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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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