Congenital disorder arising from a chromosome defect
Majority due to trisomy of chromosome 21
4% translocations
1% mosaics
Antenatal screening and subsequent termination of pregnancies results in incidence at birth of 0.8/1000
Incidence increases with increasing age of mother from 1:1500 at aged 20 yr to 1:100 aged 40 yr
DIAGNOSIS
Antenatal
Confirm cases identified through antenatal screening/high-risk women by amniocentesis/chorionic villi sampling
Arrange for parents to be seen by neonatal/paediatric consultant
Complete local paediatric alert register for postnatal care
Give parents opportunity to visit NNU
if visits not possible direct parents to virtual tour (if available)
Postnatal
Approximately 30% of cases are not identified before birth – mainly due to screening declined/not undertaken
If suspected on newborn and infant physical examination (NIPE), request immediate detailed clinical examination by paediatrician/advanced neonatal nurse practitioner
Identify any urgent medical needs (e.g. feeding, cardiac or respiratory problems)
Consultant paediatrician to discuss testing with parents
Send EDTA blood sample to regional genetic laboratory for confirmation by testing QF-PCR
referral laboratory will request lithium heparin sample for karyotyping if necessary
Parent consultation
Parents may have conflicting emotions
Parents to be seen by consultant:
antenatally diagnosed: ≤24 hr of birth
postnatally diagnosed: ≤24 hr of suspicion
use interpreter for non-English speaking parents
if possible/appropriate both parents to be present during consultation
deliver explanation of baby’s features and diagnosis sensitively
give parents time to absorb information
Repeat visits may be necessary to deal with questions and distress
If possible, same consultant to continue to see baby and parents until discharge
if not possible, named/follow-up consultant must have clear handover
INITIAL MANAGEMENT
Age
Professional
Tasks
Birth
Consultant paediatrician/ neonatologist
Neonatal examination
QF-PCR genetic testing +/- karyotyping to confirm Down’s syndrome
Blood for chromosomes, FBC and manual blood film for peripheral blasts
if blasts present discuss with paediatric haematologist
Counselling of parents by consultant (see Parent consultation)
Notify midwife, obstetrician, GP, and health visitor
Cardiac assessment including:
pre and postductal pulse oximetry
ECG (if available locally) – discuss with consultant
if cardiac symptoms/signs or abnormal ECG, detailed clinical cardiac examination including echocardiogram within 2 weeks
if no cardiac symptoms and normal ECG, cardiac review and echocardiogram within 4–6 weeks
Gastrointestinal atresia – observe for vomiting (bile stained)
Hirschsprung’s disease – ensure meconium passed ≤24 hr of birth
Visual assessment:
check visual behaviour and red reflexes for congenital cataract and nystagmus
if concerns refer to ophthalmologist
Follow-up with a paediatrician/neonatologist
Refer to community paediatric team with detailed summary and copies of all other referrals (e.g. ophthalmology, cardiology)
Discuss referral to early support services
Nurse specialist/dietician to provide feeding advice
Speech and language assessment/therapy referral where necessary
Provide parents with information and/or additional sources of help and advice
Replace growth charts in Personal Child Health Record (PCHR) and notes with specific Down’s syndrome insert/chart and plot growth parameters
Check automatic referral to audiology has been made
≤5 days
Midwife
Risk of congenital hypothyroidism – ensure heel prick test performed
2–4 weeks
Consultant paediatrician
Follow-up appointment
Review parental concerns and medical history, particularly cardiac symptoms, feeding and bowel habit
Ensure Down’s syndrome insert in PCHR and growth parameters plotted on Down’s syndrome growth chart
Cardiac examination
check seen in cardiology clinic
Examine eyes for cataract and nystagmus
Verify results of TSH screen
Check referral to child development centre
If concerns refer to dietician and community speech and language therapy (SALT)
6 weeks
Health visitor/GP
Routine Child Health Service – primary birth visit
Plot growth on Down’s syndrome chart
Issue Down’s syndrome specific pages and growth chart for PCHR if not already issued
8 weeks
Health visitor/GP
Primary immunisations
3–4 months
Paediatrician/community paediatrician/child development centre
Initial assessment
Developmental assessment Refer to physiotherapy as appropriate
Ensure referred to ophthalmologist and SALT
Review newborn hearing screening programme results (in PCHR)
Hearing screening
if no clear bilateral or unilateral response: refer for audiological assessment
if bilateral clear response: ensure referral for targeted follow-up aged 7–9 months
Refer to early support services
TSH, FT4 and thyroid antibodies
Complete neonatal checklist for management of babies with Down’s syndrome (if available locally)
LATER REVIEWS
At all stages review/discuss:
parental concern
developmental progress
growth using specific Down’s syndrome chart
hearing and visual problems
Formal ophthalmological and audiology assessment every 2–3 yr
more often if abnormal
Copy clinic letters to parents and all professionals involved
Age
Review/action
9 months
Follow surveillance check list, if available locally
Exclude squint
Audiology assessment
Developmental progress
12 months
TSH, FT4 and thyroid antibodies, then annually
if TSH levels elevated/positive antibodies present, discuss with endocrine team
18 months
Developmental progress review
discuss schools/nurseries as appropriate
Monitor growth and plot on Down’s syndrome chart every visit
Check dental health and refer to specialist community paediatric dentist
Check gastrointestinal symptoms – constipation/diarrhoea, increased risk of coeliac disease
If symptoms of obstructive sleep apnoea present refer to ENT team
Assess gait, bowel and bladder function
risk of atlanto-axial subluxation – suspect if new symptoms of gait disturbance, abnormal neck posture and/or deterioration in bladder/bowel function
Increased incidences of:
type 1 diabetes (10 x normal)
autism
leukaemia
Advise parents about relevant benefits e.g. disability living allowance (DLA)
DLA has 2 parts - care and mobility
all children with Down’s syndrome will eventually receive DLA
advise parents to consider application when child requires more help than children of a similar age (local authorities have denied applications on the basis that a baby with Down’s syndrome has the same needs as any other baby)
application for mobility element of DLA can only be made when child aged ≥3 yr
Give information about local and national Down’s syndrome support groups