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CPS Statements 2018-2020 > Evaulation Of GDD/ID > Flashcards

Evaulation Of GDD/ID Flashcards

1
Q

What percent of the population have GDD/ID

A

3%

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2
Q

What percent of GDD/ID have an identifiable etiology?

A

40-80%

  • 80% in severe ID
  • 24% mild ID
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3
Q

What are the benefits of diagnosis in GDD/ID

A
  1. timely initiation of treatment and supportive management
  2. Prevention of complications
  3. Improved prognostication
  4. Accurate genetic counselling
  5. Better access to community services
  6. Resolution of diagnostic odyssey and avoidance of unneeded tests
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4
Q

What are the diagnostic criteria for GDD?

A

Significant (<2SD below mean) in >2 developmental domains

  • Gross or fine motor
  • Speech and language
  • Cognition
  • Social/personal
  • ADLs

Age <5yo

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5
Q

What are the diagnostic criteria for ID

A

3 criteria must be meet

  • deficits in intellectual function (reasoning, problem solving, planning, abstract thinking, judgement, academic learning) confirmed on clinical assessment and intelligence testing
  • deficits in adaptive functioning that results in failure to be personally independent and socially responsible - requires ongoing support in community, social participation, independent living
  • onset during the developmental period
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6
Q

What are causes of GDD/ID

A

Prenatal intrinsic: genetic, CNS malformation, metabolic
Prenatal extrinsic: teratogens/toxins, infections
Perinatal: asphyxia, prematurity, neonatal complications
Postnatal: neglect, infections, trauma, toxins

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7
Q

What percent of GDD/ID etiology can be diagnosed based on history and physical?

A
  1. 5-38.6%

- requires 3 generation Fhx, psychosocial history, prenatal and birth history, and timing of major milestones

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8
Q

What important factors are you looking for in a family history?

A 
Recurrent miscarriages
Birth defects
Infant deaths 
GDD/ID
Neurologic conditions 
Genetic conditions 
Ethnic background 
Consanguinity
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9
Q

Which 2 test should be ordered immediately for children with GDD/ID

A

Vision and hearing assessments

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10
Q

What test is considered the single best test for diagnosing GDD/ID? What is it’s diagnostic yield?

A

CMA

8-20%

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11
Q

Why isn’t karyotype a first line investigation?

A

Sensitivity is less than half of CMA

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12
Q

When should a karyotype be ordered?

A

If there’s suspected aneuploidy

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13
Q

What is the most common cause of ID

A

FXS - males 2-6%, females 1-4%

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14
Q

How common is Rett syndrome? What gene is it? When should it be tested?

A

1.5% girls with moderate-severe ID
MECP2 gene
If characteristic symptomatology is present OR if female with moderate-severely affected

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15
Q

What percent of causal mutations can WES identify in severe ID?

A

40%

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16
Q

What are red flags for IEMs

A 
Family history of IEM, DD, unexplained neonatal death or SIDS
Consanguinity
IUGR
FTT
HC or height >2SD or <2SD from mean 
Recurrent vomiting, ataxia, seizures, lethargy, coma 
Hx of severely symptomatic or needing longer to recover with benign illnesses 
Unusual dietary preferences 
Regression 
Behavioural or psychiatric problems
Movement disorder
Facial dysmorphism
Organomegaly
Severe hypotonia 
Congenital nonfacial anomalies 
Sensory deficits, esp. if progressive
Noncongenital progressive spine deformities 
Neuroimaging abnormalities
17
Q

When should metabolic testing be done?

A

If there is clinical suspicion, absence of neonatal screening or if genetic testing and neuroimaging have not been diagnostic

18
Q

What is the diagnostic yield of screening metabolic work up

A

1-5%

19
Q

What is the diagnostic yield of the TIDE work up - 1st tier testing?

A

60%

20
Q

What additional investigations that are not recommended in the tier 1 investigations, but are causes of ID

A

Hypothyroidism - central or acquired causes
Iron deficiency anemia - hx of pica or feeding restrictions
B12 deficiency
Lead poisoning - if risk factors
Congenital infections - only if neurological anomalies, microcephaly, VL or HL

21
Q

How many cases have lesions on MRI? What is the diagnostic yield of MRI?

A

30% have lesions

0.2-2.2% of the time it contribute to the diagnosis

22
Q

When should MRI and EEG be considered?

A
  • MRI: if abN Neuro exam, seizures, macro/microcephaly, (AAN - if CMA/FXS/Rett testing inconclusive)
  • EEG: if clinical suspicion of seizures, speech regression, neurodegenerative disorder

CPS Statements 2018-2020 (16 decks)

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