PURPOSE: The paper examines the general literature and available research evidence on medical, health and social aspects of life for adults with skeletal dysplasia conditions causing profound short stature. METHOD: The paper reports on a literature review using available medical, psychological and social sources. RESULTS: There is a dearth of methodologically sound research evidence in this field, and this is particularly marked in areas such as transition to adulthood, ageing and medical, surgical and health experiences. CONCLUSIONS: There are serious gaps in the available literature and research evidence is sparse and often based on biased samples of limited numbers. This means that it is difficult to get information beyond the anecdotal in assessing the health and social needs of this group of people, and in particular to define needs that are currently unmet. It also limits the scope of advice and information available to health professionals and others in the field who offer support to adults with the conditions and parents of newly-diagnosed babies and young children.
PURPOSE: The paper examines the general literature and available research evidence on medical, health and social aspects of life for adults with skeletal dysplasia conditions causing profound short stature. METHOD: The paper reports on a literature review using available medical, psychological and social sources. RESULTS: There is a dearth of methodologically sound research evidence in this field, and this is particularly marked in areas such as transition to adulthood, ageing and medical, surgical and health experiences. CONCLUSIONS: There are serious gaps in the available literature and research evidence is sparse and often based on biased samples of limited numbers. This means that it is difficult to get information beyond the anecdotal in assessing the health and social needs of this group of people, and in particular to define needs that are currently unmet. It also limits the scope of advice and information available to health professionals and others in the field who offer support to adults with the conditions and parents of newly-diagnosed babies and young children.
Authors: Cheng Wang; Zhijia Tan; Ben Niu; Kwok Yeung Tsang; Andrew Tai; Wilson C W Chan; Rebecca L K Lo; Keith K H Leung; Nelson W F Dung; Nobuyuki Itoh; Michael Q Zhang; Danny Chan; Kathryn Song Eng Cheah Journal: Elife Date: 2018-07-19 Impact factor: 8.140
Authors: Ravi Savarirayan; Penny Ireland; Melita Irving; Dominic Thompson; Inês Alves; Wagner A R Baratela; James Betts; Michael B Bober; Silvio Boero; Jenna Briddell; Jeffrey Campbell; Philippe M Campeau; Patricia Carl-Innig; Moira S Cheung; Martyn Cobourne; Valérie Cormier-Daire; Muriel Deladure-Molla; Mariana Del Pino; Heather Elphick; Virginia Fano; Brigitte Fauroux; Jonathan Gibbins; Mari L Groves; Lars Hagenäs; Therese Hannon; Julie Hoover-Fong; Morrys Kaisermann; Antonio Leiva-Gea; Juan Llerena; William Mackenzie; Kenneth Martin; Fabio Mazzoleni; Sharon McDonnell; Maria Costanza Meazzini; Josef Milerad; Klaus Mohnike; Geert R Mortier; Amaka Offiah; Keiichi Ozono; John A Phillips; Steven Powell; Yosha Prasad; Cathleen Raggio; Pablo Rosselli; Judith Rossiter; Angelo Selicorni; Marco Sessa; Mary Theroux; Matthew Thomas; Laura Trespedi; David Tunkel; Colin Wallis; Michael Wright; Natsuo Yasui; Svein Otto Fredwall Journal: Nat Rev Endocrinol Date: 2021-11-26 Impact factor: 47.564