Pediatrics · Year 3 · from Pediatrics
Case 1: Autism Spectrum Disorder
Patient Demographics
- Age: 2-year-old male
- Sex: Male
Chief Complaint
"He doesn't talk like other kids his age, and he's in his own world."
History of Present Illness
A 2-year-old boy is brought to his pediatrician by his parents who are concerned about his development. He has only 3-4 words that he uses inconsistently and often just repeats words he hears (echolalia) rather than using them meaningfully. He does not point to objects to show his parents things he finds interesting. He rarely makes eye contact, even with his parents, and does not seem interested in other children at the park. He lines up his toy cars in perfect rows for extended periods and becomes very upset if anyone moves them. He flaps his hands when excited and walks on his toes frequently. He has an older sister who is developing normally. He reached motor milestones on time.
Developmental History
- Gross motor: Sat at 6 months, walked at 12 months (on time)
- Fine motor: Appropriate for age
- Language: First words around 12 months, but vocabulary has not expanded; no two-word phrases
- Social: Never brought toys to show parents, no joint attention, does not respond to name consistently
M-CHAT-R/F Screening (completed at 18 months)
- Score: 8/20 items positive (high risk)
- Follow-up interview confirmed concerns in multiple domains
Physical Examination
- General: Active toddler, appears healthy, minimal eye contact with examiner
- Growth: Height 50th percentile, weight 55th percentile, head circumference 75th percentile
- Neurologic: Normal tone, strength, reflexes
- Behavior observed:
- Does not respond when name is called
- Lines up blocks repeatedly
- Flaps hands when mother claps
- Does not point or follow pointing
- No pretend play observed
- Becomes distressed when block tower is knocked over
Diagnosis
Autism spectrum disorder (ASD)
Clinical Reasoning
This child meets DSM-5 criteria for ASD with deficits in BOTH required domains:
Social communication deficits:
- Lack of joint attention (not pointing to share interest)
- Reduced eye contact
- Absent social referencing
- Delayed and abnormal language development
- Does not respond to name
Restricted/repetitive behaviors (at least 2):
- Stereotyped motor movements (hand flapping, toe walking)
- Insistence on sameness (distress when toys moved)
- Highly restricted interests (lining up cars)
- Possible sensory interests (not fully assessed)
Red flags present before age 2 include: no pointing by 12 months, no babbling or gesturing, loss of social engagement, and failure to respond to name. Early identification allows for early intensive intervention, which improves outcomes.
Management
- Referral for comprehensive evaluation: Developmental pediatrician or child psychologist for formal diagnosis
- Early intervention referral (Part C): Immediate referral regardless of final diagnosis; do not wait for evaluation completion
- Applied Behavior Analysis (ABA) therapy: Evidence-based intensive behavioral intervention (25+ hours/week ideal)
- Speech-language therapy: Target functional communication; consider augmentative communication
- Occupational therapy: Address sensory processing and fine motor skills
- Audiology evaluation: Rule out hearing loss as contributing factor
- Genetic testing: Consider chromosomal microarray and fragile X testing
- Family support: Connect with autism support organizations and parent training
Clinical Image
Image Description: Illustration depicting the concept of joint attention (or lack thereof) in autism spectrum disorder, showing a child failing to follow a parent's pointing or share focus on objects of interest.
Source: Wikimedia Commons - Autism Awareness URL: https://commons.wikimedia.org/wiki/File:Autism_symptoms.svg License: CC BY-SA 4.0