EpistemisGlobal delay in psychomotor development
Specialty: Pediatrics.
Why it occurs
- Static encephalopathy or infantile cerebral palsy (non-progressive lesion in a developing brain, secondary to pre, peri or postnatal factors)
- Genetic and chromosomal disorders (Down syndrome, Fragile X syndrome, microdeletions or genomic duplications)
- Inborn errors of metabolism (phenylketonuria, mucopolysaccharidosis, urea cycle disorders or mitochondrial diseases that cause progressive brain damage)
- Congenital infections of the TORCH group (cytomegalovirus, toxoplasmosis, rubella, herpes or congenital syphilis with involvement of the brain parenchyma)
- Severe environmental or psychosocial deprivation (absence of cognitive and affective stimuli, neglect or severe abuse in critical stages of brain plasticity)
Initial workup
Evaluation of neurodevelopment using validated scales (Denver, Haizea-Llevant or Bayley Scale). General laboratory analysis: blood count, liver and kidney profile, ionogram, blood gases, lactate, pyruvate, ammonium, amino acids in plasma and organic acids in urine (ruling out metabolic diseases). Brain MRI (to evaluate myelination abnormalities, structural malformations or ischemic lesions). Molecular genetic study: Karyotype, genomic hybridization analysis (Array-CGH) or molecular study of the FMR1 (X-fragile) gene. Hearing screening and complete ophthalmological examination (to rule out primary sensory deficits).
red flags
Documented loss or regression of any previously acquired motor, linguistic, social or cognitive skills at any age; severe and progressive axial/appendicular hypotonia or hypertonia with asymmetric or pathological tendon reflexes (Babinski persistent beyond 2 years); Progressive or new-onset microcephaly or macrocephaly; absence of social smiling at 3 months, lack of gaze fixation or visual tracking at 2 months; absence of babbling at 12 months or simple meaningful words at 18 months; absolute disinterest in the environment, avoidance of eye contact or extremely repetitive and stereotyped behavior patterns.
Standard management
- There is no curative pharmacological treatment for global developmental delay; The fundamental pillar is multidisciplinary early care — physiotherapy, speech therapy, occupational therapy). Antiepileptic drugs such as Levetiracetam or Sodium Valproate (indicated only if there are epileptic seizures confirmed by EEG; levetiracetam doses of 10 to 60 mg/kg/day IV or oral
- Baclofen or Botulinum toxin type A — for the symptomatic management of muscle spasticity focused on associated cerebral palsy, under specialized indication
- Vitamin supplements or specific cofactors (such as biotin, thiamine or pyridoxine in specific metabolic errors that respond to vitamins).
Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.
- Area
- Pediatrics
- Listed causes
- 5
- Treatment options
- 3