Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

newborns

1st line – assessment ± specialist consult for medical conditions associated with Down's syndrome

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ACUTE
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newborns
1st line – 

assessment ± specialist consult for medical conditions associated with Down's syndrome

Noting specific medical conditions that are associated with Down's syndrome (DS) is important.[17][28] Some infants with DS or mosaic DS may not have the constellation of physical characteristics but present with these associated medical conditions.

About 50% have a congenital heart disease (CHD).[17][28] Atrioventricular septal defect is the most common form of CHD in DS (31% to 61% in population-based studies of CHD subtypes in DS), with a much higher prevalence than in the general population.[33] Evaluation by a paediatric cardiologist, including echocardiogram, is recommended in all newborns with DS (even in the absence of a murmur), with emergency therapy instituted as necessary.[17]

Abdominal x-ray is indicated in infants with DS if congenital gastrointestinal (GI) obstruction is suspected, including duodenal or anal stenosis or duodenal or anal atresia (5%).[30] A gastroenterology specialist and surgeon should be consulted if a congenital GI defect is suspected.

Plus – parental genetic counselling

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ACUTE
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newborns
Plus – 

parental genetic counselling

Treatment recommended for ALL patients in selected patient group

Once Down's syndrome (DS) is diagnosed, it is imperative that parents receive genetic counselling and up-to-date information relating to DS. The geneticist and/or genetic counsellor reviews the chromosome results, and explains the rates of recurrence in future pregnancies and availability of testing options in future pregnancies. Families of a child with a new DS diagnosis should be provided with contact information to local parent support groups and be connected to a local DS clinic. Physicians should also provide parents with up-to-date printed material and resources. A directory of local support groups can be located through support group association internet resources. These include the Down's Syndrome Association, NHS choices, the National Down Syndrome Society, and the National Down Syndrome Congress.[19] National Down Syndrome Congress Opens in new window​​ Down's Syndrome Association Opens in new window NHS Choices: Down's syndrome Opens in new window National Down Syndrome Society Opens in new window

ONGOING

children

1st line – early interventional therapies

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ONGOING
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children
1st line – 

early interventional therapies

Early intervention programmes for infants and toddlers with developmental delay are recommended with focus on gross motor, fine motor, language, and social development.[17]

The goal of physiotherapy is to ensure that the child avoids developing abnormal compensatory movement for physical limitations (e.g., hypotonia, ligamentous laxity, decreased strength, and short arms and legs relative to trunk length).[50]

Occupational therapy facilitates development of fine motor skills and mastering daily living skills for independence, including feeding, dressing, writing, and playing. Infants with Down's syndrome who have hypotonia and feeding issues may receive occupational therapy with a focus on oral-motor exercise.

Speech and language intervention should begin early and involve the family. The child's learning style should be considered when designing a language intervention programme. Pre-language and pre-speech skills can be addressed even before the child is ready to communicate verbally.[51]

Plus – individualised educational plan

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ONGOING
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children
Plus – 

individualised educational plan

Treatment recommended for ALL patients in selected patient group

Designed to address the child's needs with appropriate educational and therapeutic support. A comprehensive psycho-educational evaluation of the child's cognitive, achievement, and adaptive skills must be carried out to determine strengths and challenges.

Successful transition from childhood to adulthood requires a functional curriculum in a natural and integrated setting with appropriate services in the least restrictive setting. Should include an individualised transition planning process and placement in an employment programme, with coordination between the educational setting, employment agencies, parents, and the young adult.[53]

After high school, individuals with Down's syndrome may pursue post-secondary education in academic programmes, vocational or training programmes, or programmes with a combination of academic and vocational training. Depending on skills, employment options include competitive employment, supported employment, and sheltered employment.[35]

Plus – ongoing monitoring for complications

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ONGOING
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children
Plus – 

ongoing monitoring for complications

Treatment recommended for ALL patients in selected patient group

Children with Down's syndrome should receive the same preventive health care as any child, with additional monitoring as indicated. For example, those with Down's syndrome have a higher frequency of congenital and acquired medical conditions, including audiological, vision, gastrointestinal, haematological, and thyroid issues. Physicians should also continue to monitor the child's developmental, educational, behavioural, and social functioning.[17]

See Monitoring for full details.

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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