Psychiatry · Year 3 · from Psychiatry
Case 2: Autism Spectrum Disorder
Patient Demographics
- Age: 4 years old
- Sex: Male
- Grade: Preschool
Chief Complaint
Per parents: "He doesn't talk like other kids his age, and he doesn't seem interested in playing with other children."
History of Present Illness
The patient is a 4-year-old boy brought by his parents after his preschool teacher recommended evaluation. The teacher noted he rarely interacts with peers, preferring to play alone and becoming very distressed when other children try to join his activities. His language is limited compared to classmates, and he often repeats phrases from TV shows rather than engaging in conversation.
Parents report concerns began around 18 months when he was not pointing to objects or responding to his name. His first words emerged at age 2, later than his older sibling. He currently speaks in short phrases but rarely initiates conversation. When he wants something, he often leads his parents by the hand to the desired object rather than asking verbally. He makes limited eye contact. He does not show objects to share interest (joint attention).
He has intense, focused interests in trains and ceiling fans. He can identify and name over 100 trains but has little interest in other toys. He lines up his trains in specific orders and becomes very upset if the order is changed. He flaps his hands when excited. He insists on sameness in daily routines - taking the same route to school, eating from the same plate. Transitions between activities are very difficult and often trigger tantrums.
He is sensitive to loud sounds (covers ears, becomes distressed) and has restricted food preferences, eating only about 5 foods (all similar textures).
Developmental History
- Sat independently: 7 months
- Walked: 13 months
- First words: 24 months (delayed)
- Phrases: 36 months (delayed)
- Regression: None
- Birth: Full-term, no complications
Observation During Evaluation
Social-Emotional Reciprocity:
- Made eye contact briefly when name called but did not sustain
- Did not engage examiner in reciprocal play
- Limited range of facial expressions
- Did not share enjoyment when playing with preferred toy (train)
Nonverbal Communication:
- Minimal use of gestures
- Did not point to show interest
- Limited integration of eye contact with speech
Developing Relationships:
- No interest in examiner or other children in waiting room
- Parallel play only
Restricted, Repetitive Behaviors:
- Lined up trains by size and color repeatedly
- Distressed when examiner moved a train
- Hand flapping observed when excited
- Repeated phrases from TV show multiple times
Sensory Sensitivities:
- Covered ears when phone rang
- Mother reports strong texture preferences for food
Standardized Assessment
Autism Diagnostic Observation Schedule, Second Edition (ADOS-2):
- Module 1 (pre-verbal to phrase speech)
- Social Affect score: 14 (cutoff for autism: 11)
- Restricted and Repetitive Behaviors: 5 (cutoff: 3)
- Total: 19 (cutoff for autism: 16)
- Classification: Autism
Vineland Adaptive Behavior Scales:
- Communication: 68 (moderately low)
- Daily Living Skills: 75 (moderately low)
- Socialization: 62 (low)
- Motor: 85 (adequate)
- Adaptive Behavior Composite: 70
Diagnosis
Autism Spectrum Disorder, Requiring Substantial Support (Level 2) (F84.0)
DSM-5 Criteria Met:
A. Persistent deficits in social communication/interaction (all 3 required):
- Deficits in social-emotional reciprocity: Limited back-and-forth conversation, reduced sharing of interests/emotions, failure to initiate social interaction
- Deficits in nonverbal communicative behaviors: Poor integration of eye contact, reduced gestures, limited facial expressions
- Deficits in developing/maintaining relationships: No interest in peers, no imaginative play with others
B. Restricted, repetitive patterns (2+ required, 4 present):
- Stereotyped motor movements: Hand flapping
- Insistence on sameness: Rigid routines, same route, distress with changes
- Highly restricted, fixated interests: Intense focus on trains
- Sensory sensitivities: Auditory hypersensitivity, food texture aversions
C. Symptoms present in early developmental period: YES D. Symptoms cause significant impairment: YES E. Not better explained by intellectual disability: Intellectual testing needed but social deficits exceed expected for cognitive level
Severity Level: Level 2 - Requiring substantial support (marked deficits in social communication, restricted/repetitive behaviors obvious to casual observer, distress with change)
Specifiers:
- Without accompanying intellectual impairment: To be determined by cognitive testing
- With accompanying language impairment: YES (significantly below age level)
Treatment Plan
Early Intervention - Applied Behavior Analysis (ABA):
- 20-25 hours per week of intensive behavioral intervention
- Focus on communication, social skills, and reducing challenging behaviors
- Evidence-based, most effective intervention for young children with ASD
Speech and Language Therapy:
- 2-3 sessions per week
- Focus on functional communication
- Consider augmentative and alternative communication (AAC) if needed
- Pragmatic language goals
Occupational Therapy:
- Address sensory processing differences
- Work on daily living skills
- Food/feeding therapy for restricted diet
Educational Services:
- Individualized Education Program (IEP) through school district
- Specialized instruction in structured setting
- Visual supports and schedules
Parent Education and Support:
- Training in ABA principles for use at home
- Understanding of autism and developmental expectations
- Connection with Autism Society and parent support groups
- Respite care resources
Additional Evaluations:
- Formal cognitive testing when able to cooperate
- Audiology evaluation (to rule out hearing as contributing factor)
- Genetics consultation (chromosomal microarray, Fragile X testing)
Follow-up:
- Developmental pediatrics in 3 months
- Ongoing monitoring of progress with therapy
- Regular team meetings to coordinate care