Membership of the Royal College of Paediatrics and Child Health (MRCPCH) Neurology, Development, Behaviour and Mental Health Flashcards

24 sample cards from the Neurology, Development, Behaviour and Mental Health deck

Sampled from the end of the deck, so these are different cards from the ones shown on the syllabus page.

1. What is the most common inherited cause of intellectual disability and its mechanism?

   Fragile X syndrome: X-linked, caused by CGG trinucleotide repeat expansion ($>200$ repeats) in the FMR1 gene causing gene silencing. Features: long face, large ears, macro-orchidism, intellectual disability, autism, and joint laxity. Most common monogenic cause.

2. What newborn hearing screening test is used, and what follow-up test is performed if abnormal?

   Otoacoustic emissions (OAE) are used for universal newborn screening. If OAEs are abnormal/absent, automated auditory brainstem response (AABR/ABR) testing is performed. ABR assesses the auditory pathway and is the gold standard for confirming sensorineural hearing loss.

3. Which age-appropriate hearing tests are used at different ages in childhood?

   Newborn: OAE/AABR. ~6-9 months: distraction testing. ~2-3 years: visual reinforcement audiometry / performance (play) audiometry. $\geq 4$ years (or developmentally able): pure-tone audiometry. Tympanometry assesses middle-ear function at any age.

4. How is vision assessed in infants versus older children?

   Infants: red reflex (rule out cataract/retinoblastoma), fixing and following, response to faces, and looking-based tests (e.g. preferential looking/Cardiff cards). Toddlers: picture/matching tests (e.g. Kay pictures). Older children: Snellen or logMAR letter charts and cover test for squint.

5. What is developmental coordination disorder (dyspraxia)?

   A motor coordination impairment (well below expected for age) that significantly interferes with daily activities and academic achievement, not explained by intellectual disability, visual impairment, or a neurological condition like cerebral palsy. Onset is in the developmental period.

6. Why is multidisciplinary team (MDT) working essential in managing children with neurodisability?

   Children with conditions like cerebral palsy or complex disability have needs across domains. The MDT typically includes paediatrician, physiotherapist, occupational therapist, speech and language therapist, dietitian, psychologist, specialist nurse, social worker, and education staff, providing coordinated, family-centred care.

7. What are the key principles of transition from paediatric to adult services?

   Transition should be planned, gradual, and start early (around age 13-14), be developmentally appropriate and young-person-centred, involve a named coordinator, ensure information transfer, and continue until the young person is settled in adult services (recommended up to ~18-25).

8. What are the two core domains required for a DSM-5 diagnosis of autism spectrum disorder?

   (1) Persistent deficits in social communication and social interaction across contexts (social-emotional reciprocity, nonverbal communication, relationships); and (2) restricted, repetitive patterns of behaviour, interests, or activities (stereotypies, insistence on sameness, fixated interests, sensory sensitivities). Symptoms present in the early developmental period and cause impairment.

9. What is the core diagnostic triad/feature set and subtypes of ADHD per DSM-5?

   ADHD features inattention and/or hyperactivity-impulsivity that are developmentally inappropriate, present before age 12, in $\geq 2$ settings, persisting $\geq 6$ months, and causing functional impairment. Presentations: predominantly inattentive, predominantly hyperactive-impulsive, and combined.

10. What is the first-line pharmacological treatment for ADHD in children and key monitoring required?

    Stimulants (methylphenidate first-line; lisdexamfetamine alternative). Non-stimulants (atomoxetine, guanfacine) are second-line. Monitor height, weight, appetite, sleep, blood pressure, and heart rate. Stimulants can suppress growth and appetite; baseline cardiac history/exam is needed.

11. How are tic disorders classified and what defines Tourette syndrome?

    Tics are sudden, rapid, recurrent, non-rhythmic motor movements or vocalisations. Tourette syndrome requires both multiple motor tics and $\geq 1$ vocal tic, present for $>1$ year, with onset before age 18. Provisional tic disorder is $<1$ year duration. Tics often co-occur with ADHD and OCD.

12. What is the first-line management approach for tic disorders?

    Psychoeducation and reassurance (many tics are mild and self-limiting). For impairing tics, behavioural therapy (Comprehensive Behavioural Intervention for Tics / habit reversal training) is first-line. Medication (e.g. alpha-2 agonists like clonidine, or antipsychotics) is reserved for severe cases.

13. What are the recommended sleep duration ranges for toddlers, pre-schoolers, and school-age children?

    Toddlers (1-2 years) ~11-14 hours/24 h, pre-schoolers (3-5 years) ~10-13 hours, school-age (6-12 years) ~9-12 hours, teenagers (13-18 years) ~8-10 hours (per 24 h, including naps where relevant).

14. What are parasomnias, and how do night terrors differ from nightmares?

    Parasomnias are undesirable events during sleep. Night terrors: arise from deep non-REM sleep (early night), child appears terrified/inconsolable, no recollection in the morning, common ages 3-8. Nightmares: occur in REM sleep (late night), child wakes fully and recalls the dream.

15. What behavioural strategies are first-line for childhood sleep difficulties?

    Good sleep hygiene: consistent bedtime routine, regular sleep/wake times, a dark quiet bedroom, avoidance of screens and caffeine before bed, and limiting daytime naps. Behavioural techniques (e.g. graduated extinction, positive bedtime routines) are first-line; melatonin is reserved for specific cases.

16. What is the management approach to functional constipation with overflow soiling in children?

    Disimpaction with an osmotic laxative (e.g. macrogol/polyethylene glycol), escalating the dose, followed by maintenance laxatives. Combine with behavioural measures: scheduled toileting, a reward system, adequate fluid and fibre, and addressing withholding behaviour. Overflow soiling resolves as the impaction clears.

17. How are nocturnal enuresis and feeding difficulties (e.g. avoidant/restrictive intake) approached behaviourally?

    Enuresis: reassurance under age 5, fluid/toileting advice, reward systems, then an enuresis alarm (first-line in older children), with desmopressin for short-term/rapid control. Feeding difficulties: structured mealtimes, neutral non-coercive feeding, exposure to new foods, and exclude organic/sensory causes (e.g. ARFID in autism).

18. What distinguishes separation anxiety disorder and generalised anxiety disorder in children?

    Separation anxiety: excessive, developmentally inappropriate distress about separation from attachment figures, with reluctance to go to school, somatic complaints, and fear of harm to caregivers. GAD: excessive, hard-to-control worry about many areas (school, health, performance) with restlessness, fatigue, and irritability.

19. What is the first-line treatment for moderate-to-severe depression in adolescents?

    Psychological therapy (CBT or interpersonal therapy) is first-line. If a medication is needed, fluoxetine is the SSRI of choice in children/adolescents. Antidepressants carry a warning for increased suicidal ideation in young people, requiring close monitoring, especially in the first weeks.

20. What factors increase the risk of completed suicide in young people who self-harm?

    Male sex, older adolescence, previous self-harm or attempts, a clear plan or use of violent/lethal means, a psychiatric disorder (especially depression), substance misuse, hopelessness, social isolation, access to means, and a family history of suicide. A risk assessment guides safety planning.

21. What are the diagnostic features distinguishing anorexia nervosa from bulimia nervosa?

    Anorexia nervosa: restriction of energy intake leading to significantly low body weight, intense fear of weight gain, and disturbed body image. Bulimia nervosa: recurrent binge eating with compensatory behaviours (vomiting, laxatives, exercise) but typically normal or above weight. Both feature overvaluation of weight/shape.

22. What dangerous complication can occur on refeeding malnourished patients, and what is its hallmark?

    Refeeding syndrome: a dangerous fluid and electrolyte shift on reintroducing nutrition. The hallmark is hypophosphataemia (also hypokalaemia, hypomagnesaemia, thiamine deficiency), which can cause cardiac failure and arrhythmia. Prevent by slow caloric reintroduction, electrolyte monitoring/replacement, and thiamine supplementation.

23. What characterises somatic symptom and functional disorders in children, and the management approach?

    Genuine physical symptoms (e.g. pain, fatigue, non-epileptic seizures, functional neurological symptoms) causing distress/impairment, not fully explained by an organic cause, with disproportionate thoughts/behaviours. Management: validate symptoms, avoid over-investigation, a rehabilitative biopsychosocial MDT approach, address stressors, and CBT/physiotherapy.

24. What framework summarises the key domains of adolescent psychosocial risk assessment?

    HEADSS(S): Home, Education/Employment, Activities, Drugs, Sexuality, Suicide/depression (and Safety). It is a structured way to assess risk-taking behaviours and psychosocial wellbeing in adolescents, ideally conducted with the young person seen confidentially.

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