Paediatric Neurology - Neurodevelopmental Disabilities

ness37's version from 2018-04-29 16:57

Section 1

Question Answer
Cerebral Palsy definitionCondition that affects muscle control and movement caused by: infection in early part of pregnancy, lack of oxygen to brain, abnormal brain development or genetic link
Risk factors CPDifficulties at birth, multiple births, premature births
Types of CPSpastic, Dyskinetic, Ataxic and mixed and hemiplegia (one side of the body affected), diplegia (two limbs affected), monoplegia (one limb affected), quadriplegia (four limbs are affected)
Spastic CPMuscle tone is tight and stiff = reduced range of movement and can be painful as muscles can go into spasm
Dyskinetic CPCauses uncontrolled/involuntary, sustained/intermitted muscle contractions as the muscle tone changes from tight to loose. Speech and language can be affected too - difficulty controlling tongue, vocal cords and breathing
Ataxic CPInability to activate the correct pattern of muscles during movement. Balance and spatial awareness affected. Speech and language affected.
Mixed CPCombination of any of the types.
Associated difficulties CPSome people with CP may also have learning difficulty, epilepsy, hearing impairment, problems with sleeping, communication difficulties (speech is effortful as breath support is affected), feeding difficulties.
Feeding CPDifficulties may be due to structural abnormalities, psychological/behavioural conditions, motor or sensory impairment (e.g. reflux from eating = painful). Some babies may have difficulty sucking due to the demand of coordinating muscles. Babies with CP are typically weaned at the same time as typically developing children, may take longer but babies prefer it/thrive from it
MDT CPSLT (feeding safe and productive) Dietician (ensure hydration and nutrition) OT (looking at feeding equipment) Physiotherapist (feeding positions)
Alternative feeding methods CPSome children may fatigue throughout the meal causing them to gag or choke. The calorific value of food needs to be considered - special milks (due to more movements by child with CP) thickeners, modified diet, NG tube (short term) PEG (long term)
Aim of alternative feeding CPTo give the child adequate nutrition and hydration for bone and brain development
Videofluoroscopy CPX-ray procedure used to investigate safety of swallowing (checking for aspiration), track oral, pharyngeal and oesophageal stages of swallowing.
ASD definitionICF - included under 'persistent developmental disorders'. Spectrum disorder, share certain difficulties but affect children in different ways
ASD diagnosis The proportion of males with a diagnosis is far larger than it is for females. However, it is under-diagnosed in females
Triad of impairements ASDLorna Wing created it to explain what defines ASD - social impairment (may have no interest in social interaction and display little interest in other people), language and communication (limited expressive language and the meaning of language is taken literally) and rigidity of thought (repeat certain behaviours and develop obsessions)
Causes of ASDStill being investigated. Many experts believe it's to do with genetic factors, effect of environment. No link to MMR vaccine
Related difficulties ASD44%-52% may also have a learning disability. Heightened risk of epilepsy (20-40%)
ADHD definitionSymptoms must have been present for 6 months, they're having a negative impact on home and school life, has developed before 7 years of age and not caused by another condition (ASD, anxiety, personality)
Symptoms ADHDHyperactivity, impulsivity and inattention
Causes ADHDShown to run in families, being born prematurely, having a low birth weight, smoking, drinking, drug abuse during pregnancy
Speech and Language and interaction ADHDAttentional deficits, language delays, interaction problems, speech delays/disorders, stuttering/cluttering, conversational problems
Dyspraxia definitionCondition affecting physical coordination that causes a child to perform less well than expected in daily activities for the child's age and appear to move more clumsily. Not diagnosed until around 5 years +
Dyspraxia diagnosisThought to be 3-4 times more common in boys than girls
Related difficulties dyspraxiaComorbidities - ASD, ADHD and dyslexia
Risk factors dyspraxia Being born prematurely, having a low birth weight, family history of dyspraxia, alcohol and illegal drug abuse during pregnancy
Verbal dyspraxia definitonCondition where children have difficulty making and coordinating the precise movements needed to produce clear speech (no sign of damage to nerves or muscles). Find it difficult to produce individual speech sounds and to put sounds together in the right order = hard to understand, sound unusual and like a child much younger than them.
Verbal dyspraxia diagnosisSLT can identify it but paediatrician and/or OT will be involved in reaching a diagnosis. Look for: limited range of C's and V's, over use of one sound (favourite articulation), inconsistent production/ unusual error patterns, breakdown in the sequencing of sounds in words
Down Syndrome causePresence of an extra chromosome in a baby's cells (trisomy 21), not an inherited condition, link to advanced maternal age (but majority of babies with DS are born to young mothers - higher fertility)
Physical characteristics DSHypotonia (floppiness), small and flat nasal bridge, small mouth (tongue may stick out), a flat back of the head and below average weight + length at birth. Don't look the same, look like their siblings and parents.
Learning disability DSAll children will have some degree of LD, 1 in 10 will have a co-morbid condition (ASD/ADHD).
Hearing problems DSOften temporary, glue ear/infection but can sometimes be permanent (hearing aids)
Vision problems DSOften need to wear glasses but quality of vision is still impaired
Heart defects DS50% of all children with DS are born with a congenital heart defect (hole in the heart)
Gut problems DSConstipation, diarrhoea, and indigestion are all common. Serious conditions may include: small bowel obstruction, coeliac disease and reflux
Thyroid problems DS1 in 10 people with DS have problems with thyroid (controls metabolism)
Dementia DSPeople with DS tend to develop at a younger age (from 40 years)
DS testLooks for DS, Edward's and Pateu's (only the last two syndrome are life limiting)
Epilepsy definitionAffects the brain which means they will have seizures
Diagnosis Epilepsy If someone has had 2 or more seizures, likely to have more
Seizures EpilepsyHappens when there is a sudden, intense, burst of electrical activity in the brain which causes messages between cells to get mixed up
Naming seizures EpilepsyDr looks at where in the brain they started, level of awareness during them, whether it involves movement or not
Focal seizureStay fully aware, or have impaired awareness. Symptoms are either: motor onset or non-motor onset
Tonin-clonic seizureBoth sides of the brain affected (generalised onset). Two phases of seizure: tonic (lose consciousness, muscles stiffen, air pushed through voice box - sounds like crying, may bite down on tongue) and clonic (limbs jerk quickly and rhythmically, may lose control of bladder and bowels, might have difficulty breathing
Absence seizuresType of generalised seizure. Two types - typical (unconscious for a few seconds, suddenly stop what you are doing/appear to be day dreaming, eye lids may flutter) and atypical (last longer, start and end slower, might be able to move around, muscles go floppy, may be able to respond to someone during it)
Febrile seizuresNot epileptic seizures, triggered by high temperature, (usually linked to childhood illness e.g. tonsillitis) have high chance of developing epilepsy when they are older.
Non-epileptic eventsBreath holding, migraines, night terrors, tics/habit spasms. Parents may be asked to video 'epileptic' episodes to show GP in order to decide if they are seizures or not.
Syndromes associated with EpilepsyAngelman's and Rett's
Angelman'sGenetic disorder that affects the nervous system and causes severe physical/intellectual disability. Epileptic seizures will happen to 7 out of 10 children
Rett'sGenetic condition that affects girls far more than boys (if boys have it they are affected more severely). Typical development until 6 months and then development slows and skills are forgotten. Epilepsy occurs for 9 out of 10 children
Implications for speech and languageFrequent seizures can impair concentration which impacts on socialisation and learning, severe epilepsy can cause delays to speech and language development.
Treatment for EpilepsyMedication, vagus nerve stimulation (similar to pace maker, sits under skin, manually gives stimulation to the brain throughout the day). Ketogenic diet (high fat, low carb, low protein).

Section 2