Management of Disability & Down Syndrome

Management of Disability &

Down Syndrome

Presented by Dr Joan MurphyDepartment of Paediatrics, TCD, 2009

2009 Dr. J. Murphy, Paediatrics, TCD 2

IntroductionAims 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


Definitions of Disability

Disorder

Impairment

Disability

Handicap


Definitions of Disability (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)


Children with Disability Physical/ Sensory/Cognitive/Social Attention Deficit Hyperactivity Disorder

(ADHD) Autism Cerebral Palsy Down syndrome Visually/Hearing impaired Unlabelled (fine motor/gross motor)


Key to Care of Child in Hospital

Age of child Trust Family centred care Commitment Involvement Time


Child Groups Definition

Infancy (learning to trust/ vital bonding)

Toddler ( ability to control their bodies) Early childhood (strong imagination)

Middle childhood ( sense of competence)

Adolescence (rapid physical and emotional changes )Greatest risk by hospitalization


Family Centred Care based on principles

Make Rights and well being of child your priority View Parents key to child’s health & well beingView parents as experts for their childSupport parents as individualsFacilitate access to supportsBuild on what is thereDevelop a partnership approachWork on interagency & interdepartmental basisPlan in a locally responsive way


How to make it work

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)


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


Working in a Paediatric arena Communication

– verbal/ signing/ writing/ none? Consent Sedation - suitability / previous experience Psychosocial impacts

– Child– Family

Recovery & Many Future visits


Care of a Patient with Disability Informed consent *

– Parent(s) Child/Adolescent– Community liaison Nurse/ RMHN

Pre-admission Plan– Liaison with Patient and Carer– Patients community supports– Primary Care Team– Community Special Services Team

*(Guidelines in relation to Obtaining Consent AMNCH – Version 1/Reviewed Sept 2006 - see appendices page 34)


Care of a Patient with Disability 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


Care of a Patient with Disability

Medications (?Special attention)

– Preparation

– Times

– Method of administration

– Tailored to individual patient’s needs


Care of a Patient with Disability Discharge Plan Patient with disability - complex discharge planning

needs Discuss at time of admission Ensure involvement of

– Patient/Family/Carers/Primary care team– Community Special needs

Discuss appropriate referrals– Clinical Psychology– Speech Therapy – Occupational Therapy/ Physiotherapy– Independent living– Community Health / GP/ Public Health Nurse/ Sp services

Contact name and telephone number

Dr. J. Murphy, Paediatrics, TCD

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

162009


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

172009


Informing Families of their Child’s Disability

National Best Practice Guidelines

Guiding Principles

Best Practice Recommendations

National Federation of Voluntary Bodies www.fedvol.ie

182009


What is Down Syndrome? A common condition

– 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

Unknown Cause No cure and cannot be prevented


Down Syndrome Chromosomal Karyotype


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.


Epidemiology of Down Syndrome Incidence 1/546 live births (Eurocat 1990)

Maternal Age Risk15-19 1 in 1,84120-24 1 in 1,55425-29 1 in 1,03330-34 1 in 65735-39 1 in 23240-44 1 in 7345+ 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.

Only 35% pregnancies survive to term (Oxford)

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


Life Expectancy

Life expectancy– Survival rate from < 60% - > 95% at 1 year of age (Hayes C., Johnson Z., 1997)

Birth Rate– 1 in 547 live births (Eurocat)

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

2009 Dr. J. Murphy, Paediatrics, TCD

Some Clinical Features 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


Increased Medical Problems Most significant features – for medical care and

management– 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


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 1999Murphy Joan, Philip M., Meehan J., Harper J., Maine P., McShane D., O’Regan M.., Macken S., Roche E., Hoey HMCV)


Growth Height

– 2 SD below general Irish population

Weight – general Irish population

Head Circumference – 2 SD below general Irish population

BMI – increased

Age of Menarche – general Irish population (range 9-15 years)


Weight Results Age < 10 years

Overweight (%) Obesity (%)Girls (n=88) 18 (20) 15 (17)Boys (n=118) 22 (19) 25 (21)

Age > 10 years Overweight (%) Obesity (%)

Girls (n=86) 14 (16) 27 (31)Boys (n=89) 14 (16) 28 (31)


Puberty in Girls

Age of onset of Menarche

• Mean age 12.6 yrs < general Irish population

• Age of Menarche (Range 9 - 13.5 yrs)


Menstruation in DS

Regular menstruation 76%

Average cycle (days) 28

Ovulatory Cycles 88.5% (Scola, Peuschel

1992)


Thyroid Disease in DS

Clinical features hypothyroidism lethargy ) developmental delay ) poor height ) overlap with clinical weight ) features of DS constipation ) depression/dementia )

Clinical diagnosis unreliable


Thyroid Disease in DS Increased frequency DS

– 0.7% neonates / 16.4% school children/ 22% adults

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


Gastrointestinal Tract Embryological and structural

– Anorectal (imperforate or stenosis) 10%

– Duodenal or jejunal (atresia or stenosis)

– Hirschsprung Disease 2% (50% present after age 1 month)

Motility and co-ordination– Feeding difficulties

– Constipation

– Toddler diarrhoea

– Gastro-oesophageal reflux (GOR)

– Gall stones

Autoimmune– Coeliac disease 4-17%

– Hepatitis


Supporting Feeding & Oral Development in Young Children

Guidelines for ParentsBooklet 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

2009 Dr. J. Murphy, Paediatrics, TCD 35ISBN 1-890627-23-2


Hearing problems in DS

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


HEARING IMPAIRMENT

Hearing Loss

Conductive Mixed Sensorineural

Outer ear

Middle ear

Inner ear

Pappas 1985

Hearing Loss


Hearing Loss


Outer ear

Middle ear

Inner ear

Pappas 1985

Conductive Hearing impairment (CHL)

Sensory Neural Hearing Loss (SNHL)

Mixed Hearing Loss (CHL+SNHL)


Free on Web

www.ndcs.org.uk


Visual problems 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


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%)



Atlantoaxial Instability

Normal

Abnormal– The odontoid

occupies the safe zone of steel


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


Speech & Language Problems 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)


Epilepsy in Down Syndrome Why do people with DS develop Epilepsy?

o Brains are smaller and more sphericalo Hypoplasia of frontal and temporal lobeso Microscopic: altered structure of cerebral cortex

Frequency – Down syndrome 5-10%– General population 0.5-1%

Types of epilepsyo Infantile Epilepsy (< 1 year age)o Late Epilepsy (grand mal 8-10%) o Reflex Epilepsy (fits triggered by startle reaction)


Practical management Epilepsy

Knowledge anxieties confidence Treatment – common standards Respect risks (traffic, water) No unnecessary restrictions Normally a favourable prognosis


Leukaemia in DS 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

– 80% ALL and 20% AML


Klinefelter syndrome in DS

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


Management in DS Provide Accurate information Breaking the news/diagnosis

– 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


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


Parents Emotional time Take care of themselves Difficult for couples to help each other

– 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


Individuels– Dignity– Inclusion– Normalisation– Self-determination– Quality of Life

Families– The family is the base of integration– The needs of the family itself need to be met

Rights of People with Disabilities



2009 Dr. J. Murphy, Paediatrics, TCD

People with DS can Achieve

Walk/Dance/Skate Talk/Read/Write Ride a bicycle Photography Swimming/Horse riding Gymnastics Computers Work Marry/have partner


How many here have International Gold Medals?

Gold medalist Swimmers


Guidelines for using Growth ChartsPreterm babies 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 Babies below 2nd centile likely to have significant feeding

difficulties or pathology and need further assessment

Overweight 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


New Information sources 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

Behaviour Self (Dave Hingsburger)– Diverse City Press Inc.– ISBN 1 896230 06 7

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 Handbook of Mental Health care for persons

with developmental disability (Ruth Ryan MD)– Diverse City Press Inc.– SBN 1 896230 24 5


THANK YOU


Contact DetailsDr. Joan Murphy PhD

Clinical/Research Nurse Specialist/LecturerDepartment of Paediatrics /TCDPhone: 01 8963785/ Fax 3786

Mobile: 0878334916/ Bleep 7193Email: [email protected]

Your questions are important to me

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Management of Disability & Down Syndrome