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A 22-month-old boy is brought by his parents because they are worried he is 'not like his sister was at this age'. He has no recognisable words (his sister had about 50 words by 18 months), does not respond to his name, makes very poor eye contact, and never points to or shows objects to his parents. He spends long periods lining up toy cars in a row and flapping his hands when excited, becomes extremely distressed if his mother takes a different route to the shops, and rejects most foods because of their texture. Pregnancy, birth and the first 10 months were normal; he sat at 7 months and walked at 13 months. He has lost the four words and the eye contact he had at 14 months. His maternal cousin has a diagnosis of autism spectrum disorder. Examination is otherwise normal; he has no dysmorphic features, no focal neurological signs and a normal head circumference.
Questions
a) What is the clinical diagnosis, and which DSM-5 criteria does this child fulfil? (2 marks)
The clinical diagnosis is autism spectrum disorder with regression. He fulfils all five DSM-5 criteria:[1][9]
- (A) Persistent deficits in social communication and social interaction across multiple contexts in all three sub-domains: impaired social-emotional reciprocity (no response to name, no sharing of interests); impaired nonverbal communicative behaviours (poor eye contact, no pointing or showing); impaired developing/maintaining/understanding relationships (poor social interest, no engagement).
- (B) Restricted, repetitive patterns of behaviour, interests or activities in at least 2 of 4 domains: stereotyped/repetitive motor movements and object use (hand-flapping, lining up cars); insistence on sameness (distress at route change); sensory hyper-reactivity (food-texture aversion).
- (C) Symptoms present in the early developmental period (here with regression at 14 months).
- (D) Clinically significant functional impairment in communication, social interaction and family life.
- (E) Not better explained by intellectual disability alone — his social communication is even more impaired than expected for his overall developmental level.
The history of regression (loss of words and eye contact at 14 months) occurs in about 15 to 25 percent of children with ASD and is itself a red flag.[1]
b) Outline your immediate diagnostic plan, naming the specific investigations you would order and the rationale for each. (2 marks)
The diagnosis is clinical against DSM-5 criteria; there is no confirmatory blood test or scan. The immediate plan is multidisciplinary and symptom-driven:[1]
- Audiology assessment (audiometry and/or auditory brainstem response) — MANDATORY in every child with delayed language and every suspected ASD referral, to exclude hearing impairment as a cause.
- Sleep-deprived or sleep EEG — to exclude Landau-Kleffner syndrome (acquired epileptic aphasia with epileptiform EEG) in this child with regression, and to detect subclinical epileptiform activity.
- Chromosomal microarray (CMA) and fragile X (FMR1) testing — recommended for ALL confirmed cases; in a child with regression and a normal head circumference this is the genetic minimum.
- Metabolic workup is reserved for severe/profound regression, dysmorphism, organomegaly or developmental plateau — not strictly indicated here but should be considered.
- Referral for multidisciplinary diagnostic assessment (paediatrician, psychologist, speech-language therapist, occupational therapist) using the ADOS-2 and ADI-R, and simultaneous referral to early intervention services (do NOT wait for diagnostic confirmation to begin intervention).
- MRI brain is NOT routine — reserved for focal neurological signs, abnormal head size, or a catastrophic/prolonged regression; not indicated here.
c) Describe the comprehensive management plan you would offer this child, naming the specific therapies, drugs (with dose/route where relevant) and the evidence base. (4 marks)
The management is early, intensive, multidisciplinary and individualised, with no medication for the core ASD.[1][6][9]
- Early intensive behavioural and developmental intervention (FIRST-LINE) — the Early Start Denver Model (ESDM) is the naturalistic, play-based intervention of choice for children aged 12 to 48 months. The Dawson 2010 randomised controlled trial (Pediatrics) showed significant gains in IQ, receptive and expressive language, and adaptive behaviour in toddlers receiving ESDM versus community care. Other models: Applied Behaviour Analysis (ABA), Early Intensive Behavioural Intervention (EIBI, Lovaas, 20 to 40 hours per week), Pivotal Response Training (PRT), and TEACCH structured teaching with visual supports.
- Communication — speech and language therapy targeting receptive, expressive and pragmatic language; for this non-verbal child, Picture Exchange Communication System (PECS) and augmentative and alternative communication (AAC) devices.
- Occupational therapy — sensory integration therapy (evidence mixed but widely used), motor coordination, activities of daily living, environmental modification, visual schedules.
- Education — individualised education plan (IEP / EHCP / 504) with a structured, predictable environment, visual timetables and movement/sensory breaks.
- Family-centred support — parent-mediated intervention and parent training, sibling support, respite care, financial/benefits advice, signposting to parent-led organisations.
- Comorbidity surveillance and treatment — ADHD (40 to 50 percent), anxiety (40 percent), epilepsy (20 to 30 percent), sleep disturbance (50 to 80 percent), GI problems and feeding.
- Pharmacotherapy is symptom-targeted only: for severe irritability/aggression/self-injury refractory to behavioural measures, risperidone 0.5 to 3 mg/day PO (FDA-approved for ages 5 to 16; McCracken 2002 RUPP trial) or aripiprazole 5 to 15 mg/day PO (Marcus 2011; ages 6 to 17), with baseline and periodic monitoring of weight, BMI, fasting glucose and lipids, prolactin, EPSE/AIMS and ECG. For sleep, melatonin 2 to 6 mg PO at bedtime is evidence-based.
- Treatments NOT recommended — chelation, hyperbaric oxygen, secretin, megadose vitamins, gluten-free/casein-free diet, facilitated communication, MMS (no evidence; several harmful).
d) Six months later the child presents with continuous self-injurious hand-biting and aggression to his mother for 4 hours, escalating despite behavioural measures and a structured routine. He is in the emergency department. Outline the immediate management priorities. (1 mark)
This is an acute severe behavioural disturbance in a child with ASD. Immediate priorities:[8][7]
- Safety of the patient and others; reduce sensory and environmental triggers (quiet low-stimulation room, dim lights, remove unnecessary staff, allow a trusted caregiver and familiar objects).
- De-escalation using visual supports, predictable language and a calm approach.
- Pharmacological intervention only as a last resort when there is imminent risk: short-acting benzodiazepine (lorazepam 0.05 mg/kg PO/IM, maximum 2 mg) OR a low-dose antipsychotic (risperidone 0.25 to 0.5 mg PO/IM, or olanzapine 5 mg orodispersible).
- Exclude organic precipitants — pain (dental, otitis, constipation, fracture), intercurrent infection, seizure, medication side effect, sleep deprivation, change in routine — because diagnostic overshadowing (attributing behavioural change to 'the autism' rather than to a treatable medical cause) is a major pitfall.
- Multidisciplinary review (paediatric psychiatry, psychology, OT, SALT) to plan a longer-term behavioural and pharmacological regimen.
e) The parents have read online that vaccines caused their son's autism. How do you counsel them? (1 mark)
There is no causal link between vaccines — including the measles-mumps-rubella (MMR) vaccine — and autism. The 1998 Wakefield Lancet paper was retracted as fraudulent (the data were fabricated, with undisclosed conflicts of interest and no ethical approval). The largest and most rigorous epidemiological studies — most notably Hviid et al. 2019, Annals of Internal Medicine, a Danish nationwide cohort of over 657 000 children — found no association between MMR and autism, including in subgroups of children with sibling history of autism. The regression in this child is a recognised feature of ASD occurring in 15 to 25 percent, unrelated to vaccination. I would reassure the parents, support continued vaccination of their son and his siblings, and provide written reputable resources. Delaying or refusing vaccines leaves the child at risk of preventable, sometimes fatal, infections and undermines herd immunity.[1]
References6ShowHide
- [1]Hyman SL, Levy SE, Myers SM Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics, 2020.PMID 31843864
- [5]Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics, 2014.PMID 24366990
- [6]Dawson G, Rogers S, Munson J, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics, 2010.PMID 19948568
- [8]McCracken JT, McGough J, Shah B, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med, 2002.PMID 12151468
- [7]Marcus RN, Owen R, Kamen L, et al. Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder. J Clin Psychiatry, 2011.PMID 21813076
- [9]Lai MC, Lombardo MV, Baron-Cohen S. Autism. Lancet, 2014.PMID 24074734