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
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Slide1
Down syndrome –
Health Surveillance & Screening
Richard NewtonRoyal Manchester Children’s Hospital
Slide2Dr Patricia D. Jackson
EDINBURGH
Slide3Slide4HEARING
Slide5Hearing 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
Slide6Slide7Slide8Assessing 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
Slide9Basic 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.
VISION Ophthalmic issues
Slide12Ophthalmic Problems
cataract 1 -5% neonates
squint commonrefractive errors 60% by age 7
Corneal problems 5% keratoconus
blepharitis
Nystagmus
Naso-lacrimal
duct blockage
Slide13Recent 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.
Slide14Key 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.
Slide15Slide16Immune Disorders
in Down syndrome
Slide1710percent
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
Slide18Respiratory
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.
Slide19Higher
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
Slide20General 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
Slide21Slide22CARDIOVASCULAR
Slide23Congenital heart disease in Down syndrome
AVSD 40-50 %Fallot’s 10%
VSD 20-30%ASD 10%PDA 5-10%
Slide24Slide25Routine 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.
Slide26Basic 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.
Slide27Slide28Respiratory Disorders
in Down syndrome
Slide29Children
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.
Slide30Common
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
Slide31Obstructive 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
Slide32Strategies 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.
Slide33Standard 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
Slide34Slide35GROWTH ISSUES
Slide36Growth 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”)
Slide37Causes 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)
Slide38Growth 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
Slide39Discussion 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
Slide40Guidelines 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
Slide41Slide42Slide43Slide44Overweight
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.
Slide45Slide46Endocrine disorders and sexual health
Slide47Down’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%)
Slide48Hypothyroidism 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.
Slide49Basic 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.
Slide50Thyroid 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 .
Slide51Congenital 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.
Slide52Hypothyroidism 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
Slide53Recent 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
Slide54Hyperthyroidism 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
Slide55DIABETES
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.
Slide56Presentation 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.
Slide57Male 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
Slide58Female 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.
Slide59Treatments 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.
Slide60Slide61Haematological Disorders
in Down syndrome
Slide62Non- 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.
Slide6320-30x 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
Slide64Transient 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.
Slide65TMD – 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%
Slide6620x 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
Slide67Slide68Gastro-Intestinal Problems
Slide69Gastrointestinal 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
Slide70Major 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
Slide71Hirschprungs
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
Slide72Coeliac 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
Slide73Coeliac 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
Slide74Coeliac 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?
Slide75Problems 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
Slide76Renal Disorders
in Down syndrome
Slide77Renal 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
Slide78Urinary 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
Slide79Facts 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.
Musculoskeletal Disorders
in Down syndrome
Slide82Hypotonia,
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
Slide83Symptomatic 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
Slide84Bone 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.
Slide85The main spinal
abnormalities:
Instability of the occipito-cervical junction (cranio-vertebral instability
)
Scoliosis
Cervical arthropathy
Lumbar spondylolysis and
spondylolisthesis
Slide86Asymptomatic
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
Slide87Inflammatory 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%
Slide88ABNORMAL COLLAGEN
Collagen Type 6Almost all tissuesExtracellular matrix
Muscle hypotonia“Lax” Tissues
Slide89KNEES-PATELLO-FEMORAL DISLOCATIONS
Contributing factorsCapsular laxityMuscle hypotonia
Genu valgum
Slide90Slide91RESULTS
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
Slide92Down 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
Slide93Slide94Dermatological Disorders
in Down syndrome
Slide95Common skin
disorders:Eg. xerosis, seborrhoeic dermatitis, and alopecia areata seen with
increased frequency and greater severity Treatment similar to that in the general population.
Slide96Many benign and largely
cosmetic: e.g. syringomas, milia-like calcinosis cutis, anetoderma
Some represent a serious systemic abnormality: e.g. leukaemia cutisprompting investigation.
Staph scalded skin
Tinea
c
apitis
Syringomas
Milia-like calcinosis cutis
Slide98Leukaemia cutis
Slide99Slide100Dental Health
in Down syndrome
Slide101Dental 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
Slide102Impact 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.
Slide103Special brushes
Enamel
defects: hypoplasia, microdontia (coeliac disease related); retained ‘baby’ teeth, missing permanent teeth and enamel hypoplasia (ridges/grooves on teeth)
all plaque
traps.
Slide104Palatal Plates
Slide105Palatal Plates
Slide106What 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
Slide107Developmental, Psychological and Psychiatric
Function in Down syndrome
Slide108Personality 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
Slide109Risk
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.
Slide110Neurological Disorders
in Down syndrome
Slide111The 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
Slide112Normal 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