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Journal of Neurodevelopmental Disorders. 2017; 9: 15. doi: 10.1186/s11689-017-9196-7

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Mackay, J., Downs, J., Wong, K., Heyworth, J., Epstein, A., & Leonard, H.

Andningsstörningar vid Rett syndrom ur ett familjeperspektiv.

Rett syndrome patients are known to have problems concerning autonomic nervous system function. Irregular breathing patterns and abdominal bloating are prominent features, but poorly understood and no studies show good evidence for treatment recommendation. Types of breathing disturbances described in the literature include hyperventilation, breath-holding, central and obstructive apnoea, hypoventilation, apneustic breathing, Valsalva manoeuvres, tachypnoea and periodic breathing.

This study shows the impact and management of these daily symptoms from a caregiver perspective.

Families with Rett Syndrome patients, aged 2-57 years, participated in the study. Web based questionnaries were used to collect data and 413/482 families returned the questionnaries. Mutation types were grouped as C-terminal deletion, early truncating, large deletion, p.Arg106Trp, p.Arg133Cys, p.Arg168*, p.Arg255*, p.Arg270*, p.Arg294*, p.Arg306Cys and p.Thr158Met, and all other pathogenic mutations were grouped as “other”.

Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Breathing irregularities start in the early childhood. 63,8% had breath holding at the age of  5 years. This age was not influenced by the mutation type. Hyperventilation and abdominal bloating associated mostly with ap.Arg294* mutation (this mutation normally associates with least severe clinical phenotype). Frequent hyperventilation declined with age, Abdominal bloating was more associated with older age. Hyperventilation was reported in 62.7% of individuals who experienced breath-holding. 48.5% of those with breath-holding experienced abdominal bloating, 57.1% with hyperventilation. They also found that abdominal bloating commonly co-occurred with both hyperventilation and breath-holding. Abdominal bloating had a major impact on the individual’s life in nearly half of those reported to experience the condition and breath-holding/hyperventilation had less impact on an individual’s life. However, the impact of both conditions are still crucial in the daily life.

31 patients got treatment for breathing irregularities. 4 patients on topiramate showed improvement and 2 with acetazolamide, improvement following use of buspirone was not clear. Breathing irregularities seemed to be helped by CPAP/BIPAP. 21 individuals used a product with Magnesium for constipation and were suggested to have some positive impact on breathing as well. Further trials are desperately needed to delineate evidence-based management pathways, but this data suggests that topiramate and magnesium citrate could be of importance in the treatment of breathing abnormalities.

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