Combined Child Health Service

Down’s Syndrome

Diagnostic and Patient Care Pathways

Diagnosis to School Leaver

November 2008

Combined Child Health Service

Table of Contents

Pathway 1

Antenatal Screening

Guidance on use of Antenatal Screening Pathway

Blood Test

Diagnostic Test

Combined Ultrasound and Biochemical (CUB) Screening

Pathway 2

Diagnostic Pathway

Pathway 3

Pre-School Patient Care Pathway

Guidance on the use of Pre-School Down’s Syndrome Diagnostic and Patient Care Pathway

Antenatal Screening and Testing

Down’s Syndrome

Types of Down’s Syndrome

Physical features associated with Down’s Syndrome

Birth of Baby

Information for Parents

Neonatal Medical Assessment by Paediatrician

Primary Health Care Team

Universal Child Health Screening

Social Work Department

Management by Specialist Services

Refer to Child Development Service

Developmental Assessment

Education

Joint Assessment of Needs / Integrated Assessment

Individual Educational Plan/ Co-ordinated Support Plan

Key worker

Regular Review

Pathway 4

School Aged Patient Care Pathway

Guidance on the use of School Age Down’s Syndrome Patient Care Pathway

Health

Universal Child Health Screening

Social Work

Education

Joint Assessment of Needs / Integrated Assessment

Individual Educational Plan / Co-ordinated Support Plan

Key worker

Review

Transfer to Adult Services

Annex1

Down’s Syndrome – Grampian Schedule of Health Checks

Annex 2

Down’s Syndrome – Child Development (DSMIG 2000)

References:

Working Group Members

November 2008

Combined Child Health Service

Pathway 1

Antenatal Screening

Guidance on use of Antenatal Screening Pathway

In Scotland all pregnant women are eligible for antenatal screening. Screening tests are not compulsory, they are offered to assist individuals make an informed choice about the health of their unborn baby. The emphasis should be on offering screening and diagnostic tests to women in order to detect where possible any fetal abnormities at an early stage.(NHS Quality Improvement Scotland 2005)

Blood Test

All pregnant women are offered maternal serum screening at 16 weeks of pregnancy. A blood sample is obtained to test for proteins and hormones; these are normally alphafetoprotein (AFP) and human chorionic gonadotrophin (hCG). The level of these proteins and hormones are assessed along with the age of the mother and stage of pregnancy to indicate the ‘risk’ of the baby having Down’s Syndrome.

A low risk result is a risk higher than 1:250 chance of the baby having Down’s syndrome. This does not mean that there is no risk of the baby having Down’s syndrome, it means that it is unlikely.

Women in this category will be informed of the result when next seen by the midwife and will not be offered a diagnostic test.

A high risk result is a risk lower than a 1:250 chance of the baby having Down’s syndrome.This does not mean that the baby definitely has Down’s syndrome. Women in this category will be informed by letter and given an appointment to attend the Day Ward to explain and discuss the results and offer further diagnostic testing.

Diagnostic Test

There are two tests available:

  • Amniocentesis can be performed from 16 weeks of pregnancy. This is when a needle is passed through the woman’s abdomen and into the womb to collect some amniotic fluid which is sent for chromosome karyotyping. There is a 1% risk of miscarriage from this procedure.
  • Chorionic Villus Sampling (CVS) is performed from 11-14 weeks of pregnancy. This is when cells are taken from the placenta and sent for chromosome karyotyping. In Grampian CVS is available if the women have had a previous child with Down’s Syndrome and have requested an early diagnostic test.There is a 1-2% risk of miscarriage from this procedure.

The rapid test (PCR test) results for Down’s Syndrome take three-five working days and a complete chromosome analysis can take up to three weeks.

If Down’s Syndrome is diagnosed this should be discussed fully with the parents and help and advise offered to allow parents to make an informed decision on whether to continue with the pregnancy or terminate the pregnancy.

Combined Ultrasound and Biochemical (CUB) Screening

This test is available privately in Grampian. It is also offered to women who have had a baby with a previous chromosome problem or if the woman has a multiple pregnancy.

The CUB screening test is carried out at 11-14 weeks of pregnancy. This test is a combined nuchal translucency (NT) ultrasound scan and blood test. During the scan the amount of fluid lying under the skin at the back of the baby’s neck is measured. A blood sample is obtained and tested for human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein (PAPP-A) levels.

A computer programme uses these measurements, the size of the baby and the mother’s age to work out a risk of Down’s Syndrome for the baby.

The NHS Antenatal and Newborn Screening Programmes booklet highlights that about a quarter of babies with Down’s syndrome are not detected by screening tests.

Pathway 2

Diagnostic Pathway

Pathway3

Pre-School Patient Care Pathway

Guidance on the use of Pre-School Down’s Syndrome Diagnostic and Patient Care Pathway

Antenatal Screening and Testing

In Scotland all pregnant women are eligible for antenatal screening. Screening tests are not compulsory. They are offered to assist individuals make an informed choice about the health of their unborn baby. The emphasis should be on offering screening and diagnostic tests to women in order to detect where possible any fetal abnormities at an early stage. (NHS Quality Improvement Scotland 2005)

Down’s Syndrome

Down’s Syndrome (Trisomy 21) is a genetic condition caused by an extra chromosome 21 appearing in each of the body’s cells i.e. there are three copies of chromosome 21 instead of two. It is the most common identifiable cause of learning disability; with a current incidence in UK of 0.9/1000 live births.

Children with Down’s Syndrome have some degree of learning disability, and a characteristic range of physical features. A wide range of health problems are associated with the syndrome so children should have a variety of extra screening tests and health checks to ensure problems are identified and treated as quickly as possible. There is a Grampian protocol for screening as recommended by Down’s Syndrome Medical Interest Group (DSMIG) national guidelines. (see Annex 1)

Types of Down’s Syndrome

  • Trisomy 21 (Non-disjunction): this is the most common form (in 94%) All cells in the body contain an extra chromosome 21 because the parent’s sperm or egg contained two of chromosome 21 instead of one, giving the child an extra chromosome 21 in each cell.
  • Translocation: (in 4%) the extra chromosome 21 is translocated or attached to another chromosome. They have 46 chromosomes with one chromosome being larger than usual due to the extra 21 chromosome being attached.
  • Mosaic: (in 2%) only some cells carry an extra chromosome 21, while others have two as normal.

Physical features associated with Down’s Syndrome

  • Low muscle tone(hypotonia) causing the baby to be floppy
  • Face – round with flatter profile
  • Head – back of head slightly flattened (brachycephaly)
  • Eyes – slight upwards slant, fold of skin running vertically from corner of eye to bridge of nose (epicanthic fold), white or yellow spots around iris (Brushfield spots)
  • Neck – short and stocky, newborn babies may have excess skin over the back of their neck.
  • Mouth – smaller mouth cavity, making the tongue look larger
  • Hands – broad with short fingers, little finger may only have one joint and curve in towards the other fingers, may only have one single crease running across palm.
  • Feet – broad and short , toes widely spaced between 1st and 2nd toe (sandal gap)
  • Below average weight and length

Many of these features appear in the general population and not all babies with Down’s Syndrome show all characteristics. Individuals are all different, and have some of their family’s physical features, just like any child.

It is important to remember that children with Down’s Syndrome will more closely resemble their parents and siblings in appearance, than other children with Down’s Syndrome.

(adapted from Down’s Syndrome Scotland Booklet – “Ages and Stages of Down’s Syndrome”)

Birth of Baby

During the initial examination by the midwife it may be suspected that the baby has Down’s syndrome (if not previously detected during antenatal screening). The midwife may have identified some physical features in the baby that may be associated with Down’s Syndrome.

At this stage it is important that the parents are informed of the possible diagnosis of Down’s Syndrome by an appropriate professional.

A senior paediatrician should be contacted as soon as possible to:

  • Confirm the diagnosis
  • Give initial information to parents
  • Medically assess the baby

Although a confident diagnosis can often be made clinically, a definitive diagnosis must be confirmed by obtaining a blood sample from the baby for karyotyping (chromosome analysis) with the parents consent.

The baby should be referred to a paediatrician with special interest in Downs Syndrome, or an experienced paediatrician, and initial screening tests should be arranged as soon as clinicians are confident of the diagnosis, often before results of karyotype are known.

The paediatrician should meet both parents as soon after referral as possible, to offer up-to-date, factual, verbal and written information about:

  • genetics and aetiology of Downs Syndrome,
  • immediate and future health concerns,
  • the normal developmental pattern expected
  • local resources
  • prognosis.

It is important to ensure that all newborn screening tests have been carried out (see page 11) and follow-up appointments made before discharge from hospital.

The importance of the time of disclosure and way this is managed cannot be over-stressed. Down’s Syndrome Scotland has published a booklet titled “Recommendations for telling parents that their child has Down’s Syndrome” which some professionals may find helpful. They also offer a 24hr helpline for advice and information that professionals can access prior to informing parents, Tel: 0131 313 4225.

Parents do not need to have their chromosomes checked or specialist counselling by a geneticist if their baby has non-dysjunctional Trisomy 21 as this is not associated with chromosomal abnormalities in parents. The chance of having a second baby with Downs’ Syndrome is 1 in 100 in all mothers under 40 (higher in mothers over 40) and all parents will be offered genetic counselling and antenatal CVS/amniocentesis testing in their next pregnancy.

Information for Parents

Parents of children diagnosed with Down’s Syndrome require clear verbal and written information about the condition and associated health issues.

All parents of children diagnosed with Down’s Syndrome will be supplied with a New Parent Information Packpublished by Down’s Syndrome Scotland (DSS) as soon as possible after diagnosis.

They will also receive details of New Parent Contacts, these are local parents ofa child with Down’s Syndrome who have been trained by DSS to provide voluntary help and support to new parents

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Personal Child Health Records (PCHR)

The paediatrician visiting the family in hospital, or a member of their team, should contact the family Health Visitor, if possible before the baby is discharged, to offer on-going support to Primary Health Care team and to send them a copy of the Down’s Syndrome insert for the baby’s PCHR.

This 20 page insert was developed by Downs Syndrome Medical Interest Group (second edition, 2000) and contains additional information for parents and professionals which will helpthem maintain the health and well being of babies born with Down's syndrome including:

  • General information
  • Expected developmental progress
  • Possible health problems
  • Suggested schedule of health checks
  • Advice about immunisation, feeding and growth
  • Down's specific growth charts
  • Sources of additional help and advice

Health Visitors should give parents their PCHR with relevant insert already included.

Personal Child Health Records were introduced to facilitate partnership with parents and to empower them in overseeing their child’s development and health care. It is important that health professionals use this record to allow parent’s to have available written information about their child’s health and development. Information on diagnosis and how to access appropriate information and support can also be recorded in the Personal Child Health Records.

Providing further information on local support groups and other national and local resources available will help empower parents in the care of their child.

further sources of information include:-

Down’s Syndrome Scotland

Children’s Centre

CityHospital Campus

Hucknall Road

Nottingham

NG5 1PB

Website:

Down’s Syndrome Medical Interest Group

158/160 Balgreen Road

Edinburgh

EH11 3AU

Tel: 0131 313 4225

Website:

Down’s Syndrome AssociationDown’s Heart Group

Langdon Down CentrePO Box 4260

2a LangdonParkDunstable

TeddingtonBeds

TW11 9PSLU6 2ZT

Tel: 0845 230 0372Tel: 0845 166 0861

Website

The Family FundContact a Family Scotland

Unit 4 Alpha CourtCraigmillar Enterprise& Arts Centre

Monks Cross Drive11/9 Harewood Road

HuntingtonEdinburgh

YorkEH16 4NT

YO32 9WNTel: 0131 659 2930

Tel: 0845 130 4542Website:

Website:

Gordon Rural ActionVSA Carers Centre

55 Gordon Street24-28 Belmont Street

HuntlyAberdeen

AB54 8EQAB10 1JH

Tel: 01466 793676Tel: 01224 646677 Website:

15a High Street

Inverurie

AB51 3QA

Tel: 01467 629072

Neonatal Medical Assessment by Paediatrician

It is essential that every newborn baby with Downs’ Syndrome has a comprehensive physical and neurological medical examination by an experienced paediatrician.

Many malformations will declare themselves early but for some screening will have to be carried out, therefore all babies in addition to routine newborn screening should have:

  • Echocardiogram (in newborn period, by trained professional) to detect congenital cardiac disease. Cardiac status should be established by the time the baby is 6 weeks old.
  • Eyes checked for congenital cataracts (by ophthalmologist in Grampian)
  • Neonatal hearing screening
  • weight, length and head circumference plotted
  • Neonatal screen for hypothyroidism (Guthrie Test)

Further tests may be arranged as appropriate with a high index of suspicion regarding associated abnormalities.

For further information and detailed guidance regarding basic medical surveillance of cardiac disease, thyroid disorder, hearing impairmentand ophthalmic problems check:

Primary Health Care Team

The child’s General Practitioner and Health Visitor will be notified prior to the child’s discharge from hospital and a copy of the Down’s Syndrome specific insert pages for the Personal Child Health Record (PCHR) will be sent out.

Universal Child Health Screening

The universal core programme for child health screening and surveillance is carried out by the Primary Health Care teamliaising with Child Development Service, Specialist Services, Allied Health Professionals, Social Work, Educational Psychology and nursery as required.

The early identification of a child requiring an assessment for health problems and developmental disorders is the aim of the child health screening and surveillance programmes.

Health for all Children (Hall 4) has led to a significant change in screening and surveillance in Scotland.

Hall 4 states: -

Every child and parent should have access to a universal or core programme of preventative pre-school care.

Formal screening should be confined to the evidence based programmes agreed by the National Screening Committee.

Health professionals must respond promptly to parental concerns.

Scottish Executive 2005

Social Work Department

An assessment of need may be carried out to determine what support and services are required by the child and their family. This may include respite care, play schemes for child or siblings and details of available financial assistance.

Management by Specialist Services

The child will be referred to the appropriate specialist service to assess, review and treat any specific medical problems they may have.

  • All babies are reviewed in Cardiac clinic aged 3 months
  • All children are reassessed by Audiology before their first birthday, and then annually throughout preschool.
  • All children will have a full eye/vision assessment, including refraction (to check if they need glasses) before they start nursery.

Refer to Child Development Service

The Child Development Service is available at local clinics throughout Grampian and can be accessed by referral to:-

Community Child Health Department

Royal Aberdeen Children’s Hospital

Westburn Road

Aberdeen

AB25 2ZG

Dr Pat Charleton, orDr A Liebenberg

Raeden CentreWard 2

Midstocket RoadDr Gray’s Hospital

AberdeenPluscarden Road

AB15 5PDElgin

IV30 1SN

Children should be offered regular developmental review through Child Development Services to assess and manage health and development needs. Liaison with Health Visitor, Allied Health Professionals, Social Work, Educational Psychology and nursery school may be required to ensure the child’s care and social needs are being met.

A Grampian Schedule of Health Checks, based on the United Kingdom Downs’ SyndromeMedical Information Group (DSMIG) Guidelines, have been drawn up to assist medical professionals with examination andscreening tests to detect problems more likely to occur in children with Down’s Syndrome. (See Annex 1)

DSMIG at is a useful resource, with in formation about: