Cardiovascular

The incidence of CHD in babies with DS is 40-60%. In 30-40% of cases there is a complete Atrioventricular Septal Defect (AVSD). Other common causes of CHD include Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD) and Patent Ductus Arteriosus (PDA). Early diagnosis and referral for corrective surgery is important to reduce the risk of irreversible pulmonary vascular disease (PVD).

All babies with confirmed or suspected DS require:

• clinical examination and auscultation for heart murmurs.

• 4-limb BP

• pre and post ductal saturations

• Electrocardiogram (ECG) if the echo cannot be performed prior to discharge.

• An echocardiogram (Echo) should be performed in all babies with Down Syndrome including those who had a fetal echo but the suggested time frame is dependent upon the clinical findings.

If there are abnormal clinical findings or an abnormal ECG, particularly a superior QRS axis indicative of an underlying AVSD, aim to perform an echo as soon as possible and definitely within 2 weeks of birth.  If they have been discharged home, arrange an urgent outpatient echo with consultant paediatrician (those specialised in cardiac echo).

If there are no clinical or ECG abnormalities arrange an inpatient echocardiogram or outpatient follow-up with consultant paediatrician (those specialised in cardiac echo) as soon as possible and within 6 weeks of birth.

Growth and feeding

Description of feeding including the type, frequency, volume, timing and quality of the suck should be documented. Clearly note the absence of coughing/ spluttering/ choking/ gurgling and cyanosis during feeding.

Factors which can impact on oral feeding include CHD, gastro-oesophageal reflux, hypotonia and respiratory problems. Parents and staff should be advised not to feed in the side-lie position but instead feed with the head above the level of the rest of the body given the risk of gastro-oesophageal reflux and Eustachian tube blockage. 

A standard 23 week-term growth chart should be used if born prematurely. Once they have reached term switch to the Down Syndrome Growth charts kept on the neonatal unit. If the PCHR (red book) insert is available ensure all measurements are plotted on the relevant growth chart.

Weight loss may be more than 10% and it can take longer than 2 weeks to reach birth weight. The majority of babies with DS will be close to the same centile as their birth weight by 4 weeks of age. In cases where there is early weight loss of >10% with a slow recovery or failure to regain birth weight after 4 weeks of age, a thorough clinical review is required to exclude an underlying pathology.

Breastfeeding should be encouraged and supported for all mothers who wish to do so. Please provide additional midwifery support where required.

Refer all babies for a detailed feeding assessment performed ideally by the Infant Feeding Team who are contactable on 02082165141 or rf.bhfeeding@nhs.net at Barnet Hospital. This will be performed as an outpatient unless any of the following are present: an inadequate duration or volume of feed, choking, wheezing, spluttering, weak suck or coughing. In these cases, babies must be referred to the hospital based SLT dysphagia team +/- the infant feeding team.  Have a low threshold for admission to the neonatal unit for naso-gastric feed supplementation if there are any feeding concerns. (See Appendix 3 - Paediatric complex needs and dysphagia speech and language therapy (SLT) service).

Gastrointestinal

There is an increased incidence of gastrointestinal abnormalities in DS which present in the neonatal period or first few months of life. Around 3% have an imperforate anus and this should always be examined for in the NIPE. The incidence of Hirschsprung’s disease is around 2-15%, and may present with failure to pass meconium, constipation, abdominal distension and vomiting. Duodenal obstruction may be present in up to 5% of babies with DS and presents with features of small bowel obstruction. Tracheo-oesophageal fistulas are rare (1%) but require prompt identification and management.

Hearing

50% of individuals with Down Syndrome have significant hearing impairment, either conductive and or sensorineural. Persistent Otitis Media with Effusion (OME) is the most common cause of conductive hearing loss.

All babies will have a Newborn Hearing Screen (NHS) performed prior to discharge. If the NHS is normal, the Community Paediatrician will complete an audiology referral for an assessment at 6 to10 months of age. If the NHS is abnormal please refer to Audiology.

Vision

There is a 10 fold increased risk of cataracts in babies with DS. In addition, there is an increased risk of infantile glaucoma and nystagmus (present in 10% of the population with DS).

As part of the NIPE, be sure to exclude an absent red reflex and nystagmus and clearly document findings on the NIPE proforma and discharge summary. Refer to ophthalmology only if there are any abnormalities detected but there is no requirement for a routine referral.

Haematology

Neonates with DS have recognised differences in their blood cell morphology and counts, which are usually mild and benign and resolve spontaneously by approximately 3 weeks.

Polycythaemia – Approximately 20% of individuals with DS will develop Polycythaemia (Haematocrit> 0.65) as a result of increased intrauterine erythropoiesis. In cases where there is an antenatal diagnosis of DS, avoid delayed cord clamping. For management refer to the local guidelines for ‘Polycythaemia’.

Thrombocytopenia – 50% of babies with DS tend to have a platelet count <150 x 109/L but it is important to consider other causes of thrombocytopenia e.g. Sepsis and IUGR. This tends to be asymptomatic and other than regular monitoring does not require further intervention.

Transient Abnormal Myelopoiesis (TAM) – this condition is unique to Down Syndrome and affects around 10% of babies. All babies with DS require a FBC and peripheral blood film on day 2-3 of life, with a request for a Haematologist experienced at reviewing neonatal blood films to report the film. It is usually asymptomatic and spontaneously resolves by 3 months of age although some can develop severe disease including hydrops fetalis, liver fibrosis, renal disease and cardiopulmonary failure. Clinical features include hepatosplenomegaly, rash and pleural/ pericardial effusions. Later development of Acute Myeloid Leukaemia (AML) occurs in some. 10-20% of asymptomatic cases go on to develop Myeloid Leukaemia of Down Syndrome (ML-DS) in the first 4 years of life and continued follow up is required. (See Appendix 4 – Haematology guidance).

Renal

Babies with Down Syndrome are at increased risk of severe renal and urological abnormalities including, benign renal hypoplasia, obstructive uropathy (Posterior urethral valves), hypospadias and undescended testis (higher incidence of testicular cancers). Ensure the antenatal scans were normal and that baby is passing urine normally; if unsure request a renal ultrasound.

Discharge and follow up

Referrals that must be made:

• Complete the Discharge Checklist.

• Complete the Badgernet or EPR discharge summary if remained on the postnatal ward. Ensure there is sufficient information about feeding and the outcome of the feeding assessment by the Infant Feeding Team or SALT. A copy should be sent to the GP and Health Visitor.

• Local neonatal follow-up within 12 weeks (sooner if clinically indicated, often seen by 6-8 weeks in practice) – this appointment must not be canceled unless discussion has taken place with the community paediatrician and plan agreed. 

• Referral to neonatal community nurses – the community neonatal nurses see babies within a few days of discharge and as frequently as required, with regular weights etc. They work closely with the hospital-based consultant neonatologists/paediatricians highlighting any concerns, providing a close link to families and safety-netting.  This is done verbally by speaking to the neonatal community nurses directly on the neonatal unit.

• Referral to Community Paediatrics using CDT referral form (see Appendix 1 with all CDT contact details) – Community Paediatrician aims to review within 12 weeks from point of acceptance at intake meeting (sooner if clinically indicated). In addition please email a copy of the CDT referral form and the Discharge Checklist to the Intake Co-ordinator at Barnet CDT at rf-tr.childdevreferrals@nhs.net (Tel: 020 7794 0500 ext 26457).  Remember that a CONSENT form is required (CDT referral) by the parent in order to share information with the whole CDT team (GDPR) or referral will be sent back. The CDT referral form encompasses the following services:

  • Paediatric Community Dysphagia team (SLT),

  • Early Years SEND Advisory Team Down Syndrome advisor

  • Paediatric physiotherapy

This is all on the one CDT referral form, however please do specify these teams as well.  At the intake meeting, every new baby with DS will get accepted by community paediatrics, paediatric physiotherapy, Early Years SEND Advisory Team and paediatric dysphagia team (SLT) for assessments.

Referrals that may be required:

If genetic results are awaited, a meeting with a Neonatal Consultant should be organised as an outpatient to discuss the results and ensure all the necessary investigations and referrals have been made.

• Consider Ophthalmology / Audiology referral if any abnormalities.

• Paediatric dietician for children discharged on naso-gastric tube feeding.

  Email: clcht.paediatricnutrition@nhs.net  (Appendix 6)

• Local cardiology follow-up unless there is a normal neonatal echo and clinical examination.

• Consider MASH referral if there are any social concerns.

• Inform the community paediatrician of any A and E attendances or hospital admissions. (See Appendix 7 for infographic on top tips for triaging and children with Down Syndrome and Appendix 44 for acute presentations to A and E in DS and Appendix 45 for resources to make hospital visits easier).

• Provide parents with the resources listed below.

Resources for parents, advice and support. 

• A red book with the Down Syndrome PCHR insert (red book insert). The red books are kept in the office on labour ward, DS growth charts can also be found in the neonatal unit, children’s outpatients and postnatal wards. If no inserts, parents can get a copy from DSA or their health visitor, although best practice is to give these DS inserts before discharge. If the PCHR inserts are unavailable they can be downloaded at http://www.healthforallchildren.com/wp-content/uploads/2013/04/A5-Downs-Instrucs-chartsfull-copy.pdf.  

  In addition to the DS specific growth charts as well as advice for parents regarding feeding, immunisations, development, associated health problems and useful resources.  Red Books are going digital (eRedbook) and the DS inserts need to be incorporated into this e-version.  There is an e-red Book app that parents can download (on Google Play and App Store).

• DSA (Down Syndrome Association) Parent Pack – Copies to be kept on the neonatal unit and handed to parents at discharge. Inform parents that they can become a member of the DSA and receive a hard copy of the parent pack free of charge. (Appendix 8)

• Early Years SEND Advisory Team for Down Syndrome Parents letter containing SEND Advisor contact details should parents have any questions. Upon receipt of the Community Paediatric referral form SEND Advisor is informed of the patient at the Child Development Clinic (CDC) intake meeting and will make contact with the family within 3 weeks of discharge. They will aim to visit the baby and parents or have a telephone consultation whilst they are an inpatient if required. If they wish to speak to a parent of a child with DS the EYSEND Advisor can advise further. (Appendix 9)

• Down Syndrome Heart Group where relevant (Appendix 2)

• Copy of the pathway – available online through the Barnet Local Offer page or can be emailed or printed out.

Additional resources available and depending on need:

• Infant feeding and breastfeeding support information Contact:  Infant Feeding lead (Barnet), Barnet Breastfeeding Project Coordinator, 07815717055. CLCHT.breastfeedingsupport@nhs.net , Breastfeeding Support in Barnet - Home | Facebook   (Appendix 10 for referral form)

• Direct mothers to feeding support groups such as La Leche League and the National Childbirth Trust which contain some specific advice for feeding babies with Down Syndrome.

• Julia's way breastfeeding group BREASTFEEDING PROJECTS — Julia's Way

• Contact a Family information pack “About diagnosis: for families and disabled children” including the information sheets e.g. “Support for fathers, siblings and grandparents.” These documents are available online.

• Positive About Down Syndrome (Appendix 2)

• Barnet Local Offer

• Barnet Children's Integrated Therapies (CIT) (whittington.nhs.uk)

• A letter from a parent (Appendix 11).

• And several other Barnet based support groups and organisations (Appendix 2)