Peter Deman Henny Janssen

Peter Deman Henny Janssen

Subclinical hypothyroidism is frequently found in adults with Down syndrome.

Literature provides no evidence about whether this condition should be treated.

Diagnosis is based on laboratory measurements; symptoms are difficult to define.

The thyroid produces hormones that stimulate the metabolism.

Hypothyroidism: the thyroid does not produce enough hormones. The metabolic rate is lowered.

Normal   Thyroid dysfunction practically excluded, euthyroidism

Increased Decreased hypothyroidism

Increased Normal subclinical hypothyroidism

TSH FT4 Diagnosis

Lowered metabolic rate: weight gain, cold intolerance, constipation, inactiveness, fatigue and menstrual problems.

Complaints and symptoms are not specific.

Predictive value of complaints is low.

High prevalence, 12-33%

According to international guidelines, adults with DS should be screened for thyroid function.

Prevalence of SH much lower:4-8%

No screening, and thyroid function tests only in case of complaints, according to NHG- standard.

Treatment with levothyroxine replacement when there is no other explanation for complaints and symptoms.

Subclinical hypothyroidism is frequently found in adults with Down syndrome.

Literature provides no evidence about whether this condition should be treated.

Diagnosis is based on laboratory measurements; symptoms are difficult to define.

Clinical expertise

Best research evidence

Patient’s unique values and circumstances

Knowledge ?

Experience?

Difficulties?

Questions ?

Suggestions for futher research?

44 years old Woman with Down syndrome TSH 5,3 (ref 0,4-4,0 mU/l) FT4 13 (ref 9-25 pmol/l)

Do you recognise this situation? Do you have experience with it? What is your first reaction?

How do you act in this situation?

Are there subgroups of people with DS where you act differently?

Have any aspects been left out?

Focus group

Focus group

Focus group

Focus group

Transcripts from five discussions (5278 sentences)

Key points marked (21 codes)

Grouped in concepts (six themes)

Basic categories (two categories)

Theory or conceptual framework

Diagnostic testing and interpretation of results varies according to ID-MD.

Investigation and registration of symptoms proves to be a difficult task.

Various resources of evidence; not always certain.

Most ID-MDs are reluctant to treat.

The minority of ID-MDs administer thyroid hormone until normalisation of laboratory findings.

They may feel uncertain or inadequate.

Describe and measure with validated rating scales

Study the natural history Involve patients and interest groups

Evaluate if a Randomised Controlled Trial on the effects of treatment is possible or useful

The development of guidelines will eventually become possible

Expertise and experience of ID-MD combined with the unique values and

circumstances of the patient will guide the decision-making.

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