Delayed milestones evaluation

Delayed milestones evaluation

Delayed milestones evaluation

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Definitions & Screening - Spotting the Lag

  • Developmental Delay: Attaining milestones at a slower pace.
  • Global Developmental Delay (GDD): Significant delay (≥2 SD below mean) in ≥2 of the following domains: Gross Motor, Fine Motor, Cognition, Speech/Language, Social/Personal. Applies to children <5 years.
  • Intellectual Disability: Term used for children >5 years if GDD persists.

Screening Tools:

  • TDSC (Trivandrum): 0-3 years
  • DDST (Denver): 0-6 years
  • BDST (Baroda): 0-30 months

Domains of Development: Gross motor, fine motor, language, and social. Always assess all four!

Denver Developmental Screening Test II Chart

Etiology of Delay - The Why Behind

  • Central Nervous System (CNS) Insult
    • Prenatal: Intrauterine infections (TORCH), toxins, IUGR.
    • Perinatal: Hypoxic-ischemic encephalopathy (HIE), birth trauma, prematurity, kernicterus.
    • Postnatal: Meningitis, encephalitis, head injury, seizures.
  • Genetic & Chromosomal Syndromes
    • Down syndrome, Fragile X syndrome, Rett syndrome.
  • Metabolic Disorders
    • Hypothyroidism, Phenylketonuria (PKU), Lysosomal storage disorders.
  • Sensory Deficits
    • Hearing impairment (critical for language).
    • Visual impairment (affects fine motor, social skills).
  • Environmental & Social
    • Psychosocial deprivation, neglect, lack of stimulation.

Cerebral Palsy, often resulting from perinatal HIE or prematurity, is the most common cause of chronic motor disability in children.

Periventricular Leukomalacia (PVL) and its effects

Clinical Evaluation - The Detective Work

  • Three-Pillar Approach:
    • History: Detailed prenatal (maternal infections, drugs), perinatal (birth asphyxia, prematurity), and postnatal (infections, seizures, nutrition) history. Family history of similar delays is crucial.
    • Examination: The cornerstone of diagnosis. Focus on:
      • Anthropometry: Head Circumference (HC) is vital. Plot on a growth chart.
      • Dysmorphism: Look for unusual facial features, limb anomalies.
      • Neurocutaneous markers: Ash-leaf spots, café-au-lait macules.
      • Neurological Exam: Assess tone, power, deep tendon reflexes, and persistence of primitive reflexes.
    • Screening Tools: Use standardized tools like DASII (Developmental Assessment for Indian Infants) or TDSC (Trivandrum Development Screening Chart).

High-Yield Fact: A head circumference falling across two major centiles is a significant red flag, often indicating an underlying static or progressive neurological disorder.

Investigations - The Inside Look

  • Tier 1 (Screening): Hearing & Vision assessment, Thyroid function (T4, TSH).
  • Tier 2 (Specific Pointers):
    • Dysmorphism → Karyotyping, Chromosomal Microarray.
    • Focal deficits / Seizures → Neuroimaging (MRI preferred).
    • Motor delay (esp. proximal weakness) → Creatine Phosphokinase (CPK).

⭐ Always rule out correctable causes first! Impaired hearing/vision and congenital hypothyroidism are common, reversible causes of apparent developmental delay.

  • Global Developmental Delay (GDD) is a significant delay in two or more developmental domains.
  • Initial evaluation must include hearing and vision screening for all cases of developmental delay.
  • Key metabolic investigations include thyroid function tests (T3, T4, TSH) and screening for IEM.
  • MRI brain is the preferred neuroimaging modality to rule out structural CNS defects.
  • Consider karyotyping and chromosomal microarray (CMA) if dysmorphism or congenital anomalies are present.
  • Developmental Quotient (DQ) <70 suggests intellectual disability; formal IQ testing after 5 years.

Practice Questions: Delayed milestones evaluation

Test your understanding with these related questions

A 6-month-old boy is brought to the physician for a well-child examination. The boy was born at term, and the pregnancy was complicated by prolonged labor. There is no family history of any serious illnesses. He can sit upright but needs help to do so and cannot roll over from the prone to the supine position. He can grasp his rattle and can transfer it from one hand to the other. He babbles. He cries if anyone apart from his parents holds him or plays with him. He touches his own reflection in the mirror. Vital signs are within normal limits. He is at the 40th percentile for head circumference, 30th percentile for length, and 40th percentile for weight. Physical examination reveals no abnormalities. Which of the following developmental milestones is delayed in this infant?

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Flashcards: Delayed milestones evaluation

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By what age can an infant stand up?_____

TAP TO REVEAL ANSWER

By what age can an infant stand up?_____

10 months

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