Promoting Health and Well-being for Children

with Down SyndromeBabies and Young Children

Liz Marder

Trondheim 2014

In this talk I will focus on

• Why it is important to consider medical issues in People with Down syndrome

• Some of the important health issues in young children with Down syndrome

• Work in the UK to• increase awareness of these issues amongst

health professionals• provide information for parents

• Specialist service provision

“Down syndrome is not a medical condition but represents a common variation of the human form created through a

genetic accident in nature”

Richard Newton 1992

Why do we Need to Specifically Consider the Needs of Children

with Down Syndrome?• More likely to be born with anomalies

affecting function• More likely to develop a range of

medical problems• Learning disability may make it less

likely for individual to complain of symptoms

• “Diagnostic Overshadowing” symptoms assumed to be “part of the syndrome”

Promoting Health and Well being – what can a doctor

do?• Help make initial diagnosis • Give information about Down syndrome • Screen for likely medical problems • Diagnosis of medical problems that arise • Treat treatable problems • Manage symptoms for all other problems• Review development • Referrals for therapy

Ensure that no-one suffers unnecessarily from treatable symptoms,or fails to reach their potential because of treatable medical problems.

Medical Problems More Common in People with Down Syndrome

Cardiac congenital malformationscor pulmonaleacquired valvular dysfunction

Orthopaedic cervical spine instabilityhip subluxation/dislocationpatellar instabilityscoliosismetatarsus varus, pes planus

ENT conductive hearing losssensorineural hearing lossupper airway obstructionchronic catttarh

Endocrine growth retardationhypothyroidismhyperthyroidismdiabetes

Opthalmic refractive errorsblepharitisnasolacrimal obstructioncataractsglaucomanystagmussquintkeratoconus

Gastrointestinal congenital malformationsgastro-oesophagal refluxHirschprung’s disease

Immunological immunodeficiencyautoimmune diseases e.g.

arthropathy, vitiglio, alopecia

Haematological transient neonatal myeloproliferative states

leukaemianeonatal polycythaemia

Dermatological dry skinfolliculitisvitiglioalopecia

Neuropsychiatric infantile spasms and othermyoclonic epilepsiesautismdepressive illnessdementia (adults only)

Newborn period

• Congenital heart disease• Gastrointestinal problems• Cataracts• Transient Abnormal

Myelopoeisis• Prolonged jaundice• Poor feeding• Slow weight gain

Health Issues in childhood• Hearing• Vision• Gastrointestinal

problems– Reflux– Constipation

• Coeliac disease• Sleep disordered

breathing• Infections• Epilepsy

– Infantile spasms

• Autoimmune disorders– diabetes– Thyroid

disorder– Vitiligo– Alopecia

• Haematological disorders

• Cervical spine instability

How can we ensure people with Down Syndrome get appropriate

medical intervention?

• Information and training for professionals

• Information for parents, carers and people with Down syndrome

• Guidelines

• Specialist Services

How can we ensure people with Down Syndrome get appropriate

medical intervention?

• Information and training for professionals

• Information for parents, carers and people with Down syndrome

• Guidelines

• Specialist Services

The Down Syndrome Medical Interest Group

(UK) is a group of health

professionals whose aim is to ensure equitable provision of medical care for all people with Down syndrome in the UK and Republic of Ireland.

About DSMIG (UK)• Over 150 members, all health professionals

• Mainly UK and Republic of Ireland• Mainly paediatricians

• Twice yearly members meetings• Occasional larger meetings• Information Service

• Individual queries• Database of specialists• Reference library

• Website www.dsmig.org.uk • Evidence based surveillance guidelines • PCHR Insert

www.dsmig.org.uk

• Medical Library• Index of medical information developed specifically by DSMIG

and key articles and resources from other sources.• DSMIG Information Resources

• PCHR insert• Growth charts• Guidelines for basic essential medical surveillance• Clinical awareness notes• Keypoint summaries • Conference papers

• Book reviews by DSMIG experts• Resources Suitable for Parents & Carers

• Identified throughout by “parent-friendly” icon

• Full Information on DSMIG Activities• Secure Members Area

• Membership list• Summary papers and information from DSMIG scientific

meetings

How can we ensure people with Down Syndrome get appropriate

medical intervention?

• Information and training for professionals

• Information for parents, carers and people with Down syndrome

• Guidelines

• Specialist Services

Parent Resources

PCHR Insert for Babies Born with Down Syndrome

Areas covered are:

• General information re Down syndrome

• expected developmental progress

• possible health problems

• suggested schedule of health checks

• advice re immunisation, feeding and growth

• Down syndrome specific growth charts

• Sources of additional help and advice

The following are suggested ages for health checks. Check at any other time if there are parental or other concerns

 Birth to6 weeks

6 - 10 months 12 months18 months to

2½ years3 - 3½ years

4 - 4½ years

Thyroid blood tests

Routine Guthrie test  

Thyroid blood tests including antibodies

 

Thyroid blood tests including antibodies

 

If your area has introduced fingerprick blood tests these should be done every year

Growth monitoring

Length and weight should be checked frequently and plotted on Down syndrome growth charts. (see page 9 onwards)Head circumference should be checked at each routine medical check.

Length and weight should be checked at least annually and plotted on Down syndrome growth charts.

Eye checkVisual behaviour.Check for congenital cataract

Visual behaviour.Check for squint

Visual behaviour.Check for squint.

Orthoptic examination, refraction and ophthalmic examination.

 

Visual acuity, refraction and ophthalmic examination

Hearing check

Neonatal screening, if locally available

Full audiological review (hearing, impedance, otoscopy)

Full audiological review(hearing, impedance, otoscopy) annually

Heart check and other advice

Echocardiogram 0-6 weeks or chest X-ray & ECG at birth and 6 weeks

    dental advice    

How can we ensure people with Down Syndrome get appropriate

medical intervention?

• Information and training for professionals

• Information for parents, carers and people with Down syndrome

• Guidelines

• Specialist Services

Aim to ensure:

Equitable provision of basic essential medical surveillance for all childrenwith Down syndrome in the UK and the Republic of Ireland

DSMIG Guidelines for basic essential medical surveillance

DSMIG Guidelines for basic essential medical

surveillance• Cardiac• Vision• Hearing• Cervical spine instability• Thyroid disorder• Growth

BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

CARDIAC DISEASE

One of a set of guidelines drawn up by the Down Syndrome Medical Interest GroupRevised 2007

Congenital Heart Disease in Children with Down

Syndrome

40-50% children with Down syndrome

AVSD 30-40%VSD 20-30%

Valve defects 10-15%

PDA 5-10%

T.O.F 5%

The normal heart

AVSD

Special Considerations

• Right to have full treatment

• Defects are complex

• Without surgery, increasing disability and decreased life expectancy

• Complications tend to occur earlier (pulmonary hypertension )

• Evidence for better outcome if surgery < 4 months

How should we screen for congenital heart disease?

1000 newborns with Down’s Syndrome

200 with AVSD

NIL CXR CXR + ECGECGExamination

6030%

3417%

3015%

200100%

7839%

Diagnostic Key Points

• Clinical examination alone is insufficient

• Chest X Ray is not useful for diagnosing AVSD

• ECG - superior QRS axis in AVSD • Neonatal echocardiography - most effective single

diagnostic procedure

• Neonatal echocardiography must be carried out by an appropriately trained person

• Not foolproof even with experts

DSMIG Guidelines for basic essential medical surveillance Cardiac

DSMIG Guidelines for basic essential medical surveillance - Cardiac

• The cardiac status of every child must be established by age 6 weeks

• All babies -neonatal paediatric examination +ECG

• If clinical or ECG abnormalities refer for ECHO and expert assessment by 2 weeks

• If no clinical or ECG abnormalities refer for ECHO and expert assessment by 6 weeks

• Continuing clinical vigilance

DSMIG Guidelines for basic essential medical surveillance Cardiac

• Late diagnosis– immediate ECG and clinical examination then accelerated

referral for ECHO and expert assessment

• Pre-natal diagnosis– follow neonatal pathway

• Older children with no previous ECHO– no symptoms or signs + normal ECG – routine referral– symptoms and/or signs + ECG changes – urgent

referral

• Agreed screening protocol needs to be in place

BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

OPHTHALMIC PROBLEMS

One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group

(Revised 2012)

Ophthalmic Problems

cataract 1 -5% neonates

squint common

refractive errors 50% by age 4

Corneal problems 5% keratoconus

blepharitis 30%

Nystagmus 10%

Basic Medical Surveillance EssentialsKey Points OPTHALMIC PROBLEMS

• Refractive errors (inc. hypermetropia) common from early childhood

• significant cause of preventable secondary handicap• Cataract , glaucoma and nysatgmus may occur in infancy• Keratoconus common in adults

Newborn check for cataract.

1st year visual behaviour to be monitored by a paediatrician. Refer any concern including squint

2nd year full opthalmological review: orthoptic assessment refraction fundus examination

4 years repeat full review

Throughout life 2 yearly

If pain, and/or changing vision and/or red eye, refer urgently for specialist opinion.

BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

HEARING IMPAIRMENT

One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group(Updated 2007)

Hearing Problems in Children with Down Syndrome

Common problem > 50% conductive ~20% sensorineural

(55% adults)

Important language development difficulties with auditory processing“double handicap”

social isolation

Treatment Medical no hard evidence of efficacynon invasivefuture ?

Surgical invasivedifficultresults disappointing

(59% complications av.3 redo’s)

Hearing aids non invasivegood resultsDilation of EAM by mould

may facilitate surgery

Basic Medical Surveillance Essentials

Hearing Screening protocol

• Neonatal screen

• 6-10 months – Review for all regardless of neonatal findings:Auditory thresholds/Impedance tests/Otoscopy

• By 10 months established whether or not there is hearing loss, a management plan agreed and intervention instigated where necessary

 • 15-18 months-Review for all. Auditory thresholds/Impedance

tests/Otoscopy • 2-5 years - Annual review as above.

•  Thereafter 2 yearly for life, or more often if there are problems.

Newborn period

• Congenital heart disease• Gastrointestinal problems• Cataracts• Transient Abnormal

Myelopoeisis• Prolonged jaundice• Poor feeding• Slow weight gain

Health Issues in childhood• Hearing• Vision• Gastrointestinal

problems– Reflux– Constipation

• Coeliac disease• Sleep disordered

breathing• Infections• Epilepsy

– Infantile spasms

• Autoimmune disorders– diabetes– Thyroid

disorder– Vitiligo– Alopecia

• Haematological disorders

• Cervical spine instability

How can we ensure people with Down Syndrome get appropriate

medical intervention?

• Information and training for professionals

• Information for parents, carers and people with Down syndrome

• Guidelines

• Specialist Services

Nottingham Down syndrome Children’s service

Antenatal diagnosis DS

Home visit with HV at approx 2/52

Information/counselling

Pregnancy terminated

Pregnancy continued

Diagnosis DS made at birth

Initial Visit by DS team ASAP

Follow –up arrangements agreedFollowing Nottingham Guidelines for Management of Children with DS

Follow up at Nottingham Down’s syndrome Children’s Clinic

Follow up community paediatrics

Follow upHospital Paediatrics

Follow up GP

Reviews atBirth ( postnatal ward or baby unit)2-4 weeks (home visit)3months6 months1 year2 years3 years 4 years5 years

Nottingham Down syndrome Children’s service

Nottingham Down Syndrome Children’s Service

Initial Visits • Paediatrician from Down syndrome

team• NNU/Postnatal ward or home• Information re: DS and local services• Welcome Pack- DSA leaflets, PCHR

insert, invitations to clinic• Parents Book• Videos re: coming to terms• Agree follow up plan

Nottingham Down Syndrome Children’s clinic

• Child Development centre• First Wed morning each month• Drop – in• Information office/library• Children seen at 3,6 12 months and then

annually• Formal review of each child at 3 years with

Team around the Child meeting

Nottingham Down Syndrome Children’s clinic

• Staff – Doctors

• Paediatricians• Specialists e.g.immunologist, cardiologist

– Nurses– Playteam– Physio– SALT– Dentist available

• Links with– Eye clinics– CHAC(hearing)– Welfare Rights advice

Nottingham Guidelines for the Management ofChildren with Down Syndrome

NeonatalDiagnosis and Disclosure• Parents told as soon as possible, by a Senior

Paediatrician • Don’t delay for chromosome confirmation• Down syndrome service team involved

Medical History and Examination• Routine neonatal examination • particular attention to conditions common in Down

Syndrome – bowel atresias– Hirschprung’s– Cardiac defects– cataracts

Nottingham Guidelines for the Management ofChildren with Down Syndrome

NeonatalInvestigations• Chromosomes• Full blood count• Thyroid screen: Routine newborn screen is

satisfactory, • Cardiac assessment• Echocardiogram or ECG and pre- and post-ductal O2 • Neonatal hearing screenReferrals/notifications to be arranged by neonatal team• Primary Care team (GP and Health Visitor)• Community Midwife• Obstetrician• Down Syndrome Team

Nottingham Guidelines for the Management ofChildren with Down Syndrome

One Year ReviewDiscussion Parental concerns Developmental progress General health- respiratory, cardiac, or bowel symptoms Any unusual or recurrent infections Sleep-related upper airway obstruction Behaviour Therapy and educational input DLA and other benefits Cervical spine / atlanto-axial instability -information leaflet Discuss immunisation routine plus annual

influenza vaccine

Nottingham Guidelines for the Management ofChildren with Down Syndrome

One Year Review

General physical examination but focus on Growth - Plot on the Down Syndrome charts Cardiovascular Neurological ENT Eyes

Investigations Audiological assessment Thyroid function tests Immune function ( at least 4 weeks after completion of primary immunisation course)

Ensure that no-one suffers unnecessarily from treatable symptoms,or fails to reach their potential because of treatable medical problems.

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