B
BUDDSBarnet Unified Document
for Down Syndrome
What to Expect: Prior to Discharge

What to Expect: Prior to Discharge

Guidance and information for the period prior to discharge with Down Syndrome care

Further Considerations, Examinations, Investigations and Referrals

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 are 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.
  • An electrocardiogram (ECG) is required if the echo cannot be performed before 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 a consultant paediatrician (those specialised in cardiac echo).

If there are no clinical or ECG abnormalities, arrange an inpatient echocardiogram or outpatient follow-up with a 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-lying 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. The infant feeding team is comprised of a Specialist Health visitor for Infant and breastfeeding and Breastfeeding Support Workers.

Contacts & Further Information

For other concerns, 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 Dysphagia, Speech and Language Therapy (SLT)).

Gastrointestinal

There is an increased incidence of gastrointestinal abnormalities in DS, which present in the neonatal period or the 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 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 before discharge. If the NHS is normal, the Community Paediatrician will complete an audiology referral for an assessment at 6 to 10 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 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 the baby is passing urine normally.

Discharge and Follow Up

Referrals that must be made

  • Complete the Discharge Checklist.
  • Complete the Badgernet or EPR discharge summary if the patient 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, typically seen by 6-8 weeks in practice) - this appointment must not be cancelled unless a discussion has taken place with the community paediatrician and a plan has been agreed upon.
  • 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 Barnet Child Development Team Referral 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 to share information with the whole CDT team (GDPR), or the 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 the 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.

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 the 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 here: Extra pages for your baby's Personal Child Health Record Book. 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 (See Growth Charts and Inserts for Red Book).
  • Early Years SEND Advisory Team for Down Syndrome Parents, a letter containing the 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 (See Big DS Hub).
  • Down Syndrome Heart Group, where relevant (See Resources for Families and Professionals).

Additional Resources Available Depending on Need

Trisomy 21 Discharge Checklist

Communication with Parents

  • Consultant Review with parents to explain the diagnosis and answer questions.
  • Down Syndrome Association parent pack to be given to parents.
  • If copies are unavailable, parents are advised to become a DSA member to receive a free copy (See Resources for Families and Professionals).
  • PHCR (red book) with the Down Syndrome insert given to parents.
  • Growth parameters to be plotted on the Down Syndrome-specific growth chart (For Inserts - see Growth Charts and Inserts for Red Book).
  • Safety Netting Advice.
  • Focusing on feeding, cardiac complications and the importance of seeking help early if there are signs of infection (see Top Tips for Triaging and Treating Kids With DS - infographic on infection, which can be given to parents and see Dysphagia, Speech and Language Therapy (SLT) on feeding).
  • Early Years SEND Advisory Team postcard given to parents (See Big DS Hub).
  • Provide a copy of the pathway - either via a link to the Barnet local offer, via email or a printed copy.

Examination

  • Examination by a Registrar/Consultant confirming features of Trisomy 21.
  • NIPE.
  • Passed meconium.
  • Pre/post ductal saturations, 4 limb BPs.
  • Feeding Assessment by Infant Feeding Team (IFT) +/- SLT.
  • Newborn Hearing Screen.

Blood Tests/Imaging

  • Confirmatory genetics - FISH and Full Karyotype.
  • Full Blood Count with blood film.
  • TSH is part of the Guthrie card.
  • ECG if an echo has not been performed before discharge.
  • Echo - within 2 weeks if abnormal clinical findings or ECG, otherwise within 6 weeks.
  • Day 5 Blood Spot.

Referrals

  • Community Paediatrics referral - Email the referral, in addition to this discharge checklist and parental consent form, to rf-tr.childdevreferrals@nhs.net.
  • Infant Feeding team/ Speech and Language Therapist (dysphagia) referral.
  • Health Visitor and GP informed via Discharge SEND or discharge summary.
  • Referral to the neonatal community nursing team for all babies with DS.
  • Referral to paediatric dietician if going home on NG feeding.
  • Local cardiology follow-up if the echo is not completed, or an abnormality is found.
  • Local neonatal follow-up within 3 months (sooner if clinically indicated).
  • Ophthalmology follow-up required if problem with red reflexes/ nystagmus/ other eye abnormality- Must document your findings in notes and discharge paperwork - low threshold for referral - senior paediatrician to decide if referral needed at this stage.
  • MASH referral if there are any social concerns.
  • Referral to urology if antenatal renal Ultrasound is abnormal.