Document Details Title Guideline for the management of ... · Document Details Title Guideline for the management of Noonan Syndrome Trust Ref No 1937-61498 Local Ref (optional) Main
Post on 30-Oct-2020
2 Views
Preview:
Transcript
Document Details
Title Guideline for the management of Noonan Syndrome
Trust Ref No 1937-61498
Local Ref (optional)
Main points the document covers
The identification and evidence based management of children with Noonan’s syndrome.
Who is the document aimed at?
Community Paediatric Doctors
Author Dr Shashwat Saran Consultant Paediatrician Dr Angela Hulme Consultant Paediatrician. Reviewed (Jan 2020) – Dr Ayaz Vantra (GRID Trainee – Community Paediatrics) and Dr Gregory Minnaar (Consultant Paediatrician)
Approval process
Approved by (Committee/Director)
Clinical Policies Group
Approval Date 21st September 2020
Initial Equality Impact Screening
Yes
Full Equality Impact Assessment
Lead Director Steve Gregory
Category Clinical
Sub Category
Review date 21st September 2023
Distribution
Who the policy will be distributed to
Paediatric health care professionals.
Method Electronically via managers/Datix, available to all staff by the Trust website and Key clinicians
Document Links
Required by CQC No
Required by NHSLA
Keywords “Noonan’s Syndrome”, “surveillance”, “genetic”
Amendments History
No Date Version 1
1 13/10/14 New policy
2 21/9/2020 Reviewed and formatting updated
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 1 Sept 2020
Contents
1 Introduction ................................................................................................................... 2
2 Purpose ........................................................................................................................ 2
3 Definitions / Glossary .................................................................................................... 3
4 Duties ............................................................................................................................ 3
4.1 Chief Executive ..................................................................................................... 3
4.2 Director of Nursing & Medical Director .................................................................. 3
4.3 Service Managers………………………………………………………………………..3
4.4 All Clinical Staff…………………………………………………………………………..3
5 Management of Noonan Syndrome -Routine baseline investigations / referrals ............... 4
6. Health Surveillance ………………………………………………………………………………4
Neurological issues .................................................................................................. 4
Behavioural/Psychological issues………………………………………………...... 5
Ophthalmic issues………………………………………………………………………. 5
Hearing…………………………………………………………………………………… 5
Cardiac issues……………………………………………………………………….. 5
Gastrointestinal issues…………………………………………………………………. 5
Growth issues………………………………………………………………………... 5
Renal issues… ………………………………………………………………………… 6
Genital/Reproductive………………………………………………………………… 6
Endocrine issues…………………………………………………………………… 6
Musculoskeletal system………………..……………………………….…………….. 6
Coagulation defects……………………………………………………………………. 7
Skin issues…………………………………………………………………………. 7
Lymphoedema…………………………………………………………………………. 7
6 Consultation .................................................................................................................. 7
7 Dissemination and Implementation ............................................................................... 7
8 Monitoring Compliance.................................................................................................. 8
9 References .................................................................................................................... 8
10 Associated Documents.................................................................................................. 8
11 Appendix - Noonan Syndrome Growth Charts 8
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 2 Sept 2020
1. Introduction
Noonan syndrome (NS) is a common genetic condition. The incidence is estimated as 1 in
1,000 to 1 in 2,500 births. The severity of NS is the same in males and females. The main
features are congenital heart defects, short stature and characteristic facial features. Early
motor delay associated with hypotonia is not necessarily associated with later learning
difficulty, and most adults with NS are able to lead independent autonomous lives.
Jacqueline Noonan a paediatric cardiologist at the University of Iowa, described 9 children
who in addition to congenital heart disease had characteristic faces, chest deformities and
short stature. Term Noonan’s syndrome was introduced in1971.
In order to diagnose a child with Noonan syndrome we need the following criteria to be met
(van der Burgt 1997):
Feature
A = Major B = Minor
1. Facial * Typical face* Suggestive face
2. Cardiac Pulmonary valve stenosis and/or hypertrophic cardiomyopathy
Other cardiac defect
3. Height < 3th centile < 10th centile
4. Chest wall Pectus carinatum/excavatum Broad thorax
5. Family History First degree relative with definite NS
First degree relative suggestive of NS
6. Other Mild developmental delay, cryptorchidism AND lymphatic Dysplasia
Mild developmental delay, cryptorchidism, OR lymphatic dysplasia
*Facial features: Hypertelorism, down slanting palpebral fissures, high arched eyebrows,
epicanthic folds, depressed nose with widened base, dental malocclusion, high arched
palate, broad neck.
Differential diagnoses:
1. Cardio-facio-cutaneous syndrome (CFC)
2. Costello syndrome
3. LEOPARD syndrome
4. King-Denborough Syndrome (phenotypically distinct. Malignant hyperthermia
is not described in NS)
5. Turner syndrome
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 3 Sept 2020
2. Purpose
Children with Noonan’s syndrome may first present to the Community Paediatric Service.
As the condition may involve long term multidisciplinary input it is important to have an
evidence based approach to these children. This guideline will help clinicians to recognise
and manage this condition and plan investigations and referrals appropriately.
3. Definitions / Glossary
AS Associate Specialist Doctor
BCH Birmingham Children’s Hospital
CAMHS Child and Adolescent Mental Health Service
CFC Cardio-facio-cutaneous syndrome
CDC Child Development Centre
CPG Clinical Policies Group
CP Community Paediatrics
ECHO Echocardiogram
GORD Gastro oesophageal reflux
HCM Hypertrophic cardiomyopathy
MRI Magnetic Resonance Imaging
MDT Multidisciplinary Team
MPH Mid Parental Height
NS Noonan Syndrome
NC Nurse Consultant
SD Specialty Doctor
SG Staff Grade
SEN Statement of Educational Needs
TS Tanners Staging puberty
4. Duties
4.1 Chief Executive
The Chief Executive has ultimate accountability for the strategic and operational management of the Trust, including ensuring there are effective and appropriate processes in place for the medical management and health surveillance of children with Noonan Syndrome 4.2 Director of Nursing & Medical Director The Director of Nursing & Medical Director have responsibility for ensuring that children with Noonan Syndrome are offered appropriate medical management and health surveillance checks in place and support patient safety at all times. 4.3 Service Managers Service Managers are responsible for the day to day operational management and coordination of the medical management and health surveillance of children with Noonan’s
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 4 Sept 2020
syndrome in line with the clinical guideline and ensuring their teams are aware of the MDT responsibilities in the care of children with Noonan Syndrome. 4.4 All Clinical Staff Clinical staff are key essential members of the Multidisciplinary team (MDT), in ensuring that children with Noonan’s syndrome are managed appropriately as per national / local guidelines and are offered regular health surveillance checks. All clinical staff are required to comply with this guideline and to report any adverse care related issues to their line manager and to complete a Datix incident report in line with the Trust’s Incident reporting policy.
5. Management of Noonan’s syndrome – Routine baseline investigations/referrals
6. Health surveillance
System Complications History/ Examination Interventions
Neurology
Seizures Arnold Chiari
Malformation Hydrocephalus
Craniosynostosis Hypotonia leading
to gross motor delay.
Headache Seizures Neurologic
examination. Measure and plot head
circumference.
Consider Magnetic Resonance Imaging (MRI)
Refer to hospital consultant/Neurologist.
Behavioural/
Psychology/
Development
Learning difficulties
Problems with Motors delay
Executive dysfunction
Inattention Speech delay. Mood and Anxiety
disorders.
Developmental milestones.
Speech Coordination Attention span Mood swings Anxiety Developmental
assessment. Assess general
demeanour for depression.
Refer for CDC assessment at 2 years.(Recommendation is for formal assessment between 6-12 months of age but local policy is wait until child is over 2 years old)
Consider SALT, OT, physiotherapy input if indicated.
Consider CAMHS input if indicated.
Special Educational Needs (SEN) referral if indicated.
1. Monitor and plot growth on appropriate NS and age-based growth chart (see appendix).
2. Refer for cardiac evaluation at diagnosis 3. Refer for renal ultrasound at diagnosis. 4. Refer for ophthalmology assessment at diagnosis. 5. Refer for Child Development Centre (CDC) after 2 years of age. 6. Coagulation screening in patients aged 5+, or earlier if major procedure to
be undertaken. 7. Refer for genetic counselling, mutation testing and discussion of risks to
children and options in pregnancy, at an appropriate time
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 5 Sept 2020
Opthalmology
Squint Ptosis Accommodation
defects requiring glasses
Anterior segment abnormalities
Posterior segment changes.
Ask about parental concerns regarding Squint or visual acuity.
Check if seen by ophthalmologist or not?
Cover /uncover test for squint.
Visual acuity assessment.
Red reflex.
Refer to Ophthalmologist at diagnosis and at-least once after 11 years of age.
(This is to ensure that child is being followed up by Ophthalmologist and does not slip out of the net)
Refer if concerns from Parents/School.
Hearing
Conductive hearing loss
Sensory neural hearing loss-rare
Ask for parental concerns regarding speech delay.
Check neonatal hearing test results.
Look for glue ears.
To be reviewed annually by audiologist till 11 years of age, to prevent speech developmental problems.
To refer for hearing assessment if concerns.
Cardiac
Pulmonary valve stenosis
Hypertrophic cardiomyopathy (HCM)
Aortic valve dysplasia
Mitral valve prolapse
Feeding difficulty in infants.
Failure to thrive. Shortness of breath Cyanosis. Heart sounds &
murmurs. Check Femoral pulses Blood Pressure if
possible.
Full cardiac assessment (including ECG/ECHO) at diagnosis.
Annually for first 3 years then at 5 and 10 years of age.
Annually after 11 years till adulthood.
Refer to cardiologist as indicated if symptomatic.
(Even if the cardiac assessment/echocardiogram ECHO is normal previously)
Gastrointestinal
Swallowing incoordination.
Gastro oesophageal reflux (GORD)
Malrotation Failure to thrive.
Ask for choking episodes, & vomiting.
Weight gain. Evidence of poor
coordination. Abdominal distension Bowel sounds
Refer to speech and language if indicated.
Refer to dietician if indicated.
Try anti-reflux medications if indicated.
Contrast studies/Ultra sound if indicated and refer to gastroenterologist if indicated.
Investigate for failure to thrive if indicated.
Growth
Failure to thrive. Short stature.
Feeding issues as earlier described.
Short stature: Growth velocity, Mid Parental height and target centile. (MPH)
For failure to thrive as above.
Refer to Endocrinologist if growth velocity is below the mean for NS growth chart or if height
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 6 Sept 2020
Measure height accurately.
Plot on appropriate charts (see appendix)
is below the 2.5 S.D. from the mean for standard chart.
Note about 50% of NS children achieve normal predicted height without treatment.
Renal
Renal pelvis dilatation
Duplex system Hypoplasia Renal agenesis Ectopic kidneys Cysts
Ask for frequency, dysuria, and oliguria.
Antibiotic prophylaxis. Puffiness
Blood Pressure
Needs renal ultra sound at diagnosis.
Refer to Nephrologist if abnormalities detected.
Reproductive
Cryptorchidism. Delayed Puberty
in males. Infertility.
Presence of both the testicles in infancy.
Examine Genitals in infancy to exclude undescended testicle.
Tanners staging of puberty. (TS)
Onset of Puberty? Sexually active?
Refer to Urologist for Undescended testicles (Mr Chandran, BCH)
Refer to Endocrinologist of pubertal delay. (Increased risk of infertility in males)
Endocrine
Short stature. Autoimmune
thyroid disease. Delayed Puberty. Male infertility.
Ask about Growth.(MPH, TS)
Symptoms about hypothyroidism: Excessive sleep, lethargy, weight gain.
Onset of puberty. Sexual activity. Plot on the NS growth
charts. Monitor growth
velocity. Heart rate, Thyroid
gland. Tanner’s classification.
Refer to Endocrinologist if growth velocity is below the mean for NS growth chart or if height is below the 2.5 standard deviations (S.D.) from the mean for standard chart.
Thyroid function test every 3-5 yearly or earlier if indicated.
Musculoskeletal
Scoliosis Talipes (5%) Hypermobility.
Ask for bony deformities, problems with gait or posture.
Any interventions done so far.
Ask if already on Growth Hormone.
Musculoskeletal examination
Refer to Orthopaedics if indicated.
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 7 Sept 2020
Bleeding defects
Prolonged bleeding.
Ask for bruising/bleeding tendency.
Look for any signs of active bleeding or bruises
Coagulation screen with full blood count after 5 year of age, or earlier if indicated and prior to any surgical intervention.
Refer to Haematologist if concerns (Dr Andrew Cowley paediatrician with interest in haematology/oncology)
Skin
Keratosis. Ask for dry skin Dry skin. Bruising, Scratch marks.
Avoid skin dryness (long hot baths, perfumed soaps)
Try emollients, keratolytic agents or short course of topical steroids.
Refer to dermatologist if indicated.
Lymphoedema
Soft tissue swelling of extremities.
Ask for pedal oedema at birth or any other soft tissues swelling.
Examine for non-pitting oedema.
Treat only if symptomatic.
Refer to Lymphoedema Nurse; R. Elwell, City Hospital Stoke on Trent
Refer to Vascular surgeon if indicated.
6. Consultations
The clinical guideline was discussed and presented at the Community Paediatric medical
team meeting.
Dr Ganesh, Clinical Lead in CP / Consultant Paediatrician / Medical Director
Dr Minnaar, Consultant Paediatrician
Dr Short, Consultant Paediatrician
Dr Buch, Consultant Paediatrician
Dr Unsworth, Consultant Paediatrician
AS Doctors; Dr Sam Postings, Dr Janet Butterworth
Specialty Doctor - Dr Sarah Ogilve
Nurse Consultant; Narinder Kular
7. Dissemination and Implementation
These guidelines will be disseminated by the following methods:
Managers Informed via DATIX system who then confirm they have disseminated to staff as appropriate
Staff via Team Brief
Published to the staff zone of the trust website
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 8 Sept 2020
8. Monitoring Compliance
The following clinical audit standards can be monitored. This could be audited every 5 years
(likely very small number of children that will be diagnosed in that time period):
Referral to Geneticist
Referral for CDC assessment
Referral to Ophthalmologist
Annual review by audiologist
Annual review by Cardiologist
Initial renal scan
Growth Parameters plotted on NS Charts.
9. References
1- Management of Noonan Syndrome: A Clinical Guideline; Noonan Syndrome Guideline Development Group 2010 Nowgen A centre got \genetics in Healthcare. Available from: https://www.noonansyndrome.org.uk/wp-content/uploads/2015/12/NS-Guidelines.pdf 2- Noonan Syndrome: Clinical Features, Diagnosis and Management Guidelines; Pediatrics 2010; 126: 746-759 10. Associated Documents
Noonan’s syndrome support group. http://www.noonansyndrome.org.uk/
Shropshire Community Health NHS Trust Consent to Examination and Treatment Policy
Shropshire Community Health NHS Trust Records Management Policy
1 11. Appendix
Noonan growth charts:
o Boys: Birth- 36 months
o Girls: Birth – 36 months
o Boys: 2-20 years
o Girls: 2-20 years
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 9 Sept 2020
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 10 Sept 2020
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 11 Sept 2020 Syndro
Shropshire Community Health NHS Trust
Noonan’s Syndrome Guideline 12 Sept 2020
elines
top related