Transcript Down Syndrome - School of Medicine

Management of Disability
&
Down Syndrome
Presented by Dr Joan Murphy
Department of Paediatrics, TCD, 2009
Introduction
Aims
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Definition of disability
Definition of child groups
Family centred care of child
Key to care of child in hospital setting
Definition of Down syndrome
Treatable medial problems
Medical Management in DS
Think about all the Possibilities
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Definitions of Disability
 Disorder
 Impairment
 Disability
 Handicap
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Definitions of Disability
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(WHO 2001)
Mental impairment and learning disability
– Intellectual impairment
• Mild / moderate / severe / profound
• (IQ levels 50-69/35-49/20-34/>20) WHO 2001 Mental Health
– Learning disability
• Denotes the presence of lower than normal intelligence
(IQ) (review for genetic association – ? syndrome)
– Specific Learning disability
• Low intelligence/normal intelligence/high intelligence
• ‘dyslexia’ (reading/writing/maths/ comprehension)
• Developmental Coordination Disorder (DCD)
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Children with Disability
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Physical/ Sensory/Cognitive/Social
Attention Deficit Hyperactivity Disorder
(ADHD)
Autism
Cerebral Palsy
Down syndrome
Visually/Hearing impaired
Unlabelled (fine motor/gross motor)
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Key to Care of Child in Hospital
Age of child
 Trust
 Family centred care
 Commitment
 Involvement
 Time
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Child Groups Definition
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Infancy
(learning to trust/ vital bonding)
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Toddler
( ability to control their bodies)
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Early childhood
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Middle childhood ( sense of competence)
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Adolescence
(strong imagination)
(rapid physical and
emotional changes )
Greatest risk by hospitalization
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Family Centred Care
based on principles
Make Rights and well being of child your priority
View Parents key to child’s health & well being
View parents as experts for their child
Support parents as individuals
Facilitate access to supports
Build on what is there
Develop a partnership approach
Work on interagency & interdepartmental basis
Plan in a locally responsive way
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How to make it work
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Trust
Past experiences – borrow everyone's
“Tricks of the Trade”
Games (age/ability appropriate)
Flexibility (each child is an individual)
Choice (limit them to two)
Parents (collaboration)
Child (centre of the paediatric practice)
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Health Problems in Disabilities
 Respiratory diseases
  Hearing loss - 40% fail to get treatment
  Vision problems
  GI problems
  Epilepsy / skin
  Joint / Mobility
  50% Mental Health
  Screening
 No dedicated Guidelines for all disabilities
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Working in a Paediatric arena
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Communication
– verbal/ signing/ writing/ none?
Consent
Sedation - suitability / previous experience
Psychosocial impacts
– Child
– Family
Recovery & Many Future visits
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Care of a Patient with Disability
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Informed consent *
– Parent(s) Child/Adolescent
– Community liaison Nurse/ RMHN
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Pre-admission Plan
– Liaison with Patient and Carer
– Patients community supports
– Primary Care Team
– Community Special Services Team
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*(Guidelines in relation to Obtaining Consent AMNCH – Version
1/Reviewed Sept 2006 - see appendices page 34)
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Care of a Patient with Disability
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Admission
– Assess need - additional healthcare
resources
– Ensure family/carer involvement at level
they desire
– Ensure Good Communication between all
parties
 Care Delivered: according to Care Plan and
hospital / community protocols
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Care of a Patient with Disability
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Medications (?Special attention)
– Preparation
– Times
– Method of administration
– Tailored to individual patient’s
needs
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Care of a Patient with Disability
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Discharge Plan
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Patient with disability - complex discharge planning
needs
Discuss at time of admission
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Ensure involvement of
– Patient/Family/Carers/Primary care team
– Community Special needs
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Discuss appropriate referrals
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Clinical Psychology
Speech Therapy
Occupational Therapy/ Physiotherapy
Independent living
Community Health / GP/ Public Health Nurse/ Sp services
Contact name and telephone number
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Delivering the news
“…and it’s not just a sentence, every word is
important because you are hanging on to
everything they say and you will
remember every word that they say, it
sticks in your mind. They need to really
plan their sentences and their words
because this is going to stay with you for
the rest of your life.”
Parent,
Informing Families Focus Groups
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Informing Families
“ It’s the toughest part of the job really.
When you have experience you will
prioritise this, because it’s a big
priority, because it’s something that
parents remember”
Consultant Paediatrician
Informing Families Focus Groups
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Informing Families of their
Child’s Disability
National Best Practice Guidelines
Guiding Principles
Best Practice Recommendations
National Federation of Voluntary Bodies
www.fedvol.ie
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What is Down Syndrome?
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A common condition
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Characteristic features (120)
Always some degree of learning disability
Dr. John Langdon Down (London)1866
Prof Jerome Lejeune (Paris)1959
Present at birth
– Parents of all ages
– All social and educational levels
– All ethnic groups
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Unknown Cause
 No cure and cannot be prevented
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Down Syndrome
Chromosomal Karyotype
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Types of Down Syndrome
Types of Down Syndrome
– Trisomy 21 (95%)
• Three chromosomes 21 in every cell
– Translocation (3-5%)
• Extra part of chromosome 21 attaches to
another chromosome in every cell
– Mosaic 1-2 %
• Mixture of cells, some with an extra
chromosome 21 and others with just two.
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Epidemiology of Down Syndrome
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Incidence 1/546 live births (Eurocat 1990)
Maternal Age
15-19
20-24
25-29
30-34
35-39
40-44
45+
Risk
1 in 1,841
1 in 1,554
1 in 1,033
1 in 657
1 in 232
1 in 73
1 in 26
"The Epidemiology of Down Syndrome in the Four counties of Ireland 1981-1990" Z. Johnson et
al ‘Journal of Public Health Medicine’ Vol. 18, No. 1, pp.78-86. c Oxford University Press.
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Only 35% pregnancies survive to term (Oxford)
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Prevalence of DS in Co Galway O’Nuallain et al IMJ 2007;100:1:329-331
1/373 live births over 20 year period 1981-2000 Retrospective study
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Life Expectancy
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Life expectancy
– Survival rate from < 60% - > 95% at 1 year of age
(Hayes C., Johnson Z., 1997)
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Birth Rate
– 1 in 547 live births
(Eurocat)
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Population in Ireland
– 3,559 persons with Down Syndrome ROI
(1981 census of Mental Handicap Mulcahy M., l985)
– 24% of all persons with learning disability
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Some Clinical Features
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Low muscle tone
Head small / Neck short
Upward slant to the eyes
Wide nasal bridge
Abnormal shape of the ears
A single palmar crease with
incurved little finger
Excessive ability to extend the joints
Sandal gap between 1st and 2nd toes
Upper & Lower Jaw usually smaller
– Tongue average size
– more difficult to hold in smaller cavity
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Increased Medical Problems
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Most significant features – for medical care and
management
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Cardiac
Growth
Thyroid disorders - Diabetes
Gastrointestinal Tract
Hearing impairment
Visual impairment
Orthopaedic -CERVICAL SPINE INSTABILITY
Sleep Obstructive Apnoea
Speech and Language
Epilepsy
Leukaemia
Klinefelter syndrome
Alzheimer’s Disease
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Cardiac defects (n=394)
Cardiac anomalies = 45.7 %
 61 (15.5%) Innocent heart murmur
 52 (13.2%) AVSD (Atrioventricular Septal Defect)
 23 (5.9%) ASD (Atrial Septal Defect)
 21 (5.3%) VSD (Ventricular Septal Defect)
 19 (4.8%) PDA (Patent Ductus Arteriosus)
 9 (2.3%) ASD VSD
 4 (1.0%) PDA VSD
 4 (1.0%) Pulmonary Hypertension
(Monitoring Children & Adolescents with Down Syndrome 1999
Murphy Joan, Philip M., Meehan J., Harper J., Maine P., McShane D., O’Regan M.., Macken S., Roche E., Hoey HMCV)
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Growth
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Height
– 2 SD below general Irish population
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Weight
– general Irish population
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Head Circumference
– 2 SD below general Irish population
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BMI
– increased
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Age of Menarche
– general Irish population (range 9-15 years)
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Weight Results
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Age < 10 years
Girls (n=88)
Boys (n=118)
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Overweight (%)
18 (20)
22 (19)
Obesity (%)
15 (17)
25 (21)
Age > 10 years
Girls (n=86)
Boys (n=89)
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Overweight (%) Obesity (%)
14 (16)
27 (31)
14 (16)
28 (31)
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Puberty in Girls
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Age of onset of Menarche
• Mean age 12.6 yrs < general Irish
population
• Age of Menarche (Range 9 - 13.5 yrs)
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Menstruation in DS
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Regular menstruation
76%
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Average cycle (days)
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Ovulatory Cycles
88.5%
(Scola, Peuschel 1992)
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Thyroid Disease in DS
 Clinical features hypothyroidism
 lethargy
 developmental delay
 poor height
  weight
 constipation
 depression/dementia
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) features of DS
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 Clinical diagnosis unreliable
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Thyroid Disease in DS
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Increased frequency DS
– 0.7% neonates / 16.4% school children/ 22% adults
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Most common abnormality is hypothyroidism
 Both congenital and acquired
 Prevalence of thyroid disease increases with age
 Clinical features of DS can mask the presenting
signs and symptoms of hypothyroidism
 Biochemical screening for the presence of thyroid
disease in DS is necessary
 Undiagnosed hypothyroidism may result in
– preventable secondary handicap
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Gastrointestinal Tract
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Embryological and structural
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Motility and co-ordination
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Anorectal (imperforate or stenosis) 10%
Duodenal or jejunal (atresia or stenosis)
Hirschsprung Disease 2% (50% present after age 1 month)
Feeding difficulties
Constipation
Toddler diarrhoea
Gastro-oesophageal reflux (GOR)
Gall stones
Autoimmune
– Coeliac disease 4-17%
– Hepatitis
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Supporting Feeding & Oral
Development in Young Children
Guidelines for Parents
Booklet is intended as a ref 1st 2 to 3 yrs
Not expected to read it - cover to cover
Dip in & out of it as questions arise
Need guidance regarding baby’s next steps
It is not intended to replace direct
contact with multidisciplinary team
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2009
ISBN 1-890627-23-2
Dr. J. Murphy,
Paediatrics, TCD
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Hearing problems in DS
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60-85% mild to mod conductive hearing loss
Sensorineural hearing loss 10-15%
Mixed hearing loss
Progressive in nature
Social isolation and behavioural difficulties
May be misinterpreted as depression or
dementia in adults
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HEARING IMPAIRMENT
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Conductive Hearing impairment
(CHL)
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Sensory Neural Hearing Loss
(SNHL)
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Mixed Hearing Loss
(CHL+SNHL)
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Free on Web
www.ndcs.org.uk
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Visual problems
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Common in DS >50% require glasses
Refractive errors
Strabismus
Cataract
Glaucoma
Keratoconus
In older patient – high myopia(near sightedness)
Early diagnoses and treatment
Prevents Unnecessary secondary
handicap
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Orthopaedic problems
Reduced muscle tone and laxity in
ligaments
 Abnormal skeletal development
 Cervical spine instability (1%)
 Subluxation of elbow joint (0.3%)
 Patella instability
(1.5%)
 Scoliosis
(0.8%)
 Subluxation hip joints
(1.8%)
 Flat feet
(63%)
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Atlantoaxial Instability
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Normal
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Abnormal
– The odontoid
occupies the safe
zone of steel
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Cervical spine instability
Signs & Symptoms
 Pain behind the ear or elsewhere in the
neck
 Abnormal head posture
 Torticollis
 Deterioration of gait/ manipulative skills
 Reduced bowel and/or bladder control
REFER IMMEDIATELY
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Speech & Language Problems
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Speech impairment common
Receptive lanquage skills increased
Expressive language skills decreased
Linguistic area easier (vocabulary)
Grammar more difficult
No speech and Language problems unique to
children with DS.
Linked to hearing impairment (otitis media with
effusion, or fluid in the middle ear without signs
or symptoms of ear infection)
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Epilepsy in Down Syndrome
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Why do people with DS develop Epilepsy?
o Brains are smaller and more spherical
o Hypoplasia of frontal and temporal lobes
o Microscopic: altered structure of cerebral cortex
 Frequency
– Down syndrome 5-10%
– General population 0.5-1%
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Types of epilepsy
o Infantile Epilepsy (< 1 year age)
o Late Epilepsy
(grand mal 8-10%)
o Reflex Epilepsy (fits triggered by startle reaction)
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Practical management Epilepsy
Knowledge  anxieties  confidence
Treatment – common standards
Respect risks (traffic, water)
No unnecessary restrictions
Normally a favourable prognosis
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Leukaemia in DS
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Newborns – Transient leukaemia
– Condition resembles leukaemia but disappears on its own
without treatment in a few weeks or months
– ? Increased of developing leukaemia in later life
Acute Myelocytic Leukaemia – common in first 3
years of life
 Acute Lymphocytic Leukaemia – after age 3 yrs
 Treatment of AML – children with DS respond better
than children without DS
 Treatment of ALL – response rate appears to be equal
 Of those with DS who develop Leukaemia
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– 80% ALL and 20% AML
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Klinefelter syndrome in DS
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Boys with DS have an extra X chromosome
(1/100)
Relatively small testes
Will not undergo normal body development
during adolescence
Infertility
May require treatment with male sex
hormone to develop the normal physical
changes of puberty
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Management in DS
Provide Accurate information
 Breaking the news/diagnosis
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– Say this in a positive way
Remember Your first words to a family
have a Lifelong Impact
 Be the first step on the ladder to help
them achieve the positive adjustments
needed in their lives
 Focus on what can be done
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How You can Help
Always use the child’s name
 Look at Mam and Dad when
communicating
 Empathy - Try to understand what it
means to have a child with Down
syndrome or any disability
 Listen to and learn from parents
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Parents
Emotional time
 Take care of themselves
 Difficult for couples to help each other
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– Both coming to this with their own history and
value system
– Protecting each other may make it difficult to
express their true feelings
It’s OK if they don’t feel those feelings
 It’s the ‘Down Syndrome’ that they are
having the problem with --Not their baby
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Rights of People with Disabilities
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Individuels
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Families
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Dignity
Inclusion
Normalisation
Self-determination
Quality of Life
The family is the base of integration
The needs of the family itself need to be met
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People with DS can Achieve
Walk/Dance/Skate
 Talk/Read/Write
 Ride a bicycle
 Photography
 Swimming/Horse riding
 Gymnastics
 Computers
 Work
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 Marry/haveDr.partner
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How many here have
International Gold Medals?
Gold medalist
Swimmers
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Guidelines for using Growth Charts
Preterm babies
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Insufficient data to compile preterm centiles
If < 37 weeks do no plot until reach EDD, and adjust for
prematurity for first year
If > 37 weeks plot as for chronological age
Underweight
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Babies below 2nd centile likely to have significant feeding
difficulties or pathology and need further assessment
Overweight
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Charts reflect the level of obesity in the current population NOT
the standard to be aimed for
If weight >75th centile calculate and chart BMI
If weight >98th centile on BMI needs further assessment
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New Information sources
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People with Learning Disabilities: Guide for
Health Professionals (Corbett, 2007)
– John Wiley & Son Ltd, Chichester
– ISBN 13 978 0 470 01986 3 W: www.wileycom
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Behaviour Self (Dave Hingsburger)
– Diverse City Press Inc.
– ISBN 1 896230 06 7
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Black Ink (Dave Hingsburger)
– Practical advice & Clear Guidelines of Dealing with
reports of Sexual Abuse from People with
Intellectual Disabilities
– ISBN 1 896230 30 X
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Handbook of Mental Health care for persons
with developmental disability (Ruth Ryan MD)
– Diverse City Press Inc.
Dr. J. Murphy,
– 2009
SBN 1 896230 24 5
Paediatrics, TCD
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THANK YOU
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Contact Details
Dr. Joan Murphy PhD
Clinical/Research Nurse Specialist/Lecturer
Department of Paediatrics /TCD
Phone: 01 8963785/ Fax 3786
Mobile: 0878334916/ Bleep 7193
Email: [email protected]
Your questions are important to me
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