: secondary to defective protein/amino acid metabolism --\> increases respiratory drive and leads to.... 2. Respiratory alkalosis: secondary to hyperventilation 3. Elevated lactate

Answer 121

Lethargy Poor feeding Encephalopathy (secondary to high ammonia levels) Intracranial hemorrhage (secondary to coagulation defects) \*\*\* short span of time from first symptoms to irreversible brain damage

Answer 122

1. NPO --\> stop all protein intake to reduce catabolism 2. Reverse catabolic state: give glucose IV, hydration 3. Call metabolics 4. Give Arginine or Citrulline to replenish urea cycle intermediates, give carnitine, phenylacetate and sodium benzoate (provides alternate pathway for urea cycle) 5. Monitor bloodwork closely: if ammonia \>500 or q2h continues to worsen, consider ECMO or dialysis 6. Can consider giving lactulose to remove ammonia in bowel \*\*\*Call metabolics anytime an ammonia is abnormal in an unwell child

Answer 123

Sampling error

Answer 124

Imprinting - sporadic mutation on Chromosome 15q11 -missing paternal gene (Angelman syndrome is the equivalent)

Answer 125

1. Severe obesity secondary to uncontrolled eating 2. Downward turned, small mouth 3. Almond shaped eyes 4. Bitemporal narrowing 5. Hypotonia in infancy 6. Mild-moderate cognitive impairment 7. Short stature - may have GH deficiency

Answer 126

Imprinting - sporadic mutation on chromosome 11p15 -missing maternal gene OR can be due to methylation issues (Russell-Silver syndrome is the equivalent) -leads to overactivity of IGF (insulin growth factor) gene hence the overgrowth seen clinically

Answer 127

1. Macrosomia 2. Ear pitting 3. Abdominal wall defects: omphalocele 4. Macroglossia 5. Hypoglycemia as neonate/infant 6. Increased risk of abdominal tumors: neuroblastoma, WIlms tumor 7. Cardiomegaly 8. Hemihypertrophy 9. Normal development

Answer 128

1. AFP q3months until 4 years old to look for hepatoblastoma 2. AUS q3months until 8 yo 3. Periodic CXR and urine HVA/VMA to look for neuroblastoma 4. Screening ECHO as infant

Answer 129

Imprinting - chromosome 15q11 (maternal gene missing)

Answer 130

Imprinting - chromosome 11 - equivalent is Beckwith-Wiedemann (think one is BIG and one is LITTLE) - one of 200 types of dwarfism

Answer 131

1. Triangular face due to narrow chin 2. Short stature - can use growth hormone replacement 3. Immature bone age, late AF closure 4. Clinodactyly 5. Risk of hypoglycemia secondary to decreased substrate 6. Diaphoresis \*\*can often be mistaken to have hydrocephalus because of open fontanelle and big head compared to body size

Answer 132

Think "male Turners" in terms of clinical features (no relation to the X chromosome though) 1. Can be normal or have mild-moderate mental disability/learning disorders 2. Hypertelorism 3. Epicanthal folds 4. Low set ears 5. Neck webbing 6. Ptosis 7. Low posterior hair line 8. Wide spaced nipples 9. Scoliosis 10. Risk for Arnold Chiari type 1 11. 80% have cardiac defects: think RIGHT SIDED HEART PROBLEMS = pulmonary valve stenosis most common 12. Cryptorchidism 13. Mild coagulation defects 14. At risk for leukemia/myeloproliferative disorders 15. Short

Answer 133

Pulmonary valve stenosis

Answer 134

1. Prenatal cystic hygroma leads to NECK webbing once it involutes 2. Low posterior hairline as well 3. Low set ears 4. Wide spaced nipples 5. Wide carrying angle 6. Shield chest 7. Short stature 8. Cardiac defects: (think LEFT sided defects) bicuspid aortic valve, coarctation of aorta 9. Peripheral lymphedema 10. Hypothyroidism 11. Ovarian failure

Answer 135

Hypoketotic hypoglycemia with prolonged fasting or concurrent illness - long chain fatty acid transport defect THUS cannot make ketones from fatty acid oxidation - lab findings: mildly elevated liver enzymes and mildly elevated ammonia

Answer 136

- Skin biopsy for fibroblast assay that assesses carnitine transport OR molecular genetic study - Complications: irreversible cardiomyopathy and skeletal muscle dysfunction - Treatment: Levocarnitine supplementation

Answer 137

Thrombocytopenia with absent radii

Answer 138

Essential energy-producing pathway: particularly important during prolonged fasting or reduced caloric intake due to GI illness or increased energy usage during febrile illness - body switches from carbs to fat as major source of fuel - fatty acids are important fuels for skeletal muscle and preferred substrate for the heart - also used in liver and brain

Answer 139

Autosomal recessive

Answer 140

1. Liver 2. Skeletal muscle 3. Heart

Answer 141

Hypoketotic hypoglycemia due to defective hepatic ketogenesis during prolonged periods of fasting or GI illness -can also get chronic cardiomyopathy, muscle weakness, rhabdomyolysis

Answer 142

MCAD (medium chain acyl CoA dehydrogenase deficiency)

Answer 143

Episodes of acute illness triggered by prolonged fasting - vomiting, lethargy rapidly progressing to coma, seizures or shock - lab findings: 1. Hypoketotic hypoglycemia 2. Normal gas (no metabolic acidosis since there are no ketones) 3. Elevated liver enzymes and liver function tests 4. Elevated ammonia

Answer 144

1. Stat glucose and immediate initiation of D10W solution to treat or prevent hypoglycemia 2. Avoid prolonged fasting

Answer 145

MCAD: no cardiomyopathy or cognitive impairment VCAD: have chronic cardiomyopathy, rhabdomyolysis -overall, more severely affected than MCAD patients

Answer 146

1. Serum amino acids 2. Gold standard: enzyme assay from liver biopsy or cultured fibroblasts from skin

Answer 147

1. INFERIOR ectopia lantis 2. Hypercoagulability

Answer 148

Polysomnography and head MRI to visualize the spinal cord in the area of the foramen magnum! - increased risk for central apnea secondary to arterial compression at the level of the foramen magnum - look also for signs of hypotonia or ankle clonus that might be suggestive of spinal cord compression - unexpected death can occur secondary to central apnea in 2-5% of infants with achondroplasia

Answer 149

- Cervical cord problems due to spinal stenosis - Progressive thoracolumbar kyphosis

Answer 150

FGFR3 gene with single amino acid substitution at position 380

Answer 151

Hypoglycemia: 1. Glycogen storage type I 2. Fructose-1,6-bisphosphatase deficiency Normoglycemia: 1. Mitochondrial disorders 2. Pyruvate dehydrogenase deficiency

Answer 152

Hurler syndrome (type of mucopolysaccharidoses)

Answer 153

1. Tyrosinemia 2. Homocystinuria 3. Nonketotic hyperglycemia 4. Maple syrup urine diseas 5. PKU

Answer 154

Classic form: deficiency of phenylalanine hydroxylase enzyme (responsible for converting phenylalanine into tyrosine) - nonclassic form: deficiency in synthesis of biopterin which is required for adequate PAH enzyme function - mode of inheritance: autosomal recessive - clinical features: 1. Eczema 2. Hypopigmentation 3. Seizures 4. Limb spasticity 5. Severe intellectual disability 6. Mousy odor to urine - testing: measure plasma level of phenylalanine; if high, then order biopterin levels to rule out biopterin deficiency as cause of PKU - treatment: 1. Phenylalanine restricted diet for life: if adherent, excellent outcome and normal intelligence 2. Synthetic biopterin

Answer 155

- elevated phenylalanine has teratogenic effects on fetus!! 1. Microcephaly 2. Growth retardation 3. Developmental delay 4. Congenital heart disease

Answer 156

Liver -get liver synthetic function resulting in jaundice, coagulopathy

Answer 157

\*\*\*Think liver, kidney, CNS! Aka Hepatorenal tyrosinemia: deficiency of FAH enzyme -toxicity occurs due to accumulation of metabolites proximal to FAH enzyme step -clinical features: 1. Liver failure with synthetic dysfunction: conjugated jaundice, coagulopathy, cirrhosis 2. Kidney: proximal renal tubular dysfunction leading to hypophosphatemic rickets 3. GI: failure to thrive 4. Neuro: parethesias, seizures, paralysis Treatment: Dietary restriction of tyrosine and phenylalanine +/- liver transplant -can also use drug NTBC to block upstream pathway of tyrosine metabolism leading to accumulation of less toxic metabolites

Answer 158

Aka oculocutaneous disorder: deficiency of tyrosine aminotransferase leading to accumulation of tyrosine and phenolic acids - clinical features: 1. Eyes: photophobia, decreased tear production, corneal ulceration, scarring 2. Skin: Crusted, hyperkeratotic lesions on palms and soles 3. Neurologic: seizures, behavioural abnormalities, dev delay Treatment: dietary restriction of tyrosine and phenylalanine

Answer 159

Organic acidemia! -Deficient activity of branched-chain amino-acid alpha-ketoacid dehydrogenase (BCKD) - accumulation of branched chain amino acids (leucine, isoleucine, valine) = leucine is NEUROTOXIC! - clinical features (variable according to level of functional enzyme present): 1. Severe forms: present in infancy with lethargy, vomiting, hypotonia, opisthotonas, seizures 2. Intermediate enzyme levels: episodic neurologic decompensation especially during catabolic stress during intercurrent illness \*\*\*hyperammonia, metabolic acidosis with anion gap Treatment: restriction of intake of BCAA \*\*\*\*name is derived from the sweet smelling urine of these patients

Answer 160

Deficiency of cystathionine betasynthase - accumulation of homocystine since cannot be converted to cystathionine - pyridoxine is a cofactor for this enzyme Clinical features: 1. Inferior ectopia lantis (eye lens dislocation) 2. Intellectual disability 3. Marfanoid body habitus 4. Osteoporosis 5. Hypercoagulability Treatment: 1. 50% of patients will respond to pyridoxine supplementation 2. Dietary restriction of methionine, addition of cystine supplements

Answer 161

(The rest are autosomal recessive in inheritance) -OTC (ornithine transcarbamylase) deficiency is the only one that is X-linked

Answer 162

1. Gas 2. Ammonia level 3. Urine organic acids 4. Serum amino acids (will see elevation of glutamine and glycine = excess nitrogen is stored this way)

Answer 163

\*\*\*Involve metabolism of BCAA, autosomal recessive - Clinical features: 1. Metabolic decompensation in neonatal period or failure to thrive and developmental delay in childhood period 2. Peculiar body odor similar to sweaty feet 3. Cerebral events leading to basal ganglia abnormalities 4. Renal tubular acidosis 5. Pancreatitis 6. Cardiomyopathies Tests to order: 1. Gas: increased anion gap metabolic acidosis 2. Urinalysis: may see ketones 3. Hyperammonia 4. Glucose: can be high, normal or low 5. Acylcarnitine profile 6. Urine organic acids Treatment: 1. Restrict protein intake 2. Carnitine supplementation (provides alternate methods of propionic acid and methylmalonic acid secretion) 3. Possible vitamin B12 supplementation (may be effective for some patients with methylmalonic aciduria)

Answer 164

Organic acid metabolism disorder: think NEURO! 1. Basal ganglia infarcts 2. Subdural hematomas 3. Cerebellar and frontotemporal atrophy 4. Macrocephaly

Answer 165

During prolonged fasting!!! (either intentional or secondary to intercurrent illness)

Answer 166

Fatty acids

Answer 167

1. Acylcarnitine profile 2. Urine acylglycines 3. Urine organic acids 4. Serum and urine ketones (betahydroxybutarate, acetoacetate)

Answer 168

Deficiency of fructose 1, 6-bisphosphate aldolase - when patients are exposed to fructose: 1. GI upset 2. Seizures 3. Coma 4. Liver failure 5. Renal failure - treatment: fructose and sucrose free diet

Answer 169

1. Muscle 2. Liver

Answer 170

Myopathy, cardiomyopathy, hepatomegaly -enzyme replacement therapy can extend life expectancy

Answer 171

SLOS = disorder of cholesterol biosynthesis 1. Developmental delay 2. Syndactyly of 2nd and 3rd toes 3. Heart defects (ASD, VSD, AVSD) 4. Kidney malformations, hypospadias 5. Microcephaly 6. Brain malformations: agenesis of corpus callosum 7. GI malformations (ie. Hirschsprung)

Answer 172

(Abnormally glycosylated proteins with multiorgan system dysfunction) Inverted nipples!

Answer 173

1. X linked adrenoleukodystrophy 2. Childhood Addison disease 3. Zellweger syndrome

Answer 174

Severe disease caused by disruption of biogenesis of the entire peroxisome - facial dysmorphism - large anterior fontanelle - hypotonia - bony calcific stippling of joints - liver dysfunction - early death

Answer 175

Hunter syndrome does NOT have cataracts!

Answer 176

Order DNA testing on his sister to rule out fragile X - she may be a carrier - heterozygous female carriers: can have behavioural difficulties, cognitive impairment, developmental delay - DNA testing is recommended for ALL sisters of male patients with fragile X

Answer 177

DNA testing looking for expansion of triplet DNA repeat on FMR1 gene on X chromosome

Answer 178

Presence of typical clinical features OR hx of CF in a sibling OR positive newborn screening test \*\*\*PLUS\*\*\* Lab evidence of CFTR dysfunction: 2 elevated sweat chloride concentrations obtained on separate days OR ID of two CF mutations from each parental allele OR abnormal nasal potential difference measurement

Answer 179

4% for a couple with 1 affected child -9% with 2 affected children

Answer 180

47XXY 1. Behavioural or psychiatric disorders -learning disabilities 2. Body habitus: tall, slim and underweight with long legs (out of proportion to arms), gynecomastia, small testes/phallus for age 3. Delayed puberty: elevated FSH and LH, low testosterone levels, elevated estradiol 4. Increased risk of breast cancer 5. Decreased fertility \*\*\*\*key feature: the testes NEVER reach pubertal stage (ie.

Answer 181

Aka fetal dilantin syndrome = teratogenic effects of in utero exposure to phenytoin - clinical features: 1. Microcephaly 2. Hypoplasia of nails or distal phalanges 3. Developmental delay 4. Cardiac defects 5. Cleft lip and palate 6. Dysmorphic facial features: broad nasal bridge, wide fontanel, low set hairline

Answer 182

\*\*\*\*Hyperammonemia with: 1. Acidosis = organic acid disorder (methylmalonic aciduria, proprionic aciduria) 2. Alkalosis = urea cycle defect 3. Hypoglycemia = fatty acid oxidation defect

Answer 183

1. Hyperinsulinemia 2. Fatty acid oxidation defect

Answer 184

Lactic acidosis

Answer 185

- Cytogenetic testing looks at big picture chromosome (aka like a karyotype); can diagnose down syndrome or turners for example = ex. missing or extra books in an encyclopedia collection - microarray is a bit more specific than cytogenetic testing, looking for deletions or duplications (like DiGeorge for example); order this if you have a dysmorphic child or heart defect = ex. missing or extra chapters in a specific encyclopedia book - molecular DNA analysis: looks at DNA specifically, very detailed, looks at specific mutations (like looking for specific CF gene mutations) = ex. missing or extra pages in a chapter of an encyclopedia book

Answer 186

1. Nondisjunction (47XY): 95% of cases 2. Robertsonian translocation (46XYt14;21): 4% of cases - this has recurrence risk 3. Mosaicism (46XY): 1%

Answer 187

1. TSH/FT4 2. ECHO 3. Hearing test: brainstem auditory evoked potentials response +/- f/u in 3 months depending

Answer 188

At birth, 6 mo, 12 mo, yearly -need to ECHO before sending home a Down Syndrome patient

Answer 189

1. Cardiac issues 2. Duodenal atresia 3. Hirschsprung's 4. Imperforate anus 5. TEF 6. Annular pancreas

Answer 190

Congenital scoliosis - need AUS EARLY!!!!! (to rule out visceral and GU anomalies) (unilateral renal agenesis, ureteral duplication, horseshoe kidney, genital anomalies) - MRI spine needed later on: spinal dysraphism, tethering of cord

Answer 191

Inheritance: autosomal dominant - Clinical features: 1. Heterochromic irises (different colors) 2. Sensorineural hearing loss: NEED HEARING TEST 3. White forelock 4. Dystopia canthorum: makes eyes look wide apart

Answer 192

1. Thiamine 2. Carnitine

Answer 193

Submucosal cleft palate! Stick your fingers in their mouth and feel because this can lead to speech problems and feeding problems

Answer 194

1. NF-1 2. Achondroplasia 3. Myotonic dystrophy 4. Hereditary angioedema

Answer 195

1. Galactosemia 2. Hereditary fructose intolerance

Answer 196

B-glucocerebrosidase deficiency = abnormal accumulation of glucocerebroside in reticuloendothelial system 1. Bone marrow infiltration with glucocerebroside = pancytopenia 2. HSM 3. Erlenmeyer flash appearance of long bones - dx: biopsy skin/liver and see absence of glucocerebroside activity

Answer 197

Thyroid dysgenesis

Answer 198

Asphyxiating thoracic dystrophy = short stature, long and narrow thorax, hypoplastic lungs, liver fibrosis, short limbs

Answer 199

1. Craniosynosthosis (usually coronal) 2. Proptosis 3. Brachycephaly 4. Hypertelorism 5. Strabismus 6. Beak nose 7. Midface hypoplasia 8. High arch palate

Answer 200

Retinoblastoma = 15-90% develop osteosarcoma!

Answer 201

Holt Oram syndrome -abnormalities in the upper extremities, hypoplastic radii, thumb abnormalities, cardiac anomalies, occasionally missing pectorals major muscle

Answer 202

1. Fragile X 2. Friedreich Ataxia 3. Myotonic dystrophy

Answer 203

Down Syndrome

Answer 204

Trisomy 18

Answer 205

Amniocentesis: - done at 15-18 weeks - lower risk of pregnancy loss (0.1%) CVS: done at 12-15 weeks -higher risk of pregnancy loss (1%)

Answer 206

Deletion of short arm of chromosome 5 = get cat like cry from tracheal hypoplasia, low birth weight, postnatal failure to thrive, craniofacial abnormalities

Answer 207

**Definition:**Partial arousal parasomnias **Timing**:Occur in the first part of the night (stage 3 or 4 sleep)/NON REM sleep **Age/Sex:**Commonly seen in ages 2-7 yrs, boys more than girls **Clinical manifestations:** - child screams; appears terrified; - unresponsive, agitated, thrashing around - increases with attempts to be consoled; little or no vocalization - dilated pupils, tachycardia, tachypnea, **Diagnosis:** by history +/- EEG to rule out seizures **Treatment:** 1. More distressing to parents than to child (they don’t remember) **reassurance!** 2. Older children with persistence, l**ook for psychologic etiologies**(can **consider benzos** while being investigated) 3. **Scheduled awakenings–** - occur on a nightly basis - awaken child 15 minutes prior to the usual time of occurrence may alter the sleep state and abort the event

Answer 208

Predominantly in girls, 1 in 15,000 Mutationsin MeCP2 **Clinical features:** -Normal Development \< 1 yr, then regression language+ motor milestonesand acquired microcephaly **Neuro:** - Ataxic gait or fine tremor of hand movements early - Repetitive hand wringing movements, loss of purposeful and spontaneous use of the hands @ 2-3 yrs Autistic behavior is typical -GTC seizures-well controlled with anticonvulsants **Other:** - Feeding disorders, poor weight gain / FTT - Peculiar sighing respirations with intermittent periods of apnea **Prognosis:** - After the initial period of neurologic regression, the disease process appears to plateau - Death in adolescence or the 3rd decade (Cardiac AR’smay cause sudden death)

Answer 209

**Child seats reduce the risk of:** - fatal injury by 71%, - serious injury by 67% Using a **booster seat** reduces the risk of injury by 59%

Answer 210

1.Not using the **correct seat for the weight and/or height** of the child- (most prevalent) 2. **Seat not tightly secured to the vehicle** (moves more than 2.5 cm [1 inch] in any direction) 3.**Harness not snug** (more than one finger width fits between the harness strap and the child); and 4.**Chest clip not at armpit level**

Answer 211

**Stage 1: Rear-facing car seats** **Until 10 kg** (22 lb), **1 yr** AND able to walk N.B. All rearfacing car seats must be secured to the vehicle with the vehicle seat belt or the universal anchorage system (UAS) -LATCH system in US **Stage 2: Forward-facing car seats** - **Between 10 - 22 kg** (between 22 lbs and 48 lbs) N.B. 2007..upto 30 kg - **Up to 122 cm** (48 inches) **Stage 3: Booster seats** - **From at least 18 kg** (40 lb) - **Until 36 kg** (80 lb) N.B. Can be upto 45 kg (100 lb) **Stage 4: Seat belts (lap and shoulder)** -**Over 36 kg** (80 lb), 8 yrs, and fit seat belt **-Over 145 cm** (4 feet 9 inches).

Answer 212

1. A consistent routine- stable bedtime and morning wake time, 2. Age-appropriate number of hours in bed, 3. Dark and quiet sleep space, 4. Avoiding hunger, eating, excercise prior to sleep 5. Relaxation prior to bed: - Relaxation exercises - strict avoidance of TV, screen time etc - encouraging reading prior to bedtime

Answer 213

**Growth:** larger than normal usually until age 8, slows down, resulting in an average height in adults. 1. **Hemihypetrophy/gigantism** 2. **GIT: o**mphalocele, macroglossia or other abdominal wall 3. Hypoglycemia) in infancy 4. **Face:** creases or pits in the skin near the ears, and kidney abnormalities. **5. Tumors:** Wilms tumor, rhabdomyosarcoma, hepatoblastoma. **Genetics;** a. CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on **chromosome 11.** I b. caused by problems with the **genomic imprinting** of these genes. Genomic imprinting refers to having some genes that are active (expressed) only when inherited from the father and others that are active only when inherited from the mother. c. Less commonly, changes or mutations in the CDKN1C gene or larger changes to chromosome 11, such as a **translocation, deletion, or duplication**, may cause BWS. **Treatment:** - medication for hypoglycemia - surgery to repair an omphalocele or other birth defect, or -surgery to reduce size of the tongue (macroglossia repair). -Early intervention, speech therapy, occupational therapy, and physical therapy may also be recommended. - screening for the Wilms tumor (Require regular abdominal US until ~8y), rhabdomyosarcoma, and hepatoblastoma.