Intellectual Disabilities Flashcards

1
Q

What is Trisomy 21?

A

Down’s syndrome

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2
Q

What psychiatric conditions are related to Down’s syndrome?

A
  • Depression

- Alzheimer’s

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3
Q

What is the definition of an intellectual disability?

A
  • Reduced ability to understand new or complex information or use new skills
  • Reduced ability to cope independently
  • A condition that started before adulthood with lifelong effects on the individual’s development
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4
Q

What is the IQ threshold for intellectual disability?

A

< 70

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5
Q

What is Fragile X Syndrome?

A

An X-linked dominant disorder (CGG triplet repeat) characterised by intellectual difficulties, long and narrow face, large ears, flexible fingers and large testicles in males.

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6
Q

What mental health problems is Fragile X Syndrome associated with?

A
  • Autism
  • ADHD
  • Anxiety
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7
Q

What is CIPOLD?

A

Confidential Inquiry into Premature deaths of people with learning disabilities

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8
Q

What is another term for DiGeorge Sydrome?

A

Velocardiofacial Syndrome

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9
Q

What is DiGeorge Syndrome?

A

22q11.2 syndrome which is a microdeletion on the long arm of chromosome 22

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10
Q

What are the classic signs and symptoms of DiGeorge Syndrome?

A
  • Congenital heart disease
  • Palate defects
  • Learning disabilities
  • Mild changes to facial features
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11
Q

What mental health conditions are associated with DiGeorge Syndrome?

A
  • Schizophrenia
  • ADHD
  • Anxiety
  • ASD
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12
Q

What is Angelman Syndrome?

A

A genetic disease characterised by neurological deficits caused by a defect in chromosome 15.

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13
Q

What are the characteristic signs and symptoms of Angelman Syndrome?

A
  • Small head
  • Intellectual disability
  • Developmental disability
  • Speech difficulties
  • Seizures
  • Sleep problems
  • Happy personality
  • Interest in water
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14
Q

What mental health problems are associated with Angelman Syndrome?

A
  • Hyperactivity

- Short attention span

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15
Q

What is Smith-Magenis Syndrome?

A

A rare genetic disease caused by abnormalities in the short arm of chromosome 17

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16
Q

What are the characteristic signs and symptoms of Smith-Magenis Syndrome?

A
  • Broad and square face, deep-set eyes, large cheeks and prominent jaw
  • Intellectual disability
  • Difficulty sleeping
  • Behavioural problems
17
Q

What are the mental health problems associated with Smith-Magenis Syndrome?

A

Self harm

18
Q

What is the prevalence of dementia in people with Down’s syndrome?

A

90%

19
Q

What is the most common type of seizure in IDs?

A

Complex partial seizures

20
Q

What is William’s Syndrome?

A

A rare genetic disorder caused by deletion of genes on the long arm of chromosome 7

21
Q

What are the characteristic signs and symptoms of William’s syndrome?

A
  • Broad forehead, underdeveloped chin, short nose and full cheeks
  • Mild/moderate intellectual disability
  • Outgoing personality
  • Small widely spaced teeth
  • Supravalvular aortic stenosis
  • Short stature
22
Q

What mental health conditions are associated with William’s syndrome?

A
  • ADHD
  • Anxiety
  • Phobia
23
Q

What is Rett Syndrome?

A

A rare disease caused by X Chromosome MECP2 gene mutation. It is an X-linked dominant inheritance.

24
Q

What are the characteristic signs and symptoms of Rett Syndrome?

A
  • Regression after a relatively normal period of development
  • Microcephaly
  • Handwringing
  • Scoliosis
  • Almost exclusively female
25
Q

What mental health disorders are associated with Rett Syndrome?

A
  • ASD

- Irritability