Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2-3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1-14 years with genetically confirmed DMD in SA. This interim analysis examined the secondary outcomes from the study-the demographics and clinical characteristics of patients included retrospectively [data recorded (enrollment visit) between January 2014 and September 2020] and prospectively between September 2020 and April 2021. The primary outcome-the list of DMD gene mutations for the study population-will be reported at a later date. There were 177 eligible patients. Mean, standard deviation (SD) age at enrollment was 7.5 (3.0) years. Median (min, max) age at diagnosis was 7.0 (1.3, 13.8) years. At enrollment, 28.9% of patients were full-time wheelchair users, 50.0% of ambulatory patients could run, and 63.9% could climb stairs. The mean (SD) ages of patients at enrollment who were unable to run and climb stairs were 8.0 (2.7) and 7.6 (3.0) years, respectively. Speech delay (19.4%) and learning difficulties (14.9%) were the most commonly reported intellectual impairments. Physical therapy (84.2%) was the most common choice for initial management of DMD. Only 40.7% of patients received corticosteroid therapy as part of their initial management plan, rising to 59.1% at enrollment. Devices were given to 28.8% of patients for initial management, most commonly ankle-foot orthoses (26.0%) and wheelchairs (6.2%). This analysis reports data from the largest study to date to capture demographics and clinical characteristics of DMD patients in SA. The interim results show a relatively late DMD diagnosis age compared with that in other countries, and a need for improved adherence to international DMD standard of care guidelines. Therefore, there is an urgent requirement for improved DMD education and awareness among healthcare professionals and the public in SA.

Vigabatrin versus ACTH in the treatment of infantile spasms.

OBJECTIVE: To compare adrenocorticotropic hormone with vigabatrin as a single mono-therapy for infantile spasms. We studied hospitalization time, clinical response, whether complete or partial, time taken for improvement, and presence or absence of recurrence after stopping the medication. Together with improvement of electroencephalographic changes, and time taken for significant response, neurodevelopmental and cognitive responses in both groups. METHODS: Our study was conducted initially on 36 patients. They were divided randomly into 2 groups. The first group received adrenocorticotropic hormone and 2nd vigabatrin, as a single mono-therapy for infantile spasms. There was a male sex predominance of (1.25:1), with 20 males to 16 females affected. The mean age of onset was 5.2 months. Of the 36 patients, 26 patients (72.2%) were having typical hypsarrhythmia on electroencephalogram and 10 (27.8%) had burst suppression pattern. All 36 patients were having typical spasms. Four patients, all female, were excluded from the study, as their families lived outside Riyadh, and they were not regular on follow up. The remaining 32 patients continued the study. therefore, 16 patients were put in each group randomly. RESULTS: In the first group (adrenocorticotropic hormone group): initial improvement was achieved in 10 infants (62.5%), with median response time of 9 days, at a dose of 20 IU intramuscular daily, in the first 10 days. In the 2nd group vigabatrin: the initial improvement was achieved at 4 days in 9 infants (56.25%) at an average dose of 87mg/kg /day. The response was more appreciated in the secondary group infantile spasms with a known etiology. Side effects were noted in younger age group (5 months or below); 14 patients (78.5%) out of 16 suffered side effects from the adrenocorticotropic hormone group. Side effects in the vigabatrin group were much less, only 4 patients (25%) had some drowsiness, none had visual disturbances. CONCLUSION: Vigabatrin is an effective therapy for infantile spasms. It has shown to be as effective as adrenocorticotropic hormone, with less hospital dependency and milder side effects. As far as this study is concerned, differences in neurodevelopmental outcome are probably due to the underlying etiology. More research may be needed to further enhance the effects on both cognitive function and vision.