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Paediatric Neurology
| Question | Answer |
|---|---|
| What is epilepsy? | Excessive and disorderly discharge of cerebral nervous tissue |
| What are recurrent seizures called? | Epilepsy |
| When is the onset of epilepsy? | First year of life |
| How do you diagnose epilepsy? | EEG and MRI |
| What 2 factors cause epilepsy? | Synaptogenesis and Maturanal Changes |
| What are the 2 types of epilepsy and what causes them? | Idiopathic - genetic mutations in ion channels and symptomatic - stroke, brain tumour and malformation of cortical development |
| What are the 2 forms of seizures and where do they affect? | General - bilaterally and partial - local onset |
| 3 features of tonic - clonic seizure (grand mal)? | tonic = Breathing suspended, clonic = jerks, no memory of seizure |
| 2 features of Absence petit mal? | Childhood and they dont fall |
| 2 features of Lennox Gastaut? | Difficult to treat and falling attack |
| When does febrile seizures occur? | When there is an increase in temperature |
| Where are upper and lower motor neurones? | Upper motor neurones = brain and lower motor neurones = brainstem and spinal cord |
| What happens if there is a disruption between UMN and LMN? | Become stiff and slow |
| What happens if there is a disruption between UMN and muscles? | Weak muscles and twitching |
| What do you get if the UMN are affected? What does that mean? | Spastic paralysis = Spastic movements |
| What do you get if the LMN are affected? What does that mean? | Flacid paralysis = muscle atrophy |
| What is Cerebral Palsy? | UMN lesions around the time of birth |
| What is the pyrimidal tract? | Group of fibres that travel from the UMN down to the LMn |
| What are the 2 groups of the pyrimidal tract and where do they synapse? | Corticobulbar = synapse cranial nerves Corticospinal = synapse spinal nerves |
| What do you call a bundle of axons? | Nerves |
| What is a nerve cell and what does it do? | Neurone - transmits electrical impulses |
| What are motorneurones and where do they transmit to? | Neurones in the CNS and transmit information to muscles and glands |
| Spinal nerves innervate.....? | the opposite tract |
| Cranial nerves innervate.....? | both tracts |
| A positive lesion in the motor pathway is when what? | There is increased frequency of muscle activity |
| A negative lesion in the motor pathway is when what? | There is insufficient muscle activity |
| What is the basal ganglia used for? | Motivation |
| What is the cerebellum used for? | Timing and coordination of movements |
| A simple seizure is when the patient is....? | Conscious |
| A complex seizure is when the patient is....? | Unconscious |
| 2 features of Infantile Spasm? | Onset before 18 months and mental retardation |
| What is meningitis? | Inflammation of the meninges |
| What is encephalitis? | Inflammation of the brain tissue |
| What is the onset for neonatal seizures? | First 28 weeks of life |
| What is the ages between which Juvenile Myoclonic is common and which gender does it affect mostly? | 8 - 26 years and females |
| What does procrine mean? | They can sense a seizure coming on before it even does |
| Atonic mean what? | When they just fall |
| Infantile Spasms have 2 names, what are they? | West syndrome and Salaam |
| What increases the risk of a child having cerebral palsy? | Early birth |
| What is the term for the time around the birth? | Perinatal |
| Name the 5 types of cerebral palsy. | Spastic Hemiplegia Spastic Diplegia Ataxic Atheroid/Dyskinetic Spastic Quadriplegia |
| What do you call the chromosomes that are not sex chromosomes? | Autosomal |
| Where do you find chromosomes? | In the cell nucleus |
| What do DNA make up? | Chromosomes |
| What are genes? What makes each gene different? | Sections of DNA. The bases. |
| What 2 things do genes go through to become a protein? What is involved at each stage? | Transcription and Translation Transcription - converts DNA into RNA Translation - RNA is read and coded into amino acids - the building blocks of protein |
| Spinal Muscle Atrophy (SMA) is also called? | Werdnig - Hoffman |
| What is SMA and what is the most common type? | Degeneration of anterior horn cells in the spinal cord and LMN. Type 1. |
| Give 3 features of SMA. | Autosomal Recessive Floppy Baby Legs in a frog position |
| Charcot Marie tooth is a genetic form of what? | Chronic polyneuropathy |
| What is chronic polyneuropathy? | Slow nerve conduction in motor nerves |
| Charcot Marie tooth has 3 types; 1 & 2 are autosomal ........? 3 is autosomal ........? | Dominant Recessive |
| Charcot Marie tooth type 1 causes what? | Demylination |
| Charcot Marie tooth type 2 causes what? | Axonal damage |
| Charcot Marie tooth type 3 is also called what? | Dejerine-Sottas |
| What does parasthesis mean? | Pins and needles |
| Skeletal muscles are also called what? | Striated muscles |
| What are muscular dystrophies? | Progressive hereditary degenerative diseases of skeletal muscle |
| What type of weakness and atrophy do muscular dystrophies cause? | Symmetrical weakness and atrophy |
| Name the 5 types of muscular dystrophies. | Duchenne Becker Facioscopulohumeral Myotonic Limb Gridle |
| Which 2 muscular dystrophies predominantly affect males and are x linked recessive? | Beckers and Duchenne |
| What is the cause of Duchenne? | Lack of dystrophin |
| What is the cause of Becker? | Short dystrophin |
| Out of Becker and Duchenne, which condition is the heart affected in? | Duchenne |
| Facioscopulohumeralis is autosomal ......? Which chromosome is affected? | Dominant. 4 |
| Limb Gridle Type 1 is autosomal ......? Limb Gridle Type 1 is autosomal ......? | Dominant Recessive |
| When does Limb gridle become more benign? | The later the onset |
| Neimann Pick and Tay Sachs are common in which religious sect? | Jewish |
| What ocular signs do patients with Neimann Pick present with? | Blindness and nystagmus |
| Phenylketonuria is autosomal ......? | Rescessive |
| What is Phenylketonuria? | Inability to properly break down phenylalanine |
| What 3 characteristics are common in patients with phenylketonuria? | Fair skin Blue eyes Eczema |
| What is dystonia? | Muscle contraction causing twisty postures |
| What is another word for the manner of walking? | Gait |
| What is the geneome? | Whole of the hereditary matter |
| How many chromosomes do you inherit all together? | 46 |
| How many genes does it take to cause a disease if it is dominant? | 1 |
| How many genes does it take to cause a disease if it is recessive? | 2 |
| What are the first signs as a baby that they have inherited a metabolic disease? | Difficulty feeding |
| Leukodystrophies is a what kind of disease? What does this mean? | Lysosomal Storage disease - Substances are not broken down |
| What are the three types of Leukodystrophies? | Tay Sachs Infantile Gaucher Infantile Nieman - Pick |
| What happens to the white matter in Leukodystrophies? | The white matter is destroyed |
| Tay sachs and Gaucher are autosomal ..........? | recessive |
| What happens to the ehad size is Tay sachs? | It increases |
| What is the onset and occurrence in Gaucher? | Before 6 months and loss of nerve cells |
| What is Ataxia? | Poor co - ordination |
| What is Athetosis? | Slow writhing movement |
| What is Chorea? | Rapid involuntary movement |
| What is Clonus? | Rhythmic contraction and relaxation |
| What is Myoclonus? | Irregular shock contractions |
| What is Dystonia? | Abnormal tone resulting in sustained contraction |
| What is Spasticity? | Increased tone of a muscle |
| What is Tone? | Residual muscle tension |
| What is a Central abscess? | Infection in the brain paranchyma |
| What is Paranchyma? | Functional tissue of an organ |
| Name 3 things that can cause meningitis? | Group B Streptococus E coli Strep Pneumonae |
| What are the 3 symptoms of meningitis? | Floppy Baby Temperature can be high or low Non blanching rash |
| If you put a glass over a non blanching rash what happens? | The rash doesn't dissapear |
| What is septicaemia? What is the prognosis like ? | When meningitis enters the blood stream. Poor. |
| What do you look at when you do a lumbur puncture? | CSF |
| What would indiacte during a lumbur puncture that it is meningitis? | Increased number of white cells |
| During a lumbur puncture what would suggest it is viral and what would suggest it is bacterial? | Viral = lymphocytes Bacterial = Polymorphanuclear Leukocytes |
| Which cranial nerves are commonly affected with meningitis? | 3rd and 6th |
| Name 3 symptoms of a central abscess? | Headaches Vomiting Seizures |
| How would you treat a central abscess? | Antibiotics |
| Is encephalitis usually bacterial or viral? | Viral |
| Name 3 symptoms of encephalitis? | Drowsy Off food Short term memory loss |
| How would you treat encephalitis? | Aciclour |
| What is Aphasia? | Problems with speech and writing |
| A person with ADHD has a problem with what? | Attention |
| A person with Dyslexia has a problem with what? | Reading |
| A person with Dyscalculia has a problem with what? | Numeracy |
| A person with Autism has a problem with what? | Social Understanding |
| A person with Aspergers has a problem with what? | Attention and clumsiness |
| A person with Fragile X has a problem with what? | Visual motor skills and numbers |
| A person with Down Syndrome has a problem with what? | Memory and Launguage |
| A person with Williams Syndrome has a problem with what? | Spatial Reasoning |
| SMA is the result of a mutation of the spinal motor neurone gene on which chromosome? | 5 |
Created by:
Ellisha1992
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