Managing the baby with Down Syndrome a neonatologists

Managing the baby with Down Syndrome; a neonatologists perspective Click. Judith to edit Master Meeksubtitle. UCLHstyle

A journey Antenatal • • Click to edit Master text styles • Counselling Second level Third • level Preparing for surgery/NICU • Fourth level Fifth level Postnatal • • • Confirmed antenatal diagnosis Suspected antenatal diagnosis Diagnosed after birth • Discharge planning • Follow up • Click to edit Master text styles Second level Third level Fourth level Fifth level

Ante natal coun sellin g • Click to edit Master text styles Second level • The Third neonatologist may be the first person to talk about level Fourth level the baby as a child with a future who will play with Fifth level siblings and friends and go to school • Rarely asked to talk to parents considering termination, and if we are, are we the right person to advise about life beyond the neonatal period ? Are we here to put the baby’s case to the parents ? • Neonatologists need to be well informed about current lifestyles and developmental issues

29/12/17

Counselling when baby is going to need surgery/NICU • Click to edit Master text styles • Second Cardiaclevel anomalies VSD/ASD Third • level Fourth level • AVSD Fifth level • Gastro-intestinal • • Click to edit Master text styles Second level Third level Fourth level Fifth level Duodenal atresia Other atresia(s) including ano-rectal malformations Hirschprungs • Pleural effusions/chylothorax

What to expe ct in NICU /CCU • Longer Click to stay edit than Master nontext DS styles babies level • Second More post-op complications Third level Fourth • level Later Fifth level • • • to extubate Risk of pulmonary hypertension Vascular access Expressing milk is important even if not planning to breast feed Early growth may be important in preparation for heart surgery Logistics Other children

Discu ss surge ry/NI CU with unco nfirm ed diagn osis Similar Click to discussion edit Master text styles Second level Be to the fact that diagnosis is unconfirmed although likely Thirdsensitive level Fourth level Be that the diagnosis is sometimes obvious after the baby is Fifth honest level born, but that we will confirm with genetic tests • Discuss tests and how long they take • Reassure parents that the medical and surgical treatment their baby will receive will not depend on the diagnosis • • •

After birth • • • Antenatally Click to edit confirmed Master text styles Second level suspected Antenatally Third level Fourth level Unexpected Fifth level • Any of these can present with a diagnosed or undiagnosed congenital anomaly which might need urgent surgery • Even an antenatal diagnosis may have missed a surgical problem • Examine baby carefully

Post natal supp ort; always confir m with blood test, includi ng FBC and GATA • Diagnosis confirmed antenatally Click to edit Master text styles • Visit Second levelearly and congratulate parents Third • level Examine carefully, not all anatomical problems are detected by Fourth level ultrasound Fifth level • Diagnosis suspected antenatally • • • Visit early and congratulate parents, examine carefully Discuss your findings frankly with parents Be guided by them about how much they want to know straight away This may be informed by antenatal discussions You may need to delay discussions until diagnosis is confirmed Arrange a time to come back and see family again (may include other family members)

Post natal diagn osis; myth s • • Youngtowomen Click edit Master do not text have styles babies with DS Second level You can’t have a DS baby by IVF Third level Fourth level Twins Fifth levelcan’t have DS DS babies are always floppy on day 1 DS babies don’t have enough tone to breast feed DS babies don’t look like the rest of the family Antenatal scans can diagnose every anomaly

The dangers of early postnat al discharg e; increasi ng number of undiagn osed babies attendi ng A&E with complic ations • Click to edit Master text styles Second level • • • Third level Fourth leveloften look dysmorphic after a long labour Babies Fifth level Some babies seem to have high tone on day 1 Antenatal history is not always available Not all families speak medical English Not all congenital heart disease presents with a murmur Many babies do not open their bowels on day 1

What do you do if you susp ect a new baby has Dow n Synd rome ? • • • Give the Click to edit baby Master to mother text styles to hold Second level Follow Third levelthe mother and baby dyad’s cues Fourth level In Fifthother level words; do the same as you would for other mothers and babies • Refer to the most senior neonatologist available who can talk to the family and examine the baby as soon as possible • If you need an interpreter, arrange this urgently

Don’t forge t to take a prop er histo ry • • • Risk of Click tosepsis edit Master text styles Second level Maternal hypoglycaemia Third level diabetes/beta blockers Fourth level Fetal distress/meconium Fifth level Delayed cord clamping (maybe not appropriate for DS babies) Breech with risk of CDH • In other words; the same as every other baby

Early post natal diagn oses you shoul dn’t miss • • Airway Click to obstruction/apnoea edit Master text styles Second level Cyanotic Third level congenital heart disease/ LV outflow tract obstruction Fourth level Pulmonary hypertension Fifth level Polycythaemia (and resulting jaundice) Hypoglycaemia due to above and to poor feeding Hypocalcaemia Hypothyroidism TAM (although low platelets are common without TAM)

Thing s not to say • • • ‘These Click tochildren…’ edit Master text styles Second level He’ll never be normal Third level Fourth level He’ll never be able to do … Fifth level Down Syndrome children are always happy He’ll never breast feed It’s because of your age (remember that most DS children are born to younger mothers)

Whe re to care for moth er and baby • Try Clicknot to to edit separate Master mother text styles and baby Second levelafter birth • Just Third level • level On post natal/transitional care ward Fourth Fifth • level. Post-op • Design a feeding plan that works for mother and baby • • Listen to mother’s preferences Involve SALT early Balance getting home with desire to breast/tube/bottle feed Consider achieving target weight for cardiac surgery • Continue to provide information at the family’s pace

Feedi ng and fluids • • • Firstly safetext styles Click tokeep editbaby Master Second level IV access can be difficult especially if baby is dehydrated Third level Use Fourth. NG levelfeeds or UVC early Fifth level • • • Be flexible according to mother’s wishes Sometimes it is better to tube feed for a bit longer to achieve breast feeding Sometimes it is better to top up with bottles to get home sooner Small babies awaiting cardiac surgery will need high energy supplements Any baby with shortness of breath has increased calorific requirements

Be well orga nised • Checklist; Click to edit this Master shouldtext be styles in your local guidelines Second level tests • Blood Third level • level Referrals for eye and ear checks Fourth Fifth • level. Echo • Red book • Use interpreters if necessary. If in doubt book one. • Arrange times and rooms to speak to the family. This may need to be after work for the baby’s father • Use up to date written information, translated if necessary

Disch arge plan ning • • • Plan Clickahead to edit Master text styles Second Includelevel family and all relevant professionals, be clear about roles Third level Good documentation/communication Fourth level Fifth level • • Pitfalls Address of family and GP in different areas. Difficult to co-ordinate care between commissioning groups Discharge from postnatal, ward without support of NNU team is more difficult and babies are not recorded on SEND Discharged by surgical team

Follo w up • Specific Click to edit Master text styles • Cardiac/diuretics/U&E’s Second level Third • level Collating results eg GATA Fourth level Fifth • level. Out patient appointments with specialists • Liaising with community team • General • • • Growth & development Blood tests Eye & ear referrals

Ongoi ng role of the neon atolo gist • • • • Developmental follow up specialist Click to edit Master text styles Second levelwith special interest Consultant Third level Co-ordination and filling in gaps Fourth level Fifth • level. Maintaining a long term relationship • • Point of contact for arranging investigations in hospital Support during hospital admissions • Celebrate milestones and achievements • If we follow children along their journey we will be more effective in supporting families in the future