Completeness of ASD Diagnostic Report
A complete ASD diagnostic report for this 8-year-old female patient must document both core symptom domains (social communication/interaction deficits AND restricted/repetitive behaviors), developmental history with symptom onset timing, cognitive/adaptive functioning assessment, screening for common co-occurring conditions, and etiologic evaluation including genetic testing considerations. 1
Essential Core Diagnostic Components
The report must confirm both required symptom domains per DSM-5 criteria 2:
- Social communication/interaction deficits including impaired nonverbal behaviors (eye contact, facial expressions, gestures), difficulty developing peer relationships, lack of social-emotional reciprocity, and deficits in understanding/using communication for social purposes 1
- Restricted and repetitive behaviors including stereotyped motor movements, insistence on sameness, highly restricted interests of abnormal intensity, and hyper- or hypo-reactivity to sensory input 1
The diagnosis requires high interrater reliability using standardized measures 2. The gold standard involves semistructured direct observation and caregiver interview using validated instruments like the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2, sensitivity 91%, specificity 76%) and Autism Diagnostic Interview (ADI-R, sensitivity 80%, specificity 72%) 3.
Developmental History Requirements
The report must document 2:
- Symptom onset timing - symptoms must appear in early development, typically within the first 2 years of life, though may be masked until social demands exceed capacities 1
- Early warning signs assessed retrospectively, including lack of pointing for interest at 20-42 months, absence of conventional gestures, deficits in directing attention and attention to voice at 24 months 1
- Developmental trajectory - whether skills were never acquired versus regression after initial typical development 2
Cognitive and Functional Assessment
A complete report requires comprehensive evaluation of 2, 1:
- Intellectual functioning - approximately 30% of ASD cases have co-occurring intellectual disability (50% severe-profound, 35% mild-moderate, 15-20% normal range IQ) 1
- Verbal versus nonverbal skills - verbal skills typically more impaired than nonverbal in classic presentations 1
- Specific cognitive domains including working memory, processing speed, sustained attention, receptive and expressive language, and pragmatic language skills for older/cognitively able children 2
- Adaptive functioning across daily living skills, socialization, and communication domains 2
- Fine and gross motor skills assessment 2
Cognitive level is the primary driver of behavioral presentation variability, more so than core social deficits themselves 1.
Co-occurring Conditions Screening
Critical pitfall to avoid: The report must screen for common comorbidities, as approximately 90% of individuals with ASD have at least one additional medical or mental health condition 2, 1. Required screening includes:
- ADHD (affects >50% of ASD cases) 2, 1
- Anxiety and depression (anxiety 11% vs 5% general population; depression 20% vs 7%) 3
- Sleep difficulties (affects >50%, with 13% vs 5% in general population) 1, 3
- Epilepsy (affects 20-33%, particularly with co-occurring intellectual disability at 21% vs 0.8% general population) 2, 1, 3
- Gastrointestinal disorders (affects approximately 50%) 2
- Irritability/challenging behavior (affects approximately 20%, with at least 25% having severe behavioral disturbance) 2
- Feeding issues (severe eating/feeding issues affect >33%) 2
At least 25% have severe behavioral disturbance requiring specific assessment 2.
Etiologic Evaluation
The genetics evaluation is essential for defining etiology, providing counseling, and contributing to case management 2. A complete report should address:
- Genetic testing considerations - chromosomal microarray analysis and fragile X testing are first-tier genetic tests with established diagnostic yields 2
- Dysmorphology examination - assessment for physical features suggesting syndromic forms (e.g., macrocephaly in PTEN-associated ASD) 2
- Family history - recurrence risk is 7% if first affected child is female, 4% if male; 33-50% if multiple children already affected 2
- Metabolic screening when clinically indicated by history or examination 2
Recognizing expanded phenotypes of well-described syndromic and metabolic conditions that encompass ASD is essential 2.
Differential Diagnosis Documentation
The report must distinguish ASD from similar conditions 1:
- Versus OCD: ASD presents early (first 2 years) with ego-syntonic repetitive behaviors and prominent social/communicative impairments, whereas OCD typically emerges in later childhood/adolescence with ego-dystonic behaviors 1
- Versus other developmental delays: Specificity of social communication deficits and restricted/repetitive behavior patterns 2
Functional Impact and Prognosis
The report should document 2:
- Quality of life and social function - significant decreases are common across all cognitive levels 2
- Communication needs - whether nonverbal/minimally verbal requiring augmentative/alternative communication device evaluation 2
- Behavioral concerns - presence of challenging behaviors including pica, elopement, aggression, self-injury requiring functional behavioral assessment 2
- Temporal stability - ASD diagnosis has high temporal stability, with only a small percentage no longer meeting criteria in later childhood/adolescence/adulthood 2
Treatment Planning Recommendations
A complete report guides intervention by documenting 2:
- Behavioral intervention needs - early intensive behavioral interventions improve cognitive ability, language, and adaptive skills 4
- Therapy requirements - speech/language therapy for communication challenges, occupational/physical therapy for motor difficulties 2
- Educational accommodations - visual schedules, planners, timers for organizational weaknesses; speaking slowly with repetition for working memory/processing speed deficits 2
- Pharmacotherapy indications - only for co-occurring psychiatric conditions (emotion dysregulation, ADHD, anxiety, aggression), not core ASD symptoms 3, 5
Critical pitfall: Clinicians must not delay evaluation with "wait and see" approaches, as early identification enables timely intervention with significantly improved developmental outcomes 1.