Introduction Subjects with Rett syndrome (RS) develop invariably severe motor deterioration resulting in swallowing difficulties that may produce excessive drooling. Hypersalivation can cause discomfort due to hygienic problems and may complicate with oral and respiratory dysfunctions. The aim of this study is to evaluate the response to treatment with botulinum toxin (BTX) for hypersalivation and to identify possible benefits of saliva reduction on oral motor and respiratory disorders of patients with RS. Methods Five consecutive patients with RS and hypersalivation were treated with incobotulinumtoxin A injected in salivary glands with ultrasound guidance. Severity of excessive drooling was assessed with the Thomas-Stonell and Greenberg Scale (TGSC) and the clinical impact of the treatment was evaluated using three selected items of RS Assessment Rating Scale (R.A.R.S.): eating habits, dyspnoea and bruxism. Scale rating was performed before BTX injection (T0), 4 (T1) and 12 (T2) weeks after. Results Scores of TGSC and R.A.R.S. (for eating and bruxism) were reduced significantly after therapy at T1. Conclusions BTX treatment for sialorrhea in RS is effective in reducing saliva production and may also improve oral motor functions. Electronic supplementary material The online version of this article (10.1007/s40120-018-0125-9) contains supplementary material, which is available to authorized users.

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Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. These data suggest that corticosteroid may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations.