Eating, Weight and Swallowing in Huntington’s Disease

Eating, weight and swallowing in Huntington’s: why calories are clinical

In most conditions, nutrition advice is about eating less of the wrong things. In Huntington’s disease it is the reverse, and the reversal is so complete that families are routinely given advice that is actively harmful.

People with Huntington’s lose substantial weight, with reduced muscle mass and a falling body mass index, and the loss can begin in the prodromal stage — before the diagnosis, before the chorea, before anybody knows anything is wrong. GeneReviews attributes it to a combination of factors: chorea increases energy expenditure considerably, and metabolic and mitochondrial disturbances are thought to contribute independently. The consequence is that people with HD usually need very high calorie intakes just to maintain weight.

Which means the dietary goal in Huntington’s is more fat, more sugar, more cream, more butter, full-fat everything, and supplements between meals. A person with HD told by a well-meaning health professional to cut back on saturated fat and watch their weight has been given the wrong advice, and lower weight in HD is associated with worse outcomes.

Then, later, swallowing fails — and choking and aspiration pneumonia become a frequent cause of death in Huntington’s disease.

So this subject carries two of the biggest clinical stakes in the condition, and it is handled thinly in most material. This guide covers the energy problem, what actually goes wrong with eating in HD and why it is not only swallowing, the practical business of mealtimes, the swallowing changes and how to respond, the feeding tube question, and what support workers and families need to get right.

The energy problem

Why intake has to be so high:

Chorea burns calories. Continuous involuntary movement through every waking hour is a substantial, unrelenting energy cost. Estimates of the additional requirement vary and are high.

Metabolic change independent of movement. The weight loss in HD is not fully explained by chorea, and is thought to involve metabolic and mitochondrial disturbance. This is why weight can fall before movement symptoms appear, and why people with the akinetic-rigid form lose weight too.

Intake falls at the same time. Meals become slow, difficult and tiring. Attention wanders. Apathy means the person does not initiate eating. Executive dysfunction means they do not plan, shop or cook. Dysarthria and dysphagia make eating effortful. Depression suppresses appetite. Some medications do too.

So the two curves move apart: requirement rising, intake falling. Without intervention the result is predictable and it is one of the more reversible problems in Huntington’s disease.

What to do about it:

Weigh weekly and write it down. Same scales, same time of day. Take the record to every appointment. This is the single most useful thing a family or support worker can do, because a documented eight-week trend changes clinical decisions in a way that an impression does not.

Get a dietitian involved early. Not after significant loss. A dietitian with experience in neurological conditions, and ideally in HD. Note that dietetics sits in a contested zone between the health system and the NDIS — ask the HD service which route works in your state, and if one refuses, ask the other. See Huntington’s disease and the NDIS.

Think calorie density, not volume. This is the governing principle. If eating is slow and tiring, the aim is more energy in less food and less time.

Fortify everything. Cream in soup. Butter in mashed potato. Full-fat milk made up with milk powder for extra protein and calories. Cheese on and in things. Oil through pasta and vegetables. Nut butters. Avocado. Honey or sugar in porridge, yoghurt, drinks. Ice cream as a legitimate food group.

Prescribed supplement drinks between meals, in addition to food rather than in place of it. Available on prescription in some circumstances; the dietitian will advise.

Snacks constantly, and in reach. Somebody with apathy will eat what is in front of them and will not go looking. A bowl of nuts, cheese and crackers, a milkshake left where they sit.

Six small meals rather than three large ones.

Use the good part of the day. Most people with HD eat better earlier, before fatigue accumulates.

And stop anybody who suggests a low-fat diet, unless there is a specific co-existing reason for it that a doctor has explained. This happens, and it should be challenged.

What actually goes wrong with eating

It is tempting to treat this as a swallowing problem. It is not, or not only — it is at least four problems, and they need different answers.

The movement problem. Chorea of the head, trunk and arms makes getting food from plate to mouth hard. The hand overshoots, the spoon tips, the head moves at the wrong moment. Food ends up everywhere, which is both practically difficult and, for an adult, humiliating.

The pacing and impulsivity problem. This is the one most often missed and the most dangerous. Impaired inhibition means people with HD frequently eat too fast and in too-large mouthfuls, cramming food in, taking the next bite before the first is swallowed. In a person whose swallow is also becoming unreliable, that combination is the mechanism behind most choking episodes. Slowing the pace is a specific intervention and it is not the same as modifying textures.

The attention problem. Distraction means the meal stops. A television on, a conversation, somebody walking past, and eating ceases mid-mouthful.

The initiation problem. Apathy means the meal does not start.

Then the swallowing problem, which arrives later in HD than in motor neurone disease but is serious when it does.

Treating this as four problems rather than one changes what you do. Weighted cutlery addresses the first. Supervision and verbal pacing address the second. A quiet room addresses the third. Prompting addresses the fourth. Texture modification addresses the fifth, and only the fifth.

Swallowing: what changes and what to watch for

GeneReviews describes swallowing problems in HD as arising later, from poor coordination of the oral and pharyngeal muscles, and notes that they can cause choking and aspiration pneumonia, which is a frequent cause of death.

Signs to watch for:

• Coughing or throat-clearing during or after eating or drinking, particularly with thin fluids
• A wet or gurgly voice after swallowing
• Food or fluid coming back through the nose
• Needing several swallows for one mouthful
• Food catching, or a sensation of something stuck
• Meals taking much longer, or being abandoned
• Weight loss
• Recurrent chest infections or unexplained low-grade fevers
• Drooling, or saliva pooling
• Avoiding particular foods

Two things to know. First, thin fluids are usually harder than solids in neurological swallowing problems, which surprises people — water moves fast and is hard to control, while a thicker consistency is easier to manage. Somebody coughing on water and managing a sandwich is not being inconsistent.

Second, silent aspiration happens. Material can enter the airway without producing a cough. The absence of coughing does not mean swallowing is safe, and recurrent chest infections may be the only sign.

Who assesses it. A speech pathologist. Referral should happen on the first sign rather than after an episode, and in HD it is worth asking for review periodically rather than once, because the condition changes over years.

What a speech pathologist provides: an assessment, advice on textures and fluid consistencies, swallowing techniques, and — importantly where paid support is involved — a written mealtime management plan. Where one exists it should be followed exactly, with no variations and no family member’s preferred method substituted. Dysphagia support is a high intensity support with real risk attached; the general framework is in dysphagia and mealtime support.

Mealtimes, practically

Positioning. Sitting up, properly supported, with the chin a little down rather than the head tipped back. A supportive chair with sides and arms, not a slump on a sofa. Remain sitting up for half an hour after the meal.

Environment. Quiet. Television off. One person talking. Fewer people. Good lighting. This single change improves intake measurably in people with HD because it addresses the attention problem.

Pace. Small mouthfuls, one at a time, each one swallowed before the next. Where impulsivity is driving the pace, this means somebody present who slows it down — verbally, or by controlling the plate, or by serving smaller amounts at a time. Putting a smaller portion in front of somebody and refilling it works better than asking them to slow down.

Time. Allow far more than seems necessary, and do not rush. If a roster does not allow enough time for a meal, that is a rostering problem to escalate rather than a reason to go faster.

Equipment, which does more here than people expect:

• Weighted cutlery, which dampens involuntary movement and is the single most useful item
• Non-slip mats
• Plate guards and scoop plates
• Cups with lids, wide bases and two handles
• Cut-out rim cups so the head does not tip back
• Straws
• Mobile arm supports in some cases
• A built-up handle, or a strap, where grip is failing

Dignity. Food goes everywhere in HD and adults find that humiliating. Large napkins rather than bibs. Clothing protection that does not look infantilising. Clean up without commentary. Eat at a table with other people if the person wants to, in private if they do not, and ask rather than deciding.

And keep the social part. Somebody whose eating has become slow and messy frequently stops eating with others, which costs them one of the main remaining sources of ordinary life. A smaller plate at the family table is better than a tray in another room, if they want it.

The feeding tube question

A gastrostomy — a tube placed through the abdominal wall into the stomach — comes up later in Huntington’s than in motor neurone disease, and the decision is shaped differently.

When it is considered. Where oral intake can no longer maintain weight and hydration despite fortification and supplements, where swallowing has become unsafe, where mealtimes have become exhausting or distressing, or where repeated aspiration is occurring.

What it does. Secures nutrition, hydration and medication. Removes the pressure on mealtimes. Reduces one route of aspiration.

What it does not do. Stop the disease. Restore swallowing. Prevent aspiration of saliva or refluxed stomach contents. And it does not necessarily mean the end of eating by mouth — many people continue eating for pleasure with the tube handling nutrition, which for a lot of people is the best available arrangement.

What is different in Huntington’s. Two things.

Chorea and the tube. Involuntary movement creates a genuine risk of the tube being pulled or dislodged, and this has to be planned for rather than discovered — abdominal binders or clothing that covers the site, a low-profile button rather than a long external tube once the site has healed, and a clear plan for what to do if it comes out, because the tract can close within hours.

Capacity and timing. HD affects insight and executive function early. A decision about a feeding tube made in advance, while the person can participate, is a decision made by them. Left late, it becomes a decision made by somebody else in a hospital during a crisis. This is the strongest argument for having the conversation early and recording the answer in an advance care directive — not because a tube is certain, but because the person’s own view should be on the record either way. See cognitive change in Huntington’s on capacity and timing.

Who manages it. Enteral feeding support is a high intensity support under NDIS arrangements, requiring specific worker competence, a plan from the relevant health practitioner, and documented training and competency sign-off. Ask any provider who is trained, by whom, when, and what happens on a shift where the trained worker is unavailable.

For families and support workers: the short version

Weigh weekly. Write it down. Take it to appointments.

More calories, not fewer. Full fat, fortified, supplemented, snacks in reach.

Quiet room, television off, one conversation.

Slow the pace. Small mouthfuls, one at a time, swallowed before the next. Smaller portions refilled rather than asking somebody to slow down.

Weighted cutlery.

Upright, well supported, and stay upright afterwards.

Follow the mealtime plan exactly, if there is one.

Report, the same day: new coughing on food or fluids, a wet voice after swallowing, meals being abandoned, weight loss, or any suspected chest infection.

And never rush a meal because the shift is running late.

The things that make eating harder and nobody checks

Four contributors to poor intake in Huntington’s that sit outside the usual swallowing-and-calories conversation, and that are each fixable.

Dental and oral health. Routinely neglected in HD and a major cause of reduced intake. Toothbrushing becomes hard with chorea and impaired fine motor control, apathy means it does not get initiated, and the high-sugar, high-calorie diet the condition requires accelerates decay. The result is pain, infection and broken teeth, in somebody who may not be able to report it clearly. Dental pain is one of the commonest hidden reasons a person with HD stops eating, and one of the commonest hidden causes of a behavioural deterioration. Get a dentist involved early, ask about electric toothbrushes with large handles, ask for support workers to assist with oral care as a named task, and investigate any unexplained drop in intake as possible dental pain.

Constipation. Extremely common, driven by reduced mobility, inadequate fluid, medication side effects and in some people a low-fibre high-energy diet. It suppresses appetite, causes abdominal discomfort that may be reported as nothing at all, and is a frequent trigger for behavioural incidents. It is also easy to miss and easy to treat. Bowel charting is not glamorous and it prevents a great deal.

Medication side effects. Several drugs used in HD reduce appetite, cause nausea, cause dry mouth, or sedate — and a sedated person eats less. Tetrabenazine and antipsychotics can also worsen swallowing. If intake has dropped since a medication change, that is the first thing to raise.

Depression. Affecting around 40 per cent of people with HD, and one of its core features is loss of appetite. Treating the depression frequently improves intake more than any dietetic intervention, and it is the single most under-done thing in Huntington’s care.

The practical instruction: when intake falls, do not assume it is the swallowing or the disease progressing. Check the teeth, the bowels, the medication list and the mood first. All four are common, all four are treatable, and all four are routinely missed in favour of a texture modification that was not the problem.