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Down syndrome –  Health Surveillance & Screening Down syndrome –  Health Surveillance & Screening

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Down syndrome – Health Surveillance & Screening - PPT Presentation

Richard Newton Royal Manchester Childrens Hospital Dr Patricia D Jackson EDINBURGH HEARING Hearing Problems in Children with Downs Syndrome Common problem gt 50 conductive loss gt40db ID: 914396

disease syndrome age children syndrome disease children age population tsh risk general screening thyroid treatment common problems clinical prevalence

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Slide1

Down syndrome –

Health Surveillance & Screening

Richard NewtonRoyal Manchester Children’s Hospital

Slide2

Dr Patricia D. Jackson

EDINBURGH

Slide3

Slide4

HEARING

Slide5

Hearing Problems in Children

with Down’s SyndromeCommon

problem > 50% conductive loss >40db ~20%

sensorineural Freqency

increases with age (55% adults) (Neonatal screening in UK suggests 6% incidence of

sensorineural at birth NB up to 60% may be unilateral (Barr et al 2011, Park 2012).

Important

language development difficulties with auditory processing

“double handicap” social isolation

Treatment

Medical- non invasive Good basic ear hygiene and wax clearance

No hard evidence of efficacy of medications

Trials of antihistamines, steroids , mucolytics,

acetylcysteine ,milk free diets.

Recent interest in role of G-I reflux as a cause

Surgical

-invasive

difficult

, results are

disappointing (59% complications av.3 redo’s

)

Hearing aids

non invasive

good

results, tolerated especially BAHA Soft band.

Dilation of EAM by mould may facilitate surgery

Appropriate educational support and use of sign language to augment hearing

Slide6

Slide7

Slide8

Assessing Hearing

Dependent on age and ability of the child to co-operate. Use developmentally appropriate tests and treatments.Always ask Parents and those working with the child their observations.

Check ears for local discharge, infection, excessive waxReview previous information about hearing tests.A multiagency approach to include: education,

social work, audiology, speech and language therapist

Keep the parent and child central, and informed

Slide9

Basic Medical Surveillance Essentials

Key points HEARING IMPAIRMENT

Hearing impairment can be successfully managed in people with Down syndrome but if undiagnosed is a significant cause of preventable handicap.

 

Neonatal screen –Echo hearing screening test- if abnormal refer to Audiology/ ENT

 

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.

Easy access to testing if parents concerned about persisting loss (>3weeks)is strongly recommended.

 

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

concerns.

Slide10

Slide11

VISION Ophthalmic issues

Slide12

Ophthalmic Problems

cataract 1 -5% neonates

squint commonrefractive errors 60% by age 7

Corneal problems 5% keratoconus

blepharitis

Nystagmus

Naso-lacrimal

duct blockage

Slide13

Recent interest in problems of accommodation for young children with

Down SyndromeFailure of

emmetropisationImage focussed in front or behind retina leading to blurred vision( try the polythene test

)Children may benefit from wearing bifocal spectacles.

Slide14

Key Points OPTHALMIC PROBLEMS

Refractive errors (including

hypermetropia) very common from early childhood. If untreated these are a significant cause of preventable secondary handicap. The ‘watching and waiting’ approach appropriate for

typical children with refractive errors, who are likely to outgrow them, is not appropriate for Down Syndrome children.

Cataract

and/or glaucoma may occur in

infancy, as well as developing later.

Keratoconus

over-represented at older stages.

Newborn - check for cataract.1st year

- visual behaviour to be monitored by a paediatrician.2nd year - full

opthalmological review: orthoptic assessment

refraction fundus

examinationFollow up as required for those with problems.

2 yearly full review for others throughout life

.

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

opinion, as for any child.

Slide15

Slide16

Immune Disorders

in Down syndrome

Slide17

10percent

of children

<2years hospitalised

for RSV bronchiolitis

compared

with 0.5 percent of the general

population Passive immunisation with anti-RSV immunoglobulin in the RSV season should be considered

- local guidelines?

Other viruses no more commonVaccination responses preserved – standard policy ought to be pursued

Slide18

Respiratory

infections are the most common cause of death

&

hospitalisation

Non-respiratory

viral, bacterial and fungal infections are generally not more common or severe in Down

syndrome

Lower numbers of B

and

T-lymphocytes - particularly

naïve lymphocytesLow

IgM concentrations IImmune response to infection is usually adequate.

Non-immune causes for recurrent or persistent respiratory infections should be considered.

When excluded seek specialist opinion.

Slide19

Higher

prevalence of

autoimmune:

thyroid disease type 1

diabetes mellitus coeliac disease

skin conditions

May have an insidious

onsetAutoimmune disorders occur

earlier in childhood, equal gender prevalence

Enquire about relevantLow threshold for testing

.Parents should also be aware of common presentations

Slide20

 

General population

Down

syndrome

Hashimoto’s thyroiditis

0.3percent

3 – 33percent

Grave’s disease

0.5percent

2 – 6percent

Type I diabetes mellitus

0.1percent

1 – 11percent

Coeliac Disease

0.5 –

1.0 percent

7 – 43percent

Alopecia areata

0.1percent

6percent

Slide21

Slide22

CARDIOVASCULAR

Slide23

Congenital heart disease in Down syndrome

AVSD 40-50 %Fallot’s 10%

VSD 20-30%ASD 10%PDA 5-10%

Slide24

Slide25

Routine Neonatal

ScreeningCheck for :cyanosis

sweating tachypnoea

poor feeding

Why should we screen in neonatal period? -majority of babies

asymptomatic -approx. 5% have no clinical signs

-evidence that complications arise

earlier in Down’s

syndrome increased tendency to develop pulmonary hypertension

-parents wish/right to know

Should include: CXR ECG

EchocardiogramALL should have Cardiology Review regardless of results.

Slide26

Basic Medical Surveillance

Essentials-Key Points

CONGENITAL HEART DISEASEThe cardiac status of every child mustbe established by age 6 weeks

Either by: neonatal paediatric examination +ECHO

Or: paediatric exam + CXR + ECG 1.

neonatally

2. repeated at age 6 weeks

Note:

Even with Echo an occasional lesion is ‘missed’.Therefore constant clinical vigilance is essential

.Current discussion about need to check for symptoms of mitral valve problems in all children at school leaving stage.

Slide27

Slide28

Respiratory Disorders

in Down syndrome

Slide29

Children

with Down syndrome have significant respiratory morbidity, which accounts for a large number of hospitalisations

.

Risk factors

include:

CHD

C

ongenital airway and parenchyma abnormalities Pulmonary

vascular disease Immune dysfunction

Important contributory co-morbidities: Sleep disordered breathing – 50-100% have OSA

Pulmonary aspiration GORD Hypotonia

Obesity.

Slide30

Common

presentations:

Nasal congestion

Sleep

disordered

breathing

Respiratory infections

Recurrent wheeze

Recognise multifactorial contributors - amenable to therapy

Treat respiratory symptoms early and

aggressivelyConsider additional immunisations: RSV prophylaxis

Polysaccharide pneumococcal vaccine ( PPV) Influenza vaccine

Slide31

Obstructive sleep apnoea:

Parental

reporting is unreliable

“Diagnostic overshadowing”

of symptoms: behavioural difficulties, somnolence

Oximetry carries a high false negative rate (cf RCPCH Guidance, 2009)

Gold standard: sleep study/polysomnography

Treatment: Tonsillo

/adenoidectomyor Non-invasive ventilation

Slide32

Strategies for respiratory disease:

With cardiac disease treat

aggressively to minimise pulmonary oedema, PHT or airway

compression

Treat GORD aggressively

to minimise risk of aspiration pneumonia

Airway malacia: treat with oxygen

(ventilation or surgery to relieve compression or airway reconstruction)

Lower airways disease may benefit from continuous prophylactic antibiotics

Useful once-daily prophylactic antibiotics: azithromycin, co-trimoxazole

, amoxicillin with clavulanic acid or cefixime.

Slide33

Standard treatment for acute

lower respiratory infections

according

to pathogens most likely present and local resistance patterns (Grant et al

2009)

Broad-spectrum

cover with high dose penicillins.

Staphylococcal infection to be

considered in complicated casesPhysiotherapy may be a useful

- particularly children with bronchomalaciaChildren who recover

slowly may require supplemental oxygen for prolonged period with community weaning

Slide34

Slide35

GROWTH ISSUES

Slide36

Growth in Children with

Down Syndrome

Prenatal -Birth weight mean 2.9 kg (-0.9sd)Infancy -most marked growth deficiency

-2.5 sd by 3 yrs

Childhood -slow velocity periods of no growth 3-6/12

Adolescence -pubertal growth spurt

does occur

Adult height -male - 157 cm (5’1”)

-female - 146cm (4’9”)

Slide37

Causes of Poor Growth in Down’s Syndrome

CONSTITUTION

NOT CLASSIC GH DEFICIENCY MAY BE IGF1

DEFICIENCY POOR INTAKE/FEEDING PROBLEMS

HEART DISEASE

THYROID UPPER AIRWAY OBSTRUCTION

DEPRIVATION/NEGLECT

-(INSTITUTIONALISED)

Slide38

Growth Charts

New charts were needed to reflect the current U.K./Irish populationA real DSMIG collaborative effortData provided by members from their clinic populations

6000 measurements of 1100 children

Slide39

Discussion points

First set of growth charts for children with DS in UK and Republic of Ireland

Indicate how healthy children with DS in the UK are growing at the presentCharts show that children are bigger than indicated on previous charts i.e. reflect that this was a healthy populationReflects the tendency to obesity in the older children –

Should not be used as a standard that children should aim to achieve

Slide40

Guidelines for using charts

Preterm babies

Insufficient data to compile preterm centiles

If less than 37 weeks do not plot until reach EDD,and adjust for prematurity for first yearIf more than 37 weeks plot as for chronological age

Slide41

Slide42

Slide43

Slide44

Overweight

As for typically developing children being overweight is a problem.Lack of exercise/ opportunities to exerciseBehaviour ‘rewards’ of snacksSleep disturbance affecting

leptin/ghrelin balanceEndocrine problems mainly thyroid.

Slide45

Slide46

Endocrine disorders and sexual health

Slide47

Down’s 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: Man prevalence (7 studies) - 10.6%

(95% confidence 7.6 - 13.6)

(range 4.5 - 31%)

Slide48

Hypothyroidism in Down’s 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

PHYSICAL HEALTH OR GENERAL AFFECT HAS

CHANGED WITHOUT EXPLANATION

.PARTICULARLY CONSIDER:

Cognitive slowing loss of interest physical slowing

Differential diagnosis from depression and dementia is important.

Slide49

Basic Medical Surveillance

Essentials Key Points

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 screen

Venous 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.

TreatmentReplacement Thyroxine

in a daily or sometimes alternate day regime.

Slide50

Thyroid function during the

first year of life in Down Syndrome. Key points

Classic congenital hypothyroidism does not commonly occur There is a shift towards the upper limit of normal for TSH and the lower limit for fT4 Frank elevation of TSH in the newborn period can occur, but only 1% of infants will test positive on newborn screening

If venous TSH elevation is found, manage using the recent consensus guidelines of the European Society for Paediatric Endocrinology (ESPE) No clear evidence to justify giving thyroxine

treatment to infants with Down syndrome if they have normal thyroid function .

Slide51

Congenital Hypothyroidism Consensus Guidelines

( Léger et al 2013)recommend:

treat all infants with fT4 <10 pmol/l with thyroxine

; keep infants with venous TSH values of 6-10 mU

/l and normal fT4 levels under observation discuss thyroxine treatment for TSH values of 10-20

mU/l, and treat if TSH higher

TREATMENT

The starting dose of L-T4 should be 25

μg daily, titrating fT4 and TSH values against dosage to achieve fT4 10-23 pmol

/l and TSH 0.5-3 mU/l.

All infants receiving thyroxine treatment in these borderline situations should be retested off treatment to reassess the thyroid axis and confirm that the disturbance in thyroid function was transient in nature, which it is in 70 percent of cases (Claret et al, 2013).

The age of stopping thyroxine

and retesting should be from 2years onwards, after the period of most rapid brain growth and maturation.

Slide52

Hypothyroidism after the first year of life in Down syndrome Key Points.

The prevalence of autoimmune (Hashimoto’s) thyroiditis

increases with age in Down syndrome, affecting about 5-6 percent of the paediatric population. Clinical diagnosis is difficult because of an overlap in features shared between hypothyroidism and Down syndrome itself (e.g. constipation, dry skin and hair). Screening for hypothyroidism is essential in Down syndrome and should be put in place for life

Capillary TSH testing, using the filter strip papers designed for newborn screening, is a practical method, and can be done at nursery and school

Children with mild venous TSH elevation (<10 mU

/l) and normal fT4 levels can be observed rather than treated immediately, provided that they appear symptom free

Slide53

Recent evaluation of Thyroid Screening

screening needs to be annual when capillary TSH blood is used56 of 132 children referred from 1997-2009 had tested negative

during the previous year. Currently the capillary TSH cut-off for referral by the Newborn Screening Laboratory is set at ≥ 4mU/l of whole blood. measurement of thyroid autoantibodies appears to be of limited value

Slide54

Hyperthyroidism in Down syndrome is also increased estimate of 6.5 per 1000 (

Goday-Arno et al, 2009)Symptoms of irritability , weight loss as with typically developing childIf TSH receptor antibodies are positive and significant hyperthyroidism occurs limited experience suggests that the so-called ‘block and replace’ regime is best, at least for the first two or three years. The block and replace regime consists of giving an

antithyroid drug such as carbimazole in the dose of0.75 mg/kg/day, continuing this until the fT4 has fallen to around 15 pmol/l. The carbimazole is maintained in its current dose to ‘block’ production by the gland, and treatment with

thyroxine is introduced to replace the deficit, usually in the dose of 50-75 μg daily, adjusting this to keep the fT4, T3 or fT3 and TSH normal

Slide55

DIABETES

There is an increased prevalence of diabetes in people with Down syndrome. Bimodal age distribution peaking under two years of age and again around 12 years

X 10 greater risk of Type 1Often develops earlier, 20% before age 2Type 2 risk associated with weight gainT1DM is one of the autoimmune conditions over-represented in Down syndrome

It commonly occurs with autoimmune thyroid disease and coeliac

disease so routine screening for these associated conditions should be performed.As in the general population the prevalence of type2 diabetes in people with Down syndrome is expected to increase, as the prevalence of obesity increases. Healthy eating and lifestyles are key preventative factors.

Slide56

Presentation and Management

As well as greater incidence of diabetes in the under twos in Down syndrome they are more likely to present with diabetic

ketoacidosis (DKA), largely due to the slower recognition of symptoms. Management aims, treatment options and outcomes are no different to those for other people with T1DM.

Insulin regimens in Down syndrome tend to be simpler and metabolic control better, perhaps because they have simpler lifestyles, accept routine and adherence is better as they are more reliant on adult carers.

Slide57

Male Sexual maturity

Men with Down syndrome have the same array of sexual feelingsFertility low, rare reported cases of fathering children.

Sexually transmitted disease is very rare. Poor personal hygiene, especially cleaning under the foreskin may lead to local infection. For those with more severe social impairment masturbation in an inappropriate setting requires behavioural management intervention.no reports of erectile dysfunctionYearly testicular examination should be encouraged as men with Down syndrome are at higher risk of testicular cancers

Slide58

Female Sexual maturity

People with Down syndrome have sexual feelings and the need for intimacy. These issues require sensitive handling and good practical advice and consideration of health issues.The age of the menarche in Down syndrome is similar to that in the general population and similarly seems to be falling.

In Down syndrome, it usually takes six to eighteen months to establish a regular menstrual cycle. Many women with Down syndrome experience some kind of menstrual disorder; heavy, painful, scanty, non-existent or irregular menstrual flow at some point in their lives. (Menorhaghia,

metorrhagia) Note possibility of thyroid problems affecting periods. Pregnancy is commonly reported, though higher risk of miscarriage and congenital and chromosome abnormalities reported.

Slide59

Treatments as for all female patients

Remember to consider HPV immunisationMefanamic

acid, tranexamic acid for pain reliefProgesterone or combination pill may be used as a contraceptive or to regularise periods.Remember contra-indications if using

Depo-provera or oestrogen preparations. Risk of DVT potentiated if person inactive and overweight, or previous history of heart disease.Other types of contraception should be considered, if practical.

Slide60

Slide61

Haematological Disorders

in Down syndrome

Slide62

Non- specific

abnormalities: polycythaemia

,

macrocytosis

and thrombocytopenia

common

All neonates should have a full blood count and blood

film

Need clinical correlation and refer to published normsTransient myeloproliferative disorder in

up to 10 percent of neonates Most asymptomaticA

a few need urgent interventionA further 20 percent develop

acute leukaemia within 5 yrs

Paediatric haematologist to interpret the blood film.

Slide63

20-30x risk

of developing acute childhood

leukaemia:

Acute

megakaryoblastic

leukaemia: good prognosis with

event-free survival of 80-100 percent.

Uniquely associated with prior transient myeloproliferative disorder and a GATA1

mutationSporadic acute myeloid leukaemia occurs - less

favourable outcomeAcute lymphoblastic leukaemia

more commonOutcome is less goodModified

chemotherapeutic regimens and intensive supportive care the outcome is improving

Slide64

Transient myeloproliferative disorder

GATA1 mutation in 3.8 percentTypically asymptomatic,

no clinical featuresResolves spontaneously <3 monthsHepatomegaly common - regresses spontaneously.

Splenomegaly with portal hypertensionVesiculo-pustular rash on face resembles erythema toxicarum.

Sickness or life-threatening symptoms requires:Single course of intravenous cytarabine.

Slide65

TMD – management:

FBCs 1-2 weekly until blasts have cleared3-monthly till 2 yrs; 6-monthly to age 5yrs

Acute myeloid leukaemia in 17-23%Median age second yearAcute lymphoblastic leukaemia 1-2%

Slide66

20x risk of AML or ALL

Seen equal incidence500x risk of acute megakaryoblastic leukaemia (AMkL)AML younger (95%<4yrs cf

35%)Median age 1.8yrs cf 9.5yrsEvent-free survival 80-100% cf 35-45%ALL B-cell, are in infants

More susceptible to infections and mucositis andSteroid-induced hyperglycaemia

Anthracyclines are omitted Fluoroquinolone - primary prophylaxis

Slide67

Slide68

Gastro-Intestinal Problems

Slide69

Gastrointestinal problems

Structural

Ano rectal – stenosis, imperforate anus}Small bowel –

jejunal/duodenal atresia

} approx 10%Hirschprungs disease approx 2%

Motilityfeeding difficulties

gastro-

oesophageal

reflux GORtoddler’s diarrhoea

constipation

gall stonesauto-immune

Coeliac disease

hepatitis

Slide70

Major Structural Gastrointestinal problems

Seen in approx. 10% Down syndrome childrenOften antenatal diagnosis

Usually present with obstruction in neonatal periodPartial obstructions may not present immediatelySurgical outcomes goodAssociated with other GI abnormalities

Slide71

Hirschprungs

Incidence – at least 2% (0.02 %) in general population)50% late diagnosis ( at least)

PresentationDelayed passage meconiumBowel obstructionenterocolitisConstipationPoor growth

Treatment as for general population BUTGreater risk of complications?Poorer prognosis for continence - controversial

Slide72

Coeliac disease

Symptoms and Signs

Disordered bowel function tending to diarrhoea or to new onset constipation Failure to thrive as indicated using Down Syndrome specific reference charts (Harlow Printing 2000); Abdominal distension General unhappiness and misery Arthritis

Rash suggesting dermatitis herpetiformis

Existing type 1 diabetes, thyroid disease or anaemia

Slide73

Coeliac disease

Prevalence 4 - 17% depending on age of sample and country of origin

May be associated with type 1 diabetes and/or thyroid disease Clinical diagnosis difficult because of overlap with normal features of the syndrome therefore need to have low threshold of clinical suspicion Whole population screening not

currently recommended. AGA screen not

useful in DS population. Anti-endomysial antibody(AEA) effective

AEA screen for all with major or minor symptoms If AEA positive, or if negative but with significant symptoms, proceed to small intestinal biopsy as in general population.

Treat

: with gluten free diet as for general population

correct any nutritional deficiencies particularly iron.Dietary compliance seems no more problematic than in general population

Slide74

Coeliac Disease

Current debate about prevalence and whether screening is necessary.

Recent papers from States and Canada suggest not necessarily cost effective, but quality of life issues if diagnosed late.Some evidence that people with Down Syndrome are less likely to develop bowel cancers.Anti

Endomysial antibody tests and tissue transglutaminase antibodies can be measured from

fingerprick blood, easy test, can be combined with thyroid testing.Would the child present anyway?

Would heightened clinical awareness of possibility of problem be just as effective?

Is it fair to make you take a gluten free diet if you don’t have symptoms?

Slide75

Problems with early feeding

Breast feeding is beneficial and should be encouraged, but may not be easily established because of:Prematurity of childJaundiceHypotonia and poor suckingCardiac problem or other major health issue

Maternal depressionLack of encouragement from health professionals

Slide76

Renal Disorders

in Down syndrome

Slide77

Renal disease is not

common but not rare. Surveillance programmes not current policy – more research required

 Presentations often non-specificBeware “diagnostic over-shadowing” and attributing symptoms to behavioral issues

Slide78

Urinary tract infections, at any age, should be

investigated: Renal ultrasound scan (cf NICE UK guidelines for childhood UTI: no screening for children

>6 months who respond to antibiotics within 48 hours).Investigate girls and boys with: bedwetting, difficulty voiding, poor stream, post-void dribbling or

urinary retention with ultrasound Examine testes regularly with ultrasound if in doubt, from

age of 15 yrs 

Slide79

Facts to reflect on|:

In secondary

urinary

incontinence:

3.8 % investigated cf 13.8 % general population (Brown et al, 2013)Onal

et al,( 2012) studied 237 participants, just 3 % who were asymptomatic had urological anomalies, cf 40 % with

renal symptoms

Testicular Tumours

The lifetime risk of testicular germ cell tumour in the general population is 0.3 - 0.7 %

Down syndrome risk is 6 to 50 times higher.

Slide80

Slide81

Musculoskeletal Disorders

in Down syndrome

Slide82

Hypotonia,

ligamentous

laxity, and autoimmune

disorders

predispose to musculoskeletal conditionsTreatment more difficult

Early diagnosis often difficult:“Diagnostic overshadowing” higher pain tolerance, low reporting of pain

Targeted musculoskeletal health

screening would result in better

outcomes

Slide83

Symptomatic cranio-vertebral instability is rare (<1%)

There is no role for asymptomatic radiological screening

Caution: general anaesthesia

If asymptomatic: should pursue normal sporting activities; if high risk - clinical assessment

Increased post-operative infection risk

means

careful

selection required with risks of surgery carefully

considered

Slide84

Bone Health: decreased

bone formation

markers;

reducted

osteoblastic

bone

formation, low

bone quality and mass (

McKelvey et al 2013

)Role for intermittent parathyroid hormone treatment?Exercise enhances

the bone mass densityEncourage regular physical activity and optimum intake of calcium and vitamin D from a young age and to promote optimum bone health.

Slide85

The main spinal

abnormalities:

Instability of the occipito-cervical junction (cranio-vertebral instability

)

Scoliosis

Cervical arthropathy

Lumbar spondylolysis and

spondylolisthesis

Slide86

Asymptomatic

cranio-vertebral

instability in 10-24 percent

Risk factors:

Hypotonia and ligamentous laxity giving repeated

shearing stress between the centrum of C-1 and the articular surfaces of C-2Results in abnormal ossification and development of the os odontoideum (

Crockard and Stevens 1995).

Odontoid process may be hypoplastic with delayed ossification of the arch of C-1 and C-2 and occipito-atlas instability.

Presentation: Neck or occipital pain – neck extension; Torticollis; Myelopathy/weakness; Change

in gait or manipulative skills; Recent onset incontinence

Slide87

Inflammatory arthritis in children with Down

syndrome: majority

have polyarthritis and

many involvement

of the small joints of hand and

feet. hypermobile joints most likely to be affected; no uveitis

Pain response

Prevalence 2.8%

Slide88

ABNORMAL COLLAGEN

Collagen Type 6Almost all tissuesExtracellular matrix

Muscle hypotonia“Lax” Tissues

Slide89

KNEES-PATELLO-FEMORAL DISLOCATIONS

Contributing factorsCapsular laxityMuscle hypotonia

Genu valgum

Slide90

Slide91

RESULTS

The results of the operative treatment of patellar instability in children with Down’s syndrome 201210 knees in 8 children

Age range 6-11QuadricepsplastyQuadricepsplasty & Galeazzi procedureMean follow up 3 yearsNo recurrence of dislocation

SUMMARYAll small seriesNever identical procedures

Short Follow up

Slide92

 

Down syndrome

Rate of cases per 10,000 population

General Population

Rate of cases per 10,000 population

Renal agenesis

23.5

4.3

Cystic kidney

7.8

1.7

Hydronephrosis

180

21

Hydroureter

13

1.5

Anterior urethral obstruction

2.6

0.1

Posterior urethral valves

5.2

0.7

Hypospadias

80.9

39.6

Prune belly syndrome

2.6

0.2

Slide93

Slide94

Dermatological Disorders

in Down syndrome

Slide95

Common skin

disorders:Eg. xerosis, seborrhoeic dermatitis, and alopecia areata seen with

increased frequency and greater severity Treatment similar to that in the general population.

Slide96

Many benign and largely

cosmetic: e.g. syringomas, milia-like calcinosis cutis, anetoderma

Some represent a serious systemic abnormality: e.g. leukaemia cutisprompting investigation.

 

Slide97

Staph scalded skin

Tinea

c

apitis

Syringomas

Milia-like calcinosis cutis

Slide98

Leukaemia cutis

Slide99

Slide100

Dental Health

in Down syndrome

Slide101

Dental anomalies are common in people with Down

syndrome

May

not experience as much dental decay as their non-affected

peers

People with Down syndrome are more prone to gum

disease

Treatment may

require general

anaestheticDental disease may pose a particular challenge for those with other health issues. Prevention is

importantTooth grinding is a common problem, and can be improved by using splints

Slide102

Impact for Oral and Dental

Health:

Specific intra-oral

features – all a

challneg for oral hygiene:Mouth-open posture

Sometimes droolingProtrusive tongue often with deep fissuring

Other oral features:

Relative prognathism, hypodontia, microdontia,

enamel hypoplasia, aggressive periodontal disease, reduced root length, delayed eruption in both dentitions, delayed exfoliation of primary teeth and tooth wear

Growth retardation in Down syndrome reduces amounts of enamel and dentine in permanent incisors

but not the earlier-forming primary tooth predecessors.

Slide103

Special brushes

Enamel

defects: hypoplasia, microdontia (coeliac disease related); retained ‘baby’ teeth, missing permanent teeth and enamel hypoplasia (ridges/grooves on teeth)

all plaque

traps.

Slide104

Palatal Plates

Slide105

Palatal Plates

Slide106

What impact do other medical conditions associated with Down syndrome have on dental health?

Cardiac

– prophylaxis?

Hypothyroidism

Immun

e

Higher

prevalence and severity of periodontal

disease seen with lesser amounts of initiating factor of

plaquePossibly related to inefficient anti-inflammatory and increased pro-inflammatory

mediators. Phagocytic activity has been recorded as more intenseGORD 

Malocclusion; Drooling – treatments; Hypodontia; Less caries

Slide107

Developmental, Psychological and Psychiatric

Function in Down syndrome

Slide108

Personality and temperament traits include increased good-naturedness, contentedness, and warmth of personality linked at times with

challenging degrees of stubbornness, oppositionality and defiance Problem behaviours more common; ADHD

Sleep disorders are common and require full assessment

Slide109

Risk

factors for autism: seizures, early hypothyroidism, post-cardiac surgery complications, lower IQ, and family historyIn adolescence: more prone to clinical depression

Challenging behaviours require functional behavioural assessments, positive behavioural supports, applied behaviour analysis along with a full assessment of educational strengths and weaknesses.

Slide110

Neurological Disorders

in Down syndrome

Slide111

The enhanced prevalence of epilepsy

is

bimodal

:

In infancy West syndrome – UKISS interventionSenile

myoclonic epilepsy common manifestation of

dementiaMyelopathy associated with

cranio-vertebral instability may present with gait disturbance of bladder or bowel dysfunctionTransient ischaemic attacks

often caused by Moya-Moya syndrome

Think of this if no cardiac disease

Slide112

Normal angio

Moya-Moya angio

Paroxysmal episodes – consider TIAs

Examine: heart

, nails and

retinae

for

evidence of

embolisation; splenomegaly - sub-acute

bacterial

endocarditis; cranial bruits or hyperthyroidism