Autistic Spectrum Disorder Clinical Overview
I. The "On-Call" Snapshot
Clinical Significance in Malaysia: This is a common neurodevelopmental disorder you will encounter during child health surveillance at the Klinik Kesihatan. Early screening and referral from your end is the single most important step to improve long-term outcomes.
High-Yield Definition: As per the DSM-5-TR, Autism Spectrum Disorder is a neurodevelopmental disorder characterised by persistent deficits in two core areas: 1) Social communication and social interaction across multiple contexts; and 2) Restricted, repetitive patterns of behaviour, interests, or activities. These symptoms must be present in the early developmental period.
Clinical One-Liner: Basically, the child has significant, persistent trouble with social interaction and communication, and shows unusually restricted or repetitive behaviours.
II. Etiology & Risk Factors
Etiology: It's multifactorial. There is no single cause. The primary driver is strong genetic predisposition, with hundreds of genes implicated. This is modified by various environmental factors (e.g., advanced parental age, very low birth weight, certain prenatal exposures). It is a disorder of brain development. It is NOT caused by vaccines.
Risk Factors:
Non-Modifiable:
Family history of ASD (highest risk factor).
Male gender (boys are about 4 times more likely to be diagnosed).
Certain genetic conditions (e.g., Fragile X syndrome, Tuberous Sclerosis).
Other Associated Factors:
Advanced paternal or maternal age.
Extreme prematurity and very low birth weight.
III. Quick Pathophysiology
Think of it as atypical brain connectivity. The "wiring" during early brain development is different. This leads to difficulties in processing social and sensory information. For example, the part of the brain that processes faces and social cues might be under-connected, while areas responsible for specific, focused tasks are over-connected. This explains why a child might ignore a parent's smile but be able to focus intensely on the spinning wheel of a toy car for hours. It’s not a behavioural choice; it’s a neurological difference.
IV. Clinical Assessment
Red Flags & Immediate Actions (During Child Health Surveillance):
No babbling or pointing by 12 months: → Document clearly, specifically ask parents about this.
No single words by 16-18 months: → Action: Perform the M-CHAT-R/F (Modified Checklist for Autism in Toddlers, Revised with Follow-Up).
No 2-word spontaneous phrases by 24 months: → Action: Perform M-CHAT-R/F.
ANY loss of language or social skills at ANY age: → This is a major red flag. Action: Immediate referral to a Paediatrician or Child and Adolescent Psychiatry (CAP) team.
Parental concern about development: → Action: Always take it seriously. Perform the M-CHAT-R/F even if the child seems "okay" to you.
History (Key features to ask parents):
Common (>50%):
Poor eye contact.
Not responding to their name being called.
Delayed speech and language development.
Repetitive movements (hand-flapping, rocking, spinning).
Intense interest in specific topics or objects.
Extreme distress at small changes in routine (insistence on sameness).
Unusual reactions to sensory input (sound, touch, taste).
Less Common (10-50%):
Unusual tone of voice (flat, singsong).
Does not share enjoyment or interests with others (e.g., doesn't point to show you a plane in the sky).
Difficulty understanding others' feelings or non-verbal cues (e.g., facial expressions).
Pertinent Negatives: Ask about hearing (to rule out deafness as a cause for not responding) and general motor milestones (to assess for global delay).
Physical Examination:
The general physical exam is often normal. Your focus is on observation of the child's behaviour.
Observe: Do they make eye contact with you? Do they respond to their name? How do they play with the toys in the room (functional vs. repetitive)? Do they interact with their parents? Do they show any repetitive motor mannerisms?
Look for dysmorphic features that might suggest an underlying genetic syndrome.
Perform a basic neurological and hearing assessment.
Clinical Pearl: Don't be fooled by a child with good vocabulary. Some children with ASD can have excellent rote memory for words (echolalia) or speak at length about their special interests, but they lack the social reciprocity of a typical conversation. It's the use of language for social connection that is impaired.
V. Diagnostic Workflow
Differential Diagnosis:
Global Developmental Delay (GDD) / Intellectual Disability:
Points For: Delay across multiple domains (motor, language, social).
Points Against: In ASD, motor skills can be normal or even advanced. The social deficit is disproportionately severe compared to other developmental domains.
How to Differentiate: Formal developmental assessment (e.g., by a Developmental Paediatrician) is required. The core features of restricted/repetitive behaviours point more towards ASD.
Social (Pragmatic) Communication Disorder:
Points For: Similar difficulties with the social use of language and communication.
Points Against: Lacks the restricted, repetitive patterns of behaviour, interests, or activities required for an ASD diagnosis.
How to Differentiate: This is a diagnosis of exclusion made by a specialist. If repetitive behaviours are present, it's ASD.
Hearing Impairment:
Points For: Child doesn't respond to name, language is delayed.
Points Against: A deaf child will still try to communicate non-verbally (pointing, gesture, eye contact). A child with ASD has impairment in both verbal and non-verbal social communication.
How to Differentiate: Formal audiological assessment is mandatory for all children suspected of ASD.
Investigations Plan (As per MOH CPG):
Screening (Primary Care / KK):
M-CHAT-R/F: The standard screening tool used in Malaysia at the 18-month and 24-month child health checks. A positive screen is not a diagnosis; it's a trigger for referral.
Referral & Specialist Assessment (Hospital):
This is where the diagnosis is made. It's a clinical diagnosis based on comprehensive history from multiple sources and direct observation of the child. Standardised tools like ADOS-2 (Autism Diagnostic Observation Schedule) or ADI-R (Autism Diagnostic Interview-Revised) are the gold standard, used in tertiary centres.
First-Line Investigations (To rule out other causes):
Formal Audiology Assessment: Mandatory to exclude hearing impairment.
Selective Investigations (If clinically indicated):
Genetic Testing (e.g., chromosomal microarray, Fragile X testing): If there are dysmorphic features, a family history of genetic disorders, or co-occurring intellectual disability.
VI. Staging & Severity Assessment
We use the DSM-5-TR severity levels. This is crucial because it determines the intensity of support needed. The level is assigned for both social communication and restricted/repetitive behaviours.
Level 1: "Requiring support"
Description: Without supports in place, deficits in social communication cause noticeable impairments. The child has difficulty initiating social interactions. Restricted/repetitive behaviours interfere with functioning in one or more contexts.
Impact on Management: May function in a mainstream school with support (Program Pendidikan Khas Integrasi - PPKI). Requires therapy to learn social skills.
Level 2: "Requiring substantial support"
Description: Marked deficits in verbal and nonverbal social communication skills; social impairments are apparent even with supports in place. Restricted/repetitive behaviours are obvious to a casual observer and interfere with functioning in a variety of contexts.
Impact on Management: Needs more intensive, structured therapy. May require a special education school (Sekolah Pendidikan Khas).
Level 3: "Requiring very substantial support"
Description: Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning. Very limited initiation of social interactions. Preoccupations and repetitive behaviours markedly interfere with functioning in all spheres.
Impact on Management: Requires very intensive, often one-on-one, therapy and support in all aspects of life.
VII. Management Plan
Management is non-pharmacological and focused on early intervention. There is no "cure." The goal is to improve functional skills and quality of life.
Immediate Stabilisation: Not applicable unless there are acute behavioural issues (e.g., severe self-injury), which would be managed by the CAP team.
Definitive Treatment (The Multidisciplinary Team Plan):
Referral is Key: Once suspected, refer to the hospital's multidisciplinary team: Developmental Paediatrician, Child Psychiatrist, Occupational Therapist (OT), Speech-Language Therapist (SLT), and Clinical Psychologist.
First-Line (Evidence-Based Interventions):
Early Intervention Programme (EIP): This is the cornerstone. It's a structured, intensive programme focusing on developing social, communication, and cognitive skills. In Malaysia, this is provided by MOH centres (less common), the private sector, and NGOs like NASOM (National Autism Society of Malaysia).
Applied Behaviour Analysis (ABA): A common evidence-based approach used in EIPs to teach new skills and reduce challenging behaviours.
Speech-Language Therapy: To improve both verbal communication and the understanding/use of non-verbal cues.
Occupational Therapy: Focuses on sensory integration issues, daily living skills (e.g., dressing, feeding), and fine motor skills.
Pharmacotherapy (For Co-morbidities):
We do NOT medicate the core symptoms of ASD.
Medication may be used by the CAP team for co-existing conditions like severe ADHD (Methylphenidate), aggression/irritability (Risperidone), or anxiety (SSRIs). This is a specialist decision.
Long-Term & Discharge Plan:
Education: Application for an OKU card (for persons with disabilities) which facilitates access to special education programmes under the Ministry of Education. Malaysia has a "Zero Reject Policy" (since 2019), meaning children with ASD have a right to education in mainstream schools, often within integrated special education classes (PPKI).
Parental Training & Support: Essential. Parents need to be taught strategies to manage behaviour and facilitate communication at home.
Regular Follow-Up: Lifelong follow-up with the developmental team to monitor progress and manage co-morbidities.
VIII. Complications
Immediate:
Meltdowns/Severe Challenging Behaviour: Management: Identify and remove the trigger (often sensory overload or change in routine). Create a calm, safe space.
Short-Term (Childhood/Adolescence):
Anxiety & Depression: Management: CBT adapted for ASD, sometimes SSRIs by a specialist.
ADHD: Management: Behavioural strategies, sometimes stimulants like Methylphenidate.
Sleep Disturbances: Management: Sleep hygiene education, melatonin may be considered by the paediatrician.
Long-Term (Adulthood):
Social Isolation: Management: Vocational training and supported employment programmes.
Underemployment/Unemployment.
Increased risk of other psychiatric conditions.
IX. Prognosis
Prognosis is highly variable and depends on two main factors: intellectual ability and language development.
Early diagnosis and intensive early intervention are the most important factors for a better outcome.
Individuals with average to high intelligence and functional language skills by age 5 have the best prognosis for independent living and employment.
It is a lifelong condition.
X. How to Present to Your Senior
"Dr., for review please. This is a 24-month-old boy, brought by his mother for routine check-up. Mother is concerned as he is not yet speaking any words and does not respond to his name. On observation, he makes poor eye contact and is preoccupied with spinning the wheels of a toy car. The M-CHAT screen was positive, scoring high risk. My main differential is Autism Spectrum Disorder. I would like to refer him to the paediatric team for formal diagnostic assessment and have already advised the mother on the referral process."
XI. Summary & Further Reading
Top 3 Takeaways:
Your job is to screen and refer early. Know the red flags for developmental delay.
Diagnosis is clinical, made by a specialist team. Your role is not to diagnose, but to suspect and act.
Management is via early, intensive, non-pharmacological intervention (EIP, OT, SLT). There is no medication for core ASD symptoms.
Key Resources:
Malaysian Guideline: Ministry of Health Malaysia. Clinical Practice Guidelines on the Management of Autism Spectrum Disorder in Children and Adolescents (2014). (Available on MOH website).
UpToDate: Search for "Autism spectrum disorder in children and
