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 (www.rettuk.org) 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 Syndrome||Tuberous Sclerosis (Epiloia)|
|Inheritance||TRISOMY Chromosome 21 94% non-dysjunction 3–5% translocation 1–3% mosaicism||Usually sporadic Autosomal dominant (Chr 9, 11, 16)|
|Cognitive Phenotype||Most 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 Phenotype||Phenotype Alzheimer’s dementia (45% > 45 years) Depression OCD||Depression Anxiety Specific phobias Psychosis (Epilepsy related)|
|Behavioural Phenotype ie: Predisposition to certain patterns of behaviour||Sociable Good-natured Stubborn||Autism Hyperactivity self-injury Sleep problems Aggression|
|Weblink||www.downs-syndrome.org.uk||www.nlm.nih.gov.med lineplus/tuberousclerolsis.html www.ninds.nih.gov|
|Somatic Phenotype||Down’s Syndrome||Tuberous Sclerosis (Epiloia)|
|CNS||Epilepsy (mostly linked with Alzheimer’s)||Epilepsy (70%) Cerebral astrocytomas|
|Cardio-vascular||Congenital heart disease (46–60%) AV canal defect Tetralogy of Fallot||Cardiac Rhabdomyomas|
|Endocrine||Endocrine Thyroid disorder in 25% (esp. hypothyroid) Advise annual TFT|
|Audiovisual||Visual impairment Hearing impairment (both mulifactorial; advise annual checks)||Retinal tumours|
|Muscular/Skeletal||Atlanto-occipital and atlanto-axial instability Hypotonia|