CONGENITAL HYPOTHYROIDISM

Transcription

1 CONGENITAL HYPOTHYROIDISM This guidance does not override the individual responsibility of health professionals to make appropriate decision according to the circumstances of the individual patient in consultation with the patient and /or carer. Health care professionals must be prepared to justify any deviation from this guidance. Introduction Screening for congenital hypothyroidism has been available for more than 30 years. This was first introduced in the UK in Screening test is performed on the newborn blood spot sample for elevated thyroid stimulating hormone (TSH). In the West Midlands, babies should be tested on day 6 using heel prick blood. The screening is undertaken at the West Midlands Screening Centre at Birmingham Children s Hospital. This guideline is for use by the following staff groups : Medical and nursing staff working within Paediatrics. Dr Naeem Ahmad Dr Rachel Yew Lead Clinician(s) ST3 Paediatrics Guideline approved by Paediatric Clinical Governance 28 th February 2014 meeting on: Extension approved on: 22ns July 2015 This guideline should not be used after end of: 28 th February 2017 Key amendments to this guideline Date Amendment By: Guideline approved by Medicines safety group Guideline approved Paediatric Clinical Governance Committee 12 July 2013 Reference added-,initial Naeem Ahmad Clinical Referral, Standards and Guidelines,January 2013 January 2014 Guideline reviewed with some amendments made to Naeem Ahmad content. March 2016 Document extended for 12 months as per TMC paper approved on 22 nd July 2015 TMC WAHT-PAE-082 Page 1 of 11 Version 1.2

2 Introduction CONGENITAL HYPOTHYROIDISM Screening for congenital hypothyroidism has been available for more than 30 years. This was first introduced in the UK in Screening test is performed on the newborn blood spot sample for elevated thyroid stimulating hormone (TSH). In the West Midlands, babies should be tested at 5-8 days old using heel prick blood. The screening is undertaken at the West Midlands Screening Centre at Birmingham Children s Hospital. Details of Guideline Management of infants with positive screening results Clinical aim: - To commence treatment as soon as possible after a positive screening result for congenital hypothyroidism improve neuro-developmental outcome. - To ensure these infants receive the appropriate investigations, management and follow-up required. Screening programme will not detect secondary or tertiary hypothyroidism as it uses primary TSH method, and infants may only present with other signs of congenital hypothyroidism such as prolonged jaundice. Similarly, infants with a delayed TSH rise, thyroid binding globulin deficiency and hyperthyroxinaemia will not be detected by the screening programme. Contacts Mr. Paul Griffiths, Consultant Biochemist Director, Newborn Screening Laboratory Ms Kate Hall, Principal Biochemist, Newborn screening Laboratory Screening Duty Biochemist Dr Naeem Ahmad,, Alexandra Hospital, Redditch Office x Secretary: x Dr John Scanlon,, Worcestershire Royal Hospital Secretary: or Ext WAHT-PAE-082 Page 2 of 11 Version 1.2

3 Management of - Flow Chart Positive result TSH >20 mu/l or >10 mu/l on 2 occasions Screening lab notifies *designated consultant/on-call consultant *Dr Naeem Ahmad/Dr John Scanlon Family contacted and baby must be seen on the same or the following day. *There is no need for the baby to be admitted* History: Affected sibling, family history of thyroid illness/problems, thyroid disease or antithyroid therapy in mother, symptoms (poor feeding, sleepiness, jaundice, constipation, cold peripheries, hoarse cry). Examination: Weight, height, head circumference. Signs of hypothyroidism (coarse facies, umbilical hernia), hoarse cry. Careful cardiac examination, assessment of hip stability, presence/absence of goitre. Investigations - 1ml venous blood for FT4 and TSH (inform lab urgent), results within 1h - 3ml of blood from mother for FT4, TSH and thyroid antibodies - Radioisotope thyroid scan - before or within 5 days of starting thyroxine. Contact nuclear medicine on Fax: or BCH Tel.Ext: Treatment To be started after confirmatory blood tests above have been taken. Starting dose is micrograms/kg/day of Levothyroxine (once daily in the morning). (Maximum 50 micrograms once daily in the morning) Provide information leaflet to parents. (Appendix 2) Complete and return the positive screen proforma to the Duty Biochemist at the Newborn Screening Laboratory. (Appendix 1) Follow-up: - 2, 4 & 8 weeks - 3,6,9 and 12 months years (6 monthly) - Yearly from then onwards * Monitor FT4, TSH, growth and development. \ WAHT-PAE-082 Page 3 of 11 Version 1.2

4 Treatment of congenital hypothyroidism To be started after confirmatory blood tests above have been taken. Starting dose is micrograms/kg/day of Levothyroxine once daily in the morning (Maximum 50 micrograms once daily) Tablets should be crushed between 2 spoons and given to the baby with a little milk or water using a teaspoon. Parents should be explained how to crush the tablets between two spoons. Do not add to a bottle. Do not use a syringe. Tablets come as multiples of 25 micrograms. Intermediate doses may be achieved by giving, for example, 2 tablets alternate days, 1 tablet alternate days. Do not use suspensions due to variable bioavailability. Aim to keep the FT4 towards the upper limit of normal range TSH takes weeks to normalized but FT4 settles quickly. If FT4 is satisfactory but TSH is significantly raised consider non-compliance. Parent Information There are parent information leaflets which are usually sent with the notification of an abnormal result. There is also information for parents at: British Thyroid Foundation. PO Box 97, Clifford, Wetherby, West Yorkshire. LS23 6XD Child Growth Foundation. 2 Mayfield Avenue, Chiswick, London. W4 1PW (See appendix 2) WAHT-PAE-082 Page 4 of 11 Version 1.2

5 Monitoring Tool How will monitoring be carried out? Clinical Audit Who will monitor compliance with the guideline? Paediatric Clinical Governance Committee STANDARDS % CLINICAL EXCEPTIONS L Thyroxine started between days of life 100% ne Radioisotope thyroid scan - before or within 5 days of starting thyroxine 100% ne Follow up according to the guideline 100% ne References 1.,Initial Clinical Referral, Standards and Guidelines,January Mann N P, Congenital hypothyroidism-what s new? Paediatrics And Child Health 2011; 21:7: Guidelines for follow-up of babies with positive newborn screening blood test for congenital hypothyroidism - Birmingham Children s Hospital NHS Trust Paediatric Laboratory Medicine Clinical Chemistry Department. P Griffiths. Sept Guideline for the management of congenital hypothyroidism in Scotland Greater Glasgow and Clyde NHS Trust Department of Child Health, Department of Paediatrics, Department of Biochemical Genetics, National Newborn Screening Laboratory. Donaldson, Jones, Brown. Oct Staffordshire, Shropshire and Black Country Newborn Network Guidelines. Hypothyroidism WAHT-PAE-082 Page 5 of 11 Version 1.2

6 Appendix 1 PROFORMA POSITIVE SCREEN FOR CONGENITAL HYPOTHYROIDISM Please fill in or correct the information requested below and fax the completed form to as soon as possible following the clinic appointment. Baby s Name: D.O.B. Gender : Hospital : NHS : Address: Specimen Date Date received Age of baby Screening Results Mean TSH: Mean TSH: miu/l miu/l Birthweight: (kg) Gestation Ethnicity: Date of referral: Referred to: Date of clinic: Hospital: Seen by: Plasma Thyroid Results TSH Free T4 Anti-thyroid Ab Date: Was the baby treated? Y/N miu/l Date treatment started: pmol/l Starting dose: Did the baby have a thyroid scan? Y/N Scan result: Iodine exposure to baby Y/N Consanguinity Y/N Details Family history of thyroid disease? Y/N Details Jaundiced? Y/N Feeding problems? Y/N Sleepy? Y/N Constipation? Y/N Umbilical Hernia? Y/N Goitre? Y/N Additional information/clinical details Form completed by: Date of completion: Tel: WAHT-PAE-082 Page 6 of 11 Version 1.2

7 Appendix 2 Parent Information Leaflet CONGENITAL HYPOTHYROIDISM (bsped.org.uk) As you know a small blood sample for chemical testing was taken from your baby (usually by a heel prick with the blood spotted onto a card) between the sixth to tenth days of life. The tests on that sample have shown that your child may have congenital hypothyroidism. This is a condition in which there is underactivity of the thyroid gland (hypothyroidism) present at the time birth (congenital). The thyroid gland lies in the front of the neck across the upper part of the trachea (windpipe). Its main function is to produce and transfer into the blood a chemical (hormone) called thyroxine. After birth (but fortunately only to a much lesser extent before birth) this hormone has an important role in regulating the growth and development and the chemical activity of nearly all the cells in the body, including the brain. Lack of thyroxine causes slowing of these processes. It is essential at all times of life but particularly in the growing child. What causes congenital hypothyroidism? For reasons which are understood in only a few cases, in about 1 child in 3,500 the thyroid gland either fails to develop properly before birth or fails to work adequately. This is seldom apparent from the baby's physique or behaviour until some weeks after birth but it is extremely important to identify the problem early because if it remains undetected and untreated there is slowing of the development of all organ systems including the brain. If thyroxine is not given within the first few weeks after birth brain damage can occur. For this reason all babies are now tested for this condition. If the screening test shows any indication of underactivity thyroid function must be more accurately checked on a liquid blood sample. If this confirms underactivity treatment with thyroxine is started immediately. As long as the thyroxine is started within a few weeks of birth growth and development is normal. Treatment Thyroxine is made chemically and is available as small white tablets (it is not possible to make a reliable liquid preparation) in 25, 50 and 100 microgramme (mcg) sizes. Most babies are started on a dose of mcg a day. (A dose equivalent to 37.5mg a day can be given by giving 25 and 50 mcg on alternate days). The tablets are easily crushed and given with some milk off a spoon. On treatment further blood samples are needed to allow adjustment of the dose to produce a normal level of thyroxine and the thyroid controlling hormone (TSH) in the blood. Frequent blood tests are needed at first but these can be less frequent as the child grows older. The dose of thyroxine needs to be increased as the child grows but most adults need only mcg per day. Do not be misled by the small size and unimpressive nature of the thyroxine tablets, this hormone is absolutely essential for the normal growth and development of your child. Establish a foolproof routine for giving the tablet daily. An occasional missed tablet is inevitable and does not matter because thyroxine is slowly used in the body, it is not necessary to give an extra one when the omission is realised. Rarely congenital hypothyroidism may prove to be transient and the function of the gland may recover. If there is any doubt that lifelong thyroxine treatment is needed a further check on the function of the gland can be made. This requires stopping treatment briefly and is best done when the child is a little older, usually after the age of two or three years. harm at all will have resulted from giving thyroxine up till then because the natural secretion from the gland is adjusted to maintain a normal level. WAHT-PAE-082 Page 7 of 11 Version 1.2

8 Outlook On treatment the child with congenital hypothyroidism is entirely normal. This is not a medication, it is simply an exact replacement of a missing chemical. There is therefore no need to worry whether the child can have normal immunisations, treatment needed for other conditions and so on, nothing is barred. There is naturally a tendency to worry that quirks of physique or behaviour may relate to the congenital hypothyroidism or its treatment but be assured that as long as the thyroxine dose is appropriate, they do not. WAHT-PAE-082 Page 8 of 11 Version 1.2

9 CONTRIBUTION LIST Key individuals involved in developing the document Name Designation Dr N Ahmad Circulated to the following individuals for comments Name Designation Dr M Ahmed Dr T Bindal Dr D Castling Dr T C Dawson Dr T El-Azzabi Dr A Gallagher Dr M Hanlon Dr L Harry Dr B Kamalarajan Dr K Nathavitharana Dr C Onyon Dr J E Scanlon Dr A Short Clinical Director/ Dr V Weckemann Dr F Childs - Community Dr J Crane - Community Dr D Lewis - Community Dr A Mills - Community A Borg Directorate Manager D Picken Matron, Paediatrics N Pegg Ward Manager, Riverbank L Greenway Ward Manager, Ward 1 S Courts Orchard Services Manager M Chippendale Advanced Nurse Practitioner Matt Kaye/Sarah Scott Lead Pharmacist for Paediatrics and Neonatal WAHT-PAE-082 Page 9 of 11 Version 1.2

10 Supporting Document 1 - Equality Impact Assessment Tool To be completed by the key document author and attached to key document when submitted to the appropriate committee for consideration and approval. Yes/ Comments 1. Does the policy/guidance affect one group less or more favourably than another on the basis of: Race Ethnic origins (including gypsies and travellers) Nationality Gender Culture Religion or belief Sexual orientation including lesbian, gay and bisexual people Age 2. Is there any evidence that some groups are affected differently? 3. If you have identified potential discrimination, are any exceptions valid, legal and/or justifiable? 4. Is the impact of the policy/guidance likely to be negative? 5. If so can the impact be avoided? 6. What alternatives are there to achieving the policy/guidance without the impact? 7. Can we reduce the impact by taking different action? If you have identified a potential discriminatory impact of this key document, please refer it to Human Resources, together with any suggestions as to the action required to avoid/reduce this impact. For advice in respect of answering the above questions, please contact Human Resources WAHT-PAE-082 Page 10 of 11 Version 1.2

11 Supporting Document 2 Financial Impact Assessment To be completed by the key document author and attached to key document when submitted to the appropriate committee for consideration and approval. Title of document: 1. Does the implementation of this document require any additional Capital resources 2. Does the implementation of this document require additional revenue Yes/ 3. Does the implementation of this document require additional manpower 4. Does the implementation of this document release any manpower costs through a change in practice 5. Are there additional staff training costs associated with implementing this document which cannot be delivered through current training programmes or allocated training times for staff Other comments: If the response to any of the above is yes, please complete a business case and which is signed by your Finance Manager and Directorate Manager for consideration by the Accountable Director before progressing to the relevant committee for approval WAHT-PAE-082 Page 11 of 11 Version 1.2