Syndromes/Disorders MCQs

Which syndrome is characterized by the deletion of 27 genes on chromosome 7?

a) Angelman syndrome

b) Williams syndrome

c) Prader-Willi syndrome

d) Downs Syndrome

Which syndrome is characterized by the deletion of 27 genes on chromosome 7?

a) Angelman syndrome

b) Williams syndrome

c) Prader-Willi syndrome

d) Downs Syndrome

b

Which syndrome is caused by the deletion of the UBE3A gene on the maternal chromosome 15?

a) Williams syndrome b) Angelman syndrome c) Prader-Willi syndrome

b

Which syndrome exhibits a characteristic look of small head and folds in the corner of the eyes?

a) Williams syndrome b) Angelman syndrome c) Prader-Willi syndrome

b

Which syndrome is associated with abnormalities in the frontal cortex and cerebellum, parietal cortex and amygdala?

a) Angelman syndrome b) Williams syndrome c) Prader-Willi syndrome

b

Which syndrome can lead to a person being more social?

a) Angelman syndrome b) Williams syndrome c) Prader-Willi syndrome

b

What syndrome can cause seizures and uncontrolled laughter?

a) Angelman syndrome b) Williams syndrome c) Prader-Willi syndrome

a

Which syndrome is associated with an insatiable appetite and underdevelopment in the hypothalamus?

a) Williams syndrome b) Angelman syndrome c) Prader-Willi syndrome

c

Which syndrome is reliant on the maternal gene for phenotype due to paternal imprinting of the UBE3A gene?

a) Williams syndrome b) Angelman syndrome c) Prader-Willi syndrome

b

What syndrome is characterised by chubby cheeks, flattened nose bridge and extended philtrum?

a) Williams syndrome b) Angelman syndrome c) Prader-Willi syndrome

a

Which type of cerebral palsy is characterized by damage to the basal ganglia?

a) Spastic cerebral palsy b) Dyskinetic cerebral palsy c) Ataxic cerebral palsy d) Hypotonic cerebral palsy

b

Which type of cerebral palsy typically involves slow continuous movements known as athetosis?

a) Spastic cerebral palsy b) Dyskinetic cerebral palsy c) Ataxic cerebral palsy d) Hypotonic cerebral palsy

b

Which area of the brain is primarily affected in ataxic cerebral palsy?

a) Motor cortex b) Basal ganglia c) Cerebellum d) White matter

c

Which of the following is NOT a treatment option for cerebral palsy?

a) Physiotherapy b) Speech therapy c) Radiation therapy d) Surgery

c

Which type of treatment involves reducing contractions from a muscle and is known as selective dorsal rhizotomy?

a) Physiotherapy b) Surgery c) Medications d) Assistive technology

b

What risk factor is NOT associated with cerebral palsy?

a) Oxygen deprivation during birth b) Maternal infection c) Microplastics d) Perinatal stroke

c

Which type of cerebral palsy is characterized by stiffness and hypertonia?

a) Dyskinetic cerebral palsy b) Ataxic cerebral palsy c) Spastic cerebral palsy d) Hypotonic cerebral palsy

c

Most common type of CP

a) Dyskinetic cerebral palsy b) Ataxic cerebral palsy c) Spastic cerebral palsy d) Hypotonic cerebral palsy

c

Hypertonia in one side of the body:

a)diplegia b) hemiplegia c) quadriplegia d) dystonia

b

Slow continious movements in CP

a) athetosis b) chorea c) dystonia

a

Medication NOT given to treat CP

a) muscle relaxants b) Pain relief c) SSRIs d) anticonvulsants

c

What is the most common autoimmune disease in Northern Europe?

a) Rheumatoid arthritis b) Multiple sclerosis c) Lupus d) Crohn's disease

b

What is the primary cause of demyelination in multiple sclerosis (MS)?

a) Immune attacks on neurons b) Inflammation of the spinal cord c) Immune attacks on oligodendrocytes d) Genetic mutations in myelin genes

c

Which diagnostic test for multiple sclerosis involves recording electrical activity in response to visual stimuli?

a) Electroencephalogram (EEG) b) Magnetic resonance imaging (MRI) c) Visual Evoked Potential (VEP) d) Computed tomography (CT) scan

c

What is the characteristic feature of demyelinated neurons in multiple sclerosis?

a) Increased sodium channel density b) Decreased internodal spacing c) Large areas of axon with few sodium channels d) Overproduction of myelin by oligodendrocytes

c

What imaging technique is commonly used to reveal sclerotic plaques in the brain and spinal cord of multiple sclerosis patients?

a) Ultrasound b) Positron emission tomography (PET) c) Magnetic resonance imaging (MRI) d) X-ray

c

What is the suspected link between multiple sclerosis and vitamin D?

a) Increased vitamin D levels worsen MS symptoms

b) Decreased vitamin D levels reduce the risk of developing MS

c) Low levels of vitamin D are associated with an increased risk of MS

d) Vitamin D has no effect on the development or progression of MS

c

Which cells are attacked in Guillain-Barre Syndrome, leading to demyelination of peripheral nervous system neurons?

a) Oligodendrocytes b) Astrocytes c) Schwann cells d) Microglia

c

What are the primary symptoms of Guillain-Barre Syndrome?

a) Progressive weakness, numbness, and pain

b) Memory loss and cognitive decline

c) Visual disturbances and hearing loss

d) Respiratory difficulties and cardiac arrhythmias

a

Which of the following is NOT a diagnostic test for multiple sclerosis?

a) VEP b) MRI c) BMI d) Lumbar puncture

c

What syndrome is caused by mutation in sodium channel Na V1.1

a) Angelman syndrome b) Williams syndrome c) Prader-Willi syndrome d) Dravet syndrome

d

Which compound has been found to help alleviate symptoms of Dravet Syndrome in some cases?

a) Cannabidiol (CBD) b) Tetrahydrocannabinol (THC) c) Benzodiazepines d) Selective serotonin reuptake inhibitors (SSRIs)

a and b

Infection with what increases risk of guillain-barre syndrome?
a) Botulinium or cytomeglovirus b) HPV or Camplobacteria c)Influenza or HPV

d) Campylobactiera or cytomegalovirus

d

What is Dravets Syndrome?

a) Hypertension disorder b) Intelectual disability c) Neurodevelopmental disorder d) Childhood epilepsy

d

What is the primary cause of tetanus?

a) Virus b) Fungus c) Bacterium d) Parasite

c

How does tetanus bacteria affect the nervous system?

a) By attacking the myelin sheath b) By releasing toxins that destroy neurotransmitters c) By cleaving SNARE proteins in inhibitory neurons d) By directly damaging the blood-brain barrier

c

Where does tetanus bacteria primarily enter the body?

a) Bloodstream b) Skin c) Gastrointestinal tract d) Presynaptic nerve terminals in skeletal muscles

d

What is the consequence of tetanus bacteria destroying SNARE proteins?

a) Paralysis b) Uncontrollable spasms c) Loss of sensation d) Cognitive impairment

b

Which statement accurately describes the mechanism of tetanus toxin action?

a) It cleaves SNARE proteins in presynaptic nerve terminals in skeletal muscles.

b) It attacks the postsynaptic receptors, causing hyperactivity.

c) It enters the CNS and destroys SNARE proteins in inhibitory neurons.

d) It inhibits the release of acetylcholine at neuromuscular junctions.

c

What is the role of SNARE proteins in neuronal function?

a) They are neurotransmitters that facilitate signal transmission.

b) They maintain the integrity of the blood-brain barrier.

c) They allow binding of vesicles with presynaptic neuron membrane

d) They are enzymes involved in the synthesis of myelin.

c

Which of the following is a symptom of tetanus?

a) High fever

b) Muscle weakness

c) Uncontrollable muscle spasms

d) Loss of appetite

c

Which region of the body is primarily affected by tetanus toxin action?

a) Respiratory system b) Central nervous system c) Gastrointestinal tract d) Musculoskeletal system

d

Which pioneering researcher worked with non-verbal autistic children and first grouped and defined high-support needs autism?

a) Hans Asperger b) Leo Kanner c) Tony Attwood d) Temple Grandin

b

What is the primary diagnostic criterion for Autism Spectrum Disorder (ASD) according to the DSM-5?

a) Impaired motor skills b) Difficulties in social communication and interaction c) Obsessive-compulsive behaviors d) Inattention and hyperactivity

b

Which of the following is NOT a characteristic behavior associated with Autism Spectrum Disorder (ASD)?

a) Hyperactivity b) Insistence on sameness c) Highly focused interests d) Hypersensitivity to sensory input

a

What is the incidence rate of Autism Spectrum Disorder (ASD) according to the Autistic Society UK?

a) 1 in 36 b) Less than 1 in 100 c) More than 1 in 100 d) 1 in 5

c

What is the primary neurobiological change associated with anxiety in individuals with Autism Spectrum Disorder (ASD)?

a) Changes in amygdala function b) Changes in prefrontal cortex structure c) Reduction in brain volume d) Excess dopaminergic transmission

a

What treatment approach uses rewards and punishments to change behavior in individuals with Autism Spectrum Disorder (ASD)?

a) Occupational therapy b) ABA c) Speech and language therapy d) Selective dorsal rhizotomy

b

What percentage of children in the UK are diagnosed with Attention-Deficit/Hyperactivity Disorder (ADHD)?

a) 1% b) 5% c) 10.2% d) 50%

b

Which neurotransmitter is implicated in the pathophysiology of Tourette Syndrome (TS)?

a) Serotonin b) Dopamine c) Acetylcholine d) GABA

b

What do medications for ADHD work on?

a) Dopamine transporters and serotonin transporters b) Sodium ion channels c) Glutamate and serotnin transporters d) Dopamine and Adrenaline transporters

d

Which autoimmune condition affects nicotinic receptors in the muscle membrane?

a) Myasthenia gravis b) Multiple sclerosis c) Rheumatoid arthritis d) Lupus

a

What diagnostic test for myasthenia gravis involves administering a short-acting acetylcholinesterase to check for symptom improvement?

a) Electroencephalogram (EEG) b) Magnetic resonance imaging (MRI) c) Edrophonium test d) Electromyography (EMG)

c

Which symptom is often the first to be seen in myasthenia gravis and may be unaccompanied by pain?

a) Facial muscle weakness b) Muscle spasms c) Joint inflammation d) Sensory disturbances

a

What is the primary mechanism of action of acetylcholinesterase inhibitors in the treatment of myasthenia gravis?

a) Blocking the production of antibodies b) Increasing the concentration of acetylcholine in the synapse c) Increasing proliferation of receptors d) Preventing the internalization of nicotinic receptors

b

In more severe cases of myasthenia gravis, which treatment approach may be used to remove antibodies from circulation?

a) Chemotherapy b) Radiation therapy c) Immunotherapy d) Plasma therapy

d

Which gender is myasthenia gravis more common in?

a) Men b) Women c) Equally common in both genders d) Unrelated to gender

b

What diagnostic test for myasthenia gravis may show a slow decline in the size of action potentials following repeated muscle stimulation?

a) Electroencephalogram (EEG) b) Magnetic resonance imaging (MRI) c) Edrophonium test d) Electromyography (EMG)

d

How is animal models of myasthenia gravis typically induced for study?

a) By injecting purified nicotinic acetylcholine receptors from mice

b) By administering immunosuppressant drugs to animals

c) By injecting purified nicotinic acetylcholine receptors from torpedo fish

d) By exposing animals to high levels of acetylcholine

c

What effect does myasthenia gravis have on the end plate of muscle fibers?

a) It enhances end plate formation

b) It causes destruction and simplification

c) It induces muscle hypertrophy

d) It decreases the density of motor neurons

b

How do antibodies in myasthenia gravis effect receptors?

a) causes hyperphosphorylation and disruption of membrane

b) causes receptors to work in opposite direction

c) Destroys subunits of nAChRs and phopshorylates fragments

d) causes receptors to be internalised and blocks binding of ACh

d

Primary target for myasthenia gravis antibodies is

a) alpha 1 b) omega 2 c) beta 1 d) beta 2

a

What is the primary mechanism of action of Serin?

a) Enhancement of acetylcholine synthesis b) Inhibition of acetylcholine release c) Inhibition of acetylcholinesterase d) Activation of acetylcholine receptors

c

What are the common symptoms of Serin poisoning?

a) Increased heart rate and blood pressure b) Elevated body temperature and sweating c) Difficulty breathing, drooling, paralysis, and convulsions d) Blurred vision and dizziness

c

What is the consequence of Serin binding to acetylcholinesterase?

a) It enhances the enzyme's activity b) It prevents the enzyme from binding to acetylcholine c) It leads to recycling of the enzyme d) It inhibits the enzyme's ability to degrade acetylcholine

d

How does Serin affect the function of acetylcholine receptors?

a) It increases their sensitivity to acetylcholine b) It decreases their density on the postsynaptic membrane c) It induces desensitization, leading to continuous depolarization d) It blocks their binding sites, preventing acetylcholine from binding

c

What treatment can be administered to counteract the effects of Serin poisoning?

a) Atropine b) Naloxone c) Pralidoxime d) Benzodiazepines

c

Which amino acid residue of acetylcholinesterase does Serin bind to?

a) Glutamine b) Histidine c) Serine d) Glycine

c

How does Serin affect the recycling of acetylcholinesterase?

a) It enhances the enzyme's activity b) It blocks the enzyme's active site c) It prevents the enzyme from being recycled d) It promotes the enzyme's degradation

c

What is the primary target of Serin in the nervous system?

a) Glutamate receptors b) GABA receptors c) Acetylcholinesterase d) Dopamine receptors

c

Which type of dementia is developed after a stroke or other conditions that reduce circulation to the brain?

a) Alzheimer's disease b) Vascular dementia c) Frontotemporal dementia d) Lewy body dementia

b

Which type of dementia is characterized by the presence of intracellular neurofibrillary tangles and accumulation of beta-amyloid plaques?

a) Alzheimer's disease b) Vascular dementia c) Frontotemporal dementia d) Lewy body dementia

a

What term is used to describe a group of symptoms affecting memory, thinking, and social abilities?

a) Amnesia b) Epilepsy c) Dementia d) Stroke

c

What memory problem, usually caused by trauma, is characterised as difficulty learning new information?

a)Alzheimers

b)Retrograde Amnesia

c) Anterograde amnesia

d) Dementia

c

What happens in myostatin deficiences

a) Extra Muscle Mass

b) Muscle Weakness

c) Muscle spasms

d) Muscular Dystrophy

a

Duchenne Muscular Dystrophy causes:

a)Excess Muscle

b) Muscle Weakness

c) Death to muscle cells

d) No muscle cell synthesis

c

Muscular Dystrophy reduces muscle due to:

a) Prevents contraction, causing muscle to shrink from disuse

b) Skeletal fibres not linked to extracellular matrix, so excess calcium enters cells

c) Prevents contraction by inhibiting myosin ATPase activity

d) Increases the rate of action potentials

b

What causes inherited epilepsy:

a) Mutation in glutamate receptors- making them leaky

b) Mutation in calcium ion channels

c) Mutation in subunits of GABBA receptor

d) We dont know

c

What is the primary consequence of GRIN2B mutations?

a) Hypertension b) Seizures or Learning Disabilities c) Hypoexcitability leading to muscle weakness d) Loss of vision

b

Which subunit of the NMDA receptor is encoded by the GRIN2B gene?

a) NR1 b) NR2A c) NR2B d) NR3C

c

What is the characteristic feature of Myotonia Congenita?

a) Inability to contract muscles b) Inability to relax muscles after contraction c) Loss of muscle tone d) Muscle atrophy

b

What channelopathy is associated with Myotonia Congenita?

a) Sodium channelopathy b) Calcium channelopathy c) Potassium channelopathy d) Chloride channelopathy

d

What triggers Myotonia Congenita in animals like "fainting" goats?

a) High altitude b) Loud noises c) Startling stimuli d) Bright lights

c

What is the primary consequence of a mutation in the ryanodine receptor associated with Malignant Hyperthermia?

a) Increased body temperature b) Decreased muscle tone c) Muscle weakness d) hypotension

a

What is the typical outcome of Malignant Hyperthermia if left untreated?

a) Low blood pressure b) Muscle relaxation c) Fatal high blood potassium levels d) Decreased body temperature

c

Which of the following conditions is characterized by muscle rigidity and high fever?

a) Myotonia Congenita b) GRIN2B mutations c) Malignant Hyperthermia d) Myasthenia Gravis

c

What type of mutations in the GRIN2B gene can lead to seizures?

a) Gain of function b) Loss of function c) Both gain and loss of function d) Neither gain nor loss of function

a

Which of the following medications is NOT a stimulant commonly used in the treatment of ADHD?

A) Methylphenidate B) Lisdexamfetamine C) Atomoxetine D) Modafinil

c

ADHD medications primarily work by:

A) Increasing dopamine and noradrenaline levels in the brain B) Decreasing serotonin levels in the brain C) Inhibiting acetylcholine receptors D) Enhancing GABAergic neurotransmission

a

Which of the following is NOT a medication commonly used to treat ADHD? A) Methylphenidate B) Atomoxetine C) Sertraline D) Modafinil

c

Which brain regions are implicated in ADHD due to structural changes? A) Occipital lobe B) Prefrontal cortex and striatum C) Temporal lobe D) Cerebellum

b

Which of the following is a symptom of inattention in ADHD? A) Fidgeting or squirming B) Leaving seat inappropriately C) Difficulty organizing tasks D) Constantly "on the go"

c

Medical Model of disability

Impairment causes disability

Social Model of Disability

Society causes disability due to barriers it has it place