by Dr Rose Thompson, Dr Glyn Jones & Professor Mike Kerr


Knowledge of a particular phenotype, physical or behavioural, can help a clinician in the consultation. For example, it is known that people with Fragile X Syndrome become uncomfortable when engaged in direct eye contact, so a clinician may have a more productive consultation if they sit next to the individual, rather than in front of them. A recent successful example of responding to a known physical phenotype is the addition of thyroid function screening in people with Down Syndrome to the routine screening services offered by GPs in the UK the QOF LD. In that case GPs receive a payment for ensuring a high uptake of thyroid screening in people with Down Syndrome.

Developing a personal plan

The question arises as to how, in the absence of a structured response from heath services, such as with health checks, an individual or carer can ensure that a person has health care focussed to their specific needs. In most instances it is quite likely that parents or other carers may become experts in a rare condition and feel their knowledge is greater than that of their physicians. It is possible that the syndrome charity may have provided written information to help the GP about health needs. This is the case for Rett Syndrome, where Rett UK ( has developed a pack for primary care teams. For most individuals it may simply mean that an empowered family will work with the GP to inform them of their child’s health needs. This is an important and probably relatively simple way to inform the GP and to set targets for ensuring the appropriate health promotion is performed.

In summary our management of the health needs of people with an intellectual disability should be changing for the better, with new knowledge gained through scientific research. Sadly such change is usually slow. We suggest that empowerment of carers, families and individuals is the most likely way to promote rapid change.

Clinical syndromes associated with Down Syndrome and Tuberous Sclerosis

 Down’s SyndromeTuberous Sclerosis (Epiloia)
InheritanceTRISOMY Chromosome 21 94% non-dysjunction 3–5% translocation 1–3% mosaicismUsually sporadic Autosomal dominant (Chr 9, 11, 16)
Cognitive PhenotypeMost Moderate LD (IQ 20–75, mean IQ 50)Variable IQ (dep. on site & severity of tubers in brain) approx. 50% have LD (most severe-profound)
Psychiatric PhenotypePhenotype Alzheimer’s dementia (45% > 45 years) Depression OCDDepression Anxiety Specific phobias Psychosis (Epilepsy related)
Behavioural Phenotype ie: Predisposition to certain patterns of behaviourSociable Good-natured StubbornAutism Hyperactivity self-injury Sleep problems Aggression lineplus/tuberousclerolsis.html
Somatic PhenotypeDown’s SyndromeTuberous Sclerosis (Epiloia)
CNSEpilepsy (mostly linked with Alzheimer’s)Epilepsy (70%) Cerebral astrocytomas
Cardio-vascularCongenital heart disease (46–60%) AV canal defect Tetralogy of FallotCardiac Rhabdomyomas
EndocrineEndocrine Thyroid disorder in 25% (esp. hypothyroid) Advise annual TFT
AudiovisualVisual impairment Hearing impairment (both mulifactorial; advise annual checks)Retinal tumours
Muscular/SkeletalAtlanto-occipital and atlanto-axial instability Hypotonia
(Adapted from the Syndrome Specific Checklist Dr RG Jones)