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PE3.1-4,PE4.1-2 | Developmental Disorders — Graded Quiz
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A 2.5-year-old boy presents with no meaningful words, poor eye contact, does not respond to his name, and engages in repetitive spinning of objects. M-CHAT screening score is 8. His mother reports a normal neonatal period and no seizures. The next most appropriate step is:
A high M-CHAT score (≥3 total or ≥2 critical items) combined with the described social-communication deficits and RRBs warrants immediate comprehensive evaluation: hearing assessment (audiometry to exclude sensory hearing loss), full developmental evaluation by a developmental paediatrician, and early ABA-based intervention — all initiated simultaneously for best outcome.
Positive M-CHAT with ASD red flags requires urgent referral for comprehensive evaluation (including audiometry) and early ABA-based intervention — do not delay for 'watchful waiting'.
Watchful waiting until age 3 loses the critical early-intervention window. Risperidone targets irritability/aggression — not initial management of restricted behaviours in a newly suspected case. Brain MRI is rarely the first-line investigation unless there are focal neurological signs or regression suggesting a structural cause.
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An 8-year-old girl is referred for poor academic performance, inattention, and impulsivity noted since kindergarten. She has these symptoms at school AND at home. Cognitive testing shows IQ of 95. Teacher reports she 'daydreams' and loses focus but is not disruptive. She has no tics or anxiety disorder. The MOST likely diagnosis and appropriate management are:
This child has ADHD predominantly inattentive presentation (DSM-5: ≥6 inattentive symptoms, onset before 12, in ≥2 settings, for ≥6 months, without significant hyperactivity/impulsivity). For children aged 6–11, the IAP/NICE guideline first-line for school-age children is parent and teacher behaviour management training PLUS educational accommodations; pharmacotherapy (methylphenidate) is added when behaviour management alone is insufficient.
ADHD inattentive presentation: ≥6 inattentive symptoms, onset <12 years, ≥2 settings, ≥6 months. First-line management in school-age children: behaviour management training + educational accommodations; add methylphenidate if inadequate response.
Combined presentation requires ≥6 symptoms in BOTH inattentive AND hyperactive-impulsive domains — the child is not described as hyperactive-impulsive. SLD (dyslexia) affects reading specifically with normal attention. Childhood anxiety can mimic inattention, but the pervasive, multi-domain, multi-setting course with early onset is more consistent with ADHD.
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A 5-year-old with global developmental delay is found to have a karyotype of 47,XX+21. On examination, she has upslanting palpebral fissures, a single palmar crease, and hypotonia. Her echocardiogram shows an atrioventricular septal defect (AVSD). Which screening investigation is ALSO mandatory in this child at this age?
Down syndrome (trisomy 21) is associated with hypothyroidism in 15–20% of cases, increasing in frequency with age. Annual thyroid function testing (TSH and free T4) is mandatory for all individuals with Down syndrome — it is the most important preventable cause of additional cognitive decline in this population.
Down syndrome mandatory surveillance: annual thyroid function (hypothyroidism in 15–20%), hearing assessment, ophthalmology, and cardiac follow-up; hypothyroidism is a treatable cause of additional cognitive decline in trisomy 21.
EEG is indicated if seizures are clinically suspected, not as routine screening. Serum copper/caeruloplasmin screens for Wilson's disease (onset typically >5 years, not indicated routinely in Down syndrome). Urine organic acids are for metabolic disorders — not a routine Down syndrome screen.
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A developmental paediatrician is evaluating a 3-year-old with speech delay. She uses 10 single words, no 2-word phrases, and follows 1-step commands. DASII assessment shows a developmental quotient (DQ) of 62. Which of the following BEST describes the significance of a DQ of 62?
On DASII (Developmental Assessment Scale for Indian Infants), the Developmental Quotient (DQ) = Developmental Age / Chronological Age × 100. A DQ of 62 means the child is functioning at 62% of expected developmental level for her age — below the normal range (DQ ≥85). This places her in the mild-moderate global developmental delay range and requires further assessment including hearing evaluation, metabolic workup, and neuroimaging if indicated.
DASII DQ = developmental age ÷ chronological age × 100; normal ≥85. A DQ <70 indicates significant global developmental delay requiring full workup; formal ID diagnosis requires IQ testing + adaptive functioning assessment (reliable from age 5).
DQ ≥85 is considered normal on DASII. DQ 62 does not alone diagnose intellectual disability (which requires IQ assessment and adaptive functioning on formal neuropsychological testing in children ≥5 years). Borderline IQ refers to IQ 71–84, different from a DQ on DASII.
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A 10-year-old with ADHD (combined presentation) and no co-morbid tic disorder has failed an adequate trial of behaviour therapy. His parents consent to pharmacotherapy. Which medication is the FIRST-LINE pharmacological choice for ADHD in India for a school-age child?
Methylphenidate (a central nervous system stimulant) is the first-line pharmacological treatment for ADHD in school-age children per IAP guidelines. It inhibits dopamine and noradrenaline reuptake, improving attention, impulse control, and executive function. Immediate-release formulations are titrated from 0.3 mg/kg/dose and may be increased to a maximum of 1 mg/kg/day in divided doses.
Methylphenidate is the first-line pharmacological treatment for ADHD in school-age children; dose 0.3–1 mg/kg/day in divided doses; monitor weight, height, blood pressure, and heart rate regularly.
Atomoxetine (a selective noradrenaline reuptake inhibitor) is second-line — used when methylphenidate fails or when there is a co-morbid tic disorder or substance misuse risk. Clonidine (α2-agonist) is an adjunct for tics, sleep problems, or aggression. Amphetamine salts are not approved or widely available in India.
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During a visit to a Child Developmental Unit (CDU), a final-year medical student observes the multidisciplinary team. A 4-year-old with cerebral palsy is being assessed. Which professional is PRIMARILY responsible for evaluating and managing feeding difficulties and communication aids in this setting?
Speech-Language Pathologists (SLPs) in a CDU are responsible for assessing and managing both speech/language disorders and oropharyngeal dysphagia (feeding difficulties). They also evaluate and prescribe augmentative and alternative communication (AAC) devices for non-verbal children, making them central to this child's care.
The CDU multidisciplinary team includes: developmental paediatrician (coordinator), SLP (feeding + communication), physiotherapist (motor + posture), occupational therapist (ADLs + fine motor), clinical psychologist (cognitive + behavioural), and social worker (family support + resource linkage).
The developmental paediatrician coordinates the team and manages the overall plan. The physiotherapist addresses motor function, mobility, and tone. The paediatric neurologist manages neurological aspects (seizures, tone, aetiology). The SLP specifically owns feeding and communication.
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A genetic workup is ordered for a 5-year-old boy with unexplained intellectual disability, tall stature, macroorchidism, large ears, and a long narrow face. His maternal uncle has similar features. Chromosomal microarray is normal. Which ADDITIONAL test will MOST LIKELY confirm the diagnosis?
The clinical features — intellectual disability, macroorchidism (post-pubertal), large ears, long narrow face, maternal inheritance (X-linked) — are classic for Fragile X syndrome, caused by CGG trinucleotide repeat expansion in the FMR1 gene on the X chromosome. Chromosomal microarray does not detect this — specific molecular testing (Southern blot + PCR for FMR1 repeat size) is required.
Fragile X syndrome — most common inherited cause of intellectual disability: X-linked, CGG repeat expansion in FMR1 gene; features include macro-orchidism, large ears, long face, perseverative speech; diagnose by Southern blot + PCR (not chromosomal microarray).
22q11.2 deletion (DiGeorge syndrome) presents with cardiac defects, cleft palate, immune deficiency, and hypocalcaemia — not macroorchidism or the described facies. Trisomy 21 has its own distinctive features. Metabolic workup is appropriate for metabolic causes of ID, not the phenotype described.
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Parents bring a 30-month-old for evaluation. He has 5 words, no 2-word combinations, and normal hearing on audiometry. He makes good eye contact, points to share interest, and enjoys peek-a-boo. He has no repetitive behaviours. The MOST likely diagnosis is:
This child has isolated expressive language delay: normal joint attention (pointing), social reciprocity (peek-a-boo), and eye contact exclude ASD. Normal hearing excludes sensorineural hearing loss as a cause. Motor and cognitive development are not described as delayed, excluding GDD. This is a specific expressive language disorder — the child understands and socialises normally but has limited word output.
Isolated expressive language delay with preserved comprehension, normal joint attention (pointing, eye contact), and no RRBs distinguishes specific language delay from ASD and GDD — refer to SLP; consider audiometry if not already done.
ASD requires deficits in social communication AND restricted/repetitive behaviours — both absent here. GDD requires delay in ≥2 domains — only language is delayed here. ADHD does not cause language delay as a primary feature, especially at this age.
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A paediatrics resident is asked to counsel the parents of a newly diagnosed 4-year-old with ASD. The mother asks whether vaccines (specifically MMR) caused her child's autism. The MOST evidence-based and appropriate response is:
The MMR-autism claim originated from a fraudulent 1998 Wakefield study that was subsequently retracted by The Lancet after evidence of data manipulation. Over 20 large population-based studies (involving millions of children) consistently show NO causal link between MMR vaccine and autism. MMR does not contain thimerosal. Families must receive this information clearly and confidently to maintain vaccination coverage.
The MMR-autism claim is definitively disproved: the original Wakefield 1998 study was fraudulent and retracted; ≥20 large population-based studies confirm no causal link; MMR does not contain thimerosal; complete the National Immunization Schedule as planned.
Deferring vaccines based on a disproven claim exposes the child and community to measles/mumps/rubella. Avoiding the topic undermines informed consent and parental trust. Thimerosal is not present in MMR and its alleged role in autism has been definitively refuted by studies across multiple countries.
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A 4-year-old with moderate intellectual disability (IQ 40) and no other comorbidities is being assessed for educational placement. In India, which legislative framework governs inclusive education and disability rights for this child?
The Rights of Persons with Disabilities (RPWD) Act 2016 replaced the Persons with Disabilities Act 1995. It expanded the number of recognised disabilities from 7 to 21 (including autism, specific learning disability, and intellectual disability), mandated 5% reservation in government jobs and higher education, and strengthened the right to inclusive education. Paediatricians must know this Act when counselling families about educational entitlements.
Rights of Persons with Disabilities (RPWD) Act 2016 — 21 recognised disabilities including ID and ASD; mandates inclusive education, early intervention services, and 5% government reservation; replaced the 1995 PDA; paediatricians should counsel families on these entitlements.
The 1995 PDA was superseded by RPWD 2016. Mental Healthcare Act 2017 addresses mental illness and hospital-based psychiatric care — not educational rights for children with ID. POCSO 2012 addresses child sexual abuse offences — entirely different domain.
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