Promoting

Health and Well-being for Children

with Down Syndrome
Babies 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 malformations Gastrointestinal congenital malformations

cor pulmonale gastro-oesophagal reflux
acquired valvular dysfunction Hirschprung’s disease

Orthopaedic cervical spine instability Immunological immunodeficiency

hip subluxation/dislocation autoimmune diseases e.g.
patellar instability arthropathy, vitiglio, alopecia
scoliosis
metatarsus varus, pes planus Haematological transient neonatal
myeloproliferative states
ENT conductive hearing loss leukaemia
sensorineural hearing loss neonatal polycythaemia
upper airway obstruction
chronic catttarh Dermatological dry skin
folliculitis
Endocrine growth retardation vitiglio
hypothyroidism alopecia
hyperthyroidism
diabetes Neuropsychiatric infantile spasms and other
myoclonic epilepsies
Opthalmic refractive errors autism
blepharitis depressive illness
nasolacrimal obstruction dementia (adults only)
cataracts
glaucoma
nystagmus
squint
keratoconus
 Newborn period

• Congenital heart disease

• Gastrointestinal problems
• Cataracts
• Transient Abnormal
Myelopoeisis
• Prolonged jaundice
• Poor feeding
• Slow weight gain
 Health Issues in childhood
• Hearing • Autoimmune
• Vision disorders
• Gastrointestinal – diabetes
problems – Thyroid
– Reflux disorder
– Constipation – Vitiligo
• Coeliac disease – Alopecia
• Sleep disordered
breathing • Haematological
disorders
• Infections
• Epilepsy • Cervical spine
instability
– Infantile spasms
 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 to 18 months to 3 - 3½
6 - 10 months 12 months 4 - 4½ years
6 weeks 2½ years years

Thyroid Thyroid
blood tests blood tests
Thyroid Routine Guthrie test
including including
blood tests antibodies antibodies

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

Length and weight should be checked frequently

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

Orthoptic
Visual Visual examination, Visual acuity,
Visual behaviour.
behaviour. behaviour. refraction and refraction and
Eye check Check for congenital
Check for Check for ophthalmic ophthalmic
cataract
squint squint. examination. examination

Full
audiological
Hearing Neonatal screening, review Full audiological review
check if locally available (hearing, (hearing, impedance, otoscopy) annually
impedance,
otoscopy)

Heart Echocardiogram 0-6

check and weeks or chest X-
dental advice
other ray & ECG at birth
advice and 6 weeks
 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
DSMIG Guidelines for basic
essential medical surveillance

Aim to ensure:

Equitable provision of basic essential

medical surveillance for all children
with Down syndrome in the UK and the
Republic of Ireland
 DSMIG Guidelines for basic
essential medical surveillance

• Cardiac
• Vision
• Hearing
• Cervical spine instability
• Thyroid disorder
• Growth
 BASIC MEDICAL SURVEILLANCE ESSENTIALS
FOR PEOPLE WITH DOWN SYNDROME.

CARDIAC DISEASE

One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group
Revised 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 Examination CXR ECG CXR + ECG

200 78 60 34 30
100% 39% 30% 17% 15%
DSMIG Guidelines for basic essential
medical surveillance Cardiac

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
• 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 ESSENTIALS
FOR 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 Essentials
Key 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 ESSENTIALS
FOR 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 efficacy

non invasive
future ?

Surgical invasive
difficult
results disappointing (59% complications av.3 redo’s)

Hearing aids non invasive

good results
Dilation 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 • Autoimmune
• Vision disorders
• Gastrointestinal – diabetes
problems – Thyroid
– Reflux disorder
– Constipation – Vitiligo
• Coeliac disease – Alopecia
• Sleep disordered
breathing • Haematological
disorders
• Infections
• Epilepsy • Cervical spine
instability
– Infantile spasms
 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 Diagnosis DS made at birth
DS

Information/counselli Initial Visit by DS team ASAP

ng

Home visit with HV at approx 2/52

Pregnancy Pregnancy
terminated continued
Follow –up arrangements agreed
Following Nottingham Guidelines for
Management of Children with DS

Follow up at Follow up Follow up Follow up

Nottingham Down’s syndrome community Hospital GP
Children’s Clinic paediatrics Paediatrics
Reviews at
Birth ( postnatal ward or baby unit)
2-4 weeks (home visit)
3months
6 months
1 year
2 years
3 years
4 years
5 years
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 of
Children with Down Syndrome
Neonatal
Diagnosis 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 of
Children with Down Syndrome
Neonatal
Investigations
• Chromosomes
• Full blood count
• Thyroid screen: Routine newborn screen is satisfactory,
• Cardiac assessment
• Echocardiogram or ECG and pre- and post-ductal O2
• Neonatal hearing screen
Referrals/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 of
Children with Down Syndrome
One Year Review
Discussion
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 of
Children 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.
-