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Developmental delay

Specialties > Child health

Background knowledge 🧠

Definition

  • Developmental delay refers to when a child does not reach developmental milestones at the expected times.
  • Affects one or more areas: motor skills, speech and language, cognitive, social, and emotional skills.
  • Distinguished from developmental disability, which is a chronic condition.

Epidemiology

  • Estimated prevalence: 5-10% of children in the UK have some form of developmental delay.
  • Higher incidence in preterm infants and those with low birth weight.
  • Boys more commonly affected than girls.
  • Higher rates in socioeconomically disadvantaged groups.

Aetiology and Pathophysiology

  • Genetic causes: Down syndrome, Fragile X syndrome.
  • Prenatal factors: infections (TORCH), maternal substance use, prematurity.
  • Perinatal factors: birth asphyxia, hypoxic-ischemic encephalopathy.
  • Postnatal factors: infections (e.g., meningitis), head injury, malnutrition.
  • Environmental factors: lack of stimulation, neglect, chronic illness.

Types

  • Global developmental delay: delay in multiple domains.
  • Specific developmental delay: delay in one specific domain (e.g., speech).
  • Isolated developmental delay: delay in a single milestone within a domain.
  • Transient developmental delay: delay that resolves over time.
  • Persistent developmental delay: delay that continues over time and may lead to a diagnosis of a developmental disability.

Clinical Features 🌡️

Symptoms

  • Delayed motor milestones: late sitting, crawling, or walking.
  • Speech delay: limited vocabulary, difficulty forming sentences.
  • Cognitive delay: difficulty with problem-solving, attention, and learning.
  • Social delay: difficulty in interacting with peers, limited social play.
  • Emotional delay: difficulty regulating emotions, frequent tantrums.

Signs

  • Hypotonia or hypertonia in infants.
  • Abnormal reflexes or postures.
  • Poor coordination or clumsiness.
  • Lack of response to social cues.
  • Failure to reach age-appropriate milestones across multiple domains.

Investigations 🧪

Tests

  • Developmental screening tools: Denver Developmental Screening Test, Ages and Stages Questionnaire.
  • Genetic testing: karyotyping, microarray analysis.
  • Neuroimaging: MRI to assess brain structure.
  • Metabolic screening: tests for inborn errors of metabolism.
  • Hearing and vision assessment.
  • Blood tests: thyroid function, lead levels, and iron studies.

Management 🥼

Management

  • Early intervention: speech and language therapy, occupational therapy, physiotherapy.
  • Multidisciplinary approach involving paediatricians, psychologists, and educational specialists.
  • Educational support: individualised education plans (IEPs) in schools.
  • Family support: parenting programs, social support.
  • Medical management of underlying causes (e.g., anticonvulsants for seizures).
  • Regular follow-up to monitor progress and adjust interventions.

Complications

  • Increased risk of learning disabilities.
  • Behavioural problems: ADHD, autism spectrum disorder.
  • Mental health issues: anxiety, depression.
  • Social isolation and low self-esteem.
  • Chronic health issues related to underlying causes (e.g., epilepsy).

Prognosis

  • Depends on the underlying cause and severity.
  • Mild delays may resolve with early intervention.
  • Severe delays may lead to long-term disabilities.
  • Early diagnosis and intervention improve outcomes.
  • Continuous support needed in severe cases.

Key Points

  • Early recognition of developmental delay is crucial for timely intervention.
  • Multidisciplinary approach improves outcomes.
  • Consider underlying medical, genetic, and environmental factors.
  • Ongoing monitoring and support are essential for optimal development.

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Child health