Intellectual Disabilities Flashcards
(25 cards)
What is Trisomy 21?
Down’s syndrome
What psychiatric conditions are related to Down’s syndrome?
- Depression
- Alzheimer’s
What is the definition of an intellectual disability?
- 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
What is the IQ threshold for intellectual disability?
< 70
What is Fragile X Syndrome?
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.
What mental health problems is Fragile X Syndrome associated with?
- Autism
- ADHD
- Anxiety
What is CIPOLD?
Confidential Inquiry into Premature deaths of people with learning disabilities
What is another term for DiGeorge Sydrome?
Velocardiofacial Syndrome
What is DiGeorge Syndrome?
22q11.2 syndrome which is a microdeletion on the long arm of chromosome 22
What are the classic signs and symptoms of DiGeorge Syndrome?
- Congenital heart disease
- Palate defects
- Learning disabilities
- Mild changes to facial features
What mental health conditions are associated with DiGeorge Syndrome?
- Schizophrenia
- ADHD
- Anxiety
- ASD
What is Angelman Syndrome?
A genetic disease characterised by neurological deficits caused by a defect in chromosome 15.
What are the characteristic signs and symptoms of Angelman Syndrome?
- Small head
- Intellectual disability
- Developmental disability
- Speech difficulties
- Seizures
- Sleep problems
- Happy personality
- Interest in water
What mental health problems are associated with Angelman Syndrome?
- Hyperactivity
- Short attention span
What is Smith-Magenis Syndrome?
A rare genetic disease caused by abnormalities in the short arm of chromosome 17
What are the characteristic signs and symptoms of Smith-Magenis Syndrome?
- Broad and square face, deep-set eyes, large cheeks and prominent jaw
- Intellectual disability
- Difficulty sleeping
- Behavioural problems
What are the mental health problems associated with Smith-Magenis Syndrome?
Self harm
What is the prevalence of dementia in people with Down’s syndrome?
90%
What is the most common type of seizure in IDs?
Complex partial seizures
What is William’s Syndrome?
A rare genetic disorder caused by deletion of genes on the long arm of chromosome 7
What are the characteristic signs and symptoms of William’s syndrome?
- Broad forehead, underdeveloped chin, short nose and full cheeks
- Mild/moderate intellectual disability
- Outgoing personality
- Small widely spaced teeth
- Supravalvular aortic stenosis
- Short stature
What mental health conditions are associated with William’s syndrome?
- ADHD
- Anxiety
- Phobia
What is Rett Syndrome?
A rare disease caused by X Chromosome MECP2 gene mutation. It is an X-linked dominant inheritance.
What are the characteristic signs and symptoms of Rett Syndrome?
- Regression after a relatively normal period of development
- Microcephaly
- Handwringing
- Scoliosis
- Almost exclusively female
