Global Developmental Delay

Causes

• Perinatal

  • TORCH infections such as toxoplasmosis, cytomegalovirus, rubella, and herpes simplex

  • Hypoxic-ischaemic encephalopathy from events like placental abruption, uterine rupture, or prolonged labour

  • Birth trauma associated with macrosomia or improper use of forceps/vacuum extraction

• Congenital/Genetic

  • Fetal alcohol syndrome characterised by microcephaly, smooth philtrum, and small palpebral fissures

  • Inborn errors of metabolism including congenital hypothyroidism leading to delayed milestones and hypotonia

  • Genetic syndromes such as Down syndrome, Fragile X syndrome, and Prader-Willi syndrome

• Neuromuscular Disorders

  • Conditions like Duchenne muscular dystrophy or spinal muscular atrophy causing motor deficits

• Cerebral Palsy

  • Often prenatal in origin, though perinatal or postnatal insults may contribute

• Postnatal

  • Environmental factors including neglect, nutritional deficiencies, and central nervous system infections (e.g. meningitis)

• Other Contributory Factors

  • Exposure to toxins such as lead and socioeconomic deprivation affecting early development

Examination

• Anthropometric Measurements

  • Record weight, height, and BMI using Down syndrome-specific or standard growth charts as appropriate

• Dysmorphic Features

  • Identify features such as microcephaly, flat nasal bridge, epicanthal folds, or single palmar crease

• Sensory Screening

  • Assess vision with cover-uncover tests and hearing by evaluating responses to auditory stimuli

• Developmental Assessment

  • Evaluate gross and fine motor skills, language abilities, social interactions, and adaptive behaviours using age-appropriate tools

• Neurological Examination

  • Check muscle tone (noting hypotonia or “floppy infant” presentation), reflexes, posture, and coordination

• Spine Examination

  • Inspect for structural anomalies such as spina bifida or scoliosis

Investigations

• Genetic Testing

  • Perform chromosomal microarray as first-line when a genetic aetiology is suspected

• Neuroimaging

  • MRI brain for structural abnormalities if indicated by neurological findings

• Metabolic Screening

  • Assess thyroid function and perform relevant metabolic panels

• Sensory Assessments

  • Conduct formal vision and hearing tests to rule out contributory sensory deficits

• Developmental Screening

  • Use standardised developmental assessments to quantify delays

Management

• Multidisciplinary Approach

  • Refer to a developmental paediatrician for comprehensive evaluation and management

  • Include geneticists, neurologists, and allied health professionals as indicated

• Early Intervention

  • Initiate speech, occupational, and physical therapies as early as possible

  • Develop individualised educational and behavioural support plans

• Support Services

  • Facilitate access to funding and community resources (e.g. disability support schemes)

  • Provide caregiver education and psychological support

• Regular Follow-Up

  • Schedule multidisciplinary reviews to monitor progress and adjust interventions accordingly

Complications and Prognosis

• Prognosis depends on the underlying cause and the timeliness of intervention

  • Early, targeted therapy can significantly improve outcomes

  • Some children may catch up to peers, while others may require lifelong support

• Potential long-term complications include persistent learning difficulties and social or adaptive challenges

Notes

• Hypotonia is a frequent finding contributing to motor delays

• Global developmental delay may coexist with other neurodevelopmental disorders necessitating comprehensive evaluation

• Ongoing monitoring is essential to adjust interventions and support developmental progress