What should be included in a comprehensive autism assessment documentation format?

Comprehensive Autism Assessment Documentation Format

A comprehensive autism assessment documentation must include diagnostic confirmation using standardized tools, complete medical workup with audiometry and genetic testing, multidisciplinary evaluations across developmental domains, and specification of severity level with co-occurring conditions.

Pre-Evaluation Requirements

Before initiating the formal assessment, confirm the diagnosis of ASD by a trained professional using objective criteria and standardized tools. 1

• Document the specific screening tools used (e.g., M-CHAT, CHAT, or CAST) with scores and interpretation 1
• Include the age at which screening was performed and any parental concerns that prompted evaluation 1
• Verify completion of newborn screening results 1
• Document formal audiogram results to rule out hearing loss that could mimic ASD symptoms 1

Core Diagnostic Assessment Components

Clinical Observation and Standardized Measures

The assessment must include both standardized diagnostic instruments and direct clinical observation, with the ADOS-2 (sensitivity 91%, specificity 76%) and ADI-R (sensitivity 80%, specificity 72%) serving as gold standard measures. 2, 3

• Document ADOS-2 administration with module used, comparison scores, and classification 2
• Include ADI-R structured parent interview results across all domains 1
• Record direct observations of social attention behaviors: eye contact frequency, social smiling, nonverbal communication attempts, and joint attention 1
• Document repetitive behaviors and restricted interests with specific examples and frequency 1

Developmental History

Obtain detailed developmental trajectory information, as atypical developmental patterns (particularly declining standard scores during the second year) serve as important risk indicators. 1

• Record early developmental milestones in social-emotional, motor, language, and problem-solving domains 1
• Document any regression or skill loss, including timing and specific skills affected 1
• Include standardized cognitive assessment scores (e.g., Bayley Scales, Mullen Scales) at multiple time points if available 1
• Note trajectory patterns: stable delays versus declining scores over time 1

Medical and Genetic Evaluation Documentation

Tiered Genetic Testing Approach

Document a systematic tiered genetic evaluation, as this identifies an underlying etiology in 30-40% of individuals with ASD. 1, 2

First Tier (perform on all patients):

• Physical examination findings with attention to dysmorphic features 1
• Woods lamp examination results for tuberous sclerosis signs 1
• High-resolution chromosomal analysis (karyotype) results - 3% diagnostic yield 1, 2
• Fragile X DNA testing results - 1-5% diagnostic yield 1, 2
• Chromosomal microarray (CMA) results - 10% diagnostic yield 1, 2

Second Tier (based on clinical indicators):

• MECP2 gene testing in females - 4% yield 1, 2
• PTEN gene testing if head circumference >2.5 SD above mean - 5% yield 1, 2
• Fibroblast karyotype if clonal pigmentary abnormalities present 1

Third Tier (as clinically indicated):

• Brain MRI findings 1
• Metabolic screening results if clinical indicators present (urine mucopolysaccharides, organic acids, serum lactate, amino acids, ammonia, acyl-carnitine profile) 1
• EEG results if seizure activity suspected 1

Additional Medical Documentation

• Complete audiogram results with specific thresholds 1
• Rubella titers if clinical indicators present 1
• Documentation of genetic counseling provided to family 2, 3

Comprehensive Developmental Assessment

Cognitive and Language Evaluation

Include both verbal and nonverbal cognitive measures, as working memory and processing speed deficits are prominent across the PTEN-ASD spectrum and likely in other ASD presentations. 1

• Full-scale IQ with verbal and nonverbal index scores 1
• Sustained attention assessment results 1
• Working memory evaluation scores 1
• Processing speed measures 1
• Receptive language assessment (standardized scores) 1
• Expressive language assessment (standardized scores) 1
• Pragmatic language skills evaluation for cognitively able children 1

Motor and Adaptive Function

Document motor dysfunction, as it has been observed in the early developmental course of nearly all PTEN-ASD cases and is common in ASD generally. 1

• Fine motor skills assessment 1
• Gross motor skills assessment 1
• Adaptive functioning across all domains (communication, daily living skills, socialization, motor skills) using standardized measures 1, 4

Behavioral and Psychiatric Assessment

Specify DSM-5 severity level (Level 1,2, or 3) for both social communication and restricted/repetitive behaviors domains. 1

• DSM-5 diagnostic criteria documentation with specific examples for each criterion met 1
• Severity level specification with justification 1
• Co-occurring psychiatric conditions (anxiety, depression, ADHD, etc.) with diagnostic criteria 1, 5
• Challenging behaviors documented: aggression, self-injury, elopement, pica 1
• Sleep disorder assessment 5
• Gastrointestinal symptoms documentation 5
• Seizure history and current status 5

Functional Assessment and Strengths

Document individual strengths and weaknesses to formulate a customized intervention plan, as this functional assessment is essential for treatment planning. 6

• Specific cognitive strengths identified 1
• Communication abilities and needs (including need for augmentative/alternative communication) 1
• Social interaction capabilities in various contexts 1
• Independent living skills current level 1
• Educational performance and needs 1

Family and Contextual Factors

Include family history and psychosocial factors, as these inform genetic counseling and support planning. 1, 4

• Three-generation family pedigree with attention to ASD, intellectual disability, psychiatric conditions 1
• Parental concerns and priorities 1
• Family functioning assessment 4
• Parent well-being measures 4
• Quality of life indicators 4
• Environmental resources and barriers 7

Recurrence Risk Counseling Documentation

Provide specific recurrence risk information to all families regardless of whether an etiology is identified. 2

• If no etiology identified: full sibling recurrence risk 3-10% (7% if affected child is female, 4% if affected child is male) 2
• If two or more affected children: at least 30% recurrence risk 2
• If genetic etiology identified: specific recurrence risk based on inheritance pattern 2

Treatment Recommendations and Follow-Up Plan

Document specific intensive behavioral intervention recommendations as first-line therapy, particularly for children ≤5 years, with pharmacotherapy reserved only for co-occurring conditions and specific target symptoms. 2, 3

• Specific behavioral intervention modalities recommended 2, 3
• Educational placement recommendations 1
• Speech-language therapy goals 1
• Occupational therapy needs 1
• Medications prescribed only for target symptoms (irritability, aggression) or comorbid conditions, not core ASD features 2, 3
• Follow-up schedule for monitoring development, treatment response, and emerging comorbidities 3
• Plan for periodic reevaluation if no definitive etiology identified 2

Critical Documentation Pitfalls to Avoid

• Never document an ASD diagnosis without formal audiogram results, as hearing loss can mimic ASD symptoms 1
• Do not order extensive genetic testing without clinical geneticist evaluation first, as the stepwise approach is more cost-effective 2
• Never fail to document recurrence risk information provided to families 2
• Do not document recommendations for medications targeting core ASD features, as these are ineffective 2, 3
• Avoid documenting only "snapshot" measures without developmental trajectory information when available 1