Page 29 - Handbook of Electronic Assistive Technology

16 HANDBOOK OF ELECTRONIC ASSISTIVE TECHNOLOGY

Neurocutaneous Conditions
As we saw, nerve and skin cell types are interlinked at a very early embryological develop-
mental stage. If abnormalities occur in early embryological cell lines then there are a vari-
ety of syndromes involving nerve and skin that can develop. Tumours and hamartomas
(benign growths full of faulty but normalish cells) are common in the brain, spine, skin,
organs and bones.
Mobility, communication and vision can all be impaired. Epilepsy, learning difficulties
and behavioural problems are all seen at a higher rate. There can also be renal involvement
in the kidneys, especially in tuberous sclerosis.
There are a number of specific disorders, including:

• Tuberous sclerosis (1 in 6000):
• Autosomal dominant/spontaneous.
• Growths in brain and organs.
• Neurofibromatosis I (1 in 2500):
• Autosomal dominant/spontaneous.
• Light brown ‘café au lait’ skin patches.
• Hamartomas or neurofibromas in skin, CNS and other organs.
• Neurofibromatosis II (1 in 25,000):
• Autosomal dominant/spontaneous.
• Later presentation.
• Tumours on the hearing cranial nerve – problems with hearing, balance and walking.
• Sturge–Weber (rare):
• Spontaneous genetic mutation.
• Red/purple ‘port wine stain’ caused by overabundance of capillaries near the skin
surface. Blood vessels on the same side of the brain as the stain may also be affected.
• Features may include visual impairment, seizures, muscle weakness, paralysis and
developmental delays.
• Ataxia telangiectasia:
• Recessive.
• Progressive ataxia and poor motor control from cerebellar degeneration.
• Multidisciplinary team (MDT) input vital.

Acquired Brain Injury
It is imperative to score and regularly reappraise levels of consciousness in any acute
injury to the brain from whatever cause, and this is done utilising the Glasgow Coma Scale
(GCS), or in children the modified GCS. This provides a 15-point score based on (1) best
verbal response, (2) best motor response and (3) eye opening to stimulus. A low score is
poor prognosis in both morbidity and mortality.
The sequelae to any injury are dependent on site and severity of the problem and the
speed of initial management. Mild brain injury is generally recovered from well, except
for increasing recognition of mild behavioural and learning difficulties. Moderate injury is