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PE3.1-4,PE4.1-2 | Developmental Disorders — PBL Case

CLINICAL SETTING

The Child Developmental Unit (CDU) of a government medical college hospital in a tier-2 city in Tamil Nadu, India. The CDU runs twice weekly and is staffed by a developmental paediatrician, a speech-language pathologist (SLP), a physiotherapist, an occupational therapist (OT), and a social worker. A final-year MBBS student is posted here for a 2-week developmental paediatrics rotation.

Trigger 1: The First Visit

Ravi, a 2.5-year-old boy, is brought to the CDU by his mother, Meena (28 years, homemaker), and his maternal grandmother. Meena reports that Ravi 'doesn't listen to us', 'doesn't look at our faces', and 'is still not talking properly'. She says he uses only 4–5 words but rarely uses them meaningfully or to communicate. He does not wave 'bye-bye' or point at objects. He spends long periods spinning the wheels of a toy car and becomes extremely upset if his routine is changed. Meena first noticed something was 'different' around 18 months. The pregnancy was uneventful; delivery was at term by normal vaginal delivery; birth weight 3.1 kg; APGAR scores 8 at 1 minute and 9 at 5 minutes. There is no family history of similar conditions. The maternal grandmother says 'Boys speak late in our family. My husband also spoke late. He will be fine.' Meena appears anxious and distressed; she has been told by a local practitioner that Ravi has a 'speech delay' and that he will 'grow out of it'.

DISCUSSION POINTS

  • What are the developmental red flags in this history? Classify them by domain (social-communication, language, behaviour).
  • The grandmother believes Ravi simply has a family tendency for late speaking. How would you assess whether this is late-talker normal variation versus a neurodevelopmental disorder?
  • What is the first-line structured screening tool you would apply at this visit, and how would you administer and score it?
  • What is the significance of the APGAR scores reported — and does a normal birth exclude neurodevelopmental disorders?
Click to reveal Trigger 2: Examination and Screening Results (discuss previous trigger first!)

Trigger 2: Examination and Screening Results

On developmental assessment: Ravi's weight is 12.5 kg (50th centile), height 90 cm (50th centile), and head circumference 48 cm (25th centile — normal). He does not respond to his name consistently. He makes minimal eye contact. He does not point to objects to share interest (no protodeclarative pointing). He lines up toy cars repeatedly. He does not imitate actions. He has no pretend play. His expressive language consists of 4 echolalic words. He scores 7 on M-CHAT (critical items failed: does not point, does not follow a point, does not respond to name, no interest in other children). Hearing assessment by behavioural audiometry shows NORMAL hearing bilaterally. Otoscopy is normal. The medical student administers the DASII and calculates a developmental quotient (DQ) of 55 in language, 72 in personal-social, and 80 in motor domains. The developmental paediatrician examines Ravi and confirms no dysmorphic features, no neurocutaneous stigmata, and normal neurological examination. She tells the team she wants to make a provisional diagnosis.

DISCUSSION POINTS

  • Interpret the M-CHAT result and the DASII DQ scores. What do these findings tell you about the pattern of developmental involvement?
  • Based on DSM-5 criteria, what diagnosis would you consider? What two core domains must be present to make this diagnosis, and are both present in Ravi?
  • Hearing was tested and found normal. Why was this the first investigation, and what would a finding of sensorineural hearing loss have changed about the management plan?
  • What additional aetiological investigations (if any) would you order for Ravi, and what are you looking for with each test?
Click to reveal Trigger 3: Breaking the News and Counselling (discuss previous trigger first!)

Trigger 3: Breaking the News and Counselling

The developmental paediatrician has made a provisional diagnosis of Autism Spectrum Disorder (ASD), DSM-5, Level 2 (requiring substantial support). She asks the medical student to observe the counselling session with Meena. When told the diagnosis, Meena breaks down. She says: 'My mother-in-law will blame me. They will say it is because of the phone I used during pregnancy. Is it because of the MMR vaccine he got at 15 months? Someone in my WhatsApp group said that is why children get autism. How will he ever go to school? Is this my fault?' The grandmother says nothing and looks away. The paediatrician counsels Meena calmly. She explains the diagnosis in simple Tamil. She addresses the vaccine concern directly, citing the scientific consensus. She explains the multifactorial cause without assigning blame. She outlines the management plan: immediate referral for ABA therapy, speech-language therapy, early intervention school programme, and a follow-up review in 4 weeks.

DISCUSSION POINTS

  • How would you address Meena's concern about the MMR vaccine causing autism? What is the scientific evidence, and how do you communicate it without dismissing her concern?
  • What are the principles of breaking bad news in paediatric developmental diagnosis? Apply the SPIKES protocol or an equivalent framework to this scenario.
  • How would you involve the grandmother constructively, given her initial dismissal of Ravi's difficulties?
  • Outline the IMMEDIATE management steps the paediatrician recommended and the rationale for early, intensive intervention in ASD.
Click to reveal Trigger 4: Three Months Later — Progress and a New Sibling Concern (discuss previous trigger first!)

Trigger 4: Three Months Later — Progress and a New Sibling Concern

Ravi returns for his 3-month follow-up. He has been attending ABA therapy 3 times per week and speech therapy once weekly. Meena reports he has started using 15 words (up from 4), makes brief eye contact more often, and no longer melts down with every routine change. He has started at a special school that uses the TEACCH (Treatment and Education of Autistic and Communication-Handicapped Children) approach. His younger sister, Divya (now 18 months), has been brought today because Meena is worried about her development. Divya does not respond to her name consistently and has only 2 words. Meena asks whether Divya also has autism. At today's visit, Meena also asks: 'The school says I need a disability certificate for Ravi to access government scheme benefits. Where do I get this? And is there a law that protects his rights?' The social worker on the team explains the relevant Indian legal framework and links the family to state disability services.

DISCUSSION POINTS

  • How would you approach developmental screening for Divya at 18 months? Apply the M-CHAT and interpret the implications of the findings given the family history of ASD.
  • What is the recurrence risk of ASD in a sibling, and how would you counsel Meena about Divya?
  • Describe the rights and entitlements available to Ravi under the Rights of Persons with Disabilities (RPWD) Act 2016, including the process for obtaining a disability certificate in India.
  • Evaluate Ravi's progress after 3 months. What outcome markers indicate a good response to ABA therapy, and what would prompt you to escalate or modify the intervention?

Group Task Assignments

Group 1: Collaborative Task

Group 2: Collaborative Task

Group 3: Collaborative Task

Group 4: Collaborative Task

Learning Issues

Research these questions and bring your findings to the discussion.

  1. [PE3.1] What are the causes of developmental delay and disability (genetic, prenatal, perinatal, postnatal)? What is the definition of intellectual disability per DSM-5/ICD-11?
  2. [PE3.2] How does a paediatrician approach a child with developmental delay? What structured tools (M-CHAT, DASII, DDST-II) are available and how are they applied?
  3. [PE3.3] How should a paediatrician counsel parents of a child with a newly diagnosed neurodevelopmental disorder? What communication principles apply when addressing parental guilt, cultural beliefs, and misinformation (e.g., vaccine-autism myth)?
  4. [PE3.4] What is the role of each team member in a Child Developmental Unit — developmental paediatrician, SLP, physiotherapist, OT, clinical psychologist, special educator, and social worker?
  5. [PE4.1] What are the aetiology, clinical features, DSM-5 diagnostic criteria, and management of ADHD? What is the evidence for methylphenidate in school-age children?
  6. [PE4.2] What are the aetiology, clinical features, DSM-5 diagnostic criteria, and management of Autism Spectrum Disorder? What is the evidence base for ABA therapy and early intensive behavioural intervention?