1. Promoting Health and Well-being for Children with Down Syndrome Babies and Young Children Liz Marder Trondheim 2014

2. In this talk I will focus on Why it is important to consider medical issues in People with Down syndrome Some of the important health issues in young children with Down syndrome Work in the UK to increase awareness of these issues amongst health professionals provide information for parents Specialist service provision

3. “ Down syndrome is not a medical condition but represents a common variation of the human form created through a genetic accident in nature ” Richard Newton 1992

4. Why do we Need to Specifically Consider the Needs of Children with Down Syndrome? More likely to be born with anomalies affecting function More likely to develop a range of medical problems Learning disability may make it less likely for individual to complain of symptoms “Diagnostic Overshadowing” symptoms assumed to be “ part of the syndrome ”

5. Promoting Health and Well being – what can a doctor do? Help make initial diagnosis Give information about Down syndrome Screen for likely medical problems Diagnosis of medical problems that arise Treat treatable problems Manage symptoms for all other problems Review development Referrals for therapy

6. Ensure that no-one suffers unnecessarily from treatable symptoms, or fails to reach their potential because of treatable medical problems.

7. Medical Problems More Common in People with Down Syndrome Cardiaccongenital malformations cor pulmonale acquired valvular dysfunction Orthopaediccervical spine instability hip subluxation/dislocation patellar instability scoliosis metatarsus varus, pes planus ENTconductive hearing loss sensorineural hearing loss upper airway obstruction chronic catttarh Endocrinegrowth retardation hypothyroidism hyperthyroidism diabetes Opthalmicrefractive errors blepharitis nasolacrimal obstruction cataracts glaucoma nystagmus squint keratoconus Gastrointestinalcongenital malformations gastro-oesophagal reflux Hirschprung ’ s disease Immunologicalimmunodeficiency autoimmune diseases e.g. arthropathy, vitiglio, alopecia Haematologicaltransient neonatal myeloproliferative states leukaemia neonatal polycythaemia Dermatologicaldry skin folliculitis vitiglio alopecia Neuropsychiatricinfantile spasms and other myoclonic epilepsies autism depressive illness dementia (adults only)

8. Newborn period Congenital heart disease Gastrointestinal problems Cataracts Transient Abnormal Myelopoeisis Prolonged jaundice Poor feeding Slow weight gain

9. Health Issues in childhood Hearing Vision Gastrointestinal problems –Reflux –Constipation Coeliac disease Sleep disordered breathing Infections Epilepsy –Infantile spasms Autoimmune disorders –diabetes –Thyroid disorder –Vitiligo –Alopecia Haematological disorders Cervical spine instability

10. How can we ensure people with Down Syndrome get appropriate medical intervention? Information and training for professionals Information for parents, carers and people with Down syndrome Guidelines Specialist Services

11. How can we ensure people with Down Syndrome get appropriate medical intervention? Information and training for professionals Information for parents, carers and people with Down syndrome Guidelines Specialist Services

12. The Down Syndrome Medical Interest Group (UK) is a group of health professionals whose aim is to ensure equitable provision of medical care for all people with Down syndrome in the UK and Republic of Ireland.

13. About DSMIG (UK) Over 150 members, all health professionals Mainly UK and Republic of Ireland Mainly paediatricians Twice yearly members meetings Occasional larger meetings Information Service Individual queries Database of specialists Reference library Website www.dsmig.org.uk Evidence based surveillance guidelines PCHR Insert

15. www.dsmig.org.uk Medical Library Index of medical information developed specifically by DSMIG and key articles and resources from other sources. DSMIG Information Resources PCHR insert Growth charts Guidelines for basic essential medical surveillance Clinical awareness notes Keypoint summaries Conference papers Book reviews by DSMIG experts Resources Suitable for Parents & Carers Identified throughout by “parent-friendly” icon Full Information on DSMIG Activities Secure Members Area Membership list Summary papers and information from DSMIG scientific meetings

17. How can we ensure people with Down Syndrome get appropriate medical intervention? Information and training for professionals Information for parents, carers and people with Down syndrome Guidelines Specialist Services

18. Parent Resources

20. PCHR Insert for Babies Born with Down Syndrome Areas covered are: General information re Down syndrome expected developmental progress possible health problems suggested schedule of health checks advice re immunisation, feeding and growth Down syndrome specific growth charts Sources of additional help and advice

21. The following are suggested ages for health checks. Check at any other time if there are parental or other concerns Birth to 6 weeks 6 - 10 months12 months 18 months to 2½ years 3 - 3½ years 4 - 4½ years Thyroid blood tests Routine Guthrie test Thyroid blood tests including antibodies If your area has introduced fingerprick blood tests these should be done every year Growth monitoring Length and weight should be checked frequently and plotted on Down syndrome growth charts. (see page 9 onwards) Head circumference should be checked at each routine medical check. Length and weight should be checked at least annually and plotted on Down syndrome growth charts. Eye check Visual behaviour. Check for congenital cataract Visual behaviour. Check for squint Visual behaviour. Check for squint. Orthoptic examination, refraction and ophthalmic examination. Visual acuity, refraction and ophthalmic examination Hearing check Neonatal screening, if locally available Full audiological review (hearing, impedance, otoscopy) Full audiological review (hearing, impedance, otoscopy) annually Heart check and other advice Echocardiogram 0-6 weeks or chest X- ray & ECG at birth and 6 weeks dental advice

22. How can we ensure people with Down Syndrome get appropriate medical intervention? Information and training for professionals Information for parents, carers and people with Down syndrome Guidelines Specialist Services

23. Aim to ensure: Equitable provision of basic essential medical surveillance for all children with Down syndrome in the UK and the Republic of Ireland DSMIG Guidelines for basic essential medical surveillance

24. DSMIG Guidelines for basic essential medical surveillance Cardiac Vision Hearing Cervical spine instability Thyroid disorder Growth

26. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN SYNDROME. CARDIAC DISEASE One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group Revised 2007

28. Congenital Heart Disease in Children with Down Syndrome 40-50% children with Down syndrome AVSD 30-40% VSD 20-30% Valve defects 10-15% PDA 5-10% T.O.F 5 %

29. The normal heart

30. AVSD

31. Special Considerations Right to have full treatment Defects are complex Without surgery, increasing disability and decreased life expectancy Complications tend to occur earlier (pulmonary hypertension ) Evidence for better outcome if surgery < 4 months

32. How should we screen for congenital heart disease? 1000 newborns with Down ’ s Syndrome 200 with AVSD NILCXRCXR + ECGECGExamination 60 30% 34 17% 30 15% 200 100% 78 39%

33. Diagnostic Key Points Clinical examination alone is insufficient Chest X Ray is not useful for diagnosing AVSD ECG - superior QRS axis in AVSD Neonatal echocardiography - most effective single diagnostic procedure Neonatal echocardiography must be carried out by an appropriately trained person Not foolproof even with experts DSMIG Guidelines for basic essential medical surveillance Cardiac

34. DSMIG Guidelines for basic essential medical surveillance - Cardiac The cardiac status of every child must be established by age 6 weeks All babies -neonatal paediatric examination +ECG If clinical or ECG abnormalities refer for ECHO and expert assessment by 2 weeks If no clinical or ECG abnormalities refer for ECHO and expert assessment by 6 weeks Continuing clinical vigilance

35. DSMIG Guidelines for basic essential medical surveillance Cardiac Late diagnosis –immediate ECG and clinical examination then accelerated referral for ECHO and expert assessment Pre-natal diagnosis –follow neonatal pathway Older children with no previous ECHO –no symptoms or signs + normal ECG – routine referral –symptoms and/or signs + ECG changes – urgent referral Agreed screening protocol needs to be in place

36. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN SYNDROME. OPHTHALMIC PROBLEMS One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group (Revised 2012)

37. Ophthalmic Problems cataract1 -5% neonates squintcommon refractive errors50% by age 4 Corneal problems5% keratoconus blepharitis30% Nystagmus10%

38. Basic Medical Surveillance Essentials Key PointsOPTHALMIC PROBLEMS Refractive errors (inc. hypermetropia) common from early childhood significant cause of preventable secondary handicap Cataract, glaucoma and nysatgmus may occur in infancy Keratoconus common in adults Newborn check for cataract. 1st year visual behaviour to be monitored by a paediatrician. Refer any concern including squint 2nd year full opthalmological review: orthoptic assessment refraction fundus examination 4 years repeat full review Throughout life 2 yearly If pain, and/or changing vision and/or red eye, refer urgently for specialist opinion.

39. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN SYNDROME. HEARING IMPAIRMENT One of a set of guidelines drawn up by the Down Syndrome Medical Interest Group (Updated 2007)

40. Hearing Problems in Children with Down Syndrome Common problem > 50% conductive ~20% sensorineural (55% adults) Importantlanguage development difficulties with auditory processing “double handicap” social isolation TreatmentMedical no hard evidence of efficacy non invasive future ? Surgical invasive difficult results disappointing (59% complications av.3 redo’s) Hearing aids non invasive good results Dilation of EAM by mould may facilitate surgery

41. Basic Medical Surveillance Essentials Hearing Screening protocol Neonatal screen 6-10 months – Review for all regardless of neonatal findings: Auditory thresholds/Impedance tests/Otoscopy By 10 months established whether or not there is hearing loss, a management plan agreed and intervention instigated where necessary 15-18 months-Review for all. Auditory thresholds/Impedance tests/Otoscopy 2-5 years - Annual review as above. Thereafter 2 yearly for life, or more often if there are problems.

42. Newborn period Congenital heart disease Gastrointestinal problems Cataracts Transient Abnormal Myelopoeisis Prolonged jaundice Poor feeding Slow weight gain

43. Health Issues in childhood Hearing Vision Gastrointestinal problems –Reflux –Constipation Coeliac disease Sleep disordered breathing Infections Epilepsy –Infantile spasms Autoimmune disorders –diabetes –Thyroid disorder –Vitiligo –Alopecia Haematological disorders Cervical spine instability

44. How can we ensure people with Down Syndrome get appropriate medical intervention? Information and training for professionals Information for parents, carers and people with Down syndrome Guidelines Specialist Services

46. Nottingham Down syndrome Children’s service Antenatal diagnosis DS Home visit with HV at approx 2/52 Information/counselli ng Pregnancy terminated Pregnancy continued Diagnosis DS made at birth Initial Visit by DS team ASAP Follow –up arrangements agreed Following Nottingham Guidelines for Management of Children with DS Follow up at Nottingham Down’s syndrome Children’s Clinic Follow up community paediatrics Follow up Hospital Paediatrics Follow up GP

47. Reviews at Birth ( postnatal ward or baby unit) 2-4 weeks (home visit) 3months 6 months 1 year 2 years 3 years 4 years 5 years

48. Nottingham Down Syndrome Children’s Service Initial Visits Paediatrician from Down syndrome team NNU/Postnatal ward or home Information re: DS and local services Welcome Pack- DSA leaflets, PCHR insert, invitations to clinic Parents Book Videos re: coming to terms Agree follow up plan

49. Nottingham Down Syndrome Children ’ s clinic Child Development centre First Wed morning each month Drop – in Information office/library Children seen at 3,6 12 months and then annually Formal review of each child at 3 years with Team around the Child meeting

50. Nottingham Down Syndrome Children ’ s clinic Staff –Doctors Paediatricians Specialists e.g.immunologist, cardiologist –Nurses –Playteam –Physio –SALT –Dentist available Links with –Eye clinics –CHAC(hearing) –Welfare Rights advice

51. Nottingham Guidelines for the Management of Children with Down Syndrome Neonatal Diagnosis and Disclosure Parents told as soon as possible, by a Senior Paediatrician Don’t delay for chromosome confirmation Down syndrome service team involved Medical History and Examination Routine neonatal examination particular attention to conditions common in Down Syndrome –bowel atresias – Hirschprung’s –Cardiac defects –cataracts

52. Nottingham Guidelines for the Management of Children with Down Syndrome Neonatal Investigations Chromosomes Full blood count Thyroid screen: Routine newborn screen is satisfactory, Cardiac assessment Echocardiogram or ECG and pre- and post-ductal O2 Neonatal hearing screen Referrals/notifications to be arranged by neonatal team Primary Care team (GP and Health Visitor) Community Midwife Obstetrician Down Syndrome Team

53. Nottingham Guidelines for the Management of Children with Down Syndrome One Year Review Discussion  Parental concerns  Developmental progress  General health- respiratory, cardiac, or bowel symptoms  Any unusual or recurrent infections  Sleep-related upper airway obstruction  Behaviour  Therapy and educational input  DLA and other benefits  Cervical spine / atlanto-axial instability -information leaflet  Discuss immunisation routine plus annual influenza vaccine

54. Nottingham Guidelines for the Management of Children with Down Syndrome One Year Review General physical examination but focus on  Growth - Plot on the Down Syndrome charts  Cardiovascular  Neurological  ENT  Eyes Investigations  Audiological assessment  Thyroid function tests  Immune function ( at least 4 weeks after completion of primary immunisation course)

55. Ensure that no-one suffers unnecessarily from treatable symptoms, or fails to reach their potential because of treatable medical problems.

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