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Paediatric Biochemistry > Developmental Delay > Flashcards

Developmental Delay Flashcards

1
Q

What is Developmental Delay?

A

Considerable delay in the physical or mental development of a child compared with their peers

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2
Q

What is Global developmental delay?

A

Delay in development in all areas

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3
Q

What is Developmental regression?

A

Loss of an acquired function or failure to progress after a period of relatively normal development

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4
Q

What is Failure to thrive (faltering weight)?

A

Insufficient weight gain, or inappropriate weight loss

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5
Q

What is early developmental impairment?

A
  • Developmental skills fall ≥ 2 SD below the population mean in ≥ 2 developmental domains.
  • Shown in children under 5 years.
  • Occurs in approx 1 – 3 % of the population
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6
Q

What are factors of Early Developmental Impairment?

A
  • Gross/fine motor skills
  • Speech/language
  • Cognition
  • Social/personal
  • Activities of daily living
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7
Q

Why do we investigate developmental delay?

A
  • Explanation to parents why child is ‘different’
  • Prognostic information
  • Set realistic goals
  • Access to educational support
  • Other support for family
  • End the ‘diagnostic odyssey’
  • Treatment
  • Management of secondary disabilities
  • Future pregnancies and the wider family
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8
Q

What is involved in the assessment of a child with developmental delay?

A
  • History
  • Developmental assessment
  • Physical examination
  • Differential diagnosis
  • Laboratory investigations
  • Routine biochemistry
  • Specialist metabolic tests
  • Genetics
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9
Q

What is involved in the history in the assessment of a child with developmetal delay?

A

Most important investigation. Keep a broad view and open mind

  • Family history (parents, siblings, grandparents)
    • Consanguinity
    • Illnesses, early death
    • Any attending a special school
  • Pregnancy and delivery. If child has problems from birth, are they:
    • genetic
    • in utero insult
    • perinatal events?
  • Family environment
  • Resources accessible to family
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10
Q

What is involved in the physical examination of a child with developmental delay?

A
  • Height, weight, head circumference using percentile charts
  • Birth marks
  • Dysmorphic features
  • Neurological assessment
  • Eyes
  • Hearing
  • Speech
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11
Q

What are features that point to an inherited metabolic disrder causing developmental delay?

A
  • Parental consanguinity
  • Family history of unexplained illness, infant death or late miscarriage
  • Symptom-free interval
  • Slowing down of skill acquisition
  • Loss of skills
  • Coarse facial features – metabolic disorder
  • Organomegally
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12
Q

What are considerations made when planning tests for developmental delays?

A
  • Cost of test
  • Diagnostic yield
  • Diagnosis of treatable disorders
  • Review the evidence for the test
  • Protocol based on clinical findings – differs for each child
  • Turnaround time
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13
Q

What are features of CGH microarray in laboratory investigations?

A
  • It is the laboratory test with greatest diagnostic yield in investigation of developmental delay
  • Done in Median age 4 years
  • Cytogenetic technique which identifies copy number variations. It identifies large deletions or duplications of DNA such as changes of 5 – 10 megabases.
  • The genomic DNA from two individuals compared
  • Analysed sample in sex-matched pairs
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14
Q

What are indications for CGH microaaray?

A
  • Developmental delay
  • Neurodisability
  • Congenital abnormalities
  • Dysmorphism
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15
Q

What are symptoms of Fragile X syndrome?

A
  • Delayed development, mild intellectual disability, speech and language delay
  • Increased CGG triplet repeats on FMR1 gene on X chromosome (> 200, normal 5 – 40)
  • May be family history - 1 in 4000 M, 1 in 8000 F
  • Specific genetic test is CGH Microarray
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16
Q

Which markers are tested for in the routine biochemistry for the assessment of developmental delay?

A
  • Creatine Kinase
  • Calcium, phosphate
  • Thyroid Function
  • Urea, creatinine, electrolytes
  • Calcium, phosphate
  • FBC
  • Uric acid
17
Q

Duchenne Muscular Dystrophy: Presentation, Biochemical Test, Treatment

A
  • Test: Creatine Kinase elevated in DMD. Included in 1st line investigation of Early Developmental Impairment in boys.
  • Presentation: May present with delayed development
  • Treatment: Steroid, New drugs or Clinical trials
18
Q

What can causes low Creatinine?

A
  • Decreased muscle mass (DMD)
  • Analytical interferences (jaffe method) from N-Acetyl cysteine, bilirubin, Lipemia. This is from the enzymatic assay
19
Q

What are features of thyroid function testing in assessing a child with developmental delay?

A
  • Evidence to include in EDI protocol
  • Cheap test
  • Hypothyroidism is treatable. Presentation may be variable
  • Adverse consequences if missed
  • Associated with some chromosomal abnormalities
20
Q

What affects changes in Calcium and phosphate testing?

A
  • Some chromosomal disorders
  • Pseudohypoparathyroidism
21
Q

What are the features of testing FBC in early developmental delay?

A

Fe deficiency may be associated with Developmental delay and is treatable

22
Q

What can uric acid screening be used for?

A

Screen for purine disorders

23
Q

What are clinical features of GAMT deficiency?

A
  • Intellectual disability
  • Speech and language delay
  • Behavioural problems
  • Epilepsy
24
Q

How is GAMT deficiency treated?

A

Aim to restore cerebral creatine and suppress guanidinoacetate. Give:

  • Creatine
  • Benzoate (removes glycine)
  • Ornithine
25
Q

What are features of homocysteinuria?

A
  • Cystathionine β-synthase deficiency
  • Causes Global developmental delay
26
Q

What are investigations results for Homocyteinuria?

A
  • High Homocysteine
    • Binds to other amino acids or to itself. The bond needs to be reduced before the measurement
  • High Methionine
  • Low Cystine
27
Q

What is the treatment for Homocysteinuria?

A
  • Low protein diet
  • Vitamin B6
  • Betaine – converts homocysteine back to methionine
28
Q

What are features of Biotinidase deficiency?

A
  • Biotin required for carboxylation of Propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase & acetyl-CoA carboxylase
  • Normal development resumed on daily biotin
29
Q

What are symptoms of Biotinidase deficiency?

A
  • Loss of Speech
  • Difficulty walking
  • Developmental Regression
  • Seizures
30
Q

What are challenges for whole exome sequencing?

A
  • Data processing
  • Missing non-coding regions
  • Variants of uncertain
31
Q

What are investigation guidelines for developmental delay?

A
  • Evidence for each test
  • Cost effectiveness of the test
  • Stepwise protocols
  • First Line Test
  • Second Line test based on clinical judgement
  • Storage of samples for sequential test
32
Q

What is the test for Fragile X syndrome?

A

Specific genetic test is CGH Microarray

  • Increased CGG triplet repeats on FMR1 gene on X chromosome (> 200, normal 5 – 40)
  • May be family history - 1 in 4000 M, 1 in 8000 F

Paediatric Biochemistry (31 decks)

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