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PS10.1,PS11.1 | Developmental Psychiatry — PBL Case

CLINICAL SETTING

Arjun is a 7-year-old boy from a semi-urban town in South India. His Class 2 teacher at a government primary school has written a letter to the school principal requesting a specialist review: 'Arjun does not make eye contact, does not interact with peers, insists on sitting in the same seat every day, and becomes very distressed when the classroom arrangement changes. He cannot follow multi-step instructions and his academic performance is well below grade level. He also displays repetitive hand movements during transitions.' Arjun is brought to the district hospital's paediatric outpatient department by his mother, who adds: 'He has always been different. He did not speak until he was 3 years old and still uses mostly single words or short phrases. He only plays with his toy tops — lining them up and spinning them for hours. He has no friends.' There is no history of regression. Birth history is unremarkable. His father works as a daily labourer and the family has limited financial resources. Arjun has no prior psychiatric evaluation.

Trigger 1: First Contact — School Referral and Initial History

At the district hospital OPD, the paediatrician takes a detailed history. Mother reports: - Arjun was born at term after an uncomplicated pregnancy. No neonatal complications. - First words at approximately 3 years. Currently communicates in 3-5 word phrases. Does not initiate conversation. - No pretend play observed at any age. Prefers solitary play with tops. Intense distress if routine changes. - Has never called friends home; ignores when called by name unless you physically approach him. - Does not make eye contact during conversation. - At school, he cannot follow more than one-step verbal instructions. - No seizures, no regression. - Family history: a paternal uncle is reported to be a 'loner' who 'talks oddly'. On examination: avoids eye contact, does not respond to name consistently, engages in repetitive spinning motions with his fingers. No dysmorphic features. Motor examination normal.

DISCUSSION POINTS

  • What are the core features in this history that suggest a neurodevelopmental disorder? Identify which features map to which diagnostic domain.
  • Based on history alone, what is your primary differential diagnosis at this point? What other conditions must be considered and why?
  • What aspects of Arjun's early development (language, social, play) are clinically significant? When should a clinician be concerned about language delay?
  • What structured tools or standardised instruments would you use to assess this child, and what information does each provide?
  • How does the family's limited financial and geographic access affect the diagnostic pathway you would pursue?
Click to reveal Trigger 2: Assessment — Formal Evaluation and Diagnostic Workup (discuss previous trigger first!)

Trigger 2: Assessment — Formal Evaluation and Diagnostic Workup

Arjun is referred to the tertiary psychiatry outpatient clinic. Over two assessment sessions: - Psychological testing: Full Scale IQ = 54 (Malin's Intelligence Scale for Indian Children, MISIC). Adaptive behaviour assessment (Vineland Adaptive Behaviour Scales): significant deficits in communication (age equivalent ~3 years), daily living skills (age equivalent ~3.5 years), and socialisation (age equivalent ~2.5 years). - ADOS-2 (Autism Diagnostic Observation Schedule): scores in the autism range across social affect and restricted/repetitive behaviour domains. - ADI-R (Autism Diagnostic Interview — Revised) with mother confirms onset of abnormalities before age 3 years, with deficits in social reciprocity, communication, and repetitive behaviours since early childhood. - EEG: normal. Karyotype: normal (46 XY). - Hearing test: normal. - A further observation: Arjun is noted to have significantly impaired concentration — he cannot sustain attention on tasks for more than 2 minutes, is easily distracted by peripheral stimuli, and frequently stands up and moves around the clinic room during breaks. His mother confirms this is consistent with his home behaviour.

DISCUSSION POINTS

  • Applying DSM-5 criteria, what diagnoses does Arjun now meet? What specifiers must be applied to the ASD diagnosis (intellectual impairment, language impairment, support level)?
  • Arjun's IQ is 54. How does DSM-5 grade severity of Intellectual Disability Disorder? Why is adaptive functioning assessment essential and not IQ alone?
  • The observation of inattention and hyperactivity raises the question of ADHD. Under DSM-5, can ADHD be co-diagnosed with ASD? How does this differ from DSM-IV? What criteria must be met for an ADHD co-diagnosis?
  • What is the significance of the normal karyotype and normal EEG in this assessment?
  • Why was Fragile X not identified by karyotype? What specific investigation would detect Fragile X, and what features in this vignette (if any) suggest or argue against it?
Click to reveal Trigger 3: Diagnosis and Multidisciplinary Management Plan (discuss previous trigger first!)

Trigger 3: Diagnosis and Multidisciplinary Management Plan

The psychiatrist makes the following DSM-5 diagnoses: 1. Autism Spectrum Disorder, Level 3 support (requiring very substantial support), with intellectual impairment, with language impairment. 2. Intellectual Disability Disorder, moderate severity (IQ ~54; significant adaptive functioning deficits across conceptual, social, and practical domains). 3. ADHD, combined presentation (co-diagnosis permitted under DSM-5; ≥6 inattentive symptoms + ≥6 hyperactive-impulsive symptoms, present before age 12, in ≥2 settings). The family is present with Arjun's mother, father, and maternal grandmother. The team includes a child psychiatrist, clinical psychologist, special educator, and occupational therapist. The family asks three questions: (a) 'Is there a tablet or injection that will cure him?' (b) 'Which school should he attend?' (c) 'Will he be able to work and live independently as an adult?'

DISCUSSION POINTS

  • How would you counsel the family regarding pharmacotherapy for ASD and IDD — specifically, is there any medication that corrects core ASD symptoms or reverses IDD? What medications, if any, are appropriate for Arjun and for which symptoms?
  • Design a multidisciplinary management plan for Arjun. Which interventions should be prioritised for ASD, IDD, and ADHD respectively? Who in the team leads each component?
  • What are the evidence-based non-pharmacological interventions for ASD (specify at least two) and for ADHD (specify behavioural and parent-training components)?
  • What school placement would you recommend for Arjun? What government provisions exist under the Rights of Persons with Disabilities (RPwD) Act 2016 in India for children with IDD and ASD?
  • What is the long-term prognosis for a child with level 3 ASD, moderate IDD, and ADHD? What factors predict better outcomes? How would you honestly address the family's question about independent adult living?

Learning Issues

Research these questions and bring your findings to the discussion.

  1. [PS10.1] What are the DSM-5 diagnostic criteria for ADHD (onset, duration, settings, subtypes) and ASD (two-domain model, specifiers, severity levels), and how does DSM-5 change the prohibition on ASD+ADHD co-diagnosis that existed in DSM-IV?
  2. [PS10.1] What are the evidence-based pharmacological and non-pharmacological management strategies for ADHD (methylphenidate first-line; multimodal approach) and for ASD (behavioural interventions as primary; no curative pharmacotherapy; drugs for comorbidities only)?
  3. [PS11.1] What are the DSM-5 diagnostic criteria for Intellectual Disability Disorder (three-criterion triad: intellectual deficits + adaptive deficits + developmental onset), how is severity graded (adaptive function, not IQ alone), and what are the major aetiological categories (genetic, prenatal, perinatal, postnatal) with key examples (Down syndrome, Fragile X, PKU, fetal alcohol syndrome)?
  4. [PS11.1] What is the multidisciplinary management of IDD (special education, OT, speech therapy, life-skills training, family support, vocational rehabilitation) and what preventive strategies exist (antenatal screening, neonatal PKU screening, immunisation, folic acid supplementation)?