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Paediatrics Royal College > Develop/Genetics/Metabolics > Flashcards

Develop/Genetics/Metabolics Flashcards

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1
Q

If a newborn screening test is too sensitive, there will be an unacceptable number of

A

False positive

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2
Q

Mitochondrial disease

A

Multiple stems Muscle Brain Heart Lactate usually increased Maternal and nuclear inheritnce

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3
Q

2 day old vomiting, lethargic, breathing rapidly with a sat of 98%

A

Hyperammononemia

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4
Q

Resp alkalosis

A

Hyperammonemia

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5
Q

MCAD

A

Most common beta oxidation disorder Do not tolerate fasting, triggered by minor illness Nonketotic hypoglycemia

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6
Q

Karyotype

A

Trisomes and monosomies

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7
Q

FISH

A

Sub-microscope deletions

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8
Q

T21 inheritance

A

95% Free Trisomy 3-4% Unbalanced translocation 1-2% Mosaic trisomy 21

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9
Q

Severe hypotonia genetic DDX

A
  1. Prader willi 2. SMA 3. T21
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10
Q

Xm 15?

A

Angelman Prader willi

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11
Q

Achondroplasia

A

Proximal limb shortening

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12
Q

Triad of Beckwtih Wiedemann

A

EMG E: exomphylasos M-Macroglossia G-giagsntism (hemihypertrophy) AFP- Hepatoblastoma US-Wilms tumor

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13
Q

First year developmental problems

A

motor

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14
Q

Second year developmental problems

A

Talking and coordination

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15
Q

Third year developmental problems

A

Behavioural, problem solving and social

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16
Q

Key Motor Milestones

A

3 M: Head control 6 M: Arms 9M: Trunk 12M: Legs

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17
Q

Gross motor delay?

A

Do a CK?

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18
Q

Key Fine Milestones

A

4M: Transfer objects 6-8M: Palmar grasps 7-11M: Pincer grasp 2Year: Uses spoon 4-5Y: Snap, button, zipper

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19
Q

1st birthday

A

1st steps

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20
Q

Key speech and language milestones

A

2-4M: Visual attention 6-9M: Babbling 12M: Langauge emergence 2Y: 2 word combo: 1/2 intelligible 3Y: 3 word combo: 3/4 intelligible 4Y: Phrased speech 4/4 intelligible

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21
Q

Speech language pathology

A

Get audiology

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22
Q

Key cognitive milestones

A

Phonological awareness one to one correspondence-counting Letter reversals: Normal between 5-8 years Magic 8: Everything comes together

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23
Q

Key social and emotional milestones

A

Anxiety: Stranger 5-6M Separation 9-15M Monsters: 3-5Y Death 8-10Y Best friend 4-6Y

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24
Q

Key Play Milestones

A

Functional play 2-3Y imaginative play 3-5 years: reciprocal play 6 years: knock knock jokes

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25
Q

What does an average 18 month old do?

A

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

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26
Q

When to refer to developmental pediatrician

A

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

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27
Q

ASD Criteria

A

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 snesory input -Symptoms must be present in early childhood

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28
Q

If you are concerned about ASD, whats next?

A

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

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29
Q

Etiologies of CP in preterm infants

A

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

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30
Q

Etiologies of CP in term infants

A

50% Prenatal factors: malformations, rpenatal strokes, congenital TORCH infections 6% ASphyxia during birth:HIE Unknown

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31
Q

What is the most common cause of bilateral spastic CP?

A

PVL

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32
Q

Causes of bilateral two walking

A

Autism Diplegic CP Tethered cord DMD/Beckers Congenital contracture of the achilles tendon Tight heel cord Idiopathic toe walking

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33
Q

Sleep disorders approach to intervention

A

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

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34
Q

What are the characteristics of night terriors

A

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 **Wake up 15min prior

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35
Q

What is the work up for GDD?

A

Chromosomal microarray Fragile X MECP2 (Rett) Thyroid Lead and Ferritin Metabolic testing Neuroimaging, Eeg, Ophthalmology, Audiology

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36
Q

ADHD Management by age

A

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

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37
Q

Which is a true about methylphenidate: 1. Stimulated appetite 2. No effect on growth velocity 3. May exacerbate tics 4. May cause depedency 5. Effective in 80% children with ADHD

A

May exacerbate tics

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38
Q

What is a late onset side effect of stimulants? 1. Decreased appetite 2. Difficulty sleeping 3. Tics 4. Depression

A

Depression

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39
Q

FASD

A

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

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40
Q

FASD features

A

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

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41
Q

Universal newborn hearing screening CPS

A

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

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42
Q

What are the appropriate ratios for daycare?

A

3:1 for children

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43
Q

What is the key to discipline

A

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

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44
Q

What are things that be done to ease divorce?

A

Improving the quality of parenting Improving the quality of parent-child relationships Controlling hostile conflict

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45
Q

What SSRI have the most supporting data

A

Fluoxetine

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46
Q

Is routine ECG screening mandatory for ADHD meds?

A

No

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47
Q

Most common ADHD comorbidities?

A

ODD CD Anxiety disorder Mood Disorder

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48
Q

What are the contraindications to stimulants?

A

Glaucoma Symptomatic CVS disease Mod to severe HTN Hyperthyroidism

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49
Q

Features of munchausen by proxy?

A
  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
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50
Q

When is separation anxiety normal?

A

18-24 Months

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51
Q

What disorder is the most common inherited causing MR

A

Fragile X

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52
Q

What is the most common teratogen causing MR?

A

EtOH

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53
Q

What is the initial work up for MR?

A

Karotype Fragile X

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54
Q

What is a learning disability?

A

Discrepancy between a persons overall intellectual ability and actual academic performance

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55
Q

What is advanced paternal age associated with?

A

Achondroplasia Apert syndrome Marfan syndrome

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56
Q

What is advanced maternal age associated with?

A

All trisomies Some sex chromosomes

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57
Q

What can fat babies have?

A

Prader willi Beckwtih wiedeman Sotos Weaver Bardet-biedt IDM

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58
Q

What are the characteristics of carnitine deficiency?

A

-Crucial cofactor in the transport of long chain fatty acids -Present with kypoketotic hypoglycemia, lethargy, muscle weakness, cardiomyopathy

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59
Q

What are the characteristics of homocystinuria?

A

Slowly evolving clincalsyndrome Dislocated ocular lenses Long, slender extremities Malar flushin Livedo reticularis Mr, psychiatric illness Skeletal

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60
Q

What is the 22q11 acronym

A

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

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61
Q

22q11 facial features

A

Hypertelorism Antimongoloid slant Low set prominent ears Notched pinnae Reduce helix formation Micrognathia Short philtrum Bifid uvula High arched palate

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62
Q

What is galactosemia?

A

AR deficiency in GALT enzyme activity Presentswith feeding porblems, FTT, hepatocellular dmage, bleeding, sepsis Cataracts, live failure E coli sepsis

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63
Q

What is Kallman syndrome?

A

X linked, AR, AD Most common form of isolated gonadotropin deficiency Hyposmia, anosmia, microphallus, SN deafness

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64
Q

What is Waardenburg syndrome?

A

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

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65
Q

What is the triad of osteogenesis imperfecta?

A

Fragile bones Blue sclerae Early deafness

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66
Q

Beckwith-Wiedeman syndrome featured

A

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

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67
Q

What causes hypogonadism?

A

Kallman Prader Willi Bardet Biedl syndrome Septic Optic Dysplasia

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68
Q

Features of Prader Willi

A

H30 Hyperphagia Hypotonia Hypopigmentation Obesity

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69
Q

What criteria must be met to diagnose a child with autism?

A
  1. Impairment in social interaction 2. Impairment in communication 3. Restricted, repetitive sterotyped patterns of behaviour and interests
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70
Q

What evaluations are required in medical evaluation of children with pervasive developmental disorders? (7)

A
  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
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71
Q

What is the risk for recurrence of autism?

A

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

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72
Q

What are the 4 types of hearing loss?

A
  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
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73
Q

What is the treatment of ADHD? (3 main domains)

A
  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
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74
Q

What is the protocol for starting psychostimulant medications for chidlren with ADHD? -different types of psychostimulants

A

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

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75
Q

What are the guidelines for cardiac screening in psychostimulant medication?

A

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

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76
Q

What are the most common side effects of psychostimulant medication?

A
  1. Appetite suppression 2. Mild sleep disturbance 3. Tics (unmasking)
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77
Q

What are the clinical features of oppositonal defiant disorder? -clinical features of conduct disorder?

A

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

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78
Q

What is the treatment for oppositional defiant disorder? -treatment for conduct disorder?

A

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.)

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79
Q

A child in your practice has expressive language delay. What does this put him at risk for later?

A

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

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80
Q

What are potential neurological sequelae of HIV in young infants and toddlers from perinatal transmission?

A

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

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81
Q

What percentage of normal children have head banging? -when is it associated with developmental delay? -what is the treatment?

A

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)

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82
Q

What is the differential diagnosis for ectopia lantis? -causes of superior vs. inferior ectopia lantis?

A
  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
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83
Q

Contraindications to stimulant medications? (6)

A
  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
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84
Q

What is the treatment for stuttering in 3 yo?

A

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

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85
Q

What is on the differential diagnosis for microcephaly? (5)

A
  1. Intrauterine infection 2. Premature closure of sutures 3. Chromosomal abnormalities 4. Metabolic disorders 5. Perinatal insult
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86
Q

When do you stop using corrected GA to assess development/growth in premature babies?

A

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

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87
Q

At what age is it a developmental red flag to not have walked by? What about talked a single word?

A

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

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88
Q

What are the two types of parasomnias?

A
  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
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89
Q

What are clinical features of sleep walking? -treatment?

A
  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
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90
Q

If retinal hemorrhages occur as result from traumatic birth, at what age should they have resolved by?

A

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

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91
Q

What are the MINIMUM amount of words a child should have at 15 months or else they should get referred? -at 24 months?

A

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

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92
Q

When does the parachute reflex appear? Does it disappear?

A

Appears at 8 months and does NOT disappear

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93
Q

List the protective reflexes (development of equilibrium)/

A

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

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94
Q

When does the following disappear: -moro -hand grasp

A

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

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95
Q

How long is a sleep cycle for a baby? -sleep-onset association disorder: what is this?

A

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

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96
Q

At what age does separation anxiety typically occur?

A

18 M

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97
Q

What are the 5 abilities children should have before starting toilet training? -what age should you consider toilet training?

A
  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
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98
Q

What are the two types of breath holding spells? -when do spells usually begin? -treatment?

A

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

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99
Q

How long does it take for babies born with IUGR to catch up with growth?

A

2 Y

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100
Q

What is the chance of recurrence of depression once a patient is taken off anti-depressants?

A

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

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101
Q

What are the side effects of SSRIs? (7)

A
  1. Irritability 2. GI upset with decreased appetite 3. Restlessness 4. Diaphoresis 5. Sleep disturbance 6. Headaches 7. Sexual dysfunction
102
Q

What are the most common comorbidities associated with OCD? (3) -what are modes of treatment?

A
  1. Anxiety 2. Depression 3. Tics Treatment: 1. CBT OR 2. CBT + SSRI for severe
103
Q

What is the most common learning disability with an associated normal IQ? -what is the underlying issue? -clinical features?

A

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

104
Q

What is the treatment for dyslexia?

A
  1. Phoenetic awareness: develop ability to focus and manipulate sound 2. Practice sounding out letters 3. Fluency: guided repeated oral reading
105
Q

What is the definition of amblyopia? -causes? -diagnosis? -treatment?

A

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

106
Q

What are comorbidities associated with CP? (6)

A
  1. Behavioural disturbance (decreased attention, impulsivity, distractbility) 2. Strabismus 3. Hearing impairment 4. Seizures 5. Oral-motor dysfunction 6. Learning disabilities/communication disorders
107
Q

What is the most sensitive early marker of intellectual disability?

A

Impaired language development

108
Q

What is the definition of colic?

A

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

109
Q

After what age does diurnal enuresis become abnormal? -nocturnal enuresis?

A

Diurnal = age 4 Nocturnal = age 6

110
Q

What is Kleine-Levin syndrome?

A

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

111
Q

In what phase of sleep does sleep walking occur?

A

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

112
Q

What are 3 effective methods to prevent child abuse?

A
  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
113
Q

What are the criteria for a panic attack?

A

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

114
Q

What is the differential diagnosis for anxiety

A
  1. Hyperthyroidism 2. Pheochromocytoma 3. Arrhthymias 4. Ingestion 5. Caffeine 6. Hypoglycemia 7. Asthma 8. Lead poisoning 9. Migraines 10. CNS tumor
115
Q

What medications can mimic anxiety?

A
  1. Stimulants 2. Cold and flu medications 3. Sympathomimetics 4. Ventolin/steroids 5. SSRIs
116
Q

What percentage of children presenting with depression will end up being bipolar disorder? -what are medical treatment options for bipolar disorder?

A

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

117
Q

In children with separation anxiety, what condition are they at increased risk of developing in the future? -treatment of separation anxiety?

A

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

118
Q

What condition is trichotillomania most related to? -what does the hair look like? (aka how can you differentiate between other causes of alopecia)

A

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

119
Q

What are clinical features of social phobia/social anxiety disorder? -what are clinical features of avoidant personality disorder?

A

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

120
Q

What are side effects of risperidone? (9)

A
  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
121
Q

What are clinical features of PTSD? (4)

A
  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
122
Q

A 2 yo presents with temper tantrums. What advice do you want to give mom?

A
  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
123
Q

What is an easy way to remember average head circumferences?

A

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

124
Q

What is the diagnostic criteria for inattention subtype of ADHD?

A

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

125
Q

What is the diagnostic criteria for hyperactivity/impulsivity subtype of ADHD?

A

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

126
Q

What neurological disorders are associated with autism? (5)

A
  1. Fragile X 2. FASD 3. NF 4. Rett’s syndrome 5. Down syndrome
127
Q

What is the treatment for persistant or injurious headbanging?

A
  1. Behavioural therapy is first line 2. If fails, SSRI
128
Q

What are the diagnostic criteria for anorexia nervosa?

A
  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.
129
Q

Name 6 radiological signs consistent with abuse.

A
  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
130
Q

What are reasons for referral to SLP in a stuttering child? (4) -more common in boys vs. girls?

A
  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
131
Q

What is your differential diagnosis for a child who is having difficulty in school? (5)

A
  1. Absence seizures 2. Obstructive sleep apnea 3. ADHD 4. Learning disability 5. Hearing impairment
132
Q

ADHD Boys or girls? Inheritibility?

A

Boys high rate of inheritibility

133
Q

What are the “I” essentials of ADHD?

A

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

134
Q

How much do babies cry per day?

A

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

135
Q

When do the fontanelles close?

A

Anterior 10-14 M

136
Q

What is the most common type of craniosynostosis?

A

Sagittal

137
Q

Teeth eruption

A

Mandibular first Central incisors 5-7M

138
Q

Ranula?

A

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

139
Q

When does handedness develop?

A

18-24M

140
Q

What is the new official term for MR?

A

Intellectual disability

141
Q

When do babies make tears?

A

2-4M

142
Q

When is eye colour permanent?

A

6M-1Y

143
Q

What is genetic imprinting?

A

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

144
Q

What is arthrogryposis congenita?

A

Non progressive congenital joint contractures Decreased fetal movement

145
Q

What is the most common genetic lethal condition

A

CF

146
Q

Supravalvuar AS Small and AN N primary teeth Low tone with joint laxity Elevated CA

A

Williams

147
Q

WHat is the chromosomal abN in cri-du-chat

A

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

148
Q

What proportion of downs have 1: Cardiac 2: Thyroid

A

Cardiac 40-50 Thryoid 2

149
Q

Downs at risk of in early infancy?

A

GI malformations Cryptorchidism Lens opacites and cataracts Strabismus Hearing Loss

150
Q

Most common malignancy in Downs?

A

Leukemia

151
Q

Which is correct Downs or Down syndrome?

A

Down

152
Q

Inheritance of cleft lip?

A

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

153
Q

What are the features of PKU?

A

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

154
Q

8 month old presenting with vomiting, lethargy, hypoglycemia, no ketones on urinalysis?

A

MCAD FAOD

155
Q

When should you suspect a metabolic condition?

A

Progressive and multisystemic Most common: Leigh syndrome

156
Q

Smells to diseases: Musty Maple syrup Sweaty feet Cabbage Rancid Butter Sulhpur

A

PKU Maple syrup urine Glutaric aciduria II Tyrosinemia 1 Cystinuria

157
Q

Noonan Turner differences?

A
158
Q

Fragile X facial features?

A

Long face

Long everted ears

Prominent madinble

Large Forehead

159
Q

What is the most common cardiac defect seen in Turner’s syndrome?

A

Coarctation of the aorta

160
Q

What lab values do you see in urea cycle defect?

A
  1. Hyperammonemia: secondary to defective protein/amino acid metabolism –> increases respiratory drive and leads to….
  2. Respiratory alkalosis: secondary to hyperventilation
  3. Elevated lactate
161
Q

What are clinical signs and symptoms of urea cycle defect?

A

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

162
Q

Emergent management of acutely unwell patient with suspected urea cycle defect?

A
  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

163
Q

What is the most likely cause of hyperammonemia in a well child with a normal gas?

A

Sampling error

164
Q

What is the genetic basis of Prader Willi syndrome?

A

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

165
Q

What are the distinctive physical and behavioural features of Prader Willi syndrome?

A
  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
166
Q

What is the genetic basis for Beckwith-Wiedemann syndrome?

A

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

167
Q

What are the clinical features of Beckwith-Wiedemann syndrome?

A
  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
168
Q

What are the surveillance guidelines for Beckwith-Wiedemann syndrome?

A
  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
169
Q

What is the genetic basis of Angelman syndrome?

A

Imprinting - chromosome 15q11 (maternal gene missing)

170
Q

What are clinical features of Angelman syndrome?

A
171
Q

What is the genetic basis of Russell-Silver syndrome?

A

Imprinting - chromosome 11

  • equivalent is Beckwith-Wiedemann (think one is BIG and one is LITTLE)
  • one of 200 types of dwarfism
172
Q

What are clinical features of Russell-Silver syndrome?

A
  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

173
Q

What are the clinical features of Noonan’s syndrome?

A

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
174
Q

What is the most common cardiac defect in Noonan’s syndrome?

A

Pulmonary valve stenosis

175
Q

What is the genetic basis for Turner’s Syndrome?

A

45XO

176
Q

What are the clinical features of Turner’s Syndrome?

A
  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
177
Q

What is the hallmark sign of primary carnitine deficiency?
-what laboratory findings can be seen with primary carnitine deficiency?

A

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
178
Q

How do you diagnose primary carnitine deficiency?
What are the complications of primary carnitine deficiency if left untreated?
What is the treatment of primary carnitine deficiency?

A
  • Skin biopsy for fibroblast assay that assesses carnitine transport OR molecular genetic study
  • Complications: irreversible cardiomyopathy and skeletal muscle dysfunction
  • Treatment: Levocarnitine supplementation
179
Q

What is TAR syndrome?

A

Thrombocytopenia with absent radii

180
Q

Why is mitochondrial beta-oxidation of fatty acids so important to our survival?
-when is it particularly important?

A

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
181
Q

What is the inheritance pattern of fatty-oxidation defects?

A

Autosomal recessive

182
Q

Which 3 tissues are most affected by fatty acid oxidation defects?

A
  1. Liver
  2. Skeletal muscle
  3. Heart
183
Q

What is the most common presentation of a fatty acid oxidation defect?
-other clinical features?

A

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

184
Q

What is the most common fatty acid oxidation disorder?

A

MCAD (medium chain acyl CoA dehydrogenase deficiency)

185
Q

What are the clinical features of MCAD?
-lab findings? (4)

A

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
186
Q

What is the acute management of acute illness in MCAD?

A
  1. Stat glucose and immediate initiation of D10W solution to treat or prevent hypoglycemia
  2. Avoid prolonged fasting
187
Q

What clinical prognostic feature differentiates MCAD from VLAD?

A

MCAD: no cardiomyopathy or cognitive impairment

VCAD: have chronic cardiomyopathy, rhabdomyolysis
-overall, more severely affected than MCAD patients

188
Q

What are the diagnostic tests for homocytinuria?

A
  1. Serum amino acids
  2. Gold standard: enzyme assay from liver biopsy or cultured fibroblasts from skin
189
Q

What are clinical features for homocytinuria?

A
  1. INFERIOR ectopia lantis
  2. Hypercoagulability
190
Q

A newborn baby has just been diagnosed with achondroplasia. What test should you perform before discharging the baby from hospital?

A

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
191
Q

What MSK issues do children with achondroplasia typically develop?

A
  • Cervical cord problems due to spinal stenosis
  • Progressive thoracolumbar kyphosis
192
Q

What gene is responsible for 99% of achondroplasia cases?

A

FGFR3 gene with single amino acid substitution at position 380

193
Q

What metabolic conditions will present with significant lactic acidosis and hypoglycemia? (2)
-what about significant lactic acidosis with normoglycemia? (2)

A

Hypoglycemia:

  1. Glycogen storage type I
  2. Fructose-1,6-bisphosphatase deficiency

Normoglycemia:

  1. Mitochondrial disorders
  2. Pyruvate dehydrogenase deficiency
194
Q

A child presents with unusual coarse facies, depressed bridge of the nose, open mouth and large tongue. His hands are spade-like, his abdomen protrudes and an umbilical hernia is present. What syndrome does he most likely have?

A

Hurler syndrome (type of mucopolysaccharidoses)

195
Q

A patient presents with port-wine urine and photosensitzation. What condition do they most likely have?

A

Porphyria

196
Q

A patient presents with mousy urine odor. What condition do they most likely have?

A

PKU

197
Q

What are the 5 most common disorders of amino acid metabolism?

A
  1. Tyrosinemia
  2. Homocystinuria
  3. Nonketotic hyperglycemia
  4. Maple syrup urine diseas
  5. PKU
198
Q

What is the underlying cause of phenylketonuria?

  • classic vs. non-classic?
  • mode of inheritance?
  • clinical features? (6)
  • testing?
  • treatment?
A

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
199
Q

A mother with uncontrolled PKU delivers a baby. What clinical features is baby most likely to have?

A
  • elevated phenylalanine has teratogenic effects on fetus!!
    1. Microcephaly
    2. Growth retardation
    3. Developmental delay
    4. Congenital heart disease
200
Q

What organ is most commonly affected in tyrosinemia type I?

A

Liver
-get liver synthetic function resulting in jaundice, coagulopathy

201
Q

What are the clinical features of tyrosinemia type I?
-treatment?

A

***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

202
Q

What are the clinical features of tyrosinemia type II?
-treatment?

A

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

203
Q

What is the underlying cause of maple syrup urine disease?

  • clinical features
  • treatment:
A

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

204
Q

What is the underlying cause of homocystinuria?

  • clinical features (5)
  • treatment?
A

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
205
Q

Which urea cycle defect disorder is the only one that is inherited in an X-linked manner?

A

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

206
Q

What tests should be ordered to rule out urea cycle defect disorder? (3)

A
  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)
207
Q

What are the clinical features of propionic/isovaleric/methylmalonic aciduria (organic acid metabolism disorder)?

  • what tests should be ordered to diagnose an organic acid disorder? (6)
  • treatment?
A

***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)
208
Q

What are clinical features of glutaric aciduria type 1 disorder? (4)

A

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

209
Q

When are patients with fatty acid oxidation defects most likely to present?

A

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

210
Q

What is the preferred energy source for the myocardium?

A

Fatty acids

211
Q

What tests should be ordered in diagnosis of fatty acid metabolism disorders? (4)

A
  1. Acylcarnitine profile
  2. Urine acylglycines
  3. Urine organic acids
  4. Serum and urine ketones (betahydroxybutarate, acetoacetate)
212
Q

What is the underlying defect in hereditary fructose intolerance?

  • clinical features?
  • treatment?
A

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
213
Q

What two tissues of the body are most commonly involved in glycogen storage disease?

A
  1. Muscle
  2. Liver
214
Q

What are the clinical features of Pompe disease?

A

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

215
Q

What are clinical features of Smith-Lemli-Opitz syndrome? (7)

A

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)
216
Q

What clinical feature is associated with congenital disorders of glycosylation?

A

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

217
Q

What are examples of peroxisomal disorders? (3)

A
  1. X linked adrenoleukodystrophy
  2. Childhood Addison disease
  3. Zellweger syndrome
218
Q

What are clinical features of Zellweger syndrome?

A

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
219
Q

How can you differentiate between Hurler (MPS I) vs. Hunter (MPS II) syndrome?

A

Hunter syndrome does NOT have cataracts!

220
Q

You have just diagnosed one of your male patients with fragile X. His sister is performing poorly at school. What is your recommendation?

A

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
221
Q

What is the diagnostic test for fragile X syndrome?

A

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

222
Q

What is the diagnostic criteria for cystic fibrosis?

A

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

223
Q

What is the recurrence risk for a unilateral cleft palate for subsequent pregnancies?

  • with 1 affected child?
  • with 2 affected children?
A

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

224
Q

What is the underlying chromosomal abnormality in Klinefelter syndrome?

  • clinical features?
  • treatment?
A

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.

225
Q

What is fetal hydantoin syndrome?
-clinical features?

A

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
226
Q

What is the most likely underlying metabolic disorder in the following bloodwork:

  • hyperammonemia with acidosis
  • hyperammonemia with no acidosis or alkalosis
  • hyperammonemia with hypoglycemia
A

****Hyperammonemia with:

  1. Acidosis = organic acid disorder (methylmalonic aciduria, proprionic aciduria)
  2. Alkalosis = urea cycle defect
  3. Hypoglycemia = fatty acid oxidation defect
227
Q

What are two broad etiologies of hypoketotic hypoglycemia?

A
  1. Hyperinsulinemia
  2. Fatty acid oxidation defect
228
Q

What is the key lab finding in mitochondrial disorders?

A

Lactic acidosis

229
Q

Differentiate between cytogenetic testing, microarray and molecular DNA analysis.

A
  • 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
230
Q

What are the 3 types of Down Syndrome?
-frequency of each?

A
  1. Nondisjunction (47XY): 95% of cases
  2. Robertsonian translocation (46XYt14;21): 4% of cases
    - this has recurrence risk
  3. Mosaicism (46XY): 1%
231
Q

What are 3 tests you need to complete within the first week of Down Syndrome kids?

A
  1. TSH/FT4
  2. ECHO
  3. Hearing test: brainstem auditory evoked potentials response +/- f/u in 3 months depending
232
Q

How often do you measure TSH in Down Syndrome children?
-what test needs to be done prior to discharging a pt home with Down Syndrome

A

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

233
Q

What are surgical issues a Down Syndrome baby may have in the newborn period? (6)

A
  1. Cardiac issues
  2. Duodenal atresia
  3. Hirschsprung’s
  4. Imperforate anus
  5. TEF
  6. Annular pancreas
234
Q

In what condition would you see hemivertebrae?
-what are important imaging tests?

A

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
235
Q

What are clinical features of Waardenberg syndrome?
-inheritance?

A

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
236
Q

A 3 mo old is suspected of having an inborn error of metabolism and has neurological and cardiac involvement. What can you give before a definitive diagnosis is made to prevent further sequelae? (2)

A
  1. Thiamine
  2. Carnitine
237
Q

A patient presents with split uvula. What do you need to check for?

A

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

238
Q

What are examples of diseases that are autosomal dominant?

A
  1. NF-1
  2. Achondroplasia
  3. Myotonic dystrophy
  4. Hereditary angioedema
239
Q

What two conditions cause positive urine reducing substances?

A
  1. Galactosemia
  2. Hereditary fructose intolerance
240
Q

What are clinical features of Gaucher disease?

A

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
241
Q

What is the most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis

242
Q

What are the clinical features of Jeune syndrome?

A

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

243
Q

What are the clinical features of Crouzon syndrome?

A
  1. Craniosynosthosis (usually coronal)
  2. Proptosis
  3. Brachycephaly
  4. Hypertelorism
  5. Strabismus
  6. Beak nose
  7. Midface hypoplasia
  8. High arch palate
244
Q

In patients with retinoblastoma, what is their chance of developing a secondary primary tumor and which one is it?

A

Retinoblastoma = 15-90% develop osteosarcoma!

245
Q

A newborn baby has low sloping shoulders, right hand attached at the elbow with agenesis of the forearm, cardiac abnormalities, missing chest wall musculature and a bifid thumb. What is your most likely diagnosis?

A

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

246
Q

What are 3 conditions that involve expansion of a trinucleotide repeat?

A
  1. Fragile X
  2. Friedreich Ataxia
  3. Myotonic dystrophy
247
Q

You do a quad screen and find decreased estriol, AFP and increased HCG. What is the likely diagnosis?

A

Down Syndrome

248
Q

You do a quad screen and find decreased AFP, estriol, and HCG. What is the likely diagnosis?

A

Trisomy 18

249
Q

Compare and contrast amniocentesis and CVS:

  • timing of test?
  • risk of pregnancy loss?
A

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%)

250
Q

What is the underlying genetic abnormality in Cri Du Chat syndrome?

A

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

Paediatrics Royal College (11 decks)

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