Columbus, OH - September 2016
So many symptoms are worrying to families of Batten Disease patients – loss of developmental milestones, seizures and blindness, among others – that problems with sleep may not come up as part of a regular doctor’s visit. But a recent study from physician-researchers at Nationwide Children’s Hospital shows that sleep disturbances are ubiquitous for patients with neuronal ceroid lipofuscinosis (CLN).
“The more we specifically talked to families about sleep, the more we realized how big of an issue it is,” says Lenora M. Lehwald, MD, lead author of the study, attending pediatric neurologist at Nationwide Children’s and member of the hospital’s Sleep Disorder Center. “If your child doesn’t sleep, then the whole family doesn’t sleep. In some ways, that can be as disturbing as seizures. But very few families have seen a sleep specialist, and that could be helpful for them.”
The study, published in Pediatric Neurology, analyzed surveys from 54 families recruited at the Nationwide Children’s Batten Disease Center of Excellence and annual conferences of the Batten Disease Support and Research Association. Each family was given a validated sleep habits questionnaire that measures eight domains, such as sleep onset delay and night waking. Families were also given a questionnaire to screen for restless legs syndrome.
All but two of the 54 patients had some form of sleep disturbance. Patients with different types of CLN exhibited somewhat different forms of disturbance, however. For example, patients with CLN1 had two sleep domains that reached statistical significance, sleep duration and night waking, while patients diagnosed with CLN2 had six domains of statistical significance. Patients with CLN3, the most common type, had five significant domains.
The authors assumed that onset of sleep disturbance would be tied to onset of seizure and vision symptoms, but it was only moderately associated for the entire cohort, and did not reach significance when the cohort was divided into CLN types, says Dr. Lehwald, who is also an assistant professor of Clinical Pediatrics at The Ohio State University College of Medicine.
The study collected data on techniques and treatments utilized to ameliorate sleep disturbance as well. All families had strict adherence to sleep hygiene, such as following a regular bedtime routine, and nearly all had tried at least one additional environmental technique such as massage or playing music. Almost 78 percent of families had tried a medication. Twelve of 35 patients who tried melatonin found it helpful, and six of 14 found clonidine helpful.
Of particular interest to Dr. Lehwald was the finding that symptoms of restless legs syndrome were present in 35 percent of patients.
“That was unexpected, and we may be able to help those patients,” she says. “We have treatments that are proven to work, and we have a pathway to follow. We cannot follow the pathway, though, unless we know that a patient has restless leg symptoms. That’s why it’s important to ask families about sleep, and to seriously consider referring them to a sleep specialist.”
Lehwald LM, Pappa R, Steward S, de Los Reyes E. Neuronal ceroid lipofuscinosis and associated sleep abnormalities. Pediatric Neurology.2016 Jun;59:30-5.