Smiles in the Shadows
Artist: Raymond S.
Artwork description:
This piece portrays children diagnosed with Angelman Syndrome (AS), a rare neurogenetic disorder. They are known for frequent laughter and a joyful demeanor that starkly contrasts the invisible pain they endure — repeated seizures, developmental delays, and severe language impairment. The artist draws inspiration from this paradox: the light of their smiles illuminating the shadow of their suffering.


Disease Introduction: Angelman Syndrome (AS)
Type: Neurological / Neurodevelopmental disorder
Affected System: Central nervous system (CNS)
Symptoms:
Severe developmental delay and intellectual disability. Minimal or absent speech. Frequent laughter and a happy disposition. Seizures (tonic–clonic, myoclonic, or atypical absence). Unsteady gait and tremors (ataxia). Sleep disturbances, hyperactivity, microcephaly. Characteristic facial features (wide mouth, prominent chin, light hair/skin).
Cause:
Loss of function of the UBE3A gene (ubiquitin protein ligase E3A) in neurons, usually from a maternal deletion or mutation, disrupting protein degradation and neuronal communication.
Treatment:
There is no cure yet, but treatments can reduce symptoms. Antiepileptic drugs and dietary therapies (e.g. ketogenic diet). Physical and occupational therapy to improve coordination. Behavioral and communication therapy (AAC devices). Sleep and hyperactivity management through medication and structured routines. Gene-based research (antisense and gene therapy) currently underway.