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
cor pulmonale
acquired valvular dysfunction
Gastrointestinal
congenital malformations
gastro-oesophagal reflux
Hirschprung’s disease
Immunological
immunodeficiency
autoimmune diseases e.g.
arthropathy, vitiglio, alopecia
Haematological
conductive hearing loss
sensorineural hearing loss
upper airway obstruction
chronic catttarh
transient neonatal
myeloproliferative states
leukaemia
neonatal polycythaemia
Dermatological
growth retardation
hypothyroidism
hyperthyroidism
diabetes
dry skin
folliculitis
vitiglio
alopecia
Neuropsychiatric
infantile spasms and other
myoclonic epilepsies
autism
depressive illness
dementia (adults only)
Orthopaedic cervical spine instability
hip subluxation/dislocation
patellar instability
scoliosis
metatarsus varus, pes planus
ENT
Endocrine
Opthalmic
refractive errors
blepharitis
nasolacrimal obstruction
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
• 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 to
6 weeks
Thyroid
blood tests
6 - 10 months
12 months
18 months to
2½ years
Thyroid
blood tests
including
antibodies
Routine Guthrie test
3 - 3½
years
4 - 4½ years
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.
Visual behaviour.
Check for congenital
cataract
Visual
behaviour.
Check for
squint
Hearing
check
Neonatal screening,
if locally available
Full
audiological
review
(hearing,
impedance,
otoscopy)
Heart
check and
other
advice
Echocardiogram 0-6
weeks or chest Xray & ECG at birth
and 6 weeks
Eye check
Visual
behaviour.
Check for
squint.
Length and weight should be checked at least
annually and plotted on Down syndrome
growth charts.
Orthoptic
examination,
refraction and
ophthalmic
examination.
Visual acuity,
refraction and
ophthalmic
examination
Full audiological review
(hearing, impedance, otoscopy) annually
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
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
VSD
Valve defects
PDA
T.O.F
30-40%
20-30%
10-15%
5-10%
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
100%
78
39%
60
30%
34
17%
30
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
full opthalmological review:
orthoptic assessment
refraction
fundus examination
repeat full review
2nd year
4 years
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
tests/Otoscopy
for
all.
Auditory
thresholds/Impedance
• 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
Information/counselli
ng
Pregnancy
terminated
Pregnancy
continued
Diagnosis DS made at birth
Initial Visit by DS team ASAP
Home visit with HV at approx 2/52
Follow –up arrangements agreed
Following Nottingham Guidelines for
Management of Children with DS
Follow up at
Nottingham Down’s syndrome
Children’s Clinic
Follow up
community
paediatrics
Follow up
Hospital
Paediatrics
Follow up
GP
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.
-