Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.

Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible, and engaging manner that enables researchers to undertake critical research aimed at improving outcomes. Typically, English is the default language of choice for these global digital health platforms. Unfortunately, language barriers can significantly inhibit participation from non-English speaking participants. In addition, there is potential for compromises in data quality and completeness. In contrast, multinational commercial entities provide access to their websites in the local language of the country they are operating in, and often provide multiple options reflecting ethnic diversity. This paper presents a case study of how the Global Angelman Syndrome Registry (GASR) has used a novel approach to enable multiple language translations for its website. Using a "semi-automated language translation" approach, the GASR, which was originally launched in English in September 2016, is now available in several other languages. In 2020, the GASR adopted a novel approach using crowd-sourcing and machine translation tools leading to the availability of the GASR in Spanish, Traditional Chinese, Italian, and Hindi. As a result, enrolments increased by 124% percent for Spain, 67% percent for Latin America, 46% percent for Asia, 24% for Italy, and 43% for India. We describe our approach here, which we believe presents an opportunity for cost-effective and timely translations responsive to changes to the registry and helps build and maintain engagement with global disease communities.

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning.

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.

Pre-pregnancy body mass index among pregnant adolescents: gestational weight gain and long-term post partum weight retention.

STUDY OBJECTIVE: To determine the relationship between adolescents' pre-pregnancy body mass index (BMI), and gestational weight gain and postpartum weight retention. DESIGN: We review the medical records of adolescents participating in a prospective cohort study on comprehensive health care and parenting education to determine pre-pregnancy BMI, gestational weight gain, and postpartum weight retention at one year. SETTING: Urban academic hospital clinic. PARTICIPANTS: 102 pregnant adolescents aged 15-21 years. MAIN OUTCOMES: Gestational weight gain and weight retention at one year postpartum. RESULTS AND CONCLUSIONS: Fifty-two (51%) adolescent women had normal pre-pregnancy BMI according to the Institute of Medicine classification. Adolescent women with normal (36.5%) and high pre-pregnancy BMI (66.5%) were more likely than women with low pre-pregnancy BMI (26.5%) to exceed recommended gestational weight gain. Adolescent women who exceeded recommended weight gain retained significantly more weight at 1 year postpartum than women with weight gain within or below the recommendation. In a linear regression model that controlled for age, smoking, pregnancy complication, and post partum contraceptive use, pre-pregnancy BMI and gestational weight gain were the strongest predictors of postpartum weight retention at 1 year. A normal to high pre-pregnancy BMI and excessive gestational weight gain are important predictors of postpartum weight retention in adolescents. These two predictors must be monitored systematically with the aim of preventing postpartum obesity and its associated diseases among this population.