# Autism spectrum disorder (recognition and referral)

- Category: chronic
- Review status: reviewed (every claim checked against a document named on this page)
- Sources: Autism Spectrum Disorder - StatPearls (NCBI Bookshelf NBK525976) - https://www.ncbi.nlm.nih.gov/books/NBK525976/ · Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-full.txt) · Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-clinical.txt)
- Verified date: 2026-08

## Verified against

- Autism Spectrum Disorder - StatPearls (NCBI Bookshelf NBK525976) - https://www.ncbi.nlm.nih.gov/books/NBK525976/
- Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-full.txt)
- Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-clinical.txt)

## Treatment metadata

- Recognition, screening and structured assessment (no drug therapy)
- Referral & safety-netting (no drug therapy)

## Complete treatment card

```text
AUTISM SPECTRUM DISORDER (RECOGNITION AND REFERRAL)
Sources: Autism Spectrum Disorder - StatPearls (NCBI Bookshelf NBK525976) -
         https://www.ncbi.nlm.nih.gov/books/NBK525976/ · Autism spectrum disorder - disease-level
         clinical article (autism-spectrum-referral-full.txt) · Autism spectrum disorder - disease-
         level clinical article (autism-spectrum-referral-clinical.txt)
Review status: REVIEWED against 3 sources listed above  (2026-08)

IS IT THIS? - reference only, to read alongside your own examination
  SYMPTOMS - what the patient reports (12)
    - Not responding to their own name by 12 months of age is an early red flag
    - Not pointing to show interest by 14 months is a red flag
    - Absence of pretend play by 18 months is a red flag
    - Avoids eye contact and seems to prefer being alone  [social withdrawal]
    - Delayed speech and language development
    - Repeats the same words or phrases over and over
    - Gives answers that do not match the question asked
    - Becomes distressed over small changes in routine
    - Narrow, obsessive interests and repetitive body movements
    - Unusual responses to sensory input
    - It may not fully show itself until social demands outgrow the person's capacity, and later in
      life it can be masked by strategies they have learnt
    - Sensory reaction runs either way: apparent indifference to pain or temperature, distress at
      particular sounds or textures, excessive smelling and touching of objects, or fascination with
      lights and movement
  SIGNS - what you find (3)
    - Physical exam looks for growth abnormalities, neurological signs, or dysmorphic and skin
      features of a neurocutaneous disorder
    - The repetition shows in movement, in the use of objects and in speech: simple motor
      stereotypies, lining toys up or flipping them, echolalia, phrases of the child's own
      [echolalia]
    - A clinic can overload the senses, and that overload ends in an involuntary shutdown or a
      meltdown
  TESTS (5)
    - No lab test or imaging study can diagnose ASD on its own
    - Metabolic work-up, plasma amino acids, urine organic acids, acylcarnitine levels, may be
      ordered if clinically indicated
    - Liver and thyroid function tests and a lead level may be checked if indicated
    - Neuroimaging is considered for atypical regression, an abnormal head size, seizures, an
      abnormal neuro exam, or cranial abnormalities
    - EEG is considered when there is seizure activity, regression, loss of speech, or another neuro
      symptom
  IF NOT THIS - what else fits (12)
    - Tuberous sclerosis complex: benign tumors in multiple organs plus skin findings and seizures
    - Fragile X syndrome, an inherited cause of intellectual disability with typical facial features
    - Angelman syndrome: severe intellectual disability with a small head and balance problems
    - Rett syndrome, mainly affecting girls, with loss of acquired speech and repetitive hand
      wringing
    - Down syndrome: distinctive facial features with intellectual disability and other medical
      issues
    - DiGeorge (22q11.2 deletion) syndrome: heart defects, a small thymus, and low calcium
    - Heavy metal exposure, particularly to mercury or lead
    - Inborn metabolic disorders, untreated hypothyroidism, or organophosphate exposure
    - An underlying seizure disorder, including atypical seizure types
    - ADHD as an alternative or co-occurring diagnosis
    - A primary language disorder or social communication disorder without autism
    - Chromosome 15q11-q13 duplication syndrome: low muscle tone with developmental delay
  Source  StatPearls "Autism Spectrum Disorder" - disease-level clinical article
  Status  traced to the source above

1. RECOGNITION, SCREENING AND STRUCTURED ASSESSMENT (NO DRUG THERAPY)[1st line]
   Adult    
   Source   Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-
            full.txt)
   Why      Recognition is the whole of the primary-care job here, and the article is explicit that
            nothing confirms it: there is no laboratory test and no imaging study that can establish
            a diagnosis of ASD. Screening is universal rather than triggered by a worry - the
            American Academy of Pediatrics asks that every child be screened, on the reasoning that
            intervening early may change how a child turns out.
   Caution  THE THREE EARLY RED FLAGS - a child who does not respond to their own name by 12 months,
            does not point at things to show you they are interested by 14 months, and is not
            playing pretend by 18 months.
            THE GENERAL RED FLAGS - avoiding eye contact and preferring to be alone; difficulty
            understanding what other people feel, or naming their own feelings; delayed speech and
            language; repeating the same word or phrase over and over; answers that do not fit the
            question; distress at small changes; narrow, obsessive interests; repetitive movements;
            and unusual reactions to what they see, hear, feel or taste. (Autism Spectrum Disorder -
            StatPearls - NCBI Bookshelf, NBK525976)
            WHAT THE ASSESSMENT MUST CONTAIN - a full history: past medical, developmental, social
            and family, with an eye on what can bear on development - prematurity, trauma, exposure
            to teratogens, and developmental problems elsewhere in the family. (Autism Spectrum
            Disorder - StatPearls - NCBI Bookshelf, NBK525976) A complete physical examination too:
            growth parameters, a detailed neurological examination, dysmorphic features, and any
            skin sign of a neurocutaneous disorder. (Autism Spectrum Disorder - StatPearls - NCBI
            Bookshelf, NBK525976) Hearing and vision are tested. (Autism Spectrum Disorder -
            StatPearls - NCBI Bookshelf, NBK525976) And a structured behavioural observation, which
            needs specific training to perform. (Autism Spectrum Disorder - StatPearls - NCBI
            Bookshelf, NBK525976)
            TEST THE HEARING BEFORE ACCEPTING THE LABEL. Hearing and vision tests are in the
            article's own assessment list, and a deaf child who does not turn to his name is not
            autistic.
            THE DIAGNOSIS IS MADE BY SOMEONE TRAINED TO MAKE IT - it takes a clinician trained in
            the criteria to put the history and the observation together. (Autism Spectrum Disorder
            - StatPearls - NCBI Bookshelf, NBK525976) The confirming tools are specialist
            instruments: the ADOS-2 cannot be given or scored without specific training. (Autism
            Spectrum Disorder - StatPearls - NCBI Bookshelf, NBK525976)
            TOOLS THAT CAN STRUCTURE A CLINIC INTERVIEW - a questionnaire such as the Social
            Communication Questionnaire or the Social Responsiveness Scale gives the interview a
            shape, and helps draw the history out. (Autism Spectrum Disorder - StatPearls - NCBI
            Bookshelf, NBK525976)
            WHAT TO EXCLUDE ON THE WAY - the article's environmental and metabolic differential is
            poisoning by a heavy metal, mercury and lead above all; the aminoacidurias;
            hypothyroidism; organophosphate exposure; and seizure disorders, atypical seizures in
            particular. Lead and organophosphate exposure are not rare in this setting.
            SEND FOR TESTS ONLY ON A REASON - the article images the brain where there is atypical
            regression, a head too small or too large, seizures, an abnormal neurological
            examination, or a cranial abnormality (Autism Spectrum Disorder - StatPearls - NCBI
            Bookshelf, NBK525976), and orders an EEG for seizures, for atypical regression, for loss
            of language, or for other neurological symptoms. (Autism Spectrum Disorder - StatPearls
            - NCBI Bookshelf, NBK525976)

2. REFERRAL & SAFETY-NETTING (NO DRUG THERAPY)            [1st line]
   Adult    
   Source   Autism spectrum disorder - disease-level clinical article (autism-spectrum-referral-
            clinical.txt)
   Why      What a family is owed once the referral is written, and why no prescription is offered
            alongside it: no medicine available today corrects the core symptoms of autism.
   Caution  NO DRUG IS PRINTED HERE, AND THAT IS THE ARTICLE'S POSITION, NOT AN OMISSION - no
            medicine now available corrects the core features of autism. (Autism Spectrum Disorder -
            StatPearls - NCBI Bookshelf, NBK525976) The psychotropics it lists (psychostimulants,
            atomoxetine, clonidine, guanfacine, atypical antipsychotics, serotonin reuptake
            inhibitors, valproic acid, venlafaxine) are named for co-occurring disorders only, and
            it states no strength, frequency or maximum for any of them, so no dose can be quoted
            and none is invented.
            WHEN A MEDICINE IS EVEN CONSIDERED, THE ORDER IS SET - a psychotropic comes into view
            only once behavioural work has proved insufficient against something serious -
            aggression, self-injury, insomnia, swings of mood - and any medical condition behind it
            has been treated. (Autism Spectrum Disorder - StatPearls - NCBI Bookshelf, NBK525976)
            That is a specialist decision taken after behavioural work and after physical causes are
            treated.
            LOOK FOR PAIN BEFORE LOOKING FOR A SEDATIVE - a change in behaviour should always raise
            the physical sources of discomfort: toothache, reflux, an ear infection, a fracture.
            (Autism Spectrum Disorder - StatPearls - NCBI Bookshelf, NBK525976) A non-speaking child
            in pain shows it as behaviour.
            REFER FOR GENETICS WHERE THE PICTURE FITS - referral for a paediatric genetic assessment
            should be considered. (Autism Spectrum Disorder - StatPearls - NCBI Bookshelf,
            NBK525976)
            WHAT THE INTERVENTION SHOULD LOOK LIKE - the article's marks of an evidence-based
            intervention are: assessment; goals that are set; decisions shared with the family;
            trained clinicians; services and support fitted to the individual; a structured place to
            learn; opportunities to be social; behavioural management; progress that is measured;
            support for the family; and planning for transitions. (Autism Spectrum Disorder -
            StatPearls - NCBI Bookshelf, NBK525976) Parent-implemented intervention is one of the
            practices the article counts as evidence-based.
            THE COMORBIDITY BURDEN IS THE REASON THE FAMILY KEEPS COMING BACK - in one study 74% of
            autistic people had at least one other condition alongside it. (Autism Spectrum Disorder
            - StatPearls - NCBI Bookshelf, NBK525976) And those conditions may present atypically
            here, which makes them harder to recognise. (Autism Spectrum Disorder - StatPearls -
            NCBI Bookshelf, NBK525976)
            WHAT TO SCREEN FOR AT REVIEW - the conditions that travel with autism, grouped by
            system. Sleep: disordered sleep. Neurological: epilepsy; macrocephaly; hydrocephalus;
            cerebral palsy; migraine and other headache; congenital malformations of the nervous
            system. Psychiatric: ADHD, anxiety, disorders of mood. Continence: soiling and bed-
            wetting. Metabolic: obesity. Behavioural: refusal of food, self-injury, aggression.
            (Autism Spectrum Disorder - StatPearls - NCBI Bookshelf, NBK525976)
            RED FLAG - MORTALITY IS RAISED, NOT NEUTRAL: autism carries a markedly higher risk of
            death from any cause, suicide included. (Autism Spectrum Disorder - StatPearls - NCBI
            Bookshelf, NBK525976)
            WHAT TO TELL PARENTS ABOUT THE OUTLOOK, HONESTLY - the things that point to a better
            outcome are stronger cognitive skills at 2 years of age, earlier entry into intervention
            services, fewer repetitive behaviours, a higher measured verbal IQ, and support from
            family and community. (Autism Spectrum Disorder - StatPearls - NCBI Bookshelf,
            NBK525976)
            SUPPORT THE PARENTS AS WELL AS THE CHILD - families living with autism carry a great
            deal: isolation, frustration, strained relationships and money trouble. The article's
            answer is care centred on the family and coordinated through a medical home, with the
            primary-care clinician planning and advocating alongside the family.

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