4 provides critically important information for physicians, education and rehabilitation professionals, and families.Msall,M.E.Developmental Medicine and Child Neurology
where all participants received vosoritide at a dose of 15.0 μg/kg/day. The data cut for this analysis occurred on 2 November 2020 when all ongoing participants had completed one year of follow
The proband sought medical attention at 2 years and 9 months of age. He was born to non-consanguineous Japanese parents via vaginal delivery at 39 weeks and 1 day of gestation. The pregnancy and delivery were uncomplicated. His birth weight, length, and head circumference were 3274 g (+0....
Achondroplasia is the most common form of short-limbed dwarfism. Gene frequency is estimated to be 1/16,000 and 1/35,000. There are about 5,000 achondroplasts in the U.S.A. and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation...
(reported by 61 patients and 44 parents) increased by 5.33 (± 1.55) in those that participated, whereas there was a reduction of 2.88 (± 2.68) for those who did not participate (p = 0.009). Similar gains were seen across, social, emotional and attitudes domains (+ 6.51,...
Participants were ten women and eight men, members of AISAC鈥搕he Italian Association for the Knowledge and Study of Achondroplasia. Following a mixed method approach, quantitative data gathered through the Experience Sampling Method provided information on daily activities and their associated experience,...
Participants were ten women and eight men, members of AISAC-the Italian Association for the Knowledge and Study of Achondroplasia. Following a mixed method approach, quantitative data gathered through the Experience Sampling Method provided information on daily activities and their associated experience, ...
Participants were ten women and eight men, members of AISAC鈥搕he Italian Association for the Knowledge and Study of Achondroplasia. Following a mixed method approach, quantitative data gathered through the Experience Sampling Method provided information on daily activities and their associated experience,...
For parents, genetic counselling and planned pregnancy are of most importance, considering that the risk of passing down the pathogenic mutation is 50% for a single gene, and the risk for the co-occurrence of both syndromes in their next child is 25%. Here, we described the first coincidence...
Parents are prepared to overcome short-term treatment challenges for future gains in terms of health and functional independence for their children. Greater support could ensure they have the right information to initiate treatment and manage treatment at home, which will improve parents' and children...