Sie sind auf Seite 1von 8


Medical management of and Wales 90% of women with antenatal diagnosis of Down syn-
drome choose to terminate. Despite this there has been no major

children with Down change in birth prevalence, probably because women are now
starting their families later, and as incidence of Down syndrome

syndrome rises with maternal age there are likely to be more conceptions of
babies with Down syndrome. Babies born to those who decide to
continue the pregnancy after diagnosis, together with those diag-
Patricia M Charleton
nosed after birth (false negative, or screening not performed),
Jennifer Dennis currently give a live birth rate of 1.0/1000 in the UK. It is therefore
Elizabeth Marder likely that there will continue to be more than 700 babies with Down
syndrome born each year in England and Wales.
Paediatricians have a key role in health provision for these
children. Whilst some thrive from an early age and are in good
Abstract health throughout childhood there is, among the group as a
Down syndrome, trisomy 21, is the most common autosomal trisomy, and whole, an increased risk of congenital abnormalities and a wide
commonest identifiable cause of learning disability. Despite current pre- range of medical problems (Box 1). The impact of these problems
natal screening practice birth prevalence continues to be around 1/1000 on general health, growth and development may be even greater
live births. than would be expected for other children because of the asso-
Children with Down syndrome have an increased risk of congenital ab- ciated developmental delay and learning disability.
normalities and a wide range of treatable medical problems. Paediatri- Historically, some treatable conditions were thought to be
cians have a key role in ensuring that these are recognized and treated ‘part of the syndrome’ and left untreated. There may have been
so that the children’s progress is not hampered by additional secondary lack of recognition of potential benefits to overall functioning of
but preventable disability, and health problems do not prevent them the child or even discrimination. Today we hope that the health
reaching their potential. of children with Down syndrome will be monitored as carefully
In this article we consider the Paediatrician’s role with a suggested as that of any child, and treatment offered when necessary so
approach to medical management throughout childhood, and a review that their progress is not hampered by additional secondary but
of the most frequently occurring health issues. These include cardiac, res- preventable disability, and health problems do not prevent them
piratory, gastrointestinal and haematological disorders, thyroid dysfunc- reaching their potential.
tion, hearing and vision problems, cervical spine and other orthopaedic In this article therefore we consider the Paediatrician’s role in
problems, immune and autistic spectrum disorders, growth and sexual ensuring that this is achieved. Inevitably our review cannot be
development. comprehensive but we cover all major and some less well known
health problems, and less common problems are merely listed in
Keywords Down syndrome; guidelines; trisomy 21 Box 1.

The Paediatrician’s role

Down syndrome is a common cause of developmental disability.
At time of diagnosis
There is widespread awareness of the associated physical fea-
Diagnosis of Down syndrome is increasingly made antenatally.
tures and variable learning disability, but possibly less under-
The Paediatrician may be called on to give information to parents
standing of the wide range of health problems which may also
in order to help them reach a decision about the future of the
affect those with the syndrome.
pregnancy. However for many babies diagnosis is suspected at or
Increasingly diagnosis of Down syndrome is made antenatally
soon after birth when physical features are noticed. It is essential
and many affected pregnancies are terminated. Data from the Na-
that an experienced Paediatrician is then involved immediately in
tional Down Syndrome Cytogenetic Register show that in England
 Confirming the diagnosis
 Giving information to the parents
 Medical assessment
Patricia M Charleton MBChB MRCGP MRCPCH is an Associate Specialist Confirmation of diagnosis by chromosomal analysis is usually
Paediatrician, Department of Community Child Health, Royal Aberdeen possible within 48 hours. Most parents prefer to be told of the
Children’s Hospital, Aberdeen, UK, and Chairman DSMIG (UK and suspected diagnosis as soon as possible, and disclosure should
Ireland). Conflicts of interest: none. not be delayed until chromosome confirmation. The importance
of disclosure of diagnosis and the way it is handled cannot be
Jennifer Dennis BM MA MSc DCH DM FRCPCH is Specialist Advisor to DSMIG over-stressed. Parents often recall many years later how they
(UK and Ireland), Oxford, UK. Conflicts of interest: none. were told and the information given. These initial discussions
will influence how the parents adjust to the diagnosis and how
Elizabeth Marder BMedSci BM BS MRCP FRCPCH is a Consultant Paediatrician they view their baby. The news must be shared sensitively,
and Pathway Lead Clinician for Children and Young People, Nottingham honestly and non-judgmentally. Information given in these early
Children’s Hospital, Nottingham University Hospitals NHS Trust, days must be up-to-date, balanced, and include positive aspects
Nottingham, UK, Information Team DSMIG (UK and Ireland). Conflicts of as well as describing the difficulties that may be faced. It should
interest: none. include

PAEDIATRICS AND CHILD HEALTH --:- 1 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

Some specific medical problems that occur more
Dry skin
frequently in people with Down syndrome
Congenital malformations
Cor pulmonale
Acquired valvular dysfunction
Infantile spasms and other myoclonic epilepsies
Autistic spectrum disorder
Depressive illness
Cervical spine disorders
Dementia (adults)
Hip subluxation/dislocation
Patellar instability
Box 1
Metatarsus varus  Aetiology of Down syndrome (why did it happen? will it
Pes planus happen again?)
 Likely developmental progress (discuss wide variation in
ENT and Respiratory abilities)
Respiratory infections  Immediate and if appropriate possible future health
Conductive hearing loss concerns
Sensorineural hearing loss  Local resources
Sleep related breathing disorders  Long-term prognosis (life expectancy, what the future may
Chronic catarrh hold)
Parents should be given contact information for the local
Down’s syndrome association (Box 2). Written information
Refractive errors
should be given and the Early Support Programme materials are
useful, as well as the Personal Child Health Record (PCHR)
Nasolacrimal obstruction
insertb for babies born with Down syndrome. Some parents
appreciate being put in touch with another family with a child
with Down syndrome. They should leave hospital knowing when
they will next be seen, and who they can contact in the meantime
should the need arise. The primary healthcare team should also
be informed.
Congenital malformations
The neonatal period
Feeding difficulties
Every newborn with Down syndrome should have a compre-
Gastro-oesophageal reflux
hensive medical assessment focussing on medical problems
Hirschprung’s disease
associated with the syndrome. Malformations of the gastroin-
Coeliac disease
testinal tract usually present clinically but other problems may
not. Even major congenital heart disease may not be evident on
Endocrine initial clinical examination and appropriate investigative
Hypothyroidism screening and expert cardiac assessment must be initiated before
Hyperthyroidism discharge from hospital. The eyes should be checked for cataract.
Diabetes Universal newborn hearing screening and blood spot TSH
screening are particularly important, given the increased preva-
Immunological lence of hearing problems and hypothyroidism in Down syn-
Immune dysfunction drome. Recent research also supports checking a neonatal full
Autoimmune diseases, e.g. inflammatory arthropathy, diabetes, blood count (FBC) for transient myeloproliferative disorder.
thyroid disorders, alopecia Some newborns with the syndrome require a significant
period of special care. Average birth weight is 3.07 kg and time to
Haematological regain birth weight may be a month or more. Early feeding dif-
Transient neonatal myeloproliferative states ficulties are common but with the right support breast feeding
Leukaemia can be achieved by most.
Neonatal polycythaemia
Ongoing medical management
Neonatal thrombocytopenia
Children with Down syndrome should be offered regular med-
Polycythaemia, macrocytosis, leucopenia
ical review by a Paediatrician throughout childhood. This may
be via a hospital department, child development centre, or
community paediatric service. The type of service offered will

PAEDIATRICS AND CHILD HEALTH --:- 2 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

provide this service. Guidelines for Down syndrome specific

Useful sources of further information health checks, recommended annually throughout adulthood, are
now available from the Royal College of General Practitioners and
Down Syndrome Medical Interest Group (UK and Ireland) the UK Down’s Syndrome Association has produced an Annual Health Check book (available to all adult members from 2014).
The Paediatrician can help the process of transition by
The Down’s Syndrome Association (UK) providing the general practitioner, carers and young person with a comprehensive report of medical problems, previous health-
care and suggestions for ongoing care. Where the young person
Down’s Syndrome Scotland has specific medical problems, the Paediatrician should ensure that referral to appropriate adult specialists is made.

Down Syndrome Ireland Specific medical problems
Cardiac problemsa
Down’s Heart Group Forty to sixty percent of babies with Down syndrome have congenital heart disease(CHD). Of these, atrio-ventricular septal
defects [AVSD] are the commonest [45%]. Other abnormalities
The Down Syndrome Educational Trust include Fallot’s tetralogy and combinations of ventricular and atrial septal defects.
It is important to establish the cardiac status of all babies with
Early Support Programme the syndrome by age 6 weeks, as irreversible pulmonary vascular disease occurs earlier and more frequently than in other children.
Clinical examination alone is not sufficient. Even babies with
Box 2 significant defects may have no signs or symptoms. Investigation
in the neonatal period is mandatory. Where neonatal echocardi-
vary according to individual need as well as local service or- ography is not available locally an ECG with a superior QRS axis
ganization. In some areas, services are centred in a specific indicates a need for urgent referral for cardiac opinion. Other ba-
Down syndrome clinic. bies can be referred less urgently. However, by 6 weeks all babies
The Paediatrician should review the child’s health and should have had an echocardiogram and specialist cardiological
development and identify medical problems by a combination of assessment, with an action plan for surgery where necessary.
history-taking, examination and screening tests directed at For those requiring surgery initial medical management to
problems more likely to occur in Down syndrome. Table 1, support growth and treat heart failure may be necessary, and
adapted from the PCHR insertb, gives a suggested but minimal timing of surgery depends on the defect. Early correction de-
schedule of essential health checks based on the guidelines for creases the likelihood of complications especially pulmonary
essential medical surveillance developed by the Down Syndrome arterial hypertension (PAH), and surgical success is comparable
Medical Interest Group (DSMIG UK and Ireland). Local more to that in the general population. Those with complete AVSD or
comprehensive protocols should be developed. large VSDs normally have definitive surgical repair at 3e6
The Paediatrician has a central role in coordinating the multi- months old. Not all defects require surgery, but they all should be
disciplinary team of professionals involved with the child and monitored by a cardiologist.
family. Heart disease can develop later in life. Upper airway
Others likely to be involved include: obstruction increases the chance of PAH developing in those with
 Primary healthcare team and without CHD. Primary valvular dysfunction may also
 Specialist doctors: Cardiologist; ENT Surgeon; Ophthal- develop in adolescence or early adult life. Heart auscultation for
mologist; etc. evidence of acquired heart disease should be included as part of
 Therapists: speech and language; physiotherapy; occupa- regular medical review in adulthood.
tional therapy
Gastrointestinal problems
 Social Worker
Ten percent of children with Down syndrome have congenital
 Education: Preschool Teacher/Portage Worker; Nursery/
malformations of the gastrointestinal tract including atresia of the
School Staff; Educational Psychologist

Transition to adult care

This is often a difficult area. After years of regular paediatric su- Evidence based guidelines are available at
pervision, there is no equivalent specialist service for adults.
Psychiatrists with a special interest in learning disability are pri- chartsfull-copy.pdf.
marily concerned with mental health and social adjustment, and The special insert for the PCHR and the Down syndrome specific growth
may not look at other healthcare needs. In some areas ongoing charts are available from Harlow Printing, NE33 4PU, UK, http://www.
care is effectively coordinated by learning disability Nurse Spe-
cialists but more often general practitioners are expected to chartsfull-copy.pdf.

PAEDIATRICS AND CHILD HEALTH --:- 3 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health
Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

Down syndrome e suggested schedule of health checks

The following are suggested ages for health checks. Review at any other time if there are parental or other concerns
Age Birth to 6 weeks Special tests under 2 yrs Preschool checks School age

Thyroid Newborn e routine heel prick-blood From age 1 year e thyroid function should be discussed annually using results of either e Annual TSH
spot test finger-prick test OR 2 yearly thyroid blood tests, including thyroid antibodies
Follow algorithm for positive test. (see text)
Growth Length and weight should be checked frequently and plotted on Length and weight should be checked and plotted on Down syndrome
Down syndrome growth charts. growth charts at least annually while growing. (BMI checked if concern
regarding overweight).
Vision Newborn routine check including congenital Age 18-24 months: Age 4 years: Formal eye and vision Repeat vision test every 2 years or more
cataract check Formal eye and examination including check for frequently if recommended by Optometrist or


vision examination squint, Refraction and assessment Ophthalmologist
including check for of near and distant vision and
squint and refraction for visual acuity

long or short sight

Visual behaviour to be monitored at every review particularly in first year
Hearing Universal newborn hearing screen Full audiological review by Annual audiological review as 2 yearly audiological review e or more
10 months including before frequently if recommended
hearing test and
impedance check
Cardiac By age 6 weeks e cardiac status At all ages low threshold for reviewing cardiac status if signs From adolescence onwards as part of routine
and action plan (see text) or symptoms develop health checks listen to heart for signs of
acquired heart disease
Sleep related Enquire at every review for uneven breathing during sleep and poor quality sleep. Low threshold for further testing using sleep studies
Haematology Newborn FBC to check for TMD If TMD, vigilance until age 5
(see text)
Ó 2013 Elsevier Ltd. All rights reserved.

Detailed recommendations for medical surveillance essentials for children with Down syndrome can be found at
Adapted from PCHR insert for babies with Down syndrome (2011)b

Table 1

jejunum, duodenum, oesophagus and anus, and annular pancreas. Sexual development
These may be picked up on antenatal scan, or present in the
Sexual development is often a major concern for parents. How-
neonatal period. Less severe forms, e.g. anal or duodenal stenosis,
ever it usually proceeds as for other children and with appro-
have milder symptoms and may go unrecognized for some time.
priate support most adolescents cope well with the demands of
Also more common are coeliac disease and Hirschprung’s
puberty. 75% of girls menstruate regularly and 80% can manage
disease. It is important to consider these in the differential
menses independently. Some boys have small genitalia and most
diagnosis of constipation, diarrhoea and poor growth. Many in-
have reduced fertility. There are reports of women with Down
fants with Down syndrome have feeding difficulties. This is often
syndrome having children. About a third of these infants have
due to oral motor dysfunction, but gastro-oesophageal reflux
Down syndrome, 20% have significant other disabilities and
may also play a part. Appropriate management in infancy may
10% are stillborn. People with Down syndrome should have
prevent eating problems later on.
access to sexual health advice, including contraception, tailored
Growtha to their individual understanding and medical conditions.
Short stature is characteristic. Mean adult height is 146 cm (40 900 )
for females and 157 cm (50 100 ) for males. UK Down syndrome Thyroid dysfunctiona
specific growth chartsb (RCPCH/DSMIG 2011 with accompa-
Thyroid dysfunction, commonly hypothyroidism, is more prev-
nying fact sheeta) should be used to plot growth regularly and
alent in people with Down syndrome at all ages. Around 10% of
deviation from centiles should be investigated appropriately. Of
the school age population have uncompensated hypothyroidism,
those falling below the 2nd centile for height or weight, some will
prevalence increasing with age. Signs and symptoms may not be
have significant pathology.
obvious or dismissed as part of the Down syndrome phenotype.
Intrauterine growth is similar to that for other babies until 38
Diagnosis on clinical grounds is therefore not reliable and
weeks gestation and until this age it is appropriate to use the
biochemical screening essential. All babies in the UK are
neonatal infant close monitoring growth charts (NICAM). How-
screened for hypothyroidism. Thereafter each district should
ever from 38 weeks those with Down syndrome do not continue
have a policy for thyroid screening for all children with Down
to gain weight as quickly as unaffected babies so by 40 weeks the
syndrome, either by 2 yearly venous blood estimation of T4,
shortfall is considerable. Average birth weight at 38e42 weeks is
TSH, and thyroid autoantibodies or annual finger-prick dried
around 3 kg. Newborns with Down syndrome may have more
blood spot TSH. An algorithm to guide management of capillary
significant initial weight loss than other babies and are slower to
TSH screening has been produced based on experience in Scot-
regain birth weight. Continuing faltering growth may indicate
land (see Box 3). Raised TSH capillary samples are checked with
ongoing feeding difficulties or medical pathology.
venous bloods and most children with TSH 6e10 mU/litre only
The Down syndrome specific chartsb suggest that for older
require surveillance. Transient changes in TFTs may occur, both
children with Down syndrome obesity is the norm. However
before and after treatment.
these are reference charts and do not indicate a desired standard.
Hyperthyroidism, although less common, is also more
Obesity is not an inevitable consequence of the syndrome. A
frequently seen in Down syndrome. The Paediatrician should
Down syndrome BMI chart is included on UK Down Growth
have a low threshold of suspicion for thyroid dysfunction at all
Charts, to aid identification of overweight and obesity which, if
present, should be managed in the usual way.

Algorithm for the management of children and adolescents with Down syndrome referred with TSH elevation on
capillary screening

TSH 6 mU/l and either fT4 <9 pmol/l, and/or child has symptoms Start L-T4 treatment without delay

TSH 21mU/l Start L-T4 treatment irrespective of clinical and fT4 status

TSH is 6 to <11 mU/l, and fT4 9e23 pmol/l, and child is symptom-free Immediate treatment not indicated; Continue annual
screening but advise family to attend earlier if symptoms
suggestive of hypothyroidism

TSH 11e20.9 mU/l, and fT4 normal, child e symptom-free Recommend L-T4 treatment since therapy is likely to
be required eventually.
Advise family of alternative e surveillance, with early
recourse to venous testing if the child develops symptoms

Note that TSH and fT4 values refer to venous and not capillary blood.

Adapted from Scottish Down Syndrome Thyroid Screening Group.

Box 3

PAEDIATRICS AND CHILD HEALTH --:- 5 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

People with Down syndrome have increased susceptibility to Ophthalmological problemsa

a variety of autoimmune conditions and it is not unusual for
Ophthalmological problems, including congenital cataracts,
combinations of hypothyroidism, coeliac disease and type 1
nystagmus, squint, glaucoma, keratoconus, blepharitis and
diabetes to affect the same child.
blocked nasolacrimal ducts, are over represented in Down syn-
drome. Refractive errors, including hypermetropia, occur in
Cervical spine disordersa
approximately 70% and if uncorrected constitute a significant
At all ages people with Down syndrome are at risk for acute or cause of secondary handicap.
chronic neurological problems caused by cervical spine disor- The possibility of ophthalmic problems should be considered
ders. In childhood the predominant issue is craniovertebral at every review, starting with a check for congenital cataracts in
instability. Hypotonia and ligamentous laxity can cause exces- the neonatal examination. After this, the Paediatrician should
sive movement and potential subluxation at atlanto-axial and monitor visual behaviour and refer concerns to an Ophthalmol-
atlanto-occipital joints. The rare but potentially catastrophic ogist. Formal visual assessments (including refraction, fundo-
consequences of cervical spine subluxation are well scopy and orthoptic testing) are recommended by age 2 and
documented. around 4 years old.
Identifying those at risk is not straightforward. Around 30% of Infant refractive errors, which often reduce spontaneously in
individuals with Down syndrome have radiological evidence of other children, are likely to persist. Early correction with
increased movement at the craniovertebral junction but few have glasses is therefore recommended, especially as most people
clinical symptoms. Furthermore a normal cervical spine X-ray with Down syndrome also have difficulty accommodating to
does not preclude subsequent development of problems. Routine focus on near. Near and distance vision should always be
radiological screening for asymptomatic people with Down syn- checked and a prescription for near correction or bifocals
drome is therefore not recommended but emphasis should be on considered at all ages.
following investigative pathways for those with symptoms. It is Vision should continue to be checked at least every 2 years
essential that healthcare professionals as well as parents, rela- throughout life. In older children this may be done by a high
tives and carers are aware of the following warnings: street Optometrist.
 Neck pain Keratoconus, which causes corneal distortion and poor vision,
 Abnormal head posture is prevalent in young adults with Down syndrome (around 15%).
 Torticollis (wry neck) Recent advances in collagen cross linkage treatment to halt
 Reduced neck movements progression of this condition have highlighted the need for early
 Deterioration of gait and/or frequent falls diagnosis and regular eye examinations in adolescents with
 Increasing fatigability on walking Down syndrome.
 Deterioration of manipulative skills
Anyone with any of these symptoms should be carefully Hearinga
examined and good quality flexion and extension cervical spine Over 50% of children with Down syndrome have hearing loss.
X-rays arranged expediently. Those with suspected cervical spine This is mainly due to otitis media with effusion (OME) but some
disorder, even with normal X-rays, should be referred to a also have sensorineural deafness. Onset of the latter is often in
specialist centre. Increasingly good outcomes following surgical teenage years, prevalence increasing with age. OME has an
fusion are being reported when timely intervention is performed earlier age of onset than in other children and often persists into
in experienced centres. adult life. Those suspected of having OME should be managed by
Prior to general anaesthesia attention should be paid to the a multi-disciplinary team with expertise in assessing and treating
above warning signs as unconscious children are vulnerable to children with Down Syndrome. There is no clear evidence for the
injury. Pre-operative radiography is not recommended in the best treatment option. Hearing aids (behind ear or bone-
absence of clinical concerns. anchored BAHA) should normally be offered for OME and
Asymptomatic children should not be barred from sporting hearing loss. They are most likely to be accepted if fitted by a
activities because there is no evidence that participation in specialist paediatric service, supported by Specialist Teachers for
sports increases the risk of cervical spine injury any more than hearing-impaired children.
for the general population. For specialized sports, such as Surgery is technically difficult due to unusually tenacious glue
trampolining, the requirements of Local Governing Bodies and narrow ear canals. Though ventilation tubes have a place in
should be observed ( e Atlanto- management, their benefit is often short-lived. Otorrhoea is
Axial Information Pack). common and repeat surgery often necessary.
As for all children, one of the most important factors in
Other orthopaedic problems managing hearing loss is recognising there is a problem. Regular
Hypotonia, ligamentous laxity and skeletal dysplasias may pre- audiological surveillance throughout life is necessary, beginning
with newborn screening. Further review should take place by 10
dispose to other orthopaedic problems, including patellar insta-
bility, scoliosis, subluxation/dislocation of the hips, pes planus months. This will need to be done by a specialist audiology
and metatarsus varus. Intervention will be necessary if there is service as detailed assessment including otoscopy and imped-
pain, limited function or risk of structural damage. Surgery is ance testing are needed. After this, preschool children should
sometimes indicated. Many children benefit from shoe inserts have their hearing reviewed annually and older children at least
and some need specialist footwear. biennially.

PAEDIATRICS AND CHILD HEALTH --:- 6 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

Sleep related breathing disorders (SRBD) this are multifactorial, but there does appear to be impaired
immune function. Children who have recurrent infection should
Children with Down syndrome are at high risk of sleep related
be investigated for underlying cause and treated accordingly.
breathing disorders which can lead to growth retardation, poor
It is important that babies with Down syndrome are offered
developmental progress, tiredness and lethargy. However these
primary vaccinations according to the routine schedule. Those
cardinal signs may not be recognized against a background of
with congenital heart disease respiratory problems or prematu-
expected learning disability, cognitive slowness and short stat-
rity may meet criteria for RSV prophylaxis. Extra immunizations
ure. There is also a risk of pulmonary hypertension.
with seasonal influenza vaccine from 6 months of age and
The possibility of SRBD should be considered at every review.
pneumococcal vaccine (Pneumovax II) after the 2nd birthday
Interpretation of a history of sleep difficulties is notoriously
should be considered. Whilst most show a normal vaccine
difficult but diurnal symptoms of restless sleep, snoring and day
response, decreased response has been reported, and checking of
time sleepiness may be pointers, and observed sleep apnoea is
functional antibodies with repeat immunizations for those who
highly suggestive of a significant problem. Because normal ox-
have mounted an inadequate response may be advised.
imetry does not exclude obstructive sleep apnoea, Paediatricians
Autoimmune disorders are overrepresented in people with
should have a low threshold to arrange poly-somnographic sleep
Down syndrome. Type 1 diabetes and thyroid disorders have
studies (and some have argued for screening of all preschool
already been mentioned. Juvenile inflammatory arthropathy
children with Down syndrome).
(JIA) can be particularly distressing and is known to be under-
Many children benefit from adenotonsillectomy but may face
diagnosed because aspects of the Down syndrome phenotype
more peri-operative complications than other children, and may
tend to mask some of the usual presenting clinical signs.
require access to ITU. If abnormal breathing persists after surgery
a trial of mask Continuous Positive Airway Pressure (CPAP) or
Autistic spectrum disorders
night-time oxygen may be necessary.
Autistic disorders occur more often in children and teenagers
Other respiratory disorders with Down syndrome than other children. This possibility must
be considered in any child who is failing to make expected
Respiratory infections are the second most common cause of death
progress in communication and social skills or who shows
(after heart disease) in children under 19 years old with Down
regression of these skills.
syndrome, and respiratory problems the most common primary
Some children display behaviours typical of autistic disorder
reason for hospital admission, and prolonged stays including ITU
as toddlers and follow a course similar to that seen in other
in young children. Contributory factors include hypotonia,
children. However regression of social and communication skills
obesity, congenital cardiac and airway abnormalities, immuno-
may occur in later childhood or adolescence.
logical dysfunction, gastro-oesophageal reflux and dysmotility.
Diagnosis is important because when the conditions coexist
Treatment of one factor alone is often unsuccessful so inves-
the management, particularly education, may need to be more
tigation and management of respiratory symptoms should cover
specifically geared to addressing the difficulties associated with
all relevant factors. Many children benefit from a combination of
prophylactic winter antibiotics, physiotherapy, aggressive medi-
cal management of gastro-oesophageal reflux, immunization,
and management of upper airway disease. Asthma is generally
over diagnosed in children with Down syndrome and wheeze Life expectancy of people with Down syndrome has quadrupled
often has another explanation. in the last 50 years. The average life expectancy is now around 60
years with many living well into their 60’s and 70’s to outlive
Haematological problems their parents. This increased survival is mainly thanks to
improved access to cardiac surgery and better management of
Abnormalities of the full blood count (FBC) are common in
respiratory infections. It brings with it a challenge for health
Down syndrome from the neonatal stage onwards (Box 1).
professionals to optimize the health of people with Down syn-
Although most changes are benign, 1e2% will develop child-
drome throughout their lives.
hood leukaemia. Neonates should have an FBC, particularly to
Over the years there have been many claims involving un-
look for transient myeloproliferative disorder (TMD). This occurs
conventional treatments and nutritional supplements, some
in about 5%, and is typically asymptomatic, resolving sponta-
aimed at improving general health, and others claiming to
neously by 3 months. TMD is significant as around 20% will
ameliorate the learning disability itself. To date none of these has
subsequently develop a specific form of leukaemia, myeloid
been proven effective. A randomized controlled trial in the UK of
leukaemia of Down syndrome (ML-DS), before they are 5 years
early vitamin and mineral supplements showed no benefit to
old. ML-DS is a highly treatable, chemo-sensitive leukaemia with
health or general development.
an excellent prognosis. Babies with TMD should have repeat FBC
Meanwhile a great deal is already known about the wide
at 3 months to confirm resolution. A sick baby with TMD should
range of treatable medical problems that occur more frequently
be referred urgently to a Paediatric Haematologist.
in people with Down syndrome. The most significant benefit that
medicine has to offer is quality targeted screening and assess-
Immune dysfunction and immunization
ment specific to their needs, and to ensure they are offered the
Increased susceptibility to viral and bacterial infections occurs in same opportunities for medical treatment as the rest of the
Down syndrome, particularly respiratory infection. Reasons for population. A

PAEDIATRICS AND CHILD HEALTH --:- 7 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health

FURTHER READING Watts R, Vyas H. An overview of respiratory problems in children with

Cunningham C. Down’s syndrome: an introduction for parents and carers. Down’s syndrome. Arch Dis Child 2013; 98: 812e7.
3rd Edn. Souvenir Press, 2006.
Dennis J, Archer N, Ellis J, Marder L. Recognising heart disease in children
with Down syndrome. Arch Dis Child Educ Pract Ed 2010; 95: 98e104. Practice points
Down’s Syndrome Association annual health check information for GPs
and health booklets, http// C Down syndrome prevalence continues to be around 1/1000
for-professionals.html. live births in UK.
Down’s Syndrome Medical Interest Group e guidelines for essential C Average life expectancy is now around 60 years.
medical surveillance, keypoint series, clinical awareness notes and C Increased life expectancy is mainly due to improved access to
growth chart information, Available online at: surgery and treatment of respiratory infections.
uk/publications/index.html. C Individuals with Down syndrome vary greatly in personality,
Ellis JM, Tan HK, Gilbert RE, et al. Supplementation with antioxidants and ability and general health.
folinic acid for children with Down’s syndrome: randomised controlled C As a group they have increased risk of a wide range of treat-
trial. BMJ 2008; 336: 594e7. able medical conditions.
Flanders L, Tulloh R. Cardiac problems in Down syndrome. Paediatr Child C Local protocols and pathways should be in place to ensure
Health 2010; 21: 25e31. medical problems are managed and treated, and do not pre-
Review of vision in children with Down syndrome from Cardiff Research vent children reaching their potential.
Group, C Evidence based guidelines from the Down Syndrome Medical
group/informationforpros/. Interest Group (DSMIG) are a helpful basis for targeted
Understanding intellectual disability and health, http://www. surveillance. C There is still no evidence for unconventional treatments or
James RM, Kinsey SE. Haematological disorders in Down’s syndrome. nutritional supplements.
Paediatr Child Health 2009; 19: 377e80. C Paediatricians play a key role in management of children with
McGowan S, Jones J, Brown A, et al. Capillary TSH Screening Programme Down syndrome at diagnosis and in coordinating care
for Down syndrome in Scotland 1997e2009. Arch Dis Child 2011; 96: throughout childhood.
Morris JK, Springett A, The National Downs Cytogenetic Register for En-
gland and Wales; 2011 Annual Report (Feb 2013) PDF available on line
National Institute for Health and Clinical Excellence. Surgical management
of OME in children [CG60]. 2008. Downs section 3.4; 61e3. Available
online at:,
We acknowledge with gratitude the contribution not only of
Newton R. The Down’s syndrome handbook: a practical guide for parents
members of the UK Down Syndrome Medical Interest Group DSMIG
and carers. Vermilion, 2004 [Revised Edition].
UK but also of the many other clinicians whose ideas and advice
Skotko B. Mothers of children with Down syndrome reflect on their
have influenced the contents of this article.
postnatal support. Pediatrics 2005; 115: 64e77.

PAEDIATRICS AND CHILD HEALTH --:- 8 Ó 2013 Elsevier Ltd. All rights reserved.

Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health