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 ............................................................................................................ 1
Antenatal Screening ................................................................................ 1
Guidance on use of Antenatal Screening Pathway ............................... 2
Blood Test ....................................................................................... 2
Diagnostic Test ................................................................................ 2
Combined Ultrasound and Biochemical (CUB) Screening............... 3
Pathway 2 ............................................................................................................ 4
Diagnostic Pathway ................................................................................. 4
Pathway 3 ............................................................................................................ 5
Pre-School Patient Care Pathway ........................................................... 5
Guidance on the use of Pre-School Down’s Syndrome Diagnostic
and Patient Care Pathway ....................................................................... 6
Antenatal Screening and Testing .................................................... 6
Down’s Syndrome ........................................................................... 6
Types of Down’s Syndrome ............................................................. 6
Physical features associated with Down’s Syndrome ...................... 6
Birth of Baby .................................................................................... 8
Information for Parents .................................................................... 9
Neonatal Medical Assessment by Paediatrician ............................ 11
Primary Health Care Team ............................................................ 11
Universal Child Health Screening .................................................. 11
Social Work Department ................................................................ 12
Management by Specialist Services .............................................. 12
Refer to Child Development Service.............................................. 13
Developmental Assessment .......................................................... 14
Education ...................................................................................... 15
Joint Assessment of Needs / Integrated Assessment.................... 15
Individual Educational Plan/ Co-ordinated Support Plan ............... 16
Key worker .................................................................................... 16
Regular Review ............................................................................. 16
Pathway 4 .......................................................................................................... 17
School Aged Patient Care Pathway ...................................................... 17
Guidance on the use of School Age Down’s Syndrome Patient
Care Pathway.......................................................................................... 18
Health ............................................................................................ 18
Universal Child Health Screening .................................................. 19
November 2008
Combined Child Health Service
Social Work ................................................................................... 19
Education ...................................................................................... 19
Joint Assessment of Needs / Integrated Assessment.................... 20
Individual Educational Plan / Co-ordinated Support Plan .............. 20
Key worker .................................................................................... 21
Review........................................................................................... 21
Transfer to Adult Services ............................................................. 21
Annex1 .................................................................................................... 22
Down’s Syndrome – Grampian Schedule of Health Checks .......... 22
Annex 2 ................................................................................................... 23
Down’s Syndrome – Child Development (DSMIG 2000) ............... 23
References:............................................................................................. 24
Working Group Members ...................................................................... 25
November 2008
Combined Child Health Service
Pathway 1
Antenatal Screening
Previous baby with
Down’s Syndrome
Offer Antenatal Screening for Down’s Syndrome
Serum blood test offered at 16 weeks gestation
Woman offered CUB
screening or
diagnostic procedure
Chronic Villus Sampling (CVS)
at 11-14 weeks gestation or
Amniocentesis at 15-16 weeks
Low Risk :> 1:250
High Risk :< 1:250
Woman informed by midwife at
next antenatal appointment
Woman informed by letter
Amniocentesis
diagnostic procedure
offered
Amniocentesis
Procedure Carried Out
Down’s Syndrome
Karyotype
Woman Declines Screening
and/or
Diagnostic Tests
Normal Karyotype
Negative Result
Woman Continues Pregnancy
Positive Diagnosis
Routine Antenatal Surveillance Carried Out
Support of Neonatologist if requested
Woman chooses
termination of pregnancy
Post-natal Examination
November 2008
Birth of Baby
1
Combined Child Health Service
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.
November 2008
2
Combined Child Health Service
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.
November 2008
3
Combined Child Health Service
Pathway 2
Diagnostic Pathway
Not Down’s
Syndrome
Birth of Baby
Down’s Syndrome
confirmed by Antenatal
testing and screening
Down’s Syndrome Suspected
Normal
Karyotype
Negative Result
Karyotyping carried out with
parent’s consent
Positive Result
Definitive Diagnosis of Down’s Syndrome
Information for Parents
Verbal
Relevant websites
Down’s Syndrome, New Parent
Information Packs
regarding
Diagnosis, Support and Health Issues
November 2008
4
Combined Child Health Service
Pathway 3
Pre-School Patient Care Pathway
Information
for Parents
Definitive Diagnosis of Down’s Syndrome
Verbal
Relevant
websites
Down’s
Syndrome New
Parent
Information
Pack
regarding
Diagnosis,
Support and
Health Issues
Refer to Experienced Paediatrician/Paediatrician
with Special Interest in Down’s Syndrome
Counselling, including genetics / aetiology
Initial health surveillance carried out as per protocol
Primary
Health Care
Team
Social Work
Department
(as required)
Identify Social
Care and Support
needs for family.
General
Practitioner
Health Visitor
Screening and
Management by
Specialist
Services
Cardiology,
Ophthalmology,
Audiology
Other Specialist
Services as required
Education
Identify any Additional
Support for Learning
Needs.
Mainstream
Nursery School
Developmental
Nursery School
Joint Assessment of Need
Child Development
Services
Medical Management
physical examination, growth
measurement, scheduled
health checks and
developmental assessment.
Early Intervention and
Management by:
Physiotherapy, early motor
skills (from 2 months old)
Speech and Language
Therapy, early
feeding/communication
(from 5 months old)
Educational Assessment
(refer 2-2½ years old)
Occupational Therapy,
Clinical Psychology (if
indicated)
Integrated Assessment Framework
Action Plan
Key Worker Appointed
(Not yet implemented)
+/- Individual Educational Plan/
Co-ordinated Support Plan
Regular review and reassessment of
needs by various professionals involved
November 2008
Schedule of Health
Checks
Refer to Grampian schedule of
health checks. (Annex 1 of
guidelines)
“Guidelines for medical
Surveillance”
(www.dsmig.org.uk)
5
Combined Child Health Service
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
November 2008
6
Combined Child Health Service



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 1 st 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”)
November 2008
7
Combined Child Health Service
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 overstressed. 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.
November 2008
8
Combined Child Health Service
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 Pack published 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 of a
child with Down’s Syndrome who have been trained by DSS to provide voluntary
help and support to new parents
.
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 help them 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.
November 2008
9
Combined Child Health Service
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
City Hospital Campus
Hucknall Road
Nottingham
NG5 1PB
Website: www.dsmig.org.uk
Down’s Syndrome Medical Interest Group
158/160 Balgreen Road
Edinburgh
EH11 3AU
Tel: 0131 313 4225
Website: www.dsscotland.org.uk
Down’s Syndrome Association
Langdon Down Centre
2a Langdon Park
Teddington
TW11 9PS
Tel: 0845 230 0372
Website www.downs-syndrome.org.uk
Down’s Heart Group
PO Box 4260
Dunstable
Beds
LU6 2ZT
Tel: 0845 166 0861
Website: www.dhg.org.uk
The Family Fund
Unit 4 Alpha Court
Monks Cross Drive
Huntington
York
YO32 9WN
Tel: 0845 130 4542
Website: www.familyfund.org.
Contact a Family Scotland
Craigmillar Enterprise & Arts Centre
11/9 Harewood Road
Edinburgh
EH16 4NT
Tel: 0131 659 2930
Website: www.cafamily.org.uk
Gordon Rural Action
55 Gordon Street
Huntly
AB54 8EQ
Tel: 01466 793676
VSA Carers Centre
24-28 Belmont Street
Aberdeen
AB10 1JH
Tel: 01224 646677
Website: www.vsa.org.uk
15a High Street
Inverurie
AB51 3QA
Tel: 01467 629072
November 2008
10
Combined Child Health Service
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 impairment and ophthalmic
problems check: www.dsmig.org.uk
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 team liaising 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
November 2008
11
Combined Child Health Service
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.
November 2008
12
Combined Child Health Service
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,
Raeden Centre
Midstocket Road
Aberdeen
AB15 5PD
or
Dr A Liebenberg
Ward 2
Dr Gray’s Hospital
Pluscarden Road
Elgin
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’
Syndrome Medical Information Group (DSMIG) Guidelines, have been drawn up to
assist medical professionals with examination and screening tests to detect
problems more likely to occur in children with Down’s Syndrome. (See Annex 1)
DSMIG at www.dsmig.org.uk is a useful resource, with in formation about:
 “Guidelines” for further information and detailed guidance regarding basic
medical surveillance of cardiac disease, thyroid disorder, hearing
impairment and ophthalmic problems, cervical spine instability and
monitoring of growth.
 “key points” and “clinical awareness notes” for additional information on a
variety of additional medical conditions.
Early identification, early therapeutic and educational intervention, and seamless
delivery of services may help a child to maximise their potential.
November 2008
13
Combined Child Health Service
Developmental Assessment
Children with Down’s Syndrome progress at a slower rate in their development.
A table giving an outline of the approximate age range of when children with Down’s
Syndrome reach/achieve some milestones has been adapted by the DSMIG. (See
Annex 2)
Development assessments can involve a multidisciplinary and multiagency
approach. This involves: Medical assessment; physical and neurological examination.
 Co-ordination with specialist services
 Thyroid function- checked annually by TSH finger-prick test after the age of 1
year. (Consent required for thyroid screen database.)
Agreed timetable for multidisciplinary early intervention in Grampian:
 Early referral to Physiotherapist aged 2-3 months or as soon as the infant is
medically fit, for advice and management of early motor development.
Input from the Physiotherapist is reduced when the child starts to walk but
ongoing orthotic support may continue.
 Referral to Speech and Language Therapy (SALT) around 6 months of age
for advice on feeding/weaning and on encouraging early communication.
 Occupational therapy assessment may be considered (usually just
preschool or in early primary years, unless additional concerns.)
 Multidisciplinary Developmental Assessment may be arranged if there is
concern about developmental progress or the child/ family would benefit from
additional specialist nursery support.
 Educational assessment to assess the child for any additional support
needs and in partnership with the parents and health professionals to decide
on preschool placement(s) - a combination of mainstream nursery, local
playgroup, developmental nursery. (Should be referred to educational
psychology between age 2 and 2½ years)
 Clinical psychology referral may be arranged for help and assessment of
behavioural difficulties
 Social Work assessment
November 2008
14
Combined Child Health Service
Education
The Health Service may identify a child as appearing to have additional support
needs arising from a disability and bring this child to the attention of the education
authority.The educational authority will decide whether to assess the child to find out
if they have additional support needs and will determine what support is required.
The educational authority in partnership with the parents will decide if the child
attends a mainstream nursery school, developmental nursery or combination.
All 3 and 4 year olds in Scotland are entitled to a funded part time pre-school
education placement.
The Education (Additional Support for Learning) (Scotland) Act 2004 (ASL Act)
introduced a new framework for providing support to children and young people who
require additional help with their learning.
The education authority may then, at its discretion, establish whether the child has
additional support needs arising from a disability under its arrangements for
identifying and providing for children with additional support needs. Once it is
established by the educational authority the child has additional support needs, the
authority would then have a duty to provide suitable provision to meet those needs.
The Additional Support for Learning Act requires an educational authority to provide
additional support to certain disabled pre-school children in their area who are under
3 years old.
The ASL Act aims to ensure that all children and young people are provided with the
necessary support to help them work towards achieving their full potential. The ASL
Act also promotes collaborative working among all agencies involved with supporting
children.
Joint Assessment of Needs / Integrated Assessment
Joint assessment of needs is a co-ordinated Multi-Agency approach to gathering
information and aims to avoid parents having to repeat information more than once,
giving a holistic view of the child within their family and community enabling
assessment of medical, social and educational needs.
Action plans are developed using the systematic assessment and analysis of the
information obtained about the child. The child and their family may participate in the
development of the action plan.
An action plan records the needs and the professional responses and responsibilities
to the child, outlining the basis for providing support, services and resources to meet
the needs of the child.
An action plan should state:
 what action should be taken
 by whom to improve the child’s circumstances
 the reasons for the plan
 timescales
 intended outcome and future review date
The plan should be as simple as necessary and relevant to the child's needs. It
should be updated or amended as needs change.
November 2008
15
Combined Child Health Service
Individual Educational Plan/ Co-ordinated Support Plan
An Individual Educational Plan (IEP) describes in detail the nature of the child’s
additional support needs, the ways in which these are to be met, the learning
outcomes to be achieved, and specifies what additional support is required, including
that required from agencies outwith education. The IEP should be reviewed and
updated regularly, involving the parents and child (where possible).
A Co-ordinated support plan is prepared for children who:
 need support due to complex or multiple factors that have a significant
adverse affect on their education
 require significant involvement from one or more additional agencies such as
health and social work.
 will need support for more than a year
The aim of a co-ordinated support plan is to ensure that the various professionals
and agencies involved in providing support are working together and that the support
is co-ordinated.
A Co-ordinated support plan:
 is an action plan for children who require significant additional support with
their education
 supports partnership working to help children achieve educational targets
 is monitored and reviewed regularly
 involves the child, their family, education and additional agencies
(Enquire 2007)
Key worker
A key worker is a named person who works in partnership with the family and can
provide a link between professionals and agencies involved in the child’s care. Key
workers can co-ordinate access to, and delivery of services required from various
agencies.
Regular Review
The child will have regular reviews carried out by the various professionals and
agencies involved in their care. Their needs will be reassessed and plans updated as
required.
November 2008
16
Combined Child Health Service
Pathway 4
School Aged Patient Care Pathway
Jackie Robertson
Social Work
Identify any
care and
ElmaSocial
Stephen
Support Needs for the
child/young
person
Donald
Toddand the
family
Parent Health
Representative
Developmental review and
Consultant
Paediatrician
scheduled
health
checks
through Child Development
Clinical Nurse Manager
Services.
Regular review by Specialist
Services involved in care
Liaise with General
Practitioner, Specialist
Health Visitors, Learning
Disabilities Team, Social
Work, School, Allied Health
Professional Services
Education
Identify any
Additional Support
for Learning
Needs
Mainstream
School
Specialist Unit
Special School
Joint Assessment of Need
Integrated Assessment Framework
Action Plan
Key worker Appointed
(Not yet implemented)
+/- Individual Education Plan/
Co-ordinated Support Plan
Regular review and reassessment of
needs by various professionals
involved
Transfer to Community Care
Management Team for continued
review and reassessment of needs
November 2008
17
Combined Child Health Service
Guidance on the use of School Age Down’s Syndrome Patient Care
Pathway
Health
Annual developmental reviews are offered through Child Development Services to
assess and manage developmental and medical health problems. More frequent
reviews may be offered depending on the individual child/young person’s needs.
Liaison with Specialist Services, General Practitioner, Specialist Health Visitor, Allied
Health Professionals, Social work, Educational Psychology and School may be
required to ensure the child/young person’s care and social needs are being met.
Recommended Schedule of Health Checks:
 Thyroid blood test: Annual TSH fingerprick test co-ordinated by Support
Needs System computer database (parental consent required). Grampian
protocol followed for positive tests.
 Growth monitoring: Annual height and weight. Plot on Down’s Syndrome
growth chart. If concerns about obesity calculate BMI and plot on standard
chart.
 Eye examination: Review 2 yearly by High street Optometrist or hospital Eye
clinic.
 Hearing check: Review 2 yearly by Audiology department.
 Advise regarding cervical spine instability.
(British Gymnastics information pack on the participation in gymnastics and
trampolining by people with Down’s Syndrome contains the consent and
medical screening form which should be completed prior to the child/young
person participating in these activities.
Available from: http://www.dsmig.org.uk/whatsnew/index.html
 Dental check: every 6 months.
www.dsmig.org.uk is a useful resource including “Guidelines” for further information and detailed guidance regarding basic
medical surveillance of cardiac disease, thyroid disorder, hearing impairment
and ophthalmic problems, cervical spine instability and monitoring of growth.
 “key points” and “clinical awareness notes” for additional information on a
variety of additional medical conditions.
November 2008
18
Combined Child Health Service
Universal Child Health Screening
Health for all Children (Hall 4) has led to a significant change in screening and
surveillance in Scotland.
All children receive a health check when starting primary school, with little formal
child health surveillance after that. In school age children detection of problems
should be part of mainstream school life.
Hall 4 states: Formal screening should be confined to the evidence based programmes agreed by
the National Screening Committee.
Health professionals must respond promptly to parental concerns.
Children starting school should receive the agreed screening programmes.
Health care of school-age children should include support for children with problems
and special needs.
Scottish Executive 2005
Social Work
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 family support services,
mainstream or specialist childcare, respite care, leisure and recreational facilities and
details of available financial assistance.
Education
The Health Service may identify a child as appearing to have additional support
needs arising from a disability and bring this child to the attention of the education
authority.The educational authority will decide whether to assess the child to find out
if they have additional support needs and will determine what support is required.
The educational authority in partnership with the parents will decide if the child
attends a mainstream school, a specialist unit attached to a mainstream school a
special school.or a combination.
The Education (Additional Support for Learning) (Scotland) Act 2004 (ASL Act)
introduced a new framework, based on the idea of additional support needs, to
provide for children and young people who require additional help with their learning.
The education authority may then, at its discretion, establish whether the child has
additional support needs arising from a disability under its arrangements for
identifying and providing for children with additional support needs. Once it is
established by the educational authority the child has additional support needs, the
authority would then have a duty to provide suitable provision to meet those needs.
The ASL Act aims to ensure that all children and young people are provided with the
necessary support to help them work towards achieving their full potential.
The ASL Act also promotes collaborative working among all agencies involved with
supporting children.
November 2008
19
Combined Child Health Service
Joint Assessment of Needs / Integrated Assessment
Joint assessment of needs is a co-ordinated Multi-Agency approach to gathering
information and aims to avoid parents having to repeat information more than once,
giving a holistic view of the child within their family and community enabling
assessment of medical, social and educational needs.
Action plans are developed using the systematic assessment and analysis of the
information obtained about the child. The child and their family may participate in the
development of the action plan.
An action plan records the needs and the professional responses and responsibilities
to the child, outlining the basis for providing support, services and resources to meet
the needs of the child.
An action plan should state:
 what action should be taken
 by whom to improve the child’s circumstances
 the reasons for the plan
 timescales
 intended outcome and future review date
The plan should be as simple as necessary and relevant to the child's needs. It
should be updated or amended as needs change.
Individual Educational Plan / Co-ordinated Support Plan
An Individual Educational Plan (IEP) describes in detail the nature of the child’s
additional support needs, the ways in which these are to be met, the learning
outcomes to be achieved, and specifies what additional support is required, including
that required from agencies outwith education The IEP should be reviewed and
updated regularly, involving the parents and child (where possible).
A Co-ordinated support plan is prepared for children who:
 need support due to complex or multiple factors that have a significant
adverse affect on their education
 require significant involvement from one or more additional agencies such as
health and social work
 will need support for more than a year
The aim of a co-ordinated support plan (CSP) is to ensure that the various
professionals and agencies involved in providing support are working together and
that the support is co-ordinated
A Co-ordinated support plan:
 is an action plan for children who require significant additional support with
their education
 supports partnership working to help children achieve educational targets
 is monitored and reviewed regularly
 involves the child, their family, education and additional agencies
(Enquire, 2007)
November 2008
20
Combined Child Health Service
Key worker
A key worker is a named person who works in partnership with the family and can
provide a link between professionals and agencies involved in the child’s care. Key
workers can co-ordinate access to, and delivery of services required from various
agencies.
Review
The child will have regular reviews carried out by the various professionals and
agencies involved in their care. Their needs will be reassessed and plans updated as
required.
Transfer to Adult Services
Transfer from Paediatric Services to Community Care Management Team will take
place when the young person leaves school. Ongoing medical surveillance and
health checks are recommended throughout adult life. (see: www.dsmig.org.uk)
Currently in Grampian adults are registered with The Grampian Thyroid Register on
leaving school. They will be offered annual Thyroid screening through their General
Practioner.
November 2008
21
Combined Child Health Service
Annex1
Down’s Syndrome – Grampian Schedule of Health Checks
(Adapted from DSMIG Schedule of Health Checks 2000)
The following are suggested ages for health checks. Checks at any other time if there are parental or other concerns
Age
Birth to 6 weeks
Thyroid blood
Test
Routine Guthrie test
Growth
Monitoring
Eye Check
Hearing Check
Heart check
and other
advice
November 2008
6 – 12 months
12months –
2½ years
3 - 3½ years
4 - 4½ years
Annual TSH fingerprick test. follow protocol for positive
test.
Length and weight should be checked Length and weight should be checked at least annually
frequently and plotted on Down’s Syndrome and plotted on Down’s Syndrome growth charts.
growth charts.
Head circumference should be checked at Body Mass Index (BMI) checked and recorded.
each routine medical check.
Visual Behaviour.
Orthoptic
Visual acuity,
Check for congenital
examination,
refraction and
cataract by
refraction and
ophthalmic
Ophthalmologist
ophthalmic
examination. (if
examination
necessary)
Full audiological
Neonatal screening
review (hearing,
Full audiological review
impedance,otoscopy)
(hearing , impedance, otoscopy) annually
by the age of 1 year
Echocardiogram at
birth or diagnosis.
Dental Advice. Check up every 6 months
review in cardiac
clinic three months
later
22
Combined Child Health Service
Annex 2
Down’s Syndrome – Child Development (DSMIG 2000)
Age range
Area of development
Gross motor skills
(moving around)
Fine motor skills and eye
hand coordination
Communication skills
Personal and social skills
November 2008
Milestone
Down's
syndrome
Other children
Holds head
steady in sitting
position
3-9m
1-4m
Sits alone
6-16m
5-9m
Stands alone
12-38m
9-16m
Walks alone
13-48m
9-17m
Follows object
with eyes
1.5-8m
1-3m
Reaches out and
grasps object
4-11m
2-6m
Passes objects
from hand to
hand
6-12m
4-8m
Builds a tower of
two 1" cubes
14-32m
10-19m
Copies a circle
36-60m
24-40m
Babbles "Dada",
"Mama"
7-18m
5-14m
Responds to
familiar words
10-18m
5-14m
First words
spoken with
meaning
13-36m
10-23m
Shows needs by
gesture
14-30m
11-19m
Two word
phrases
18-60m
15-32m
Smiles when
talked to
1.5-4m
1-2m
Feeds self with
biscuit
6-14m
4-10m
Drinks from cup
12-23m
9-17m
Dry by day
18-50m
14-36m
Bowel control
20-60m
16-48m
23
Combined Child Health Service
References:
antenatalcare.com, The Early Screening Test for Down’s Syndrome
British Gymnastics, (2006) Alto Axial Information Pack,
http://www.dsmig.org.uk/whatsnew/index.html (accessed 2007)
Down’s Syndrome Medical Interest Group (2000), Child Development Chart,
www.dsmig.org.uk (accessed 2007)
Down’s Syndrome Medical Interest Group (2000), Schedule of Health Check,
www.dsmig.org.uk (accessed 2007)
Down’s Syndrome Scotland, Ages and Stages of Down’s Syndrome,
www.dsscotland.org.uk (accessed 2007)
Down’s Syndrome Scotland, Recommendations for telling parents that their
child has down’s Syndrome, www.dsscotland.org.uk (accessed 2007)
Enquire, Planning children’s and young peoples learning,
www.enquire.co.uk (accessed 2007)
NHS Quality Improvement Scotland (2005), Pregnancy and Newborn
Screening – Clinical Standards
Scottish Executive, Education (Additional Support for Learning) (Scotland) Act
2004
Scottish Executive, (2005) Health for all Children
Scottish Executive, (2005) Supporting Children’s Learning, Code of Practice
November 2008
24
Combined Child Health Service
Working Group Members
Jackie Crum (chair)
Consultant Paediatrician
Pat Charleton
Associate Specialist Paediatrician
Ena Cromar
Project Co- Ordinator,Children with Disabilities
Suleman Daud
Consultant Paediatrician
Ann Edgar
Community Nurse Health Visitor.
Learning Disabilities Team Aberdeen
Louise Holliday
Clinical Educator
Imogen Kerr
Educational Psychologist (in training)
Andre Liebenberg
Consultant Paediatrician
Sandra Munro
Specialist Health Visitor Aberdeen
Mathew Musset
Educational Psychologist Aberdeen
Grace Porter
Clinical Midwifery Manager
Aberdeen Maternity Hospital
Anne Reid
Associate Specialist
Aberdeen Maternity Hospital
Brenda Rennie
Down’s Syndrome Association
New Parent Contact
Jackie Robertson
Parent Representative
Norman Smith
Consultant Obstetrician
Aberdeen Maternity Hospital
Elma Stephen
Consultant Paediatrician
Donald Todd
Clinical Nurse Manager
November 2008
25