Medical Management of Children with Down Syndrome - PowerPoint Presentation

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Medical Management of Children with Down Syndrome

Liz MarderTrent Regional BACCH 2014

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What is the role of the doctor?Help make initial diagnosis

Give information about Down syndrome Screen for likely medical problems Appropriate diagnosis of medical problems that arise Treat treatable problems Manage symptoms for all other problems

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Why do we need to consider medical problems in Down syndrome?Congenital abnormalities more common

Acquired medical problems more likelyLearning disability may make it less likely for individual to recognise or complain of symptomsSome symptoms assumed to be “part of the syndrome” and left untreated

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Medical Problems More Common in People with Down Syndrome

Cardiac congenital malformations

cor

pulmonale

acquired

valvular

dysfunction

Orthopaedic cervical spine instability hip subluxation/dislocation patellar instability scoliosis metatarsus varus, pes planus ENT conductive hearing loss sensorineural hearing loss upper airway obstruction chronic catttarhEndocrine growth retardation hypothyroidism hyperthyroidism diabetesOpthalmic refractive errors blepharitis nasolacrimal obstruction cataracts glaucoma nystagmus squint keratoconus

Gastrointestinal congenital malformations

gastro-

oesophagal

reflux

Hirschprung

’

s disease

Immunological immunodeficiency

autoimmune diseases e.g.

arthropathy

,

vitiglio

, alopecia

Haematological transient neonatal

myeloproliferative

states

leukaemia

neonatal polycythaemia

Dermatological dry skin

folliculitis

vitiglio

alopecia

Neuropsychiatric infantile spasms and other

myoclonic epilepsies

autism

depressive illness

dementia (adults only)

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Role in Neonatal period Sharing diagnosisClinical assessmemtConfirm karyotype – Rapid Fish

Information for parentsAetiology/ recurrence riskPossible health concernsLikely developmental problemsLong term prognosisLocal resourcesMedical assessment

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Neonatal ProblemsCongenital heart diseaseGastrointestinal problemsCataracts

Transient Abnormal MyelopoeisisProlonged jaundicePoor feedingSlow weight gain

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Role in ChildhoodRegular medical review – at least annualSurveillance for common medical problems

Assessment and management of problems that present clinicallyReferral to specialists as requiredDevelopmental reviewReferrals for EducationTherapy Social careCoordination of the MDT

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Health Issues in childhoodHearing

VisionGastrointestinal problemsRefluxConstipationCoeliac diseaseObstructive sleep apnoea InfectionsEpilepsyInfantile spasmsAutoimmune disordersdiabetesThyroid disorderVitiligoAlopecia

Haematological disorders

Cervical spine instability

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Role in AdolescenceAs for role in children but alsoFocus on specific health issues of growth , puberty , sexualityPromote young persons understanding of health issues

Promote independence and self managementTransition to adult servicesReferral to GP for annual health checksReferral to specialists as required

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Health Problems in later lifeHearing ThyroidAutoimmune disorder

Mental health problemsFertility DementiaAverage life expectancy now around 60

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Resources to support carePCHR InsertEarly support programme materialsDSMIG guidelines

Other guidelines- AAP, EDSS,RCPCH Service specification for Children with Down syndrome DSA adult health book

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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's syndrome in the UK and Republic of Ireland.

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About DSMIG (UK)Over 180 members, all health professionals

Mainly UK and Republic of IrelandMainly paediatriciansTwice yearly members meetingsOccasional larger meetingsInformation ServiceIndividual queriesDatabase of specialistsReference libraryWebsite www.dsmig.org.uk

Evidence based surveillance guidelines

PCHR Insert

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Aim to ensure:

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

DSMIG Guidelines for basic essential medical surveillance

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DSMIG Guidelines for basic essential medical surveillance

Guideline

Date revised

Vision

2012

growth

2012

Cervical spine disorder

2012

thyroid2011cardiac2007 Rvw plannedHearing2014neonatalNew In processSleep disordered breathingNew planned

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PCHR Insert for babies born with Down

’

s syndrome

Areas covered are:

General information re DS

expected developmental progress

possible health problems

suggested schedule of health checks

advice re immunisation, feeding and growthDown’s specific growth chartsSources of additional help and advice

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Down syndrome. Suggested schedule of essential health checks adapted from PCHR insert for babies with Down syndrome

Birth – 6 weeks

Special checks under 2 years

Preschool checks

School age

Thyroid

Routine TSH capillary dry- blood spot test

From age 1 year thyroid function should be discussed annually using results of either

Annual fingerpick TSH test OR

2 yearly venous thyroid blood tests, including thyroid antibodies

Vision

Congenital cataract check.

Age 18-24 months:

Formal ophthalmic examination including refraction

Age 4 years: Formal ophthalmic examination including refraction, near and distant vision

Repeat vision test every 2 years, or more frequently if recommended by optometrist/ ophthalmologist

Visual behaviour to be monitored at every review particularly in first year

Hearing

Universal newborn hearing screen

Full audiological review by 10 months - hearing test, otoscopy and tympanometry

Annual audiological review as before

2 yearly audiological review

Growth

Length, weight and head circumference should be checked frequently and plotted on Down Syndrome growth charts

Height and weight should be checked and plotted on Down Syndrome growth charts at least annually while growing.

(BMI plotted if concern regarding obesity)

Cardiac

Cardiac status and action plan established by 6 weeks (see text)

Maintain low threshold for reappraisal of cardiac status at any time

Heart auscultation for acquired heart disease, as part of routine health checks from adolescence onwards

Sleep Related Breathing Disorders

Enquire at every review. Low threshold for sleep studies (see text)

Haematology

FBC to check for TMD (see text)

If TMD, vigilance until age 5

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DSA medical seriesA series of leaflets produced by the Down's Syndrome Association for parents,carers and healthcare professionals

www.dsa-uk.com Jointly produced with DSMIGGastrointestinal problemsSleepDiabetesEye problemsNeck instabilityThyroid disorder

epileptic spasms

Sexual health

Down syndrome and childhood deafness (with NDCS)

Others include

Ageing

Alzheimer’s

bereavement

depressionOral health careContinuing pregnancy with diagnosis of Down syndrome

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Growth ChartsUK Down syndrome growth charts – available form Harlow printingRCPCH/DSMIG advice sheet www.dsmig.org.uk

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN’ SYNDROME.

CERVICAL SPINE DISORDERSOne of a set of guidelines drawn up by the DSMIGRevised 2012

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

Cervical Spine DisordersIntroduction/Background Information Imperative Warning Signs of CSD are acted on expedientlySymptomatic - any warning signs require investigationAsymptomatic – no evidence to support screeningAnaesthesia – history /exam prior to GAAsymptomatic children should not be barred from normal sporting activities

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Introduction

People with DS are at risk for acute or chronic neurological problems caused by cervical spine disorderMay present at any ageIn childhood incidence is low - craniovertebral instability predominant Risk of other problems increase with age - chronic spinal cord compression due to premature degenerative changes

Good outcome for surgical fusion of symptomatic CVI

with

timely intervention,

using current surgical techniques,

in experienced centres

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In Children-

“Craniovertebral instability” - craniovertebral junctionReflect complex set of joints, muscles, ligaments that allow for articulation between skull and cervical spine And Because Most movement between atlas and axis - atlantoaxial subluxation (AAI)

Also

between occiput and atlas – occipital-atlanto subluxation

Underlying problem

is ligamentous laxity and hypotonia

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Imperative Warning Signs of CSD are acted on expediently

Neck pain,Abnormal head posture, Torticollis, (Wry neck)Reduced neck movements, Deterioration of gait and/or frequent falls

Increasing fatigability on walking,

Deterioration of manipulative skills

Above symptomatology in adult life may be falsely attributed to Alzheimer disease or other progressive cerebral deterioration

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Symptomatic - any warning signs

RequireGood quality flexion and extension cervical spine Xrays with good positioningFollowing this ANYONE with suspected CSD, with or without abnormal Xray, should be referred to a specialist centre. Note- cannot be prescriptive about measurements- Myelopathy may be present with normal Xray

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Asymptomatic screening ?No evidence to support routine radiological screening for asymptomatic

no proven predictive validity for subsequent acute dislocation or subluxationNOTE - 30% have X-ray evidence of increased movement – very few have symptoms

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General anaesthesiaPrior to GA a careful history and examination should be undertaken with ref to warning signs

Routine pre-operative radiography is not recommended in absence of clinical concerns.Note- Need to take extra care re positioning- Extension safest position for unstable neck

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Sport

Asymptomatic children should not be barred from normal sporting activities No evidence that sport increases risk of CS injury any more than for general populationFor specialised sport eg gymnastics, children should not be automatically excluded but requirements of national governing bodies should be observedwww.british-gymnastics.org Atlanto-Axial Info Pack

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN’SYNDROME.

THYROID DISORDEROne of a set of guidelines drawn up by the Down Syndrome Medical Interest GroupWritten 2001, reviewed 2011

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Hypothyroidism in Down Syndrome

Clinical diagnosis:Classical signs may not be useful because of overlap with characteristics frequently seen in Down syndrome e.g. sluggishness feeling the cold dry skin sparse hair constipation deafness hoarse voice complaints of aches and pains

HYPOTHYROIDISM SHOULD BE CONSIDERED IN ANY PERSON WHOSE MENTAL OR PHYSICALHEALTH OR GENERAL AFFECT HAS CHANGED

WITHOUT EXPLANATION.

PARTICULARLY CONSIDER Cognitive slowing

loss of interest

physical slowing

Differential diagnosis from depression and dementia is important.

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Down Syndrome: HYPOTHYROIDISM

Neonatal: 0.7/1000 (New York State. Fort et al 1984) 6.0/1000 (Boston. Mass. Cutler et al 1984) 1.0/1000 (Australia. Selikowitz 1993) (Normal population. 1/5000)Childhood: Mean prevalence (7 studies) - 3.1%

(95% confidence 1.5 - 4.7)

(range 0 - 6%)

Oxford school age population - 10%

(Stewart 1992)

Adults:

Mean prevalence (7 studies) - 10.6%

(95% confidence 7.6 - 13.6)

(range 4.5 - 31%)

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Thyroid disease in Down Syndrome

Also need to consider:-Hyperthyroidism more common than in general populationMildly raised TSH more commonTransient raised TSH may be more common

Thyroid auto-antibodies may be raised without clinical or biochemical hypothyroidism

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THYROID DYSFUNCTIONHypothyroidism affects 10 - 20% of people with Down’s syndrome. It can occur at any age. Clinical diagnosis is difficult. Screening blood tests are essential. It can be successfully treated. If untreated it causes severe preventable handicap.Neonatal screenVenous blood screen: - T4, TSH, and thyroid antibodies checked at age 1 and thereafter every 2 years for life. If normal T4 but mildly raised TSH or antibodies check more frequently or:

 

Finger prick capillary blood screen

– annual Guthrie TSH check. All with Guthrie TSH > 10mU/l to be referred for venous sampling

Clinicians must have a low threshold for testing if clinical suspicion at any time.

Clinical pointers as in general population: lethargy and/or changes in affect, cognition growth and weight.

Differential diagnosis from depression and dementia critically important.

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWNSYNDROME.

GROWTHOne of a set of guidelines drawn up by the Down Syndrome Medical Interest GroupRevised 2012

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Prenatal -Birth weight mean 3.07 kg (-0.9sd)

Neonatal -mean time to regain birth weight 28daysInfancy -most marked growth deficiency -2.5 sd by 3 yrsChildhood -slow velocity -periods of no growth 3-6/12

Adolescence -pubertal growth spurt does occur

-obesity common but not inevitable

Adult height -male - 157 cm (5

’

1

”

)

-female - 146 cm (4’9”)Growth in Children with Down Syndrome

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Causes of Poor Growth in

Down Syndrome constitution not classic GH deficiency may be IGF1 deficiency poor intake/feeding problems heart disease

thyroid

upper airway obstruction

deprivation/neglect -institutionalised

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Basic Medical Surveillance Essentials

Key Points GROWTHShort stature is a recognised feature of most people with Down’s syndrome. Appropriate growth monitoring is essential. Those who are excessively short may have additional pathology which requires investigation and treatment. Down specific growth chats provide useful reference values for linear growth. The possibility of additional pathology should be considered for those falling in the lower centiles who do not have congenital heart disease.

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Basic Medical Surveillance Essentials

Key Points GROWTHWeight for height should be assessed using standard growth charts.Excessive weight gain is not inevitable and should always be thoroughly assessed.The use of growth hormone remains investigational and is not currently recommended.

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

CARDIAC DISEASE One of a set of guidelines drawn up by the DownSyndrome Medical Interest GroupRevised 2007

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Congenital Heart Disease in Children with Down Syndrome

40-50% children with DS AVSD 30-40% VSD 20-30% Valve defects 10-15% PDA 5-10% T.O.F 5%

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Special ConsiderationsRight to have full treatment

Defects are complexWithout surgery, increasing disability and early deathComplications tend to occur earlier - pulmonary hypertension Evidence for better outcome if surgery < 4 months

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How should we screen?

1000 newborns with Down

’

s Syndrome

200 with AVSD

NIL

CXR

CXR + ECG

ECG

Examination6030%3417%3015%200100%7839%

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Diagnostic Key PointsClinical examination alone is insufficient

Chest X Ray is not useful for diagnosing AVSDECG - superior QRS axis in AVSD Neonatal echocardiography - most effective single diagnostic procedureNeonatal echocardiography must be carried out by an appropriately trained personNot foolproof even with experts DSMIG Guidelines for basic essential medical surveillance Cardiac

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DSMIG Guidelines for basic essential medical surveillance - Cardiac

The cardiac status of every child must be established by age 6 weeksAll babies -neonatal paediatric examination +ECGIf clinical or ECG abnormalities refer for ECHO and expert assessment by 2 weeksIf no clinical or ECG abnormalities refer for ECHO and expert assessment by 6 weeksContinuing clinical vigilance

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DSMIG Guidelines for basic essential medical surveillance - CardiacLate diagnosis

immediate ECG and clinical examination then accelerated referral for ECHO and expert assessment Pre-natal diagnosisfollow neonatal pathwayOlder children with no previous ECHOno symptoms or signs + normal ECG – routine referralsymptoms and/or signs + ECG changes – urgent referralAgreed screening protocol needs to be in place

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWN SYNDROME.

HEARING IMPAIRMENTOne of a set of guidelines drawn up by the Down Syndrome Medical Interest GroupApproved by BACDA and BAAPRevision to be completed 2014

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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 ?

Acetylcysteine

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

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Basic Medical Surveillance Essentials Key points HEARING IMPAIRMENTHearing impairment can be successfully managed in the Down population but if undiagnosed is a significant cause of preventable handicap.  Neonatal screen  6-10 months

– Review for all regardless of neonatal findings:

Auditory thresholds/Impedance tests/

Otoscopy

 

Aim

– By 10 months it will have been established whether or not there is permanent hearing loss with or without OME

and

a management plan will have been 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.

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BASIC MEDICAL SURVEILLANCE ESSENTIALSFOR PEOPLE WITH DOWNSYNDROME.

OPHTHALMIC PROBLEMSOne of a set of guidelines drawn up by the Down Syndrome Medical Interest Group(Revised 2012)

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Ophthalmic Problemscataract 1 -5% neonates

squint commonrefractive errors 50% by age 4Corneal problems 5% keratoconusblepharitis 30%Nystagmus 10%

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Basic Medical Surveillance Essentials Key Points OPTHALMIC PROBLEMSRefractive errors (including hypermetropia) very common from early childhood. If untreated these are a significant cause of preventable secondary handicap. Cataract and/or glaucoma and nysatgmus may occur in infancy. Keratoconus over-represented at older stages.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 reviewThroughout life 2 yearly If pain, and/or changing vision and/or red eye, refer urgently for specialist opinion.

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Ensure that no-one suffers unnecessarily from treatable symptoms,

or fails to reach their potential because of treatable medical problems.

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www.dsmig.org.uk Down syndrome medical interest group UK and Ireland

www.down-syndrome.org.uk UK Down Syndrome association ( DSA)www.dshealth.org Annual health check information for GP’s UK DSACharleton ,Dennis and Marder, Medical management of children with Down syndrome, Paediatrics and Child Health (2013), http://dx.doi.org/10.1016/j.paed.2013.12.004 Down Syndrome – Newton , Marder

and

Puri

McKeith

Press

Publication

due

Autumn 2013

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Draft Service Specification

Children and Young People with Down Syndrome

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AimsProvide

optimal medical care for all children and young people with Down syndrome to improve physical and mental health and maximise each child’s potential

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Objectives

Improve health to ensure full participationSafe , effective, evidence based careEnsure services coordinated with educational , social and community based servicesTimely screening for conditions associated with Down syndromeCare as close to home as possibleSeamless transition of care to adult servicesMaximise young peoples understanding , autonomy

and

ability

to mange their health care

Support families in their responsibilities to enhance

child's

development

Ensure equity of access and consistency of service

Accountability and clear lines of responsibility for the service provisionPromote governance, quality improvement culture and involvement in research to assure and continue to improve the quality of care

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What is Down Syndrome?“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 1992Chromosomal disorder Trisomy 21Commonest identifiable form of Intellectual disabilityCharacteristic physical appearance

Range of associated medical problems

Congenital heart disease 40-50%

Hearing loss 75%

Gastrointestinal malformations 60%

Thyroid Disorder 10%

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Some statisticsUK birth prevalence 1.1:1000 - 775 live births in England and Wales 2012

1982 diagnoses made in 2012 including antenatal - 2.7/1000Prevalence static over last 30 years despite antenatal screening Mean life expectancy in developed countries now approx. 60 years60 000 people with Down syndrome living in UK todayIncreasing challenge for health provision

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Some more statistics

Down syndromeOther children

Hospital admission per 1000 children per year

515

31.7

Mean length of stay in days

3

1.9

Percentage

of admissions requiring intensive care80.2Unpublished Data – Nottingham 2000-2005

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Why do we need to specifically consider health care needs of children with Down Syndrome?

Congenital abnormalities more commonAcquired medical problems more likelyLearning disability may make it less likely for individual to recognise or complain of symptomsSome symptoms assumed to be “part of the syndrome” and left untreated

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Medical problems reported as more common in Down SyndromeCardiac congenital

malformations cor pulmonale acquired valvular dysfunctionOrthopaedic cervical spine instability hip subluxation/dislocation patellar instability scoliosis metatarsus varus, pes planus

ENT conductive hearing loss

sensorineural hearing loss

upper airway obstruction

chronic catarrh

Endocrine growth retardation

hypothyroidism

hyperthyroidism diabetesOphthalmic refractive errors/squint blepharitis nasolacrimal obstruction cataracts glaucoma nystagmus KeratoconusGastrointestinal congenital malformations gastro-oesophagal reflux Hirschprung’s diseaseImmunological immunodeficiency autoimmune diseases e.g. arthropathy, vitiglio, alopeciaHaematological transient neonatal myeloproliferative states leukaemia neonatal polycythaemiaDermatological dry skin folliculitis vitiglio alopeciaNeuropsychiatric infantile spasms and other myoclonic epilepsies autism depressive illness dementia (adults only)

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Core Care Pathway.1. From diagnosis to transition, all children must be under the care of a paediatrician

with expertise in Down Syndrome2.Regular review e.g. every 3 months in first year, and subsequently a minimum of once a year. 3. Specialist services commissioned for all children with Down syndrome Speech & Language Therapy, Paediatric cardiology, Paediatric ophthalmology, Paediatric audiology 4. Specialist services to be commissioned to perform assessment and management if necessary Physiotherapy, OT ,Paediatric endocrinology, paediatric surgery, ENT surgery, Dermatology , Paediatric gastroenterology ,Paediatric orthopaedic/spinal surgery ,Paediatric respiratory specialists / sleep disordered breathing service, Paediatric neurology, Sexual health service, CAMHS,Special needs dentistry5. Paediatrician and LEA local education authority work in close collaboration re early intervention and educational placements6.Administrative support to facilitate clinical service with capability for audit, governance and service improvement to maximise quality of care.

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Neonatal PeriodDisclosure

of clinical suspicion/diagnosis to parents by a senior clinicianWritten information regarding Down syndrome made available e.g. early support programme materials PCHR insert for babies born with Down syndromeDetailed neonatal examination with focus on common conditions associated with Down syndromeInvestigation prior to discharge for common neonatal problems associated with Down syndrome, including: Echocardiogram, blood count, thyroid function, karyotype, hearing screen

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Review in Children

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-

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TransitionMultiagency approach from infancy through to the transition to adult health and social services.

Formal transition plan from Children’s service to GP for allTransition to adult mental health services if necessaryTransition to specific adult specialist services as appropriate

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Provide optimal medical

care for all children and young people with Down syndrome to improve physical and mental health and maximise each child’s potential