Disability
1. Intro to Disability
2. Anatomy of Speech
3. Rehabilitation
4. Hearing
5. Hearing Loss
7. Aphasia
8. Disability & Equality
9. Cerebral Palsy
10. Literature Searching on Disability
11. Neurological Deficit in Spinal Cord Injury
12. Cerebral Injury
13. Spinal Injury
14. Living with a Disability
15. Intellectual Disability
16. Spinal Injury & Autonomic Dysfunction
17. Dysphagia
18. Impact of Disability on Families & Carers
John Gannon, UCD
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1. Intro to Disability
What is Disability?
• WHO 1980: "any restrictions or lack of ability to perform an activity in the manner or within the range
considered normal for a human being"
• US Social Security Administration 2001: " the inability to engage in any substantial, gainful employment by
reasons of any medically determinable physical or mental impairments"
1 billion people have a disability (15% of the world's population)
Historical & Social Models of Disability
• moral model: the result of sin
• medical model: a defect or sickness which must be cured through medical intervention
• rehabilitation model: a deficiency that must be fixed by a rehab or other helping professional
• disability model: "a dominating attitude by professionals and others, inadequate support services when
compared with society generally, as well as attitudinal, architectural, sensory, cognitive, and economic
barriers, and the strong tendency for people to generalize about all persons with disabilities overlooking the
large variations within the disability community"
Public Perception
Socio-cultural issues
• families may "hide" disabled members due to social stigma
• a major barrier for integration in society for disabled people comes from impediments to infrastructure are
accessibility to education, healthcare & work
• the brave person w/ disability overcoming obstacles is praised, and the question of why obstacles exist in the
first place is ignored
World Report on Disability 2012
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International Classification of Impairments, Disabilities & Handicaps (ICIDH) introduced 1980
International Classification of Functioning, Disability & Health (ICF)
ICF: Aims
• provide a scientific basis for consequences of health conditions
• establish a common language to improve communications
• permit comparison of data across countries, health care disciplines, services & time
• to provide a systematic coding scheme for health information systems
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activity limitations are difficulties in executing activities
participation restrictions are problems in involvement in life situations
environmental factors make up the physical, social and attitudinal environment of people's lives
Legislation
• Disability Act 2005
○ independent assessment of individual needs
○ access to public buildings, services & info
○ sectoral plans
○ obligation on public bodies to be proactive in employing ppl. w/ disabilities
○ restrictions in use of material for genetic testing for employment, mortgage & insurance purposes
○ Centre for Excellence in Universal Design
• UN Convention on disability (signed but not ratified)
○ "promote, protect and ensure the full and equal enjoyment of all human rights and fundamental freedoms
by all persons with disabilities, and to promote respect for their inherent dignity"
○ calls for: “… appropriate measures, including through peer support, to enable persons with disabilities to
attain and maintain their maximum independence, full physical, mental, social and vocational ability, and
full inclusion and participation in all aspects of life”
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Epidemiology
• 300,000 disabled adults in Ireland
• 16% have severe disability
• 45% are >60yrs
40% of significant disability, 20% of hospital admissions & 1/7 of GP visits due to chronic neurological disorders
incidence: number of new cases in a year
prevalence: number of people currently affected
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Sources of data on people w/ disabilities
1. Census of Population, 2006
2. European Community Hospital Panel (ECHP) Survey
3. Quarterly National Household Survey (QNHS)
4. National Disability Survey (NDS)
The BIG THREE
1. Impairment
2. Activity/Disability
3. Participation/Handicap
e.g. how does a person w/ impaired mobility get up the stairs?
1. impairment - definitive treatment
2. activity - address disability e.g. stair practice
3. participation - provide equipment e.g. stair lift
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2. Anatomy of Speech
The Larynx
aka voice box
connects pharynx to trachea
functions to protect airways and to produce speech
includes epiglottis (which prevents food entering the trachea in swallowing)
larger in men than women (Adam's apple = laryngeal prominence)
3 functions of larynx
• completely open: allows breathing
• partially open: facilitates phonation
• completely closed: protects respiratory system
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composed of 6 cartilages
unpaired
thyroid
cricoid
epiglottic
paired
arytenoid
corniculate
cuneiform
2 main joints (both synovial)
• cricothyroid joint
○ synovial joint
○ axis passes transversely thru joints
○ posterior: recurrent laryngeal nerve
• cricoarytenoid joint
○ allows rotation & gliding
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LARYNX MUSCLES
Intrinsics
for respiratory & phonation function
• Cricothyroid - lengthen and tense the vocal folds
○ origin: cricoid, insertion: inf. horn of thryoid cart.
• Posterior cricoarytenoid - abduct & externally rotate arytenoid cartilages, resulting in abducted vocal folds
○ this is the only one that separates the vocal cords for normal breathing, bilateral injury (e.g. lesion to RLN)
would cause difficulty breathing
○ origin: cricoid lamina, insertion: arytenoid muscular processes of arytenoid carts.
• Lateral cricoarytenoid - adduct & internally rotate arytenoid cartilages, increase medial compression
○ origin: upper cricoid cartilage, insertion: muscular process of arytenoid cart.
• Transverse arytenoid - adduct arytenoid cartilages, resulting in adducted vocal folds
• Oblique arytenoid - narrow laryngeal inlet by constricting the distance b/w arytenoid cartilages
• Thyroarytenoid - sphincter of vestibule, narrowing laryngeal inlet, shortening vocal folds, & lowering voice
pitch, the internal thyroarytenoid vibrates to produce sound
the vocalis is a triangular band made up of the lower, deeper fibres of this muscle
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○ the vocalis is a triangular band made up of the lower, deeper fibres of this muscle
Extrinsics
support & position the larynx w/in the trachea
depress the larynx:
• Sternothyroid
• Omohyoid
• Sternohyoid
elevate the larynx:
• Thyrohyoid
• Digastric
• Stylohyoid
• Mylohyoid
• Geniohyoid
• Hyoglossus
• Genioglossus
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vocal folds
vibrate to modulate the flow of air expelled from the lungs during phonation
innervated by vagus (CN X)
• true vocal folds are what we think of normally as vocal cords, they are quite delicate and involved in producing
virtually all phonation
• false aka vestibular folds are superior and lateral to true folds, they mainly provide protection and are rarely
used in phonation e.g. in weird Tibetan chants and shit
the space b/w the vocal cords is called the rima glottidis
membranes & ligaments
• thyrohyoid memb.
○ median thyrohyoid lig.
○ lat. thyrohyoid lig.
○ pierced by inf. laryngeal nerve (ILN) & sup. laryngeal vessels
• cricotracheal lig.
• fibroelastic memb.
○ quadrangular memb. - epiglottis to arytenoids
vestibular ligs. - lower quad memb.
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○ vestibular ligs. - lower quad memb.
○ cricothyroid lig. - median for emergency airway, upper lat. margin is thick and forms vocal ligs.
laryngeal inlet
faces posterosuperiorly
boundaries
• anterior: epiglottis
• lateral: aryepiglottic fold
• posteroinferior
○ mucous memb. b/w arytenoids
○ corniculate & cuneiform cartilages - small elevations
vestibule - from inlet to vestibular folds
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LARYNX: Blood, Nerves, Lymph
BS: sup. thyroid artery (upper 1/2)
inf. thyroid artery (lower 1/2)
NS: sensory
○ above vocal folds: int. laryngeal n. (branch of sup. laryngeal)
○ below vocal folds: recurrent laryngeal n.
motor
○ intrinsics: RLN except cricothyroid (ext. laryngeal n.)
○ extrinsics: different for each one, might just not learn that
LS: deep cervical nodes (DCN)
Phonation
sounds are produced by air blowing past the vocal cords
the air produces vibrations in the cords which forms the sounds that come out of the mouth
the diaphragm, intercostal muscles & abdominal walls cause the lungs to push out the air
tonal & pitch variations occur by altering the shape of the cords (intrinsic muscles)
• tense cords = higher pitch
• loose cords = lower pitch
average frequency of speech
• adult male 110Hz
• adult female 225Hz
loudness (intensity)
• more adducted vocal folds (intrinsic muscles) means more subglottal air is required to blow past them
• this causes greater intensity
the nasal cavity
• usually in phonation the soft palate (velum) is raised to close off the nasal cavity
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• usually in phonation the soft palate (velum) is raised to close off the nasal cavity
• exceptions: nasal sounds /m/, /n/, /ng/
• hypernasality = excessive, denasality = insufficient
articulators - moveable/immobile structures which produce the sounds in speech
• lips
• jaw (mandible)
• tongue
• pharyngeal walls
• soft palate
• teeth
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3. Rehabilitation
Rehab in Ireland
In USA & UK, rehab starts w/in 24hrs
Ireland are a lot slower - some perceive rehab as a luxury but it is essential for recovery
Internationally we are way down on the scale of rehab workers per capita
we have we should have
beds
110
254
consultants 6
27
The National Rehabilitation Hospital generally focuses on pts. <65yrs b/c older pts. fall under geriatric care
The Donabedian Model is a conceptual model that examines health services & evaluates quality of care
Botulinum toxin
it is the most acutely lethal toxin known to man but…
it is v. effective at managing spasticity in pts. b/c it inhibits ACh firing and paralyses the hyperactive muscle
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4. Hearing
Cochlear analysis of sound
1. loudness
○ measured using the deciBel scale [deciBel = log(Intensity/10 -12)]
○ analysis of impulses along the cochlear nerve
2. pitch
○ a normal adult can hear in the range of 20 - 20,000 Hz
○ the human ear is particularly suited to b/w 2000-3000 Hz
○ human speech adapted to fit into this range
○ analysis of position of the sound along the basilar membrane
3. sound location
○ analysis of inter-aural time differences & inter-aural intensity differences
the auditory ossicles (malleus, incus & stapes) are the 3 smallest bones in the body, and you would be completely
deaf w/o them
The Cochlea
the auditory portion of the inner ear
located in the bony labyrinth
it is spiral-shaped, completing 2.5 turns about its central axis, the modiolus
the spiral shape enhances its ability to detect low frequency sounds
waves in the cochlea propagate from the base to the apex
the apex is better for low frequency, base is better for high frequency
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3 chambers (scalae)
• vestibular canal aka scala vestibuli (contains perilymph)
• tympanic canal aka scala tympani (contains perilymph)
• cochlear duct aka scala media (contains endolymph)
Reissner's membrane separates the vestibula canal from the cochlear duct
the basilar membrane separates the tympanic canal from the cochlear duct and determines the mechanical wave
propagation properties of the cochlear partition
the Organ of Corti is a layer of sensory epithelium on the basilar memb. in which hair cells move according to the
potential difference b/w perilymph & endolymph is the sensory organ of hearing
hair cells are the sensory cells in the Organ of Corti and are topped w/ stereocilia
the cochlea receives sound in the form of vibrations, which cause depolarization/hyperpolarization of potassium
ion channels, which cause stereocilia to move
this movement is converted into nerve impulses which are sent to the brain via the vestibulocochlear nerve (CN
VIII)
inner hair cells are for sensation, while outer hair cells are primarily motor (inhibitory) - they produce sound by
reverse transduction i.e. auto-acoustic echoes (this can be used to test for child deafness)
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muscles of the tympanic cavity: tensor tympani & stapedius muscles
• dampen the sound waves produced by our mouth (e.g. speaking, chewing) so that we don't hear ourselves as
much
• protect against v. loud sounds
hyperacusis: over-sensitivity to certain volumes & frequencies, can be consequence of damage to these muscles
Detecting the location of sound
1. measure intensity at each ear, look for inter-aural intensity difference
2. measure the time diff. b/w each ear picking up the sound, look for inter-aural time difference
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these 2 measurements can be used to estimate the location of a source of a sound wave
an acoustic shadow is an area through which sound waves fail to propagate
an azimuth is angular measurement in a spherical coordinate system
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5. Hearing Loss
Hearing loss or deafness may be congenital or acquired
This distinction only refers to the time of onset, it does not specify whether or not the cause is genetic
for example:
genetic
non-genetic
congenital
Waardenburg Syn.
teratogenesis due to maternal rubella virus infection
acquired
delayed-onset
ear damage due to loud noise
Hearing loss can be classified based on which portions of the auditory system are affected.
1. Conductive deafness: transmitting sound waves to the nerves
2. Sensorineural deafness: nervous system
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1. Conductive Hearing Loss
occurs where there is a problem conducting sound waves anywhere along the route through the outer ear,
tympanic membrane (eardrum) or middle ear (ossicles)
causes
external ear
• cerumen (earwax)
• otitis externa (infection of external ear)
• foreign body in external auditory canal
• exostosis (formation of new bone on the surface of a bone)
• tumour of ear canal
• choanal atresia (congenital disorder involving blockage of the back of the nasal passage aka choana)
tympanic membrane
• perforation
• retraction
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• retraction
• membrane tension due to difference in pressure b/w external & middle ear e.g. in altitude shift
middle ear
• fluid accumulation
• acute otitis media
• serous otitis media
• cholesteatoma (destructive & expanding growth of keratinizing squamous epithelium in the middle ear and/or
mastoid process)
• otosclerosis (abnormal growth of bone near the middle ear, preventing ossicles from vibrating normally)
• middle ear tumour
• temporal bone trauma
normal audiogram vs. otosclerosis
the dramatic deficiency around 2kHz (termed Cahart's notch) is characteristic of otosclerosis
2. Sensorineural Hearing Loss
occurs where there is damage to the inner ear receptors (hair cells), cochlear nerve or auditory pathways in the
brain
causes
• exposure to loud noise
• head trauma
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• head trauma
• ototoxic drugs e.g. aminoglycosides (e.g. tobramycin), loop diuretics (e.g. furosemide), antimetabolites (e.g.
methotrexate) , salicylates (e.g. aspirin)
• virus or disease e.g. HIV
• autoimmune inner ear disease
• inner ear malformation
• Meniere’s Disease aka endolymphatic hydrops (excess inner ear fluid)
• tumours
• nerve injury from syphilis
• Waardenburg syndrome
• Pendred's syndrome (hereditary deafness & goitre)
Presbycusis the cumulative age-related effect on hearing
it is a progressive bilateral symmetrical sensorineural hearing loss
Tests for hearing loss
screening in the very young
• auditory evoked otoacoustic emissions
• auditory evoked brainstem potentials
a) Whisper test (does not differentiate b/w CD & SD)
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a) Whisper test (does not differentiate b/w CD & SD)
• ask subject to block one ear canal while you whisper in the other
b) Rinne test (does differentiate b/w CD & SD)
compares perception of sounds transmitted by air conduction to bone conduction (thru mastoid)
in a normal ear, AC is better than BC
• strike tuning fork and place tip of handle on mastoid process to test for BC hearing
• when subject can no longer hear sound, note time and move vibrating ends of fork to w/in 3cm of external ear
canal to test AC hearing
• note time when sound can no longer be heard
• AC time should be about twice BC time
• low AC time = conductive hearing loss, low BC time = sensorineural hearing loss
c) Weber test
can detect unilateral conductive/sensorineural hearing loss
• strike tuning fork and place tip of handle on the middle of the top of the subject's head
• sound will be heard equally if both ears are normal
• if there is unilateral nerve damage, the subject will hear better w/ the unaffected ear
• but if there is unilateral damage to the outer or middle ear, the subject will hear better w/ the affected ear, b/c
the tuning fork sound will travel via bone conduction and background sounds from the environment will not
interfere via air conduction
TREATMENT OF HEARING LOSS
conductive hearing loss is often temporary and treatable e.g.
• cerumen - removal by drops/syringe/suction
• bacterial infection - ABs
• fluid accumulation - surgical drainage
• perforated eardrum, excess bone growth - surgical repair
sensorineural hearing loss is often permanent and untreatable b/c hair cells in the inner ear cannot be repaired or
replaced
some options include:
• hearing aids
• cochlear implants
• auditory brainstem implants
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7. Aphasia
communication = exchange of information/feelings/wishes
• main channels are speech, reading, writing
• messages are conveyed verbally & non-verbally
language = a symbol system used to communicate
• the words we speak, read & write are symbols
speech = the production of sounds that make up words & sentences
• highly complex - involves the rapid coordinated movement of lips, tongue, soft palate, vocal cords & breathing
Aphasia/Dysphasia
• communication disability which occurs when the language centres in the brain are damaged
• the person loses the ability to use & understand language
• does not affect intelligence - however it is hard to convey this to others w/o language & they may assume the
person is mentally ill or has a learning disability
• aphasia varies in severity, usually where the 4 modalities (speaking, understanding, reading, writing) are
affected to different degrees
sidenote: technically, aphasia means complete loss of communication, and dysphasia is a degree of loss - the
words are realistically used interchangeably
Dysphasia often confused w/ Dysphagia (swallowing disability)
Causes of Aphasia
• any condition or injury causing structural damage to language areas or tracts in the brain
• type & severity varies w/ site & size of lesion
• usually caused by stroke
• other causes include
○ subarachnoid haemorrhage
○ traumatic brain injury
○ multiple sclerosis
○ encephalitis
○ cerebral tumour
○ neurosurgery
other neurological condition
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○ other neurological condition
Prevalence of Aphasia
10,000 people have a stroke in Ireland every year
1/3 of survivors have communication disability
aphasia is as common as Parkinson's or MS, but most people have never heard of it
The Aphasia Alliance surveyed 1000 ppl. in the UK and 90% had not heard of aphasia
Stroke: 3 most common communication difficulties
• Dysphasia: disorder of language processing due to neurological impairment
• Dyspraxia: disorder of speech motor-programming
• Dysarthria: disorder of speech production due to neuromuscular impairment
SPEECH & CORTICAL LANGUAGE CENTRES
in most people (95%) language & sign language depends on the left hemisphere
especially right-handers, but still 70% of left-handers have it in the LH - L for language, L for left
this is why many aphasia pts. also have sensorimotor deficit on their right side
2 specific regions identified in the cortical language network
• Broca's Area (45,44): you drink a Berocca before taking a 45 in football
• Wernicke's Area (22): Vern Cotter and the Scottish team take 22s in rugby
Broca's is the motor speech area that helps in movements for producing speech
Wernicke's is the sensory speech area that helps in understanding speech
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Wernicke's is the sensory speech area that helps in understanding speech
The arcuate fasciculus is a bundle of nerves connects the two - American Football is a hybrid b/w rugby & GAA
the AF is used in deaf people who use sign language
TYPES OF APHASIA
Broca's (expressive) aphasia: you know what to say but you can't physically say it - Broca's broken speech
• speech is slow, deliberate and grammatically flawed
• can typically understand simple sentences but have difficulty w/ complex grammar (written & oral)
Wernicke's (receptive) aphasia: major impairment of language comprehension - Wernicke's word salad
• no difficulty producing fluent speech
• usually normal structure & syntax
• however, random words will appear or be missing rendering speech incoherent
• often will talk excessively
Anomic aphasia = difficulty recalling words & names
Conduction aphasia
• damage to structures interacting w/ language areas e.g. articulate fasciculus
• they understand what's being said but they can't repeat it
Global aphasia = complete loss of language
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Clean diagnosis is rare - pts. usually have a combo of deficits that don't fit exactly into one of the categories above
Detecting Symptoms
• begin w/ simple social convo
• observe responses carefully
• try more complex questions/instructions
• ask pt. to write things
• if suspected dysphasia refer to Speech & Language Therapist (SLT)
complicating factors of aphasia
• Other communication impairments
• Cognitive Impairments
• Perceptual Difficulties
• Fatigue
• Physical Disabilities
• Other Medical Conditions
• Social & personal circumstances
The WHO ICF (International Classification of Functioning, Disability and Health) Framework
1. Impairment - abnormality of function
2. Activities - functional consequences
3. Participation - social consequences
How aphasia affects lives
• hidden - may be no outward sign of disability
• may be unable to show that intelligence & personality are preserved
• may affect all areas of life
• daily activities may be difficult or impossible
What can you do? - facilitating communication
• two-way process, responsibility lies w/ both parties
• takes skill on the part of the pt. & the doc, as well as materials & resources
• acknowledge underlying competence - "I know that you know what you're trying to say"
• communication ramps/strategies to enable pts/to access conversation
• avoid using language that is too fast, complex or abstract to be understood
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•
•
•
•
•
•
avoid using language that is too fast, complex or abstract to be understood
change in attitude & style to taking a history - closed questions may be preferable to open questions here
patience & tolerance
pen & paper
encourage any form of response
ask questions to ensure pt. understands
RECOVERY
gradual process
no one can predict how much recovery will be made from aphasia or at what rate
complete recovery is unlikely if symptoms persist for 3 months
however some ppl. continue to improve over a period of years/decades
multifactorial - nature of brain injury, age, support system, therapy, motivation
optimism & patience are key
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8. Disability & Equality
almost everyone will be at least temporarily impaired at some point in their lives
Prevalence of Disability (estimates)
15% of world population, 1 billion people
growing numbers
higher risk with age
disproportionately affects vulnerable populations e.g. lower income, women, older people
Ageing & Disability
split into 2 distinct groups
• people who acquire a disability in older age
• people who acquire a disability at a young age and grow old with it
commonplace use of negative/pejorative language e.g. step down facilities, bed-blockers - ageism
International Classification of Functioning Disability & Health (ICF), WHO 2002
integrated biopsychosocial model of human functioning & disability
incorporates:
• impairment at body level
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•
•
•
•
impairment at body level
personal level activity limitations
societal level restrictions of participation
assessing the social & built environment
Disability becomes a Human Rights Issue when people with disability are:
• denied access to healthcare, employment, education & political participation
• subject to violation of dignity i.e. violence, prejudice, disrespect
• denied autonomy i.e. illegally sterilised, confined to institutions, regarded as legally incompetent
UN Convention on the Rights of People with Disabilities (UN CRPD), 2006
8 principles outlining civil, cultural, political, social & economic rights
“Promote, protect and ensure the full and equal enjoyment of all human rights and fundamental freedoms by
people with disabilities and promote respect for their inherent dignity”
signed but not yet ratified in Ireland
will be ratified when the 2013 Capacity Bill is made into law
The Disability Federation of Ireland (DFI) comprises 129 member organisations
they have proposed that Advance Healthcare Directives (AHDs) be incorporated into the 2013 Capacity Bill
aims to enable people to express preferences and plan for future care
WHO World Report on Disability, 2011
disability may increase the risk of poverty
poverty may increase the risk of disability
WHO recommendations
1. enable access to all mainstream policies, systems & services
2. invest in specific programmes & services e.g. rehab
3. adopt a national disability strategy & plan of action
4. involve people with disabilities in supported decision making
5. improve human resource capacity - training in disability incorporating human rights principles
6. provide adequate funding & improve affordability
7. increase public awareness & understanding of disability e.g. inclusive schools
8. improve disability data collection
9. strengthen & support research on disability
European Disability Strategy 2010-2020
"as full citizens, people with disabilities have equal rights and are entitled to dignity, equal treatment,
independent living & full participation in society"
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independent living & full participation in society"
8 key areas: accessibility, participation, equality, employment, education/training, social protection, health &
external action
IRELAND: NATIONAL SOCIAL POLICY
National Disability Strategy 2004
Ten Year Framework Social Partnership Agreement 2006-2015
National Action Plan for Social Inclusion 2007-2016
National Policy & Strategy for the Provision of Neuro rehabilitation services in Ireland 2011-2015
National Housing Strategy for People with a Disability 2011-2016
IRELAND: NATIONAL LEGISLATION
Employment Equality Acts 1998 & 2004
Equal Status Acts 2000 & 2004
National Disability Authority Act 1999
Education for Persons with Special Needs 2004
Disability Act 2005 (lecture 1)
Citizens Information Act 2007
Health Act 2007
Carers in Ireland
190,000 providing unpaid care
2 million hours of care provided by children <14yrs in 2011
• Carer's Allowance established 1990
• Carer's Benefit 2000
• Carer's Leave Act 2001 (up to 2yrs leave from employment)
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9. Cerebral Palsy
Cerebral palsy (CP) is an umbrella term encompassing a group of non-progressive, non-contagious motor
conditions that cause physical disability in human development, chiefly in the body movement
not included:
• conditions due to progressive disease
• conditions due to brain degeneration
• disorders of muscle control that arise in the muscles themselves or in the PNS
cerebral refers to the cerebrum
palsy means paralysis (loss of movement), paresis (partial loss of movement) or dyskinesia (impaired voluntary
muscle movement)
symptoms of CP and their severity are variable, including:
• muscle tightness or spasm
• involuntary movement
• disturbance in gait/motility
• abnormal sensation & perception
• impaired sight, hearing or speech
• seizures
• mental retardation
• ataxia
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CP: Types
• spastic - stiff & difficult movement
• athetoid - involuntary & uncontrolled movement
• ataxic - loss of coordination
• mixed
spastic & mixed are the most common
all children w/ CP have damage to the area of the brain that controls muscle tone, they may have hypertonia,
hypotonia, or both (fluctuating tone)
Spastic type
spasticity (↑ muscle tone) is the most common presentation of CP
assoc. w/ hyper reflexes which occurs b/c of decreased inhibition of the corticospinal tracts
2 main joints tested for reflexes - knee & ankle
effects of spasticity on bones
• decreases muscle fibre length & muscle volume
• most common effects: dislocated hips, scoliosis, foot/knee deformities
• immobility causes poor bone development & osteoporosis b/c mechanical stress is essential for bone growth
& turnover
• pts. w/ spasticity may fracture bones w/ minimal trauma
Aetiology
factors attributed to CP divided into
• prenatal
• neonatal (birth to 1 month)
• postnatal
prenatal
CP is one of the most common congenital disorders of childhood - due to brain hypoxia
nuchal cord - the umbilical cord wraps around the fetal neck, sometimes causing hypoxia
neural tube defects (e.g. encephalocele, spina bifida) may be caused by folate deficiency
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neural tube defects (e.g. encephalocele, spina bifida) may be caused by folate deficiency
• in other countries, bread and some foods are supplemented w/ folate but not Ireland
fetal thrombotic vasculopathy (FTV) is assoc. w/ CP
every pregnant mother is given a β-HCG test (beta human chorionic gonadotropin) as standard to test for
prenatal abnormalities
neonatal cause
major risk factor is pre-term birth (premature)
• due to higher risk for CP-assoc. disorders in premature babies like infection, combined w/ the fact that the
early labour may have been induced by complications that have already caused fetal neurologic damage
• normal term is 37-41 weeks, CP risk for 32-37 weeks is 5x greater
• 50% of CP is in premature children
birth asphyxia: tight nuchal cord, prolapsed cord
uterine bleeding causing brain anoxia
ascending infection (vagina to uterus) transmitted to baby during deliver
• multiple pre-parturition vaginal exams increases risk
postnatal cause
brain damage in infancy or early childhood
young children are more susceptible & vulnerable than adults to harm like infection & malnutrition b/c they are
less developed and more demanding
CP Pathology
two major types of injury occur in the perinatal period
• haemorrhage
○ increased risk in premature babies of intraparenchymal haemorrhage w/in the germinal matrix, near the
junction b/w the thalamus & the caudate nucleus
• infarction
○ increased risk in premature babies of periventricular leukomalacia (infarct around ventricles damaging
white matter)
○ can lead to development of large cystic lesions throughout the hemispheres - multicystic encephalopathy
CP Diagnosis
paediatricians analyse developmental milestones (e.g. sitting up by 7 months) to test for delays
otherwise it is hard to diagnose CP w/in the first year
brain MRI
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brain MRI
CP Treatment
currently no cure
therapy, surgery & meds can alleviate some symptoms
Therapy
physical & occupational therapists work w/ the pt.
• assistive technology
• speech therapy
• new: constraint-induced movement therapy - temporarily constraining stronger limbs (e.g. put in arm in cast)
to force the pt. to work on the weaker limbs (also used in stroke pts. etc.)
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Surgery
• tenotomy: tendon is cut and the limb is cast in a more normal position while the tendon regrows
• selective dorsal rhizotomy (SDR): cutting selected nerve roots in the spinal cord to prevent stimulation of
spastic muscles
Meds
• botulinum toxin injected directly into spastic muscles reduces spasticity
• alcohol or phenol injections into nerves controlling spastic muscles
• seizure meds
• amino acids stimulate neurogenesis
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10. Literature Searching on
Disability
1. take time before you search to come up w/ a strategy
2. bookmark useful pages
a successful search
• removes irrelevant references
• produces a manageable number of highly relevant references
step 1: define your need
• what are the core concepts
• identify key words or synonyms
e.g. How would autism effect a child's communication skills?
Keyword 1
Keyword 2
Keyword 3
Autism
AND child
AND “communication skills”
OR
OR
OR
Autistic
children
“language development”
OR
OR
“autism spectrum disorder”
vocabulary
step 2: determine your resources
• primary info e.g. research articles, statistics
• secondary info e.g. textbooks, review articles
• tertiary info e.g. databases, biographies
search resources
• Google Scholar
• UCD OneSearch
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• UCD OneSearch
• Lenus
databases
• PubMed
○ access it through OneSearch b/c you are automatically authenticated as a UCD student
○ if PubMed doesn't have the option to view full article, try copy & paste the article title into Google Scholar
• PsycInfo
• PsycBooks
step 3: search
tips for narrowing search results
• AND if you want both terms
• OR if you only want one of the terms e.g. for synonyms
• NOT if you don't want a term
• "phrase searching" to search for a string of words in order
• use limits/filters to rule out search results of the wrong type, year, etc.
tips for broadening search results
• use OR and combine lots of synonyms (autism OR autistic OR autistic spectrum disorder)
• truncation: put an asterisk at the end of a word and it will search for words containing that word e.g. child*
finds child & children
• use UK & US spelling
step 4: evaluating information
• examine author, date, title of journal, publisher, edition
• examine intended audience, objective reasoning, coverage, writing style
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11. Neurological Deficit in Spinal
Cord Injury
non-traumatic SCI is 2x more common than traumatic
e.g. vascular, neoplastic, inflammation, infection, degenerative
Clinical assessment in SCI
1. Level of injury
2. Severity of injury
3. Clinical spinal cord syndromes
1) Level of injury i.e. at what height of the spinal cord is the lesion?
determined by motor & sensory examinations
motor: manual muscle testing
sensory: dermatome assessment using modalities of light touch, pin prick, position, vibration & temp.
American Spinal Injury Association Scoring (ASIA)
a motor & sensory function score is given to each vertebral level, to determine the level of injury
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Assessing Motor Function
revision: descending motor pathways
The corticospinal tracts (from cortex to spinal cord) are involved in voluntary movement
the CS tracts decussate at the pyramids in the lower medulla
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the CS tracts decussate at the pyramids in the lower medulla
• 80% of fibres cross to the contralateral lateral CS tract
• 10% do not cross and join the ipsilateral lateral CS tract
• 10% do not cross and join the anterior CS tract
Assessing Sensory Function
revision: ascending sensory pathways
Somatosensory pathways
1. Dorsal column: discriminative touch, conscious proprioception, vibration
2. Spinothalamic: pain (nociception), temperature, crude touch, pressure
3. Spinocerebellar: unconscious proprioception, some pain & pressure
dorsal column & spinothalamic pathways are tested in SCI
dorsal column pathway
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dorsal column pathway
1st order neurone: synapses in the nucleus gracilis (for lower limb) or cuneatus (for upper limb) - Grace has nice
legs & John Cooney has big arms
2nd order: decussates and ascend as the contralateral medial lemniscus to the ventral posterolateral nucleus (VPL)
in the thalamus
3rd order: projects from VPL to postcentral gyrus somatotopically
sidenote: Romberg's Sign
standing upright requires visual info (eyes), proprioceptive info (DC system) & balance (vestibular apparatus)
generally we can maintain posture w/ 2 out of 3 of these factors
Romberg's Sign is when the pt. can maintain balance when eyes are open but falls when eyes closed
indicative of dorsal column lesion (i.e. only 1 of 3 factors is operational)
spinothalamic pathway
1st order: from peripheral receptor to the ipsilateral dorsal horn of the spinal cord
2nd order: crosses the midline and projects in the contralateral spinothalamic tract to the thalamus
3rd order: projects to the cortex
the anterior ST tract carries localised pain, whereas the lateral tract carries more diffuse types of pain
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Determining level of injury from sensory exam
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2) Severity of injury
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3) Clinical Spinal Cord Syndromes
if the spinal cord is partially damaged, the relative position of the lesion and of the ascending & descending tracts
determines which modalities are lost and which are preserved
(i) Central Cord syndrome
greater weakness in the upper limbs than lower limbs
occurs in the cervical region
more common in elderly pts. and in those w/ cervical stenosis
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(ii) Brown-Séquard syndrome
most common cause is penetrating trauma e.g. gunshot, stab wound seen in stabbing
cord hemisection results in
• ipsilateral loss of corticospinal & dorsal column pathway modalities at and below the level of the lesion
• contralateral loss of spinothalamic modalities, beginning a few segments below the level of the lesion (b/c 2nd
order spinothalamic fibres ascend for a few segments before decussation)
(iii) Anterior Cord syndrome
variable loss of motor, pain & temp. while preserving proprioception
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(iv) Conus Medullaris syndrome
most distal segment of the cord, located at vertebral level L2
lesion here causes loss of perianal sensation & motor loss, and bowel & bladder dysfunction
(v) Cauda Equina syndrome
comprised of peripheral nerves (LMNs) from L2 to the filum terminale
lesion here causes weakness & sensory deficit in the region or nerves affected
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Upper & Lower Motor Neuron Syndromes
the lesion is classified depending on whether or not it has synapsed at the anterior horn of the spinal cord, or in the
case of cranial nerves if it is before or after the motor nuclei
upper motor neuron lesions aka pyramidal insufficiency occur in conditions affecting motor neurons in the brain or
spinal cord such as stroke, multiple sclerosis, traumatic brain injury & cerebral palsy
lower motor neuron lesions are usually due to trauma to peripheral nerves
UMN: spastic paralysis (paralysis & hypertonia)
LMN: flaccid paralysis (paralysis & hypotonia)
types of hypertonia
• clasp-knife rigidity: resistance of a joint to passive extension which gives way suddenly on exertion on further
pressure - more common in UMN lesions
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pressure - more common in UMN lesions
• lead-pipe rigidity: resistance of a joint to passive extension which is constant throughout the range of motion more common in extrapyramidal tract lesions
Physical exam: Babinski sign
normally in adults when the sole of the foot is stimulated it elicits a plantar reflex
in infants < 2yrs the reflex is to dorsiflex the hallux instead
when this reflex is seen in an adult it is called a positive Babinski sign and may be indicative of UMN lesion
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12. Cerebral Injury
Acquired Brain Injury (ABI) can be divided into 5 types:
• traumatic (TBI)
• haemorrhagic (HBI)
• vascular (VBI)
• anoxic (aka cerebral hypoxia / hypoxic-anoxic injury [HAI]) e.g. cardiorespiratory arrest, hanging, drowning
• infective (IBI) e.g. meningitis, encephalitis
progression of brain injury varies greatly b/w the groups
The Iceberg of ABI
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if we focus too much on the most severe cases then resources are left short for the majority of survivors
Primary Injuries
in diffuse axonal injury, the lost axons basically makes the brain operate like an old, slow computer, not making
the connections fast enough
CT scans look innocuous
Phineas Gage - 1848
American railroad worker survived an accident where a large iron rod was driven through his left frontal lobe
went from being sound to being a prick - friends & colleagues started calling him 'No Longer Gage'
sparked huge debate and interest about cerebral localization and was probably the first case to suggest that injury
to different parts of the brain can cause different personality changes
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to different parts of the brain can cause different personality changes
Neurological Model of Disorders of Self-Awareness (Prigatano 1999)
• frontal: impaired self-awareness as a social being, inappropriate, cannot anticipate
• occipital: no awareness of cortical blindness
• temporal: no awareness of memory impairment, distortion of visual auditory problems, issues explained by
the pt. on the basis of external causes, may lead to paranoia
• parietal: no awareness of impaired sensorimotor function
this guy had a right parietal lobe lesion, and initially drew a picture of himself as having only half a body, drawings
became more accurate as he recovered
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MANAGING ACQUIRED BRAIN INJURY PATIENTS
Referral Information - The Big 5
• communication
• insight
• compliance
• memory
• community supports
The Glasgow Coma Scale is used to measure the conscious state of a pt.
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Rehabilitation - ASAP
• rehab staff support the acute team in pt. mgmt. and guide them on benefits of positioning, spasticity mgmt.,
contracture* prevention, etc.
• identify obstacles to good recovery & effective rehab
• education on prognosis, care needs & post-rehab therapy targets
• promote return to best quality of life
*contracture = permanent shortening of a joint/muscle
Locked-In Syndrome (LIS)
aka cerebromedullospinal disconnection, de-efferented state, pseudocoma, and ventral pontine syndrome
The pt. is aware of everything but cannot move or communicate verbally due to complete paralysis of nearly all
voluntary muscles in the body except for the eyes
Total locked-in syndrome is a version of locked-in syndrome wherein the eyes are paralyzed as well
Experts believe that a vegetative state (w/ no awareness of the world) is preferable to locked-in syn. but 70% of
LIS pts. don't agree - they generally prefer to have a functional brain and be trapped than to be unaware
But then you have cases like Tony Nicklinson in the UK who has been locked in for 10 years since a stroke, and
wants to die but currently is not allowed to be euthanised under British law
'I can’t tell you how significant it would be in my life, or how much peace of mind I would have, just
knowing that I can determine my own life instead of the state telling me what to do - staying alive
regardless of my wishes or how much suffering I have to tolerate until I die of natural causes.
'I cannot scratch if I itch, I cannot pick my nose if it is blocked and I can only eat if I am fed like a baby only I won’t grow out of it, unlike the baby.
'I am washed, dressed and put to bed by carers who are, after all, still strangers. You try defecating to
order while suspended in a sling over a commode and see how you get on.'
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13. Spinal Injury
a secondary condition is any medical, social, emotional, mental, family or community problem that a person with a
primary disabling condition likely experiences
examples
1. Bladder management
2. Respiratory compromise
3. Skin care
1) BLADDER MANAGEMENT
The bladder is able to stretch to hold urine until you are ready to piss. The bladder walls are made up of the
detrusor muscles which contract to urinate. The lower portion of the bladder, which funnels urine into the urethra,
is the bladder neck.
The internal and external sphincter muscles form a ring around the urethra to keep urine in the bladder. In
micturition, they relax to allow urine to flow out of the bladder.
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voiding (urination) is a complex neurophysiological process
when the bladder is full, nerve endings in the bladder wall send a message to the pons via the spinal cord
the brain sends a message back to contract the detrusor muscle & relax the sphincters
if you can't reach a toilet, like if you’re at mass for example, the brain delays the message
Parasympathetic = Pissing, Pelvic nerve
Sympathetic = Storage, Hypogastric nerve
The IUS is the convergence of detrusor muscle fibres in bladder neck
under autonomic control also, as in detrusor muscle
The EUS is a contractile striated skeletal muscle ring
under voluntary control: innervated by the pudendal nerve
effect of action on muscle detrusor IUS EUS
contraction
void
fill fill
relaxation
fill
void void
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Vesicoureteral Reflex (VUR)
the retrograde flow of urine from the bladder to the ureters or kidneys
the ureters enter the posterior bladder obliquely which helps to prevent VUR
ureter compression b/w bladder muscular layers also creates a valve mechanism to block reflux
when VUR occurs despite an intact valvular mechanism, it is called secondary VUR
e.g. increased vesicular pressure can distort the ureterovesical junction, which increases risk of VUR
the cause of increased pressure may be anatomical (e.g. stenosis) or functional (e.g. UTI)
in most cases of SCI, VUR is a/w a functional cause
resolution of functional VUR will usually occur if the precipitating cause is treated & resolved
Bladder capacity
normally holds 500ml urine
at about 150ml stretch receptors in the detrusor begin signalling the CNS via afferent nerves
at 400ml you very much want to piss
after emptying the bladder may still retain 50ml
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Voiding after spinal cord injury
since messages b/w the bladder & the brain cannot travel up & down the spinal cord, the voiding pattern described
above is not possible
neurogenic bladder is bladder dysfunction that may be flaccid or spastic, depending on the level of SCI
the main symptom of neurogenic bladder is overflow incontinence
Flaccid Bladder
SCI below T12 (nearer the Floor)
signals from stretch receptors in the bladder do not tell the detrusor muscles to contract in a reflex action to empty
the bladder when full
this can lead to over-stretching of the and even bladder rupture in extreme cases
this causes damage to the bladder wall and increases risk of infection and kidney damage by VUR
characterised by hypotonia
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characterised by hypotonia
management
requires emptying of the flaccid bladder before overflow leakage or stretching of the bladder occurs
techniques include
• Credé's maneuver - exerting manual pressure on the abdomen at the location of the bladder
• Valsalva maneuver - holding your breath and squeezing your abdominal muscles as if you were doing a poo to
put pressure on the bladder
• Anal or rectal stretch
• Tapping the are over the bladder to stimulate the detrusor muscle
• Intermittent catheterization
Intermittent Catheterization
you drain your bladder several times a day by inserting a small rubber or plastic tube
pts. can learn to self-catheterize, increasing independence
the tube does not stay in the bladder b/w catheterizations (that would be an indwelling device)
indwellings have a higher risk of UTI, urethritis, periurethritis, prostatic abscesses & urethral fistulas
suprapubic catheterization may be preferable to transurethral (Foley) in some cases
Spastic Bladder
SCI above T12 (nearer to outer Space) or brain damage
precise symps. vary w/ site & severity of lesion
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precise symps. vary w/ site & severity of lesion
bladder contraction & ext. urinary sphincter relaxation are typically uncoordinated (detrusor-sphincter
dyssynergia)
hypertonia in detrusor muscles may cause involuntary contractions and accidental voiding i.e. incontinence
management
tx depends on pt. ability to retain urine in the bladder
• if a pt. retains normal volumes they can use techniques to trigger voiding on demand when they have toilet
access e.g. applying suprapubic pressure, scratching thighs
• if a pt. cannot retain normal volumes, tx is the same as that of urge incontinence - antimuscarinic
(anticholinergic) medicines block nerve impulses to the bladder which relax the detrusor muscle
a pt. on antimuscarinics should be monitored for:
1. residual volume (if not using catheterization)
2. adverse effects e.g. confusion, constipation
3. UTIs
bladder augmentation
aka augmentation cystoplasty
surgical procedure that involves taking tissue grafts from a section of the ileum/stomach/colon and attaching them
to the urinary bladder by sewing or stapling to create a pouch or wider wall to increase reservoir capacity
this is usually a last resort
Bladder complications following SCI
1. UTI
• catheters give bacteria an easy way to invade the bladder
• SCI pts. may also have greater residual volume and decreased ability to flush out infection
• signs of bladder infection include rise in body temp, autonomic dysreflexia, cloudy urine
• antibiotic tx
2. Calculi
• stones form in the bladder when waste products crystallise, usually made up of calcium
• risk factors: male, older, poor fluid intake, incomplete bladder emptying, recurrent urine infection
• stones can cause irritable bladder (basically the same thing as overactive bladder)
• may also occlude catheters and cause infection
• drinking plenty of fluids helps keep the bladder flushed out preventing bacterial stasis and the formation of
stones
• however compliance is an issue b/c pts. w/ catheters know that the more fluid they drink the more they will
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• however compliance is an issue b/c pts. w/ catheters know that the more fluid they drink the more they will
have to use the bloody catheters
• large stones may need to be excised via cystoscopy, or they can be broken up by emission of shock waves
(lithotripsy)
2) RESPIRATORY COMPROMISE
Breathing
the breathing process is controlled subconsciously, involving mainly the intercostal muscles & the diaphragm
• the diaphragm is innervated by the phrenic nerves - C3,4,5 keeps the diaphragm alive
• intercostal are innervated by nerves from the thoracic vertebrae (T1-T11)
Cough
if dust enters the respiratory tract it triggers a cough reaction
coughing is induced by a rapid contraction of abdominal muscles to expel air at force from the lungs
• transversus abdominis (T7-T11)
• rectus abdominis (T7-11)
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SCI LEVEL OF INJURY
C3
C4-T6
T6-T12
<T12
BREATHING
paralysis of all breathing muscles - ventilator required
usually mainly by diaphragm
normally unaffected
preserved
COUGH
paralysis - carer assistance required
impaired
mostly impaired
preserved
3) SKIN CARE
Pressure ulcers
aka decubitus ulcers aka bedsores
localized injuries to the skin and/or underlying tissue that usually occur over a bony prominence as a result of
pressure, shear or friction
pressure applied to tissue causes partial or total obstruction of blood flow to the area
highest risk of developing pressure sores are pts. whose movement is limited e.g. wheelchair pts.
identifiable by their pungent smell as well as obviously discoloration & general appearance
the affected area may feel warmer than surrounding area
these sores can be caused by inappropriate pressure garments, lack of hygiene, incorrect catheter bag placement,
avoidable things
our tolerance for pressure sores should be ZERO
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our tolerance for pressure sores should be ZERO
staged according to damage
induration (hardening) is one of the most common signs of a stage 1
never massage over a stage 1 pressure ulcer - will increase the damage and likelihood of stage 2 development
complications of decubitus ulceration
• can lead to amputation or even death if left unchecked
• can become infected even when treated - e.g. Christopher Reeves developed a systemic infection from an
infected bedsore despite the best medical care available, and had a heart attack before going into a coma from
which he never recovered
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14. Living with a Disability
Ms. CH is a 25 year old female who was born w/ spina bifida (myelomeningocele) and hydrocephalus
she has had >20 surgeries, most of them as a child, inserting and changing shunts to remove the CSF from the
brain
Spina bifida is a congenital developmental disorder caused by the incomplete closure of the neural tube
Myelomeningocele, the most severe form of SB, involves protrusion of the spinal cord in the lumbar region,
whereas a meningocele is protrusion of the meninges only
Hydrocephalus (literally water on the brain) is an abnormal accumulation of CSF in the ventricles of the brain
she suffers from fatigue, difficulty concentrating, organisation & finishing tasks due to the hydrocephalus
growing up she had great difficulty walking and fine motor skills
a barrier is that her disability is not visible so she's been accused over the years of just being lazy or inattentive
patients with mobility disorders like CH need to be in very good physical shape or else walking may become
impossible
Overactive bladder
one of the biggest challenges in her life has been continence due to an overactive bladder, commonly a/w SB
she would have to go to the bathroom or catheterise herself every 30 mins and it made life just ridiculously hard
she took meds (Toviaz) which were moderately effective
3 months ago she received a botulinum toxin injection to her bladder to target the muscular spasticity causing her
polyuria
it has been very successful and now her bathroom urgencies are closer to every 3 hours
outrageously, in Ireland the bladder botox is not performed on under 18s, but CH is a big advocate of changing this
imagine how different her childhood would have been if this was done when she was a kid
in March 2015 in the UK a 3-year old girl got it done - raise your game Ireland
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otherwise though she was treated all her life completely in Dublin and praised the great spina bifida services we
have
Spina bifida in Ireland
we have one of the highest SB rates in the world
neural tube defects like SB can be largely prevented with intake of folic acid
women of child-bearing age should be taking 5mg/day just in case, but in fairness I can see how you wouldn't
bother, unless you were pregnant
In France they supplement the country's bread with folate, maybe that could work
CH emphasised when living with a disability the importance of:
• positive attitude
• determination
• doctors
• family + friends
• extra support e.g. counsellors, psychologists
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15. Intellectual Disability
impaired intellectual function arising in developmental period
old terminology: subnormal, feeble-minded, moron, idiot, imbecile
modern terminology: intellectual disability, learning disability, learning difficulties, developmental disability,
mental handicap, mental retardation
ID Classification
1. By IQ
• mild = 69-50
• moderate = 49-35
• severe = 34-20
• profound = <20
2. By Social & Adaptive Abilities
• mild: independent, academic difficulties - mental age 9-12yrs
○ participation & contribution to family & community
○ capable of meaningful relationships
○ may find subtleties of interpersonal relationships & social rules difficult to understand
○ may work, live & travel
○ may need help handling money and organising daily life
○ may learn to read & write w/ appropriate teaching
• moderate: limited language, needs supervision - mental age 6-9yrs
○ basic communication skills present
○ require supervision w/ self-care
○ capable of meaningful relationships
○ can enjoy a range of activities w/ family & friends
○ may be able to learn to travel on regular public transport routes w/ specific training
○ greater difficulty problem solving when unexpected events occur
○ may learn to recognise some words in context e.g. 'Ladies' & 'Gents'
○ can make choices & understand daily schedules using timetables
○ need lifelong support in planning & organisation
○ may develop independence in personal care such as toilet hygiene, dressing & bathing
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• severe: associated handicaps, poor language, needs help w/ activities of daily living
○ communication & motor difficulties
○ require greater supervision w/ self-care
○ live w/ family or 24-hour staffed group home
○ usually recognise familiar people and may have meaningful relationships
○ likely to have little or no speech and rely on gestures, facial expression & body language to communicate
○ generally rely on photos or objects to support understanding
• profound: immobile, incontinent
○ require 24 hour supervised care
○ often have multiple medical problems
○ inner world is largely unavailable to others b/c of communication difficulty
○ can learn some new skills but v/ slowly
Prevalence
• based on IQ scores, the prevalence of intellectual disability (IQ<70) is 3%
• however based on need for support, prevalence of ID is only 1%
Philosophies
• custodial care / segregation / mental hospitals
• inclusion - the placement of students in regular classes for all or nearly all of the school day
• normalisation - the idea that people w/ a learning disability should live in ordinary places doing ordinary
things w/ ordinary people, essentially experiencing the normal patterns of everyday life
Institutions
The Stewarts Hospital was set up in Ireland in 1869 by Dr. Henry Hutchinson Stewart to care for people w/ ID and
remained the only institution of its kind in the country for 50 years
In the 1960s & 70s, the attitudes in the West towards mental institutions began to change
In the UK 1971 White Paper 'Better Services for the Mentally Handicapped' set out the policy for coordinated
health & personal care services
Modelling disability - two major models compete for acceptance
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1. Medical Model
○ emerged from people in caring & welfare professions
○ sometimes known as the 'individual' model
○ the model locates the problem w/ the individual rather than society
○ implies that disabled people have to overcome barriers to adjust to fit society rather than adjusting society
to accommodate the disabled people
2. Social Model
○ devised by disabled people
○ describes the restrictions & limitations in the lives of disabled people as resulting from environmental,
attitudinal & organisational barriers w/in society
Fitting the medical model into the social model
• doctors are trained to treat illnesses, not to alleviate social conditions or circumstances
• in the case of disabled people presenting w/ illness, prevention of further disability is also an important role
of the doctor
• problems arise where doctors attempt to treat the disability itself
• doctors and other HCWs are socialised to believe they have to be the expert and provide solutions
• doctors and disable people must work together to identify and tackle the problems of disability
INTELLECTUAL DISABILITY AETIOLOGY
idiopathic in 30-50%
antenatal e.g. infection, intoxication, placental dysfunction
perinatal e.g. birth asphyxia
postnatal e.g. infection, injury
genetic predisposition can be:
• Chromosomal abnormality e.g. Down, Fragile X, Turner's
• Metabolic disorder e.g. Phenylketonuria
• Autosomal dominant e.g. Tuberous sclerosis
• Intracranial malformation e.g. Hydrocephalus
Down Syndrome
a set of mental & physical symps. that result from an extra copy of Chr. 21
mental & physical symps. range from mild to severe
other potential health problems include heart disease, dementia & hearing loss
Fragile X Syndrome
the most common cause of inherited mental retardation (MR)
second only to DS as an aetiology for learning disability
abnormality in X Chr. seen as a discontinuity of staining or as a constriction in the long arm (appears broken →
"fragile X")
incidence: 1/4000 males, 1/8000 females
found among all ethnic groups and in families w/ no hx of MR
Males: more severely affected (X-linked)
• IQ 20-70
• long face, prominent ears, macro-orchidism
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•
•
•
•
•
•
•
long face, prominent ears, macro-orchidism
hyperactivity
autism in 30%
hand flapping, hand biting
speech & language difficulty
phenotype becomes more marked w/ age
generally unable to live independently
Phenylketonuria (PKU)
incidence: 1/10,000 live births
disorder of amino acid metabolism
children are normal at birth but if they don't alter their diet they can have severe mental retardation w/in 6
months due to hyperphenylalaninemia
PKU is one of 6 conditions screened for in newborns in Ireland using the Guthrie test
clinical signs: learning disability, epilepsy, hyperactivity, microcephaly, autistic features, eczema, irritability,
voluntary purposeless repetitive motions
Tuberous sclerosis aka tuberous sclerosis complex (TSC)
rare multi-system genetic disease that causes benign tumors to grow in the brain as well as
kidneys/heart/eyes/lungs/skin
symps. include seizures, intellectual disability, developmental delay, behavioural problems, skin abnormalities,
lung & kidney disease
caused by a mutation of TSC1 or TSC2 genes that code for tumour growth suppressor proteins hamartin &
tuberin respectively
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Mental illness in people w/ learning disabilities
• mental illness & learning disability have been distinguished since at least medieval times
• the fact that both could coexist in the same individual has only been appreciated more recently
• this phenomenon is sometimes called dual diagnosis
diagnostic overshadowing: the intellectual disability may mask the psychopathology
baseline exaggeration: pre-existing cognitive defects & maladaptive behaviours can distort symptoms
mental illness is more prevalent in people w/ learning disabilities compared to the general population
• schizophrenia: 3% vs. 1%
• anxiety/depression: 4x more likely
• autism: approx. 75% have learning disability
role of psychiatrist
• assess, manage & treat psych. illness
• assessment of behaviour, personality, functioning, environment & relationships
• Bio-Psycho-Social Model
• development of a diagnostic formulation
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• development of a diagnostic formulation
• prescribe & monitor meds
• MDT approach involving client & carers
○ The Michael Report suggests that people w/ LD and their carers should be involved as partners in the
delivery of care
some causes of challenging behaviour
• pain/discomfort
• epilepsy
• medication
• communication disorders
• autism
• high/low arousal
• inherited condition
Epilepsy
group of neurological disorders characterised by epileptic seizures
increased prevalence in people w/ learning disability
increases likelihood of psychiatric problems
difficulties in diagnosis & diagnostic shadowing
tx may improve wellbeing but may also cause psychiatric problems & cognitive impairment
Emma's Story - "Death by indifference"
Emma had a severe learning disability, which meant she sometimes had difficulty communicating how she felt
She was admitted to hospital for tests after complaining of pain
The hospital found her behaviour difficult to manage and sent her home without any pain relief
When Emma and her mum returned to hospital they were told she had cancer
There was a 50:50 chance that she would survive if treated, but the doctors decided not to treat her because she
couldn't provide consent
A week later Emma wasn't eating or drinking so her mother took her back to the hospital and tried to make the
doctors treat her
She went to the High Court to force the doctors to treat her but by the time the order came through, the cancer
had progressed too far
Emma was admitted to a palliative care hospice where she died a month later, aged 26
Findings of Mencap Report 2007
1. people w/ LD are seen to be a low priority
2. many healthcare professionals do not understand much about LD
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2.
3.
4.
5.
6.
many healthcare professionals do not understand much about LD
many do not properly consult & involve families & carers
many do not understand the law around capacity & consent to tx
healthcare professionals rely inappropriately on their own estimates of a person's QOL
the complaints system w/in the NHS is often ineffectual, time-consuming & inaccessible
Trends in pattern of health service provision for people w/ learning disability
• de-institutionalisation & greater use of community health services
• increased service user & carer consultation and involvement in improving services
• longevity and those w/ complex needs living to adulthood, recognition of needs of older adults
• improved understanding of developmental & seizure disorders
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16. Spinal Injury & Autonomic
Dysfunction
Sympathetic (fight/flight)
preganglionic neurons emerge from thoracic & lumbar regions of spinal cord (spinal nerves, lat. horn via ventral
root) - think impulsive response from your gut
symp. ganglions form chains
Parasympathetic (rest/digest)
preganglionic neurons originate in brainstem or sacral region of spinal cord (cranial nerves III, VIII, IX, XI) - think
calm response from your brain
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calm response from your brain
terminate in ganglia near effector organ
parasymp. ganglions do not form chains - Morgan Parra can't wear chains during matches
spinal cord transsection causes loss of autonomic function of nerve fibres originating below the site of lesion
as most PSNS fibres arise from the brain, the PSNS is largely unaffected in SCI, except for pelvic splanchnic nerves
SNS is more affected - injury above T6 will cause significant damage to SNS function, increasing in severity w/
height
Complications of SCI
neurogenic shock
sign
hypotension
bradycardia
peripheral vasodilation
hypothermia
cause
↓ cardiac function & vasoconstriction
predominant PSNS control
loss of SNS vasoconstriction
loss of SNS heat production
usually only when lesion is above T6
shock associated w/ SCI involving the lower thoracic cord must be considered haemorrhagic until proven
otherwise
important to rule out other forms of shock before diagnosis of neurogenic shock is made
autonomic dysreflexia
clinical syndrome that develops in pts. w/ SCI above T6, resulting in acute, uncontrolled HTN
a sensory stimulus (e.g. from bladder, bowel) is carried into the spinal cord via intact peripheral nerves
the input travels up the spinal cord & evokes a massive reflex sympathetic surge from the thoracolumbar SNS
nerves, causing widespread vasoconstriction, most significantly in the subdiaphragmatic (splanchnic) vasculature
this causes peripheral arterial hypertension
intact baroreceptors in the neck detect the systemic high blood pressure and signal this information to the brain
via cranial nerves IX and X
the brain tries to resolve the HTN in two ways
1. attempts to shut down the sympathetic surge by sending descending inhibitory impulses
however, most of the impulses are blocked and do not reach symp. outflow b/c of the SCI
2. attempts to bring down peripheral blood pressure by slowing the heart rate through an intact vagus nerve
(PSNS)
however, this compensatory bradycardia is inadequate and HTN continues
in summary, the sympathetics prevail below the level of neurologic injury, and the parasympathetic nerves prevail
above the level of injury
once the inciting stimulus is removed, reflex hypertension resolves
if left untreated, sustained severe peripheral HTN can cause seizures, retinal haemorrhage, pulmonary oedema,
renal insufficiency, myocardial infarction, cerebral haemorrhage, & death
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autonomic dysreflexia can sometimes give false hope w/ the illusion of a paralysed pt. regaining some mobility, as
lower limbs might start to shake - but is not controlled movement, it is just a reflex
bladder dysfunction
PSNS = Piss
SNS = Storage
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SNS = Storage
predominant PSNS control w/ impaired SNS function can therefore lead to incontinence
Urinary Incontinence = involuntary loss of urine
• stress: caused by raised intra-abdominal pressure
• urge: loss of urine as soon as void is noticed
• total: no voluntary control
• functional: normal bladder function, intellectual/mobility impairment prevents pt. from reaching toilet
• overflow: bladder fills to capacity, urine leaks out urethra
Sometimes Urine Totally Flows Out
one tx option is the insertion of a catheter
• indwelling vs. intermittent
• suprapubic vs. transurethral
sexual function
men w/ spinal cord injury CAN have an erection & ejaculate (in non-conventional ways)
women w/ spinal cord injury CAN become pregnant & give birth (endocrine system, not ANS, is primarily involved)
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17. Dysphagia
Dysphagia is a difficulty in eating as a result of disruption in the swallowing process
Speech & language therapists (SLTs) typically spend the majority of time working with swallowing & feeding issues,
and they are often the first point of contact for dysphagia patients
The Normal Swallow
foods/liquids are transported from mouth → pharynx → oesophagus → stomach
it is a smooth, coordinated process involving a complex series of voluntary & involuntary neuromuscular
contractions
the swallowing centre is located in the reticular formation of the medulla
normal swallowing requires sensory/motor function of cranial nerves V, VII, IX,X, XII
CN V (Trigeminal) - muscles of mastication
CN VII (Facial) - taste in anterior tongue, oropharynx sensation
CN IX (Glossopharyngeal) - taste in posterior tongue, sensorimotor pharyngeal function
CN X (Vagus) - taste in oropharynx , larynx & laryngopharynx function in airway protection
CN XII (Hypoglossal) - motor innervation of tongue
3 Phases of Swallowing
• Oral
• Pharyngeal
• Oesophageal
1. Oral Phase
saliva is produced when food is anticipated
food is ingested, prepared (mastication) and modified (lubrication)
voluntary control
weakness in the lips/tongue/cheek, will result in
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weakness in the lips/tongue/cheek, will result in
• an inability to organize food into well-formed bolus that can be moved posteriorly towards the pharynx
• xerostomia (dry mouth) - difficulty breaking down solids
2. Pharyngeal Phase
soft palate rises, hyoid bone & the larynx move upwards & forwards
vocal folds move to the midline and the epiglottis folds backward to protect the airway
tongue pushes backwards & downwards into the pharynx to propel the bolus down
tongue is assisted by pharyngeal walls which move inward w/ a progressive wave of contraction from top to
bottom
upper oesophageal sphincter relaxes during this phase and is pulled open by the forward motion of the hyoid &
larynx
the UES closes after passage of the bolus, and pharyngeal structures return to the reference position
examples of difficulties in the pharyngeal phase:
• timing - if the epiglottis doesn't protect the larynx at the right point food can descend down the airways causing
cough/aspiration
• weakness - residual food in the pharynx after swallow can lead to aspiration
3. Oesophageal Phase
SLTs less involved in this phase
begins w/ crico-pharyngeal relaxation
involuntary
sensation of food sticking at base of throat/chest
difficulties due to peristalsis dysfunction, tumour, stricture (narrowing)
Complications of Dysphagia
1. Aspiration & aspiration pneumonia
2. Dehydration
3. Malnutrition
4. Hypoxia
5. Loss of pleasure in mealtime
Aspiration
the passage of food or liquid through the vocal folds
It may be overt (e.g. coughing) or silent (no cough or clear sign of aspiration)
Signs of Aspiration
Acute
Chronic
- Eyes watering
- Weight loss
- Reddening of the face
- Dehydration
- Changes in rate of respiration - Pyrexia of unknown origin
- Difficulty breathing
- Pneumonia
- Facial grimacing
- Hunger
- Coughing
- Refusal to eat
- Gurgle voice quality
- Attempts to clear throat
- Chest pain
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Aspiration pneumonia is bronchopneumonia that develops due to presence of foreign materials in the bronchial
tree
an aspirated bolus is more likely to enter the right lung than the left b/c the right bronchus is more vertical
auscultation: wet crackling noise
radiography: evidence of infiltrate
not everybody who aspirates gets aspiration pneumonia
risk factors
• weak cough
• impaired mobility
• reduced sensation
• immunodeficiency
• the composition of the bolus
• oral hygiene
Dysphagia & acquired brain injury
• oral phase: difficulty moving food around the mouth & chewing
• pharyngeal phase: reduced sensation, weak cough (↑ risk of aspiration)
• language difficulties
• behavioural difficulties
• attention, concentration, fatigue
Dysphagia & spinal cord injury
• reduced respiratory support
• positioning difficulties
• tracheostomy
Tracheostomy
a stoma created in the anterior neck (by a surgical procedure called tracheotomy) to serve as an independent
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a stoma created in the anterior neck (by a surgical procedure called tracheotomy) to serve as an independent
airway or as a site for tube insertion
it increases risk of dysphagia due to mechanical & physiological changes to the swallowing process in the
pharyngeal phase
mechanical impact
• larynx is anchored which can cause aspiration & pharyngeal pooling
• saliva & secretion mgmt. may be insufficient or excessive, thick saliva can adversely affect swallowing
physiological impact
• disruption of airway pressures can cause accumulation of residue in the pharynx
• reduction of airflow through the larynx reduces laryngeal sensation which can eventually lead to silent
aspiration
50-80% of pts. w/ trachy tube in situ have difficulty swallowing
Assessment of swallowing
• external symps. may include coughing or throat clearing
• however 50% of aspiration cases are silent aspiration so diagnosis is more tricky
clinical exam
• oral motor exam
• modified Evans Blue Dye Test (only for pts. w/ trachys)
• food trials
objective assessments
1. videofluoroscopy (VFS)
• evaluates integrity of airway protection before, during, after swallowing
• can be used to assess effectiveness of postures, maneuvers, bolus modifications & sensory enhancements in
improving swallowing safety & efficiency
• disadvantages: expensive, limited availability, prolonged radiation exposure
2. fibro endoscopic evaluation of swallowing (FEES)
• a flexible endoscope is introduced transnasally
• laryngeal & pharyngeal structures are viewed
• the pt. can be assessed in terms of ability to protect the airway, initiate prompt swallow & clear residue in the
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• the pt. can be assessed in terms of ability to protect the airway, initiate prompt swallow & clear residue in the
pharynx
• disadvantage: bypasses oral cavity
4 other less common instrumental dysphagia assessments
• manufluorography
• cervical auscultation
• pulse oximetry (non-invasive measure of oxygen saturation in blood)
• ultrasound
Treatment of Dysphagia
the goals of dysphagia therapy are to reduce aspiration, improve the ability to eat and swallow and optimize
nutritional status
• advice regarding whether feeding by mouth is safe or not
• exercises for the lips, tongue, etc.
• trials w/ different foods & fluid consistencies
• advice on compensatory strategies e.g. posture, feeding technique
• sensory enhancement/stimulation
• referral for further investigations e.g. X-ray
• advice to parents or carers
methods of controlling rate of food intake
• weighted cup
• one-way straw
• volume-controlled vessels
alternate routes of food intake
• nasogastric tube
• parenteral (IV)
• PEG tube (percutaneous endoscopic gastrostomy)
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Modified Diets
viscosity can be altered to improve swallowing
• thinners are better generally in oral dysphagia
• thickeners are better generally in pharyngeal dysphagia
however, thickened liquids are minging
often doctors just prescribe them carelessly w/o consulting SLTs or considering the impact on pt. QOL
colder & fresher thickened liquids are more palatable - don’t expect pts. to drink a glass of thickened water that's
been prepared an hour ago
never leave a pt. on an NPO diet (nil per os i.e. no food or drink) for an extended period, especially on a bloody
Friday, and always consult the SLT - prick doctors think they know better, don't be that guy
Recovery
improvement in swallowing anticipated
stroke
ABI
poliomyelitis
cerebral palsy
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progressive degeneration anticipated
Parkinson's
amyotrophic lateral sclerosis (ALS)
multiple sclerosis
myasthenia gravis
muscular dystrophy
dystonia
18. Impact of Disability on
Families & Carers
Tasks facing those w/ serious/chronic illness:
• physiological - treatment, diet, etc.
• maintaining self-esteem
• blocking out recurring negative emotions
• enabling others to understand
• maintaining a valued lifestyle
Family Systems Illness Model
provides a normative, preventative systems model for psycho-education, assessment and intervention w/ families
interventions are family-centred, contextual & collaborative
the Illness Narrative including past history is elicited and shared
a "Psychosocial Map" is created w/ which to navigate through the illness
modes of intervention
• info & support
• care planning
• carer training
• counselling
The Developmental View
• emphasises the need for clinicians to be mindful of the timing of an illness for individual and the family
• overarching goal is for the family to deal w/ the developmental demands presented by the illness w/o family
members sacrificing their own or the family's development as a system
Review of Families & Health - Weihs, Fisher & Baird (2002)
Protective factors
family closeness
caregiver coping skills
mutually supportive relationships
clear family organisation
direct communication about the illness
Risk factors
conflict & criticism
psychological trauma related to disease
external stressors
family isolation
disruption of developmental tasks
rigidity of perfectionism
A family's ability to provide support often depends on its ability to obtain support
There is no direct link b/w severity of the injury and the family's adaptation
However in general, personality & behavioural changes are harder for families to cope with than physical injuries
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Grief and Loss Model
grief causes a physical reaction
• anxiety, nervousness, palpitations, sweating, nausea, loss of appetite
• sleep disturbance is often the first to come and the last to leave
ambiguous loss - when the loss is uncertain, incomplete or unresolved e.g. sudden infant death syndrome
disenfranchised grief - when the grief is not acknowledged by society e.g. your friend who was a notorious drug
dealer died but he was still your buddy like
goodbye without leaving - person is physically present but psychologically absent e.g. personality changes
newer thinking on the grief process is that instead of aiming to get back to the way things were, the emphasis
should be on adaptation
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