Rare Disease Day 2021: 5 rare neurological diseases eased by neuro OT intervention

Posted in Blog

One in 17 people in the UK will be affected by a rare disease during the course of their life [1], and most of those diseases are genetic[2].

However, of that majority, nearly a third are neurological disorders or have neurological symptoms, impacting sufferers’ lives in myriad ways[3].

On Rare Disease Day 2021 (February 28), we focus on 5 rare neurological diseases eased by commonly used yet uncommonly good neurological occupational therapy practices.

Brain vein stroke

Cerebral venous thrombosis (CVT), a type of stroke, is a rarity in several ways.

Not only does it account for less than 1 per cent of all strokes, but it also arises from blocked veins in the brain, not blocked arteries - the cause of most other strokes.

And whereas most strokes strike the older generations and are more common in men, CVT affects young adults and is more common among women.

Neuro occupational therapy approaches to CVT, however, remain true to those used for other types of stroke as the cognitive and physical aftereffects can be similar, such as:

Fatigue.
Speech or visual impairment.
Muscle weakness or paralysis.
Pain.
Sensory or perceptual changes.
Communication and memory problems.

The UK’s Stroke Association recognises occupational therapists as ‘an important part’ of rehabilitation post-stroke [4].

In its guide, ‘Occupational therapy after stroke’, it recommends OT help in:

Developing skills and confidence.
Managing and adapting activities key to health and wellbeing.
Practising skills to improve independence.
Providing aids and equipment.
Home adaptations.
Planning a return to work/education/leisure pursuits.

The Royal College of Occupational Therapists (RCOT) offers the same advice in ‘Supporting Stroke Survivors’ [5], a guide drawn up in collaboration with the Stroke Association.

Guillain-Barré Syndrome

Guillain-Barré Syndrome (GBS) can strike anyone at any time of their life without warning [6].

Also known as acute inflammatory demyelinating polyneuropathy (AIDP), GBS is diagnosed in just one or two people in every 100,000 every year.

Believed to be triggered by an immune system fault, GBS symptoms include numbness, weakness and pain in the hands, feet and limbs, and problems with balance and coordination.

In more serious cases, there may be difficulties with walking, breathing and swallowing.

The GBS/CIDP Foundation International, which supports sufferers of GBS and chronic inflammatory demyelinating polyneuropathy (CIDP), points to OT and physiotherapy as ‘integral parts of the recovery and management of GBS [7].

In its Guidelines for Physical and Occupational Therapy [6], the foundation concludes the ‘proper utilization’ of the 2 allied health professions can:

Help to reduce pain.
Increase strength and endurance.
Prevent secondary complications.
Improve balance and mobility.
Restore functional activity.

Recovery from GBS can be protracted, lasting months to 2 years or longer, but up to 20 per cent of sufferers may experience long term disability.

Corticobasal Degeneration

Corticobasal Degeneration (CBD) is one of the rarest in a group of neurological disorders known as Parkinsonisms.

These disorders cause movement problems like those seen in Parkinson’s disease – moving slowly, stiffness and tremors – but tend to progress more rapidly.

CBD affects people from the age of 40 and one side of the body more than the other.

There are an estimated 5 CBD sufferers per 100,000 in the general population [8]. Symptoms, which slowly spread and worsen over time, also include:

‘Alien limb’ syndrome in which limbs move involuntarily.
Loss of coordinated movement in one hand (apraxia).
Awkward movement and spasms (dystonia).
Balance and coordination difficulties.
Communication problems.
Swallowing difficulties.

In a recent analysis of CBD, the American Parkinson Disease Association concluded treatment should focus on symptom management to maintain quality of life.’ [9]

The PSP Association (PSPA), the UK’s only charity providing support for sufferers of CBD and another parkinsonism, Progressive Supranuclear Palsy (PSP), advocates ‘ongoing holistic OT assessment and intervention’ as part of a symptom management plan.

It has drawn up a comprehensive guide for OTs on how best to help sufferers and their families through all CBD stages, from diagnosis to palliative rehabilitation., with topics including:

Cognitive changes.
Communication.
Vision.
Fatigue management.
Transfers.
Mobility, and stairs.
Falls.
Eating and nutrition.
Personal care.

‘OTs can effectively use their clinical reasoning and learnt knowledge of the conditions to work with people living with PSP and CBD, even if they have limited prior experience in this area.’ PSPA OT Guide

Multiple System Atrophy

Another Parkinsonism, muscular system atrophy (MSA), currently affects around 3,300 people in the UK and Ireland[10].

The disease is caused by degeneration of nerve cells in several areas of the brain, leading to impairments in autonomic function, such as blood pressure control, and problems with movement and balance.

An estimated 5 people per 100,000 have MSA worldwide, with 3,000 people living with the disease in the UK [11]. It usually starts after the age of 50.

A central role for the occupational therapist is helping the person with MSA and their family anticipate day to day problems and find solutions before they occur.

MSA Trust

The UK and Ireland’s Multiple System Atrophy Trust has compiled the ‘Guide to MSA for Occupational Therapists [12]in which it urges OTs to watch out for key, distinguishing signs of the condition, including:

Autonomic failure.
Poor response to levodopa, the most potent medication for Parkinson's disease’ [13].
Akinetic rigid Parkinsonism or cerebellar ataxia.

Batten Disease

Batten Disease is one of several different neurodegenerative diseases known as neuronal ceroid; lipofuscinoses (NCLs). They are genetic and life-limiting.

Up to 3 children a year are diagnosed with the infant form of Batten Disease, with between 7 and 10 children suffering the late-infantile form. It is extremely rare in adults[14].

The progression of Batten Disease symptoms inevitably brings about the end of life sometime between early childhood and young adulthood. Symptoms can include:

Rapid involuntary muscle spasms.
Complex epilepsy.
Increasing visual impairment resulting in blindness.
Increasing speech, language and swallowing problems.
Fine and gross motor skill deterioration resulting in loss of mobility.

In a recent Facebook Q&A with the US’s Batten Disease Support and Research Association [15], one OT explained how the profession could help by:

Maintaining skills a child developed before regression.
Facilitating environmental adaptations to enable continued participation in family, school, and community activities.
Addressing visual concerns.
Providing specialist equipment such as hand splints and bathing aids.
Assessing communication, sensory and behavioural concerns.

In the UK, the Batten Disease Family Association also encourages members to make the most of occupational therapy intervention in its specialist guide to juvenile Batten disease [16].