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Paediatrics and Child Health

Volume 24, Issue 8, August 2014, Pages 362-369

Symposium: special needs Medical management of children with Down syndromeAuthor links open overlay panelPatricia M.Charleton JenniferDennis ElizabethMarder Show moreOutlineAdd to MendeleyShare Cite https://doi.org/10.1016/j.paed.2013.12.004 Get rights and content

Abstract

Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000 live births.

Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children's progress is not hampered by additional secondary but preventable disability, and health problems do not prevent them reaching their potential.

In this article we consider the Paediatrician's role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These include cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.

Keywords

Down syndrome guidelines trisomy 21

Down syndrome is a common cause of developmental disability. There is widespread awareness of the associated physical features and variable learning disability, but possibly less understanding of the wide range of health problems which may also affect those with the syndrome.

Increasingly diagnosis of Down syndrome is made antenatally and many affected pregnancies are terminated. Data from the National Down Syndrome Cytogenetic Register show that in England and Wales 90% of women with antenatal diagnosis of Down syndrome choose to terminate. Despite this there has been no major change in birth prevalence, probably because women are now starting their families later, and as incidence of Down 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 diagnosed after birth (false negative, or screening not performed), currently give a live birth rate of 1.0/1000 in the UK. It is therefore 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 health throughout childhood there is, among the group as a whole, an increased risk of congenital abnormalities and a wide range of medical problems (Box 1). The impact of these problems on general health, growth and development may be even greater than would be expected for other children because of the associated developmental delay and learning disability.

Box 1

Some specific medical problems that occur more frequently in people with Down syndrome

Cardiac

Congenital malformations

Cor pulmonale

Acquired valvular dysfunction

Orthopaedic

Cervical spine disorders

Hip subluxation/dislocation

Patellar instability

Scoliosis

Metatarsus varus

Pes planus

ENT and Respiratory

Respiratory infections

Conductive hearing loss

Sensorineural hearing loss

Sleep related breathing disorders

Chronic catarrh

Ophthalmic

Refractive errors

Blepharitis

Nasolacrimal obstruction

Cataracts

Glaucoma

Nystagmus

Squint

Keratoconus

Gastrointestinal

Congenital malformations

Feeding difficulties

Gastro-oesophageal reflux

Hirschprung's disease

Coeliac disease

Endocrine

Hypothyroidism

Hyperthyroidism

Diabetes

Immunological

Immune dysfunction

Autoimmune diseases, e.g. inflammatory arthropathy, diabetes, thyroid disorders, alopecia

Haematological

Transient neonatal myeloproliferative states

Leukaemia

Neonatal polycythaemia

Neonatal thrombocytopenia

Polycythaemia, macrocytosis, leucopenia

Dermatological

Dry skin

Folliculitis

Vitiligo

Alopecia

Neuropsychiatric

Infantile spasms and other myoclonic epilepsies

Autistic spectrum disorder

Depressive illness

Dementia (adults)

Historically, some treatable conditions were thought to be ‘part of the syndrome’ and left untreated. There may have been lack of recognition of potential benefits to overall functioning of the child or even discrimination. Today we hope that the health of children with Down syndrome will be monitored as carefully as that of any child, and treatment offered when necessary so that their progress is not hampered by additional secondary but preventable disability, and health problems do not prevent them reaching their potential.

In this article therefore we consider the Paediatrician's role in ensuring that this is achieved. Inevitably our review cannot be comprehensive but we cover all major and some less well known health problems, and less common problems are merely listed in Box 1.

The Paediatrician's role

At time of diagnosis

Diagnosis of Down syndrome is increasingly made antenatally. The Paediatrician may be called on to give information to parents in order to help them reach a decision about the future of the pregnancy. However for many babies diagnosis is suspected at or soon after birth when physical features are noticed. It is essential that an experienced Paediatrician is then involved immediately in

•: Confirming the diagnosis
•: Giving information to the parents
•: Medical assessment

Confirmation of diagnosis by chromosomal analysis is usually possible within 48 hours. Most parents prefer to be told of the suspected diagnosis as soon as possible, and disclosure should not be delayed until chromosome confirmation. The importance of disclosure of diagnosis and the way it is handled cannot be over-stressed. Parents often recall many years later how they were told and the information given. These initial discussions will influence how the parents adjust to the diagnosis and how they view their baby. The news must be shared sensitively, honestly and non-judgmentally. Information given in these early days must be up-to-date, balanced, and include positive aspects as well as describing the difficulties that may be faced. It should include

•: Aetiology of Down syndrome (why did it happen? will it happen again?)
•: Likely developmental progress (discuss wide variation in abilities)
•: Immediate and if appropriate possible future health concerns
•: Local resources
•: Long-term prognosis (life expectancy, what the future may hold)

Parents should be given contact information for the local Down's syndrome association (Box 2). Written information should be given and the Early Support Programme materials are useful, as well as the Personal Child Health Record (PCHR) 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.

Box 2

Useful sources of further information

Down Syndrome Medical Interest Group (UK and Ireland)

www.dsmig.org.uk

The Down's Syndrome Association (UK)

www.downs-syndrome.org.uk

Down's Syndrome Scotland

www.dsscotland.org.uk

Down Syndrome Ireland

www.downsyndrome.ie

Down's Heart Group

www.dhg.org.uk

The Down Syndrome Educational Trust

www.downsed.org

Early Support Programme

www.ncb.org.uk/early-support

The neonatal period

Every newborn with Down syndrome should have a comprehensive medical assessment focussing on medical problems associated with the syndrome. Malformations of the gastrointestinal tract usually present clinically but other problems may not. Even major congenital heart disease may not be evident on initial clinical examination and appropriate investigative screening and expert cardiac assessment must be initiated before discharge from hospital. The eyes should be checked for cataract. Universal newborn hearing screening and blood spot TSH screening are particularly important, given the increased prevalence of hearing problems and hypothyroidism in Down syndrome. Recent research also supports checking a neonatal full blood count (FBC) for transient myeloproliferative disorder.

Some newborns with the syndrome require a significant period of special care. Average birth weight is 3.07 kg and time to regain birth weight may be a month or more. Early feeding difficulties are common but with the right support breast feeding can be achieved by most.

Ongoing medical management

Children with Down syndrome should be offered regular medical 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 vary according to individual need as well as local service organization. In some areas, services are centred in a specific Down syndrome clinic.

The Paediatrician should review the child's health and development and identify medical problems by a combination of history-taking, examination and screening tests directed at problems more likely to occur in Down syndrome. Table 1, adapted from the PCHR insertb, gives a suggested but minimal schedule of essential health checks based on the guidelines for essential medical surveillance developed by the Down Syndrome Medical Interest Group (DSMIG UK and Ireland). Local more comprehensive protocols should be developed.

Table 1. Down syndrome – 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 – routine heel prick-blood spot test	From age 1 year – thyroid function should be discussed annually using results of either – Annual TSH 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 Down syndrome growth charts.	Length and weight should be checked and plotted on Down syndrome growth charts at least annually while growing. (BMI checked if concern regarding overweight).
Vision	Newborn routine check including congenital cataract check	Age 18-24 months: Formal eye and vision examination including check for squint and refraction for long or short sight	Age 4 years: Formal eye and vision examination including check for squint, Refraction and assessment of near and distant vision and visual acuity	Repeat vision test every 2 years or more frequently if recommended by Optometrist or Ophthalmologist
Visual behaviour to be monitored at every review particularly in first year
Hearing	Universal newborn hearing screen	Full audiological review by 10 months including hearing test and impedance check	Annual audiological review as before	2 yearly audiological review – or more frequently if recommended
Cardiac	By age 6 weeks – cardiac status and action plan (see text)	At all ages low threshold for reviewing cardiac status if signs or symptoms develop	From adolescence onwards as part of routine health checks listen to heart for signs of acquired heart disease
Sleep related breathing disorders	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 (see text)	If TMD, vigilance until age 5

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

The Paediatrician has a central role in coordinating the multi-disciplinary team of professionals involved with the child and family.

Others likely to be involved include:

•: Primary healthcare team
•: Specialist doctors: Cardiologist; ENT Surgeon; Ophthalmologist; etc.
•: Therapists: speech and language; physiotherapy; occupational therapy
•: Social Worker
•: Education: Preschool Teacher/Portage Worker; Nursery/School Staff; Educational Psychologist

Transition to adult care

This is often a difficult area. After years of regular paediatric supervision, there is no equivalent specialist service for adults. Psychiatrists with a special interest in learning disability are primarily concerned with mental health and social adjustment, and may not look at other healthcare needs. In some areas ongoing care is effectively coordinated by learning disability Nurse Specialists but more often general practitioners are expected to provide this service. Guidelines for Down syndrome specific health checks, recommended annually throughout adulthood, are now available from the Royal College of General Practitioners and 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 providing the general practitioner, carers and young person with a comprehensive report of medical problems, previous healthcare and suggestions for ongoing care. Where the young person has specific medical problems, the Paediatrician should ensure that referral to appropriate adult specialists is made.

Specific medical problems

Cardiac problemsa

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 include Fallot's tetralogy and combinations of ventricular and atrial septal defects.

It is important to establish the cardiac status of all babies with 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 significant defects may have no signs or symptoms. Investigation in the neonatal period is mandatory. Where neonatal echocardiography is not available locally an ECG with a superior QRS axis indicates a need for urgent referral for cardiac opinion. Other babies can be referred less urgently. However, by 6 weeks all babies should have had an echocardiogram and specialist cardiological assessment, with an action plan for surgery where necessary.

For those requiring surgery initial medical management to support growth and treat heart failure may be necessary, and timing of surgery depends on the defect. Early correction decreases the likelihood of complications especially pulmonary arterial hypertension (PAH), and surgical success is comparable to that in the general population. Those with complete AVSD or large VSDs normally have definitive surgical repair at 3–6 months old. Not all defects require surgery, but they all should be monitored by a cardiologist.

Heart disease can develop later in life. Upper airway obstruction increases the chance of PAH developing in those with and without CHD. Primary valvular dysfunction may also develop in adolescence or early adult life. Heart auscultation for evidence of acquired heart disease should be included as part of regular medical review in adulthood.

Gastrointestinal problems

Ten percent of children with Down syndrome have congenital malformations of the gastrointestinal tract including atresia of the jejunum, duodenum, oesophagus and anus, and annular pancreas. These may be picked up on antenatal scan, or present in the neonatal period. Less severe forms, e.g. anal or duodenal stenosis, have milder symptoms and may go unrecognized for some time.

Also more common are coeliac disease and Hirschprung's disease. It is important to consider these in the differential diagnosis of constipation, diarrhoea and poor growth. Many infants with Down syndrome have feeding difficulties. This is often due to oral motor dysfunction, but gastro-oesophageal reflux may also play a part. Appropriate management in infancy may prevent eating problems later on.

Growtha

Short stature is characteristic. Mean adult height is 146 cm (4′9″) for females and 157 cm (5′1″) for males. UK Down syndrome specific growth chartsb (RCPCH/DSMIG 2011 with accompanying fact sheeta) should be used to plot growth regularly and deviation from centiles should be investigated appropriately. Of those falling below the 2nd centile for height or weight, some will have significant pathology.

Intrauterine growth is similar to that for other babies until 38 weeks gestation and until this age it is appropriate to use the neonatal infant close monitoring growth charts (NICAM). However from 38 weeks those with Down syndrome do not continue to gain weight as quickly as unaffected babies so by 40 weeks the shortfall is considerable. Average birth weight at 38–42 weeks is around 3 kg. Newborns with Down syndrome may have more significant initial weight loss than other babies and are slower to regain birth weight. Continuing faltering growth may indicate ongoing feeding difficulties or medical pathology.

The Down syndrome specific chartsb suggest that for older children with Down syndrome obesity is the norm. However these are reference charts and do not indicate a desired standard. Obesity is not an inevitable consequence of the syndrome. A Down syndrome BMI chart is included on UK Down Growth Charts, to aid identification of overweight and obesity which, if present, should be managed in the usual way.

Sexual development

Sexual development is often a major concern for parents. However it usually proceeds as for other children and with appropriate support most adolescents cope well with the demands of puberty. 75% of girls menstruate regularly and 80% can manage menses independently. Some boys have small genitalia and most have reduced fertility. There are reports of women with Down syndrome having children. About a third of these infants have Down syndrome, 20% have significant other disabilities and 10% are stillborn. People with Down syndrome should have access to sexual health advice, including contraception, tailored to their individual understanding and medical conditions.

Thyroid dysfunctiona

Thyroid dysfunction, commonly hypothyroidism, is more prevalent in people with Down syndrome at all ages. Around 10% of the school age population have uncompensated hypothyroidism, prevalence increasing with age. Signs and symptoms may not be obvious or dismissed as part of the Down syndrome phenotype. Diagnosis on clinical grounds is therefore not reliable and biochemical screening essential. All babies in the UK are screened for hypothyroidism. Thereafter each district should have a policy for thyroid screening for all children with Down syndrome, either by 2 yearly venous blood estimation of T4, TSH, and thyroid autoantibodies or annual finger-prick dried blood spot TSH. An algorithm to guide management of capillary TSH screening has been produced based on experience in Scotland (see Box 3). Raised TSH capillary samples are checked with venous bloods and most children with TSH 6–10 mU/litre only require surveillance. Transient changes in TFTs may occur, both before and after treatment.

Box 3

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

Adapted from Scottish Down Syndrome Thyroid Screening Group.

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 9–23 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 11–20.9 mU/l, and fT4 normal, child – symptom-free	Recommend L-T4 treatment since therapy is likely to be required eventually. Advise family of alternative – 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.

Hyperthyroidism, although less common, is also more frequently seen in Down syndrome. The Paediatrician should have a low threshold of suspicion for thyroid dysfunction at all times.

People with Down syndrome have increased susceptibility to a variety of autoimmune conditions and it is not unusual for combinations of hypothyroidism, coeliac disease and type 1 diabetes to affect the same child.

Cervical spine disordersa

At all ages people with Down syndrome are at risk for acute or chronic neurological problems caused by cervical spine disorders. In childhood the predominant issue is craniovertebral instability. Hypotonia and ligamentous laxity can cause excessive movement and potential subluxation at atlanto-axial and atlanto-occipital joints. The rare but potentially catastrophic consequences of cervical spine subluxation are well documented.

Identifying those at risk is not straightforward. Around 30% of individuals with Down syndrome have radiological evidence of increased movement at the craniovertebral junction but few have clinical symptoms. Furthermore a normal cervical spine X-ray does not preclude subsequent development of problems. Routine radiological screening for asymptomatic people with Down syndrome is therefore not recommended but emphasis should be on following investigative pathways for those with symptoms. It is essential that healthcare professionals as well as parents, relatives and carers are aware of the following warnings:

•: Neck pain
•: Abnormal head posture
•: Torticollis (wry neck)
•: Reduced neck movements
•: Deterioration of gait and/or frequent falls
•: Increasing fatigability on walking
•: Deterioration of manipulative skills

Anyone with any of these symptoms should be carefully examined and good quality flexion and extension cervical spine X-rays arranged expediently. Those with suspected cervical spine disorder, even with normal X-rays, should be referred to a specialist centre. Increasingly good outcomes following surgical fusion are being reported when timely intervention is performed in experienced centres.

Prior to general anaesthesia attention should be paid to the above warning signs as unconscious children are vulnerable to injury. Pre-operative radiography is not recommended in the absence of clinical concerns.

Asymptomatic children should not be barred from sporting activities because there is no evidence that participation in sports increases the risk of cervical spine injury any more than for the general population. For specialized sports, such as trampolining, the requirements of Local Governing Bodies should be observed (www.british-gymnastics.org e Atlanto-Axial Information Pack).

Ophthalmological problemsa

Ophthalmological problems, including congenital cataracts, nystagmus, squint, glaucoma, keratoconus, blepharitis and blocked nasolacrimal ducts, are over represented in Down syndrome. Refractive errors, including hypermetropia, occur in approximately 70% and if uncorrected constitute a significant cause of secondary handicap.

The possibility of ophthalmic problems should be considered at every review, starting with a check for congenital cataracts in the neonatal examination. After this, the Paediatrician should monitor visual behaviour and refer concerns to an Ophthalmologist. Formal visual assessments (including refraction, fundoscopy and orthoptic testing) are recommended by age 2 and around 4 years old.

Infant refractive errors, which often reduce spontaneously in other children, are likely to persist. Early correction with glasses is therefore recommended, especially as most people with Down syndrome also have difficulty accommodating to focus on near. Near and distance vision should always be checked and a prescription for near correction or bifocals considered at all ages.

Vision should continue to be checked at least every 2 years throughout life. In older children this may be done by a high street Optometrist.

Keratoconus, which causes corneal distortion and poor vision, is prevalent in young adults with Down syndrome (around 15%). Recent advances in collagen cross linkage treatment to halt progression of this condition have highlighted the need for early diagnosis and regular eye examinations in adolescents with Down syndrome.

Hearinga

Over 50% of children with Down syndrome have hearing loss. This is mainly due to otitis media with effusion (OME) but some also have sensorineural deafness. Onset of the latter is often in teenage years, prevalence increasing with age. OME has an earlier age of onset than in other children and often persists into adult life. Those suspected of having OME should be managed by a multi-disciplinary team with expertise in assessing and treating children with Down Syndrome. There is no clear evidence for the best treatment option. Hearing aids (behind ear or bone-anchored BAHA) should normally be offered for OME and hearing loss. They are most likely to be accepted if fitted by a specialist paediatric service, supported by Specialist Teachers for hearing-impaired children.

Surgery is technically difficult due to unusually tenacious glue and narrow ear canals. Though ventilation tubes have a place in management, their benefit is often short-lived. Otorrhoea is common and repeat surgery often necessary.

As for all children, one of the most important factors in managing hearing loss is recognising there is a problem. Regular audiological surveillance throughout life is necessary, beginning with newborn screening. Further review should take place by 10 months. This will need to be done by a specialist audiology service as detailed assessment including otoscopy and impedance testing are needed. After this, preschool children should have their hearing reviewed annually and older children at least biennially.

Sleep related breathing disorders (SRBD)

Children with Down syndrome are at high risk of sleep related breathing disorders which can lead to growth retardation, poor developmental progress, tiredness and lethargy. However these cardinal signs may not be recognized against a background of expected learning disability, cognitive slowness and short stature. There is also a risk of pulmonary hypertension.

The possibility of SRBD should be considered at every review. Interpretation of a history of sleep difficulties is notoriously difficult but diurnal symptoms of restless sleep, snoring and day time sleepiness may be pointers, and observed sleep apnoea is highly suggestive of a significant problem. Because normal oximetry does not exclude obstructive sleep apnoea, Paediatricians should have a low threshold to arrange poly-somnographic sleep studies (and some have argued for screening of all preschool children with Down syndrome).

Many children benefit from adenotonsillectomy but may face more peri-operative complications than other children, and may require access to ITU. If abnormal breathing persists after surgery a trial of mask Continuous Positive Airway Pressure (CPAP) or night-time oxygen may be necessary.

Other respiratory disorders

Respiratory infections are the second most common cause of death (after heart disease) in children under 19 years old with Down syndrome, and respiratory problems the most common primary reason for hospital admission, and prolonged stays including ITU in young children. Contributory factors include hypotonia, obesity, congenital cardiac and airway abnormalities, immunological dysfunction, gastro-oesophageal reflux and dysmotility.

Treatment of one factor alone is often unsuccessful so investigation and management of respiratory symptoms should cover all relevant factors. Many children benefit from a combination of prophylactic winter antibiotics, physiotherapy, aggressive medical management of gastro-oesophageal reflux, immunization, and management of upper airway disease. Asthma is generally over diagnosed in children with Down syndrome and wheeze often has another explanation.

Haematological problems

Abnormalities of the full blood count (FBC) are common in Down syndrome from the neonatal stage onwards (Box 1). Although most changes are benign, 1–2% will develop childhood leukaemia. Neonates should have an FBC, particularly to look for transient myeloproliferative disorder (TMD). This occurs in about 5%, and is typically asymptomatic, resolving spontaneously by 3 months. TMD is significant as around 20% will subsequently develop a specific form of leukaemia, myeloid leukaemia of Down syndrome (ML-DS), before they are 5 years old. ML-DS is a highly treatable, chemo-sensitive leukaemia with an excellent prognosis. Babies with TMD should have repeat FBC at 3 months to confirm resolution. A sick baby with TMD should be referred urgently to a Paediatric Haematologist.

Immune dysfunction and immunization

Increased susceptibility to viral and bacterial infections occurs in Down syndrome, particularly respiratory infection. Reasons for this are multifactorial, but there does appear to be impaired immune function. Children who have recurrent infection should be investigated for underlying cause and treated accordingly.

It is important that babies with Down syndrome are offered primary vaccinations according to the routine schedule. Those with congenital heart disease respiratory problems or prematurity may meet criteria for RSV prophylaxis. Extra immunizations with seasonal influenza vaccine from 6 months of age and pneumococcal vaccine (Pneumovax II) after the 2nd birthday should be considered. Whilst most show a normal vaccine response, decreased response has been reported, and checking of functional antibodies with repeat immunizations for those who have mounted an inadequate response may be advised.

Autoimmune disorders are overrepresented in people with Down syndrome. Type 1 diabetes and thyroid disorders have already been mentioned. Juvenile inflammatory arthropathy (JIA) can be particularly distressing and is known to be underdiagnosed because aspects of the Down syndrome phenotype tend to mask some of the usual presenting clinical signs.

Autistic spectrum disorders

Autistic disorders occur more often in children and teenagers with Down syndrome than other children. This possibility must be considered in any child who is failing to make expected progress in communication and social skills or who shows regression of these skills.

Some children display behaviours typical of autistic disorder as toddlers and follow a course similar to that seen in other children. However regression of social and communication skills may occur in later childhood or adolescence.

Diagnosis is important because when the conditions coexist the management, particularly education, may need to be more specifically geared to addressing the difficulties associated with autism.

Conclusion

Life expectancy of people with Down syndrome has quadrupled 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 their parents. This increased survival is mainly thanks to improved access to cardiac surgery and better management of respiratory infections. It brings with it a challenge for health professionals to optimize the health of people with Down syndrome throughout their lives.

Over the years there have been many claims involving unconventional treatments and nutritional supplements, some aimed at improving general health, and others claiming to ameliorate the learning disability itself. To date none of these has been proven effective. A randomized controlled trial in the UK of early vitamin and mineral supplements showed no benefit to health or general development.

Meanwhile a great deal is already known about the wide range of treatable medical problems that occur more frequently in people with Down syndrome. The most significant benefit that medicine has to offer is quality targeted screening and assessment specific to their needs, and to ensure they are offered the same opportunities for medical treatment as the rest of the population.

Practice points

•: Down syndrome prevalence continues to be around 1/1000 live births in UK.
•: Average life expectancy is now around 60 years.
•: Increased life expectancy is mainly due to improved access to surgery and treatment of respiratory infections.
•: Individuals with Down syndrome vary greatly in personality, ability and general health.
•: As a group they have increased risk of a wide range of treatable medical conditions.
•: Local protocols and pathways should be in place to ensure medical problems are managed and treated, and do not prevent children reaching their potential.
•: Evidence based guidelines from the Down Syndrome Medical Interest Group (DSMIG) are a helpful basis for targeted surveillance.
•: There is still no evidence for unconventional treatments or nutritional supplements.
•: Paediatricians play a key role in management of children with Down syndrome at diagnosis and in coordinating care throughout childhood.

Acknowledgements

We acknowledge with gratitude the contribution not only of members of the UK Down Syndrome Medical Interest Group DSMIG UK but also of the many other clinicians whose ideas and advice have influenced the contents of this article.

Citing articles (1)

Sleep problems and recall memory in children with Down syndrome and typically developing controls
2020, Research in Developmental Disabilities Download PDFView details

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