Questions and lessons can't be printed or saved as a PDF.
Which stand-out behaviour in the stem names the syndrome?
More, if you want it
Which behaviour does the patient show most?Tap a term: its definition, what you can do with it, and how often the exam asks it.
Definition: a happy child with sudden bursts of laughter, hand flapping and love of water.
You can: Tell Angelman syndrome from Rett syndrome by sudden laughter with hand flapping.
Definition: an over-friendly child with adult-sounding speech and poor spatial skills.
You can: Tell Williams syndrome from Fragile X syndrome by over-friendliness against gaze avoidance.
Definition: a shy child with gaze avoidance and joking speech.
You can: Tell Fragile X syndrome from Angelman syndrome by shy, joking speech, poor eye contact.
Definition: a boy with gout and compulsive self-mutilation.
You can: Tell Lesch-Nyhan syndrome from Smith-Magenis syndrome by self-mutilation with gout.
Definition: a child who hugs the self, self-injures and sleeps badly.
You can: Tell Smith-Magenis syndrome from Lesch-Nyhan syndrome by self-hugging with normal uric acid.
Definition: a child with endless hunger, obesity and skin picking.
You can: Tell Prader-Willi syndrome from Angelman syndrome by skin picking with endless hunger.
Definition: a girl who loses hand use and then wrings her hands.
You can: Tell Rett syndrome from Angelman syndrome by hand-wringing after lost hand use in girls.
Definition: a chromosome 5p deletion with a high cat-like cry.
You can: Tell cri-du-chat syndrome from Angelman syndrome by a high-pitched cat-like cry.
Definition: speech loss with seizures in a school-age child.
You can: Tell Landau-Kleffner syndrome from selective mutism by seizures with lost speech.
Each card is one term. The grey line is what the patient says, which is what the question stem gives.
Summary
Angelman syndrome shows a happy disposition with frequent paroxysmal laughter, severe learning disability and hand flapping.
shows a happy disposition with frequent paroxysmal laughter, severe learning disability and hand flapping. shows an outgoing, over-friendly, socially disinhibited personality with , meaning speech that sounds like a small adult.
Children with Angelman syndrome show hyperactivity and a fascination with water. Epilepsy is more common in Angelman syndrome and in fragile X syndrome. Children with Angelman syndrome wake at night, and some show autistic features and love music. Williams syndrome gives verbal skills stronger than spatial skills.
Children with Williams syndrome have visuospatial deficits, attention problems and anxiety. Fragile X syndrome causes social anxiety, shyness, gaze aversion, poor eye contact and jocular, joking speech.
Kofi, aged 6, sees a specialist nurse in a genetics clinic. Kofi laughs in sudden bursts and flaps his hands at the sink. His mother says, "He laughs at nothing and loves the bath."
| Syndrome | Manner with people | Speech |
|---|---|---|
| Angelman | Happy, sudden laughter | Severe learning disability |
| Williams | Over-friendly with strangers | Adult-sounding |
| Fragile X | Shy, avoids gaze | Joking |
A macrocephalic child who avoids gaze has .
Disinhibited social engagement disorder also gives friendly behaviour with strangers. Poor caregiving is its presumed cause. Williams syndrome comes from a gene deletion.
5 more sections on Genetic syndromes with signature behaviours
Log in free to read the rest: the full mental model, exam recognition, and the look-alikes that trip people up. Your daily session is free, always.
mrcpsych.co.uk · An independent study tool · not affiliated with the Royal College of Psychiatrists