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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.
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
SYMPOSIUM: SPECIAL NEEDS
Dermatological
Some specific medical problems that occur more
Dry skin
frequently in people with Down syndrome
Folliculitis
Vitiligo
Cardiac
Alopecia
Congenital malformations
Cor pulmonale
Neuropsychiatric
Acquired valvular dysfunction
Infantile spasms and other myoclonic epilepsies
Autistic spectrum disorder
Orthopaedic
Depressive illness
Cervical spine disorders
Dementia (adults)
Hip subluxation/dislocation
Patellar instability
Box 1
Scoliosis
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
Ophthalmic
Down’s syndrome association (Box 2). Written information
Refractive errors
should be given and the Early Support Programme materials are
Blepharitis
useful, as well as the Personal Child Health Record (PCHR)
Nasolacrimal obstruction
insertb for babies born with Down syndrome. Some parents
Cataracts
appreciate being put in touch with another family with a child
Glaucoma
with Down syndrome. They should leave hospital knowing when
Nystagmus
they will next be seen, and who they can contact in the meantime
Squint
should the need arise. The primary healthcare team should also
Keratoconus
be informed.
Gastrointestinal
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
SYMPOSIUM: SPECIAL NEEDS
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
PAEDIATRICS AND CHILD HEALTH --:-
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
Please cite this article in press as: Charleton PM, et al., Medical management of children with Down syndrome, Paediatrics and Child Health
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
Detailed recommendations for medical surveillance essentials for children with Down syndrome can be found at www.dsmig.org.uk/.
Adapted from PCHR insert for babies with Down syndrome (2011)b
Table 1
SYMPOSIUM: SPECIAL NEEDS
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
times.
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.
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
SYMPOSIUM: SPECIAL NEEDS
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
SYMPOSIUM: SPECIAL NEEDS
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
autism.
prophylactic winter antibiotics, physiotherapy, aggressive medi-
cal management of gastro-oesophageal reflux, immunization,
Conclusion
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004
SYMPOSIUM: SPECIAL NEEDS
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
(2013), http://dx.doi.org/10.1016/j.paed.2013.12.004