Developmental delay Flashcards
At what gestational age is a baby considered preterm?
Born at less than 37 weeks.
Up to what age is corrected age used for preterm infants?
Up to 2 years.
What are the five key domains of development?
Gross motor, fine motor, cognitive, social & emotional, speech & language.
How is Global Developmental Delay (GDD) defined?
Delay in ≥2 developmental domains.
What are common causes of GDD in the prenatal period?
Genetic disorders (e.g., Down syndrome), cerebral dysgenesis, vascular issues, drugs, toxins, maternal infections.
What are common perinatal causes of GDD?
Prematurity, intraventricular hemorrhage, perinatal asphyxia, metabolic conditions (e.g., bilirubin toxicity).
What are postnatal causes of GDD?
Infections (meningitis), metabolic (hypernatremia), anoxia, trauma (TBI), vascular (stroke), maltreatment, malnutrition, maternal mental health disorders.
What are central causes of weakness?
Syndromic conditions, infections, metabolic disorders, strokes, demyelination, tumors, genetic disorders, injuries.
What are peripheral causes of weakness?
Anterior horn cell diseases, peripheral neuropathy, neuromuscular junction (NMJ) disorders, and muscle diseases.
Name two anterior horn cell disorders.
Spinal muscular atrophy (SMA) and acute poliomyelitis-like syndromes.
How do anterior horn cell disorders present?
No sensory involvement, absent reflexes, normal bladder/bowel function.
What are common causes of peripheral neuropathy?
Guillain-Barré Syndrome (GBS), hereditary sensorimotor neuropathy (HSMN), infections (Lyme/HIV), toxins (heavy metals), critical illness neuropathy.
How does peripheral neuropathy present?
Ascending/descending weakness, sensory and autonomic involvement, pain, absent reflexes.
What are examples of muscle disorders?
Rhabdomyolysis, channelopathy, myopathy, dystrophy.
How do muscle disorders present?
Weakness, preserved or reduced reflexes, muscle pain (rhabdomyolysis only).
What are key symptoms of Prader-Willi Syndrome?
Neonatal hypotonia, hyperphagia, intellectual disability (ID), short stature, hypogonadism, behavioral issues.
What are the key symptoms of Rett Syndrome?
Normal early development → regression, hand stereotypies, gait abnormalities, breathing issues, severe ID, autistic-like features.
What is Worster-Drought Syndrome?
A congenital bilateral perisylvian syndrome.
What are key symptoms of Worster-Drought Syndrome?
Oromotor and bulbar weakness, facial/tongue weakness, drooling, feeding difficulties, speech delays, cognitive impairment, spasticity.
What is the genetic cause of COL4A1-related stroke?
A: Mutations affecting collagen in blood vessel walls.
What are key features of COL4A1 stroke syndrome?
Fragile blood vessels, increased risk of intracerebral hemorrhage (ICH), ischemic stroke, cerebral small vessel disease.
What gene is implicated in Dravet Syndrome?
SCN1A.
What are key features of Dravet Syndrome?
Severe, treatment-resistant epilepsy, prolonged febrile & afebrile seizures, cognitive impairment, gait issues, high risk of SUDEP.
What are key features of Early-Onset Developmental and Epileptic Encephalopathy (DEE)?
Drug-resistant seizures, developmental delay/regression, severe cognitive, motor, and behavioral disabilities, high SUDEP risk.
