Babies and young children
Babies with leukodystrophies can be affected by common feeding and digestive problems like colic, regurgitation and constipation, just as any infant can. But they may also face additional problems caused by the leukodystrophy. Feeding and/or digestive problems can lead to under-nutrition and slower than expected growth, which is why some children will need nutritional support such as supplements or tube feeding. If you are concerned about your child’s nutrition or their growth rate, ask to be referred to a dietician.
An infant who does not grow at the expected rate, with height and weight measurements lower than expected, is described as failing to thrive. This is an indicator of under nutrition, which for children with a leukodystrophy can be caused by difficulties with feeding or by a need for further nutrients and additional calories compared to those who do not have a genetic syndrome.
- Swallowing problems and dental abnormalities can also cause feeding difficulties. There is more information on these below.
- Feeding problems in infants with a leukodystrophy can indicate reduced cognitive ability, as the infant is unable to concentrate and settle to feed (Aicardi-Goutieres Syndrome; Canavan Disease; HSPD1-related hypomyelination; Krabbe Disease; Leighs Disease; Mucolipidosis type IV; Peroxisome Biogenesis Disorders).
- Children with a genetic syndrome may need more nutrients and calories than other children of their age.
Swallowing problems (dysphagia)
Swallowing difficulties (known as dysphagia) can vary in severity, from struggling with certain foods or liquids, to not being able to swallow at all. People with dysphagia may cough or choke when eating or drinking, bring food back up, or feel that it is stuck in their throat. Other potential symptoms of dysphagia are gurgling, “wet” sounding voice when eating or drinking, and persistent drooling.
Dysphagia can lead to weight loss and to increased susceptibility to chest infection. Sometimes some food or drink can go into the lung instead of down the food pipe. This can cause a serious chest infection known as aspiration pneumonia.
People with dysphagia are also at increased risk of choking on food. Fear of choking can cause the person to avoid food and drink, leading to malnutrition or dehydration.
Dysphagia often cannot be cured, but support and treatment are available to help manage it.
- Making foods easier to swallow is the first step. A dietician or speech and language therapist can advise on this.
- In some cases, speech and language therapists can help people learn new swallowing techniques.
- When swallowing difficulties are severe, tube feeding may be the best way for the affected person to get the nutrition they need. This can be in addition to normal eating, or can replace it.
Progressive deterioration caused by any leukodystrophy at any age can cause dysphagia. However, conditions that are particularly affected are Adrenoleukodystrophy; Alexander Disease type 2; Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; Hypomyelination with Atrophy of the Basal ganglia and Cerebellum; Leighs Disease; Megalencephalic Leukodystrophy with subcortical Cysts; POLR3 related leukodystrophy
Feeding and digestion can also be impaired by poor development of teeth, missing teeth, and recurrent decay. Dental abnormalities are most likely in Cockayne Syndrome, Oculodentodigital Dysplasia with cerebral white matter abnormalities or POLR3 related leukodystrophy. However, maintaining dental hygiene is important for everyone with a leukodystrophy, to reduce the risk of feeding and digestive difficulties, tooth ache and other problems. You can find out more about dental services here.