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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



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



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



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



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



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.



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



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

https://www.noonansyndrome.org.uk/wp-content/uploads/2015/12/NS-Guidelines.pdf


Noonan’s Syndrome Guideline 11 Sept 2020 Syndro



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