Psychotic illness in people with Prader–Willi syndrome: a systematic review of clinical presentation, course and phenomenology by Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland, Paul C. Fletcher

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Work productivity and activity in patients with SAPHO syndrome: a cross-sectional observational study by Chen Li, Heng Xu, Liang Gong, Afang Wang, Xia Dong, Kai Yuan, Guangrui Huang, Shufeng Wei, Luying Sun

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Genetic analysis of 55 cases with fetal skeletal dysplasia by Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng, Xiangdong Kong

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Pediatric joint hypermobility: a diagnostic framework and narrative review by Louise Jane Tofts, Jane Simmonds, Sarah B. Schwartz, Roberto M. Richheimer, Constance O’Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T. Tinkle, Antonie D. Kline, Alan J. Hakim, Marion A. J. van Rossum, Verity Pacey

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The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: results of a cross-sectional online survey by Lydia Rihm, Mareike Dreier, Farhad Rezvani, Silke Wiegand-Grefe, Jörg Dirmaier

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Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region by Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

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In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy by Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin

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Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing by Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei, Shenglin Wang

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Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study by Simon Fletcher, Kathryn Jenner, Michael Holland, Kate Khair

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Diagnostic delay of sarcoidosis: an integrated systematic review by Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook, Jane Desborough

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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants by Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan

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Increased prevalence of peripheral vestibular disorder among patients with Fabry disease by Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin

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Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement by Enrique Casado, Carlos Gómez-Alonso, Guillem Pintos-Morell, Rosa Bou-Torrent, Ana Coral Barreda-Bonis, José Vicente Torregrosa, José Jesús Broseta-Monzó, Pedro Arango-Sancho, Sara Chocrón-de-Benzaquen, Yoko Olmedilla-Ishishi, Begoña Soler-López

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Quality of life and depression in Wilson’s disease: a large prospective cross-sectional study by Kevin Chevalier, Djamila Rahli, Louise de Veyrac, Jessica Guillaume, Michaël Alexandre Obadia, Aurélia Poujois

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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations by Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh

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Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods by Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

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Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience by Mariangela Pellegrini, Subarna Chakravorty, Maria del Mar Manu Pereira, Beatrice Gulbis, Catriona Gilmour-Hamilton, Sandy Hayes, Mariane de Montalembert, Baba Psalm Duniya Inusa, Raffaella Colombatti, Noémi BA Roy

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Patient-reported outcomes in Gaucher’s disease: a systematic review by Junchao Feng, Zhongchun Gao, Zhao Shi, Yue Wang, Shunping Li

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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1 by Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Undiagnosed Diseases Network, Carolyn E. Pizoli, Edward C. Smith, Queenie K.-G. Tan, Vandana Shashi

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Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study by Esther S. Veldhoen, Camiel A. Wijngaarde, Ruben P. A. van Eijk, Fay-Lynn Asselman, Negina Seddiqi, Louise A. M. Otto, Marloes Stam, Inge Cuppen, Renske I. Wadman, Roelie M. Wösten van Asperen, Erik H. J. Hulzebos, Laura P. Verweij van den Oudenrijn, Bart Bartels, Jasmijn Boezer, M. Gaytant, Cornelis K. van der Ent, W. Ludo van der Pol

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