A 2-year-old child has no meaningful language, does not follow two-step commands, engages in repetitive hand-flapping, makes no eye contact, and does not respond to his name. Parents report normal development until 18 months followed by loss of previously acquired words. Which of the following best identifies the 'regression' pattern in this case and its significance?
- A Regression after 18 months of age is always indicative of a progressive neurodegenerative disorder
- B Regression of language and social skills between 18-24 months is a recognized pattern in autism spectrum disorder (ASD) called regressive autism, seen in ~30% of ASD children ✓
- C Language regression after 18 months mandates immediate genetic testing for Rett syndrome only
- D Regression at this age always necessitates brain MRI to rule out CNS tumor
Explanation
Regressive autism (loss of previously acquired language and social skills typically between 15-24 months) is seen in approximately 25-35% of children with ASD and represents a recognized subtype rather than always indicating a neurodegenerative process. The regression typically affects language and social communication, while basic motor skills remain intact. This is distinct from true neurodegenerative diseases (e.g., neuronal ceroid lipofuscinosis, Rett syndrome) where motor regression also occurs and is typically progressive. In Rett syndrome (MECP2 mutation), which exclusively affects females, there is regression of hand use and purposeful skills with characteristic hand-wringing stereotypies, accompanied by autonomic dysfunction. All children with regression warrant thorough evaluation, including EEG to rule out Landau-Kleffner syndrome.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.