Signs of Autism Spectrum Disorder
Autism spectrum disorder presents with two core domains: impairments in social communication/interaction and restricted, repetitive patterns of behavior, with onset in early childhood. 1
Core Social Communication Deficits
The social impairments in autism are striking and represent the most defining feature:
- Poor or absent eye contact is a hallmark feature, particularly noticeable in preschool children 2
- Marked lack of interest in other people, in stark contrast to the profound social interest of normal infants 1
- Failure to respond to name when called, often leading parents to worry the child might be deaf 1, 3
- Refusal to be held or cuddled, indicating impaired social-emotional reciprocity 2
- Impaired peer relationships, with lack of interest in playing with other children 1, 4
- Absent or limited use of gestures in communication, such as not pointing to show interest or using conventional gestures 1, 3
- Lack of imaginative or make-believe play that would be developmentally appropriate 1, 3
Communication and Language Abnormalities
Language deficits vary widely but are universally present:
- Delayed or total lack of spoken language, with no attempt to compensate through alternative means 1
- Language regression, where a child speaks and then stops, though this is less common than delayed onset 2
- Echolalia (immediate or delayed repetition of words or phrases) 1
- Pronoun reversal (e.g., saying "you" instead of "I") 1
- Stereotyped, repetitive, or idiosyncratic language patterns 1
- Concrete, literal interpretation of language 1
- One-sided, pedantic speech in higher-functioning individuals, often focused on circumscribed interests 1
Restricted, Repetitive Behaviors and Interests
These behaviors become more prominent over time:
- Stereotyped motor mannerisms, such as hand flapping, finger mannerisms, or body rocking 1, 2
- Extreme distress with changes in routine or environment, with marked resistance to transitions 1, 2
- Adherence to apparently nonfunctional routines or rituals 1
- Encompassing preoccupations with restricted topics or objects 1
- Persistent preoccupation with parts of objects rather than their intended use 1
- Self-stimulatory behaviors, which may include self-injury 1
Age-Specific Presentations
Infants and Toddlers (First 2 Years)
- May seem "too good" and undemanding as infants 1
- No response to name by 12 months 3
- Lack of joint attention behaviors (not showing or sharing interest) 1
- Inconsistent responsiveness to sounds or voices 1
Preschool Age (2-5 Years)
- Marked lack of interest in peers during typical ages for parallel and interactive play 4
- Absent or severely delayed speech and communication 1
- Restricted interests become more apparent 1
- Stereotyped movements are prominent 1
School Age and Adolescence
- Social and communication skills may increase somewhat, but deficits persist 1
- Problems with change and transitions may become more prominent 1
- A small subset shows marked developmental gains, while another subgroup may behaviorally deteriorate with tantrums, self-injury, or aggression 1
Critical Diagnostic Considerations
The male-to-female ratio is approximately 4:1, though females with autism tend to have more severe intellectual disability. 1
Two behaviors consistently differentiate autistic children from language-impaired peers: pointing for interest and use of conventional gestures. 1
The presence of communicative speech by age 5 years is a positive prognostic indicator, while its absence is a negative predictor of ultimate outcome. 1, 2
Common Pitfalls to Avoid
- Do not dismiss autism concerns because other developmental domains appear intact - children with autism may have normal or even advanced skills in some areas while showing profound social impairments 4
- Do not attribute all symptoms to intellectual disability alone - the social deficits in autism are qualitatively different and more severe than expected for cognitive level 1
- Do not confuse language delay alone with autism - children with pure language disorders maintain social interest, use gestures, and show attention to voice, which autistic children do not 1
- Recognize that some children may have a period of apparently normal development before regression, though most show abnormalities from infancy 1
Co-occurring Features
Children with autism have substantially elevated rates of:
- Epilepsy (approximately 20-25% have EEG abnormalities or seizure disorders, with higher rates in those with intellectual disability) 1, 3
- Intellectual disability (present in a significant subset) 3
- Anxiety disorders (11% vs 5% in general population) 3
- Depression (20% vs 7% in general population) 3
- Sleep difficulties (13% vs 5% in general population) 3
- Increased risk for accidental death, particularly drowning 1