Susan Posky

( Identifying Developmental Delay )

CARD 313

(Dr Rahaf Waggass)

(Assistant professor)

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Relevant weekly objectives
• Explain the range of normal development in children, together with major
deviations from the normal pattern that cause the greatest concern.

Lecture Objectives:
By the end of this session, students will be able to:
• Identify the normal milestones from birth till adolescence using a growth chart
• Describe the causes and risk factors for developmental abnormalities
• Briefly describe the implications of developmental abnormalities
• List the specialties available locally for managing developmental abnormalities

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• Normal milestone.
• Causes and risk factors for developmental
abnormalities
• Investigations of developmental abnormalities
• Management principles of developmental
abnormalities

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 What is a developmental milestone?
• A developmental milestone is an ability that is
achieved by most children by a certain age.

• Developmental milestones can involve physical,

social, emotional, cognitive and communication
skills.

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 Causes of developmental abnormalities
• Genetic or syndromic (e.g Down syndrome)
• Metabolic (e.g phenylketonuria)
• Endocrine (e.g congenital hypothyroidism)
• Traumatic
• Environmental causes (e.g child neglect)
• Cerebral malformations
• Infection (e.g neonatal meningitis)
• Toxins (e.g maternal alcohol use in pregnancy)
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• History and physical examination may be sufficient to suggest
underlying aetiology.
• Investigations for confirmation.

• Some important predictors:- abnormal prenatal/ perinatal hx

- microcephaly
- dysmorphology
- abnormal neurology esp. focal/
lateralising signs

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 History
• Adverse prenatal, peri-natal or post natal events
• Pregnancy losses, early neonatal or infantile deaths
• Consanguinity
• 3 generation family pedigree
• Maternal prescription drugs, alcohol,

• illicit drug use

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 Physical examination red flags

• Motor Impairment/ localising signs

• Microcephaly/Macrocephaly
• Syndromic/ Dysmorphic appearance
• Subtle dysmorphology/ ‘different appearance’
• Neurocutaneous manifestations
• Cardiac anomaly and developmental delay
• Coarse facial features
• Hepatosplenomegaly
• Eyes: Cataracts, visual impairment

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 Modalities for diagnosis

• Detailed History and examination

• Neuro-imaging: CT Scan /MRI

• Genetic Evaluation: Clinical
Cytogenetic testing
Molecular Genetics
Metabolic Screening
• EEG
• Vision and Hearing assesment

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 Neuroimaging

• Probably most widely available.

• Most useful in the context of global developmental delay with
motor impairment i.e. CP, Cerebral Dysgenesis
• Microcephaly &/lateralising signs increase yield
• If available MRI is preferential.
• CT Scan indications: suspected perinatal infection :
calcification
abnormality of skull bones
• Is probably justifiable as the 1st Investigation in GDD in the
absence of Dysmorphology &/ a family history & with motor
delay.
• The finding of a brain anomaly may not be the final diagnosis 11
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 Indications of karyotyping

• Dysmorphic features /Syndromic appearance to confirm a

suspected syndrome , most commonly Downs.
• Unexplained Global Developmental delay .
• Unexplained Intellectual Disability
• Family History on 3 generation family pedigree of
developmental delay, ID, psychiatric diagnoses

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 Metabolic tests

• TFTs, Capilllary blood gas, Serum lactate & ammonia,

serum amino, and urine organic acids.

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 EEG
• Evidence supports EEG in the presence of a history or
examination features suggesting Epilepsy or seizures, in the
context of global developmental delay.
• Have a high index of suspicion in structural anomalies of the
brain, history of asphyxia, CP or other cerebral insults.
• Be aware of atypical seizure presentations.

• Undiagnosed persistant seizures worsens the neurological

outcome.

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 Vision and hearing

• Seen in the context of Universal Newborn screening of vision

(clinical, red reflex, surveillance) and hearing (OAE’s,
behavioural audiometry)
• Children with Global developmental delay are at much higher
risk of sensory impairments.
• Impact on management and rehab
• Are often correctable, and may improve outcome.

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 Management principles

• Target the underlying disease or cause.

• Education and training.

• Social support.

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 Facilities for developmental abnormalities in
Saudi Arabia

• www.dca.org.sa
• www.kscdr.org.sa
• www.dsca.org.sa

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 References

• Nelson textbook of Pediatrics 17th edition

• Current pediatric diagnosis and treatment 15th
edition
• www.emedicine.com

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